P49815
PR
Gene name |
TSC2 (TSC4) |
Protein name |
Tuberin |
Names |
Tuberous sclerosis 2 protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7249 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for P49815
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7DL2 | EM | 440 A | A/B | 50-1807 | PDB |
| AF-P49815-F1 | Predicted | AlphaFoldDB |
4055 variants for P49815
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002437016 RCV001299467 rs2084667702 |
1 | M>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043269 rs137854295 |
2 | A>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001057284 rs2084668501 |
2 | A>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs147206318 RCV002345865 RCV000815336 CA028755 |
4 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
rs2084669441 RCV001039905 |
5 | T>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042993 RCV000644262 rs45517093 CA014750 |
5 | T>A | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV001062131 rs1555494544 |
6 | S>C | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003162913 CA394300569 RCV000644162 rs1555494544 |
6 | S>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA033570 rs758239066 RCV000213113 RCV000537615 |
6 | S>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA016415 rs397514951 RCV000055137 |
7 | K>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000466851 RCV000042450 RCV001719782 RCV000574466 rs137854215 CA016732 |
7 | K>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs137854215 RCV001213412 |
7 | K>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854019 RCV001008915 RCV000042860 |
8 | D>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000798636 CA394300630 rs1596233815 |
8 | D>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001248431 COSM87850 RCV000055535 CA017918 rs397515228 |
9 | S>* | Tuberous sclerosis 2 pancreas Tuberous sclerosis syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001207076 rs2084671697 |
10 | G>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs45512692 RCV000042837 RCV000013202 CA019229 |
12 | K>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394300841 rs1596233951 RCV001020923 |
12 | K>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs778509364 RCV000792358 |
13 | E>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002476254 RCV000562925 CA394300845 rs1555494586 RCV001853810 |
13 | E>K | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001214238 rs2084674122 |
14 | K>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055235 rs397515020 |
15 | F>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055146 rs397514958 RCV001250502 |
16 | K>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000201207 rs397515020 |
16 | K>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2084674938 RCV001324147 |
16 | K>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1274194851 CA394301016 RCV001023388 RCV001337454 |
17 | I>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1596234105 RCV001024667 CA394301128 |
20 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001315122 rs2084676177 |
21 | L>M | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2084676497 RCV001320097 |
22 | G>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs868467487 RCV003163556 CA276768594 RCV001205363 |
24 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001348642 rs868467487 |
24 | P>Q | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567380585 CA394301207 RCV000690087 |
24 | P>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs759867905 RCV000644165 CA056318 RCV002388092 |
25 | R>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555494636 RCV000520283 CA394301263 RCV000556475 |
26 | P>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001882385 RCV001118862 rs2084677815 |
27 | N>D | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000468568 RCV002436294 rs1057522105 CA16607134 RCV000428159 |
28 | P>H | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001224456 rs200480606 |
28 | P>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567380695 CA394301347 RCV000693713 |
29 | R>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1010489256 RCV001313020 |
29 | R>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001215302 rs1567380695 |
29 | R>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000699032 RCV002256480 rs1425163522 CA394301392 |
30 | S>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA394301412 RCV000700683 rs1567380741 |
31 | A>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394301421 RCV002379624 RCV001070398 rs1482573368 |
32 | E>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002375302 rs2084679567 RCV001247049 |
32 | E>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394301452 rs1352220583 RCV000644123 RCV002386073 |
33 | G>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA056868 RCV000644191 rs370230541 RCV000563255 |
33 | G>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2084680573 RCV001322979 |
34 | K>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002530345 RCV000570293 rs777988634 CA027990 |
34 | K>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs777988634 CA027975 RCV000475609 RCV000189880 RCV001009700 |
34 | K>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001068366 rs2084681207 |
35 | Q>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854105 CA013636 RCV000042394 |
35 | Q>* | Variant assessed as Somatic; impact. Tuberous sclerosis syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs757113497 RCV002314773 CA028094 RCV000189881 RCV000467572 |
36 | T>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000042987 rs137854178 |
37 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043434 rs137854355 |
38 | F>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs745604417 RCV001306471 |
38 | F>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854355 RCV000055335 RCV000518939 |
39 | I>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2084683129 RCV001049073 |
39 | I>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515078 RCV000055316 |
39 | I>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000468085 CA16614890 rs184437554 |
39 | I>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP |
|
RCV000129975 rs587781758 CA014027 |
40 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001062049 rs2084683845 |
40 | I>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515085 RCV002513719 RCV000055325 |
41 | T>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1385450866 RCV002368143 CA394301702 RCV001347824 |
41 | T>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1596234558 RCV000811607 CA394301697 |
41 | T>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001811642 rs2084685904 RCV001071459 |
43 | E>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000190066 RCV000644127 rs796053508 CA319579 |
44 | I>M | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001010984 rs1190102918 RCV000644150 CA394301782 |
44 | I>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000574862 rs1555494697 CA394301772 |
44 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000484317 rs137854360 RCV000554425 RCV000042406 |
45 | L>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002379842 rs1383831944 RCV001223108 |
45 | L>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002384164 RCV000543191 rs1383831944 CA394301803 |
45 | L>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA394301789 RCV000792194 rs1555494707 |
45 | L>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000043457 RCV002470737 CA014603 rs137854266 |
46 | R>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137853979 RCV000042411 |
47 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA014776 RCV000042412 rs137854133 |
47 | E>D | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001329368 rs2084956276 |
49 | S>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002257696 RCV000460225 rs1060500955 CA16614895 |
50 | M>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000726243 RCV001011846 CA030828 RCV001086583 RCV000243799 rs140618379 |
50 | M>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000575026 CA030988 RCV000468262 RCV001705072 rs772617064 |
51 | E>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA394303152 rs746366461 RCV001860687 RCV001011988 CA031035 RCV000699718 |
51 | E>D | Hereditary cancer-predisposing syndrome Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001039280 CA276769331 rs910205065 |
51 | E>Q | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001302635 rs2084958377 |
52 | C>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394303201 RCV002393278 rs1394176023 RCV001057035 |
54 | L>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2084958940 RCV001050079 |
55 | N>H | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555495709 CA394303218 RCV001012569 |
55 | N>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555495709 CA394303217 RCV000644247 |
55 | N>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs144165984 RCV001213199 |
56 | N>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000571093 RCV003153433 RCV001704075 RCV000148918 RCV000226143 CA015434 rs144165984 |
56 | N>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002307571 rs1430159201 RCV001012687 CA394303257 RCV000644128 |
57 | R>C | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [Ensembl, ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
CA015456 rs397514949 COSM168830 RCV002399416 COSM168829 RCV000055135 RCV000472366 |
57 | R>H | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs397515042 RCV000055268 |
58 | I>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002400211 rs2084960700 RCV001035627 |
58 | I>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1161261925 CA394303302 RCV000644163 |
59 | R>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1161261925 CA394303300 RCV000568734 RCV001298117 |
59 | R>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
COSM3690830 RCV000815994 rs1015282988 CA276769391 RCV001013003 COSM3690831 RCV001249157 |
59 | R>W | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA276769392 rs1053960780 RCV001059775 |
60 | M>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2084961446 RCV001041377 |
61 | I>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001304127 rs2084961841 RCV003127778 |
61 | I>M | Tuberous sclerosis 2 Autism spectrum disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2084961446 RCV001212093 |
61 | I>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA016050 RCV000055271 rs397515045 RCV002513718 |
62 | G>E | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397514903 RCV000055077 |
63 | Q>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM3706918 COSM3706917 RCV000055264 rs397515039 CA016129 |
63 | Q>* | liver Tuberous sclerosis syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs397515081 RCV002406765 CA394303451 RCV000799165 |
64 | I>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs397515081 RCV000055320 RCV001118864 CA016191 RCV002408557 RCV000644085 |
64 | I>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Autism spectrum disorder [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000055319 rs397515080 |
65 | C>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002411435 CA16614896 RCV000459248 rs1060500965 |
65 | C>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA016361 rs45517094 RCV000042440 |
66 | E>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs774506901 RCV001042241 |
67 | V>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000644157 RCV002422324 rs774506901 CA035477 |
67 | V>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000692507 rs1567387058 CA891844142 |
68 | A>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394303524 RCV000691567 rs767626323 |
68 | A>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002418832 CA035859 RCV001241744 rs767626323 |
68 | A>T | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA016524 RCV000043368 rs45517095 |
69 | K>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000644149 CA036103 rs45517095 |
69 | K>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001235307 CA276769443 rs1013995962 RCV002497316 RCV000999527 RCV002416286 |
70 | T>N | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1013995962 CA394303558 RCV000820820 |
70 | T>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002426919 RCV003150973 RCV001770139 RCV001079014 rs766200310 RCV000190013 CA036834 |
71 | K>N | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2084967199 RCV001314218 |
72 | K>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001014482 CA394303587 RCV000549108 rs1489623582 |
72 | K>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1596245977 RCV002549407 CA394303599 RCV001014709 |
73 | F>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596245977 RCV001042005 |
73 | F>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2084968438 RCV001350626 RCV002431993 |
74 | E>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515049 CA017083 RCV000055275 |
75 | E>G | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000561674 RCV000148919 CA017070 RCV001086061 rs145470784 RCV000460205 |
75 | E>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001351266 rs145470784 |
75 | E>Q | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001721240 RCV000470663 RCV000565361 rs574779350 RCV000367424 CA038111 |
76 | H>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002256719 RCV002484348 rs777459404 RCV001243533 |
77 | A>S | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001756222 RCV003163237 RCV000699574 rs777459404 CA038299 |
77 | A>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA394305430 RCV002495047 rs1163221525 RCV000796282 |
78 | V>A | Tuberous sclerosis 2 Lymphangiomyomatosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000685553 rs1567394781 CA394305463 |
79 | E>D | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2085359439 RCV001238358 |
79 | E>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2085359793 RCV001212999 RCV002429904 |
80 | A>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000812994 rs142580483 CA276771032 RCV002259026 |
80 | A>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
RCV000055114 rs397514933 RCV001853087 CA017462 |
82 | W>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567394860 CA394305499 RCV000704652 |
82 | W>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878854083 RCV000229782 CA10583278 |
82 | W>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394305517 RCV001015679 rs1267562998 |
83 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000055433 rs397515158 |
84 | A>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001729369 RCV000055051 RCV000575144 RCV001084150 CA017545 RCV000589638 RCV000042470 rs35660529 |
84 | A>V | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1190158836 RCV000696894 CA394305566 RCV001564684 RCV002255512 |
86 | A>T | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001771989 RCV001016002 CA394305574 rs1369594860 RCV000701640 RCV001580538 |
86 | A>V | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs137854271 RCV000043345 |
87 | D>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001068441 RCV002429731 rs1555496967 |
87 | D>E | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055338 rs397515094 |
90 | Q>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000707342 rs45517099 CA017893 RCV000491603 RCV000381969 RCV000043003 |
90 | Q>* | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA017971 RCV000163281 RCV000473293 RCV001529022 RCV000042484 RCV000122218 rs45482691 |
91 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555496979 RCV002424466 CA394305664 RCV000644211 |
91 | P>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000547536 rs1555496979 CA394305662 |
91 | P>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854422 RCV000043382 |
92 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000130758 rs137853994 RCV000122217 RCV000043383 RCV002477140 CA018098 RCV001703939 RCV000989412 |
92 | E>V | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000575589 CA394305714 rs1222477746 RCV000546307 |
93 | R>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs760688660 RCV000557507 CA041936 |
93 | R>W | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs137854179 RCV000043108 |
94 | P>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042493 rs137854409 |
94 | P>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002436401 CA042049 RCV000471856 RCV001797088 rs200045926 |
94 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP |
|
VAR_008019 RCV000043402 CA018212 rs1051616 |
94 | P>T | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
rs2085369170 RCV001299057 |
95 | L>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394305771 rs1446873736 RCV000800654 |
97 | A>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001324139 rs1446873736 |
97 | A>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000796897 RCV001840733 RCV002440646 RCV002487669 rs1478204355 CA394305789 |
98 | R>Q | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001555447 RCV000055443 rs372321790 COSM3772152 RCV000573567 RCV000989413 COSM3772153 CA018319 |
98 | R>W | Tuberous sclerosis 2 pancreas Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000055549 rs397515239 |
99 | H>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs369314296 CA043637 RCV002436859 RCV001222030 |
100 | A>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs375824753 RCV000575476 RCV000761927 CA043693 RCV001086235 RCV000594514 |
100 | A>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs137854244 RCV000043437 |
101 | V>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001314345 RCV002438705 rs2085372909 |
101 | V>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878854089 RCV000822093 CA394305857 |
101 | V>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002466476 rs878854089 RCV000569350 RCV000227019 CA10583279 |
101 | V>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs137854004 RCV000043139 |
103 | A>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394305903 RCV000536490 rs1555497043 |
103 | A>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001065161 rs2085373985 |
104 | L>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394305913 RCV000820374 RCV002319905 rs1596259554 |
104 | L>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394305950 rs1567395686 RCV000699028 |
106 | K>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002322082 rs2085374926 RCV001223559 |
107 | A>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001061746 rs2085375504 |
108 | I>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001222001 CA394305999 rs1233900284 |
108 | I>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000538970 rs955754399 CA276771132 |
108 | I>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002321769 RCV000189956 rs369932305 RCV000233520 CA045030 |
109 | V>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002323840 RCV000478118 rs1064796511 CA16620085 |
110 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2085376654 RCV001221880 |
110 | Q>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854108 RCV000042792 |
111 | G>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394306055 RCV001019984 RCV002223258 RCV001242066 rs1266039524 |
111 | G>W | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA018928 RCV000055255 rs397515308 |
112 | Q>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA045776 RCV001040529 RCV001020055 rs397515308 |
112 | Q>E | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs137854063 RCV000043138 |
114 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055238 rs397515021 CA019116 RCV002515743 |
114 | E>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA394306402 RCV000560861 rs1555497542 RCV002341362 |
114 | E>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000227736 RCV001020231 RCV000055573 rs397515021 CA019111 |
114 | E>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs397514918 RCV000055097 |
115 | R>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1256047792 CA394306415 RCV000802000 |
115 | R>C | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs764529584 RCV000544848 RCV001020329 COSM968294 CA046888 COSM968295 |
115 | R>H | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001020331 rs764529584 CA394306431 RCV001323822 |
115 | R>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394306434 rs764529584 RCV001860982 RCV001020330 |
115 | R>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1567398983 RCV000702867 |
116 | L>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596264690 CA394306498 RCV001020487 |
117 | G>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001852879 rs137853982 RCV002453338 RCV000190065 RCV000042521 |
118 | V>missing | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10583280 RCV000231912 rs878854094 RCV001020537 RCV003221873 |
118 | V>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs878854094 CA394306524 RCV000694884 RCV002458252 |
118 | V>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001235216 RCV001766849 rs1596264734 RCV001020610 CA394306564 |
119 | L>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000528192 rs1477548902 CA394306574 |
119 | L>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs876658878 RCV000219250 |
120 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043034 rs137854258 |
120 | R>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394306592 RCV000689112 RCV000494472 rs1131691602 |
120 | R>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs767755750 CA047888 RCV000575342 RCV000546990 RCV002469054 |
121 | A>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs767755750 RCV001315794 RCV002543679 |
121 | A>V | Tuberous sclerosis 2 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001194683 rs2085499583 |
122 | L>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1175373447 CA394306653 RCV002453884 RCV000821089 |
122 | L>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs756263581 CA394306656 RCV002495179 RCV002453897 RCV000822531 |
122 | L>H | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1567399252 RCV000687993 CA394306690 |
123 | F>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002245065 RCV002343305 RCV000644181 rs1342475885 |
124 | F>missing | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs547231441 RCV001020948 CA048121 RCV000802848 |
124 | F>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs778928295 CA048320 RCV001295259 RCV000561673 |
125 | K>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000550667 RCV001591241 RCV001021036 CA048294 rs767059758 RCV001115885 |
125 | K>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001046520 rs2085502098 |
126 | V>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1458070269 RCV001242234 |
126 | V>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1458070269 RCV001322237 CA394306754 |
126 | V>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1207714822 RCV001732074 RCV001216204 RCV002365974 CA394306780 |
127 | I>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000701802 RCV002360800 rs748095129 CA048888 |
128 | K>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000042535 rs137854059 |
129 | D>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394306880 RCV000644235 rs1555497612 |
129 | D>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs771961048 CA048912 RCV002358834 RCV000644250 |
129 | D>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs397514975 RCV000055171 |
130 | Y>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055576 rs397515263 |
131 | P>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA049630 RCV001236083 rs777398393 |
131 | P>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA394306918 rs1487984678 RCV000811943 |
131 | P>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1487984678 RCV001217704 |
131 | P>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10583281 RCV000232197 rs777398393 |
131 | P>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002354225 rs137854391 RCV000421754 CA019748 RCV000043300 RCV000464621 |
132 | S>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1191673224 CA394306924 RCV000702015 |
132 | S>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA394306960 RCV001048312 rs746704620 |
133 | N>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001219580 CA394306943 rs1265446222 |
133 | N>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000989414 rs1555497641 CA394306983 |
134 | E>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555497641 COSM1376399 RCV001021650 RCV000555560 CA394306969 COSM1376400 |
134 | E>K | Tuberous sclerosis 2 large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000042796 rs137854166 |
135 | D>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001295193 rs2085506301 |
135 | D>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394307035 rs1350803240 RCV002325500 RCV000793084 |
136 | L>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs137854381 RCV000043312 |
137 | H>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_009415 COSM1237228 CA019961 RCV000042542 RCV001321102 rs45517107 COSM1237227 |
137 | H>R | Tuberous sclerosis 2 Tuberous sclerosis syndrome parathyroid TSC2; unknown pathological significance [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
rs1596265133 CA394307056 RCV000813997 |
137 | H>Y | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001805870 RCV003166220 CA394307089 RCV000802752 rs1173061992 |
138 | E>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs137854010 RCV000042545 |
139 | R>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2085508015 RCV001225356 |
139 | R>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060500924 CA16614902 RCV000458135 |
141 | E>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001226962 rs2085508858 |
142 | V>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043165 RCV002326763 CA020223 RCV000476314 RCV000431983 rs137854406 RCV002287356 |
143 | F>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001338814 rs2085509615 |
144 | K>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000229518 RCV002327021 CA050850 rs769286175 RCV000189958 |
144 | K>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000601232 rs774892845 CA050881 RCV000565404 RCV000644327 |
145 | A>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001348361 CA394307359 rs1596265255 RCV001022336 |
145 | A>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397514996 RCV000055206 CA020368 |
146 | L>R | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001315553 rs997604465 |
146 | L>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001253193 rs137854292 RCV000043153 |
147 | T>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
TCGA novel CA394308344 rs1596265301 RCV000822948 |
147 | T>A | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Variant assessed as Somatic; impact. [Ensembl, ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA Ensembl dbSNP |
|
RCV001300691 rs1555497690 |
147 | T>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555497690 CA394308347 RCV000644114 |
147 | T>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000232638 RCV002327112 rs878854107 CA10583282 |
149 | N>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1029118280 RCV000644253 RCV000573948 CA276771541 RCV001545040 |
149 | N>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854199 RCV000043268 CA020595 |
151 | R>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397515285 RCV000465969 RCV000055607 CA020642 RCV001557660 RCV000575914 |
152 | H>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Autism spectrum disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555497700 RCV000566766 CA394308459 RCV001215453 |
153 | I>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000644109 rs1215092245 RCV002533267 CA394308479 |
154 | T>I | Tuberous sclerosis 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA020829 RCV000042571 rs45444196 |
155 | Y>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000644170 RCV001022839 CA052014 rs755177576 |
155 | Y>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002339259 RCV001051707 rs2085513777 |
155 | Y>missing | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA020914 RCV000042762 rs45517108 |
157 | E>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001224960 rs2085515389 |
158 | E>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596265482 CA394308554 RCV000824576 |
158 | E>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555497714 CA394308572 RCV000644141 |
159 | E>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000644265 CA394308577 rs1555497716 |
159 | E>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555497725 CA394308591 RCV000534568 |
160 | L>Q | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs45517109 CA021005 RCV000042579 VAR_009416 RCV000518124 |
160 | L>V | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000043106 rs137854235 |
161 | A>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs45481496 RCV000804201 CA394309024 |
161 | A>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA021073 RCV000042584 rs45481496 RCV000809485 |
161 | A>V | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000644082 RCV001023148 CA394309028 rs1257721773 |
162 | D>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs137854122 RCV000478381 RCV000043145 RCV000818975 |
163 | F>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001585759 rs1596270677 CA394309071 RCV000820781 |
163 | F>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA021413 rs45517111 RCV002513629 RCV000351808 RCV000043085 |
166 | Q>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs755728007 RCV001195824 |
167 | W>* | Lymphangiomyomatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001050966 COSM3706839 COSM3706838 RCV000493895 rs1131691794 CA394309138 |
167 | W>* | Tuberous sclerosis 2 liver [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs755728007 RCV002341371 RCV000547492 CA053524 RCV000765259 |
167 | W>C | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000574722 rs1555498118 RCV000644193 CA394309132 |
167 | W>R | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs748692173 RCV000701409 CA053610 |
168 | M>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001235749 rs779566253 RCV002339649 |
168 | M>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394309172 RCV000540210 rs1555498124 |
168 | M>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002258218 CA053552 RCV001352453 rs779566253 |
168 | M>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2085657148 RCV001224818 RCV002339603 |
169 | D>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001035170 rs2085658266 |
170 | V>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001023518 CA394309219 RCV000796975 rs1596270815 |
170 | V>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000055537 rs397515229 |
171 | G>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002345906 RCV000822669 rs983899092 CA276771991 |
171 | G>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs773662047 RCV002339583 RCV001220756 CA054357 |
173 | S>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001023750 RCV000551476 CA054487 rs747538587 RCV000590906 |
174 | S>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs137854277 RCV000042679 |
175 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000644172 CA394309294 RCV002257898 rs1555498151 |
175 | E>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555498151 RCV002476563 RCV001338617 |
175 | E>Q | Tuberous sclerosis 2 Lymphangiomyomatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854207 RCV000042628 |
177 | L>missing | Lymphangiomyomatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042629 rs137853991 |
177 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001054854 rs867879148 CA394309356 |
177 | L>F | Tuberous sclerosis 2 Variant assessed as Somatic; 9.239e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV002350303 RCV000538231 rs777105764 CA055211 |
179 | V>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA394309407 RCV000704944 rs45485591 |
180 | L>M | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001024033 rs1567403610 CA394309414 |
180 | L>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394309419 RCV000689885 rs1567403610 |
180 | L>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000781951 rs45485591 RCV001024017 RCV000419036 RCV001770062 CA022465 RCV000989415 RCV000043112 RCV000729019 |
180 | L>V | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA276771999 RCV001035216 rs1016698636 |
182 | N>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000043126 CA022529 rs45470502 |
183 | L>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM3377817 COSM3377818 rs1415519717 RCV003162916 CA394309485 RCV000644251 |
183 | L>F | Tuberous sclerosis 2 pancreas Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs2085667006 RCV001208134 |
184 | V>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001321506 rs775642056 |
186 | F>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043127 rs45505405 CA022538 |
187 | N>I | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000765260 RCV000190050 RCV000163373 RCV001086110 rs45505405 CA022534 |
187 | N>S | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs397515120 RCV000055381 |
189 | C>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2085669104 RCV001040877 |
189 | C>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001024388 rs764218079 RCV001315789 CA394309623 |
189 | C>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001024387 CA055403 RCV000227485 rs764218079 |
189 | C>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000043303 rs137854332 |
190 | Y>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043304 rs137854359 CA022559 RCV000201021 |
190 | Y>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA022564 RCV000055345 rs397515099 |
190 | Y>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000644190 rs1555498201 CA394309670 |
191 | L>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555498201 CA394309676 RCV001024448 |
191 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394309714 rs1284679649 RCV000644204 |
192 | D>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA022584 RCV000043305 rs45517112 |
193 | E>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001042210 rs2085672813 |
193 | E>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000189961 RCV000698793 RCV000219746 rs45517112 CA055433 |
193 | E>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001224397 rs750174170 |
194 | Y>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002528999 RCV000561426 rs1555498219 CA394309783 |
194 | Y>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394309808 RCV000704748 RCV002473125 rs397515309 |
195 | I>M | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002500580 RCV000189962 CA055442 RCV000205768 RCV000573793 rs148325559 |
195 | I>V | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs45517113 CA022594 RCV000043220 RCV001024627 RCV003153330 RCV001719786 RCV000473187 |
196 | A>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394309819 rs1596271211 RCV000810242 |
196 | A>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000043221 rs137854172 |
197 | R>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043222 rs137854300 |
198 | M>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394309882 RCV002355074 RCV001063651 rs1452242351 |
198 | M>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs45517114 RCV001370970 CA022610 RCV000455251 RCV000042635 |
198 | M>T | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394309899 rs1555498243 RCV000533114 |
199 | V>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000810100 CA022614 RCV000122219 rs587778733 |
199 | V>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs45517115 RCV000042636 CA022625 |
200 | Q>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001024807 rs1596275209 CA394310598 |
200 | Q>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2085677930 RCV003166411 RCV001231599 |
200 | Q>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001024832 RCV000691597 rs45506197 RCV000043148 CA022680 CA394310621 |
201 | M>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001063455 RCV001024810 rs1596275224 CA394310608 |
201 | M>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596275224 RCV002356924 RCV001217149 |
201 | M>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001066224 RCV002355082 rs2085789314 |
205 | L>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000799456 RCV002352348 rs1596275276 CA394310686 |
205 | L>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000043149 rs45498496 CA022690 |
206 | C>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1596275305 CA394310699 RCV000803803 |
206 | C>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002469218 rs139929314 RCV001024992 RCV000729897 RCV001087306 CA055776 |
207 | V>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA055816 rs368386966 RCV001025035 RCV001510846 |
208 | R>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000055314 RCV001553178 CA022695 RCV000533936 rs374410454 RCV002255276 |
208 | R>W | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC dbSNP gnomAD |
|
rs147196739 RCV000163340 RCV000347186 RCV000189966 RCV000229264 RCV001721043 CA022705 |
210 | A>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000167112 CA022710 COSM165201 RCV001721086 rs764925296 RCV000233190 COSM165202 |
210 | A>V | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001025142 RCV000230979 CA10583283 rs878854120 |
211 | S>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs878854120 RCV000808653 CA394310890 |
211 | S>Y | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000042638 rs137854205 |
212 | S>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2085795216 RCV001240103 |
212 | S>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060500927 RCV000466914 CA16614905 |
213 | V>M | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000808105 rs1596275494 |
215 | I>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555498571 RCV000546698 CA394311067 |
215 | I>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002360958 CA394311031 rs1293515155 RCV001759528 RCV000802751 |
215 | I>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000042640 CA022725 rs45517118 RCV000201082 |
216 | E>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000042639 RCV002490591 rs45517118 RCV002354224 RCV000644252 CA022720 |
216 | E>K | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000802146 CA394311070 rs45517118 |
216 | E>Q | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000701842 CA394312287 rs1567407896 |
217 | V>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000055608 rs397515286 |
219 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515249 RCV000055561 RCV001053191 CA022749 |
219 | L>P | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397515181 RCV000055470 |
220 | Q>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042671 CA022760 RCV000699187 RCV000520962 rs45517119 |
220 | Q>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394312365 RCV000685632 rs45517119 |
220 | Q>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000694031 CA394312388 rs1567408059 |
221 | V>M | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397514921 RCV000055101 |
222 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA022775 RCV000042641 RCV001852883 rs45517120 |
222 | L>P | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs45517121 RCV000043174 CA022779 |
223 | D>Y | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001226297 CA394312453 RCV002366017 rs772558666 |
224 | A>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001770447 CA056104 RCV000528200 RCV002255451 rs772558666 |
224 | A>T | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs137854174 RCV000043175 |
225 | V>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001221065 rs1437259556 RCV001025611 CA394312473 |
225 | V>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001313096 rs1437259556 |
225 | V>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000685449 rs142919353 CA394312467 |
225 | V>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs142919353 RCV000572112 RCV002510893 CA056118 RCV000466214 |
225 | V>M | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002258167 rs2085881555 RCV001224304 |
226 | V>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055385 rs397515124 |
227 | C>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001299291 CA056139 rs753197543 |
227 | C>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000043157 CA022790 rs45517122 VAR_008020 |
227 | C>Y | Tuberous sclerosis syndrome TSC2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs397515034 CA022799 RCV000055258 |
228 | Y>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA891844058 RCV000700694 rs1567408314 |
228 | Y>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003166772 RCV001309775 rs2085882405 |
228 | Y>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000678855 RCV001868297 CA394312564 rs1555498802 |
229 | N>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000536042 rs1555498800 RCV003223650 RCV001025745 CA394312549 |
229 | N>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001056878 rs1043187800 |
230 | C>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001206583 RCV002365934 CA276774772 rs1043187800 |
230 | C>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000686831 CA056163 RCV001115886 RCV000575507 RCV001538849 rs760100924 |
232 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA056156 RCV002365618 RCV000458732 rs751846529 |
232 | P>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555498839 RCV000528797 CA394312631 |
233 | A>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567408479 RCV000699433 CA394312628 |
233 | A>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397515018 RCV000055233 CA022813 |
234 | E>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394312647 RCV001796781 rs397515018 RCV000793792 |
234 | E>Q | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000691661 CA394312672 rs1567408536 |
235 | S>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397514957 CA022820 RCV000865248 RCV000570091 RCV000055145 |
235 | S>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002466540 CA394312680 rs397514957 RCV000562981 |
235 | S>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001862350 RCV001026014 rs1596278377 CA394312705 |
236 | L>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001231521 rs2085886566 |
236 | L>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055448 rs397515166 |
237 | P>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555498859 RCV001203242 RCV002365914 |
237 | P>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001026051 CA056182 RCV000227699 rs139060277 RCV000190052 |
237 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs139060277 RCV001055262 |
237 | P>Q | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000573510 rs139060277 RCV001238459 CA394312711 |
237 | P>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555498859 RCV000572843 RCV002528998 CA394312708 |
237 | P>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397515166 RCV000644125 RCV000055566 |
238 | L>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042673 rs137854056 |
238 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA056191 rs768623382 RCV001026083 RCV000809469 |
238 | L>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV001721234 RCV002372159 rs778544723 CA056200 RCV000464650 |
239 | F>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1567408727 RCV002370020 RCV000761928 RCV001048016 CA394312722 |
239 | F>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP ClinGen Ensembl |
|
RCV000471121 CA16614690 rs796053482 RCV002374758 |
240 | I>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000801305 rs796053482 RCV002372160 CA319418 |
240 | I>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs397514893 RCV000055066 |
241 | V>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM293499 rs200943828 RCV001712292 RCV000554001 COSM293498 CA056228 RCV001797720 RCV000572855 |
241 | V>I | Tuberous sclerosis 2 large_intestine Hereditary cancer-predisposing syndrome Variant assessed as Somatic; 9.819e-05 impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001756076 rs200943828 CA394312728 RCV002369705 RCV000644255 |
241 | V>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000055569 RCV001058718 rs397515256 |
242 | T>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003166126 RCV000794968 rs1007232729 CA394312736 |
242 | T>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000055144 rs397514956 |
243 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs796053502 CA10583284 RCV000230600 |
243 | L>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854236 RCV000042643 |
244 | C>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042676 rs137854191 |
244 | C>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854101 RCV000478154 RCV000043163 CA022889 |
244 | C>R | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs45517124 CA022900 RCV000043164 |
244 | C>Y | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA056249 RCV000565481 RCV001584139 RCV000472885 rs375574283 |
245 | R>C | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs375574283 RCV001026291 CA394312748 RCV000542183 |
245 | R>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000234531 RCV000055226 CA022905 rs397515011 RCV000248644 RCV000570250 |
245 | R>H | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000612409 CA022910 RCV002288539 rs137854123 RCV000554931 RCV000042644 RCV002381326 |
246 | T>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA056277 rs774526017 RCV000405414 RCV000465522 RCV002379195 RCV000433208 |
247 | I>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16614645 RCV000477259 rs762104739 |
248 | N>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001026437 CA056283 RCV000644409 rs762104739 |
248 | N>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002388443 RCV000796617 CA394312770 rs1596278719 |
249 | V>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA056300 RCV000703235 RCV001026461 rs750649974 |
249 | V>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA056308 RCV001026462 RCV000691727 rs750649974 |
249 | V>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2085894886 RCV002259078 RCV001061281 |
250 | K>E | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1114167465 RCV000491270 CA394312781 |
251 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1114167465 CA394312779 RCV000530979 |
251 | E>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000685902 rs766770734 CA394312787 |
252 | L>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000043181 rs45517125 CA022915 |
253 | C>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA394312795 RCV000543169 rs766547457 RCV002395408 |
253 | C>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000917318 rs766547457 CA056325 |
253 | C>Y | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs45517126 RCV000043182 CA022923 RCV000055431 |
254 | E>* | Lymphangiomyomatosis Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001531837 RCV000228440 CA022920 RCV000055452 RCV000571293 rs45517126 RCV000190054 |
254 | E>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Variant assessed as Somatic; 0.0001094 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1567409292 RCV001008935 RCV000687442 |
256 | C>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854025 RCV000042683 |
256 | C>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA022932 RCV000043185 rs45517127 |
256 | C>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000706450 CA394312814 rs1567409304 |
256 | C>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2085898708 RCV001211842 |
257 | W>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_009417 CA022958 rs137854875 RCV000043249 |
258 | K>N | Tuberous sclerosis syndrome TSC2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs2085953921 RCV001223777 |
260 | M>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001026846 rs45517130 CA394312974 RCV000537091 |
261 | R>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_009418 rs45502703 CA022979 RCV000042647 |
261 | R>P | Tuberous sclerosis syndrome TSC2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000572337 RCV000190055 rs45502703 RCV001084043 CA319570 |
261 | R>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000841881 rs45517130 VAR_009419 COSM1636650 RCV000571475 CA022976 RCV000042646 RCV000055120 RCV001080453 |
261 | R>W | lung Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs2085955298 RCV001194691 |
262 | N>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001296545 rs2085955900 |
262 | N>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001302613 rs1485087555 RCV002411963 |
262 | N>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515102 RCV000055348 |
264 | L>missing | Lymphangiomyomatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001239986 rs2085956949 |
264 | L>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs45517131 CA022990 RCV000043188 RCV000523170 |
264 | L>P | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000695465 rs1567410457 CA394313064 |
265 | G>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2085959207 RCV001068528 |
268 | L>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001027127 rs1596280654 RCV001043328 CA394313139 |
269 | G>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555499071 RCV000557721 RCV002420464 CA394313169 |
271 | S>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs373818076 RCV000699437 RCV003159157 CA394313190 RCV002422554 |
272 | A>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs373818076 RCV000435776 CA056449 RCV000570779 RCV002500762 RCV001086224 |
272 | A>T | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1305592691 RCV002291670 RCV000567862 CA394313259 RCV001035509 |
274 | Y>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002429485 RCV000465565 rs367642937 CA056457 |
274 | Y>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001027288 rs367642937 CA394313238 |
274 | Y>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs397514926 RCV000055106 |
275 | N>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042706 CA022999 CA023002 RCV000055186 rs45468594 |
275 | N>K | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000180518 RCV000042707 RCV000312270 rs137853977 |
276 | M>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002431636 CA394313332 rs1318274503 RCV001779000 RCV000538015 RCV001049757 |
276 | M>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000705751 rs1281538226 CA394313323 |
276 | M>T | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000689830 RCV000518815 rs1057523424 CA394313376 |
277 | C>W | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000698426 rs137854020 RCV000042708 |
278 | H>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055579 rs397515266 CA023013 |
278 | H>P | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000231955 rs397515266 RCV002256137 RCV001534673 CA10583286 |
278 | H>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001297628 rs2085965079 |
278 | H>Y | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394313455 COSM1609051 rs1596280903 RCV000800713 COSM1609050 |
280 | M>V | Tuberous sclerosis 2 liver [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA023019 RCV000122220 RCV001017849 RCV000550508 rs587778734 |
282 | D>E | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000824063 RCV002442768 CA394313584 rs1596280931 |
283 | R>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000807453 CA394314883 RCV002406802 rs1596288325 |
283 | R>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1195702502 RCV001305140 |
284 | A>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043278 VAR_009420 RCV002262605 RCV000421501 CA023058 RCV001018037 RCV000457171 rs45517136 |
286 | M>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_009421 rs1800748 CA023055 RCV001084045 RCV000043277 RCV000122201 RCV000163382 RCV000713944 RCV002504932 |
286 | M>V | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000055115 rs397515300 CA023061 |
287 | E>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
CA056597 RCV001018094 RCV000231494 rs192567788 RCV000608375 RCV002500763 |
287 | E>D | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV003163116 CA276775619 rs397515300 RCV000687612 |
287 | E>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
CA276775635 RCV000644160 RCV002369704 rs780887572 |
288 | D>E | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555499648 RCV000644097 CA394315000 RCV002369703 |
288 | D>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001045028 RCV002372787 rs750060649 CA056616 |
289 | A>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA056623 rs755631210 COSM968335 COSM968334 RCV000568400 RCV000527430 |
289 | A>V | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000043199 rs137854052 |
291 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_005646 CA023069 RCV000043200 rs45517138 |
292 | L>P | Tuberous sclerosis syndrome TSC2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs137854364 RCV000043279 |
294 | G>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042663 VAR_009422 CA023078 rs45487497 |
294 | G>E | Tuberous sclerosis syndrome TSC2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000042662 CA023075 RCV002513623 rs45517139 |
294 | G>R | Tuberous sclerosis 2 Lymphangiomyomatosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596288578 RCV001018408 CA394315144 |
