Q92574
PR
Gene name |
TSC1 (KIAA0243, TSC) |
Protein name |
Hamartin |
Names |
Tuberous sclerosis 1 protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7248 |
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
4 structures for Q92574
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4Z6Y | X-ray | 281 A | C/D/F/H | 938-993 | PDB |
| 5EJC | X-ray | 310 A | C/D/E/F | 939-992 | PDB |
| 7DL2 | EM | 440 A | C/D | 1-1164 | PDB |
| AF-Q92574-F1 | Predicted | AlphaFoldDB |
1822 variants for Q92574
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002357085 RCV001296824 CA375375467 rs1588363746 RCV002486131 |
2 | A>V | Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs753838459 RCV000807651 CA027033 |
4 | Q>* | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002257779 CA375375427 RCV000520247 RCV000694959 rs1269896419 |
8 | G>A | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA032066 rs773784532 RCV002551774 RCV001015114 RCV002479210 |
8 | G>R | Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA375375426 rs1269896419 RCV000703291 |
8 | G>V | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1554821022 RCV000539497 |
9 | E>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000642023 rs1399717425 RCV001771877 CA375375415 |
10 | L>F | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001351635 rs1399717425 |
10 | L>I | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA200902500 RCV001021393 RCV001053574 rs1041071543 |
13 | M>T | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1847036151 RCV001043251 |
15 | D>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375375386 RCV000697551 rs1554821020 RCV000561767 |
15 | D>N | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000553355 CA037571 COSM753309 rs774900322 |
16 | S>C | lung Variant assessed as Somatic; 0.0 impact. Tuberous sclerosis 1 [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs774900322 RCV000642044 CA375375375 RCV001023078 |
16 | S>F | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001089381 RCV000756827 RCV000571184 rs940292214 CA16612657 |
18 | M>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000795310 RCV002352327 rs1392596033 CA375375348 RCV001572386 |
21 | V>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA375375343 RCV000559688 rs141736779 |
22 | R>P | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA038390 RCV002377089 rs141736779 RCV000542889 |
22 | R>Q | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001526808 CA038317 RCV000573120 RCV000477710 VAR_078844 RCV001721544 rs749030456 RCV000695216 |
22 | R>W | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 1 FCORD2; somatic mutation; decreased interaction with TSC2; decreased function in negative regulation of TOR signaling [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs1847034874 RCV001234163 |
23 | D>G | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203330 RCV000042341 |
24 | D>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002495148 CA200902498 RCV003141835 rs984306144 RCV000815042 RCV002363122 |
24 | D>N | Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000642002 RCV001026391 RCV001551730 rs1230244328 CA375375324 |
25 | V>M | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1847033606 RCV001207502 |
27 | A>P | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375375307 rs1588363318 RCV000797675 |
28 | V>L | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA319269 rs796053452 RCV000189831 RCV000230335 RCV000575687 |
30 | K>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1564504869 RCV000689807 |
31 | E>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs781059342 CA039811 RCV003159830 RCV000551943 |
31 | E>D | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1847032440 RCV001209299 |
31 | E>Q | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1588363242 CA375375274 RCV001019650 |
32 | N>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003169612 RCV001340263 rs1222555421 CA375375276 |
32 | N>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1847031671 RCV002379604 RCV001067609 |
33 | L>F | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002367854 RCV000534666 CA375375262 rs980870206 |
34 | N>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002256664 RCV001052201 rs1847030850 |
36 | D>H | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA027009 rs148468036 RCV001347765 |
36 | D>V | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP |
|
RCV000041988 rs118203333 |
37 | R>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375375235 RCV000641995 RCV001771875 RCV002458064 rs1309560054 |
37 | R>C | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA027051 RCV000468501 RCV001703752 rs750441497 RCV000491924 |
37 | R>H | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA375375234 rs1309560054 RCV001017290 RCV000816480 |
37 | R>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002322096 RCV001226460 rs1846929239 |
38 | G>C | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1588359851 RCV000807843 CA375375225 |
39 | P>A | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000817725 rs770831962 CA027217 |
39 | P>R | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1588359851 RCV001239584 |
39 | P>S | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375375213 RCV000804106 CA375375215 rs1480174819 |
40 | M>I | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001010403 RCV000525235 CA027330 rs118203334 |
41 | L>F | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000054854 RCV001010401 RCV000034600 CA004496 RCV001086659 rs118203334 |
41 | L>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001043370 rs1846926218 |
42 | V>E | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203336 RCV000042006 |
44 | T>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000550137 rs1399266964 RCV002384148 CA375375194 |
44 | T>A | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001010890 CA375375195 rs1399266964 |