295 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001053883 rs747237113 RCV002445288 |
296 | V>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000415290 RCV000466469 rs747237113 RCV002374622 RCV002285328 CA16043501 RCV001197195 |
296 | V>M | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000043201 rs137853976 |
297 | F>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000394048 RCV001089419 RCV000570041 CA056651 rs747310967 |
298 | F>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001058679 RCV000043202 rs137854024 |
299 | V>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA023089 RCV000055185 rs397514986 |
299 | V>G | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042652 rs137854259 |
301 | M>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1356498946 RCV001340665 |
301 | M>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000467705 CA16615032 rs1060500949 |
301 | M>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001522508 rs1356498946 CA394315257 RCV002372554 |
301 | M>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002374757 CA16614692 RCV000468784 rs1060500943 |
303 | L>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002446789 CA16614909 RCV000460587 rs1060500943 |
303 | L>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002447287 RCV001300767 rs1060500943 |
303 | L>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515106 RCV000055352 |
304 | W>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515253 RCV000055565 |
304 | W>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001852884 rs137854012 RCV000042664 |
304 | W>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055050 rs397514884 CA023112 |
304 | W>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042665 rs45517140 RCV003150939 CA023109 |
304 | W>* | Variant assessed as Somatic; impact. Tuberous sclerosis syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000055358 RCV002371896 CA023104 RCV001562466 rs397515108 RCV002054888 RCV000795349 |
304 | W>R | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
| VAR_009423 | 304 | W>WGMALW | TSC2 [UniProt] | Yes | UniProt |
|
RCV001066746 rs2086233936 |
305 | G>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000696255 rs1567415674 CA394315341 |
305 | G>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001322652 rs2086235107 |
306 | A>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10583287 RCV001550647 RCV000226468 RCV002372261 rs878854121 |
307 | H>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs201144475 RCV002257374 CA023120 RCV000034667 RCV001084556 |
308 | R>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001019063 RCV001342322 CA394315408 rs1213252028 |
308 | R>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002255384 RCV001086904 rs201144475 RCV000732320 CA056666 |
308 | R>W | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000055483 rs397515190 |
309 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854138 RCV000043141 |
309 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000528235 CA394315433 RCV001019094 rs1258567486 RCV001355181 |
309 | L>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002372604 CA056674 rs75348431 RCV000935032 |
309 | L>H | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001019098 CA023128 RCV000042653 RCV000189878 RCV000540959 VAR_009424 rs137853986 |
309 | L>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs397515031 RCV000055253 |
310 | Y>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000229314 RCV002372262 rs878854122 CA10583288 RCV001770190 |
310 | Y>C | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA394315465 RCV000699700 RCV002477600 rs878854122 RCV002369912 |
310 | Y>F | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000819530 RCV001766732 CA394315485 rs1475672414 |
311 | S>C | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001040944 rs1475672414 |
311 | S>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002375386 RCV001307299 rs775590764 |
311 | S>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596288988 RCV000853247 |
312 | L>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000568871 CA16614696 rs755368431 RCV000459830 |
312 | L>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002516488 rs755368431 RCV000165681 CA023144 |
312 | L>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001348626 rs2086239979 |
313 | R>W | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042654 rs137854386 |
314 | N>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10583289 rs878854123 RCV002257539 RCV000233295 |
314 | N>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs202082319 CA023151 RCV000166873 RCV000553448 RCV001762388 |
315 | S>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs751490043 RCV002442696 CA394315620 RCV000806808 RCV001772084 |
316 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001770191 CA056703 rs751490043 RCV000226007 RCV001019379 |
316 | P>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000055425 rs397515153 |
317 | T>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394315656 RCV002298787 RCV000817306 RCV002372313 rs1596289105 |
317 | T>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16614697 RCV002379425 RCV001080775 rs1060500970 RCV000524092 |
318 | S>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002377105 CA394315689 rs1432086775 RCV000541726 |
319 | V>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs137854263 RCV000042667 |
320 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854347 RCV000055178 |
320 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042668 rs1131825 VAR_009425 CA023181 RCV002381327 |
320 | L>F | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome could be associated with TSC2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1345813917 RCV001194692 |
322 | S>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1345813917 CA394315792 RCV001056626 |
322 | S>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000462556 CA023189 CA023192 RCV000043213 RCV000043214 rs45517143 |
324 | Y>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2086247823 RCV001223173 |
324 | Y>D | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515097 CA023195 RCV002250551 RCV000055343 RCV002371895 |
325 | Q>* | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567416259 RCV000686042 CA394315904 |
325 | Q>H | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2086248990 RCV001068976 |
325 | Q>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055463 RCV001250504 rs397515176 |
327 | M>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397514960 RCV000055148 |
327 | M>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs754596133 CA056860 RCV001304690 |
327 | M>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs45517152 RCV000043234 CA023245 |
328 | A>P | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2086518199 RCV002379601 RCV001067062 |
329 | C>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2086518389 RCV001309444 |
329 | C>Y | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000468416 rs140910086 RCV001557290 RCV000566116 CA056877 |
330 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2086518574 RCV001042508 |
330 | P>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000793048 rs1596298137 |
331 | N>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16614698 RCV000474153 rs1060500974 |
331 | N>D | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_008021 RCV000043235 CA023248 rs45517153 |
331 | N>K | Tuberous sclerosis syndrome TSC2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs2086518981 RCV001228437 |
331 | N>Y | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001019949 RCV001369524 CA394317311 rs757788971 |
332 | E>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000559621 RCV002384165 rs911600402 CA276776600 |
332 | E>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001019960 CA056892 rs781423177 |
333 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002384166 CA394317320 RCV000531279 rs1336741146 RCV002473056 RCV002483449 |
333 | V>L | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002384402 RCV001317396 rs1336741146 |
333 | V>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs45484892 CA013517 RCV001730486 RCV002381358 RCV000055437 |
334 | V>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA013528 RCV000043442 rs45484892 |
334 | V>G | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2086521360 RCV001298361 |
334 | V>M | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055215 rs397515002 |
335 | S>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA013535 RCV000042915 rs45517144 RCV000202762 |
335 | S>C | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA027958 RCV000694942 RCV001009666 rs45517144 |
335 | S>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA027968 RCV000644115 rs780378198 RCV002424464 |
336 | Y>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000802339 CA394317419 rs780378198 |
336 | Y>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2086522579 RCV001203548 |
336 | Y>H | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042917 rs137854269 |
337 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs45517145 RCV000055301 CA013578 |
337 | E>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042916 CA013569 rs45517145 |
337 | E>K | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000792383 CA394317470 rs1596298246 |
337 | E>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1250621196 CA394317503 RCV001017000 RCV001351709 |
338 | I>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA276776626 RCV001017006 RCV000644222 rs559727962 |
339 | V>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs559727962 CA394317523 RCV000700341 |
339 | V>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000055485 CA013603 rs397515192 RCV001221077 |
340 | L>P | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2086524884 RCV001051063 |
341 | S>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000458703 CA16614648 RCV002379424 rs1060500913 |
342 | I>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2086525255 RCV001303277 |
342 | I>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055413 CA013622 RCV001355778 rs397515146 RCV000765261 RCV000539242 |
345 | L>F | Tuberous sclerosis 2 Lymphangiomyomatosis Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001753454 RCV000042393 rs45451295 CA013626 |
345 | L>R | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394317690 RCV000802563 rs768760795 |
346 | I>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2086528091 RCV001223551 |
346 | I>M | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16615037 RCV000462431 rs768760795 RCV002393093 |
346 | I>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394317709 rs1337295642 RCV001860852 RCV001017111 |
347 | K>E | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001009773 RCV001079443 CA013642 RCV000055159 rs367963898 |
347 | K>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000042970 CA013652 rs45517146 |
348 | K>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16614703 RCV000460360 RCV002402240 rs1060500916 |
349 | Y>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001044494 rs1060500916 |
349 | Y>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2086529367 RCV001350728 |
349 | Y>H | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000644182 rs1555500535 |
350 | R>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001222189 rs1567423240 RCV001751427 CA394317802 RCV002393537 |
350 | R>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2086530884 RCV001318933 |
351 | K>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000564908 rs748109163 CA028047 RCV000802991 |
351 | K>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1596298442 RCV000823559 RCV001118949 CA394317854 |
352 | E>K | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001035915 rs902767624 |
353 | L>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002397650 rs902767624 CA276776650 RCV000807265 |
353 | L>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs45469896 RCV000042918 RCV000713913 RCV001382877 CA013658 |
354 | Q>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs771943476 COSM556962 CA028057 COSM556961 RCV001223970 |
354 | Q>H | lung Tuberous sclerosis 2 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV000122203 rs587778728 RCV001537839 CA013667 RCV000471776 RCV000561439 |
356 | V>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001349248 rs150195368 |
357 | A>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055595 RCV000163628 RCV000714826 RCV001770048 CA013675 RCV000034641 RCV000230505 RCV000122202 rs150195368 |
357 | A>V | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Isolated focal cortical dysplasia type II [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2086534058 RCV001349938 |
359 | D>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002418843 rs2086534827 RCV001244927 |
360 | I>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555500560 CA394318052 RCV000532295 RCV002256370 |
360 | I>V | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000055492 rs397515198 |
361 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042919 CA013696 rs45517147 VAR_009426 |
361 | L>P | Tuberous sclerosis syndrome TSC2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000754678 RCV000189974 CA319427 rs796053483 RCV002257481 RCV000812345 |
361 | L>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Autism spectrum disorder [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA013704 RCV001065226 RCV000042395 RCV000413741 rs137854345 |
362 | L>P | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394318162 rs1567423658 RCV000701871 |
363 | N>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394318153 RCV000697533 rs1567423658 |
363 | N>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002451461 rs2086536512 RCV001212777 |
364 | I>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043428 rs137854423 |
365 | I>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043427 rs137854367 VAR_009427 |
365 | I>missing | Tuberous sclerosis syndrome TSC2 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
RCV001224443 rs757135168 RCV002451527 |
365 | I>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001064683 rs370403197 RCV000493232 CA028137 RCV002431439 |
365 | I>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_009427 rs137854367 |
365 | I>del | TSC2 [UniProt] | Yes |
UniProt dbSNP |
|
CA013758 RCV000497801 rs45517148 COSM1636643 RCV000055263 RCV000042986 RCV001194675 |
366 | E>* | lung kidney Tuberous sclerosis 2 Lymphangiomyomatosis Tuberous sclerosis syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs45517148 RCV000568549 RCV001721235 CA028150 RCV000230966 RCV001118951 |
366 | E>K | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002483858 rs45517148 RCV000644146 RCV002424465 RCV002282288 CA276776700 |
366 | E>Q | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs397515273 RCV000055588 |
367 | R>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001325034 rs1800725 |
367 | R>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055059 RCV000805573 CA013788 rs1800725 |
367 | R>P | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000118696 RCV000203922 RCV000129200 rs1800725 RCV000034642 CA013779 RCV000054867 VAR_009428 |
367 | R>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1301716 COSM1301715 rs757844109 RCV002445146 RCV001319370 CA028160 RCV000993364 |
367 | R>W | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome urinary_tract [Ensembl, ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV002424592 CA394318278 RCV000687056 rs1567423904 |
368 | L>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003166646 rs1195544121 RCV001295897 |
369 | L>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1600409 RCV000801770 RCV002458470 rs1596298721 CA394318338 |
370 | Q>* | lung Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000760655 rs45469099 RCV000042397 CA013813 RCV000644081 |
371 | Q>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002436917 RCV002504320 RCV001234320 CA028182 rs571767462 |
371 | Q>H | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002438264 CA394318377 RCV000523784 rs1555500581 |
371 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060500919 RCV002244933 RCV001017372 RCV000457917 CA16614653 |
372 | L>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA013824 rs45458694 RCV000043024 |
373 | Q>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000055393 rs397515131 CA013834 |
373 | Q>P | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000691479 CA394318479 rs397515131 |
373 | Q>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394319747 RCV000531383 rs1440918649 RCV002438410 |
374 | T>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA16614706 rs1060500976 RCV000467319 |
376 | D>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001340438 rs2086680090 |
377 | S>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002260699 RCV002322195 RCV001298879 CA394319880 rs201525586 |
377 | S>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000043432 rs45517154 RCV000572792 CA013884 VAR_009429 RCV001084867 RCV000842561 |
378 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs45517154 RCV001335403 CA10583290 RCV001770189 RCV001009957 RCV000228935 |
378 | P>R | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2086680808 RCV001194676 |
379 | E>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854072 RCV000043433 |
379 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042935 rs45465395 RCV002513627 CA013922 |
381 | R>K | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000055166 rs397514970 |
382 | T>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000685591 rs1567428094 |
382 | T>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854007 RCV000042927 |
382 | T>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs758511419 RCV002458345 RCV001797789 RCV000732364 RCV002485913 CA028620 RCV000761152 |
382 | T>I | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001245281 rs2086683040 |
382 | T>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001036197 rs764246333 |
383 | I>M | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515214 RCV000055515 CA013967 |
384 | V>D | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001009993 RCV000644410 rs397514881 RCV000055042 CA013958 |
384 | V>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA394320075 RCV000807183 rs1410290642 |
385 | H>D | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000570261 CA028650 RCV001054845 rs757353933 |
385 | H>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000043435 rs137854398 |
387 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA014001 rs397515123 RCV000055384 |
387 | L>P | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878854075 RCV000228535 |
388 | L>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854283 RCV000042399 |
390 | T>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001210022 rs1596303442 CA394320314 RCV001010094 |
390 | T>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001213112 RCV002327495 rs2086688013 |
390 | T>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000704181 rs1414372155 CA394320356 RCV002332498 |
391 | V>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000768349 rs1567428371 |
391 | V>missing | Lymphangiomyomatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394320318 RCV000556838 rs1555501071 |
391 | V>M | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001250760 rs2086689358 |
393 | E>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003162909 CA394320514 rs1409309186 RCV000644099 |
394 | L>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA276777444 RCV002336669 rs1026632436 RCV000811652 |
395 | C>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
rs1596303501 RCV002551728 RCV001010217 CA394320591 |
396 | D>H | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596303501 RCV001223306 |
396 | D>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394320618 RCV000568241 RCV000644079 rs1365616275 |
396 | D>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2086690848 RCV001342284 |
397 | Q>H | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000609232 CA10603287 rs773920155 RCV000265342 |
399 | E>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA028736 rs773920155 RCV001069408 |
399 | E>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001010301 rs777172185 CA028785 |
402 | G>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000545351 RCV001010318 rs771561593 CA028779 |
402 | G>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs777172185 RCV000524014 CA394320844 RCV001851491 |
402 | G>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs771561593 RCV001202253 RCV002258155 RCV001751371 |
402 | G>W | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555501098 CA394320929 RCV000560176 |
403 | S>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1236783 RCV001382878 rs45457701 RCV000042938 CA014047 |
404 | Q>* | kidney Tuberous sclerosis 2 Variant assessed as Somatic; impact. Tuberous sclerosis syndrome [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002358534 RCV000549305 rs1057518321 CA394321063 |
405 | E>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000568157 rs765622787 CA028805 RCV000226213 |
405 | E>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2086693907 RCV001218235 |
406 | R>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397514897 RCV000055071 CA014091 |
407 | Y>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA394321122 RCV001307044 rs1596303621 |
407 | Y>C | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596303621 RCV001217751 |
407 | Y>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137853998 RCV001171693 RCV000042400 |
407 | Y>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854080 RCV000042931 |
407 | Y>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs45517156 VAR_005647 CA014052 RCV000042930 |
407 | Y>D | Tuberous sclerosis syndrome TSC2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1555501123 CA394321151 RCV000527407 |
408 | F>C | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854127 RCV001388102 RCV000042402 |
409 | E>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
TCGA novel rs137854089 RCV000042401 |
409 | E>* | Tuberous sclerosis syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar dbSNP NCI-TCGA |
|
CA014118 rs137854298 RCV002468995 RCV000201010 RCV000042942 |
410 | L>R | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567428822 CA394321240 RCV000686789 |
411 | V>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000055248 rs397515027 |
412 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000537703 rs137854026 CA394321332 |
412 | E>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596303713 RCV001010475 CA394321314 |
412 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA014133 RCV000042900 rs137854026 |
412 | E>V | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000820928 rs1596303739 RCV002372341 CA394321372 |
413 | R>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000430283 rs1057523509 CA16608029 RCV001861619 |
414 | C>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs374936223 RCV000163295 RCV001120921 RCV001081464 RCV000189884 RCV001770122 CA014143 RCV000726305 |
415 | A>V | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000803069 rs117111015 CA394321456 |
416 | D>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
rs45517157 RCV001317874 RCV002395682 |
416 | D>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA014159 rs45517157 RCV000042901 |
416 | D>Y | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA014169 rs45517158 RCV000043443 RCV000660342 |
417 | Q>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001232211 rs2086699971 |
418 | R>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM3361673 RCV001318263 COSM3361674 rs767670580 CA028853 |
418 | R>S | kidney Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV002422515 RCV000694218 rs1237876686 CA394321553 |
419 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA014179 RCV000043444 rs45517159 RCV000201101 |
419 | P>S | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000189977 rs796053484 RCV001051912 CA319432 |
420 | E>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000216060 rs876658585 CA10579873 |
420 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs796053484 RCV000541364 CA394321763 |
420 | E>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2086765786 RCV001219703 |
421 | S>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001194677 rs2086765953 |
422 | S>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854238 RCV000042404 |
423 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs746586340 CA029109 RCV001240770 |
423 | L>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2086767947 RCV001194678 |
425 | N>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10583292 rs878854076 RCV000232053 CA394321923 |
425 | N>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
COSM434846 RCV002534791 rs1186443300 COSM434845 RCV000804702 CA394321904 |
425 | N>Y | Tuberous sclerosis 2 Variant assessed as Somatic; impact. breast Inborn genetic diseases [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV001347102 CA029122 rs45478593 |
426 | L>V | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs45478892 RCV000055143 CA014342 RCV000463226 RCV001010730 RCV002490630 |
427 | I>M | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001222842 rs1202399787 |
427 | I>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555501373 RCV000525865 |
428 | S>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000190056 RCV000042906 RCV000475301 rs137853983 |
428 | S>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA014367 RCV000521650 RCV000042907 CA394322020 rs45493394 |
429 | Y>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002384163 rs774727624 RCV000540723 CA029149 |
429 | Y>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2086770532 RCV002491664 RCV001214955 |
430 | R>T | Tuberous sclerosis 2 Lymphangiomyomatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2086770794 RCV001324292 |
431 | A>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA029172 RCV000563838 rs202187148 RCV001079695 RCV001199344 RCV000710274 RCV000189972 RCV000284623 |
431 | A>V | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1114167462 CA394322093 RCV000491025 |
432 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1335355737 CA394322122 RCV000821529 |
433 | S>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000475576 RCV000055478 CA014387 RCV001010823 rs397515187 |
433 | S>C | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000688708 CA394322139 rs397515187 |
433 | S>Y | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000644208 CA394322184 rs1555501389 RCV002386074 |
435 | H>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000817499 CA394322177 rs760896048 |
435 | H>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001210586 rs1555501389 |
435 | H>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001221267 RCV002318425 rs760896048 CA029254 RCV000444336 |
435 | H>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000806228 rs1596305698 |
435 | H>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1489429320 RCV001314910 CA394322200 |
436 | P>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA319435 rs796053485 RCV001085727 RCV000189978 RCV000572652 |
436 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs796053485 RCV001070984 |
436 | P>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1489429320 CA394322199 RCV001010882 |
436 | P>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA029303 RCV001010887 RCV001062574 RCV002223966 rs764967942 |
437 | A>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs777457815 CA394322307 RCV000562035 RCV000539682 |
439 | D>E | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000034643 RCV000163424 RCV000227708 RCV000122204 RCV000054863 VAR_009430 CA014394 RCV000201296 rs45484298 |
440 | G>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Hirschsprung disease, susceptibility to, 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs45515894 CA014401 RCV000013216 RCV000043450 |
441 | W>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001068588 rs2086776250 |
442 | I>M | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000238590 rs879255344 CA10586023 |
442 | I>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003163177 CA394322441 rs1459924996 RCV000694229 |
443 | Q>H | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA319438 RCV000644113 rs535984356 RCV002381646 |
444 | N>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2086777094 RCV001063494 |
446 | Q>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854311 RCV000042952 |
446 | Q>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042950 rs45517163 CA014421 |
446 | Q>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001069148 rs2039161082 |
447 | A>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394322561 rs45486591 RCV000644077 |
447 | A>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1408196847 RCV000793796 CA394322556 |
447 | A>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001083058 CA014447 RCV000569820 RCV000034644 RCV000054865 rs45486591 |
447 | A>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000042951 rs137854318 |
448 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055502 rs397515206 CA014458 RCV000760985 |
448 | L>P | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000644119 RCV001010952 CA394322581 rs1413875392 RCV001719001 |
448 | L>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA014468 RCV001057603 VAR_005648 RCV000042407 rs45443091 |
449 | M>I | Tuberous sclerosis 2 Tuberous sclerosis syndrome TSC2 [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP ClinGen Ensembl |
|
RCV001851056 CA16606926 RCV000426033 rs1057520875 |
449 | M>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000644154 rs1555501441 CA394322605 |
449 | M>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs45491095 CA014477 RCV000042913 RCV001388103 |
450 | E>* | Tuberous sclerosis 2 Variant assessed as Somatic; impact. Tuberous sclerosis syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000055321 rs397515082 RCV000806791 |
451 | R>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs749780677 RCV000802374 RCV002386431 CA029408 RCV000827504 |
451 | R>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001011150 CA029417 RCV000532223 CA394323377 rs769147552 RCV002384481 RCV001770439 RCV001346983 |
452 | F>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2086780236 RCV001218100 |
454 | R>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001011130 RCV000470761 CA029692 rs374252944 RCV001591076 |
454 | R>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA394323563 rs1567432782 RCV002386192 RCV000691063 |
455 | S>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000213492 RCV000473388 CA10579874 rs876659386 |
456 | E>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001580066 rs397515142 RCV000560840 CA014598 RCV002381357 RCV000055407 |
456 | E>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1278503244 RCV001071337 |
457 | S>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1278503244 CA394323620 RCV001011185 RCV000534906 |
457 | S>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs45517169 CA014613 RCV000201131 RCV000042408 RCV000441085 RCV000624878 |
458 | R>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome Inborn genetic diseases [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001589172 RCV001011245 RCV000765262 rs878854077 CA10583294 RCV000231211 |
458 | R>Q | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1567432890 RCV001011225 CA394323645 RCV000706736 |
459 | G>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000288355 RCV001850685 CA10647141 rs886051788 |
459 | G>D | Tuberous sclerosis 2 Variant assessed as Somatic; impact. Tuberous sclerosis syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA014629 RCV000130880 RCV000989417 RCV000204918 RCV000042922 rs137854154 RCV000122206 |
460 | A>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2086823656 RCV001224340 |
461 | V>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001206437 rs796053486 |
461 | V>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA319441 COSM1230664 rs796053486 COSM1230665 RCV000189980 RCV000549657 |
461 | V>M | Tuberous sclerosis 2 large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV000703585 rs397515261 RCV000055574 CA014666 |
462 | R>C | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000803403 RCV002381757 RCV001557468 CA394323720 rs397515261 |
462 | R>G | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000528206 rs45494392 CA014699 RCV000043462 RCV001562608 RCV002390182 |
462 | R>H | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA014674 RCV000042929 rs137854323 |
462 | R>P | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000055261 rs397515037 |
463 | I>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002391108 RCV001039016 rs1188230416 CA394323756 |
463 | I>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001207133 rs1060500940 |
463 | I>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060500940 RCV000471447 CA16614710 |
463 | I>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000713914 CA014712 rs45517171 VAR_009431 RCV000163304 RCV000042936 RCV001080840 RCV000122205 |
463 | I>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001223478 rs2086826069 |
464 | K>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555501694 CA394323760 RCV000538357 |
464 | K>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555501694 RCV000820637 CA394323765 |
464 | K>Q | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002393264 RCV001052610 rs1033108057 CA276778125 |
464 | K>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002393267 CA030063 RCV001052755 rs758874054 |
465 | V>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA014733 RCV000807349 RCV000043463 rs45481199 |
466 | L>P | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000043464 CA014742 RCV000482403 rs45481199 |
466 | L>R | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16614711 RCV000468392 rs1060500977 RCV001011378 |
467 | D>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1158055650 CA394323855 RCV000811295 RCV002390638 |
468 | V>M | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs137854390 RCV000042994 |
470 | S>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854066 RCV000042889 |
471 | F>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2086830486 RCV001053022 |
473 | L>Q | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1321215329 RCV000527111 CA394323959 |
473 | L>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000809926 rs1596307430 CA394324025 |
475 | I>M | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002393727 RCV001307205 CA394324005 rs1196710568 RCV002509654 |
475 | I>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000055545 rs397515234 |
476 | N>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs121964862 CA014795 RCV000013208 RCV001839481 RCV000042413 |
478 | Q>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs121964862 CA394324088 RCV001011553 |
478 | Q>E | Tuberous sclerosis 2 (tsc2) Hereditary cancer-predisposing syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394324096 RCV002395405 rs1555501733 RCV001755845 RCV000552334 |
478 | Q>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA014804 RCV000042414 rs45514794 |
480 | Y>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001228356 rs2086832697 |
480 | Y>C | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001814282 RCV001214970 rs1308965961 |
482 | E>Q | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491130 RCV000201103 RCV000055085 rs397515297 CA014898 |
483 | E>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
rs774265657 RCV001322134 CA030607 |
485 | I>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs45486599 RCV000043053 RCV001852895 VAR_008022 CA014907 |
486 | N>I | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome TSC2 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000644164 CA014912 RCV000034645 RCV002390139 CA394325587 RCV000190067 rs200532154 |
486 | N>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
rs1567437155 RCV000768347 |
487 | S>missing | Lymphangiomyomatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs760205499 RCV000688452 RCV001011705 CA394325631 |
488 | V>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000810250 RCV001011757 CA394325732 rs753344988 |
490 | I>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000042415 VAR_008023 rs45517175 CA014922 |
490 | I>V | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA014929 rs45517176 RCV000042416 |
491 | S>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA030754 RCV001011767 RCV000477110 rs45517176 |
491 | S>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA16614712 RCV000471983 rs1060500931 |
492 | Q>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596311941 RCV001249599 |
492 | Q>H | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000189981 rs45517177 RCV001857664 CA319444 |
493 | L>F | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397515029 CA014943 RCV001853091 RCV000055251 |
493 | L>P | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs45517177 RCV000042417 RCV001056606 RCV003162356 CA014935 |
493 | L>V | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000478401 RCV000691424 rs751984707 CA030798 |
494 | S>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394325846 rs1555502412 RCV000559522 |
494 | S>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2087013241 RCV001037183 |
495 | H>D | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2087013746 RCV001194679 |
496 | I>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001224912 rs1211121251 |
496 | I>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394325945 RCV002390674 rs1484576810 RCV000818281 |
497 | P>H | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA394325957 RCV002388449 rs1484576810 RCV000797301 |
497 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs137854346 RCV000042898 |
498 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA014978 RCV000042899 rs45517178 RCV002266915 |
498 | E>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA014970 RCV001853090 rs45517178 RCV000189888 RCV002390202 RCV000055190 |
498 | E>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1354915682 CA394326007 RCV001325097 |
499 | D>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001223804 rs1555502438 |
499 | D>H | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394325991 rs1555502438 RCV000533561 |
499 | D>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567437492 RCV000706272 |
501 | D>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397514948 RCV000055134 |
502 | H>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567437505 RCV001037922 |
502 | H>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567437505 RCV001011936 RCV000690343 CA394326071 |
502 | H>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397514993 RCV000055198 |
503 | Q>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397514929 RCV001575872 CA014993 RCV000055110 |
503 | Q>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397514929 RCV003166671 RCV001298046 |
503 | Q>E | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394326124 RCV000693428 rs1567437568 |
503 | Q>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397515210 RCV000055508 |
504 | V>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002390103 rs45517179 CA015026 RCV000768350 COSM1636655 RCV000043399 RCV000517734 RCV000013204 RCV000055539 |
505 | R>* | lung Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [Cosmic, Ensembl, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV002256373 CA394326162 rs45517179 RCV000543764 |
505 | R>G | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000688733 RCV000055200 RCV001011980 CA015034 rs376285784 RCV001085948 |
505 | R>Q | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA394326221 RCV001066940 rs1413063599 |
507 | L>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2087020192 RCV001337683 |
508 | A>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001012024 RCV001069178 CA394326274 rs1596312182 |
510 | Q>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001012025 CA394326277 RCV001860688 rs1596312182 |
510 | Q>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA031010 rs771932622 RCV000811171 |
511 | L>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001083877 RCV000189982 CA031024 RCV001012067 rs772834557 |
512 | L>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001351430 rs2087022663 |
514 | D>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055586 rs397515272 |
516 | A>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555502518 RCV000558717 CA394326427 |
517 | E>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001056422 CA394326467 rs1229407025 RCV001012096 |
518 | G>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs137854275 RCV000043400 |
519 | C>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001238082 rs1156554876 CA394326474 RCV002402747 |
519 | C>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001035004 rs1596312329 |
520 | H>Q | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1220672669 RCV001049558 RCV002400279 |
520 | H>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394326532 RCV002481995 rs1279109316 RCV001054991 |
521 | T>A | Tuberous sclerosis 2 Lymphangiomyomatosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV003128740 RCV002400278 RCV001049327 CA394326543 rs1378972928 |
521 | T>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000484376 rs137854023 RCV000043401 |
522 | H>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515016 RCV000055231 |
522 | H>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854297 RCV000042902 |
522 | H>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555502530 RCV000505539 |
522 | H>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA015099 rs397515147 RCV000055414 |
522 | H>P | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA394326573 RCV001859981 RCV000568121 rs397515147 |
522 | H>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
COSM1272080 RCV000547543 RCV000055196 rs397514991 CA015081 |
522 | H>Y | Tuberous sclerosis 2 central_nervous_system Tuberous sclerosis syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs2087028639 RCV002466618 RCV002402464 RCV001068157 |
523 | H>missing | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055152 rs397514961 |
523 | H>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555502530 RCV000537048 |
523 | H>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1420211177 RCV002402843 CA394326617 RCV001302576 |
523 | H>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000705705 rs1567438108 CA394326592 RCV002397480 |
523 | H>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000566826 RCV000042943 VAR_009432 RCV000055336 rs45457694 RCV001719785 RCV000228102 RCV000248978 CA015117 |
525 | N>S | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome TSC2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA031083 RCV001770312 RCV001012244 RCV001564370 rs376573446 RCV000471506 |
526 | S>N | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001200210 CA031106 rs376573446 RCV000564968 RCV000557687 RCV000189889 RCV000768351 |
526 | S>T | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000042944 rs137854246 |
527 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397514885 RCV000055052 |
528 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000461470 rs1060499647 |
528 | L>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055102 rs397514922 CA015160 |
528 | L>P | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001196711 rs2087032456 |
529 | D>missing | Lymphangiomyomatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000536283 CA015168 rs786203470 RCV000166788 |
530 | I>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001704636 rs45517180 RCV002402406 CA16620088 RCV001359632 |
531 | I>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA394326754 RCV001071161 RCV002402484 rs1309168496 |
531 | I>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001012313 rs149222396 RCV000802377 CA319449 RCV000189983 |
532 | E>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001039944 RCV002400234 rs149222396 RCV001772222 CA031157 |
532 | E>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA015231 RCV000043406 rs1555502589 |
533 | K>N | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA015180 RCV000055262 rs397515038 |
533 | K>Q | Autism spectrum disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000800688 rs1596312554 |
533 | K>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000460751 CA16615042 rs924098595 RCV000571306 |
534 | V>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA015286 RCV000951521 RCV001117452 RCV001012373 rs587778729 RCV001770098 RCV000122207 |
534 | V>L | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA394267527 rs587778729 RCV001012372 RCV000807088 |
534 | V>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA394267537 RCV000686227 rs1309598467 CA394267543 |
535 | M>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen gnomAD ClinVar dbSNP |
|
VAR_008024 RCV000042421 RCV001012400 rs45517187 CA015294 |
536 | A>V | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000550259 rs1555503131 |
537 | R>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002514278 RCV000055416 rs397515148 |
537 | R>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000231616 RCV001703957 rs142257684 RCV000564084 RCV000431368 RCV000055179 CA015300 |
537 | R>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1376417 rs372681603 RCV000189985 COSM1376416 RCV001088401 RCV001012413 CA031730 |
537 | R>H | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs372681603 CA394267597 RCV000690920 |
537 | R>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs372681603 RCV001214694 |
537 | R>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000460086 CA16614927 rs142257684 |
537 | R>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002388422 CA031745 RCV000793613 rs201334685 |
538 | S>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002399815 rs201334685 CA10583296 RCV000226536 RCV002282073 |
538 | S>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000042423 rs137854281 |
539 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854100 RCV000042932 |
539 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2087226024 RCV002400271 RCV001047932 |
539 | L>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001223052 RCV002402691 CA394267686 rs1296271407 |
540 | S>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001012441 RCV001860709 CA394267691 rs1596317209 |
541 | P>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs752953762 RCV000462878 RCV002402242 CA16614663 |
541 | P>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs752953762 RCV001012444 RCV000461333 CA031797 RCV000765263 RCV000298128 |
541 | P>R | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001321575 RCV002265023 rs1596317209 |
541 | P>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000794666 RCV002397580 CA394267688 rs1596317209 |
541 | P>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000644187 CA031818 RCV002397241 RCV001771884 rs764191178 |
542 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16615043 rs764191178 RCV000463952 |
542 | P>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA276731038 RCV001296720 rs891347695 |
542 | P>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000575410 RCV001338109 CA394267710 rs891347695 |
542 | P>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000042933 RCV000229301 RCV002496677 CA015358 rs45517188 RCV001719784 RCV001012483 |
543 | P>L | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000477560 RCV002255385 rs1060500944 CA16615046 |
543 | P>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000055112 rs397514931 |
544 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515204 RCV000055500 RCV001250496 |
544 | E>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002399401 RCV000042934 rs137854075 RCV001305397 CA015380 |
544 | E>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394267806 rs1060504103 RCV001314555 RCV001012507 |
545 | L>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2087230941 RCV001044510 |
546 | E>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2087231131 RCV001039068 |
547 | E>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042424 rs137854342 |
548 | R>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000644074 CA276731085 RCV001012511 rs748938385 |
548 | R>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002395406 rs1170792905 CA394267934 RCV000542715 |
549 | D>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs137854245 RCV000043412 |
551 | A>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA031983 rs149877669 RCV000644177 |
551 | A>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002481897 CA394267993 RCV003160290 rs1465307943 RCV001042603 |
551 | A>V | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000804218 CA394268001 rs777121421 RCV000572824 RCV001509505 COSM215637 |
552 | A>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome central_nervous_system [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555503231 CA394268025 RCV000574572 RCV000700575 |
552 | A>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1319281731 RCV002259006 RCV000698725 CA394268052 |
553 | Y>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000043413 CA015421 RCV001852905 rs45471596 |
554 | S>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002256101 RCV001083566 RCV000189986 rs45471596 CA032083 |
554 | S>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA394268061 RCV001012561 rs1596317415 RCV002551760 |
554 | S>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394268059 RCV000824087 rs1596317415 |
554 | S>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002400249 rs763183991 RCV001042973 CA032134 |
555 | A>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001063318 rs2087235893 |
556 | S>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000802218 CA394270429 rs1596317476 |
558 | E>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001070744 rs1596317476 |
558 | E>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001042840 rs767619776 RCV001012609 CA394270472 |
559 | D>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs767619776 RCV001012610 RCV002549372 CA032194 |
559 | D>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000564291 RCV001786404 RCV001347232 rs1555503254 CA394270458 |
559 | D>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596317536 RCV001012618 CA394270502 |
560 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA015425 rs141631268 RCV000782250 RCV000562096 RCV000055282 RCV001080544 RCV000765264 |
560 | V>M | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001321917 RCV001012729 rs1463643429 CA394270539 |
562 | T>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA032290 RCV002404476 rs147072281 RCV000552124 |
564 | V>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs137854087 RCV000042877 |
565 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2087239987 RCV001313965 |
565 | L>Q | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878854078 CA10583298 RCV000230003 |
565 | L>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394270622 rs1596317594 RCV000802399 |
566 | G>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001060839 rs2087240694 RCV002256673 |
567 | L>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042963 rs137854041 |
570 | I>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001854155 rs397515230 RCV003162431 RCV000055538 CA015452 |
570 | I>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000805656 CA394270718 RCV002397638 rs1596317641 |
571 | L>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397515093 CA015468 RCV000055337 |
571 | L>P | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001213734 rs2087242404 |
572 | Q>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002549380 rs1596317664 RCV001012821 CA394270753 |
572 | Q>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs773304374 RCV000461958 RCV001012861 RCV001731688 CA033135 |
573 | T>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1060500926 RCV000561401 CA16614928 RCV000473481 |
574 | K>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000722929 CA394272664 RCV000695065 rs1567456901 |
575 | L>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001230202 rs1419122104 |
575 | L>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001201908 rs1204749633 CA394272689 RCV001012871 |
577 | T>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001012884 rs770895919 CA033165 RCV000545413 |
577 | T>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001045957 rs1204749633 CA394272687 RCV002400264 |
577 | T>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA394272703 RCV001339222 rs1204972424 |
578 | L>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000042883 RCV000560994 CA015587 RCV000468114 rs45517196 RCV001703936 |
579 | P>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001048101 rs45517196 CA015596 RCV000164533 |
579 | P>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs45517196 RCV001210855 |
579 | P>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002493022 CA033236 rs765043471 RCV000644096 |
580 | A>G | Tuberous sclerosis 2 Lymphangiomyomatosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000816201 rs1596336167 CA394272728 RCV002406858 |