44 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs118203337 RCV000042007 |
45 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375375186 RCV000642007 rs1554820662 |
45 | L>S | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs118203337 RCV000042008 |
46 | V>missing | Malignant tumor of urinary bladder [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203339 RCV000042032 |
49 | Y>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397514861 RCV000641997 RCV000055003 |
49 | Y>missing | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042036 rs118203340 |
50 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002513612 RCV000042040 rs118203341 CA004957 |
50 | L>P | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs118203342 VAR_009397 CA005036 RCV000042047 RCV001011985 RCV000461171 |
51 | E>D | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 TSC1; unknown pathological significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA375375132 rs1588359592 RCV000816230 |
53 | S>N | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA005119 RCV000042055 rs118203343 RCV001852863 RCV000054965 COSM1570288 |
55 | Q>* | Malignant tumor of urinary bladder Tuberous sclerosis 1 (tsc1) urinary_tract Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar, Ensembl, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000564089 rs750512029 RCV001088285 CA029375 RCV000444035 |
56 | P>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002404457 CA375375112 RCV000558142 rs1330089369 |
56 | P>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001518037 CA029689 rs757837986 |
59 | H>L | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000042091 RCV001380989 CA005453 rs118203345 RCV002286701 |
61 | L>P | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000461024 VAR_070636 CA005458 RCV000054934 rs118203345 |
61 | L>R | Tuberous sclerosis syndrome Tuberous sclerosis 1 TSC1; unknown pathological significance; reduced expression; altered subcellular localization; reduced inhibition of TORC1 signaling [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs118203344 RCV000042087 |
62 | T>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1564503204 CA375375069 RCV000696154 |
63 | T>I | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001208919 rs1846916239 |
64 | L>* | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375375061 rs1554820635 RCV000641980 RCV003128675 |
64 | L>F | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042104 rs118203346 |
64 | L>S | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1846915941 RCV001211811 |
65 | Q>* | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA005812 rs118203347 COSM1238033 VAR_054386 RCV000042128 |
68 | H>R | Malignant tumor of urinary bladder Variant assessed as Somatic; impact. urinary_tract a bladder tumor; somatic mutation; reduced stability; does not affect interaction with TSC2 [ClinVar, NCI-TCGA, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV001346381 rs1846914861 |
69 | D>G | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876658838 CA10578832 RCV000553423 RCV000221168 |
70 | K>E | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060503219 RCV001324380 |
70 | K>N | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000569428 CA031560 rs765578482 RCV000541870 |
71 | H>Q | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs118203354 VAR_054387 RCV000042163 CA006084 |
72 | L>P | Variant assessed as Somatic; impact. Tuberous sclerosis syndrome TSC1 [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
CA319272 rs759183842 RCV000845008 |
72 | L>V | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001230095 rs1846822085 |
73 | L>* | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1846821741 RCV001339668 RCV002431948 |
74 | D>G | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042178 RCV001348924 CA006220 rs118203355 |
76 | I>N | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000855450 CA375374791 rs1588355838 |
78 | E>* | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA200902187 rs373855276 RCV000550161 |
79 | Y>C | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
RCV001063642 rs1846820628 |
79 | Y>H | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001015373 CA375374762 rs1588355807 RCV001316151 |
80 | V>M | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA006445 rs118203356 RCV000042207 |
82 | K>T | Malignant tumor of urinary bladder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA032835 RCV001319670 rs76667066 |
83 | A>P | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs1588355749 CA375374719 RCV000820865 |
83 | A>V | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002512056 rs118203357 RCV000042223 RCV001167327 RCV000234434 CA006597 RCV000163475 RCV000122183 |
84 | A>T | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs118203358 RCV000042226 |
85 | T>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001344279 rs1846818019 RCV003169659 |
86 | R>H | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000305404 CA006706 RCV000054878 rs397514776 |
87 | L>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000819765 rs1588355628 RCV001009004 |
88 | S>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203359 RCV000042231 |
88 | S>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000818903 CA375374669 rs1588355606 |
88 | S>C | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002424643 CA375374658 rs1564501791 RCV000693606 |
89 | I>T | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003163117 rs1564501798 RCV000687625 CA375374664 |
89 | I>V | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042247 RCV000201195 rs118203360 RCV001795036 |
91 | S>missing | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1588355566 RCV000807632 |
91 | S>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA006946 RCV000042248 rs118203361 |
91 | S>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002440669 rs118203361 RCV000799995 RCV002487685 CA034438 |
91 | S>L | Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001351759 rs1846814862 |
92 | L>F | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055022 RCV000042249 RCV000660329 rs118203362 |
93 | L>missing | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203363 RCV001210611 |
93 | L>P | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203363 RCV001281332 |
93 | L>Q | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203363 CA007015 RCV000042252 |
93 | L>R | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000220036 rs370243092 CA034878 RCV001041403 |
96 | V>A | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA375374564 rs1588355427 RCV001016931 |
97 | I>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001016847 CA034962 rs138541569 RCV000642054 |
97 | I>V | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1846813509 RCV001038098 |
100 | Q>* | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001018361 rs1307630727 CA375374510 RCV000538445 |
102 | S>C | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs796053453 RCV001224585 RCV000189833 CA319275 |
102 | S>P | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs796053453 RCV001047969 |
102 | S>T | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203365 CA007158 RCV001380988 RCV000042264 |
103 | W>* | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs118203364 RCV001852866 RCV000042263 CA007151 |
103 | W>* | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Tuberous sclerosis 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002325253 RCV000641956 rs1554820281 CA375374482 |
104 | K>N | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1846812083 RCV001305426 |
106 | K>R | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1846811712 RCV001343332 |
108 | S>C | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001053146 CA375374439 rs1178072536 |
108 | S>P | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000054904 rs397514795 |
109 | Q>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000823533 CA007276 RCV000054876 RCV002307386 rs397514774 |
109 | Q>* | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397514774 RCV001321249 |
109 | Q>E | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1846810976 RCV001237601 |
109 | Q>P | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1846811126 RCV001209937 |
109 | Q>R | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000793286 rs1588355332 CA375374408 |
110 | A>V | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001085615 rs748669519 RCV000828016 RCV001019978 CA036438 |
111 | P>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000642047 CA375374393 rs1554820276 RCV003162894 |
112 | L>F | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042277 rs118203367 |
113 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203366 RCV000042276 |
113 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000537301 RCV001020229 RCV000517515 rs779395169 CA036801 |
114 | P>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001760044 rs1846809072 RCV001068190 |
115 | S>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs755799702 RCV000550669 CA037162 RCV000222045 RCV000570579 CA10578831 RCV001853563 RCV001584282 |
116 | L>F | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000725839 RCV000372436 RCV000163292 RCV000122184 RCV001080106 rs199620268 RCV000055027 RCV000055005 CA007386 |
116 | L>V | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 1 Autism spectrum disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA007394 RCV000042278 RCV001068129 VAR_070637 rs118203368 |
117 | L>P | Tuberous sclerosis syndrome Tuberous sclerosis 1 TSC1; reduced expression; altered subcellular localization; reduced interaction with TSC2; reduced inhibition of TORC1 signaling [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA375374311 RCV001363375 RCV000564995 rs1554820265 |
119 | C>F | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003169034 rs1554820265 RCV000822480 CA375374314 |
119 | C>Y | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA375374305 RCV000642013 rs1554820263 |
120 | L>I | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA375374298 rs1554820262 RCV000626671 |
120 | L>P | Astrocytoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16612651 rs118203369 RCV000474214 |
121 | K>M | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA375374285 RCV001020781 RCV001231647 rs118203370 |
121 | K>N | Tuberous sclerosis 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP ClinGen Ensembl |
|
RCV000042279 rs118203369 CA007416 |
121 | K>R | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
TCGA novel RCV002456524 RCV001350514 rs1846685026 |
122 | M>V | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Tuberous sclerosis 1 [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs1588351019 CA375373750 RCV001020885 |
123 | D>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs745871522 RCV001584479 RCV002343282 RCV000642038 CA037338 |
124 | T>A | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs745871522 RCV001228945 |
124 | T>S | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203377 RCV000042287 |
125 | D>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002255275 RCV001562958 RCV000551431 CA007477 VAR_070638 rs397514843 RCV000054980 |
126 | V>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV001039880 rs1846682853 |
126 | V>R | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1444696723 RCV001349532 CA375373698 |
127 | V>A | Variant assessed as Somatic; impact. Tuberous sclerosis 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000766818 rs372215435 RCV000163960 CA007499 RCV001079421 RCV000241553 |
127 | V>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1588350850 RCV000816162 CA375373683 |
128 | V>A | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042289 rs118203378 RCV001046803 |
128 | V>missing | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_070639 | 128 | V>del | TSC1; reduced expression; reduced inhibition of TORC1 signaling [UniProt] | Yes | UniProt |