580 | A>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854373 RCV000043419 |
580 | A>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854348 RCV000043420 |
581 | S>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001194680 rs2088122285 |
581 | S>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs45517197 RCV001232507 |
581 | S>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043421 RCV001852906 rs45517197 CA015625 |
581 | S>N | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA033256 rs775195398 RCV000359958 RCV000560091 |
581 | S>R | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA394272760 rs1385373190 RCV000824102 |
582 | H>D | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001203950 rs2088124334 |
582 | H>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000054859 RCV000129673 RCV000122209 CA015633 VAR_009433 RCV000034646 RCV001770049 rs1800729 RCV000204294 |
583 | A>T | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002400245 rs763863196 RCV001041472 CA033283 RCV001578178 |
583 | A>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000644256 RCV001012959 CA033300 RCV001705065 rs751147419 |
584 | T>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394272807 rs751147419 RCV001012958 |
584 | T>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000685542 rs1567457100 |
585 | R>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002274032 RCV001013015 RCV000469836 rs370324876 CA033336 |
585 | R>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001060310 rs370324876 RCV002402431 RCV002489661 CA394272814 |
585 | R>G | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA015651 COSM968391 RCV000055294 COSM968392 RCV000544349 rs397515063 RCV000567865 |
585 | R>H | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome endometrium Tuberous sclerosis syndrome [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000317368 RCV000042885 RCV002399400 rs137854371 |
586 | V>* | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2088127954 RCV002409372 RCV001037452 |
586 | V>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515116 RCV000055376 |
587 | Y>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1487642536 CA394272845 RCV000812289 |
587 | Y>C | Tuberous sclerosis 2 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000644100 CA394272833 rs1555505094 RCV002397240 |
587 | Y>H | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002404478 RCV000559306 rs1555505103 |
588 | E>missing | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001050047 RCV002409428 rs1596336374 |
588 | E>* | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001226618 rs2088130143 |
588 | E>D | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596336374 RCV001013073 RCV002495154 RCV000816015 CA394272856 |
588 | E>K | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001040636 RCV002400240 rs1567457356 |
589 | M>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs796053487 RCV001244741 |
589 | M>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567457356 RCV000701180 CA394272870 |
589 | M>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596336436 RCV000819170 |
590 | L>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854229 RCV000042886 CA015683 |
590 | L>P | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854418 RCV000043422 |
591 | V>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA276735673 RCV000548111 rs984275273 |
591 | V>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA16614713 RCV000570630 RCV000466443 RCV000765265 rs910068556 |
592 | S>G | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002404637 RCV000615980 rs374371998 CA033474 RCV000688126 |
592 | S>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001565367 VAR_009434 RCV000042429 CA015696 RCV001298722 rs45517198 |
593 | H>R | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA394272900 RCV000644108 rs1555505123 |
593 | H>Y | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555505128 CA394272907 RCV000526430 |
594 | I>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042430 rs45517199 RCV000993366 CA015705 |
595 | Q>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA16614929 RCV000469059 rs45517199 RCV002402241 |
595 | Q>E | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs45517200 RCV001040310 |
596 | L>H | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2088136491 RCV001295027 |
596 | L>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042890 rs45517200 CA015721 |
596 | L>P | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042892 rs137854165 |
597 | H>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055157 rs397514965 |
597 | H>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001216467 rs137854322 RCV002411799 |
597 | H>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854322 CA015754 RCV002513625 RCV000042891 |
597 | H>R | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA015730 RCV001824119 rs397515246 RCV000055558 |
597 | H>Y | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397515083 RCV000055323 |
598 | Y>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs45509094 RCV003114226 CA015804 RCV000043431 |
598 | Y>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000043430 CA015795 RCV000473316 rs45509791 |
598 | Y>C | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000800774 CA394272931 RCV002397612 rs45509791 |
598 | Y>F | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs45517201 RCV001852875 RCV000042431 CA015786 |
598 | Y>H | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854125 RCV000043055 |
599 | K>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2088139595 RCV001303391 |
599 | K>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA015834 rs45517202 VAR_009435 RCV000042896 |
599 | K>M | Tuberous sclerosis syndrome TSC2; impairs repression of EIF4EBP1 phosphorylation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs45517202 RCV000189988 RCV001236049 CA033543 |
599 | K>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000536893 rs775390128 RCV002404479 CA033559 |
600 | H>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001220964 rs1044401463 |
601 | S>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515132 RCV000055394 |
602 | Y>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394272960 RCV000799699 rs1596336738 |
602 | Y>C | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394272963 RCV000551645 rs876660140 |
603 | T>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10579877 RCV000213804 rs876660140 RCV002515687 |
603 | T>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002406404 rs1295352648 CA394272973 RCV000644192 RCV002499097 |
605 | P>A | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001013286 CA394272977 RCV000644098 rs1555505178 |
605 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001043379 RCV002409403 rs1295352648 |
605 | P>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1295352648 CA394272972 RCV001313583 RCV001013281 |
605 | P>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000555395 RCV000562015 RCV000518552 CA033640 RCV000302466 RCV001545749 rs371074761 |
606 | I>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA015874 RCV000704074 RCV000055079 rs397515296 |
607 | A>E | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000055401 CA015864 RCV002513720 rs45517203 |
607 | A>S | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000054869 COSM968395 COSM968394 rs45517203 CA015854 RCV000175145 RCV000034647 VAR_005649 RCV000163316 RCV000989422 |
607 | A>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome endometrium Tuberous sclerosis syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000561143 rs397515296 CA015881 RCV000464888 RCV001086928 RCV000122208 |
607 | A>V | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001013270 CA033723 RCV000644072 rs753235037 |
608 | S>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000042432 rs137854260 RCV001213061 |
609 | S>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1285778253 RCV001369719 CA394273002 RCV000570537 |
610 | I>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000042433 RCV001388105 rs45469298 CA015905 |
611 | R>G | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042946 RCV000768118 rs28934872 RCV000055317 RCV000491426 CA015920 RCV000414340 VAR_005650 COSM1636646 RCV000013205 |
611 | R>Q | lung Tuberous sclerosis 2 (tsc2) kidney Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome TSC2 and LAM; impairs phosphorylation at S-1387, S-1418 and S-1420; enhances ubiquitination by MYCBP2 [Cosmic, Ensembl, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000189989 RCV000539587 CA015914 RCV000042905 VAR_005651 rs45469298 RCV000768117 RCV000491813 |
611 | R>W | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome TSC2; impairs phosphorylation at S-1387, S-1418 and S-1420 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA394273013 rs1567458244 RCV000761363 |
612 | L>P | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001212510 rs1192397083 |
612 | L>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042947 CA015927 COSM1636653 rs45480292 RCV000055587 |
613 | Q>* | lung Lymphangiomyomatosis Tuberous sclerosis syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000532879 rs1555505208 CA394273020 |
613 | Q>H | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000043448 rs137854248 |
614 | A>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042985 VAR_009436 RCV002514169 rs45454398 CA016019 |
614 | A>D | Tuberous sclerosis 2 Tuberous sclerosis syndrome TSC2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs397515199 CA10583299 RCV000227968 |
614 | A>P | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA016014 rs397515199 RCV000055493 |
614 | A>S | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394273028 RCV001013364 rs397515199 |
614 | A>T | Tuberous sclerosis 2 (tsc2) Hereditary cancer-predisposing syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs45481105 CA016043 VAR_008025 RCV000043447 |
615 | F>S | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001856589 CA394273033 rs1446136662 RCV001121020 |
615 | F>V | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA394273044 rs1383525805 RCV000800212 RCV002406769 |
616 | D>E | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1446662814 RCV001054171 |
617 | F>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001214898 rs2088385424 |
619 | L>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000707437 rs1567461912 CA394273069 |
620 | L>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA016080 RCV001762166 RCV000055107 rs397514927 |
621 | L>P | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000055489 rs397515195 RCV001250497 |
621 | L>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs45517206 RCV000043040 CA016103 RCV001379863 RCV000713916 |
622 | R>P | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001013448 rs45517206 RCV000233524 RCV001703938 CA016094 RCV000043039 |
622 | R>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs397514914 RCV001562207 CA016088 COSM968407 RCV000055090 RCV000644057 COSM968406 RCV000574001 |
622 | R>W | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. endometrium Tuberous sclerosis syndrome [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000816088 rs1596342269 CA394273078 |
623 | A>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001865357 CA16608037 RCV000424565 rs1057522306 |
623 | A>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001258096 rs2088388374 |
624 | D>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000700692 CA394273084 rs1334081822 RCV002406622 RCV000765266 |
624 | D>N | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs397515017 RCV000055232 |
625 | S>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000459822 CA034344 RCV002411436 rs368285556 RCV001584142 |
625 | S>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000055309 rs397515073 RCV000657460 |
626 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394273095 rs903369062 RCV000807394 |
626 | L>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2088392295 RCV001342180 |
627 | H>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1563208 RCV000460911 CA034358 RCV002256251 rs45437797 COSM1563209 |
628 | R>C | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs45437797 RCV000042864 RCV001013512 CA016143 RCV003151740 RCV000707631 |
628 | R>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001548583 CA016151 RCV000531841 RCV000165847 rs774895427 |
628 | R>H | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394273125 RCV002487679 RCV001013536 RCV000799154 rs570409651 |
629 | L>V | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000767144 RCV000444052 CA16606929 RCV000546851 rs1057520642 RCV002411311 |
630 | G>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397515215 CA016158 RCV000055516 |
630 | G>DA | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2088394240 RCV001242223 |
630 | G>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055254 rs397515032 |
632 | P>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA034426 rs750663771 RCV001059399 |
632 | P>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs750663771 RCV001207322 |
632 | P>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001049821 CA394273143 rs1462660984 |
633 | N>H | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001232066 rs2088398113 |
633 | N>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002411597 rs1184287685 RCV001067438 CA394273147 |
633 | N>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA394273174 RCV000793379 rs1596342515 RCV002487653 RCV002406731 |
635 | D>E | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2088399323 RCV001304607 |
635 | D>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16615059 rs1060500932 RCV000473625 RCV000570501 |
635 | D>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs137854069 RCV000042437 |
637 | V>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2088399918 RCV001247098 |
637 | V>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001121021 RCV002481775 CA394273214 rs587778730 RCV000692203 RCV001797808 CA394273212 RCV002406566 |
638 | V>L | Lymphangiomyomatosis Tuberous sclerosis syndrome Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA016199 RCV000122210 RCV001013672 rs587778730 RCV000807299 |
638 | V>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001343545 rs753932484 |
639 | R>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000535602 RCV000566813 RCV000509149 CA034463 rs753932484 RCV001705071 |
639 | R>Q | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000570781 CA034455 RCV001705070 RCV000557012 rs766451267 RCV003155114 |
639 | R>W | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA016207 rs397514964 RCV000055155 |
641 | S>I | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002409380 RCV001038782 rs397514964 |
641 | S>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1408228669 RCV003160235 RCV003223690 RCV001038164 |
642 | P>H | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394273285 RCV002406580 RCV000693141 rs1408228669 |
642 | P>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000686384 rs889366862 RCV003163108 CA394273272 |
642 | P>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000042438 rs137854339 |
643 | Y>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000269157 RCV001204030 CA10603513 rs368710573 |
643 | Y>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV002501080 RCV000803397 RCV001592994 CA394273307 RCV002406784 rs1319342312 RCV001526823 |
643 | Y>C | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002473112 CA394273325 RCV000692026 rs1567462577 |
644 | C>G | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001013637 CA034528 RCV000925339 rs758301934 |
644 | C>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002258095 rs746677177 CA034596 RCV001039993 |
645 | V>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs746677177 CA034565 RCV000467991 RCV002411434 RCV000603190 |
645 | V>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002406828 rs746677177 RCV002254945 RCV000811430 CA034578 |
645 | V>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs397515019 RCV000055234 |
646 | C>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001320357 rs1555505863 RCV000565636 CA394273362 |
646 | C>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000043083 rs137854096 |
647 | D>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1326318078 RCV001346935 |
647 | D>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000562486 CA016233 RCV001770050 RCV000034648 RCV000054861 rs45509392 VAR_009437 RCV000989423 |
647 | D>N | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome TSC2; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs137854151 RCV000043082 |
648 | Y>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs775845436 RCV001202543 RCV000561184 CA394273549 CA035244 |
649 | M>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ExAC gnomAD ClinVar dbSNP |
|
CA394273414 RCV001061120 rs762331610 RCV002411570 |
649 | M>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000122211 RCV000574169 RCV001703940 RCV000202889 rs45490792 CA016283 RCV000043458 |
649 | M>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA034654 rs762331610 RCV001558235 RCV000559856 RCV000576099 |
649 | M>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1300730043 RCV003166359 RCV000816742 CA394273577 RCV002298786 |
651 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555505954 RCV001313718 |
652 | E>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs764225717 CA035262 RCV001327466 |
653 | R>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001853503 rs876658202 RCV000220242 CA10579878 |
653 | R>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876658202 RCV001228892 |
653 | R>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854349 RCV000042954 |
654 | G>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000201097 rs137854144 RCV001555731 RCV000042953 RCV000055533 |
654 | G>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA016336 rs397515114 RCV000055374 |
654 | G>C | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001350632 RCV000564381 rs397515114 CA276737597 |
654 | G>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000644259 rs1442388532 CA394273620 |
655 | S>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs137854082 RCV000042955 |
656 | E>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001204752 rs2088449468 |
656 | E>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA016355 rs45488199 RCV000042439 |
657 | K>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1596344117 RCV001230751 RCV001308031 |
657 | K>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001013872 RCV000463315 rs45488199 CA035326 |
657 | K>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1596344129 CA394274341 RCV002549397 RCV001013904 |
658 | K>E | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397515223 RCV000122212 RCV001770071 RCV000234257 RCV000055529 CA016374 RCV000564486 RCV001703965 |
658 | K>T | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs137854104 RCV000541973 RCV001571981 RCV000042441 RCV001013807 |
658 | K>missing | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042874 rs137854124 |
659 | T>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1398495219 RCV001342600 |
659 | T>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000819451 CA276737622 rs755847664 |
659 | T>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA035359 RCV000804262 rs755847664 RCV002422754 |
659 | T>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002417999 CA035397 RCV000228024 RCV000732670 rs754504918 |
660 | S>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs754504918 RCV001063833 |
660 | S>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001250758 rs2088453139 |
661 | G>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002491712 rs1213719461 RCV001225778 |
661 | G>D | Tuberous sclerosis 2 Lymphangiomyomatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001852893 RCV000042960 rs137854168 RCV002291552 CA016388 |
661 | G>R | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001080839 rs137854168 RCV000231071 CA035412 RCV000576038 |
661 | G>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001209976 RCV001753455 rs137854103 CA016394 RCV000042961 RCV000571827 |
661 | G>V | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394274385 RCV000698901 rs1309151152 |
662 | P>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2088455520 RCV001297881 |
662 | P>H | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2088455520 RCV001262865 |
662 | P>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001044607 CA394274386 rs1309151152 |
662 | P>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000043365 rs137854310 RCV000042442 |
663 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA035428 RCV001013916 RCV000526190 RCV001577413 rs747516623 |
663 | L>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001210494 rs1555506026 |
663 | L>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001013922 rs1555506026 RCV000644135 CA394274401 |
663 | L>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000572361 rs1555506028 CA394274403 RCV001056244 |
664 | S>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA276737672 rs991714565 RCV002420460 RCV000540904 |
664 | S>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs991714565 RCV000802473 CA394274410 RCV001013973 |
664 | S>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002422322 rs991714565 CA394274408 RCV000644120 |
664 | S>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001013956 RCV000644337 CA394274414 rs1184908674 |
665 | P>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA035463 RCV001325771 RCV002418977 rs757722513 |
667 | T>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001014033 RCV001359628 rs1406015247 CA394274447 |
668 | G>E | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002415751 CA016419 RCV000175403 RCV001211155 rs794727221 |
669 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060500934 RCV000462786 |
670 | P>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1338802781 RCV003166241 CA394274461 RCV000804961 |
670 | P>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000055611 RCV000567608 rs397515288 RCV000189898 CA016425 RCV000204401 |
670 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001014079 CA035599 RCV000644122 rs775881847 RCV002499096 |
671 | G>D | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1262368552 RCV002221568 RCV002422323 CA394274478 RCV000644136 |
672 | P>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000457153 CA16615063 RCV000568724 rs768864353 RCV000765267 |
672 | P>L | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001054876 rs1262368552 RCV003117691 CA394274480 RCV001014084 |
672 | P>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000233872 RCV000562068 CA035710 rs745897413 RCV001705066 |
673 | A>V | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs760566516 RCV002255485 RCV000644209 CA035778 |
674 | P>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1430327271 RCV000693218 |
674 | P>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs606231381 RCV000042965 |
675 | A>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854309 RCV000042966 |
675 | A>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000554874 rs1555506090 CA658658369 RCV000563982 |
675 | A>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001014102 rs764840082 RCV000644078 CA276737715 RCV000765268 |
675 | A>S | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV003165605 rs764840082 RCV003153525 RCV000228760 CA10583300 |
675 | A>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs754556513 CA394274529 RCV000989424 |
676 | G>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001840684 rs754556513 RCV000693999 RCV000566288 CA035845 |
676 | G>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1178654694 RCV001296635 |
677 | P>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001014141 CA035873 RCV000439541 rs376974525 RCV000470228 |
677 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000055276 rs397515050 |
678 | A>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003163570 RCV001207624 rs1567464805 |
678 | A>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567464805 RCV000697849 CA394274547 |
678 | A>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000189900 rs200494044 RCV000350114 RCV001572810 RCV000163290 CA016481 RCV000205984 |
678 | A>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs746315218 RCV001206521 RCV002418687 |
679 | V>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000231534 COSM1230659 RCV002478840 CA035939 RCV000605322 rs746315218 RCV000571411 COSM1230658 |
679 | V>M | Tuberous sclerosis 2 Lymphangiomyomatosis large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394274561 rs876658578 RCV000815171 RCV002316686 |
680 | R>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000644230 CA394274563 RCV001014160 rs756536921 RCV002282289 |
680 | R>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs756536921 CA394274566 RCV000533461 |
680 | R>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001014158 RCV000464533 RCV001310309 CA035970 rs756536921 |
680 | R>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000644083 rs876658578 RCV000218035 CA10579879 |
680 | R>W | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs878854079 RCV000822530 RCV002487850 CA394274571 |
681 | L>P | Tuberous sclerosis 2 Lymphangiomyomatosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001014169 rs878854079 RCV000226719 CA10583301 |
681 | L>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA394274581 RCV000686007 rs1567465004 |
682 | G>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394274577 RCV000687157 rs1432565227 |
682 | G>W | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002247450 RCV000055609 rs397515287 |
683 | S>missing | Lymphangiomyomatosis Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10643149 RCV000375312 rs878854080 |
683 | S>A | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs919334398 CA394274592 RCV001014227 RCV000810237 |
683 | S>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001014180 RCV000232288 CA10583302 rs878854080 |
683 | S>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs919334398 RCV001064910 CA276737795 |
683 | S>Y | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs397515141 RCV000055406 |
684 | V>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs779275341 RCV001235633 |
684 | V>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555506150 RCV000562300 RCV000543656 CA658658370 |
684 | V>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001337723 RCV000482513 RCV000214376 rs779275341 CA036058 |
684 | V>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002418951 rs959165669 RCV001315031 |
685 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000558616 RCV000423620 rs959165669 CA16606930 |
685 | P>R | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001227741 rs748300709 CA036069 |
685 | P>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000013203 rs137854337 RCV000043367 |
687 | S>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1455799897 CA394274638 RCV000822593 |
687 | S>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1455799897 RCV001206538 |
687 | S>Y | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042443 rs137854211 |
688 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854186 RCV000042884 |
688 | L>missing | Lymphangiomyomatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000704552 CA394274652 rs1567465268 RCV002422593 |
689 | L>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2088480123 RCV001339669 |
689 | L>H | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567465268 RCV001304454 |
689 | L>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs558292668 RCV000644102 RCV002422321 CA394274671 RCV001214698 |
690 | F>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000042979 rs137854071 RCV001852894 RCV000190058 |
691 | R>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs760489473 RCV000189993 RCV002053949 RCV000230256 RCV000163633 CA016553 |
691 | R>C | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000532403 CA394274678 RCV001770440 rs760489473 |
691 | R>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000704352 CA276737852 RCV002422591 rs370553131 |
691 | R>H | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001083287 RCV001014296 CA036218 RCV000189994 rs370553131 |
691 | R>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs137854419 RCV000042444 |
692 | V>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055491 rs397515197 |
692 | V>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000457575 CA16614736 rs201769220 |
692 | V>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000211466 CA036245 rs201769220 RCV002415885 RCV000542869 RCV001580472 |
692 | V>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA016583 RCV000042445 rs45488191 |
693 | L>P | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854234 RCV000042446 |
694 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_009438 | 694 | L>del | TSC2 [UniProt] | Yes | UniProt |
|
rs2088476977 RCV001042646 |
695 | Q>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA016601 RCV000042893 rs137854362 |
695 | Q>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042894 RCV002253206 rs45517209 CA016621 RCV001852892 |
695 | Q>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001014372 CA394274706 rs1596345118 |
695 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555506201 RCV000536056 |
696 | C>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA016635 RCV000043374 rs137854319 |
696 | C>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854217 CA016649 RCV000042910 |
696 | C>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000807899 RCV000043372 CA016629 rs45483301 |
696 | C>R | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000490930 VAR_009439 CA016643 RCV000043373 RCV001240824 rs45486196 |
696 | C>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome TSC2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000042911 RCV000042912 rs137854189 RCV001038792 RCV000497886 |
697 | L>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001253176 rs2088487335 |
697 | L>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA319586 RCV001317178 rs796053510 RCV000190070 |
698 | K>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001852876 CA016676 RCV000042447 rs45517210 |
699 | Q>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394274732 RCV001014414 rs1596345229 RCV001212996 |
699 | Q>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA036742 RCV001038108 rs571792874 |
700 | E>D | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV003152676 CA016724 RCV000042997 rs45496402 |
700 | E>K | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001326030 CA276738209 rs1044030046 RCV002418979 |
701 | S>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001014442 CA394274753 rs1596346996 |
701 | S>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854265 RCV000043378 |
702 | D>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1396298404 RCV001314869 |
702 | D>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002256700 RCV001211953 CA276738222 rs898836681 |
702 | D>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854183 RCV000042855 |
703 | W>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515047 RCV000055273 |
703 | W>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055536 CA016786 RCV000043002 rs45462192 |
703 | W>* | Lymphangiomyomatosis Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA016778 rs45517213 RCV000201180 RCV000043001 |
703 | W>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394274777 RCV000550034 CA394274778 RCV000644260 rs1555506423 |
704 | K>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002418835 rs397515068 RCV001243026 |
705 | V>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA016799 RCV000055304 rs397515068 |
705 | V>E | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397515241 RCV001039707 RCV002416340 |
705 | V>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000494277 RCV000660343 RCV002415509 CA016792 rs397515241 RCV000055552 |
705 | V>M | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394274789 RCV001116106 rs1596347145 RCV000810971 |
707 | K>E | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000993368 CA394274796 RCV002422512 rs778040604 RCV000693891 |
708 | L>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001762491 rs876659689 RCV001797683 RCV000221968 CA10579881 |
708 | L>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1326276839 RCV001214475 |
709 | V>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394274802 RCV000702727 rs1567467135 |
709 | V>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000055467 rs397515178 |
710 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2088566745 RCV001299050 |
710 | L>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16615065 rs1060500942 RCV000472966 |
713 | L>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596347240 RCV001341810 CA394274829 |
714 | P>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596347240 RCV001050849 |
714 | P>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854201 RCV000043380 |
715 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs763351805 CA276738276 RCV001070107 RCV002429741 |
715 | E>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA036848 RCV001359510 RCV000436141 RCV002429378 rs781153452 |
716 | S>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000055047 rs397514883 |
717 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397514967 RCV000055160 |
717 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042452 VAR_009440 CA016832 RCV000013207 rs45517214 |
717 | L>R | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome TSC2 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs182538665 RCV002256248 CA036889 RCV003153598 RCV000460097 |
718 | R>C | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Ovarian cancer [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
|
rs45517215 RCV000469825 RCV001589035 RCV000166299 CA016838 |
718 | R>H | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs45517215 RCV000042858 RCV000227547 RCV001703935 CA016844 RCV000129683 |
718 | R>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394274850 rs182538665 RCV002424739 RCV000713918 RCV001797787 |
718 | R>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002429614 RCV001046014 rs2088573975 |
719 | Y>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2088573694 RCV001051013 |
719 | Y>H | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2088573694 RCV001203472 |
719 | Y>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854358 RCV000042451 |
720 | K>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1195091149 CA394274862 RCV000816211 RCV002507425 |
720 | K>E | Tuberous sclerosis 2 Lymphangiomyomatosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs768261185 RCV001345735 CA036930 RCV003169676 |
721 | V>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs137854109 RCV000042859 |
722 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1029969953 CA276738385 RCV000644080 |
722 | L>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs764725850 RCV002429100 CA10583306 RCV000227175 |
723 | I>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000564827 rs764725850 RCV000596298 CA10583305 COSM1581875 RCV001084101 COSM1581876 |
723 | I>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
rs2088577923 RCV001058316 |
724 | F>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043015 rs137854216 |
725 | T>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000703986 rs1567467623 CA394274924 |
725 | T>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2088578578 RCV001340523 |
726 | S>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001863148 RCV001288895 rs2088578781 |
727 | P>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000223317 CA036994 RCV001216217 rs767086409 |
727 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000055597 rs397515280 |
728 | C>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042453 rs137854032 |
728 | C>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397514908 RCV000527511 CA016890 RCV000055082 |
728 | C>F | Tuberous sclerosis 2 Autism spectrum disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001304344 rs2088581254 |
729 | S>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001070850 rs2088581010 |
729 | S>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000552865 rs1555506559 RCV002431632 CA394275001 |
730 | V>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001240329 rs777308285 |
731 | D>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043385 CA016897 rs45517216 RCV000811066 RCV002426589 RCV000484682 |
732 | Q>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001044049 RCV002416360 CA037063 rs765646245 |
732 | Q>H | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002429905 rs45517216 RCV001213154 |
732 | Q>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA016906 rs45517217 RCV000043386 RCV002273946 |
733 | L>P | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000055442 rs397515163 CA016903 RCV002051805 |
733 | L>V | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs753059579 RCV001116107 |
735 | S>A | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596347589 CA394275097 RCV000795557 |
735 | S>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397515090 RCV000055333 |
736 | A>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1252599854 RCV000792185 CA394275103 |
736 | A>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001517516 CA037145 RCV002427184 COSM968419 rs764259520 COSM968418 |
736 | A>V | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1485034650 CA394275122 RCV000704720 |
737 | L>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000042862 CA016935 rs45464093 |
737 | L>P | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854247 RCV000042861 RCV002426587 |
738 | C>missing | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001348252 rs757345150 |
740 | M>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002255515 RCV000702147 rs757347786 CA037187 |
740 | M>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs757345150 RCV002485648 RCV002424627 RCV000722723 CA276738450 RCV000691766 |
740 | M>V | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10647143 RCV001204320 rs886051789 RCV002429268 RCV000305593 |
741 | L>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2088681390 RCV001242618 RCV002430031 |
741 | L>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2088681390 RCV001329369 |
741 | L>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs45517220 RCV000042456 CA017007 |
742 | S>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16615067 rs45517220 RCV000462831 |
742 | S>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394276200 RCV000541585 rs1555506852 |
743 | G>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000055520 rs397515218 |
744 | P>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000822223 CA394276212 rs1596350020 |
744 | P>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000644094 CA394276222 rs774759789 RCV002424463 |
744 | P>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs137854006 RCV000043396 RCV001852904 |
745 | K>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854110 RCV000042871 |
745 | K>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000563688 rs767770242 CA037685 RCV001086435 RCV000189995 |
746 | T>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000042873 rs137854126 |
747 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000220472 rs45517221 RCV000798482 CA10579882 |
747 | L>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000690575 CA394276291 rs1442440961 RCV001014906 |
748 | E>K | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA037732 RCV001117540 RCV000189996 RCV001087821 RCV000563830 rs766442736 |
749 | R>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs377397369 CA037721 RCV001558093 RCV000644353 RCV002422327 |
749 | R>W | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2088687656 RCV001045447 |
750 | L>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001322634 rs754885213 CA037765 |
750 | L>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA017090 RCV000043398 RCV002444499 rs45517222 RCV000519394 RCV000763365 RCV000201032 |
751 | R>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Tuberous sclerosis syndrome [Ensembl, ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000765269 rs749593050 RCV001580527 RCV000644106 RCV001014943 CA276740000 |
751 | R>Q | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10579883 rs876660553 RCV000215254 |
752 | G>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000055131 rs397514946 |
753 | A>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA017108 RCV000530366 RCV000130092 rs574205203 |
753 | A>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
rs137854021 RCV000042973 RCV001781367 |
754 | P>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2088690950 RCV001209975 |
754 | P>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001306408 rs2088691487 |
755 | E>Q | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs45517223 RCV002315685 RCV002261015 RCV000230681 CA10583307 |
758 | S>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs45517223 RCV001014862 RCV000042974 CA017135 |
758 | S>F | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1213793365 RCV001201949 CA394276566 |
760 | T>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060500920 RCV000460930 CA16615070 |
760 | T>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1319959937 RCV001049894 CA394276589 |
763 | H>Q | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA038145 RCV002444770 rs758234726 RCV003153465 RCV000814544 |
763 | H>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002446788 RCV001764381 rs777614710 RCV000464898 CA16615073 |
764 | L>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394276591 RCV000575904 rs777614710 RCV000808587 |
764 | L>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10603864 RCV000515105 RCV000564756 rs886042145 RCV001086437 |
765 | A>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs137854284 RCV000042460 |
766 | V>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002449027 CA038262 rs780682938 RCV000644214 RCV001087283 |
766 | V>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001697576 CA038245 rs150672640 RCV000234604 RCV000574918 RCV000392158 |
766 | V>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555506977 CA394276612 RCV000545258 RCV002448717 |
768 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA017166 VAR_009441 RCV000042940 rs45499191 |
769 | V>E | Tuberous sclerosis syndrome TSC2; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA394276619 RCV002221569 RCV000644138 rs762215859 |
770 | L>M | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000309089 CA10637328 RCV002446569 rs886051790 RCV000644137 |
771 | T>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs886051790 CA394276628 RCV000689366 |
771 | T>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000529435 rs1555506986 RCV002448718 CA394276625 |
771 | T>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA017172 rs397514984 RCV000055182 RCV001853089 |
772 | A>E | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000544312 rs397514984 RCV000571953 CA038376 |
772 | A>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1596350476 RCV001027852 |
773 | L>missing | Lymphangiomyomatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515276 CA017178 RCV000055591 |
773 | L>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000706843 CA394276637 rs1359991984 |
773 | L>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001015188 rs760885994 CA394276645 |
774 | I>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001066199 rs2088701360 |
775 | S>C | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002451661 RCV002493573 rs2088701360 RCV001298663 |
775 | S>F | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001194681 RCV000407429 RCV000042941 rs45517225 CA017191 |
776 | Y>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA038405 rs766382381 RCV001051826 |
776 | Y>C | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2088702417 RCV001238797 |
777 | H>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA038433 RCV002451188 rs759528809 RCV001759768 RCV001047125 |
777 | H>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001046873 rs1349953143 RCV002489595 CA394276658 |
777 | H>Y | Tuberous sclerosis 2 Lymphangiomyomatosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000456379 rs1060500946 CA16614946 RCV000566345 |
778 | N>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000700658 CA038475 rs752656474 |
779 | Y>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs137854086 RCV000043409 |
780 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394276690 rs1446097378 RCV002445280 RCV001052623 |
781 | D>E | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen gnomAD ClinVar dbSNP |
|
RCV001224287 CA394276686 rs1278830553 |
781 | D>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000043410 rs137854385 |
783 | T>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000477064 rs562945619 CA017219 RCV000166680 RCV000122213 |
783 | T>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000713919 RCV000572492 rs562945619 RCV000189997 RCV001082403 RCV000365613 CA038489 |
783 | T>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000989425 rs751172150 CA394276705 |
784 | K>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA394276707 rs1489548085 RCV002445284 RCV001053242 |
784 | K>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1489548085 CA394276706 RCV000537581 |
784 | K>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000822238 rs1596350698 |
785 | Q>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043411 CA017226 RCV000760361 rs45517226 |
785 | Q>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001079272 CA038725 RCV000415953 rs767252128 RCV001015130 |
786 | R>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002444772 RCV000700685 CA319589 rs796053511 RCV000190071 |
786 | R>H | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs767252128 RCV001304637 |
786 | R>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs45517231 RCV000042843 CA017268 |
787 | E>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002442675 CA394276933 RCV001585730 rs45517231 RCV000803364 |
787 | E>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854061 RCV000043423 |
788 | M>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000456253 CA038757 RCV002451090 rs773786955 |
788 | M>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs45485599 RCV000042981 CA017286 |
788 | M>R | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1581878 RCV002291689 CA038784 RCV002458220 COSM1581877 RCV000689736 rs748669016 |
789 | V>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000458155 RCV000215219 rs779472379 RCV001119143 CA038777 RCV003153501 |
789 | V>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs397515224 RCV000055530 |
790 | Y>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA017302 rs45517232 RCV000055199 RCV002453343 RCV001852907 CA017308 RCV000043424 |
790 | Y>* | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555507478 RCV000558201 RCV000785059 CA394276986 RCV001770441 |
790 | Y>C | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002487404 RCV000307485 RCV002450875 RCV000687605 CA038816 rs758961134 |
791 | C>F | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001304535 rs758961134 |
791 | C>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000713920 rs137854241 CA017314 RCV000043425 |
792 | L>P | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000055125 CA017321 rs137854241 |
792 | L>R | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001211891 CA394277020 rs1596356248 RCV001008684 |
793 | E>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000055204 rs397514995 |
794 | Q>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042844 rs45517233 RCV002288541 CA017333 |
794 | Q>* | Variant assessed as Somatic; impact. Tuberous sclerosis syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA394277047 rs1555507503 RCV000644064 RCV002458078 |
795 | G>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397515282 RCV000055602 |
796 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002487724 RCV000805175 RCV002453794 CA394277052 rs1596356291 |
796 | L>V | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001301419 rs1240217406 |
797 | I>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2088916279 RCV001062448 |
797 | I>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001212091 rs1240217406 CA394277059 |
797 | I>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs137854147 RCV000042845 |
798 | H>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA038855 rs375809212 RCV001712416 RCV000475414 RCV000571641 |
798 | H>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1114167463 RCV000491491 |
799 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001755846 rs1366556255 RCV001015392 CA394277095 RCV000536678 |
799 | R>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002477593 rs1567474646 CA394277098 RCV001015398 RCV000698673 |
799 | R>H | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854170 RCV000043426 |
800 | C>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042846 rs137854377 |
800 | C>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA038885 RCV001307717 rs776930735 RCV002447314 |
800 | C>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs746044783 RCV000807985 CA038900 |
800 | C>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs746044783 RCV000464220 CA16615075 |
800 | C>Y | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs137854182 RCV000042464 |
802 | S>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001119144 RCV000458103 rs200929621 CA038952 RCV001015427 |
802 | S>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA276740789 rs1015629239 RCV000687298 RCV002442424 |
802 | S>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1015629239 RCV001810690 RCV001371873 |
802 | S>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001202863 rs45517234 RCV000042465 CA017379 |
803 | Q>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000705188 CA394277160 COSM1609068 RCV001015436 rs1400548727 COSM1609069 RCV001299316 |
803 | Q>H | Tuberous sclerosis 2 liver Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinVar dbSNP ClinGen cosmic curated gnomAD |
|
rs137853995 RCV000201105 RCV000042990 RCV000189999 CA017384 |
804 | C>R | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000691498 CA038994 rs768683470 RCV002442445 |
805 | V>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000811110 rs1285249923 RCV002442713 CA394277221 |
806 | V>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000525436 RCV000189907 rs796053473 RCV001015274 CA319361 |
806 | V>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs397514911 RCV000055086 |
808 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000190000 rs796053489 CA319474 RCV002453703 |
808 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA017395 RCV000042848 rs45489791 RCV001250499 |
808 | L>S | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878854082 RCV000231818 |
810 | I>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394277291 RCV001319037 rs1196792438 RCV002447351 |
810 | I>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000042466 rs137853997 |
811 | C>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000535705 RCV003153712 CA039041 rs375030314 RCV001015534 |
813 | V>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA394277390 rs45485395 RCV000799704 |
814 | E>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042467 rs45485395 CA017424 |
814 | E>K | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394277429 RCV001034752 CA394277432 rs1203344843 |
815 | M>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen gnomAD ClinVar dbSNP |
|
CA394277438 RCV000550605 rs760265207 |
816 | P>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_008026 rs45517236 RCV000043451 CA017430 RCV000430436 RCV001705694 |
816 | P>L | Tuberous sclerosis 2 Tuberous sclerosis syndrome TSC2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001041714 rs2088927807 |
818 | I>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002259029 rs1596356585 RCV000819204 RCV000996155 CA394277470 |
818 | I>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA039097 rs754451657 RCV002447407 RCV001343167 |
820 | I>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs754451657 RCV001221532 RCV002447115 |
820 | I>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854128 RCV000042853 RCV000201194 RCV001260837 RCV001561464 |
820 | I>missing | Tuberous sclerosis 2 Intellectual disability Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA017467 rs45517237 RCV000042854 |
821 | K>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000475520 RCV000492042 rs936484229 CA16614739 |
822 | A>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs137853992 RCV000043452 |
824 | P>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043453 rs137854206 |
824 | P>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394277628 rs1596356675 RCV000800422 |
824 | P>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2088931795 RCV001053378 |