|
rs397514852 RCV000054991 |
129 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060503198 RCV000462113 CA16612789 |
129 | L>V | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000822211 rs1588350733 |
129 | L>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491000 rs1554819932 |
130 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs779340088 RCV002356698 CA037444 RCV000470585 |
130 | T>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001220081 rs1564499857 CA375373652 RCV001021433 |
131 | T>A | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001253515 rs1846680651 |
131 | T>R | Isolated focal cortical dysplasia type II [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1564499857 RCV001212717 |
131 | T>S | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203380 RCV000042290 RCV000467664 |
132 | G>missing | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000793584 rs397514784 CA200901597 |
132 | G>A | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs397514784 RCV002513715 VAR_070640 RCV000054889 CA007549 |
132 | G>D | Tuberous sclerosis syndrome Tuberous sclerosis 1 TSC1; unknown pathological significance; reduced expression; altered subcellular localization; reduced inhibition of TORC1 signaling [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA007570 RCV001214207 RCV000042291 rs118203381 |
133 | V>F | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Tuberous sclerosis 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000456358 VAR_070641 RCV000054879 RCV002371892 RCV000782214 CA007561 rs118203381 |
133 | V>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Tuberous sclerosis 1 TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001240456 rs1588350708 |
135 | V>L | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375373603 RCV001360766 RCV001021733 rs1588350708 |
135 | V>M | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001239926 rs1846678053 |
136 | L>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001040378 rs1846678617 |
138 | T>A | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1163879822 RCV001230610 RCV003166406 |
138 | T>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375373519 RCV001022032 RCV001344829 rs1588350642 |
140 | L>P | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554819915 RCV002461304 RCV000539889 RCV002330886 CA375373523 |
140 | L>V | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001314874 rs1846677371 |
141 | P>A | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001022166 RCV000354508 CA10603916 RCV001797702 rs886042190 |
142 | M>T | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002327657 RCV001302740 rs1846677025 |
142 | M>V | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1846676674 RCV001070910 |
144 | P>Q | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203383 RCV000042293 |
145 | Q>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042292 rs118203382 CA007587 |
145 | Q>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1846675803 RCV001234350 |
147 | G>A | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000552517 CA007594 RCV000042294 rs118203384 |
149 | Q>* | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Tuberous sclerosis 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000564302 RCV001308278 CA375373395 rs118203384 |
149 | Q>E | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) Tuberous sclerosis 1 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060503206 CA16612593 RCV000459825 |
150 | H>Y | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000988281 rs1588350477 |
154 | F>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000642014 rs1485129708 RCV001022780 CA375373321 |
154 | F>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000642000 RCV001570618 rs893232039 CA200901578 RCV000569391 |
156 | D>A | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV003163364 RCV001165740 rs1846673273 RCV003142091 RCV001165741 |
157 | I>V | Hereditary cancer-predisposing syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042295 rs118203385 VAR_054388 CA007618 |
158 | F>C | Malignant tumor of urinary bladder a bladder tumor; somatic mutation; reduced stability; does not affect interaction with TSC2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
VAR_070642 RCV002513716 RCV000055032 CA007609 rs118203385 |
158 | F>S | Tuberous sclerosis syndrome Tuberous sclerosis 1 found in a patient suspected of having tuberous sclerosis; unknown pathological significance; reduced expression; altered subcellular localization; reduced inhibition of TORC1 signaling [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1846672854 RCV001203495 |
159 | G>S | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002476152 RCV002341337 CA375373227 rs1554819886 RCV000541026 |
160 | R>C | Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000361865 rs749979841 CA037559 RCV001084683 RCV001023070 RCV003153524 |
160 | R>H | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001294832 rs1846672141 |
161 | L>P | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1846671628 RCV002339713 RCV001288893 |
162 | S>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060503205 CA16612499 RCV000474842 |
162 | S>P | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1588350366 RCV001023196 |
163 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM26861 rs1554819870 RCV000988280 RCV000523245 CA375373170 |
164 | W>* | large_intestine Tuberous sclerosis 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
COSM26861 RCV000042297 CA007633 RCV000189835 rs118203387 |
164 | W>* | Lymphangiomyomatosis large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA375373166 rs1554819870 RCV001071719 RCV001023282 |
164 | W>C | Tuberous sclerosis 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP ClinGen Ensembl |
|
RCV001054097 rs118203387 |
164 | W>L | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA007639 rs118203388 RCV000005408 |
165 | C>* | Lymphangiomyomatosis [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_078845 | 165 | C>del | TSC1 [UniProt] | Yes | UniProt |
|
RCV000042299 rs118203389 |
168 | K>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA200901566 rs1007335343 RCV000529494 RCV001023453 RCV001653899 |
168 | K>T | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001052688 rs1846669447 |
170 | G>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000573730 RCV001344231 CA375372931 rs751092692 |
172 | V>E | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002334264 CA200901207 RCV002510955 rs952813051 RCV000687802 |
172 | V>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001548481 RCV000571730 CA16612590 RCV000474318 rs952813051 |
172 | V>M | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000563590 CA037947 RCV000641975 rs777484049 RCV000764814 |
173 | A>V | Variant assessed as Somatic; 0.0 impact. Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA007673 COSM607855 RCV000042302 rs118203392 |
174 | E>* | lung Variant assessed as Somatic; impact. Tuberous sclerosis syndrome [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000799143 rs1588347661 CA375372905 |
174 | E>G | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA375372890 RCV001023799 RCV000546386 rs1415895533 |
175 | V>A | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002334306 RCV000693771 CA375372894 rs1564498330 |
175 | V>F | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs118203394 RCV000042304 |
176 | Y>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203393 RCV000042303 |
176 | Y>missing | Malignant tumor of urinary bladder [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002348332 rs1060503209 CA16612498 RCV001764439 RCV000475434 |
176 | Y>C | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs397514794 RCV000054903 |
177 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA007701 RCV000228124 rs118203395 RCV000724965 RCV000042305 RCV000122198 RCV000164135 RCV001165738 |
178 | V>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1846589515 RCV001298591 |
179 | H>Y | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203396 RCV000042306 VAR_070643 RCV000005412 CA007706 |
180 | L>P | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Tuberous sclerosis 1 TSC1; reduced expression; reduced inhibition of TORC1 signaling [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs397515294 CA038056 RCV001326739 RCV003169535 |
181 | H>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs397515294 RCV000055010 CA007715 RCV002273951 |
181 | H>P | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs397515294 RCV002346037 RCV000877417 CA038042 |
181 | H>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1057524690 RCV001047121 RCV001024073 COSM1701864 CA16606318 RCV000427937 |
181 | H>Y | Hereditary cancer-predisposing syndrome skin Tuberous sclerosis 1 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
RCV000641991 RCV002343281 CA375372781 rs1554819580 |
183 | S>T | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000809212 CA375372744 rs118203398 |
185 | Y>* | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1279777367 RCV002348729 RCV001218373 |
186 | A>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1279777367 RCV000558926 RCV000566027 CA375372741 |
186 | A>T | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000042309 rs118203399 |
188 | F>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000130555 rs118203400 RCV000042310 RCV000225932 CA007757 RCV001727549 RCV001703930 |
190 | R>C | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001024421 rs118203402 COSM1460752 RCV000685265 CA038150 |
190 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs118203402 RCV000442086 RCV000042311 COSM1314592 CA007774 |
190 | R>P | Variant assessed as Somatic; impact. urinary_tract Tuberous sclerosis syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs118203401 RCV000042312 |
190 | R>P | Malignant tumor of urinary bladder Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
RCV000042313 RCV001852868 CA007782 rs118203403 VAR_009399 |
191 | L>H | Tuberous sclerosis syndrome Tuberous sclerosis 1 TSC1; reduced expression; reduced inhibition of TORC1 signaling [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1846585825 RCV001068631 |
191 | L>I | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042314 rs118203403 RCV002266912 CA007790 |
191 | L>R | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs118203405 RCV000042315 |
192 | Y>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001237508 rs1846585365 |
192 | Y>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA007814 RCV000042316 rs118203406 |
192 | Y>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000165848 CA007798 rs786202831 |
192 | Y>H | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000822580 CA375372633 rs1588347278 |
194 | M>L | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs746188529 RCV001319084 |
194 | M>R | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000795922 rs746188529 CA038163 |
194 | M>T | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000042317 TCGA novel rs118203407 CA007821 |
195 | Y>* | Tuberous sclerosis syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl dbSNP NCI-TCGA |
|
RCV002517903 rs796053464 RCV000189864 |
196 | P>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397514868 RCV000055016 |
197 | C>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000054973 rs397514836 |
198 | N>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203408 RCV000042318 VAR_009400 |
198 | N>I | Tuberous sclerosis syndrome TSC1; reduced expression; altered subcellular localization; reduced interaction with TSC2; reduced inhibition of TORC1 signaling [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
RCV000229975 CA038180 rs577983115 RCV001024697 |
198 | N>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs118203409 RCV000042319 |
200 | V>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203410 RCV001222938 |