824 | P>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs149860212 CA039138 RCV000693895 |
825 | V>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs149860212 CA039144 RCV000458453 RCV002451086 |
825 | V>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2088933078 RCV001250759 |
826 | L>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000989426 RCV000034649 VAR_005652 rs45517238 RCV000163390 RCV000176271 RCV000054857 CA017492 RCV001770051 |
826 | L>M | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome TSC2 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000473440 rs45517239 CA017496 RCV000043016 |
826 | L>P | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs45517238 RCV000793650 CA394277660 |
826 | L>V | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000768121 CA039169 RCV001043364 rs543738044 |
827 | V>M | Tuberous sclerosis 2 Lymphangiomyomatosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000768120 RCV000807636 rs1596356726 |
828 | V>missing | Tuberous sclerosis 2 Lymphangiomyomatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA276740871 RCV002424709 RCV000705103 rs150178524 |
828 | V>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV002431450 RCV000498400 rs1555507617 CA394277728 RCV001309670 |
829 | K>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394277759 rs1596356808 RCV000806834 |
830 | L>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000043017 rs137854047 CA017503 |
830 | L>R | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854379 RCV000043018 |
831 | T>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001218677 rs774380711 |
831 | T>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs774380711 RCV001313937 RCV002431887 CA039254 |
831 | T>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001203262 rs2088938668 |
832 | H>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001226082 rs2088939242 |
832 | H>Y | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055128 rs397514944 |
833 | I>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854286 RCV000042468 |
833 | I>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000989427 rs1596356898 CA394277837 |
834 | S>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs139919040 RCV002431634 RCV000553299 CA039285 |
837 | A>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001059669 CA394277906 rs876660457 RCV001015747 |
839 | M>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002485432 RCV000213692 RCV000820753 rs876660457 CA10579886 |
839 | M>V | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM35461 CA10583310 RCV000227059 RCV002450674 RCV000277301 rs549612492 |
841 | V>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome central_nervous_system Tuberous sclerosis syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV000042868 rs137854375 RCV001380263 |
842 | P>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042869 rs137854372 |
844 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515303 RCV000055123 RCV001253278 CA017563 |
844 | L>P | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001347506 rs397515303 |
844 | L>Q | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055326 rs397515303 CA017569 |
844 | L>R | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000824317 rs1596357053 CA394277971 |
844 | L>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002291628 rs764608837 RCV000458545 CA039405 RCV002257697 |
845 | E>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA017575 RCV000042870 rs45509000 |
846 | F>Y | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000473256 rs1060500938 |
847 | L>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043336 RCV001852877 rs137854140 RCV000042471 |
847 | L>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA017591 rs45517240 RCV000043337 |
847 | L>P | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000469331 rs1060500922 CA16615079 |
848 | S>C | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16607307 RCV001079672 RCV001015871 rs781713438 RCV000432659 |
849 | T>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001217944 rs2089256835 |
850 | L>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491444 RCV001852902 RCV000043343 rs45517248 CA017661 |
850 | L>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001309925 RCV002437059 rs2089256658 |
850 | L>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596364874 CA394278281 TCGA novel RCV000798948 |
851 | A>V | Tuberous sclerosis 2 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA Ensembl dbSNP |
|
CA16614689 RCV000459593 rs1060500959 |
854 | P>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1180511535 RCV001770442 RCV002456153 CA394278313 RCV000552388 |
854 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1180511535 RCV001345054 RCV002456494 |
854 | P>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394278309 RCV000546626 rs1060500959 |
854 | P>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000821328 rs143537386 RCV002427060 CA394278330 |
855 | H>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1424946987 RCV001034957 CA394278326 RCV002427477 |
855 | H>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001044014 rs2089261042 |
856 | L>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001015971 rs1596364980 CA394278335 RCV001860810 |
856 | L>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001091442 RCV002429101 CA10583311 rs878854084 RCV000230556 |
857 | Y>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2089261730 RCV001049089 |
858 | R>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394278357 RCV000809897 rs1596365022 |
858 | R>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878854085 RCV000234558 CA10583312 RCV002450675 |
859 | N>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000043067 rs137854264 |
862 | A>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs759837836 RCV000407000 RCV001086946 CA017691 RCV000164859 |
862 | A>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs45517249 RCV001087230 CA017697 RCV002255269 VAR_018600 RCV000043344 RCV000612238 |
862 | A>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA017705 RCV000043346 rs45517250 RCV001211580 RCV002247427 |
864 | Q>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002458444 rs763099064 CA040176 RCV000798458 RCV001759515 |
864 | Q>H | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001345936 rs45517250 |
864 | Q>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002425218 RCV001903837 rs796053490 RCV002478337 |
866 | A>S | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555508378 RCV001236450 |
866 | A>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000816217 CA394278408 rs1596365202 |
867 | S>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA040228 RCV001045618 rs751702841 RCV002429609 |
867 | S>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2089267892 RCV001341036 |
868 | V>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001202352 rs2089267679 |
868 | V>M | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs750336814 RCV002507036 RCV002441033 CA319480 RCV001935601 |
869 | F>L | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs137854092 RCV000042834 |
870 | A>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060500975 RCV001218321 |
870 | A>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16614956 RCV000473443 rs1060500975 |
870 | A>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA394278426 rs1060500975 RCV001016049 RCV001860812 |
870 | A>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002493703 RCV001325688 rs2089269466 |
871 | I>T | Tuberous sclerosis 2 Lymphangiomyomatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001243707 rs2089270984 |
873 | L>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001213335 rs2089271727 |
873 | L>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs138527121 CA276741554 RCV000571394 RCV001047205 |
874 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
RCV001050170 rs2089272680 |
875 | Y>D | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA040372 rs768490850 RCV001308657 |
876 | T>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2089273762 RCV001238963 |
877 | N>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854097 RCV000043465 |
877 | N>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001238657 rs45517251 |
877 | N>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001016173 CA394278469 rs1567482364 RCV000693788 |
877 | N>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001071989 CA276741564 rs397515077 RCV002451312 |
878 | P>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1060500925 CA16615080 RCV000473425 |
878 | P>H | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000644061 RCV000562671 RCV000055315 RCV000055380 rs397515077 CA017740 RCV000189909 |
878 | P>S | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Autism spectrum disorder [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs397514943 RCV000055127 |
879 | S>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394278481 RCV000560529 rs1555508444 |
879 | S>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2089276233 RCV003163679 RCV001218754 |
880 | K>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042840 rs137854030 |
881 | F>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA017793 RCV000042978 rs45463498 |
881 | F>L | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042841 RCV002255124 RCV001252981 rs45476100 CA017805 |
883 | Q>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs45476100 CA10583314 RCV000232046 |
883 | Q>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394279216 RCV001232475 rs1060504116 |
885 | I>M | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1555508581 CA394279208 RCV000644070 |
885 | I>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002455934 RCV000487076 CA16620093 CA394279221 RCV001037910 rs999523698 RCV000644131 |
886 | V>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA276741693 RCV001045541 rs999523698 |
886 | V>M | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060500914 RCV000463722 |
887 | C>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002426586 RCV001508399 rs137854232 RCV000042479 |
887 | C>missing | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042480 rs45475594 RCV003114222 CA017829 |
887 | C>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000799797 rs1596366593 |
888 | L>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055344 rs397515098 |
889 | A>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001853092 CA017834 rs397515054 RCV000055281 |
889 | A>P | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397515054 RCV000544797 CA394279260 |
889 | A>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000201152 rs137854155 RCV002433527 CA017841 RCV000042847 |
889 | A>V | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854068 RCV000042988 |
890 | H>L | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002264970 RCV001016255 rs145258407 RCV000644267 CA040850 |
890 | H>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000055074 rs397514900 |
891 | H>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2089316693 RCV001046163 RCV002429615 |
891 | H>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515000 RCV000055211 |
892 | V>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000644069 rs376801256 RCV002424462 CA276741706 |
892 | V>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000042989 rs137854276 |
893 | I>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000190005 RCV002426918 RCV000644168 CA319484 rs796053491 |
893 | I>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001770443 RCV002438411 CA040893 RCV000559686 rs777282955 |
894 | A>V | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001315084 rs1284083563 CA394279351 |
895 | M>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002514175 VAR_009442 rs45470695 RCV000043357 RCV002426588 CA017875 |
895 | M>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome TSC2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000055089 RCV000233779 rs397514913 CA017887 |
896 | W>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA017881 RCV000043358 rs45517254 |
896 | W>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394279364 rs1567483855 RCV000703391 |
896 | W>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042856 RCV000336828 rs45517255 CA017895 |
897 | F>S | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2089322279 RCV001037894 |
899 | R>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA017912 rs45517256 RCV000042857 |
899 | R>S | Variant assessed as Somatic; impact. Tuberous sclerosis syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001054715 CA017927 RCV000043359 rs45517257 |
900 | C>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1230661 rs796053512 CA319592 RCV001016356 RCV000231440 COSM1230660 |
901 | R>C | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome prostate [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA394279440 rs1273957629 RCV002438706 COSM702358 RCV001314690 COSM702359 |
901 | R>H | lung Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA394279443 rs1273957629 RCV001315705 |
901 | R>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2089324682 RCV001057273 |
903 | P>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854291 RCV000043360 |
904 | F>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA041007 RCV001705067 rs137920189 RCV000567626 RCV000203097 RCV001304571 RCV003166723 |
904 | F>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001213696 rs2089325564 |
904 | F>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515007 RCV000055221 |
905 | R>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000013214 CA017936 rs45517258 RCV000042482 |
905 | R>G | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000221069 rs45517259 RCV000042875 RCV002482858 VAR_005653 RCV000255572 CA017951 RCV000013212 |
905 | R>Q | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome TSC2 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs45517258 VAR_005654 RCV000042962 RCV000482063 CA017942 RCV001536008 RCV000013213 RCV002426499 |
905 | R>W | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Tuberous sclerosis syndrome TSC2 [Ensembl, ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
rs397515243 CA017956 RCV000055554 |
906 | K>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042876 rs137854073 |
907 | D>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055514 rs397515213 |
907 | D>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2089328474 RCV001307613 RCV003222300 |
907 | D>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001016393 CA394279514 rs1287273870 |
907 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002431635 rs1287273870 CA394279516 RCV000537208 |
907 | D>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs137854067 RCV000042483 |
910 | P>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001773508 rs1319146226 CA394279566 RCV002429960 RCV001225869 |
910 | P>S | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001815175 RCV000042485 rs137854328 |
911 | F>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA041055 RCV002281138 rs774758044 RCV000821573 RCV001016431 |
911 | F>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs774758044 RCV001209738 |
911 | F>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055370 rs397515113 |
912 | I>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001239234 rs2089331902 |
914 | K>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA018012 rs137854877 RCV000043371 |
914 | K>N | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1422374195 RCV002507098 RCV001016458 RCV000644189 CA394279626 |
914 | K>Q | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1405342761 CA394279630 RCV001210824 |
914 | K>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs137854405 RCV000043381 CA018075 |
916 | L>R | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16614693 RCV000464781 rs397515046 |
917 | R>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001531839 RCV000533205 CA018086 RCV000574785 RCV000055272 rs397515046 |
917 | R>Q | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA041738 rs781587135 RCV000554781 RCV002438413 |
917 | R>W | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs397515165 RCV000055446 CA018092 |
918 | S>C | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001209877 rs780057014 |
919 | N>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000190007 RCV001016513 rs780057014 CA041783 RCV001086210 |
919 | N>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs749383639 CA041795 RCV000543543 RCV002438414 |
920 | V>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001704039 RCV002256078 CA018107 rs201835391 RCV000471145 RCV000122214 |
921 | L>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1555508929 RCV000505584 RCV000660344 |
922 | L>missing | Bone osteosarcoma Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043031 RCV000043032 rs137854112 |
922 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2089404994 RCV001230407 |
922 | L>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055468 rs397515179 |
923 | S>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003148650 rs587778731 RCV002256079 RCV000122215 RCV000817259 CA018139 |
923 | S>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000796874 rs587778731 RCV003224474 RCV002440644 CA394279890 |
923 | S>F | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000660345 rs1555508938 |
924 | F>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043033 rs137854402 |
924 | F>* | Lymphangiomyomatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043384 rs137854202 |
925 | D>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001016551 rs1555508942 CA394279903 RCV000547229 |
925 | D>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394279912 rs766039435 RCV001016558 RCV001873276 |
926 | D>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA394279934 rs144329595 RCV001049308 RCV000562822 |
927 | T>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV002491707 RCV001224033 rs144329595 RCV001587251 RCV002255633 CA276742096 |
927 | T>N | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs1420034406 RCV001202376 |
927 | T>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042831 rs137854098 |
929 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042491 RCV000043046 rs34245038 |
929 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs45517268 CA018189 RCV000043047 |
929 | E>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA276742111 RCV003163205 rs968144525 RCV000696709 |
929 | E>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000563535 RCV000924510 rs45517268 CA041991 RCV001577990 |
929 | E>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA16614700 RCV000477313 RCV002436400 RCV001584140 rs1060500935 |
930 | K>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596369527 CA394279985 RCV002434133 RCV000873551 |
930 | K>E | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2089411255 RCV001309423 |
931 | D>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515138 CA018200 RCV000055402 |
932 | S>N | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000556585 CA018204 RCV000042492 rs45517269 RCV002433524 |
933 | F>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555508975 RCV000793311 CA394280098 |
935 | A>D | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001319082 rs979456797 |
935 | A>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA276742120 RCV001045773 RCV002256657 rs979456797 |
935 | A>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV003162910 CA394280095 RCV000644104 rs1555508975 |
935 | A>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394280157 rs1567486660 RCV000706216 |
938 | T>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000043466 rs137853975 |
940 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002434030 RCV000824363 CA394280196 rs1378325757 |
940 | L>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10583315 RCV002433957 RCV000232107 rs878854087 RCV000413302 |
941 | N>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001321396 rs2089415203 |
941 | N>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA018233 RCV001040727 RCV000506994 RCV000043109 rs45517270 |
942 | E>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1018951391 CA276742132 RCV001016700 RCV000644215 |
942 | E>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000810139 CA394280216 rs1596369682 |
943 | R>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001551212 RCV000319884 rs886051791 CA10648020 RCV002436165 RCV000686655 |
945 | K>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394280733 RCV001755847 RCV002438416 RCV000534078 rs1555509447 |
947 | L>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555509449 RCV000549003 CA394280749 |
948 | R>M | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596374592 RCV001237394 CA394280767 |
949 | I>M | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2089576147 RCV001313081 RCV002437072 |
949 | I>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000380149 rs886051792 CA10648021 RCV000644124 |
950 | A>P | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001308492 CA042406 RCV001016781 rs780737734 |
950 | A>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs45517273 RCV001208145 RCV002433528 RCV000042983 CA018279 |
951 | R>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001237775 rs1216438701 RCV002436934 |
951 | R>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2089578491 RCV002436570 RCV001045032 |
952 | P>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002440302 CA042455 rs745456980 RCV000644203 |
952 | P>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001232186 rs745456980 RCV000574481 CA394280811 |
952 | P>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA394280845 RCV000805517 rs1303011979 |
953 | P>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000190060 RCV002433860 RCV000805489 rs796053504 |
954 | K>missing | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055484 CA018289 rs397515191 RCV002433552 RCV000814702 |
954 | K>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Autism spectrum disorder [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA394280888 RCV001016820 RCV001860841 rs1596374761 |
955 | Q>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001220042 rs1596374761 |
955 | Q>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1057518322 RCV000796517 RCV000414692 |
956 | G>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000567492 rs769199118 CA394280916 RCV002529000 |
956 | G>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs772755332 RCV002434456 RCV001040710 |
957 | L>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200030367 CA042506 RCV001241434 |
957 | L>W | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000688537 CA394280959 rs1567490706 |
958 | N>D | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001703961 RCV000574177 RCV000467647 rs397515104 CA018300 RCV000055350 |
958 | N>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA276743943 rs147523833 RCV000686410 RCV001016871 |
959 | N>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000542292 CA276743945 rs1005027685 RCV002438417 |
960 | S>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs397514898 RCV000817515 CA394281004 |
960 | S>C | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs397514898 RCV000055072 CA018305 |
960 | S>F | Autism spectrum disorder [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001212092 RCV002436816 rs2089583790 |
961 | P>missing | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000799042 rs370415754 RCV003117590 CA042547 RCV002440661 |
961 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001339793 rs2089584361 |
961 | P>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001241504 rs2089584361 |
961 | P>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394281032 rs1477697117 RCV001860843 RCV001016854 |
962 | P>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000042494 VAR_009443 rs45517275 RCV001016860 RCV001563228 RCV000460965 CA018311 RCV002271386 |
963 | V>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome TSC2; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1596375009 CA394281070 RCV000801041 |
964 | K>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000697283 rs1567490884 CA394281128 RCV002440488 |
966 | F>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2089588117 RCV001036214 |
967 | K>M | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1168031047 CA394281176 RCV001240521 RCV001508400 RCV001016919 |
967 | K>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002487740 CA042638 rs765438249 RCV002440730 RCV000808462 |
968 | E>D | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Variant assessed as Somatic; 4.622e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV002438418 RCV000548090 RCV002286755 rs1460562160 |
968 | E>missing | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000792168 rs1596375143 CA394281267 |
971 | A>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567490981 RCV002440550 RCV000707058 CA394281276 |
972 | A>T | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001059121 rs2089590552 |
972 | A>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM3701060 RCV002507412 RCV001759564 RCV000810880 CA042754 COSM3701059 rs780981335 RCV002440748 |
973 | E>K | Tuberous sclerosis 2 liver Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP |
|
CA394281294 RCV000694077 rs780981335 |
973 | E>Q | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001053966 RCV002436612 rs556778889 CA276743978 |
974 | A>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV002484259 CA042829 RCV002436898 RCV001230672 RCV001773522 rs779832805 |
976 | R>P | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002438771 RCV001339381 rs779832805 CA042821 |
976 | R>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA042810 RCV002311770 rs769527912 RCV000462321 |
976 | R>W | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2089593473 RCV003166664 RCV001297678 RCV003127766 |
977 | C>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001298928 rs2089593679 |
978 | R>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000480699 RCV000575219 rs768241596 RCV001087822 CA042875 |
978 | R>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394281405 RCV000804786 rs768241596 RCV001017562 |
978 | R>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001797686 RCV000522031 rs876660733 CA10579891 RCV000221877 |
978 | R>H | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs876660733 RCV002440756 CA394281419 RCV000811502 |
978 | R>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002486118 RCV001295665 rs2089595149 |
981 | S>G | Tuberous sclerosis 2 Lymphangiomyomatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001347050 RCV003169695 rs1596375342 |
981 | S>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000810257 rs1596375336 CA394281457 |
981 | S>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA042926 rs773864188 RCV001049127 |
982 | V>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs759786102 RCV002440551 CA042975 RCV000707088 RCV001575500 |
983 | S>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA018322 RCV001362788 rs397515156 RCV000055430 |
984 | E>Q | Tuberous sclerosis 2 Autism spectrum disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394281541 RCV000696995 RCV001017661 rs1330306605 |
985 | H>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA394281569 RCV001017664 rs1596375441 |
986 | V>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003166162 RCV000797775 CA043009 rs765489754 |
986 | V>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1391148381 CA394281583 RCV000696726 |
987 | V>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002438801 RCV001346396 rs2089598568 |
987 | V>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000556209 rs763047420 CA043032 RCV001755848 |
988 | R>C | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA043038 RCV002255448 RCV000530166 rs397515306 |
988 | R>H | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002496737 RCV001579979 rs397515306 RCV000564184 RCV001725962 RCV000055201 CA018328 RCV000463832 |
988 | R>P | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1567491278 RCV000704034 CA394281606 |
989 | S>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000644227 CA394281615 RCV002440303 rs1555509538 |
989 | S>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001017697 CA043555 RCV000189913 RCV000807950 rs753730009 |
990 | R>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000055476 rs397515185 |
991 | I>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002433859 CA319491 RCV001044377 rs369524855 |
991 | I>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
rs2089786684 RCV001059000 |
992 | Q>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042496 rs137854231 |
992 | Q>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042495 rs45438592 CA018343 RCV002433525 |
992 | Q>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Tuberous sclerosis syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000042863 rs137854287 |
993 | T>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043037 RCV000835930 RCV000572983 RCV001727551 rs137854410 CA018367 RCV001079774 |
993 | T>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001859182 rs752248140 CA043622 RCV002436770 RCV001196013 |
995 | L>I | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA043628 rs139753238 RCV000231299 RCV001705073 RCV000561234 |
996 | T>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000821172 CA394283647 rs1596382185 |
996 | T>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397515269 RCV000055583 |
997 | S>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555510209 RCV000644218 CA394283662 |
997 | S>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596382214 CA394283670 RCV000794959 |
997 | S>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001216560 rs1596382214 |
997 | S>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854324 RCV000043436 |
998 | A>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1440361406 RCV001300515 |
998 | A>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394283691 rs1440361406 RCV001017831 RCV001239016 RCV001805973 |
998 | A>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001068922 rs2089790275 |
998 | A>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001805880 RCV002440728 RCV002487738 CA043657 rs777089012 RCV000808265 |
999 | S>C | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs149808366 RCV001210406 |
999 | S>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002257992 RCV001568109 rs149808366 CA043671 RCV000823012 |
999 | S>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs149808366 CA394283753 RCV000804142 RCV001017863 |
999 | S>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000989428 rs1596382268 |
1000 | L>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003153493 RCV000574771 rs368878445 RCV000218870 RCV000477004 CA043736 |
1001 | G>E | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002436554 RCV001041579 CA043753 rs368878445 |
1001 | G>V | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA043825 rs748261129 RCV000691869 |
1002 | S>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555510234 RCV000558930 RCV002438421 CA394283816 RCV002469193 |
1003 | A>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001327545 rs772328985 |
1004 | D>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055355 rs397515107 |
1006 | N>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002433551 rs397514985 CA018420 RCV000055183 RCV000644223 |
1008 | V>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA018426 rs45517278 RCV000042804 |
1009 | A>S | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394283977 rs1567496227 RCV000702308 |
1009 | A>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs45514100 RCV000042805 CA018430 |
1010 | Q>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA044006 rs45514100 RCV000230846 RCV001018163 RCV001551091 |
1010 | Q>E | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002438422 RCV001764574 CA394284019 RCV000532858 rs776658284 |
1010 | Q>H | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000800901 rs1596382441 |
1011 | A>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001224039 rs144997264 |
1012 | D>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042497 rs137854301 |
1013 | D>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002436402 RCV000761103 CA16615087 RCV000475335 rs1060500961 |
1013 | D>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs45517279 RCV000043439 RCV000644084 RCV000564158 CA018445 |
1013 | D>N | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA276745198 rs1034696882 RCV001320906 |
1018 | L>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394284351 rs1555510317 RCV000569050 RCV001297342 |
1019 | H>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394284354 rs1555510317 RCV001018338 RCV001231772 |
1019 | H>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001202356 rs2089797662 |
1019 | H>Y | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055509 rs397515211 |
1020 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2089798643 RCV001773692 RCV001347346 |
1020 | L>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002445257 RCV001049025 rs2089798819 |
1023 | T>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394284491 RCV001018436 RCV000644201 rs1555510327 |
1023 | T>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16614966 RCV000468905 rs1060500960 |
1024 | E>K | Tuberous sclerosis 2 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000042498 rs137854334 |
1026 | C>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_022919 rs45438192 RCV001216513 RCV000043140 CA018468 |
1027 | L>P | Tuberous sclerosis 2 Tuberous sclerosis syndrome TSC2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs397515255 CA018479 RCV000055568 |
1028 | D>G | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs45517280 RCV000042807 CA018473 |
1028 | D>N | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001861998 CA394284667 RCV000713923 rs1567496821 |
1030 | M>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567496821 CA394284665 RCV000696873 |
1030 | M>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002323631 CA044156 rs754276150 RCV000456443 RCV000433002 |
1030 | M>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs397515231 RCV000055540 |
1032 | R>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000404065 rs45465195 RCV000042499 RCV002483039 CA018490 RCV000462671 |
1032 | R>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Lymphangiomyomatosis Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000043307 RCV001197943 rs137854157 RCV002514173 |
1032 | R>* | Tuberous sclerosis 2 Lymphangiomyomatosis Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs45465195 RCV001018565 CA394284692 |
1032 | R>G | Tuberous sclerosis 2 (tsc2) Hereditary cancer-predisposing syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA018497 rs45491698 RCV000042500 RCV000201071 |
1032 | R>P | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002325263 rs45491698 CA044175 RCV000644224 |
1032 | R>Q | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA018510 RCV000484132 RCV000042998 rs137854015 |
1033 | Y>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000806140 RCV002285261 RCV000043000 CA018520 RCV000042999 RCV002266916 RCV000760362 CA018525 rs45464800 |
1033 | Y>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000043306 CA018504 RCV001043250 rs137854404 |
1033 | Y>H | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs146745242 RCV001059740 |
1034 | V>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000571036 RCV000468896 RCV001770294 CA044207 rs146745242 RCV001698259 |
1034 | V>I | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1114167461 RCV000491500 |
1035 | F>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001857665 CA319496 rs45517281 RCV000190012 |
1036 | S>A | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA018541 RCV000043309 RCV000190879 rs45517281 |
1036 | S>P | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001201476 rs2089806008 |
1037 | N>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567497089 RCV000689493 CA394284879 |
1038 | F>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042814 rs137853989 |
1039 | T>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002325565 RCV000805766 rs1596382895 RCV002495100 CA394284894 TCGA novel |
1039 | T>M | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA Ensembl dbSNP |
|
RCV001236118 CA044288 RCV002322130 rs745731000 RCV002260690 |
1042 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394284968 RCV000700690 rs745731000 |
1042 | P>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs137854070 RCV000042501 |
1043 | K>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515302 CA018596 RCV000055531 RCV001388145 |
1044 | R>K | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA018603 rs397515302 RCV000055118 |
1044 | R>M | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394285144 RCV002325386 rs1567497647 RCV000692769 |
1045 | S>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596383557 RCV000824212 CA394285134 |
1045 | S>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000539203 rs774008119 CA394285157 |
1046 | P>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs45517284 RCV000727358 CA018645 RCV001086743 RCV000163970 RCV000042825 RCV001770060 RCV000122221 |
1047 | V>A | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA044563 RCV001228974 rs761513970 |
1047 | V>M | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA394285222 RCV000821196 rs796053492 |
1049 | E>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000562972 rs796053492 RCV001085820 CA319501 RCV000190014 RCV001770140 RCV000766975 |
1049 | E>K | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [Ensembl, ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs796053492 RCV001205088 |
1049 | E>Q | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000228906 rs878854091 CA10583318 |
1052 | L>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA044608 RCV002323694 RCV000470486 rs760214724 |
1053 | A>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000055389 rs397515127 |
1057 | T>missing | Lymphangiomyomatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001018950 rs1596383758 CA394285450 |
1057 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001217227 rs753205147 CA044645 |
1059 | T>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000190069 RCV000801616 rs796053509 CA319583 |
1060 | W>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs45517285 RCV000042826 CA018659 |
1060 | W>R | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2089827541 RCV001346894 |
1060 | W>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491308 RCV000055098 CA018665 rs397514919 |
1061 | L>P | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000461734 CA16614757 rs397514919 |
1061 | L>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000644176 CA394285550 rs946673791 |
1061 | L>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2089828784 RCV001041777 |
1063 | G>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567498041 RCV000701005 |
1064 | N>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394285620 RCV001019085 RCV001083071 RCV002258838 RCV001051568 RCV000734482 CA044699 rs201670791 |
1064 | N>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001316948 RCV002499614 rs758690821 CA044681 RCV003166820 |
1064 | N>S | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA044710 RCV001059859 rs751955670 |
1065 | K>Q | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000402137 CA10648022 RCV000698685 rs886051793 |
1066 | L>F | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002298458 RCV000055504 RCV000498705 CA018667 rs397515207 |
1066 | L>P | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001059279 rs886051793 |
1066 | L>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854177 RCV000043316 |
1067 | V>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs200681169 RCV000525625 CA044723 |
1067 | V>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000055605 CA018678 RCV001042510 rs397515284 |
1068 | T>I | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397515284 RCV001308024 |
1068 | T>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000467462 CA16615089 rs1060500947 |
1068 | T>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002321535 RCV000201154 RCV000727088 rs137854076 RCV000042505 |
1069 | V>missing | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001577170 CA044749 RCV000491778 RCV000542621 rs147989574 |
1070 | T>M | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000574600 CA16615090 RCV000513743 RCV000465303 rs45498892 |
1071 | T>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA018689 RCV002513616 rs45498892 RCV000042506 |
1071 | T>R | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000043068 rs137854106 |
1072 | S>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA044793 RCV000226848 RCV001019293 rs749192298 |
1073 | V>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000043069 rs137854384 |
1074 | G>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397514962 RCV000055153 |
1074 | G>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2089833187 RCV001213521 |
1074 | G>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA044809 RCV002442767 rs768568810 RCV000823728 |
1075 | T>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA018717 rs397515024 RCV000797820 RCV000055244 |
1075 | T>I | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397515024 RCV001226403 |
1075 | T>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000531095 rs747910305 CA044834 RCV002321770 RCV000765271 |
1076 | G>R | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs397515115 RCV001250764 RCV000055375 |
1077 | T>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA018728 RCV000043070 rs137854279 |
1077 | T>I | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA044900 RCV002446790 rs368095502 RCV000457622 |
1078 | R>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000574231 rs78956195 RCV000469143 CA044888 |
1078 | R>W | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2089834376 RCV001209272 |
1079 | S>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000190073 CA018734 RCV001853094 RCV000055329 rs397515087 RCV002496738 |
1079 | S>* | Tuberous sclerosis 2 Lymphangiomyomatosis Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555510643 RCV000644188 CA394286037 |
1079 | S>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397515061 RCV000055292 |
1080 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2089838149 RCV001223302 |
1080 | L>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000644134 rs371514669 CA044925 RCV002449026 RCV003128676 |
1080 | L>F | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001235796 rs2089839896 |
1083 | L>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001281333 rs2089840483 |
1084 | D>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA018744 VAR_005655 rs45517286 RCV000042507 RCV000229678 |
1084 | D>E | Tuberous sclerosis 2 Tuberous sclerosis syndrome TSC2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs45517287 RCV000043321 CA018749 |
1085 | S>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000463902 RCV000571612 rs45517287 CA16614705 |
1085 | S>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs137854302 RCV000222697 RCV001062164 |
1086 | G>missing | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000694778 RCV000043322 RCV000055230 rs137854302 RCV002321536 RCV001781368 |
1087 | E>missing | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515044 RCV000055270 |
1087 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA018783 RCV001852891 rs45438093 RCV000042849 |
1087 | E>D | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394286183 RCV000701916 rs1085307762 |
1087 | E>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA018787 RCV000042850 rs45517288 |
1089 | Q>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001340149 rs2089843844 |
1089 | Q>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596384471 RCV001321261 |
1090 | S>C | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060500936 RCV001796059 RCV000464604 RCV001019532 CA16615094 |
1090 | S>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394286242 rs1596384471 RCV000819327 |
1090 | S>Y | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854213 RCV000042851 |
1091 | G>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2089845275 RCV001302140 |
1091 | G>D | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA319506 rs796053493 RCV001085830 RCV001019560 RCV000190017 |
1091 | G>S | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000055342 rs397515096 |
1092 | P>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000130015 RCV000471098 CA018797 rs587781774 RCV000189914 |
1092 | P>L | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001349658 rs2089845906 |
1092 | P>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA319509 rs796053494 RCV000190018 RCV000688940 |
1093 | E>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001050609 rs1182829976 CA394286278 |
1093 | E>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001223699 rs397514887 |
1094 | S>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397514887 RCV002496735 RCV000055056 RCV000472588 CA018808 RCV001019643 RCV001545684 |
1094 | S>L | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000221766 CA045126 rs397514887 RCV002251447 RCV001341323 |
1094 | S>W | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001343348 rs2089847209 |
1095 | S>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA018827 RCV000043324 RCV002321537 RCV001042713 rs1555510754 |
1095 | S>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394286436 RCV001230660 rs140772300 RCV002447152 |
1096 | S>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001721496 CA045537 RCV000569892 RCV000464873 rs140772300 |
1096 | S>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002449025 RCV000644065 CA045529 rs755815612 |
1096 | S>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1060500912 RCV000457070 CA16614709 RCV002323692 |
1097 | S>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394286453 RCV002447159 RCV001231681 rs1173297358 |
1097 | S>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001567190 RCV000468858 CA045588 RCV000575419 rs773545852 |
1098 | P>L | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA045581 RCV000544493 rs773545852 RCV002316560 |
1098 | P>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA045567 RCV001045100 rs772686090 RCV001019713 |
1098 | P>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001194682 rs397515048 |
1099 | G>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000461466 CA045612 rs776855601 RCV001019752 RCV001731687 |
1099 | G>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000055274 rs397515048 |
1100 | V>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854162 RCV000043051 RCV002453341 |
1100 | V>missing | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394286492 rs1596385749 RCV001019771 RCV001246438 RCV001047588 |
1100 | V>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002451212 rs1596385749 RCV001051401 |
1100 | V>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000473095 CA16615107 rs1060500933 |
1101 | H>Y | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001756075 CA045672 RCV000644133 RCV001019823 rs775584262 |
1102 | V>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000055240 rs397515022 |
1103 | R>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055473 rs397515183 |
1104 | Q>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042509 rs137854018 RCV000545419 |
1104 | Q>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397514978 RCV000814891 CA018873 RCV000055175 |
1104 | Q>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397514978 RCV001050466 |
1104 | Q>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001042768 rs2089870323 |
1105 | T>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002507202 rs946381749 RCV000691658 CA276746101 |
1105 | T>I | Tuberous sclerosis 2 Lymphangiomyomatosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA045694 RCV001853809 RCV000562552 rs764113584 |
1106 | K>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1596385905 RCV000806055 CA915946294 |
1107 | E>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000130032 RCV000836828 rs587781782 RCV001087672 CA018885 |
1108 | A>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555510880 CA394286595 RCV002323987 RCV000533842 RCV002291660 |
1109 | P>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000490959 RCV000546326 rs796053474 CA319368 RCV000189915 |
1109 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000055228 rs397515013 |
1110 | A>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000461553 rs1060500923 CA16614990 RCV001019998 |
1110 | A>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002322119 CA394286599 rs1260370117 RCV001232487 |
1110 | A>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000702497 rs1260370117 CA394286601 |
1110 | A>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001876287 rs2089873322 RCV001200213 |
1112 | L>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515144 RCV000055411 |
1113 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000690504 rs1567500491 CA394286617 |
1113 | E>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001044637 rs2089874614 RCV002320259 |
1114 | S>missing | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA018915 RCV000042511 rs137854253 RCV000801625 |
1115 | Q>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002325429 rs1567500517 RCV002493241 RCV000704842 |
1115 | Q>missing | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001213878 rs1323724570 CA394286636 |
1115 | Q>H | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen gnomAD ClinVar dbSNP |
|
rs878854092 CA10583319 RCV002321858 RCV000226898 |
1116 | A>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1369469515 CA394286638 RCV000815034 |
1116 | A>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs878854092 RCV000385672 RCV002321950 RCV001056326 CA10604356 |
1116 | A>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854003 RCV000043061 |
1117 | G>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854042 RCV000043060 |
1117 | G>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001280880 rs45496291 RCV000043062 CA018941 |
1118 | Q>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2089877003 RCV001319647 |
1118 | Q>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA018947 rs45517292 RCV000043329 RCV001230710 |
1119 | Q>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1309073649 CA394286662 RCV001344525 |
1119 | Q>H | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA394286659 rs1567500641 RCV002325426 RCV000703754 RCV002274092 |
1119 | Q>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA018952 rs397514895 RCV000055069 |
1120 | V>E | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001770444 RCV000527776 RCV001020078 RCV000569864 CA276746154 RCV000701092 RCV002509519 RCV001584294 rs1053311636 CA394286664 |
1120 | V>L | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001243438 rs2089878502 |
1121 | S>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394286670 rs1596386254 RCV001020093 |
1121 | S>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA019006 rs397514938 RCV000055121 RCV000969711 RCV000604817 RCV000567237 |
1122 | R>C | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001770445 RCV001020102 RCV000548172 rs369536711 RCV001551674 CA046129 |
1122 | R>H | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA276746167 RCV000523797 RCV000528710 RCV001020103 rs369536711 |
1122 | R>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000465409 rs1060500968 RCV002451089 CA16614770 |
1123 | G>E | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs137854013 RCV000042513 RCV000055563 |
1125 | R>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs796053475 RCV000542085 CA319371 RCV001705069 RCV001020126 |
1125 | R>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs747420910 RCV001020120 RCV001772112 CA046293 RCV000816039 |
1125 | R>W | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1387479871 RCV000824443 |
1126 | D>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515125 RCV000055386 |
1126 | D>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000465863 rs397514945 RCV000055129 RCV001697040 CA019052 RCV001020133 |
1126 | D>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003222074 RCV000644263 rs746197874 CA046441 RCV000765272 RCV001020148 |
1127 | R>Q | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001020136 rs373939435 CA046408 RCV001618706 RCV000456897 |
1127 | R>W | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs137853996 RCV000042514 |
1128 | V>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1417366523 CA394286735 RCV001298392 |
1128 | V>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002451088 CA16615117 RCV000458982 rs1028039505 |
1129 | R>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA394286758 RCV001565707 RCV000644221 rs1412967226 |
1129 | R>H | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000794325 CA046451 rs770048768 RCV002458416 |
1130 | S>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001067993 rs1163066622 CA394286788 |
1130 | S>C | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000042802 rs137854161 |
1131 | M>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001314305 rs1297504532 CA394286812 |
1131 | M>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP ClinGen gnomAD |
|
CA046476 RCV000809238 RCV001020182 rs763122999 RCV002478879 |
1131 | M>T | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000509526 CA16614772 RCV000473877 RCV001584141 RCV001020177 rs775639244 |
1131 | M>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome TSC2-Related Disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000043094 rs137854074 RCV000414024 CA019071 |
1132 | S>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002056709 RCV000462249 CA046484 rs137854074 RCV000569265 |
1132 | S>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394288334 RCV000644126 rs1208166840 |
1133 | G>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000644239 CA394286837 rs1555511031 |
1133 | G>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs766223343 RCV001322855 |
1134 | G>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs766223343 CA046733 RCV000694273 RCV001020211 |
1134 | G>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394288377 RCV000644059 RCV003162908 rs1309968292 COSM1708629 COSM1708630 |
1135 | H>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs2089953185 RCV002460143 RCV001318766 |
1136 | G>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000201090 RCV000190075 RCV002483040 COSM1272079 rs45451497 CA019122 RCV000042516 RCV000491678 |
1138 | R>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Lymphangiomyomatosis Hereditary cancer-predisposing syndrome central_nervous_system Tuberous sclerosis syndrome [Ensembl, ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
CA394288453 RCV000531494 rs143168379 |
1138 | R>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000567063 CA394288450 RCV000806032 rs143168379 |
1138 | R>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs143168379 RCV002453443 CA019131 RCV001697047 RCV000122225 RCV000555458 |
1138 | R>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000055555 rs397515244 |
1139 | V>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001050811 rs2089954332 |
1139 | V>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000543971 rs759174655 CA046764 RCV002456156 |
1139 | V>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001068060 rs759174655 |
1139 | V>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001297844 rs2089954788 |
1140 | G>D | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491788 rs1114167467 |
1141 | A>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1376442 RCV000567355 COSM35462 RCV001703932 RCV000989430 rs45505895 RCV000042517 CA019136 RCV000189917 |
1141 | A>T | Tuberous sclerosis 2 large_intestine Hereditary cancer-predisposing syndrome central_nervous_system Tuberous sclerosis syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001080616 RCV000224830 VAR_057014 COSM87827 RCV000130495 RCV000122222 RCV000042811 CA019139 rs34870424 |
1141 | A>V | Tuberous sclerosis 2 pancreas Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000190077 CA319595 rs796053513 RCV002453704 RCV000644198 |
1142 | L>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001299793 rs1060504111 RCV003166686 |
1142 | L>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854313 RCV000042812 |
1143 | D>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs796053495 RCV001721236 CA319512 RCV001020274 RCV000468447 |
1143 | D>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA019160 RCV000042518 RCV001057920 rs45517294 RCV001020293 |
1144 | V>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA019154 RCV000122226 RCV000163263 RCV000055184 RCV000034650 RCV000989431 VAR_008027 rs45517294 |
1144 | V>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome TSC2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs2089956522 RCV001240065 |
1145 | P>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001703963 RCV000566604 RCV000055441 CA019165 rs397515162 RCV000472689 |
1145 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000700207 rs779149155 CA046875 |
1147 | S>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs779149155 RCV001037946 |
1147 | S>Y | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000644112 RCV000055289 RCV000478926 CA019175 rs45477491 RCV000043353 |
1148 | Q>* | Tuberous sclerosis 2 Lymphangiomyomatosis Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394288695 rs45477491 RCV001318599 |
1148 | Q>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002317987 rs1217539900 CA394288700 RCV001237675 |
1148 | Q>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1265832990 RCV000574125 CA394288751 RCV000824603 CA394288756 |
1149 | F>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen TOPMed gnomAD ClinVar dbSNP |
|
rs1060504121 RCV001296598 |
1150 | L>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA019181 rs137854022 RCV000043354 |
1151 | G>S | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042822 rs137854078 |
1152 | S>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2089960768 RCV001350807 |
1152 | S>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001218374 CA394288824 rs1352230225 RCV001751412 |
1153 | A>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1266509754 RCV001322024 |
1154 | T>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs377137483 CA394288846 RCV000796341 |
1154 | T>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs1266509754 RCV001348815 |
1154 | T>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000460886 CA16614775 RCV002460077 rs1060500948 |
1155 | S>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002285386 RCV000644147 CA046958 RCV002460101 rs144126969 |
1156 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000803450 CA394288926 RCV002336624 rs1477039147 |
1157 | G>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA394288909 RCV001853808 rs1555511390 RCV000575190 |
1157 | G>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000814951 CA276746687 RCV002453850 rs992338076 |
1158 | P>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs759350468 RCV000644210 CA394288939 RCV003162915 |
1158 | P>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs759350468 RCV000797464 CA394288934 |
1158 | P>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000043355 rs45473098 RCV000477075 RCV000568240 CA019201 |
1159 | R>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs45473098 RCV000565521 RCV001086436 RCV000177445 CA019197 RCV000043020 RCV000724630 |
1159 | R>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000122223 CA019192 RCV000043019 RCV002496680 RCV000233956 rs45517295 RCV000163429 |
1159 | R>W | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs754177014 RCV001215657 RCV001020407 CA394289005 |
1161 | A>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000644377 RCV000055075 CA019204 RCV002453368 rs397514901 |
1161 | A>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs895935495 RCV000686280 CA276746712 |
1162 | P>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs778069675 RCV001020414 CA047132 RCV000520176 RCV001085805 |
1162 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs895935495 RCV001020411 RCV001560998 RCV000470235 CA16614779 |
1162 | P>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1596390123 CA394289059 RCV000821620 |
1163 | A>D | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596390123 RCV001213136 |
1163 | A>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA047139 RCV001020422 rs560522093 RCV000685058 RCV001117666 |
1163 | A>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001212688 rs1596390123 |
1163 | A>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs776579875 CA047172 RCV001020430 RCV000951522 |
1164 | A>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002458209 CA276746727 rs776579875 RCV000687915 |
1164 | A>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000043356 RCV001727553 CA019211 RCV000567364 RCV001699111 RCV000228930 rs45448801 |
1164 | A>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs375444767 RCV001020436 RCV001229307 CA047198 |
1165 | K>E | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000550308 rs1555511443 CA394289117 |
1165 | K>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000055279 rs397515052 |
1166 | P>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002456502 RCV001346347 CA047205 rs762650392 |
1166 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000042519 rs137854340 |
1167 | E>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000802274 CA394289238 rs773900333 |
1169 | A>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001759705 rs773900333 RCV001020474 CA047242 RCV001035302 |
1169 | A>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000042838 CA019234 CA019240 rs45517296 RCV000042839 |
1170 | S>* | Variant assessed as Somatic; impact. Tuberous sclerosis syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA394289260 RCV003162914 RCV000644185 rs45517296 |
1170 | S>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567504268 RCV000694710 CA394289295 |
1172 | G>D | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001208282 rs2089969949 RCV001263300 |
1173 | T>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001243764 rs766827673 |
1173 | T>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042520 rs137854326 RCV001852878 |
1174 | R>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA276746792 RCV000802151 rs368666554 |
1174 | R>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001722537 rs368666554 RCV000573474 RCV000644372 CA047301 |
1174 | R>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs529298825 RCV000841759 CA047295 RCV001020514 RCV001082094 |
1174 | R>W | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000561697 CA047314 rs753110463 RCV000810847 |
1176 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
CA394289363 rs1326077397 RCV000534200 RCV002258956 RCV001574195 |
1176 | P>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000690319 rs1567504468 RCV002458225 CA394289391 |
1177 | V>E | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567504468 RCV001206462 |
1177 | V>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs45517297 RCV000042522 CA019253 RCV000694582 RCV000481829 |
1178 | Q>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001020544 rs45517297 RCV000190020 CA319515 RCV000551233 |
1178 | Q>E | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000043028 rs45483391 CA019260 |
1179 | E>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA019256 RCV001083093 RCV000430228 RCV000163457 rs45483391 |
1179 | E>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1060500937 RCV000459641 RCV002451087 |
1179 | E>missing | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000700174 RCV001592895 CA047382 rs751708490 RCV001020551 |
1180 | K>E | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394289462 RCV000565203 rs1555511520 |
1180 | K>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs373481458 RCV001292806 |
1181 | T>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA019264 COSM556938 RCV000820253 rs373481458 COSM556937 RCV000122224 RCV001020564 |
1181 | T>M | lung Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [Cosmic, Ensembl, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs373481458 CA394289471 RCV001208270 |
1181 | T>R | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2089974047 RCV001337559 |
1182 | N>D | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001223510 rs2089974168 |
1182 | N>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002339132 CA16615137 RCV000463034 rs1060500939 |
1184 | A>E | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA394289510 RCV000764028 RCV000567911 RCV002225656 RCV000527232 rs1060500939 |
1184 | A>V | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA16607153 rs1057521812 RCV001020594 RCV000435796 RCV001797719 |
1185 | A>V | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000685397 rs1202939879 CA394289542 |
1186 | Y>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA019269 rs137854421 RCV002496681 RCV000571253 RCV001579731 RCV000470918 RCV001727550 RCV000043029 |
1186 | Y>C | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000821140 CA047470 rs137854421 |
1186 | Y>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000043030 rs137854163 |
1187 | V>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000371013 rs137854121 RCV000043375 |
1189 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000469044 RCV001721231 RCV001020619 CA319374 rs796053476 |
1189 | L>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs137854014 RCV000043377 |
1192 | Q>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001852903 rs45517298 RCV000043376 CA019287 |
1192 | Q>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA276746899 RCV000795502 RCV002458428 rs755559677 |
1192 | Q>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042783 rs137854262 |
1193 | G>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001214434 rs2089978360 |
1193 | G>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515168 RCV000055451 CA019307 |
1194 | W>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001020661 rs773951533 CA394289659 |
1195 | A>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001313381 rs2089978833 |
1195 | A>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs773951533 RCV000461845 RCV001662421 CA047499 RCV000570432 |
1195 | A>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394289668 RCV000644093 rs1555511585 |
1196 | E>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001228920 rs2089979590 RCV002339626 |
1197 | I>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002451168 rs2089979590 RCV001043463 |
1197 | I>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001214927 rs1596390891 |
1199 | V>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA019312 rs397515088 RCV001069686 RCV000055331 |
1199 | V>G | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000809336 RCV002453825 CA394289695 rs1596390891 |
1199 | V>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000055532 CA019318 rs397515225 |
1200 | R>P | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002258893 RCV000421784 CA16606944 rs397515225 RCV000706223 |
1200 | R>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_005656 RCV002453340 RCV000043035 RCV000190021 RCV000190880 rs45438205 CA019313 RCV002490595 |
1200 | R>W | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Tuberous sclerosis syndrome TSC2 [Ensembl, ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
RCV000809661 CA394289723 rs1596390955 |
1201 | R>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397515060 CA019323 RCV000055291 |
1202 | P>H | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA019327 RCV000055371 rs397515060 |
1202 | P>R | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA019338 RCV000055252 rs397515030 |
1203 | T>K | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000055578 rs397515265 CA019333 RCV001854156 |
1203 | T>P | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001214173 rs397515030 |
1203 | T>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001215705 rs45462194 |
1204 | G>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA019384 RCV000043416 RCV000201026 rs45462194 RCV000414012 |
1204 | G>E | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042787 rs1555511663 CA019365 RCV000660346 |
1204 | G>R | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000803826 rs924403519 CA394291418 |
1205 | N>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002456503 rs2090150662 RCV001346399 |
1206 | T>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001250500 RCV000055138 rs397514952 |
1207 | S>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055356 rs397515313 CA019399 |
1207 | S>I | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs397514907 RCV000055081 |
1208 | W>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000460919 rs397514979 CA019419 RCV000055176 |
1208 | W>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA319518 RCV000190022 rs796053496 RCV002517023 |
1208 | W>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs45482795 RCV001069687 RCV000254034 CA019409 RCV000042789 |
1208 | W>G | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs45482795 RCV000996158 CA019404 RCV000042788 |
1208 | W>R | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001306298 rs1358537146 |
1212 | L>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515010 RCV000055225 |
1213 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000644234 CA394291819 rs1555512322 |
1213 | E>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000043418 rs137854224 |
1215 | P>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000530877 rs1555512332 CA394291882 |
1215 | P>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs933257311 RCV002343303 CA276749978 RCV000644090 |
1215 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA394291883 rs1555512332 RCV000824625 |
1215 | P>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042527 rs137854389 |
1218 | P>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055078 rs397514904 |
1218 | P>H | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2090155420 RCV001299572 |
1220 | S>C | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1609073 CA019446 RCV000543360 rs45517305 RCV000042528 COSM1609072 |
1221 | S>* | Tuberous sclerosis 2 liver Tuberous sclerosis syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
CA394292082 RCV001213568 COSM968435 rs45517305 COSM968436 |
1221 | S>L | Tuberous sclerosis 2 endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
RCV002453339 RCV000042794 rs137854393 |
1222 | D>missing | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854223 RCV000989432 RCV000042795 |
1224 | N>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1037743572 RCV002456423 RCV001317253 CA276750042 |
1225 | N>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2090157003 RCV001046556 RCV002451185 |
1226 | M>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs769283410 CA048041 RCV000473267 |
1226 | M>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_005657 | 1227 | P>L | TSC2 [UniProt] | Yes | UniProt |
|
RCV000573539 rs1555512392 RCV000644066 CA394292308 |
1227 | P>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000812206 rs1596400038 |
1228 | L>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043280 rs137854129 |
1229 | Q>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs45517306 CA019470 RCV000760363 RCV001036695 RCV000042529 |
1229 | Q>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060500962 RCV000475309 CA16614724 RCV002348295 |
1229 | Q>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1055582947 RCV001344698 |
1231 | L>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854316 RCV000043077 |
1232 | S>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000489018 rs137853993 RCV000043281 RCV002496682 RCV001194684 |
1232 | S>missing | Tuberous sclerosis 2 Lymphangiomyomatosis Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10588935 rs886039876 RCV000256373 |
1232 | S>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2090159838 RCV001246448 |
1233 | N>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000201083 RCV001195892 RCV003221794 RCV000042799 rs137854210 |
1233 | N>* | Tuberous sclerosis 2 Lymphangiomyomatosis Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394292542 rs1412376534 RCV000566568 |
1233 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs397515193 RCV000055487 |
1234 | A>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001725211 rs2090160412 RCV001066762 |
1234 | A>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854303 RCV002513624 RCV000042800 CA019495 |
1235 | L>F | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs137854325 RCV000043282 |
1236 | M>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000692667 rs1567510644 CA394292645 RCV002343466 |
1236 | M>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs753907159 CA048133 RCV000964609 RCV001020951 RCV001703809 |
1237 | A>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000055440 rs397515161 |
1238 | A>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA019506 RCV000043283 RCV000537246 RCV003162359 rs137854353 |
1240 | R>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001068717 CA394292758 rs1567510707 RCV002348474 |
1240 | R>H | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1567510707 RCV001349043 |
1240 | R>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_005658 | 1240 | R>W | TSC2 [UniProt] | Yes | UniProt |
|
RCV001326249 rs2090162360 |
1241 | F>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001326479 rs45486193 |
1241 | F>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002348488 RCV001071626 rs1567510728 |
1242 | K>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001069582 RCV002348478 rs993614997 |
1244 | H>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002480363 RCV003114581 rs993614997 RCV000459726 RCV001020994 CA16615000 |
1244 | H>Y | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001299677 rs746588726 |
1245 | R>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA048210 RCV001227098 rs746588726 RCV003117855 RCV002348765 |
1245 | R>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs777489742 CA048198 RCV000470026 RCV000356278 RCV001020999 |
1245 | R>W | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002514076 RCV000190085 rs796053516 |
1246 | D>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000821782 rs1596400382 CA394292957 |
1246 | D>H | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000460265 rs369961807 RCV002365619 CA048226 |
1247 | T>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000644200 CA394293028 rs745342041 |
1248 | A>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
TCGA novel RCV001070653 rs1596400436 |
1249 | L>M | Tuberous sclerosis 2 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs397514906 RCV000055081 |
1250 | Y>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000644219 rs1555512486 RCV000517826 |
1250 | Y>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000810322 rs45517308 RCV000042809 RCV002266913 RCV000042810 CA019521 CA019518 |
1250 | Y>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000799525 CA394293088 rs1596400479 |
1250 | Y>C | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001305869 rs2090165820 |
1251 | K>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394293139 rs1567511020 CA394293132 RCV000698572 |
1251 | K>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen Ensembl ClinVar dbSNP |
|
rs45517309 RCV000042531 CA019524 |
1252 | S>* | Lymphangiomyomatosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000538186 rs1555512497 |
1254 | S>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394293214 RCV000793813 rs1596400563 |
1254 | S>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001319535 rs1596400563 |
1254 | S>W | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854194 RCV000042532 |
1255 | V>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596400585 RCV001021081 CA394293224 |
1255 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002363082 RCV000808252 RCV002279962 rs1596400594 CA394293268 |
1256 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854180 RCV000042533 |
1257 | A>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000034651 RCV000163870 RCV000189919 RCV001082168 rs45466493 RCV000054860 CA019537 |
1257 | A>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1060500958 CA16615006 RCV000470947 |
1258 | A>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001206218 rs2090168528 |
1258 | A>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000490848 RCV002523430 rs1114167459 |
1259 | S>missing | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000805072 rs1596400661 CA394293355 |
1259 | S>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001037138 CA394293377 rs1310948800 RCV001119240 |
1260 | T>A | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA048383 RCV001080300 RCV002257673 rs776738338 RCV000435216 |
1260 | T>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2090169575 RCV001036657 |
1261 | A>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001531842 CA019543 rs45517310 RCV000042827 |
1261 | A>D | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2090170043 RCV001216180 |
1261 | A>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002350296 RCV000526703 CA048406 rs765255206 |
1262 | K>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001040318 rs2090170656 |
1263 | P>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001088069 RCV000422551 RCV002256234 CA16607157 rs1057523452 |
1263 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002343657 rs1233661099 RCV000794216 RCV002487657 CA394293465 |
1263 | P>S | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000042828 RCV000702623 RCV000493012 rs137854001 |
1264 | P>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001318284 rs2090171531 |
1264 | P>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs45517311 RCV000539148 RCV001650884 RCV000043288 CA019552 RCV000565068 |
1265 | P>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs876658759 RCV000220849 RCV001853522 |
1265 | P>missing | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000802435 RCV000190062 rs796053505 |
1267 | P>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs757010959 RCV000521160 CA048474 RCV000644179 |
1267 | P>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002266988 CA276750224 rs1020561347 RCV002491143 RCV000571806 RCV000706819 |
1268 | R>C | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000231146 RCV001711223 RCV000566058 CA019556 RCV000055239 rs200577441 |
1268 | R>H | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001222986 rs200577441 |
1268 | R>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs991523072 RCV001213094 CA276750234 |
1269 | S>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1304251276 RCV002358832 RCV000644144 CA394293642 |
1270 | N>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1567511623 RCV000687475 CA394293662 |
1271 | T>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003169012 rs1319528505 RCV000820777 CA394294769 |
1272 | V>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2090175224 RCV001295036 |
1272 | V>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003117698 CA394294776 RCV001226599 RCV001021222 rs1596404280 |
1273 | A>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs749367382 RCV000469602 RCV000567292 CA048770 RCV000441786 RCV001354866 |
1273 | A>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000484341 rs1555512845 RCV001851235 |
1274 | S>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA276750867 rs534533805 RCV001232655 |
1274 | S>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV001327688 rs1185513978 |
1275 | F>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA048795 RCV003163091 RCV000684973 rs761713908 |
1275 | F>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2090258908 RCV001314751 RCV002357130 |
1275 | F>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA019588 rs45478595 RCV000571393 RCV001083121 RCV000189920 RCV000034652 RCV000054868 |
1276 | S>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2090259818 RCV001203171 |
1277 | S>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1330915229 RCV001059042 CA394294865 |
1277 | S>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000644118 CA394294893 rs1555512861 |
1279 | Y>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001046033 RCV001021252 CA394294880 rs1449727037 |
1279 | Y>H | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060500941 CA16615015 RCV000473767 |
1280 | Q>H | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001021255 RCV001861013 CA394294916 rs1596404506 |
1280 | Q>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000707399 CA394294933 rs1358527360 |
1281 | S>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs45446700 RCV000042534 VAR_009444 CA019592 |
1282 | S>G | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1596404603 RCV000798073 CA394294942 |
1282 | S>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587778732 RCV000220057 RCV000533110 RCV000726598 RCV000122216 RCV000760992 |
1282 | S>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001591113 rs997331401 RCV000463274 |
1282 | S>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001399632 RCV002354643 rs753308966 CA048901 RCV001121241 |
1284 | Q>* | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA276750917 rs944693159 RCV002358833 RCV000644199 RCV002493023 |
1284 | Q>R | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2090265081 RCV001235268 |
1285 | G>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001065096 rs2090264891 RCV002255617 |
1285 | G>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000704941 CA394295090 RCV002352207 rs1567514069 |
1288 | H>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA276750925 RCV002360758 rs900604900 RCV000693875 |
1289 | R>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002352152 rs1567514084 RCV000694367 |
1289 | R>missing | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2090265922 RCV002355063 RCV001060616 |
1289 | R>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM48828 CA394295153 CA394295157 RCV001021319 rs1008733639 RCV001047548 RCV000795714 |
1289 | R>S | Hereditary cancer-predisposing syndrome lung Tuberous sclerosis 2 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV002480364 CA16614785 rs754466663 RCV000461472 RCV003168765 |
1290 | S>R | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394295215 RCV000687145 rs201135184 |
1291 | V>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA019604 rs201135184 RCV000164851 RCV001703956 RCV000055045 RCV000475134 |
1291 | V>I | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000805437 rs796053497 CA319519 RCV002354536 |
1292 | S>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs796053497 RCV002491058 RCV003105952 RCV000558015 RCV001021336 CA394295239 |
1292 | S>F | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001858828 rs1166042912 CA394295227 RCV002354904 |
1292 | S>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001062479 rs2090268487 |
1293 | W>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555512887 RCV001472838 |
1295 | D>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001345282 rs2090416468 |
1295 | D>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_005659 | 1295 | D>V | TSC2 [UniProt] | Yes | UniProt |
|
RCV001772064 CA276752697 RCV003166194 rs1027773484 RCV000800703 |
1296 | S>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000694427 rs1027773484 CA394296699 |
1296 | S>Y | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs45517319 RCV000129666 RCV000122229 RCV000231518 RCV000054864 RCV000034653 CA019668 |
1297 | A>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs371239156 RCV001531843 RCV000546530 RCV002358537 RCV001121242 CA276752704 |
1297 | A>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000700001 rs758677443 RCV002360791 CA049528 |
1298 | V>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000563673 CA049517 RCV000534965 rs147284943 RCV001703595 |
1298 | V>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1596411903 CA394296837 RCV001021400 |
1300 | M>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001223462 rs1349341137 RCV002366007 CA394296834 |
1300 | M>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000547432 RCV002483446 CA394296835 rs1349341137 RCV002367881 |
1300 | M>T | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001021380 rs1596411880 CA394296832 RCV002551838 |
1300 | M>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000698586 CA394296864 rs1429956058 |
1301 | E>D | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001349600 rs2090419072 |
1301 | E>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394297015 RCV000695370 rs1305173000 |
1304 | S>C | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001209153 rs751564566 CA049568 |
1304 | S>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000054866 RCV000034654 RCV000130814 RCV000118705 CA019686 RCV000234232 rs45517320 |
1305 | P>L | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs45517320 CA049590 RCV000809463 |
1305 | P>R | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000042777 CA019681 rs45452994 |
1305 | P>S | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA394297109 RCV001225628 rs1567518028 RCV002375219 |
1306 | G>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000325835 RCV000726912 rs62642481 RCV001079391 CA049623 RCV000567501 |
1307 | E>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000043299 rs137854142 |
1309 | P>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002372358 rs1049538280 RCV000823286 CA394297178 |
1309 | P>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001049677 CA276752763 rs1046522975 RCV001021456 |
1310 | V>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2090422516 RCV001350835 |
1311 | L>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001042493 CA276752786 RCV001300573 rs201584397 |
1312 | V>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP ClinGen 1000Genomes gnomAD |
|
CA394297276 RCV000815948 rs201584397 RCV002372303 |
1312 | V>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP gnomAD |
|
RCV001036030 rs2090423688 |
1313 | E>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515212 RCV000055512 |
1313 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs45517321 CA019705 RCV000042780 |
1313 | E>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001021475 RCV000535896 CA049654 RCV001705074 rs149340262 |
1313 | E>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001055430 rs1217156011 RCV003160446 CA394297318 |
1314 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002352113 RCV000686237 rs771499212 CA049677 |
1314 | P>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs137854011 RCV000042781 |
1315 | P>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397514916 CA019717 RCV000055093 RCV001341288 |
1315 | P>A | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000707551 RCV002352224 rs775990159 CA049710 |
1315 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs397514916 RCV002371894 VAR_008028 RCV001853088 RCV000055150 CA019722 |
1315 | P>S | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome TSC2 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs397514916 RCV001021484 CA394297324 |
1315 | P>T | Tuberous sclerosis 2 (tsc2) Hereditary cancer-predisposing syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555513513 CA394297385 RCV000548255 |
1316 | G>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555513510 CA394297375 RCV000644261 |
1316 | G>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2090425460 RCV002354998 RCV001040712 |
1317 | L>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515260 RCV000055572 |
1318 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394297414 rs1064793797 RCV000528798 |
1318 | E>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs45517322 RCV001326761 |
1319 | D>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001021517 RCV000475183 CA049735 rs375883030 RCV001088738 |
1319 | D>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs45517322 RCV000541237 RCV000042782 RCV000764029 RCV001021518 CA019742 |
1319 | D>V | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000644391 RCV003153748 rs767495365 CA049761 RCV000573012 RCV001722536 |
1320 | V>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000055084 CA019753 rs397514910 |
1321 | E>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001021539 RCV000122230 rs587778737 CA019763 RCV000644130 |
1321 | E>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587778736 RCV001321741 |
1321 | E>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA019757 RCV001556535 RCV000122228 rs587778736 RCV000644076 |
1321 | E>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs759790981 CA276752843 RCV000688874 |
1322 | A>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000644248 CA394297498 rs1380402492 |
1322 | A>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000797830 rs397515062 CA394297516 |
1323 | A>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000055293 RCV003153341 rs397515062 RCV000163902 CA019767 RCV000476957 RCV000189923 |
1323 | A>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10583326 RCV000231594 rs878854098 |
1324 | L>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001233327 rs878854098 |
1324 | L>Q | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA276752864 RCV001021554 rs549060036 |
1324 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV000516748 RCV001857933 rs754680848 CA049827 |
1325 | G>D | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs754680848 RCV001053554 |
1325 | G>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2090429801 RCV002374909 RCV002481965 RCV001051800 |
1326 | M>T | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876659087 CA10579897 RCV000644390 RCV000216974 |
1327 | D>E | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1555513553 RCV001231583 RCV000567243 CA394297603 |
1327 | D>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854255 RCV000043301 |
1328 | R>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA276752889 RCV002357166 rs112885324 RCV001327756 |
1328 | R>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA049839 RCV000644155 RCV001021583 rs747695245 |
1329 | R>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000462108 RCV000163277 RCV003153325 RCV000118707 RCV000054856 rs45517323 CA019777 VAR_008029 RCV000034655 |
1329 | R>H | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Ovarian cancer [Ensembl, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555513561 RCV000549187 CA394297702 |
1330 | T>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000458400 rs397515209 RCV001703964 RCV000055604 RCV000190025 RCV000571810 CA019782 RCV000055507 |
1330 | T>M | Tuberous sclerosis 2 Variant assessed as Somatic; 9.705e-05 impact. Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Autism spectrum disorder [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001058051 rs397515209 |
1330 | T>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055287 rs397515058 |
1331 | D>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001021602 rs776049462 CA049880 RCV000460658 RCV000607342 |
1331 | D>E | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2090433367 TCGA novel RCV001224556 |
1331 | D>G | Tuberous sclerosis 2 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs770396146 RCV000807415 CA394297728 RCV001766687 |
1331 | D>H | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs397515232 RCV000055543 |
1332 | A>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394297756 RCV002298638 RCV000523177 rs1555513574 |
1332 | A>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000043042 rs137854403 |
1333 | Y>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs775604492 RCV000697993 CA394297796 |
1333 | Y>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs878854099 CA10583328 RCV000233410 |
1333 | Y>C | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs901222751 RCV001225814 RCV002375220 CA276752911 |
1333 | Y>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA16615016 rs1060500964 RCV002323695 RCV000473934 |
1334 | S>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA394297852 rs1060500911 RCV000822572 |
1334 | S>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002377444 rs2090436302 RCV001340241 |
1335 | R>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394297869 RCV000542179 rs1403658994 |
1335 | R>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000122231 RCV000490949 RCV000350281 rs148527903 RCV000227253 RCV000858996 CA019831 |
1336 | S>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs148527903 CA394299127 RCV001207908 RCV002375148 |
1336 | S>W | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001034267 RCV002372380 rs200411484 CA050168 RCV000840982 |
1337 | S>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000686851 rs200411484 CA394299139 |
1337 | S>Y | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000531608 rs753656246 CA050173 |
1340 | S>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2090480803 RCV001236240 |
1341 | S>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000457664 CA019836 RCV000042541 RCV001703933 VAR_022920 RCV002354223 rs45462593 |
1341 | S>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
rs397515003 RCV001387404 CA019843 RCV000055216 |
1342 | Q>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000464141 CA16615150 rs1060500951 |
1342 | Q>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA050218 RCV002372158 RCV001053943 RCV000189924 rs752502287 TCGA novel |
1343 | E>D | Variant assessed as Somatic; impact. Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001307522 rs2090481775 |
1343 | E>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515035 RCV001194685 CA019846 RCV000055259 |
1344 | E>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002491716 RCV002356962 RCV001226591 rs2090482288 |
1344 | E>G | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001087396 RCV002257482 CA050233 rs397515035 RCV000713931 |
1344 | E>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000481647 RCV001021713 rs878854100 RCV000768123 RCV000230228 |
1344 | E>missing | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043310 rs137854341 |
1345 | K>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000551967 CA394299263 rs1302353294 |
1345 | K>M | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000801908 CA394299270 RCV001021726 CA394299269 rs1335576471 |
1345 | K>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen gnomAD ClinVar dbSNP |
|
rs1596415359 RCV000810750 |
1345 | K>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs45517326 RCV000043063 CA019864 |
1346 | S>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000685152 RCV000561137 rs45517326 CA050248 |
1346 | S>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001204182 rs377050648 |
1347 | L>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000644212 rs1221929408 CA394299288 RCV002325262 |
1347 | L>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001281690 CA050266 rs377050648 |
1347 | L>V | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs201979616 RCV003166179 CA276753212 RCV000799482 |
1349 | A>E | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000233087 RCV000569969 RCV001721237 CA050290 rs146239734 |
1349 | A>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA019876 RCV000215282 rs201979616 RCV001081977 RCV000034656 RCV000761016 |
1349 | A>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1378842608 RCV002322074 CA394299324 RCV001221723 |
1350 | E>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs878854101 RCV001069106 |
1351 | E>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003165606 CA10583329 RCV000230897 rs878854101 |
1351 | E>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2090485397 RCV001314990 |
1352 | L>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002325533 RCV000799823 rs373982157 CA276753221 |
1353 | V>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000563553 CA050315 rs373982157 RCV000983892 |
1353 | V>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000055391 rs397515129 |
1354 | G>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10583330 RCV002321859 rs878854102 RCV000233771 |
1354 | G>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000764030 RCV001584296 rs1555513911 RCV000544952 CA394299372 |
1355 | R>G | Tuberous sclerosis 2 Lymphangiomyomatosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854330 RCV000043313 |
1356 | G>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000644243 RCV000190029 CA050325 rs747104864 RCV001021792 |
1356 | G>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394299390 COSM248032 COSM248031 RCV001021794 RCV000702009 rs747104864 RCV000497895 |
1356 | G>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002260653 rs1555513920 CA394299395 RCV002325264 RCV000644244 |
1357 | I>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10583331 RCV003165607 RCV000227467 rs878854103 |
1357 | I>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002258957 RCV000557479 rs878854103 CA394299398 |
1357 | I>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002321860 RCV000399172 RCV000230305 RCV002243904 rs878854104 CA10583332 |
1358 | P>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397515130 CA019896 RCV000055392 |
1358 | P>L | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs150999168 RCV001211884 |
1359 | I>M | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002513717 rs397514997 RCV000055207 CA019910 |
1360 | E>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs397514997 RCV000644152 RCV003162911 CA050377 |
1360 | E>K | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000793354 CA394299426 rs397514997 |
1360 | E>Q | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000692170 CA394299441 rs560831385 |
1361 | R>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001021831 RCV002551843 rs762798984 CA394299444 |
1361 | R>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
COSM236250 RCV001021830 COSM236251 rs762798984 CA050385 RCV000700374 |
1361 | R>Q | Tuberous sclerosis 2 autonomic_ganglia Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs137853978 RCV000043006 |
1362 | V>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055132 CA019924 rs397514947 |
1362 | V>D | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2090489392 RCV001343322 |
1362 | V>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003120570 rs751203255 RCV001343055 |
1363 | V>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000713932 CA050403 RCV002257693 rs751203255 RCV001086293 |
1363 | V>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs397515201 RCV000055495 |
1364 | S>missing | Lymphangiomyomatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001053848 CA394299461 RCV002320295 rs756957699 |
1364 | S>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16614741 RCV002323693 RCV000463415 rs1060500956 |
1364 | S>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA050423 RCV001082119 RCV001770137 RCV000471216 rs377123510 RCV000567838 |
1365 | S>L | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001574252 rs755101865 RCV000704621 RCV002256487 |
1365 | S>missing | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055388 rs397515126 |
1366 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs45517327 RCV000042815 RCV000201169 RCV000760364 CA019945 |
1366 | E>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs755461310 RCV000473048 CA050437 RCV000296255 RCV000219391 |
1366 | E>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA394299479 RCV000813196 rs1460776110 |
1367 | G>D | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA394299488 RCV001301002 rs1596415974 RCV001021876 |
1368 | G>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001308641 rs1596415966 |
1368 | G>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002319920 CA394299483 RCV000822829 rs1596415966 |
1368 | G>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000687134 rs1567521369 |
1369 | R>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA019956 rs587778738 RCV000644340 RCV000564577 RCV000122232 |
1369 | R>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs45517328 RCV000565844 RCV000042816 CA019949 RCV001082851 RCV000726579 |
1369 | R>W | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA050484 RCV001513534 RCV000601610 rs747293303 |
1370 | P>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2090492186 RCV001225123 |
1371 | S>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060500929 RCV000468654 CA16615151 |
1371 | S>C | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854368 RCV000042543 RCV001852880 RCV000201043 |
1372 | V>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1300203299 RCV000817763 CA394299531 RCV001021899 |
1372 | V>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2090494113 RCV002322047 RCV001216025 |
1372 | V>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001235086 rs2090494735 |
1373 | D>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596416094 RCV001036912 |
1373 | D>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002513617 rs137854289 RCV000042544 |
1375 | S>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394299569 rs145476528 RCV001021912 RCV001873351 |
1375 | S>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV002493221 CA276753293 rs145476528 RCV000700175 |
1375 | S>F | Tuberous sclerosis 2 Lymphangiomyomatosis [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV001390822 RCV000043066 rs45517329 CA019981 |
1377 | Q>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000459683 rs1060500921 RCV003168763 CA16614788 |
1378 | P>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002327537 rs1596416159 CA394299609 RCV001226405 |
1378 | P>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001042211 rs1060500921 |
1378 | P>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001212746 rs2090496214 |
1379 | S>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA019985 RCV000042756 rs137854065 |
1379 | S>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM3711967 RCV001083321 RCV000055582 CA019991 COSM3711968 RCV000731274 rs137854065 RCV000575789 |
1379 | S>L | upper_aerodigestive_tract Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA019994 RCV001062658 RCV000042757 rs137854045 |
1380 | Q>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001773684 CA394299622 RCV001342767 rs137854045 |
1380 | Q>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA394299641 rs397515264 RCV000700667 |
1381 | P>H | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA020000 RCV000055577 rs397515264 RCV000475654 RCV003162432 |
1381 | P>L | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000644062 rs1555514052 |
1381 | P>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2090497403 RCV001043621 |
1381 | P>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000822508 CA394299661 rs1596416285 |
1383 | S>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000535213 RCV002330896 CA394299699 rs1555514071 |
1386 | S>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001037734 rs1555514071 |
1386 | S>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000644140 rs1555514034 |
1387 | S>RSP* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397514976 RCV000055172 CA264455 RCV000989435 |
1388 | S>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen Ensembl ClinVar dbSNP |
|
RCV000055224 rs397515009 RCV000201100 |
1389 | P>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043325 rs137854043 |
1389 | P>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596416369 RCV000809281 CA394299739 |
1389 | P>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397515033 CA020028 RCV000055256 |
1390 | E>* | Variant assessed as Somatic; impact. Tuberous sclerosis syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000234433 rs397515033 RCV002327110 CA050575 |
1390 | E>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000043073 rs137854051 |
1392 | Q>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043074 rs137854270 |
1392 | Q>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000660347 RCV002287355 RCV000043072 RCV000760365 rs45517330 CA020033 |
1392 | Q>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394299781 RCV000644226 rs749930791 |
1392 | Q>H | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001340062 CA394299789 rs755583869 |
1393 | T>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000043327 rs137854363 RCV000201157 |
1394 | L>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397514935 RCV000055117 |
1395 | Q>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000267161 RCV001042530 rs886041772 RCV002288954 CA10603365 |
1395 | Q>* | Tuberous sclerosis 2 Variant assessed as Somatic; impact. Tuberous sclerosis 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001062100 rs2090503435 |
1397 | I>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596416534 CA394299833 RCV000808209 |
1397 | I>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060500928 CA16614748 RCV000459017 RCV000522580 RCV000561438 |
1398 | L>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs45466399 CA394299843 RCV000239251 RCV000043328 RCV000573452 RCV000122233 RCV003114225 CA020068 |
1399 | G>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
CA319383 rs762368225 RCV001852522 RCV000189928 |
1400 | D>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003128805 RCV002329033 RCV000465567 CA050641 rs778147657 |
1401 | P>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003160211 rs1596416623 RCV001036177 |
1401 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394299884 rs1596416623 RCV001050457 RCV001022046 |
1401 | P>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000822458 CA050649 RCV002332714 rs778147657 RCV001575055 |
1401 | P>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs137854273 RCV000055311 RCV000478366 RCV000042546 |
1403 | D>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1288307487 RCV001069476 |
1403 | D>Y | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001327519 rs2090506660 |
1404 | K>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2090507183 RCV001043744 |
1406 | D>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002318520 CA050657 RCV000469951 rs147719291 RCV001696845 RCV001543108 |
1406 | D>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA050670 RCV000593021 RCV001086896 rs147719291 RCV000572627 |