200 | V>F | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042320 RCV000687950 rs118203410 RCV002258784 CA007868 RCV000441826 RCV001169731 |
200 | V>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs118203411 RCV002514166 RCV000042321 |
201 | S>missing | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375372513 rs1564498038 RCV000705372 |
201 | S>F | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042322 rs118203412 |
201 | S>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042323 rs118203413 |
203 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000694777 rs1060505021 CA16616853 VAR_078846 RCV000477742 COSM1106333 |
204 | R>C | Tuberous sclerosis 1 (tsc1) Variant assessed as Somatic; impact. endometrium Isolated focal cortical dysplasia type II Tuberous sclerosis 1 FCORD2; somatic mutation; decreased interaction with TSC2; decreased function in negative regulation of TOR signaling [Ensembl, NCI-TCGA, Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV002356876 CA375372466 rs397514834 RCV001203672 |
204 | R>H | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
VAR_070644 rs397514834 RCV000054969 CA007898 |
204 | R>P | Tuberous sclerosis syndrome found in a patient suspected of having tuberous sclerosis; reduced expression; altered subcellular localization; reduced inhibition of TORC1 signaling [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV001232506 rs1846579352 |
206 | H>R | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397514837 RCV000054974 |
208 | S>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002366176 RCV001318506 CA038264 rs778671811 |
208 | S>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000686080 rs1264782606 CA375372410 RCV003163105 |
208 | S>T | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA038277 RCV000460091 rs754980229 RCV001025051 |
209 | M>V | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001199394 rs1846577619 |
212 | N>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491175 rs1114167620 |
213 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001039602 CA375372319 rs1483354391 |
214 | E>G | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001231197 rs1846577095 |
214 | E>K | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000993363 RCV000042327 RCV001203487 rs118203417 |
215 | T>* | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001221701 RCV000054971 rs118203417 |
216 | F>missing | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000641989 RCV000042326 CA007933 rs118203416 |
216 | F>S | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Tuberous sclerosis 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs118203418 RCV000042328 |
219 | V>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA007944 rs397514830 RCV000054963 |
220 | V>F | Malignant tumor of urinary bladder [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000042335 rs118203425 |
222 | P>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375371510 rs118203426 RCV000703163 |
224 | M>K | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001025559 RCV000641970 rs535397245 RCV002477414 CA200900992 |
224 | M>L | Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) Tuberous sclerosis 1 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
RCV000042336 rs118203426 CA008014 VAR_009401 RCV000005411 |
224 | M>R | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Tuberous sclerosis 1 TSC1; reduced expression; reduced inhibition of TORC1 signaling [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001216133 rs118203426 |
224 | M>T | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001226821 rs1846548148 |
227 | V>L | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA008021 RCV000201126 RCV000515416 RCV000189836 RCV000042337 rs118203427 |
228 | R>* | Lymphangiomyomatosis Tuberous sclerosis 1 (tsc1) Variant assessed as Somatic; impact. Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar, Ensembl, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
COSM1674922 rs1223799508 CA375371452 RCV000796501 |
228 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine Tuberous sclerosis 1 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV002360921 RCV000795456 rs1588345775 CA375371421 |
230 | H>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1322586198 RCV000762584 RCV000692073 RCV000574390 CA375371402 |
231 | P>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000042339 rs118203428 |
232 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042338 CA008043 rs118203429 RCV001852869 |
232 | E>* | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Tuberous sclerosis 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001208764 rs1846545578 |
233 | L>* | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203430 RCV000042340 |
237 | S>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000054942 CA008057 rs397514816 |
238 | K>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002258188 RCV001301461 CA038590 rs779872953 |
240 | H>Q | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000042342 rs118203431 |
241 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375371236 rs1554819388 RCV000535860 |
242 | L>P | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1846543630 RCV001253123 |
244 | P>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001346161 rs1846543788 |
244 | P>T | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042344 rs118203433 |
245 | R>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203434 COSM127002 RCV000255397 RCV000491872 RCV000042345 CA008088 RCV000201189 |
245 | R>* | upper_aerodigestive_tract Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) Variant assessed as Somatic; impact. Tuberous sclerosis syndrome Tuberous sclerosis 1 [Cosmic, ClinVar, Ensembl, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001347024 rs755859330 |
245 | R>P | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000642080 RCV001577881 CA038606 RCV002386066 rs755859330 |
245 | R>Q | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1588345595 RCV000794398 |
246 | R>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203436 RCV000821093 CA008124 RCV000042348 RCV000724695 VAR_070645 |
246 | R>K | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Tuberous sclerosis 1 TSC1; unknown pathological significance; no effect on expression; no effect on inhibition of TORC1 signaling [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs118203436 CA008130 RCV000042349 |
246 | R>T | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001052243 rs1846020610 |
247 | W>* | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA008160 rs118203442 RCV000042353 |
248 | K>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs118203444 RCV000042355 |
249 | R>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA008166 rs118203443 RCV000042354 |
249 | R>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs118203445 RCV000042358 |
249 | R>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001026473 CA375369721 rs1588327781 |
249 | R>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042359 rs118203445 |
250 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042356 CA008189 CA008193 RCV000005404 rs118203447 RCV000042357 |
250 | L>* | Tuberous sclerosis 1 Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA375369705 rs118203447 RCV000536669 |
250 | L>S | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000641998 rs1554817691 RCV003117449 CA375369695 |
251 | E>* | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA375369653 rs748775797 RCV000706432 CA375369650 |
253 | H>Q | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1846018773 RCV001061591 |
254 | D>G | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554817676 RCV000660332 |
257 | I>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203449 RCV000042360 |
257 | I>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060504854 RCV001026751 RCV001873418 CA375369600 |
257 | I>M | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs745640752 CA038850 RCV000983883 |
257 | I>N | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs118203450 RCV000042361 CA008208 RCV001797599 RCV001008650 |
258 | E>* | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs118203450 RCV002399707 CA038893 RCV000189841 RCV000376049 RCV000641992 |
258 | E>K | Hereditary cancer-predisposing syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1459280532 CA375369574 RCV001213093 |
259 | C>Y | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA375369562 RCV001026819 rs758617649 RCV000818816 |
260 | A>V | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001085260 CA038935 RCV002255322 rs371225009 RCV000232948 |
261 | K>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs371225009 RCV000563345 CA375369554 |
261 | K>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000642042 CA375369494 rs1554817662 RCV001771879 |
266 | P>L | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001069395 CA375369454 rs1347033062 |
269 | A>D | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000130030 RCV000042362 rs118203451 RCV001852870 |
270 | S>* | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878853968 RCV001027171 RCV000230751 CA10582634 |
270 | S>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000042363 RCV002287460 rs118203452 RCV002462271 RCV001042216 CA008239 |
271 | Y>* | Tuberous sclerosis 1 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP ClinGen Ensembl |
|
RCV000055020 CA008245 rs397514872 |
272 | E>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
CA039066 RCV001290132 rs397514872 |
272 | E>K | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000566627 RCV000227461 rs148756522 RCV000270939 CA039098 |
273 | D>E | Hereditary cancer-predisposing syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000642051 rs768057796 CA375369397 |
273 | D>G | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000042365 CA008254 RCV000542283 rs118203454 |
275 | Y>* | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA319283 RCV002426917 rs1554817636 RCV000800629 |
275 | Y>C | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs118203453 RCV000042364 |
276 | S>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001305621 rs1846012269 RCV002256735 |
276 | S>F | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000999260 RCV000688164 rs774009225 CA039128 |
276 | S>P | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA16612648 RCV002429539 rs200749357 RCV000459301 |
277 | V>A | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
rs1846011821 RCV001214482 |
278 | S>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042368 rs118203457 |
279 | H>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203455 RCV000042367 |
279 | H>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203458 CA008302 RCV000042369 |
280 | Q>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA008309 RCV000042370 rs118203459 |
282 | S>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001312548 rs118203459 |
282 | S>L | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042371 rs118203460 |
283 | A>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002497782 RCV001229700 rs1846010451 |
283 | A>missing | Lymphangiomyomatosis Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003153711 RCV000525964 rs1554817613 CA375369249 |
283 | A>V | Tuberous sclerosis 1 Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554817612 RCV000538529 |
284 | R>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs140544652 RCV001575957 RCV000231351 CA039166 RCV001017933 |
284 | R>C | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA008318 RCV001080486 RCV001017939 RCV000034612 rs151309813 |
284 | R>H | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000472102 CA16612492 rs140544652 |
284 | R>S | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000465974 CA008327 RCV000568811 RCV000122199 rs377076733 RCV001618239 COSM1570290 RCV000054874 |