1406 | D>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1264774699 RCV000528241 |
1407 | V>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000644121 CA394300107 rs1555514182 |
1407 | V>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002326761 rs45517332 CA020086 RCV001852896 RCV000043078 |
1407 | V>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA050677 RCV000456699 RCV000571397 rs45517332 |
1407 | V>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000043079 rs137854427 RCV000298867 |
1408 | G>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000713933 CA050682 rs202068995 RCV001087398 RCV000491452 |
1408 | G>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000540815 CA276753368 RCV002330897 rs45517333 RCV001672838 |
1409 | R>G | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001721232 RCV000915945 rs768684515 RCV001022088 CA050701 |
1409 | R>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001082570 RCV000054871 RCV000606975 RCV000566784 RCV000034657 rs45517333 RCV000768352 CA020096 |
1409 | R>W | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000702874 RCV002332493 CA394300256 RCV002477621 rs1267811475 |
1411 | S>N | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1197792694 CA394300303 RCV001214169 |
1412 | P>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001022107 CA394300280 rs1480313663 RCV001052392 |
1412 | P>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000042547 rs137854296 |
1414 | V>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043347 rs137854243 |
1416 | A>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002327326 CA276753373 RCV001057820 rs1001211672 |
1416 | A>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2090510754 RCV001226008 |
1416 | A>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854055 RCV000042766 RCV000055041 |
1417 | R>missing | Lymphangiomyomatosis Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1343536158 RCV002330898 CA394300437 RCV000524756 |
1417 | R>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000644231 RCV002331191 CA050704 rs774338461 |
1417 | R>W | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000043088 rs137854137 |
1419 | Q>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000760367 RCV002326762 CA020121 RCV000043087 rs45437193 RCV001852897 |
1419 | Q>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Tuberous sclerosis syndrome [Ensembl, ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV002331188 RCV001771883 rs1403321543 RCV000644148 CA394300490 |
1419 | Q>H | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA050713 rs562443546 RCV000568648 RCV002476253 RCV000644236 RCV001558891 |
1419 | Q>R | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV003153331 rs137854132 RCV000989436 RCV000043349 |
1420 | S>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055585 rs397515271 |
1421 | G>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1368001965 RCV001198650 |
1421 | G>A | Lymphangiomyomatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394300579 rs1368001965 RCV001545128 RCV002332437 RCV000693007 |
1421 | G>E | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA050727 RCV000644129 rs760230300 |
1422 | T>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs397515069 RCV000055305 |
1423 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394300644 rs1567523138 RCV000695700 |
1423 | L>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000223087 RCV000644105 rs876659933 CA10579900 RCV002281069 |
1424 | D>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001215224 RCV002327500 RCV001760192 rs1216613310 |
1424 | D>H | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055479 rs1555514235 |
1425 | G>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394300730 RCV001532308 RCV000530101 CA050746 RCV002330899 RCV001022193 rs763497329 RCV000554219 |
1425 | G>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000043102 rs45449094 CA020176 |
1426 | E>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2090515740 RCV001228717 RCV003166391 |
1426 | E>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854113 RCV000043103 RCV001852898 |
1427 | S>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1248855623 CA394300822 RCV001038396 |
1427 | S>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs397515250 RCV000055562 CA020184 |
1427 | S>T | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs397515233 RCV000055544 |
1428 | A>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA050758 RCV001213793 rs764533757 RCV003163630 RCV001773477 |
1428 | A>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002504868 CA020193 rs45474795 RCV000122234 RCV000163285 RCV000468567 RCV001770052 VAR_018601 RCV000054858 RCV000055296 RCV000034658 |
1429 | A>S | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Autism spectrum disorder [Ensembl, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000575927 RCV000461781 CA050774 RCV000357832 RCV001548444 rs757579310 |
1429 | A>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2090516898 RCV001194686 |
1430 | W>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs45517334 CA020204 RCV002513618 RCV000042550 |
1430 | W>* | Tuberous sclerosis 2 Variant assessed as Somatic; impact. Tuberous sclerosis syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs45507198 CA020199 RCV000042549 |
1430 | W>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001214728 rs45517334 |
1430 | W>C | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001229063 CA394300970 RCV001022217 rs1596417336 |
1430 | W>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM968441 RCV002330900 CA050780 rs375785710 COSM968442 RCV000547245 |
1431 | S>L | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
RCV002332709 RCV000821765 rs375785710 CA394301025 RCV002478923 |
1431 | S>W | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs45517335 RCV001070626 CA020214 COSM1609074 COSM1609075 RCV000042776 |
1433 | S>* | Tuberous sclerosis 2 liver Tuberous sclerosis syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000569085 RCV000189930 rs45517335 RCV001719804 RCV000228931 RCV000055410 CA020219 |
1433 | S>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000644167 CA394301107 rs1555514295 |
1434 | G>C | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1441136255 RCV001211770 |
1435 | E>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001022253 CA394301158 RCV000696535 rs1441136255 |
1435 | E>K | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000055140 RCV002515742 rs137854415 |
1437 | S>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs45448791 COSM968445 RCV000543604 COSM968444 RCV001022275 CA020250 RCV000043391 |
1438 | R>Q | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome endometrium Tuberous sclerosis syndrome [Ensembl, ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001022278 rs1596417514 |
1438 | R>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000190079 CA050835 rs778925833 RCV000695662 RCV001022271 |
1438 | R>W | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs137853988 RCV000485831 RCV000055494 RCV001853096 |
1439 | G>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000223969 RCV000122235 CA020266 RCV000163417 rs150397923 RCV000226742 RCV000055339 |
1439 | G>D | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs137853988 RCV000043036 |
1440 | Q>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA020269 RCV000042784 RCV000521569 rs45517337 RCV000201035 |
1440 | Q>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001244146 rs2090520912 |
1441 | P>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002328977 RCV000441035 rs201710642 RCV001119330 RCV001086097 CA16607171 |
1441 | P>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs137854327 RCV000042785 |
1442 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515188 RCV000055481 |
1442 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs45469392 RCV000491994 CA394301349 |
1442 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001022298 rs45469392 RCV000536583 CA020286 RCV000043392 |
1442 | E>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002330901 RCV000544382 CA394301360 rs1204349917 |
1442 | E>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1459518095 CA394301394 RCV000706031 RCV000574628 |
1444 | P>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs550084361 RCV003163113 CA276753419 RCV000687287 |
1444 | P>L | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP gnomAD |
|
RCV001070860 CA394301401 rs1459518095 |
1444 | P>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000122236 CA020290 RCV001296724 rs587778739 |
1445 | L>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001216097 rs2090523005 RCV002327506 |
1446 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596417662 RCV000813440 |
1448 | S>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2090523420 RCV001066102 RCV002327348 |
1448 | S>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2090524176 RCV001051041 |
1449 | S>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000562405 RCV000502912 RCV000232439 rs759004251 CA050898 |
1449 | S>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs376381196 CA050903 RCV000550016 RCV001569152 RCV002330903 |
1450 | P>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001053501 RCV002327312 rs45517338 RCV002509600 CA394301560 |
1450 | P>H | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000042552 VAR_018602 RCV001079491 rs45517338 RCV000562910 CA020293 RCV000713934 |
1450 | P>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000550782 RCV000055122 RCV000817575 RCV000055246 rs397514939 |
1451 | R>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000537369 rs1555514354 |
1451 | R>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000465620 RCV001568800 rs369553241 RCV001022340 CA050953 |
1451 | R>C | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs369553241 CA050943 RCV000533905 RCV001022339 |
1451 | R>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001082242 CA050956 rs142848358 RCV000443899 RCV001022342 |
1451 | R>H | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs369553241 RCV001022338 RCV000557731 CA050936 |
1451 | R>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs781641545 RCV000685657 |
1451 | R>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055462 rs397515175 |
1452 | S>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs45517339 CA020316 RCV000042553 RCV002273945 |
1452 | S>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000190032 CA020322 RCV000043095 RCV001022345 RCV001088217 rs45517339 |
1452 | S>L | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000055548 rs397515237 |
1453 | P>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001022358 RCV001050539 CA020332 RCV000043096 rs137854366 |
1454 | S>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA050988 RCV001294962 RCV002327632 rs758233186 |
1454 | S>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000702975 rs758233186 CA394301658 |
1454 | S>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV003153783 RCV002256435 rs1320400029 CA394301688 RCV000644067 |
1454 | S>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000055548 rs397515238 |
1454 | S>T | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000713935 RCV002532962 rs1567524174 CA394301717 |
1455 | G>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002327564 RCV001234286 rs1199848222 |
1456 | L>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000456485 CA16614754 rs1060500952 |
1457 | R>Q | Tuberous sclerosis 2 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000644088 rs746729857 CA051001 RCV002483857 |
1457 | R>W | Tuberous sclerosis 2 Lymphangiomyomatosis [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000813537 rs137854046 RCV000043097 |
1458 | P>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000592461 RCV002331007 CA394301760 rs1189784704 RCV001084298 |
1458 | P>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001044787 RCV000055147 rs397514959 |
1459 | R>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042554 rs137854038 |
1459 | R>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM3817471 COSM3817472 RCV002326764 rs45517340 RCV000043253 RCV000190004 RCV000201120 CA020356 |
1459 | R>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Tuberous sclerosis syndrome breast [Ensembl, ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
rs1555514409 RCV001235940 |
1459 | R>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001235215 CA394301805 RCV000573101 rs1555514409 |
1459 | R>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397514977 RCV000055173 CA020371 |
1461 | Y>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001022397 rs373018205 CA051006 RCV000934634 RCV001427433 |
1462 | T>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA394301875 RCV001873357 rs1596418078 RCV001022411 |
1464 | S>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001296779 rs1425542648 |
1465 | D>H | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001862216 CA394301892 COSM3387278 rs1425542648 COSM3387277 RCV001022415 |
1465 | D>N | Tuberous sclerosis 2 pancreas Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs45517341 CA020377 RCV002513631 RCV000043254 |
1466 | S>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA051016 RCV000226937 RCV000422566 rs45517341 RCV002315686 |
1466 | S>L | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001216098 rs2090530802 |
1467 | A>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515065 RCV000055299 |
1467 | A>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs774980656 RCV002327547 CA051039 RCV001230019 |
1467 | A>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2090531407 RCV001240632 |
1467 | A>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515004 RCV000055217 |
1468 | P>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001071091 rs1217359412 |
1468 | P>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002331190 rs762423563 RCV000644171 CA051050 |
1468 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA020403 rs45517342 RCV000043152 |
1469 | S>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003160345 CA276753473 RCV001045964 rs907136617 |
1469 | S>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000458065 RCV001022436 rs767889030 RCV001529238 CA051067 |
1470 | R>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1060500969 RCV001770315 RCV000472949 CA16614762 RCV002256249 |
1470 | R>H | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000055267 rs397515041 |
1471 | R>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001085474 CA051085 rs558737770 RCV000574358 RCV000842193 |
1472 | G>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs2090534118 RCV001341263 |
1472 | G>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515136 RCV000055399 CA020420 |
1473 | K>Q | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1219556604 RCV000713937 RCV001087681 CA394302120 |
1473 | K>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000042555 rs137854307 RCV000491261 RCV001852881 |
1474 | R>missing | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs766719443 RCV000462201 CA051088 |
1474 | R>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001212117 rs2090535225 |
1474 | R>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854293 RCV000042748 |
1475 | V>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394302176 RCV002327498 RCV001214846 RCV001773479 rs1202676769 |
1475 | V>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs137854035 RCV000042556 |
1476 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002329307 rs765447466 RCV001338454 |
1476 | E>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000189932 CA051101 RCV000218843 rs376946970 RCV000458406 |
1476 | E>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000685253 CA394302189 rs376946970 |
1476 | E>Q | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000701449 rs1567524949 |
1477 | R>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs752693719 CA051117 RCV002332482 RCV000701877 |
1477 | R>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000796334 CA276753515 rs76934857 |
1477 | R>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV000474980 RCV001086757 RCV000043192 CA020460 rs45517343 RCV001022469 |
1478 | D>H | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002051724 RCV002331192 RCV000644237 rs45517343 CA394302242 |
1478 | D>N | Tuberous sclerosis 2 Vascular dementia Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA394302256 rs1596418447 RCV000795284 |
1478 | D>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000458532 rs777529733 RCV001022474 RCV000500804 CA16615031 |
1479 | A>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001521315 RCV002326778 RCV000055553 CA020465 rs397515242 RCV001711164 |
1479 | A>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs397514963 RCV000055154 |
1480 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs45446594 RCV001852900 RCV000043193 CA020472 |
1480 | L>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555514548 RCV000644151 |
1481 | K>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394302327 RCV000810642 rs1596418520 |
1481 | K>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2090538903 RCV001319046 |
1481 | K>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001211539 rs2090538754 RCV002327488 |
1481 | K>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854312 RCV000701433 RCV000042557 |
1482 | S>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001022496 RCV001721238 RCV000527710 CA051170 rs199644840 |
1483 | R>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000055556 RCV000475203 RCV000831461 rs370114027 CA020481 RCV000566285 |
1483 | R>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000043260 rs137854387 |
1484 | A>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002331189 CA051214 rs772667717 RCV000644158 |
1485 | T>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000796604 rs1596418612 CA394302419 |
1485 | T>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs773527337 RCV000562149 RCV000517116 RCV000470481 CA051222 |
1486 | A>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000691941 CA051248 RCV002485649 RCV002332432 rs766916450 |
1487 | S>C | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1203541600 RCV002332708 RCV000821429 CA394302462 |
1488 | N>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2090541614 RCV001346627 |
1488 | N>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA276753586 RCV002331187 rs999699219 RCV000644143 |
1488 | N>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001306178 rs999699219 RCV002327670 |
1488 | N>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587778740 RCV000706466 CA020493 RCV000122237 RCV001022523 |
1489 | A>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596418744 CA394302489 RCV001022525 |
1489 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394302508 RCV001859982 RCV000565264 rs1221986548 CA394302506 |
1490 | E>D | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2090542594 RCV001050863 |
1490 | E>D* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs759882146 RCV000227544 CA051259 RCV000572080 RCV003153526 |
1490 | E>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2090542133 RCV001066969 |
1490 | E>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043261 rs137854350 |
1491 | K>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2090542726 RCV001302943 |
1491 | K>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1266546987 RCV001218203 CA394302529 |
1491 | K>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001040678 rs2090543060 |
1491 | K>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000688455 rs397515023 RCV000233034 RCV001197078 RCV000279478 RCV000055241 |
1492 | V>missing | Lymphangiomyomatosis Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001022538 RCV000230458 rs878854108 CA10583335 |
1493 | P>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001302628 rs2090543900 |
1493 | P>Q | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001059810 RCV001567350 RCV001022559 rs1030218603 CA276753631 |
1495 | I>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2090544468 RCV001047076 |
1496 | N>D | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042751 CA020517 VAR_009445 RCV002326760 rs45497997 |
1497 | P>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome TSC2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA020513 rs45517344 RCV001230160 RCV000055424 |
1497 | P>S | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA020509 rs45517344 RCV001852889 RCV000042750 |
1497 | P>T | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_009446 COSM3402165 COSM3402166 RCV000042558 CA020535 rs137854879 |
1498 | S>N | Variant assessed as Somatic; impact. central_nervous_system Tuberous sclerosis syndrome TSC2 [NCI-TCGA, Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000055526 CA020540 rs137854879 RCV002287358 |
1498 | S>T | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596422033 RCV001022575 CA394302686 |
1499 | F>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs372974007 CA394302692 RCV000702542 |
1499 | F>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1596422033 RCV001339555 |
1499 | F>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515194 RCV000055488 |
1500 | V>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055593 rs397515278 |
1500 | V>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394302703 rs45517347 RCV000813438 |
1500 | V>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002514168 RCV000042754 CA020562 rs45517347 |
1500 | V>G | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM87826 CA020558 rs397515167 RCV000813618 RCV000518605 COSM398945 RCV000166370 RCV000055449 |
1500 | V>M | lung Tuberous sclerosis 2 Lymphangiomyomatosis pancreas Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV001218608 rs2090578878 |
1501 | F>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042559 rs137854160 RCV003156732 |
1502 | L>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000811216 RCV002332668 rs928525608 CA394302726 |
1502 | L>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002477138 RCV000627231 RCV000553662 CA020569 RCV000042560 rs45517348 |
1503 | Q>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Lymphangiomyomatosis Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002250506 RCV000042758 rs45517349 CA020576 |
1503 | Q>H | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001039992 rs45517348 |
1503 | Q>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000013210 CA020573 RCV000043266 RCV000492813 rs45516293 RCV002316192 |
1503 | Q>P | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394302741 rs45516293 RCV000546695 |
1503 | Q>R | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000461821 RCV002318521 CA051475 rs747613240 |
1504 | L>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs45501793 RCV000042759 CA020580 |
1504 | L>H | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001281109 CA020588 RCV000055298 CA020584 RCV000043071 rs45471791 |
1505 | Y>* | Tuberous sclerosis 2 Tuberous sclerosis 2 (tsc2) Tuberous sclerosis syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001316422 rs2090580905 |
1505 | Y>C | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854017 RCV000043267 |
1506 | H>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2090581620 RCV001323870 |
1506 | H>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001042932 rs2090581620 |
1506 | H>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1173459869 CA394302760 RCV001764575 RCV002341363 RCV000542919 |
1506 | H>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001202351 rs781736405 |
1507 | S>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000560022 rs746246149 CA394302783 RCV002341364 |
1507 | S>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394302786 rs746246149 RCV001078813 RCV001022632 RCV000497607 |
1507 | S>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA051496 RCV002331186 rs746246149 RCV000644095 |
1507 | S>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000705538 rs1567526941 |
1509 | F>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001753574 RCV000535938 CA020614 RCV000568343 CA394302842 RCV000167342 rs775919951 RCV001230620 |
1509 | F>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_005660 | 1509 | F>del | TSC2; unknown pathological significance [UniProt] | Yes | UniProt |
|
RCV000034659 RCV000042561 RCV000131063 RCV000122238 RCV000206029 rs137854239 |
1510 | F>missing | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2090583733 RCV001343657 |
1510 | F>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2090584159 RCV001227480 |
1510 | F>LC | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2090583886 RCV001327191 |
1510 | F>Y | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2090584497 RCV001294452 |
1512 | D>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs774441486 CA051534 RCV001212693 |
1512 | D>H | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16614792 rs774441486 RCV000459439 RCV001249140 RCV001022659 |
1512 | D>N | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000042765 RCV000491824 rs137854028 |
1513 | E>missing | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596422775 RCV001022662 RCV001227164 CA394302919 |
1513 | E>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000459338 CA051548 RCV002339131 rs767449740 |
1513 | E>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000360616 RCV002336156 RCV000201030 rs137854175 RCV000042563 |
1515 | N>missing | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001059542 rs2090586394 |
1515 | N>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002336695 CA394302976 RCV000818125 rs1596422969 |
1516 | K>E | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002341657 rs1057522800 RCV001321059 RCV001760405 |
1517 | P>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394303002 RCV003163715 rs1279603512 RCV001222211 |
1517 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000989437 rs1279603512 CA394303001 |
1517 | P>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1057522800 CA16606959 RCV001088704 RCV002328973 RCV000442144 |
1517 | P>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1204199739 RCV001313056 RCV003166783 |
1518 | I>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA051585 RCV001546708 RCV000548577 RCV000571084 rs764903148 |
1518 | I>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394303025 RCV000537005 rs1555514956 |
1519 | L>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000463834 CA16614796 rs1060500966 |
1521 | P>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1468281970 RCV002497691 CA394303051 RCV002339502 RCV001202384 |
1521 | P>S | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001319733 rs2090589266 RCV002476493 |
1522 | N>D | Tuberous sclerosis 2 Lymphangiomyomatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs144062721 RCV001853515 COSM3787107 RCV000219583 CA10579902 COSM3787108 |
1522 | N>I | Tuberous sclerosis 2 pancreas Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002257398 RCV000055330 RCV001200216 rs144062721 CA020652 RCV000472991 |
1522 | N>S | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs137854411 RCV000043273 |
1523 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003166467 rs777406873 RCV001236862 |
1523 | E>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001340901 rs2090589588 |
1523 | E>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000542407 RCV000760616 CA394304306 CA394304297 rs1441428144 |
1524 | S>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2090620654 RCV001039926 |
1525 | Q>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854425 RCV001194687 RCV000042564 |
1525 | Q>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000190034 rs45517352 RCV000042565 RCV001042432 CA020707 |
1525 | Q>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs45517352 RCV000821259 RCV002478922 CA394304316 RCV003222146 |
1525 | Q>E | Tuberous sclerosis 2 Lymphangiomyomatosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA394304325 rs1596426462 RCV000792166 |
1525 | Q>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596426554 RCV001022728 CA394304356 |
1526 | S>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000574084 RCV000475369 rs796053498 CA319534 |
1526 | S>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000042566 rs137854407 |
1527 | F>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA020719 RCV000042733 RCV001022730 RCV000644318 rs45514391 RCV001697067 |
1527 | F>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs745860116 RCV003166226 RCV000803252 CA394304392 |
1527 | F>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs137854329 RCV000043104 |
1528 | E>* | Variant assessed as Somatic; impact. Tuberous sclerosis syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA ClinVar dbSNP |
|
CA020727 RCV000815033 RCV001022737 rs199848388 RCV000034660 |
1528 | E>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001052273 RCV003156307 rs2090622255 RCV002339262 |
1528 | E>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs769834772 RCV001351367 |
1529 | R>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394304453 RCV002341366 rs769834772 RCV000538611 RCV002491059 |
1529 | R>Q | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA276754888 rs1051502900 RCV000644320 RCV002334136 |
1529 | R>W | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000694999 rs1567528487 RCV001022741 CA394304471 |
1530 | S>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854282 RCV000043105 |
1531 | V>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000550192 rs886041919 CA10603520 RCV000403179 |
1532 | Q>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394304571 rs1567528528 RCV000694234 |
1533 | L>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042567 rs137854374 CA020740 |
1534 | L>H | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs375520841 RCV001237474 |
1534 | L>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043285 rs137854401 |
1535 | D>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA020755 RCV000055439 rs397515160 |
1535 | D>A | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000565969 RCV001859979 CA394304645 rs1555515283 |
1535 | D>E | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA051924 COSM1268758 COSM1268757 RCV002337030 RCV000981686 rs45517353 |
1535 | D>N | Tuberous sclerosis 2 oesophagus Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV000055527 CA020759 RCV002513724 rs397515160 |
1535 | D>V | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA020751 RCV000043284 rs45517353 RCV000695774 |
1535 | D>Y | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs45495796 CA020763 RCV000042735 |
1536 | Q>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000702237 CA051935 rs760056622 RCV002334356 |
1537 | I>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001046628 RCV002339236 rs1060500930 |
1538 | P>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001341252 RCV002329317 CA051949 rs753060862 |
1538 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs753060862 CA394304708 RCV003106024 RCV002334362 RCV000702646 |
1538 | P>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002311771 RCV000470575 CA16615034 rs1060500930 |
1538 | P>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA020767 rs45455897 RCV001215383 RCV000043115 RCV000042736 RCV001831715 CA020771 |
1540 | Y>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001280903 rs2090626831 |
1541 | D>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001022800 rs796872464 RCV000644241 CA276754962 |
1541 | D>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000055400 rs397515137 |
1541 | D>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055218 rs397515005 |
1541 | D>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001352578 rs2090628070 |
1542 | T>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2090628516 RCV001249600 |
1543 | H>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000691448 rs1567528890 RCV002259003 CA394304847 |
1543 | H>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854308 RCV000043286 |
1544 | K>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001050709 rs2090629229 |
1544 | K>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001040088 RCV001813810 RCV002339198 rs757388437 |
1545 | I>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10583336 RCV000233971 rs878854109 RCV003165608 |
1545 | I>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2090630615 RCV001236628 |
1546 | A>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001302889 RCV002327660 rs1332979299 |
1546 | A>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1332979299 RCV001022821 CA394304918 RCV001066426 |
1546 | A>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs397514988 RCV000660349 CA394304945 |
1547 | V>D | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397514988 RCV000055189 CA020797 |
1547 | V>G | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000228875 RCV000477702 RCV000564060 VAR_078847 CA051988 rs745895675 |
1547 | V>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Isolated focal cortical dysplasia type II FCORD2; somatic mutation; decreased function in negative regulation of TOR signaling; does not affect interaction with TSC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000013200 rs137854083 RCV000042568 |
1548 | L>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055306 CA020803 rs397515070 |
1548 | L>P | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042740 rs137854424 |
1549 | Y>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055249 CA020815 rs397515028 |
1549 | Y>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA020809 VAR_005661 rs45517355 RCV000042739 RCV001036250 RCV000412893 |
1549 | Y>C | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome TSC2 [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs45488595 RCV000042738 CA020806 |
1549 | Y>N | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2090633103 RCV001297190 |
1550 | V>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA020818 RCV000055126 rs397514942 |
1552 | E>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002336157 RCV000691590 rs137854146 RCV000042570 |
1552 | E>missing | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042569 rs137854111 |
1553 | G>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001225656 RCV001664766 rs2090634038 |
1553 | G>D | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001235987 rs2090634528 |
1554 | Q>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA020857 rs137854880 RCV000042746 RCV000055499 CA020854 RCV001232925 |
1554 | Q>H | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA020835 RCV000043132 rs45473296 |
1554 | Q>P | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555515982 RCV000644089 CA394306834 |
1555 | S>C | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001056019 rs1354678802 CA394306842 RCV002339281 |
1555 | S>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000055603 rs397515283 |
1556 | N>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043058 rs137854416 |
1556 | N>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394306877 RCV000701073 rs1567532307 |
1556 | N>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001219658 RCV002485420 CA10579903 RCV001566498 rs151140709 RCV000219987 |
1557 | S>R | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs45517360 RCV001194688 |
1558 | E>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs45517360 CA020888 RCV001200217 RCV000043059 RCV003162358 RCV001054560 |
1558 | E>K | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002341647 RCV001317217 CA394306971 rs1327797297 |
1559 | L>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000791824 rs777539610 CA394306995 |
1560 | A>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001771882 rs777539610 RCV001766382 CA052272 RCV000644117 RCV001022882 RCV003153784 |
1560 | A>T | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Ovarian cancer [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2090766850 RCV001304950 |
1560 | A>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2090767182 RCV001322649 |
1561 | I>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515051 RCV000055277 |
1562 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA020902 RCV000713940 RCV000043318 rs45517362 RCV002336165 RCV000989438 |
1562 | L>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876659806 RCV000222570 RCV001308853 CA10579904 |
1564 | N>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042760 rs137854171 |
1565 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs762372483 RCV001212394 RCV002339550 |
1565 | E>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042761 rs137853974 |
1566 | H>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001049148 rs1596438391 |
1566 | H>D | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001022909 CA394307245 rs1596438391 RCV000800701 |
1566 | H>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA020917 RCV002336166 rs45517364 RCV000043320 |
1567 | G>D | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000055542 CA020919 rs45517364 |
1567 | G>V | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000532722 CA394307306 RCV001022928 rs1555516036 |
1568 | S>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854240 RCV000042575 |
1569 | Y>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA020928 RCV002513725 RCV000055592 rs397515277 |
1569 | Y>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2090771064 RCV001229107 |
1569 | Y>C | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000689426 rs1567532712 CA394307321 |
1569 | Y>H | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000055197 rs397514992 |
1570 | R>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs45517365 RCV001294465 |
1570 | R>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA276756224 rs397514980 RCV001772137 RCV002332711 RCV000822193 |
1570 | R>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397514980 CA020934 RCV000055177 |
1570 | R>T | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA020931 rs45517365 RCV000042576 |
1570 | R>W | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042779 rs45517366 CA020943 |
1571 | Y>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA020940 RCV000042778 RCV001852890 rs45478894 |
1571 | Y>C | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397514905 CA394307381 RCV000644175 |
1571 | Y>H | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397514905 CA020937 RCV000055080 |
1571 | Y>N | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003163686 RCV002504273 RCV001219284 rs1327099376 CA394307430 RCV003153948 |
1572 | T>M | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1567532847 RCV000698697 CA394307454 |
1573 | E>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001230321 rs2090773157 |
1573 | E>Q | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394307501 RCV002339323 RCV001064798 rs565576095 |
1574 | F>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000042578 rs137854143 |
1576 | T>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854039 RCV000043027 |
1576 | T>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001040921 CA052372 rs45437192 RCV002339202 |
1576 | T>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000042577 rs45437192 CA020954 RCV000545050 RCV001022958 RCV001697037 |
1576 | T>M | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000521061 RCV000055460 rs397515173 |
1577 | G>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000190037 RCV001307603 CA319537 RCV002517024 rs796053499 |
1577 | G>S | Tuberous sclerosis 2 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000043361 CA020960 RCV000820413 rs45517367 |
1578 | L>P | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs917807471 RCV001210084 RCV003163596 |
1578 | L>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003166460 RCV001236005 rs397515222 |
1579 | G>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA020963 rs45503995 RCV002298454 RCV000043223 |
1579 | G>S | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000055528 rs397515222 CA020966 |
1579 | G>V | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001051648 rs2090775918 |
1580 | R>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394307634 RCV001037835 RCV002337101 rs1371745883 |
1580 | R>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001081117 CA052399 RCV000687545 RCV002334263 rs777592623 |
1580 | R>W | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs137854356 RCV000042721 |
1582 | I>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042720 rs137854148 |
1582 | I>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001862243 RCV001022982 rs751305758 CA394307701 |
1582 | I>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs886039446 RCV002338812 RCV000707658 CA10588598 RCV000256049 |
1583 | E>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1596439004 RCV001046376 CA394307722 |
1583 | E>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA020979 rs137854203 RCV002514176 RCV000043362 RCV002326765 |
1584 | L>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000754676 rs1567533189 |
1585 | K>missing | Autism spectrum disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055119 rs397514937 |
1585 | K>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394307814 rs1366814192 CA394307812 RCV001222068 RCV002317505 |
1586 | D>E | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2090779491 RCV001071720 |
1587 | C>Y | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043363 RCV000201115 CA020985 RCV000991340 rs45479192 |
1588 | Q>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000689904 rs876659800 RCV000214246 CA10579905 |
1588 | Q>H | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000823493 CA052421 rs373635516 RCV001023009 |
1589 | P>L | Variant assessed as Somatic; 4.624e-05 impact. Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2090780608 RCV001298036 |
1590 | D>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2090780462 RCV001230052 RCV002339631 |
1590 | D>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001023019 rs1596439144 CA394307896 RCV003117699 |
1591 | K>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000043364 rs137854009 |
1592 | V>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055058 rs397514889 |
1593 | Y>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA020994 rs45517368 RCV000043086 |
1593 | Y>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs45511204 VAR_009447 CA020997 RCV000042723 |
1594 | L>M | Tuberous sclerosis syndrome TSC2; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000042724 RCV001852888 CA021000 RCV003162357 RCV001508405 rs45517369 |
1595 | G>R | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001312704 rs2090782530 |
1596 | G>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515014 RCV001338565 |
1596 | G>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA021002 RCV000055229 rs397515014 |
1596 | G>V | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs45517370 RCV000042580 CA021009 |
1597 | L>P | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001862248 rs548102930 RCV001023056 CA394308008 |
1598 | D>E | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs772687631 RCV002550880 CA394308011 RCV001023059 RCV001035577 |
1599 | V>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs772687631 RCV000415747 RCV000570208 CA052464 RCV001088185 |
1599 | V>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000694779 rs1567533467 |
1600 | C>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000801936 rs1596439356 CA394308037 |
1600 | C>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2090784696 RCV001034833 |
1602 | E>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000566900 rs1177233720 CA394308063 RCV001326558 |
1602 | E>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2090784195 RCV001250763 |
1602 | E>VW* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001247159 rs2090785469 |
1604 | G>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001069066 rs397514888 CA021019 RCV000055057 |
1605 | Q>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1001010265 RCV001224155 |
1605 | Q>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000989439 rs1596439426 |
1605 | Q>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001226842 rs2090786390 |
1606 | F>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043099 rs137854399 RCV001225142 |
1608 | Y>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854139 RCV000043098 |
1608 | Y>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs759795928 RCV002330908 RCV000547996 CA052633 |
1608 | Y>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10583339 rs878854111 RCV002338708 COSM1376453 COSM1376452 RCV000232722 |
1608 | Y>N | Tuberous sclerosis 2 large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs759795928 CA394308099 RCV000569255 |
1608 | Y>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000043226 rs137854134 |
1609 | C>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854230 RCV000042734 |
1610 | W>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596439555 CA915946312 RCV000802862 |
1610 | W>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000268236 RCV000042583 RCV002513619 rs45517371 CA021071 |
1610 | W>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001047663 CA021078 RCV000043107 rs45517372 |
1610 | W>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA021068 rs397514966 RCV000055158 RCV002514277 |
1610 | W>G | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596439600 RCV000798745 CA394308119 |
1611 | H>Y | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000415620 rs886051795 RCV002338901 CA10637331 RCV000330059 |
1612 | D>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002510926 rs886051795 RCV002528997 RCV000575323 CA394308125 |
1612 | D>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2090789775 RCV001049569 |
1614 | I>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854331 RCV001283509 RCV000042585 RCV000201210 |
1614 | I>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394308140 rs1555516299 RCV000564061 |
1614 | I>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_005662 | 1614 | I>del | TSC2 [UniProt] | Yes | UniProt |
|
RCV001797832 RCV001760304 rs2090790316 RCV001260880 |
1615 | M>I | Tuberous sclerosis 2 Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2090790157 RCV001039897 |
1615 | M>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042586 RCV001091866 CA021087 RCV000470698 rs45455296 |
1616 | Q>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000570875 CA394308158 RCV001853806 rs1555516313 |
1616 | Q>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002330909 CA394308217 RCV000528404 rs1412545821 |
1617 | A>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001051397 RCV002339257 rs2090791005 |
1617 | A>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854227 RCV000043233 |
1618 | V>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA052943 rs377129517 RCV002315687 RCV000229416 |
1618 | V>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs397515084 RCV000055324 |
1619 | F>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854357 RCV000043195 |
1619 | F>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA021144 RCV000042749 rs45514993 |
1619 | F>S | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002513723 CA021150 RCV000055464 RCV000590930 rs397515177 |
1620 | H>R | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_009448 CA021147 rs45446901 RCV000042587 RCV001383217 |
1620 | H>Y | Tuberous sclerosis 2 Tuberous sclerosis syndrome TSC2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1555516628 CA394308263 RCV000644202 |
1621 | I>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394308262 RCV001023167 RCV001067636 rs1555516628 RCV001578205 |
1621 | I>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001023169 CA052965 rs769913589 RCV000644406 |
1622 | A>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000043089 rs137854187 |
1623 | T>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs749501410 RCV001041205 |
1623 | T>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001854154 RCV000413607 RCV000055523 CA021153 rs397515220 |
1623 | T>I | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000524930 CA052981 rs749501410 RCV001023171 |
1623 | T>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2090851576 RCV001055793 |
1624 | L>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042589 rs137854095 |
1624 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042767 rs137854221 CA021169 |
1624 | L>P | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042768 rs137854257 |
1625 | M>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000498406 RCV000055109 rs137854050 |
1627 | T>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555438434 CA394308333 RCV000541803 RCV002330910 |
1627 | T>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854152 RCV001324428 |
1629 | D>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA053023 RCV001047283 rs767444397 RCV002339238 |
1629 | D>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs886051796 RCV001350311 |
1630 | V>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001079540 RCV000371761 CA10648023 RCV000839227 RCV001023201 rs886051796 |
1630 | V>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2090855331 RCV001217703 |
1631 | D>Y | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001217764 rs2090855880 |
1632 | K>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555438475 CA394308423 RCV000644153 |
1632 | K>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001314556 RCV002336506 rs760457821 RCV000725350 CA053034 |
1634 | R>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA021194 RCV000477100 RCV000122239 rs201694466 RCV000572602 |
1634 | R>H | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA021197 rs397514999 RCV000055210 |
1635 | C>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1555438494 RCV000644232 CA394308460 |
1635 | C>Y | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000189937 RCV000043146 rs45482398 VAR_022921 RCV001023245 CA021203 RCV000644309 |
1636 | D>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000043147 rs137854049 |
1637 | K>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055377 rs397515117 |
1637 | K>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854267 RCV000043241 |
1637 | K>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000812492 CA394308497 rs1596443444 |
1637 | K>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854233 RCV000042590 |
1638 | K>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854094 RCV000690094 CA394308530 CA021252 RCV000043160 |
1638 | K>N | Tuberous sclerosis 2 Tuberous sclerosis 2 (tsc2) Tuberous sclerosis syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000201053 rs137854261 RCV000517321 RCV000043159 |
1638 | K>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055490 rs397515196 |
1639 | R>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000644225 RCV001861664 RCV002483859 RCV002334134 rs1555438551 CA394308533 |
1639 | R>C | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854153 CA021258 RCV000042592 |
1639 | R>L | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000055475 rs397515184 |
1640 | H>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA021276 RCV001852204 RCV000594599 rs794727602 |
1640 | H>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555438576 RCV001045949 |
1640 | H>Q | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394308553 RCV002334225 rs794727602 RCV000660350 |
1640 | H>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042593 rs45485092 RCV001042053 CA021270 |
1640 | H>Y | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854156 RCV000042715 RCV000993372 |
1642 | G>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001233500 rs137854343 |
1642 | G>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854343 RCV000043245 RCV001238557 CA021290 RCV002345329 |
1642 | G>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs45517379 RCV000478359 CA021298 RCV000043177 |
1643 | N>H | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000043178 CA021309 VAR_005663 rs45517380 |
1643 | N>I | Tuberous sclerosis syndrome TSC2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs45517381 VAR_009449 CA021316 RCV000043246 |
1643 | N>K | Tuberous sclerosis syndrome TSC2; Abolishes GAP activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA021305 rs45517380 RCV000055457 |
1643 | N>S | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001023287 CA394308669 rs1395198412 |
1644 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA021324 RCV000043247 rs137853999 |
1644 | D>H | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000340816 RCV002338902 RCV000475549 CA053097 rs137853999 |
1644 | D>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs137853999 RCV001350488 |
1644 | D>Y | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042717 RCV000043248 rs137854141 RCV000201116 |
1645 | F>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001023292 CA394308678 RCV001201886 rs1596443758 |
1645 | F>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001037582 RCV000055347 rs137854141 |
1646 | V>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055065 rs397514892 CA021354 |
1646 | V>G | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1064796970 RCV000480140 CA16620103 RCV000555170 |
1646 | V>M | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001068526 RCV002339340 rs2090863579 |
1647 | S>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001318474 rs2090863579 |
1647 | S>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001231751 rs749554579 |
1648 | I>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002514167 rs45471896 CA021368 RCV001557106 RCV000042718 |
1648 | I>T | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001023302 rs749554579 CA053109 RCV000463907 |
1648 | I>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs768846712 RCV000793310 CA053113 RCV002343651 |
1649 | V>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002336158 RCV000042594 RCV000590964 VAR_005664 rs45501091 CA021378 |
1650 | Y>C | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Tuberous sclerosis syndrome TSC2 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV001055698 rs45501091 |
1650 | Y>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042719 rs137854212 CA021371 |
1650 | Y>N | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001060045 rs2090865155 |
1651 | N>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060500950 RCV000469350 |
1651 | N>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001239691 RCV002339664 rs2090865014 RCV001760262 |
1651 | N>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000359328 VAR_009450 CA021383 COSM87856 rs45517382 RCV002336159 RCV000543686 RCV000042595 |
1651 | N>S | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 pancreas Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome TSC2; greatly reduces the ability to enhance the RHEB GTPase activity [Ensembl, ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA021398 rs45517383 RCV001242240 VAR_018603 RCV000042596 |
1653 | S>F | Tuberous sclerosis 2 Variant assessed as Somatic; impact. Tuberous sclerosis syndrome TSC2 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
CA021390 rs397515159 RCV000989440 RCV000055434 |
1653 | S>P | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs771911660 CA394308945 RCV002339539 RCV001210156 |
1654 | G>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000544487 RCV001558778 CA053141 rs771911660 RCV001023328 |
1654 | G>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003159845 RCV000557034 CA394308957 rs1555438692 |
1654 | G>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567124767 RCV000693285 CA394309038 |
1656 | D>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000043256 rs137854181 |
1657 | F>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001023346 CA10583340 rs878854112 RCV000228578 RCV000761036 |
1657 | F>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2090867792 RCV001295637 |
1658 | K>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001314594 rs2090867792 |
1658 | K>Q | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001023350 rs1050594534 CA16615040 RCV000469448 |
1658 | K>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA021430 RCV000043258 rs45517385 |
1659 | L>F | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1189857262 RCV001344680 |
1660 | G>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001023353 rs1189857262 CA394309163 |
1660 | G>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002483447 CA394309167 RCV000537468 RCV002341369 rs1189857262 |
1660 | G>V | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs776541842 RCV000545542 CA394309184 |
1661 | T>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1567124948 RCV001226737 |
1663 | K>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000644254 rs1555439653 |
1664 | G>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000302325 RCV000042600 RCV001048099 rs45448101 CA021488 |
1665 | Q>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA053452 RCV000575063 RCV000189938 rs757221445 RCV001225081 RCV001088052 |
1666 | F>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1596454907 CA394310980 RCV000814014 |
1666 | F>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002334253 RCV000686009 CA394310996 rs1182240785 |
1667 | N>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001319580 rs551938797 |
1667 | N>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000685641 CA394311008 rs1237105821 |
1667 | N>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002334252 CA394311065 RCV000685864 rs745787082 |
1668 | F>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA394311049 rs1555439678 RCV002341370 RCV000526836 |
1668 | F>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001347149 rs2091047035 |
1669 | V>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596454994 CA394311129 RCV001023412 |
1670 | H>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394311148 rs376306544 RCV000796900 |
1670 | H>Q | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA053487 RCV001298231 rs775395648 RCV002350533 |
1671 | V>M | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001770314 rs374066182 RCV001023422 CA053492 RCV000466909 RCV001538711 |
1672 | I>V | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs2091048308 RCV001194689 |
1673 | V>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA021514 RCV000055303 rs397515067 |
1673 | V>D | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001342211 rs45490993 RCV000055369 RCV002336203 CA021508 |
1673 | V>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000469641 RCV000055068 rs45490993 RCV000563588 RCV001551734 CA021497 |
1673 | V>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000568994 RCV000122240 VAR_022922 rs45490993 RCV000535012 RCV001703934 RCV000042755 CA021502 |
1673 | V>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA394311241 RCV001770446 RCV000527761 rs1555439727 |
1674 | T>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs45500595 CA021521 RCV000043064 |
1674 | T>P | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394311243 RCV000644186 rs1555439727 |
1674 | T>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397514915 RCV000055092 |
1675 | P>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043065 RCV000493720 RCV000055436 VAR_009451 RCV002345240 CA021526 RCV002496339 COSM1636649 RCV000013201 rs45483392 |
1675 | P>L | lung Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Tuberous sclerosis syndrome TSC2 [Cosmic, Ensembl, ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000984876 RCV000644091 CA394311256 rs45483392 |
1675 | P>Q | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs201707249 CA394311278 RCV001023440 |
1676 | L>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000043271 rs137854382 |
1676 | L>W | Variant assessed as Somatic; impact. Tuberous sclerosis syndrome [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs137854198 RCV000042601 |
1677 | D>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001218024 rs1332296997 CA394311303 |
1677 | D>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001771980 CA394311288 rs1163037065 RCV000698973 RCV002334340 |
1677 | D>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs137854016 RCV000042696 |
1678 | Y>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042697 RCV000795199 rs45467993 CA021559 RCV001852886 CA021563 RCV000043118 |
1678 | Y>* | Variant assessed as Somatic; impact. Tuberous sclerosis 2 Tuberous sclerosis syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2091052317 RCV001302515 |
1678 | Y>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1389903110 RCV002334288 CA394311365 RCV000691222 |
1679 | E>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000189940 rs370404391 RCV001081308 RCV000585252 RCV000163808 CA021570 RCV000055511 |
1679 | E>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA394311390 rs1555439802 RCV000574872 RCV002526807 |
1680 | C>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555439802 RCV001299429 |
1680 | C>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000190039 CA053573 rs150558493 RCV002336507 RCV001084596 |
1680 | C>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA394311437 RCV000567505 rs1200837034 RCV001065808 RCV001764691 |
1681 | N>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs45476793 CA021576 VAR_009452 RCV000042602 |
1681 | N>K | Tuberous sclerosis syndrome TSC2; Abolishes GAP activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
RCV000817863 rs1596455074 |
1682 | L>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001236412 rs2091055727 |
1682 | L>Q | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2091055727 RCV001307550 |
1682 | L>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA021580 rs45517387 RCV000042603 |
1684 | S>P | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000662073 RCV000662075 rs1555439825 RCV000662074 |
1684 | S>Y | Tuberous sclerosis 2 Lymphangiomyomatosis Isolated focal cortical dysplasia type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854060 RCV000042699 |
1685 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA021591 RCV000713942 rs45517388 RCV000042700 |
1686 | Q>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA394311648 RCV001232017 RCV000528978 rs200700923 |
1686 | Q>H | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000055181 rs397514983 CA021595 |
1686 | Q>P | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002339204 rs2091058156 RCV001041014 |
1687 | C>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA658798495 RCV000644092 rs1555439847 |
1688 | R>S* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042701 rs137854315 RCV000822377 CA021601 RCV002336160 |
1689 | K>E | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA394311885 rs1596457380 RCV000798027 |
1690 | D>E | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854882 CA021629 RCV000042703 |
1690 | D>H | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394311729 rs137854882 RCV000644178 |
1690 | D>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042604 rs137854882 CA021630 RCV000553605 VAR_005665 |
1690 | D>Y | Tuberous sclerosis 2 Tuberous sclerosis syndrome TSC2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002348359 rs2091087331 RCV001042623 |
1691 | M>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515110 CA021670 RCV002336202 RCV000644174 RCV000055361 |
1691 | M>T | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Autism spectrum disorder [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP |
|
RCV002339196 RCV001039326 CA053878 rs767809848 |
1691 | M>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs137854037 RCV002292463 RCV000043333 |
1692 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2091087487 RCV001215628 |
1692 | E>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394311952 RCV001023500 RCV000644156 rs1358186613 |
1692 | E>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs137854280 RCV000042709 |
1693 | G>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001036922 RCV002337093 rs2091088245 |
1693 | G>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA053886 rs760781650 RCV001223544 |
1694 | L>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001232879 rs2091089201 |
1695 | V>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137853985 RCV000042710 |
1695 | V>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001245924 rs1555440048 |
1696 | D>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000546906 rs1555440048 CA394312051 RCV003159846 |
1696 | D>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001329370 rs777223264 RCV001859258 |
1697 | T>S | Tuberous sclerosis 2 Isolated focal cortical dysplasia type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs45514196 RCV000569332 RCV000122241 CA021705 RCV000042711 RCV000226602 |
1698 | S>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000701393 rs1267700080 CA394312131 |
1698 | S>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000570790 RCV000189942 CA053941 rs370864445 RCV000473026 |
1699 | V>M | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs45483700 RCV000644103 CA394312240 RCV001771881 |
1702 | I>M | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002483448 CA394312269 rs45498401 RCV002341372 RCV000543302 |
1703 | V>A | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs45498401 RCV000043335 CA021740 |
1703 | V>G | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2091092273 RCV002348655 RCV001202381 |
1703 | V>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055534 rs397515227 |
1704 | S>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001041938 CA394312277 rs45474691 RCV002339208 |
1704 | S>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000042608 CA021746 RCV000565772 VAR_009453 rs45474691 RCV001079156 RCV000441153 |
1704 | S>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome TSC2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs397515205 RCV000055501 RCV001250503 |
1705 | D>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000560241 RCV000821191 CA394312331 RCV002345894 CA394312327 rs1385591764 RCV001664442 |
1705 | D>E | Hereditary cancer-predisposing syndrome Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs137853981 RCV000043180 |
1706 | R>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000189943 RCV002222154 RCV001770064 RCV000043179 RCV000512881 RCV000571102 rs45517391 RCV001082733 CA021761 |
1706 | R>C | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000576072 CA021767 RCV000233434 RCV000042716 RCV003153329 rs45517392 RCV001079298 |
1706 | R>H | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs45517392 RCV002348383 RCV001048043 |
1706 | R>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1300582033 CA394312361 RCV002343302 RCV000644060 |
1707 | N>H | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA054000 RCV001721233 rs772439098 RCV002336505 RCV000462184 |
1707 | N>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001008090 RCV000042609 rs137854336 |
1708 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002345361 rs397515274 CA021783 RCV000055589 |
1708 | L>P | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs45517393 RCV000693889 VAR_008030 RCV000043196 CA021795 |
1709 | P>L | Tuberous sclerosis 2 Tuberous sclerosis syndrome TSC2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA021789 rs45517393 RCV000042610 RCV000517378 |
1709 | P>R | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001234451 rs2091094853 |
1709 | P>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055547 rs397515164 RCV000055444 |
1710 | F>missing | Lymphangiomyomatosis Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000811006 rs1315439478 CA394312445 |
1710 | F>C | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002482219 rs760978505 RCV001117883 |
1710 | F>L | Lymphangiomyomatosis Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394312457 RCV000543917 rs139779505 RCV002350297 |
1711 | V>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001770070 RCV000226075 COSM138992 RCV000564969 COSM138991 RCV000055187 RCV001703958 CA021813 RCV000189946 rs139779505 |
1711 | V>M | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome skin Tuberous sclerosis syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA021820 RCV000042725 rs45517394 |
1712 | A>D | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
| VAR_005666 | 1712 | A>E | TSC2 [UniProt] | Yes | UniProt |
|
rs1596457926 CA394312476 RCV000801997 |
1712 | A>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002343574 rs45517394 RCV000706814 CA054027 |
1712 | A>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000042726 RCV000043090 rs137854136 |
1713 | R>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs759420443 RCV000466636 CA054033 RCV002348293 |
1713 | R>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000254730 RCV000763367 RCV000043197 RCV000459221 CA021840 RCV000129852 rs45517395 |
1713 | R>H | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [Ensembl, ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA021846 rs45517395 RCV000201077 RCV000043198 |
1713 | R>P | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA16621548 rs759420443 RCV000487488 RCV000810759 |
1713 | R>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs878854115 RCV000227937 |
1714 | Q>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs45517396 RCV000506833 CA021852 RCV000793317 RCV000042611 |
1714 | Q>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394312581 rs758246234 RCV001023610 RCV000795940 |
1715 | M>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001296392 rs758246234 CA054058 RCV001751562 |
1715 | M>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000042743 rs137854321 |
1715 | M>T | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001071078 rs397514974 RCV000055170 RCV000569125 CA021857 |
1715 | M>V | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs45517397 CA021872 RCV000042744 |
1716 | A>P | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
CA394312611 RCV001342520 rs1420725409 |
1716 | A>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs45517398 RCV001797601 CA021894 RCV000042612 RCV000190040 |
1717 | L>P | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394312625 rs45517398 RCV000689052 |
1717 | L>R | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555440199 RCV001236515 |
1717 | L>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567130289 CA394312634 RCV000697932 |
1718 | H>D | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394312632 rs1567130289 RCV001023625 RCV001208888 |
1718 | H>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2091100543 RCV001299323 |
1719 | A>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001280886 rs201206500 |
1719 | A>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201206500 COSM1376459 RCV000572428 CA021901 COSM1376460 RCV003162430 RCV000468508 RCV000055435 |
1719 | A>T | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome Autism spectrum disorder [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs137854294 RCV000043203 |
1720 | N>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055496 rs397515202 |
1720 | N>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000537192 rs1555440225 CA394312679 |
1720 | N>D | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002513620 CA021987 rs137854883 RCV000042616 |
1720 | N>K | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000042620 RCV000013199 rs137854251 |
1721 | M>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA022042 rs45517407 RCV000042698 |
1721 | M>L | Variant assessed as Somatic; impact. Tuberous sclerosis syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA054307 RCV000658430 RCV002257695 RCV001086881 rs45517407 |
1721 | M>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000055584 CA022052 COSM702344 rs397515270 |
1722 | A>P | lung Tuberous sclerosis syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000818466 rs397515270 CA394313851 |
1722 | A>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000808494 rs397515270 CA394313849 |
1722 | A>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002493231 RCV002334351 rs1373235682 RCV000701459 CA394313865 |
1722 | A>V | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA16609418 rs1060499676 RCV000449506 RCV002502593 |
1723 | S>* | Tuberous sclerosis 2 Lymphangiomyomatosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002247426 RCV000043216 CA022058 rs45517408 RCV001366989 |
1723 | S>P | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042704 rs137854085 |
1724 | Q>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA022073 RCV000043217 RCV000201008 rs45472701 RCV002336162 |
1724 | Q>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000800828 rs774044431 CA394313940 |
1724 | Q>H | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001218813 rs923367492 CA276759308 RCV002339576 |
1724 | Q>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854077 RCV000042705 |
1725 | V>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515155 RCV000055429 |
1726 | H>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001304422 rs761618860 |
1726 | H>D | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000573694 rs1555440475 RCV000549406 CA394314050 |
1726 | H>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA054330 RCV000644161 rs761618860 RCV002334132 |
1726 | H>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394314093 RCV001023676 rs1596460080 RCV000816692 |
1727 | H>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596460117 RCV001204707 RCV002339515 |
1728 | S>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596460117 RCV000821373 CA394314108 |
1728 | S>N | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001697038 RCV000567321 RCV000459372 RCV001770063 rs45517409 RCV000043133 CA022096 |
1729 | R>C | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs45517409 RCV001234983 |
1729 | R>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001721239 RCV000230273 rs760395277 RCV001023681 CA054348 |
1729 | R>H | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
rs2091134565 RCV001232921 RCV002339639 |
1730 | S>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397514973 RCV000055169 |
1731 | N>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002527581 RCV000519477 rs1555440500 RCV003159666 CA394314156 |
1731 | N>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555440500 RCV001244122 |
1731 | N>H | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000557244 rs753336580 RCV000568990 CA394314174 |
1731 | N>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs766040643 RCV001325462 CA054360 |
1731 | N>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs759007975 CA394314192 RCV002334334 RCV001257268 RCV000697746 |
1732 | P>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000644058 rs1446388626 CA394314209 |
1732 | P>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555440518 RCV000565556 |
1733 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000467027 rs1064792922 |
1733 | T>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854400 RCV000043218 |
1733 | T>missing | Lymphangiomyomatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043219 rs137854091 |
1733 | T>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042621 rs137854414 |
1733 | T>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394314229 rs1596460327 RCV000806641 |
1733 | T>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596460327 RCV001223171 |
1733 | T>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394314276 rs878854117 RCV000538122 RCV002255449 |
1734 | D>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1748 CA022125 RCV000055236 CA276759437 |
1734 | D>E | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002339130 RCV000470291 rs878854117 CA16614798 |
1734 | D>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1596460422 CA915946265 RCV001023718 RCV001550915 RCV001797811 |
1734 | D>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA054398 rs751990617 RCV001023719 RCV000644311 |
1734 | D>N | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs878854117 CA10583344 RCV003223629 RCV002338712 RCV000234330 |
1734 | D>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002492675 RCV000526320 rs786203769 RCV000167217 CA022137 |
1735 | I>S | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000819482 RCV001023722 rs786203769 CA276759442 |
1735 | I>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002341373 rs781407050 RCV000550602 RCV000604770 CA054409 |
1735 | I>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs45517410 CA022148 RCV001781366 RCV000042713 |
1736 | Y>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000055280 RCV002266920 rs397515053 |
1737 | P>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002551879 RCV001023728 rs780112037 CA394314331 |
1737 | P>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs749326176 RCV000473435 CA054450 RCV001023737 RCV001546269 |
1737 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001675679 RCV000226974 rs780112037 RCV000564490 CA054437 |
1737 | P>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000989441 rs1596460606 |
1738 | S>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002525795 rs397515139 RCV000055403 RCV000486348 |
1739 | K>missing | Tuberous sclerosis syndrome Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042714 rs137854408 RCV002283448 |
1739 | K>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000388680 CA022169 RCV001852882 rs137854219 RCV000042622 |
1740 | W>* | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000042623 CA022177 rs45517411 RCV000802438 RCV000493371 |
1740 | W>* | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001853807 CA394314479 RCV000566162 rs45517411 |
1740 | W>C | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394314459 rs137854219 RCV001772198 RCV001023747 RCV001061035 |
1740 | W>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000042624 rs137854107 |
1741 | I>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA276759496 RCV000696603 RCV002334323 rs935521633 |
1741 | I>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA054501 rs140526185 RCV000469868 RCV002348294 RCV000497871 |
1741 | I>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
RCV000055557 rs397515245 |
1742 | A>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000043100 RCV001249601 rs45517412 CA022207 |
1743 | R>G | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001814036 RCV000055513 CA022229 rs45507199 |
1743 | R>L | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000043228 rs45507199 CA022224 VAR_009454 |
1743 | R>P | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis syndrome TSC2; Abolishes GAP activity [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
COSM1577252 VAR_008031 RCV002336163 rs45507199 RCV000043227 CA022218 RCV000190035 RCV000201149 |
1743 | R>Q | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome central_nervous_system Tuberous sclerosis syndrome TSC2 [Ensembl, ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
RCV000042731 RCV000201065 RCV000763368 RCV000190076 CA022213 RCV000491169 rs45517412 |
1743 | R>W | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs397515001 RCV000055213 |
1744 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000723199 rs1567132207 CA394314566 RCV001054960 |
1744 | L>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_009455 RCV000043229 CA022245 rs45517413 |
1744 | L>P | Tuberous sclerosis syndrome TSC2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000042674 rs137854002 |
1745 | R>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2091147162 RCV001065329 |
1745 | R>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042675 rs137854396 |
1745 | R>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA054522 RCV001023772 COSM1678764 RCV000595657 RCV001085143 RCV000768353 COSM1678763 rs760413281 |
1745 | R>C | Tuberous sclerosis 2 Lymphangiomyomatosis large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001705542 RCV001023775 rs766093661 CA054529 RCV000689057 |
1745 | R>H | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs766093661 RCV001039120 |
1745 | R>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs137854218 RCV002255636 RCV001236689 |
1746 | H>missing | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491359 rs137854218 RCV000043162 RCV000013211 RCV000055053 RCV000483802 |
1746 | H>missing | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_009456 | 1746 | H>del | TSC2 [UniProt] | Yes | UniProt |
|
rs1555440757 RCV000552414 |
1747 | I>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555440785 CA394314713 RCV000644233 RCV002343306 |
1749 | R>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001312246 rs1193817827 RCV002341624 CA394314699 |
1749 | R>W | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000055360 RCV000055581 rs397515109 |
1750 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002513621 RCV000042625 VAR_005667 CA022293 rs45459299 |
1750 | L>F | Tuberous sclerosis 2 Tuberous sclerosis syndrome TSC2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000055518 rs397515217 CA022298 |
1750 | L>P | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001087863 COSM3402168 rs781630603 COSM3402167 RCV001770313 RCV001023801 CA054573 RCV000497304 |
1751 | R>C | Tuberous sclerosis 2 Lymphangiomyomatosis Variant assessed as Somatic; 4.656e-05 impact. Hereditary cancer-predisposing syndrome central_nervous_system [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001084515 RCV002257483 RCV000190042 RCV003153466 CA054581 rs373365980 |
1751 | R>H | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA394314761 RCV000695896 rs373365980 |
1751 | R>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000042627 rs45517414 CA022307 RCV000271618 RCV002313736 RCV001797602 |
1752 | Q>* | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000644101 rs45517414 RCV002334131 CA394314782 |
1752 | Q>E | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000221971 RCV000799356 rs749487441 CA054609 |
1753 | R>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Variant assessed as Somatic; 4.668e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs756358402 RCV000685400 CA054606 RCV002334249 |
1753 | R>W | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs397515318 RCV000589806 RCV000572414 CA054841 RCV001086420 |
1754 | I>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA054821 RCV000468026 rs762320484 RCV000190043 RCV001023818 |
1754 | I>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA394315042 RCV002334133 RCV000644184 rs761162904 |
1755 | C>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003166819 RCV001316695 rs141449031 |
1755 | C>W | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003114395 RCV000233818 rs878854118 |
1756 | E>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs755229386 RCV002336738 RCV001202480 CA054895 RCV000840146 |
1756 | E>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000373763 rs886051797 CA10643155 |
1756 | E>G | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000713943 RCV000561869 rs375075952 CA054884 RCV001083713 |
1756 | E>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs375075952 RCV000813283 CA394315058 |
1756 | E>Q | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA16614803 rs1060500967 RCV000471307 |
1757 | E>D | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16615048 rs1060500957 RCV000457700 RCV001023824 |
1757 | E>K | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000055105 rs397514925 |
1758 | A>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000569715 RCV002260649 rs1555441169 RCV001327371 CA394315130 |
1758 | A>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs45477298 RCV000042681 CA022359 |
1759 | A>D | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001223445 rs758450326 |
1759 | A>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000163645 CA022355 RCV001704171 RCV000546375 rs758450326 |
1759 | A>T | Tuberous sclerosis 2 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs45477298 RCV001513329 CA054932 RCV001023842 |
1759 | A>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001023848 CA394315180 rs1261020269 RCV001318099 |
1760 | Y>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1261020269 RCV001023847 CA394315177 RCV000704781 |
1760 | Y>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1064792923 RCV000464189 |
1761 | S>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042682 rs137854169 |
1762 | N>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000696465 rs1567133600 CA394315233 |
1762 | N>D | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001216690 rs757204634 |
1762 | N>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs781139561 RCV001216691 CA054957 |
1763 | P>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs781139561 CA16615206 RCV000466239 RCV002348291 |
1763 | P>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001797767 RCV000627448 rs1555441221 |
1764 | S>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs138831802 CA276759923 RCV000516657 RCV000529988 RCV001572599 RCV001023876 |
1764 | S>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs138831802 RCV001302166 |
1764 | S>T | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394315286 rs1060500954 RCV000690585 |
1765 | L>I | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000466249 RCV001023877 CA16615207 rs1060500954 |
1765 | L>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002343304 RCV001568107 rs748936673 CA276759930 RCV000644107 |
1766 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001532311 rs779621136 RCV000569459 CA054989 RCV000702221 |
1766 | P>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000547303 rs1051758 RCV000570898 CA054998 |
1767 | L>V | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001303092 rs562220073 |
1769 | H>Q | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567133809 RCV000695763 RCV002343490 CA394315386 |
1769 | H>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000644196 RCV000563385 CA394315380 rs1555441265 |
1769 | H>Y | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394315411 RCV001059633 rs771357054 |
1770 | P>L | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA055029 RCV001214576 rs771357054 |
1770 | P>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001545216 RCV000457441 CA055015 RCV000340010 RCV002255364 RCV002298569 rs761181064 |
1770 | P>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000609138 RCV000798867 RCV000561599 rs777006583 CA055040 |
1771 | P>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000459470 RCV001081201 RCV000564954 RCV000042630 CA022380 rs137854214 |
1771 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000644264 CA394315432 rs137854214 |
1771 | P>Q | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA394315429 RCV000811088 rs777006583 |
1771 | P>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000475486 CA16615050 rs1060500973 |
1772 | S>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs45517418 RCV000818657 CA394315477 RCV003166378 |
1773 | H>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002348739 rs1030998097 RCV001221246 |
1773 | H>N | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs45517418 VAR_008032 CA022386 RCV000043187 |
1773 | H>P | Tuberous sclerosis syndrome TSC2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA10583346 rs45517418 RCV002347870 RCV000497390 RCV000234553 |
1773 | H>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2091199193 RCV001050806 |
1774 | S>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs368083145 RCV001821554 CA055089 RCV000535476 RCV002350300 |
1774 | S>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs9209 CA022390 RCV000054870 RCV000034662 VAR_057015 RCV000118714 RCV002482951 RCV000163420 RCV001084407 |
1774 | S>T | Tuberous sclerosis 2 Polycystic kidney disease, adult type Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001207122 rs2091200200 |
1776 | A>F | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10579908 RCV001065110 RCV000213344 rs781226141 RCV002222448 |
1777 | P>A | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555441353 RCV002554839 RCV001091867 |
1777 | P>H | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555441353 CA394315604 RCV000644110 |
1777 | P>R | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA055123 RCV000698185 RCV001023931 rs781226141 |
1777 | P>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1245934608 RCV000731210 RCV002255508 RCV001080512 CA16622078 |
1778 | A>T | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA394315621 rs755900742 RCV003114667 RCV000560567 |
1778 | A>V | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1396666232 RCV001071383 |
1779 | Q>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000644420 RCV002258972 RCV000604792 rs748947919 CA055149 |
1779 | Q>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA055164 rs778395191 RCV000471005 RCV000562164 RCV000610568 |
1780 | T>I | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000548829 CA276760048 rs989487316 RCV002350301 RCV000615984 |
1780 | T>P | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000644075 rs1555441410 CA394315679 |
1781 | P>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878854119 RCV001086979 RCV000520770 CA10583347 RCV002347871 |
1781 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001042448 rs2091206453 |
1782 | A>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394315696 RCV002343495 RCV002477587 rs1405712076 RCV000696912 |
1782 | A>S | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA394315724 RCV000542105 rs1555441444 RCV003159847 |
1783 | E>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs777166275 RCV000190045 RCV002345684 RCV001084324 CA055186 |
1783 | E>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA394315713 VAR_008033 rs777166275 |
1783 | E>Q | TSC2 [UniProt] | Yes |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
rs137854420 RCV000042684 |
1784 | P>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001318703 rs1555441455 |
1785 | T>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001060195 rs1555441455 |
1785 | T>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394315746 RCV000550040 rs1555441455 |
1785 | T>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA394315777 RCV001307897 rs770117004 RCV002255643 |
1786 | P>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002345685 rs770117004 RCV000231827 RCV000286078 CA055199 RCV000190046 |
1786 | P>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000707703 RCV002343577 CA055190 rs371543182 |
1786 | P>S | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs45517419 RCV000130722 VAR_009457 RCV001770053 RCV000202756 RCV000034663 RCV000054855 RCV000122242 CA022408 |
1787 | G>S | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs367703283 CA394315850 RCV000795247 |
1788 | Y>* | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA055219 rs397515221 RCV001023976 RCV001204908 RCV001696827 |
1788 | Y>C | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs904411432 RCV002343477 RCV000693682 CA276760060 RCV001771961 |
1788 | Y>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA022414 RCV000055524 rs397515221 |
1788 | Y>F | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs904411432 CA16615053 RCV000477006 |
1788 | Y>H | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs397515221 RCV001298839 |
1788 | Y>S | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394315884 rs966695764 RCV001023979 RCV002499223 RCV001355129 RCV000688858 |
1789 | E>D | Tuberous sclerosis 2 (tsc2) Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA394315853 rs45517420 RCV001211501 |
1789 | E>K | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs45517420 RCV000043264 CA022419 |
1789 | E>Q | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001023981 rs1596464243 RCV000801490 CA394315923 |
1790 | V>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000034664 RCV001088019 rs200140994 RCV000567483 CA022424 |
1790 | V>M | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001235941 RCV002348796 rs2091211512 |
1791 | G>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM231336 rs45517421 CA022427 COSM231335 VAR_009458 RCV000043265 |
1791 | G>S | skin Tuberous sclerosis syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
CA022432 RCV001367464 RCV000043207 rs45517422 |
1792 | Q>H | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA16615208 rs201916931 RCV000457471 RCV001023993 |
1792 | Q>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP |
|
RCV000793542 CA394315966 RCV001023995 rs1473538868 |
1793 | R>G | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA394315973 rs45506695 RCV000704570 |
1793 | R>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000491612 RCV000043208 RCV000189950 rs45506695 CA022436 RCV000989442 |
1793 | R>Q | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001788415 rs1473538868 RCV001066607 CA394315971 RCV002348463 |
1793 | R>W | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA055265 RCV001064564 rs756064266 RCV002348458 |
1794 | K>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001024008 rs137854335 RCV001327849 RCV000043209 |
1794 | K>missing | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000148917 RCV001197128 rs45517423 RCV000163344 RCV000055245 CA022447 RCV000034665 RCV000054862 RCV000178483 RCV000989443 |
1795 | R>C | Tuberous sclerosis 2 Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis and lymphangiomyomatosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA394316016 rs45517423 RCV000821129 |
1795 | R>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000531557 RCV000565678 RCV000423075 rs137854288 CA055272 |
1795 | R>H | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000042631 rs137854288 CA022452 |
1795 | R>L | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA394316035 rs45455398 RCV001024013 RCV000691738 |
1796 | L>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA022457 RCV000042632 rs45455398 |
1796 | L>I | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs137854130 RCV000042693 |
1797 | I>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002345683 rs796053479 CA319402 RCV000189951 RCV000696799 |
1797 | I>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567135103 RCV000697494 |
1798 | S>missing | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2091216208 RCV002348346 RCV001039901 |
1798 | S>F | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001024027 RCV000189952 rs796053480 RCV001775094 RCV001081593 |
1799 | S>missing | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA055299 RCV000522751 RCV000644277 rs778484981 RCV001024028 |
1799 | S>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000532473 CA394316115 rs1231583517 |
1799 | S>P | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2091217625 RCV001221350 |
1800 | V>A | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2091217432 RCV001052292 |
1800 | V>M | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001194690 RCV000055168 rs397514972 |
1801 | E>missing | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16615209 RCV000465811 rs1060500918 RCV002348292 |
1801 | E>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1249406161 RCV000697404 CA394316159 RCV002343497 |
1801 | E>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1596464614 RCV001024046 CA394316182 |
1802 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs137854228 RCV000042633 |
1804 | T>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001024067 RCV001223803 CA394316267 rs982803529 |
1805 | E>D | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2091219993 RCV001232576 |
1805 | E>G | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs376017665 RCV001024065 RCV000644386 RCV001119439 CA055360 |
1805 | E>K | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs376017665 RCV001327811 |
1805 | E>Q | Tuberous sclerosis 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397515143 RCV000055408 |
1806 | F>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000467233 rs1060500910 RCV002348290 CA16615055 |
1806 | F>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA022504 RCV000034666 RCV001024070 rs200004126 RCV001081523 |
1806 | F>L | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs137854027 RCV000043302 |
1807 | V>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA022509 RCV003114223 CA394316312 RCV000042634 rs45486402 |
1807 | V>L | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen gnomAD ClinVar dbSNP |
|
RCV000043125 rs137854027 RCV002274905 RCV001064746 |
1808 | V>R | Tuberous sclerosis 2 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA394316328 RCV000694871 rs1567135442 RCV001024081 |
1808 | V>R | Tuberous sclerosis 2 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA053461 rs769400464 |
2 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1596233685 RCV001008422 |
5 | T>missing | No |
ClinVar dbSNP |
|
|
rs758239066 CA394300582 |
6 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA038912 rs761071880 |
8 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs796053515 RCV000190084 |
10 | G>* | No |
ClinVar dbSNP |
|
| TCGA novel | 11 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA049909 rs766814650 |
13 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1290177807 CA394300872 |
13 | E>G | No |
ClinGen gnomAD |
|
|
rs1263108967 CA394300893 |
14 | K>R | No |
ClinGen TOPMed |
|
|
CA394301121 rs1223300370 |
19 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 21 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394301149 rs1479698846 |
22 | G>R | No |
ClinGen gnomAD |
|
|
rs200480606 CA056465 |
28 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1596234235 RCV001009028 |
30 | S>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 34 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376280172 CA276768616 |
36 | T>M | No |
ClinGen Ensembl |
|
|
CA028582 rs745604417 |
38 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1265165657 CA394301632 |
39 | I>V | No |
ClinGen TOPMed |
|
|
rs1229322782 CA394301705 |
42 | A>T | No |
ClinGen gnomAD |
|
|
CA276768623 rs199562226 |
42 | A>V | No |
ClinGen 1000Genomes |
|
| TCGA novel | 43 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1064793853 RCV000481383 |
44 | I>missing | No |
ClinVar dbSNP |
|
|
rs1555495676 CA394303050 RCV000516796 |
47 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA394303079 rs1486839704 |
48 | L>V | No |
ClinGen gnomAD |
|
|
rs1299377997 CA394303474 |
65 | C>F | No |
ClinGen gnomAD |
|
|
rs45517094 CA394303482 |
66 | E>K | No |
ClinGen gnomAD |
|
|
CA394303526 rs767626323 |
68 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA036166 rs756020849 |
69 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1201047547 CA394303591 |
72 | K>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 80 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394305520 rs1202653675 |
83 | K>N | No |
ClinGen gnomAD |
|
|
CA394305542 rs1286917226 |
85 | V>F | No |
ClinGen TOPMed |
|
|
CA394305570 rs1369594860 |
86 | A>E | No |
ClinGen gnomAD |
|
|
rs1166291219 CA394305580 |
87 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 87 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs45485999 CA394305601 |
88 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394305625 rs1286845026 |
89 | L>F | No |
ClinGen TOPMed |
|
|
rs779310889 CA394305655 |
90 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1325855418 CA394305685 |
92 | E>K | No |
ClinGen gnomAD |
|
|
CA394305719 rs1051616 |
94 | P>S | No |
ClinGen gnomAD |
|
|
CA394305774 rs1446873736 |
97 | A>S | No |
ClinGen gnomAD |
|
|
rs1478204355 CA394305796 |
98 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA394305806 rs1175950073 |
99 | H>D | No |
ClinGen gnomAD |
|
|
rs1427511365 CA394305811 |
99 | H>P | No |
ClinGen gnomAD |
|
|
rs752498350 CA394305826 |
99 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA394305900 rs1555497043 |
103 | A>G | No |
ClinGen Ensembl |
|
|
CA319557 rs1555497046 |
106 | K>Q | No |
ClinGen Ensembl |
|
|
CA394305975 rs1403848498 |
107 | A>T | No |
ClinGen gnomAD |
|
|
RCV000713925 rs1567395826 |
110 | Q>missing | No |
ClinVar dbSNP |
|
|
rs1488640964 CA394306061 |
111 | G>V | No |
ClinGen gnomAD |
|
|
rs776080693 CA046430 |
113 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA048002 rs756263581 |
122 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs753922923 CA048186 |
124 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1397640702 CA394306724 |
125 | K>E | No |
ClinGen gnomAD |
|
|
rs1202650869 CA394306884 |
129 | D>E | No |
ClinGen gnomAD |
|
|
rs1567399451 CA394306889 |
130 | Y>H | No |
ClinGen Ensembl |
|
|
CA394306913 rs777398393 |
131 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA394306922 rs1191673224 |
132 | S>T | No |
ClinGen gnomAD |
|
|
rs770439945 CA050277 |
135 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1173061992 RCV000578711 CA394307095 |
138 | E>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1446616583 CA394307216 |
141 | E>G | No |
ClinGen TOPMed |
|
|
RCV000413504 rs1057518508 |
143 | F>missing | No |
ClinVar dbSNP |
|
|
rs997604465 CA276771537 |
146 | L>F | No |
ClinGen Ensembl |
|
|
rs766653746 CA051515 |
151 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA394308478 rs1215092245 |
154 | T>N | No |
ClinGen gnomAD |
|
|
rs1157976261 CA394308600 |
161 | A>T | Tuberous sclerosis 2 (tsc2) [Ensembl] | No |
ClinGen TOPMed |
| rs137854122 | 163 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1596270687 CA394309091 |
164 | V>L | No |
ClinGen Ensembl |
|
|
rs954041989 CA276771986 |
166 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
RCV001008232 rs1596270787 |
169 | D>missing | No |
ClinVar dbSNP |
|
|
rs983899092 CA394309244 |
171 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs772641112 CA394309270 |
172 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs747538587 CA054483 |
174 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173197942 CA394309331 |
175 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA276771996 rs867879148 |
177 | L>V | No |
ClinGen gnomAD |
|
|
CA394309399 rs1266917945 |
178 | L>P | No |
ClinGen TOPMed |
|
|
CA276771998 rs982250014 |
181 | V>A | No |
ClinGen Ensembl |
|
| TCGA novel | 182 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 185 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394309736 rs761704292 |
192 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1555498221 CA16620086 RCV000478011 |
194 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs754505860 CA055459 |
197 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs374410454 CA055793 |
208 | R>G | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1418927286 CA394310842 |
209 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 209 | T>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 217 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394312583 rs1238176703 |
230 | C>F | No |
ClinGen TOPMed |
|
|
CA394312572 rs1043187800 |
230 | C>G | No |
ClinGen TOPMed |
|
|
CA394312713 rs1287428578 |
238 | L>V | No |
ClinGen TOPMed |
|
|
CA276774780 rs888878542 |
241 | V>A | No |
ClinGen TOPMed |
|
|
CA276774781 rs1007232729 |
242 | T>N | No |
ClinGen TOPMed |
|
|
CA394312734 rs1596278522 |
242 | T>P | No |
ClinGen Ensembl |
|
|
rs796053502 CA319567 RCV000190053 |
243 | L>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA394312763 rs1308970911 |
248 | N>D | No |
ClinGen gnomAD |
|
|
rs766770734 CA276774793 |
252 | L>F | No |
ClinGen gnomAD |
|
|
rs79489854 CA276774797 |
253 | C>R | No |
ClinGen 1000Genomes |
|
| TCGA novel | 255 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs45502703 CA394312986 |
261 | R>L | No |
ClinGen gnomAD |
|
|
CA394313075 rs1188591008 |
265 | G>D | No |
ClinGen gnomAD |
|
|
CA394313082 rs1433069377 |
266 | T>A | No |
ClinGen gnomAD |
|
|
CA394313126 rs1396943042 |
268 | L>M | No |
ClinGen gnomAD |
|
|
rs1435458884 CA394313145 |
269 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 271 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394313223 rs1366677287 |
273 | I>T | No |
ClinGen gnomAD |
|
|
CA394313212 rs1357428836 |
273 | I>V | No |
ClinGen TOPMed |
|
|
rs886041922 RCV000357647 |
275 | N>missing | No |
ClinVar dbSNP |
|
|
rs1238874343 CA394313303 |
276 | M>V | No |
ClinGen gnomAD |
|
|
CA394313357 rs1216101095 |
277 | C>Y | No |
ClinGen gnomAD |
|
|
CA394313416 rs397515266 |
278 | H>L | No |
ClinGen gnomAD |
|
|
rs1192271452 CA394313546 |
282 | D>N | No |
ClinGen gnomAD |
|
|
rs1255519055 CA394313591 |
283 | R>K | Tuberous sclerosis 2 (tsc2) [Ensembl] | No |
ClinGen gnomAD |
|
rs1195702502 CA394314911 |
284 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1800748 CA394314954 |
286 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394315017 rs750060649 |
289 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000728022 rs1567415441 CA394315184 |
297 | F>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1313152125 CA394315248 |
300 | G>D | No |
ClinGen gnomAD |
|
|
rs1227227173 CA394315266 |
301 | M>I | No |
ClinGen gnomAD |
|
|
CA394315325 rs45517140 |
304 | W>L | No |
ClinGen gnomAD |
|
|
CA276775702 rs770137362 |
305 | G>E | No |
ClinGen Ensembl |
|
|
rs1215705768 CA394315352 |
306 | A>T | No |
ClinGen gnomAD |
|
|
CA394315369 rs1279645051 |
307 | H>N | No |
ClinGen gnomAD |
|
|
CA10603248 RCV000335750 rs886041758 |
310 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs775590764 CA056687 |
311 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs949801715 CA276775712 |
315 | S>A | No |
ClinGen Ensembl |
|
|
CA394315609 rs1436113596 |
316 | P>A | No |
ClinGen gnomAD |
|
|
CA394315617 rs1436113596 |
316 | P>S | No |
ClinGen gnomAD |
|
|
rs1060500970 CA394315671 |
318 | S>C | No |
ClinGen gnomAD |
|
|
RCV000517985 CA394315709 rs1555499785 |
319 | V>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA276775721 rs397515097 |
325 | Q>E | No |
ClinGen Ensembl |
|
| TCGA novel | 330 | P>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs943160153 CA276776627 |
343 | T>A | No |
ClinGen Ensembl |
|
|
rs1038700070 CA276776630 |
343 | T>I | No |
ClinGen Ensembl |
|
|
CA028030 rs768760795 |
346 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 347 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394317908 rs1394071689 |
354 | Q>L | No |
ClinGen TOPMed |
|
|
CA394317996 rs1229561585 |
358 | W>C | No |
ClinGen gnomAD |
|
| TCGA novel | 361 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1085307591 RCV000489978 |
366 | E>missing | No |
ClinVar dbSNP |
|
|
CA394318294 rs1195544121 |
369 | L>V | No |
ClinGen TOPMed |
|
|
CA394318339 rs1596298736 |
370 | Q>P | No |
ClinGen Ensembl |
|
|
CA16606925 RCV000445030 rs1057523727 |
373 | Q>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA276777357 rs567252346 |
375 | L>S | No |
ClinGen 1000Genomes |
|
|
CA028589 rs759952396 |
381 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1410290642 CA394320079 |
385 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA394320513 rs1409309186 |
394 | L>M | No |
ClinGen gnomAD |
|
|
CA028711 rs748989730 |
396 | D>E | No |
ClinGen ExAC gnomAD |
|
|
RCV000255010 rs886039736 |
398 | N>missing | No |
ClinVar dbSNP |
|
|
CA394320989 rs1567428610 |
404 | Q>R | No |
ClinGen Ensembl |
|
|
CA16042932 rs1057518321 RCV000413799 |
405 | E>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs200413643 CA028818 |
408 | F>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs528727637 CA276777476 |
410 | L>V | No |
ClinGen Ensembl |
|
|
CA028830 rs764288120 |
411 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA394321355 rs1596303733 |
413 | R>K | No |
ClinGen Ensembl |
|
|
CA276777487 rs117111015 |
416 | D>G | No |
ClinGen 1000Genomes |
|
|
rs796053484 CA276777711 |
420 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1468287623 CA394321886 |
424 | L>P | No |
ClinGen gnomAD |
|
|
rs1202399787 CA394321961 |
427 | I>F | No |
ClinGen TOPMed |
|
| TCGA novel | 428 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000480338 CA16620087 rs397515187 |
433 | S>F | Tuberous sclerosis 2 (tsc2) [Ensembl] | No |
ClinGen ClinVar Ensembl dbSNP |
|
rs1335355737 CA394322119 |
433 | S>P | No |
ClinGen gnomAD |
|
|
CA029239 rs773565620 |
434 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1289958823 CA394322147 |
434 | I>V | No |
ClinGen gnomAD |
|
|
rs766461065 CA029263 |
435 | H>Q | No |
ClinGen ExAC |
|
|
rs1489429320 CA394322204 |
436 | P>S | No |
ClinGen gnomAD |
|
|
CA394322483 rs1395923841 |
445 | L>M | No |
ClinGen gnomAD |
|
|
rs1259157214 CA394322528 |
446 | Q>R | No |
ClinGen TOPMed |
|
|
CA394322559 rs45486591 |
447 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394323727 rs45494392 |
462 | R>P | No |
ClinGen Ensembl |
|
|
rs1596307300 RCV001008521 |
463 | I>missing | No |
ClinVar dbSNP |
|
|
rs1321215329 CA394323963 |
473 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 475 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA276778145 rs1053335716 |
481 | E>K | No |
ClinGen Ensembl |
|
|
rs1308965961 CA394325398 |
482 | E>K | No |
ClinGen gnomAD |
|
|
CA276778686 rs768511587 |
483 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs397515297 CA276778679 |
483 | E>K | Tuberous sclerosis 2 (tsc2) [Ensembl] | No |
ClinGen 1000Genomes |
|
rs774265657 CA030616 |
485 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs760205499 CA030675 |
488 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA030695 rs766013867 |
489 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA394325652 rs766013867 |
489 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1211121251 CA394325904 |
496 | I>V | No |
ClinGen TOPMed |
|
|
CA030915 rs749434353 |
499 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs1311884925 CA394326082 |
502 | H>R | No |
ClinGen TOPMed |
|
|
rs768707639 CA030954 |
504 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1336558090 CA394326245 |
508 | A>V | No |
ClinGen gnomAD |
|
|
CA276778733 rs1042656602 |
509 | T>A | No |
ClinGen TOPMed |
|
|
rs1360209954 CA394326280 |
510 | Q>H | No |
ClinGen gnomAD |
|
|
rs796053503 RCV000190057 |
512 | L>missing | No |
ClinVar dbSNP |
|
|
CA394326356 rs1596312224 |
513 | V>G | No |
ClinGen Ensembl |
|
| rs397515272 | 516 | A>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394326471 rs1156554876 |
519 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
CA031056 rs770645268 |
520 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA394326506 rs1220672669 |
520 | H>P | No |
ClinGen gnomAD |
|
| TCGA novel | 526 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394326687 rs762173463 |
527 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA394326718 rs1567438280 RCV000722474 |
529 | D>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV001310308 rs2087224465 |
540 | S>missing | No |
ClinVar dbSNP |
|
|
rs765448103 CA031778 |
540 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs752953762 CA031807 |
541 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748938385 CA031935 |
548 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 551 | A>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA031957 rs149877669 |
551 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs777121421 CA032036 |
552 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 555 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751618728 CA032166 |
557 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs147072281 CA032314 |
564 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA033116 rs748396290 |
573 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA033099 rs748396290 |
573 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs2088115626 RCV001268689 |
574 | K>* | No |
ClinVar dbSNP |
|
|
RCV000993365 rs1596336046 |
575 | L>missing | No |
ClinVar dbSNP |
|
|
CA394272690 rs1204749633 |
577 | T>P | No |
ClinGen gnomAD |
|
|
rs1471786715 CA394272726 |
579 | P>L | No |
ClinGen gnomAD |
|
|
CA394272762 rs1385373190 |
582 | H>Y | No |
ClinGen gnomAD |
|
|
rs397515116 RCV001091441 |
586 | V>* | No |
ClinVar dbSNP |
|
|
rs779425782 CA394272823 |
586 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs779425782 CA033393 |
586 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA394272854 RCV000760861 rs753179817 |
587 | Y>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA394272880 rs1227923469 |
589 | M>I | No |
ClinGen gnomAD |
|
|
CA319456 RCV000189987 rs796053487 |
589 | M>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs137854229 CA394272886 |
590 | L>R | No |
ClinGen Ensembl |
|
|
rs781087045 CA033522 |
595 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA10587224 RCV000245013 rs886038350 |
597 | H>Q | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1413259742 CA394272944 |
600 | H>R | No |
ClinGen gnomAD |
|
|
CA16620089 rs367553206 RCV000483276 |
602 | Y>* | No |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
|
rs1318655892 CA394272966 |
603 | T>I | No |
ClinGen gnomAD |
|
|
CA394272962 rs876660140 |
603 | T>P | No |
ClinGen gnomAD |
|
|
rs397515296 CA394272985 |
607 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs201575136 | 614 | A>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA276737259 VAR_060584 rs1131826 |
619 | L>F | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA394273067 rs1212638240 |
620 | L>V | No |
ClinGen gnomAD |
|
|
rs776226147 CA034333 |
625 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs967430707 CA276737291 |
627 | H>Q | No |
ClinGen Ensembl |
|
|
RCV000993367 CA394273117 rs774895427 |
628 | R>P | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs575892718 CA034402 |
631 | L>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 632 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766451267 CA394273225 |
639 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1408228669 CA394273280 |
642 | P>L | No |
ClinGen gnomAD |
|
|
CA276737356 rs889366862 |
642 | P>S | No |
ClinGen TOPMed |
|
|
CA394273305 rs1319342312 |
643 | Y>S | No |
ClinGen gnomAD |
|
|
RCV000760576 CA394273366 rs745414854 |
646 | C>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs45509392 CA034632 |
647 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1204327898 CA394273400 |
648 | Y>C | No |
ClinGen gnomAD |
|
|
rs45490792 CA035004 |
649 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA035252 rs763160835 |
651 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA394273590 rs1555505954 RCV000497555 |
652 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000407802 rs764225717 CA10603361 |
653 | R>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA394273608 rs533431280 |
654 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs137854144 | 654 | G>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs533431280 CA035298 |
654 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1398495219 CA394274357 |
659 | T>S | No |
ClinGen gnomAD |
|
|
rs200923172 CA035386 |
660 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1213719461 CA394274380 |
661 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1213719461 CA394274378 |
661 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1596344279 RCV001008500 |
663 | L>missing | No |
ClinVar dbSNP |
|
|
rs781533796 CA035548 |
667 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1171806400 CA394274445 |
668 | G>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA394274465 rs397515288 |
670 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM222306 CA394274463 COSM222307 rs1338802781 |
670 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs775881847 CA394274474 |
671 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1268191908 CA394274467 |
671 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA035644 rs768864353 |
672 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394274515 rs1261337087 |
675 | A>E | No |
ClinGen TOPMed |
|
|
rs753519109 CA035835 |
676 | G>C | No |
ClinGen ExAC |
|
|
rs1178654694 CA394274535 |
677 | P>S | No |
ClinGen gnomAD |
|
|
rs1178654694 CA394274531 |
677 | P>T | No |
ClinGen gnomAD |
|
|
CA035992 rs780502079 |
681 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1432565227 CA394274575 |
682 | G>R | No |
ClinGen TOPMed |
|
|
rs1455799897 CA394274637 |
687 | S>C | No |
ClinGen TOPMed |
|
|
RCV000484634 rs1064793524 |
690 | F>missing | No |
ClinVar dbSNP |
|
|
CA394274694 rs1167258871 |
693 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
RCV001812413 rs45486196 |
696 | C>F | No |
ClinVar dbSNP |
|
|
rs1596346996 CA394274754 |
701 | S>A | No |
ClinGen Ensembl |
|
|
rs886041563 RCV000348127 |
702 | D>missing | No |
ClinVar dbSNP |
|
|
rs1555506428 RCV000516906 |
705 | V>missing | No |
ClinVar dbSNP |
|
|
rs397515068 CA394274782 |
705 | V>G | No |
ClinGen Ensembl |
|
|
rs1326276839 CA394274803 |
709 | V>G | No |
ClinGen gnomAD |
|
|
CA394274834 rs1292305111 |
715 | E>K | No |
ClinGen TOPMed |
|
|
rs1203066126 CA394274843 |
716 | S>A | No |
ClinGen gnomAD |
|
|
CA394274849 RCV000518165 rs45517214 |
717 | L>Q | Tuberous sclerosis 2 (tsc2) [Ensembl] | No |
ClinGen ClinVar Ensembl dbSNP |
|
rs768261185 CA394274869 |
721 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA394274886 rs1466225483 |
723 | I>T | No |
ClinGen gnomAD |
|
|
CA036965 rs761458933 |
724 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777308285 CA037019 |
731 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs45517216 CA394275034 |
732 | Q>E | Tuberous sclerosis 2 (tsc2) [Ensembl] | No |
ClinGen Ensembl |
|
rs1596347570 CA394275062 |
734 | C>S | No |
ClinGen Ensembl |
|
|
CA037096 rs753059579 |
735 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1485034650 CA394275119 |
737 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs774759789 CA037653 |
744 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749593050 CA394276350 |
751 | R>P | No |
ClinGen gnomAD |
|
|
CA037977 rs752603642 |
754 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1285714005 CA394276541 |
756 | G>S | No |
ClinGen gnomAD |
|
|
rs45517224 CA394276563 |
759 | R>S | No |
ClinGen TOPMed |
|
|
CA394276586 rs1464357699 |
763 | H>P | No |
ClinGen TOPMed |
|
|
CA038273 rs745359720 |
767 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA038316 rs769222659 |
767 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA394276608 rs1422055326 |
768 | P>S | No |
ClinGen gnomAD |
|
|
rs1320712673 CA394276671 |
778 | N>K | No |
ClinGen gnomAD |
|
|
CA038516 rs751172150 |
784 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1002435708 CA276740757 |
788 | M>V | No |
ClinGen Ensembl |
|
| TCGA novel | 791 | C>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555507504 RCV000522775 |
796 | L>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 799 | R>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA276740793 VAR_060585 rs1051621 |
802 | S>R | No |
ClinGen UniProt ExAC dbSNP gnomAD |
|
|
CA039069 rs760265207 |
816 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1426302691 CA394277487 |
819 | I>V | No |
ClinGen TOPMed |
|
|
rs778393863 CA039111 |
821 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs940077353 CA276740867 |
824 | P>H | No |
ClinGen TOPMed |
|
|
rs1555507612 RCV000517858 |
827 | V>missing | No |
ClinVar dbSNP |
|
|
CA394277718 rs1217395053 |
829 | K>Q | No |
ClinGen gnomAD |
|
|
RCV000190059 rs1555507623 |
831 | T>missing | No |
ClinVar dbSNP |
|
|
CA039269 rs761588986 |
835 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs139919040 CA394277882 |
837 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1271366576 CA394277939 |
842 | P>A | No |
ClinGen TOPMed |
|
|
rs1057522911 CA16606932 RCV000433607 |
843 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA394277980 rs1466275499 |
845 | E>K | No |
ClinGen gnomAD |
|
|
RCV000713921 rs1567476034 |
845 | E>missing | No |
ClinVar dbSNP |
|
|
rs764608837 CA039393 |
845 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781713438 CA039666 |
849 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1459561397 CA394278274 |
851 | A>S | No |
ClinGen TOPMed |
|
|
CA394278292 rs1596364897 |
852 | R>S | No |
ClinGen Ensembl |
|
|
rs1180511535 CA394278315 |
854 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA394278325 rs1424946987 |
855 | H>P | No |
ClinGen gnomAD |
|
|
rs1467252704 CA394278355 |
858 | R>M | No |
ClinGen gnomAD |
|
|
rs886042032 RCV000391372 |
860 | F>missing | No |
ClinVar dbSNP |
|
|
rs13337626 CA394278371 |
860 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761403998 CA040103 |
860 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA276741532 rs867003846 |
861 | A>V | No |
ClinGen Ensembl |
|
|
CA394278385 rs1276236956 |
863 | E>G | No |
ClinGen gnomAD |
|
|
CA040191 rs530940490 |
865 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1261601321 CA394278406 |
866 | A>V | No |
ClinGen gnomAD |
|
|
CA040266 rs781017398 |
869 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1261671606 CA394278443 |
872 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1055089766 CA276741561 |
877 | N>Y | No |
ClinGen TOPMed |
|
|
CA040833 rs754849580 |
884 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA394279332 rs1379507306 |
894 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 898 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394279426 rs1354917235 |
900 | C>S | No |
ClinGen gnomAD |
|
|
rs1319146226 CA394279564 |
910 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs748461293 CA041070 |
912 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs772378578 CA041080 |
913 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs137854405 CA394279780 RCV000517380 |
916 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA276742015 rs137854274 |
916 | L>V | No |
ClinGen Ensembl |
|
|
CA394279800 rs1321084658 |
918 | S>A | No |
ClinGen gnomAD |
|
|
RCV000479979 rs1555508917 |
922 | L>missing | No |
ClinVar dbSNP |
|
|
rs766039435 CA041908 |
926 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1420034406 CA394279931 |
927 | T>S | No |
ClinGen gnomAD |
|
|
rs45517270 CA042074 |
942 | E>Q | Tuberous sclerosis 2 (tsc2) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
COSM3817467 rs1447031509 COSM3817466 CA394280217 |
943 | R>K | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1236903163 CA394280235 |
944 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA394280789 rs1216438701 |
951 | R>K | No |
ClinGen gnomAD |
|
|
CA394280849 rs1303011979 |
953 | P>L | No |
ClinGen TOPMed |
|
|
rs886044172 CA10606435 RCV000404417 |
953 | P>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs769199118 CA042481 |
956 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1567490680 RCV000681682 |
957 | L>missing | No |
ClinVar dbSNP |
|
|
CA394280996 rs1005027685 |
960 | S>P | No |
ClinGen gnomAD |
|
|
rs367640434 CA042556 |
962 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
RCV000657472 rs1555509491 |
964 | K>missing | No |
ClinVar dbSNP |
|
|
CA276743953 rs961472582 |
965 | E>D | No |
ClinGen TOPMed |
|
|
rs1372107115 CA394281090 |
965 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 968 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758447107 CA042643 |
970 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
CA394281329 rs1289330733 |
974 | A>V | No |
ClinGen gnomAD |
|
|
rs745634998 CA042804 |
975 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1457125822 CA394281382 |
977 | C>R | No |
ClinGen gnomAD |
|
|
CA042940 rs761189910 |
982 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1165133936 CA394281533 |
985 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1165133936 CA394281531 |
985 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1391148381 CA394281585 |
987 | V>A | No |
ClinGen gnomAD |
|
|
rs1317631053 CA394283482 |
990 | R>S | No |
ClinGen TOPMed |
|
|
CA394283454 rs753730009 |
990 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777089012 CA276745113 |
999 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394283785 rs1306166474 |
1001 | G>R | No |
ClinGen gnomAD |
|
|
CA394284002 rs1194695685 |
1010 | Q>R | No |
ClinGen gnomAD |
|
|
CA394284033 rs1430119276 |
1011 | A>S | No |
ClinGen gnomAD |
|
|
CA394284142 rs1060500961 |
1013 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA394284167 rs1163007321 |
1014 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 1017 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA044112 rs574318440 |
1020 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1371092393 CA394284557 |
1025 | T>S | No |
ClinGen gnomAD |
|
|
rs780572757 CA044140 |
1029 | M>L | No |
ClinGen ExAC gnomAD |
|
|
RCV000429934 rs1057522974 CA16607149 |
1029 | M>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA044258 rs771092741 |
1041 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs1479870591 CA394284925 |
1041 | V>I | No |
ClinGen gnomAD |
|
|
CA394284966 rs745731000 |
1042 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774008119 CA044546 |
1046 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1567497682 CA394285169 RCV000722234 |
1046 | P>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 1051 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555510519 RCV000517463 |
1055 | G>missing | No |
ClinVar dbSNP |
|
|
rs1443030830 COSM1678760 CA394285373 COSM1678759 |
1055 | G>D | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
RCV000521882 rs753205147 CA394285499 |
1059 | T>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1555510579 RCV000521897 |
1062 | V>missing | No |
ClinVar dbSNP |
|
|
CA394285628 rs751955670 |
1065 | K>E | No |
ClinGen ExAC gnomAD |
|
|
RCV000414535 rs1057518448 |
1071 | T>missing | No |
ClinVar dbSNP |
|
|
rs749192298 CA394285899 |
1073 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA276745677 rs78956195 |
1078 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394286026 rs368095502 |
1078 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394286048 rs397515087 |
1079 | S>L | No |
ClinGen TOPMed |
|
|
CA276745684 rs397515087 |
1079 | S>W | No |
ClinGen TOPMed |
|
|
rs1596384304 RCV001008383 |
1085 | S>missing | No |
ClinVar dbSNP |
|
|
CA044988 rs767655384 |
1085 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA394286177 rs1373692856 |
1086 | G>E | No |
ClinGen Ensembl |
|
|
rs1085307762 CA394286188 RCV000490146 |
1087 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA045053 rs753860755 |
1088 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs375934693 CA045043 |
1088 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394286252 rs796053493 |
1091 | G>R | No |
ClinGen gnomAD |
|
|
CA394286323 RCV000713924 rs1555510754 |
1095 | S>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs748778477 CA045556 |
1097 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs869144637 CA276746087 |
1104 | Q>R | No |
ClinGen Ensembl |
|
|
CA045720 rs751411166 |
1107 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs779833011 CA045837 |
1121 | S>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1123 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394286785 rs1163066622 |
1130 | S>F | No |
ClinGen gnomAD |
|
|
CA046466 rs775639244 |
1131 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394288341 rs1208166840 |
1133 | G>V | No |
ClinGen gnomAD |
|
|
rs1596389437 RCV001008214 |
1135 | H>missing | No |
ClinVar dbSNP |
|
|
RCV000478220 rs1064793464 |
1135 | H>missing | No |
ClinVar dbSNP |
|
|
rs1458994584 CA394288493 |
1140 | G>S | No |
ClinGen TOPMed |
|
|
rs1596389562 RCV001008976 |
1142 | L>missing | No |
ClinVar dbSNP |
|
|
CA394288649 rs1437771620 |
1146 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA046862 rs779149155 |
1147 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA394288717 rs1280749336 |
1148 | Q>H | No |
ClinGen gnomAD |
|
|
rs1217539900 CA394288705 |
1148 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA394288732 rs1312864526 |
1149 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 1149 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000713926 rs1555511352 RCV000627463 |
1150 | L>missing | No |
ClinVar dbSNP |
|
|
RCV000493182 rs1131691419 |
1151 | G>missing | No |
ClinVar dbSNP |
|
|
rs920918144 CA276746673 |
1151 | G>A | No |
ClinGen Ensembl |
|
|
rs772215032 CA276746678 |
1152 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772215032 RCV000413038 CA046905 |
1152 | S>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1266509754 CA394288834 |
1154 | T>A | No |
ClinGen gnomAD |
|
|
rs377137483 CA046936 |
1154 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs759350468 RCV000438616 CA046994 |
1158 | P>A | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA047048 rs756681045 |
1160 | T>P | No |
ClinGen ExAC |
|
|
rs754177014 CA047068 |
1161 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA047075 rs754177014 |
1161 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA276746723 rs776579875 |
1164 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394289131 rs1265032446 |
1166 | P>S | No |
ClinGen TOPMed |
|
|
CA047219 rs768292319 |
1167 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA394289239 rs1171383859 |
1169 | A>V | No |
ClinGen TOPMed |
|
|
CA047250 rs761264878 |
1170 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1171 | A>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA047264 rs766827673 |
1173 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1403988261 CA394289356 |
1175 | V>A | No |
ClinGen gnomAD |
|
|
CA394289381 rs1417220666 |
1177 | V>M | No |
ClinGen TOPMed |
|
|
CA394289443 rs1596390538 |
1179 | E>D | No |
ClinGen Ensembl |
|
|
CA891843880 rs1567504592 RCV000713927 |
1183 | L>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA394291425 rs1348376140 |
1206 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA047874 rs397515313 |
1207 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394291863 rs1233400271 |
1214 | N>S | No |
ClinGen gnomAD |
|
|
rs1057518201 RCV000414407 |
1218 | P>missing | No |
ClinVar dbSNP |
|
|
CA048016 rs776157698 |
1222 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA394292203 rs1434962054 |
1224 | N>I | No |
ClinGen gnomAD |
|
|
rs1055582947 CA276750056 |
1231 | L>Q | No |
ClinGen Ensembl |
|
|
CA394292570 rs1596400191 |
1234 | A>V | No |
ClinGen Ensembl |
|
|
rs766501228 CA048114 |
1236 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1567510728 CA394292815 |
1242 | K>M | No |
ClinGen Ensembl |
|
|
CA16607156 rs1057520759 RCV000434569 |
1243 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs796053506 RCV000190063 |
1247 | T>missing | No |
ClinVar dbSNP |
|
|
rs796053517 RCV000190086 |
1247 | T>missing | No |
ClinVar dbSNP |
|
|
CA048243 rs745342041 |
1248 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1167903970 CA394293257 |
1256 | P>S | No |
ClinGen gnomAD |
|
|
rs201746375 CA048364 |
1257 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1060500958 CA394293324 |
1258 | A>D | No |
ClinGen TOPMed |
|
|
rs45517310 CA394293420 |
1261 | A>V | No |
ClinGen gnomAD |
|
|
rs1555512548 RCV000518384 |
1262 | K>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 1262 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA048439 rs762822990 |
1264 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs762822990 CA394293515 |
1264 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1265 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394293542 rs1424206593 |
1265 | P>L | No |
ClinGen gnomAD |
|
|
CA394293573 rs1245115663 |
1267 | P>L | No |
ClinGen TOPMed |
|
|
CA394293617 rs1464179701 |
1269 | S>C | No |
ClinGen gnomAD |
|
|
RCV000478719 rs1064794126 |
1274 | S>missing | No |
ClinVar dbSNP |
|
|
rs768500195 CA048788 |
1274 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs768500195 CA048777 |
1274 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs568015523 CA276750892 |
1278 | L>P | No |
ClinGen 1000Genomes |
|
|
rs796053518 RCV000190087 |
1281 | S>missing | No |
ClinVar dbSNP |
|
|
rs1358527360 CA394294928 |
1281 | S>P | No |
ClinGen TOPMed |
|
|
rs1596404651 CA394294946 RCV000981657 |
1282 | S>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA394295244 rs1596404879 |
1293 | W>R | No |
ClinGen Ensembl |
|
|
CA049538 rs764305647 |
1299 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs886039680 RCV000255548 CA10588597 |
1302 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1422874936 CA394296966 |
1303 | G>R | No |
ClinGen gnomAD |
|
|
rs587778735 RCV000122227 CA019678 |
1305 | P>WS | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1049538280 CA276752759 |
1309 | P>A | No |
ClinGen Ensembl |
|
|
rs1356621621 CA394297188 |
1309 | P>H | No |
ClinGen gnomAD |
|
|
rs771499212 CA049666 |
1314 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000483948 rs1064793797 CA16620099 |
1318 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA394297477 rs587778736 |
1321 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248093496 CA394297508 |
1323 | A>P | No |
ClinGen gnomAD |
|
|
CA394297507 rs1248093496 |
1323 | A>T | No |
ClinGen gnomAD |
|
|
rs778389399 CA049833 |
1328 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs747695245 CA394297682 |
1329 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA049875 rs770396146 |
1331 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1166352281 CA394297766 COSM1581879 COSM1581880 |
1332 | A>V | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1567518876 CA394297826 |
1334 | S>C | No |
ClinGen Ensembl |
|
|
rs1335768928 CA394297856 |
1335 | R>G | No |
ClinGen gnomAD |
|
|
CA394297864 rs1403658994 |
1335 | R>K | No |
ClinGen gnomAD |
|
|
CA394299199 rs1451479803 |
1341 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA050200 rs765005488 |
1342 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA394299266 rs1302353294 |
1345 | K>R | No |
ClinGen gnomAD |
|
|
rs1567520803 CA394299363 |
1354 | G>S | No |
ClinGen Ensembl |
|
|
rs759429014 CA050353 |
1359 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs560831385 CA276753241 |
1361 | R>G | Tuberous sclerosis 2 (tsc2) [Ensembl] | No |
ClinGen Ensembl |
|
rs1245757559 CA394299464 |
1364 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs756957699 CA050416 |
1364 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394299462 rs1245757559 |
1364 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
RCV000482478 rs1064793573 |
1367 | G>missing | No |
ClinVar dbSNP |
|
|
CA394299476 rs1267329460 |
1367 | G>S | No |
ClinGen TOPMed |
|
|
CA394299506 rs1177344207 |
1370 | P>H | No |
ClinGen gnomAD |
|
|
rs1177344207 CA394299509 |
1370 | P>L | No |
ClinGen gnomAD |
|
|
rs1463203351 CA394299515 |
1371 | S>P | No |
ClinGen gnomAD |
|
|
CA394299541 rs1596416094 |
1373 | D>A | No |
ClinGen Ensembl |
|
|
rs1401511520 CA394299563 |
1375 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 1383 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555514063 RCV000498716 |
1384 | K>missing | No |
ClinVar dbSNP |
|
|
rs762859177 CA050553 |
1385 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1555514034 CA658798479 |
1388 | S>R | Tuberous sclerosis 2 (tsc2) [Ensembl] | No |
ClinGen Ensembl |
|
rs764039393 CA050562 |
1388 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1057520843 CA16607165 RCV000426687 |
1389 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs397515033 CA050582 |
1390 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs755583869 CA050608 |
1393 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394299866 rs1171626968 |
1400 | D>G | No |
ClinGen gnomAD |
|
|
rs1449406964 CA394299900 |
1402 | G>E | No |
ClinGen gnomAD |
|
|
CA394299913 rs1288307487 |
1403 | D>N | No |
ClinGen gnomAD |
|
|
CA394299938 rs1359988294 |
1403 | D>V | No |
ClinGen gnomAD |
|
|
CA394299947 rs1384101814 |
1404 | K>E | No |
ClinGen gnomAD |
|
|
rs1279133289 CA394299996 |
1405 | A>V | No |
ClinGen gnomAD |
|
|
RCV000518510 rs1555514179 |
1407 | V>missing | No |
ClinVar dbSNP |
|
|
rs1480313663 CA394300282 |
1412 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA394300432 rs774338461 |
1417 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs958425160 CA276753377 |
1418 | S>A | No |
ClinGen Ensembl |
|
|
rs369164761 CA050710 |
1418 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760230300 CA276753382 |
1422 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394300637 rs1484475537 |
1423 | L>V | No |
ClinGen TOPMed |
|
|
CA394300706 rs371541319 |
1424 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394300649 rs1216613310 |
1424 | D>N | No |
ClinGen gnomAD |
|
|
rs886041573 RCV000327440 |
1426 | E>missing | No |
ClinVar dbSNP |
|
| rs137854113 | 1427 | S>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA050790 rs756286233 |
1432 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA394301082 rs45517335 |
1433 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394301246 rs1440449585 |
1437 | S>G | No |
ClinGen TOPMed |
|
|
rs45448791 CA394301286 |
1438 | R>P | Tuberous sclerosis 2 (tsc2) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1313797378 CA394301289 |
1439 | G>S | No |
ClinGen gnomAD |
|
|
rs1231519628 CA394301372 |
1443 | G>S | No |
ClinGen gnomAD |
|
|
rs1218154295 CA394301490 |
1447 | S>Y | No |
ClinGen TOPMed |
|
|
CA050888 rs776137955 |
1448 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1353886265 CA394301528 |
1449 | S>A | No |
ClinGen TOPMed |
|
|
CA394301540 COSM434859 COSM434860 rs759004251 |
1449 | S>C | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs759004251 CA394301536 |
1449 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376381196 CA050914 |
1450 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394301601 rs45517339 |
1452 | S>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394301636 rs748182471 |
1453 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA050977 rs748182471 |
1453 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777669350 CA050998 |
1456 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA394301736 rs1199848222 |
1456 | L>V | No |
ClinGen gnomAD |
|
|
rs1567524236 RCV000713936 |
1457 | R>missing | No |
ClinVar dbSNP |
|
|
rs1238109196 CA394301824 |
1460 | G>C | No |
ClinGen gnomAD |
|
|
rs1217359412 CA394301989 |
1468 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1470 | R>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000177762 rs794727573 |
1472 | G>missing | No |
ClinVar dbSNP |
|
|
rs754169255 CA051097 |
1474 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA051137 rs777529733 |
1479 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA051205 rs748698490 |
1484 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA394302410 rs1403933873 |
1484 | A>V | No |
ClinGen gnomAD |
|
|
rs765503512 CA051268 |
1492 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1498 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA051488 rs781736405 |
1507 | S>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1508 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763126313 CA051524 |
1510 | F>L | No |
ClinGen ExAC |
|
|
CA394302943 COSM1579113 RCV000760705 rs74363455 CA051555 COSM1579114 |
1514 | S>* | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC dbSNP |
|
rs750305092 CA051552 |
1514 | S>T | No |
ClinGen ExAC |
|
|
rs886041789 RCV000289342 |
1515 | N>missing | No |
ClinVar dbSNP |
|
|
CA051560 rs766124907 |
1515 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs753641948 CA051571 |
1515 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs886041643 RCV000394053 |
1516 | K>missing | No |
ClinVar dbSNP |
|
|
rs777406873 CA051604 |
1523 | E>G | No |
ClinGen ExAC gnomAD |
|
|
COSM3817474 CA394304310 COSM3817473 rs1441428144 |
1524 | S>L | Tuberous sclerosis 2 (tsc2) Variant assessed as Somatic; 0.0 impact. breast [Ensembl, NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs45517352 CA051854 |
1525 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA051877 rs769834772 |
1529 | R>P | Tuberous sclerosis 2 (tsc2) [Ensembl] | No |
ClinGen ExAC gnomAD |
|
CA051890 rs762797016 |
1531 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs375520841 CA051912 |
1534 | L>F | No |
ClinGen ESP ExAC gnomAD |
|
|
RCV001311419 rs45517353 |
1535 | D>H | No |
ClinVar dbSNP |
|
|
rs749875773 CA051927 CA394304686 |
1536 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1537 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1419056951 CA394304815 |
1541 | D>G | No |
ClinGen TOPMed |
|
|
rs751873212 CA051970 |
1543 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs397514942 CA052018 |
1552 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1561 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs533515579 CA052310 |
1563 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA052299 rs564427298 |
1563 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1448001502 CA394307249 |
1566 | H>R | No |
ClinGen TOPMed |
|
|
rs1567532805 CA394307417 |
1572 | T>A | No |
ClinGen Ensembl |
|
|
RCV001288898 rs45517367 |
1578 | L>R | No |
ClinVar dbSNP |
|
|
rs780758839 CA052417 |
1585 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1589 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373635516 CA394307868 |
1589 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1422918764 CA394307902 |
1591 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 1593 | Y>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1597 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1567533467 | 1600 | C>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA052491 rs771289256 |
1604 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1001010265 CA276756445 |
1605 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA394308108 rs1233744012 |
1609 | C>F | No |
ClinGen gnomAD |
|
|
CA052706 rs752798361 |
1615 | M>L | No |
ClinGen ExAC gnomAD |
|
| rs556045045 | 1617 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394308229 rs1596442962 |
1618 | V>A | No |
ClinGen Ensembl |
|
|
RCV000478228 CA16620101 rs397515177 |
1620 | H>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 1621 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769913589 CA394308274 |
1622 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394308289 rs397515220 |
1623 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA394308312 rs1456354354 |
1625 | M>I | No |
ClinGen gnomAD |
|
|
CA053013 rs774386413 |
1625 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs774386413 CA053002 |
1625 | M>V | No |
ClinGen ExAC gnomAD |
|
|
RCV000479318 rs1064793646 |
1628 | K>missing | No |
ClinVar dbSNP |
|
|
COSM138989 CA394308355 COSM138990 rs1295162020 |
1629 | D>N | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA394308379 rs1281504795 |
1630 | V>G | No |
ClinGen TOPMed |
|
|
rs1596443319 CA919640157 |
1631 | D>E | No |
ClinGen Ensembl |
|
|
rs764887737 CA053059 |
1636 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA053082 rs137854153 COSM1230656 COSM1230657 |
1639 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA394308565 rs1343423120 |
1641 | L>V | No |
ClinGen TOPMed |
|
|
rs1555438624 RCV000518136 |
1647 | S>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 1651 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394308905 rs1376515823 |
1652 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA394308939 rs771911660 |
1654 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA053150 rs773255614 |
1656 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs45511393 CA394309133 |
1658 | K>N | No |
ClinGen gnomAD |
|
|
rs770797937 CA053173 |
1660 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA053177 rs776541842 |
1661 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA394310943 rs747018176 |
1665 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs747018176 CA053440 |
1665 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1670 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs397515067 CA394311227 RCV000517335 |
1673 | V>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs201707249 RCV000034661 CA021545 |
1676 | L>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1555439753 RCV000518230 |
1678 | Y>missing | No |
ClinVar dbSNP |
|
|
CA394311337 rs1490489610 |
1678 | Y>C | No |
ClinGen Ensembl |
|
|
CA394311332 rs1463448328 |
1678 | Y>H | No |
ClinGen gnomAD |
|
|
rs370404391 CA394311355 |
1679 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394311441 RCV000722503 rs1567128450 |
1681 | N>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA394311528 rs1596455392 |
1683 | V>L | No |
ClinGen Ensembl |
|
|
rs45517387 CA394311558 |
1684 | S>A | No |
ClinGen Ensembl |
|
|
CA053623 rs45517388 |
1686 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA276758642 rs184892282 |
1687 | C>R | No |
ClinGen Ensembl |
|
| TCGA novel | 1690 | D>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA276758823 rs984930044 |
1692 | E>G | No |
ClinGen Ensembl |
|
|
rs1555440022 RCV000516774 |
1693 | G>missing | No |
ClinVar dbSNP |
|
|
CA394312000 rs1188751089 |
1694 | L>P | No |
ClinGen gnomAD |
|
|
rs760781650 CA394311988 |
1694 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1420526276 CA394312039 |
1695 | V>A | No |
ClinGen TOPMed |
|
|
CA394312048 rs1555440048 |
1696 | D>H | No |
ClinGen Ensembl |
|
|
CA276758837 rs777223264 |
1697 | T>I | No |
ClinGen Ensembl |
|
|
rs1267700080 CA394312133 |
1698 | S>N | No |
ClinGen gnomAD |
|
|
CA394312112 rs1397179937 |
1698 | S>R | No |
ClinGen gnomAD |
|
|
rs768476974 CA276758891 |
1701 | K>N | No |
ClinGen Ensembl |
|
| TCGA novel | 1702 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs45474691 CA053976 |
1704 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772439098 CA394312371 |
1707 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000483888 rs1064795156 |
1713 | R>missing | No |
ClinVar dbSNP |
|
|
CA054063 rs45517397 |
1716 | A>S | No |
ClinGen ExAC |
|
|
rs370338085 CA394312651 |
1718 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA319544 RCV000190041 rs796053500 |
1720 | N>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1555440437 RCV000627659 |
1724 | Q>missing | No |
ClinVar dbSNP |
|
|
rs45472701 CA394313908 |
1724 | Q>K | Tuberous sclerosis 2 (tsc2) [Ensembl] | No |
ClinGen TOPMed |
|
CA394314029 rs761618860 |
1726 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394314084 rs1356709250 |
1727 | H>D | No |
ClinGen gnomAD |
|
|
rs397514955 CA394314115 |
1728 | S>R | No |
ClinGen gnomAD |
|
|
rs760395277 CA394314128 |
1729 | R>L | No |
ClinGen ExAC TOPMed |
|
|
CA276759337 rs760395277 |
1729 | R>P | No |
ClinGen ExAC TOPMed |
|
|
rs766040643 CA394314166 |
1731 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA394314204 rs1446388626 |
1732 | P>L | No |
ClinGen gnomAD |
|
|
rs759007975 CA054379 |
1732 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs759007975 CA394314187 |
1732 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA394314244 rs1190875881 |
1733 | T>S | No |
ClinGen gnomAD |
|
|
CA394314257 rs751990617 |
1734 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs886041940 RCV000271257 |
1735 | I>missing | No |
ClinVar dbSNP |
|
|
rs746160626 CA394314314 |
1736 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs746160626 CA054421 |
1736 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA394314327 rs780112037 |
1737 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394314530 rs1369101862 |
1742 | A>V | No |
ClinGen gnomAD |
|
|
CA054538 rs753424501 |
1748 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA394314819 rs749487441 |
1753 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394314815 rs749487441 |
1753 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000190064 rs796053507 |
1755 | C>missing | No |
ClinVar dbSNP |
|
|
CA054855 rs761162904 |
1755 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA054906 rs547597044 |
1758 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394315285 rs769507440 |
1764 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs748936673 CA054992 |
1766 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA276759934 rs1051758 |
1767 | L>M | No |
ClinGen ExAC gnomAD |
|
|
RCV001000768 CA394315363 rs1171556696 |
1768 | V>E | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA276759978 rs1030998097 |
1773 | H>Y | No |
ClinGen Ensembl |
|
|
rs751622894 CA055113 |
1774 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA394315526 rs1239821498 |
1775 | K>* | No |
ClinGen Ensembl |
|
|
rs1260718488 CA394315567 |
1776 | A>G | No |
ClinGen gnomAD |
|
|
rs1260718488 CA394315581 |
1776 | A>V | No |
ClinGen gnomAD |
|
|
CA055137 rs755900742 |
1778 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA394315634 rs1396666232 |
1779 | Q>* | No |
ClinGen gnomAD |
|
|
CA055156 rs768237144 |
1779 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1405712076 CA394315690 |
1782 | A>T | No |
ClinGen TOPMed |
|
|
CA394315737 rs1327577470 |
1784 | P>S | No |
ClinGen gnomAD |
|
|
CA394315765 rs371543182 |
1786 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA394316042 rs1371561573 |
1796 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs571792728 CA055292 |
1797 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1085307666 RCV000489676 |
1798 | S>missing | No |
ClinVar dbSNP |
|
|
CA394316118 rs778484981 |
1799 | S>* | No |
ClinGen ExAC gnomAD |
|
| rs796053480 | 1799 | S>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372918437 CA276760163 |
1804 | T>P | No |
ClinGen ESP TOPMed |
|
|
CA394316257 rs376017665 |
1805 | E>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394316316 rs45486402 |
1807 | V>M | No |
ClinGen gnomAD |
3 associated diseases with P49815
[MIM: 613254]: Tuberous sclerosis 2 (TSC2)
An autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes. {ECO:0000269|PubMed:10069705, ECO:0000269|PubMed:10205261, ECO:0000269|PubMed:10533067, ECO:0000269|PubMed:10570911, ECO:0000269|PubMed:10607950, ECO:0000269|PubMed:10732801, ECO:0000269|PubMed:10735580, ECO:0000269|PubMed:12271141, ECO:0000269|PubMed:15024740, ECO:0000269|PubMed:15340059, ECO:0000269|PubMed:15595939, ECO:0000269|PubMed:15963462, ECO:0000269|PubMed:8824881, ECO:0000269|PubMed:9302281, ECO:0000269|PubMed:9463313, ECO:0000269|PubMed:9829910}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 606690]: Lymphangioleiomyomatosis (LAM)
Progressive and often fatal lung disease characterized by a diffuse proliferation of abnormal smooth muscle cells in the lungs. It affects almost exclusively young women and can occur as an isolated disorder or in association with tuberous sclerosis complex. {ECO:0000269|PubMed:10823953, ECO:0000269|PubMed:11829138}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 607341]: Focal cortical dysplasia 2 (FCORD2)
A form of focal cortical dysplasia, a malformation of cortical development that results in medically refractory epilepsy in the pediatric population and in adults. FCORD2 is a severe form, with onset usually in childhood, characterized by disrupted cortical lamination and specific cytological abnormalities. It is classified in 2 subtypes
Without disease ID
- An autosomal dominant multi-system disorder that affects especially the brain, kidneys, heart, and skin. It is characterized by hamartomas (benign overgrowths predominantly of a cell or tissue type that occurs normally in the organ) and hamartias (developmental abnormalities of tissue combination). Clinical manifestations include epilepsy, learning difficulties, behavioral problems, and skin lesions. Seizures can be intractable and premature death can occur from a variety of disease-associated causes. {ECO:0000269|PubMed:10069705, ECO:0000269|PubMed:10205261, ECO:0000269|PubMed:10533067, ECO:0000269|PubMed:10570911, ECO:0000269|PubMed:10607950, ECO:0000269|PubMed:10732801, ECO:0000269|PubMed:10735580, ECO:0000269|PubMed:12271141, ECO:0000269|PubMed:15024740, ECO:0000269|PubMed:15340059, ECO:0000269|PubMed:15595939, ECO:0000269|PubMed:15963462, ECO:0000269|PubMed:8824881, ECO:0000269|PubMed:9302281, ECO:0000269|PubMed:9463313, ECO:0000269|PubMed:9829910}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Progressive and often fatal lung disease characterized by a diffuse proliferation of abnormal smooth muscle cells in the lungs. It affects almost exclusively young women and can occur as an isolated disorder or in association with tuberous sclerosis complex. {ECO:0000269|PubMed:10823953, ECO:0000269|PubMed:11829138}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of focal cortical dysplasia, a malformation of cortical development that results in medically refractory epilepsy in the pediatric population and in adults. FCORD2 is a severe form, with onset usually in childhood, characterized by disrupted cortical lamination and specific cytological abnormalities. It is classified in 2 subtypes
Functions
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| postsynaptic density | An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components. |
| TSC1-TSC2 complex | A protein complex consisting of at least tumerin and hamartin; its formation may regulate hamartin homomultimer formation. The complex acts as a GTPase activating protein (GAP) for the small GTPase (Rheb), and inhibits the TOR signaling pathway. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
| Hsp90 protein binding | Binding to Hsp90 proteins, any of a group of heat shock proteins around 90kDa in size. |
| phosphatase binding | Binding to a phosphatase. |
| protein homodimerization activity | Binding to an identical protein to form a homodimer. |
| small GTPase binding | Binding to a small monomeric GTPase. |
24 GO annotations of biological process
| Name | Definition |
|---|---|
| anoikis | Apoptosis triggered by inadequate or inappropriate adherence to substrate e.g. after disruption of the interactions between normal epithelial cells and the extracellular matrix. |
| endocytosis | A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle. |
| heart development | The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood. |
| insulin-like growth factor receptor signaling pathway | The series of molecular signals initiated by a ligand binding to an insulin-like growth factor receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| negative regulation of insulin receptor signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of insulin receptor signaling. |
| negative regulation of mitophagy | Any process that stops, prevents or reduces the frequency, rate or extent of mitophagy. |
| negative regulation of phosphatidylinositol 3-kinase signaling | Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the phosphatidylinositol 3-kinase cascade. |
| negative regulation of protein kinase activity | Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase activity. |
| negative regulation of protein kinase B signaling | Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B. |
| negative regulation of TOR signaling | Any process that stops, prevents, or reduces the frequency, rate or extent of TOR signaling. |
| negative regulation of Wnt signaling pathway | Any process that stops, prevents, or reduces the frequency, rate or extent of the Wnt signaling pathway. |
| neural tube closure | The last step in the formation of the neural tube, where the paired neural folds are brought together and fuse at the dorsal midline. |
| positive chemotaxis | The directed movement of a motile cell or organism towards a higher concentration of a chemical. |
| positive regulation of GTPase activity | Any process that activates or increases the activity of a GTPase. |
| positive regulation of macroautophagy | Any process, such as recognition of nutrient depletion, that activates or increases the rate of macroautophagy to bring cytosolic macromolecules to the vacuole/lysosome for degradation. |
| protein import into nucleus | The directed movement of a protein from the cytoplasm to the nucleus. |
| protein kinase B signaling | A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase B (also called AKT), which occurs as a result of a single trigger reaction or compound. |
| protein localization | Any process in which a protein is transported to, or maintained in, a specific location. |
| regulation of cell cycle | Any process that modulates the rate or extent of progression through the cell cycle. |
| regulation of endocytosis | Any process that modulates the frequency, rate or extent of endocytosis. |
| regulation of insulin receptor signaling pathway | Any process that modulates the frequency, rate or extent of insulin receptor signaling. |
| regulation of small GTPase mediated signal transduction | Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction. |
| vesicle-mediated transport | A cellular transport process in which transported substances are moved in membrane-bounded vesicles; transported substances are enclosed in the vesicle lumen or located in the vesicle membrane. The process begins with a step that directs a substance to the forming vesicle, and includes vesicle budding and coating. Vesicles are then targeted to, and fuse with, an acceptor membrane. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q6GYQ0 | RALGAPA1 | Ral GTPase-activating protein subunit alpha-1 | Homo sapiens (Human) | PR |
| Q6GYP7 | Ralgapa1 | Ral GTPase-activating protein subunit alpha-1 | Mus musculus (Mouse) | PR |
| Q61037 | Tsc2 | Tuberin | Mus musculus (Mouse) | PR |
| P49816 | Tsc2 | Tuberin | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAKPTSKDSG | LKEKFKILLG | LGTPRPNPRS | AEGKQTEFII | TAEILRELSM | ECGLNNRIRM |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IGQICEVAKT | KKFEEHAVEA | LWKAVADLLQ | PERPLEARHA | VLALLKAIVQ | GQGERLGVLR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ALFFKVIKDY | PSNEDLHERL | EVFKALTDNG | RHITYLEEEL | ADFVLQWMDV | GLSSEFLLVL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VNLVKFNSCY | LDEYIARMVQ | MICLLCVRTA | SSVDIEVSLQ | VLDAVVCYNC | LPAESLPLFI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VTLCRTINVK | ELCEPCWKLM | RNLLGTHLGH | SAIYNMCHLM | EDRAYMEDAP | LLRGAVFFVG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| MALWGAHRLY | SLRNSPTSVL | PSFYQAMACP | NEVVSYEIVL | SITRLIKKYR | KELQVVAWDI |
| 370 | 380 | 390 | 400 | 410 | 420 |
| LLNIIERLLQ | QLQTLDSPEL | RTIVHDLLTT | VEELCDQNEF | HGSQERYFEL | VERCADQRPE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SSLLNLISYR | AQSIHPAKDG | WIQNLQALME | RFFRSESRGA | VRIKVLDVLS | FVLLINRQFY |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EEELINSVVI | SQLSHIPEDK | DHQVRKLATQ | LLVDLAEGCH | THHFNSLLDI | IEKVMARSLS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PPPELEERDV | AAYSASLEDV | KTAVLGLLVI | LQTKLYTLPA | SHATRVYEML | VSHIQLHYKH |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SYTLPIASSI | RLQAFDFLLL | LRADSLHRLG | LPNKDGVVRF | SPYCVCDYME | PERGSEKKTS |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GPLSPPTGPP | GPAPAGPAVR | LGSVPYSLLF | RVLLQCLKQE | SDWKVLKLVL | GRLPESLRYK |
| 730 | 740 | 750 | 760 | 770 | 780 |
| VLIFTSPCSV | DQLCSALCSM | LSGPKTLERL | RGAPEGFSRT | DLHLAVVPVL | TALISYHNYL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| DKTKQREMVY | CLEQGLIHRC | ASQCVVALSI | CSVEMPDIII | KALPVLVVKL | THISATASMA |
| 850 | 860 | 870 | 880 | 890 | 900 |
| VPLLEFLSTL | ARLPHLYRNF | AAEQYASVFA | ISLPYTNPSK | FNQYIVCLAH | HVIAMWFIRC |
| 910 | 920 | 930 | 940 | 950 | 960 |
| RLPFRKDFVP | FITKGLRSNV | LLSFDDTPEK | DSFRARSTSL | NERPKSLRIA | RPPKQGLNNS |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| PPVKEFKESS | AAEAFRCRSI | SVSEHVVRSR | IQTSLTSASL | GSADENSVAQ | ADDSLKNLHL |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| ELTETCLDMM | ARYVFSNFTA | VPKRSPVGEF | LLAGGRTKTW | LVGNKLVTVT | TSVGTGTRSL |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| LGLDSGELQS | GPESSSSPGV | HVRQTKEAPA | KLESQAGQQV | SRGARDRVRS | MSGGHGLRVG |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| ALDVPASQFL | GSATSPGPRT | APAAKPEKAS | AGTRVPVQEK | TNLAAYVPLL | TQGWAEILVR |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| RPTGNTSWLM | SLENPLSPFS | SDINNMPLQE | LSNALMAAER | FKEHRDTALY | KSLSVPAAST |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| AKPPPLPRSN | TVASFSSLYQ | SSCQGQLHRS | VSWADSAVVM | EEGSPGEVPV | LVEPPGLEDV |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| EAALGMDRRT | DAYSRSSSVS | SQEEKSLHAE | ELVGRGIPIE | RVVSSEGGRP | SVDLSFQPSQ |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| PLSKSSSSPE | LQTLQDILGD | PGDKADVGRL | SPEVKARSQS | GTLDGESAAW | SASGEDSRGQ |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| PEGPLPSSSP | RSPSGLRPRG | YTISDSAPSR | RGKRVERDAL | KSRATASNAE | KVPGINPSFV |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| FLQLYHSPFF | GDESNKPILL | PNESQSFERS | VQLLDQIPSY | DTHKIAVLYV | GEGQSNSELA |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| ILSNEHGSYR | YTEFLTGLGR | LIELKDCQPD | KVYLGGLDVC | GEDGQFTYCW | HDDIMQAVFH |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| IATLMPTKDV | DKHRCDKKRH | LGNDFVSIVY | NDSGEDFKLG | TIKGQFNFVH | VIVTPLDYEC |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| NLVSLQCRKD | MEGLVDTSVA | KIVSDRNLPF | VARQMALHAN | MASQVHHSRS | NPTDIYPSKW |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| IARLRHIKRL | RQRICEEAAY | SNPSLPLVHP | PSHSKAPAQT | PAEPTPGYEV | GQRKRLISSV |
| EDFTEFV |