285 | F>V | Hereditary cancer-predisposing syndrome urinary_tract Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001231380 rs1047485135 RCV002447156 CA200894798 |
286 | P>A | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001018033 RCV001591100 CA039224 RCV000475554 rs375144225 RCV003155192 |
286 | P>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001320263 RCV002412031 rs1047485135 |
286 | P>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1278022127 CA375369209 RCV001320665 |
287 | H>Y | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000565985 RCV000610190 RCV000458416 CA039240 rs770653972 |
288 | R>C | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001214807 rs770653972 |
288 | R>G | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1424366444 CA375369190 RCV001206492 |
288 | R>H | Variant assessed as Somatic; impact. Tuberous sclerosis 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000201058 RCV000055015 CA008332 rs397514867 |
289 | S>* | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Tuberous sclerosis 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA039276 RCV000706620 rs755195460 RCV002442537 |
291 | D>N | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001018271 rs1588326825 RCV001068993 CA375369143 |
292 | V>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002447050 RCV001202359 rs756681916 CA039331 |
293 | T>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA375369124 RCV001018321 rs756681916 RCV000685830 |
293 | T>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002374946 rs1588326742 RCV001059923 |
294 | T>A | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001297990 RCV002447273 rs878853969 |
294 | T>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878853969 RCV002372256 CA10582633 RCV000228613 |
294 | T>N | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1588326742 CA375369116 RCV000791540 |
294 | T>S | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001059625 RCV003160480 rs1588326679 CA375369104 |
295 | S>G | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002487737 CA375369099 rs1415705359 RCV002291701 RCV000808212 RCV002370159 |
295 | S>T | Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1588326629 RCV000813392 |
296 | P>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001206323 rs1846004910 |
296 | P>* | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1846005037 RCV001337938 |
296 | P>L | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001068118 rs750890263 CA039361 RCV002276612 |
296 | P>S | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000042372 CA008340 RCV001852871 RCV000042373 CA008344 rs118203461 RCV000054984 |
297 | Y>* | Lymphangiomyomatosis Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001299029 RCV001796430 rs1846004547 RCV002375351 |
298 | A>T | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002372157 rs796053456 RCV000189843 CA319286 RCV000642034 |
300 | T>A | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA039371 RCV000474131 rs370916731 RCV000561523 |
300 | T>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000724497 rs118203464 RCV000042375 RCV000180495 |
301 | Q>missing | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000703930 RCV000042374 CA008364 rs118203463 |
301 | Q>* | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs762200890 CA039389 RCV000701891 |
301 | Q>H | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1389512342 RCV000642046 RCV002369687 CA375369019 |
301 | Q>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV003153241 rs118203466 CA008375 RCV000042377 |
304 | Y>* | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000432455 CA008396 RCV000042380 VAR_070646 rs118203468 RCV002371859 |
305 | G>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome TSC1; unknown pathological significance; no effect on expression; no effect on inhibition of TORC1 signaling [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000042381 VAR_070647 rs118203468 CA008404 |
305 | G>W | Tuberous sclerosis syndrome TSC1; unknown pathological significance; no effect on expression; no effect on inhibition of TORC1 signaling [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001237228 RCV002447184 rs34876281 |
306 | C>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000572956 RCV000713912 rs752290177 RCV001086734 CA039723 |
306 | C>Y | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002372704 rs572611259 RCV000983929 CA039745 |
307 | A>V | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA375368745 rs1554817432 RCV000566528 RCV001372095 |
308 | T>N | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000812022 rs1588324860 CA375368731 |
310 | T>I | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000696695 CA375368729 RCV003163204 rs1332186256 |
311 | P>A | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001322882 rs776158460 |
311 | P>H | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001314219 rs776158460 |
311 | P>L | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000966584 rs776158460 RCV000221166 CA039782 |
311 | P>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001203395 CA375368730 rs1332186256 RCV001019167 |
311 | P>T | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA008432 RCV000042383 rs118203472 |
312 | Y>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001320524 rs1588324803 |
312 | Y>C | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845964220 RCV001346269 |
312 | Y>H | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001234758 rs1588324803 |
312 | Y>S | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs766317920 CA039798 RCV000706334 RCV002442534 |
313 | S>F | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1845963270 RCV001231797 |
314 | T>A | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001084392 rs373454700 RCV000726223 RCV000764813 RCV000130736 CA008439 |
314 | T>M | Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA039861 RCV000459038 rs185815387 |
315 | S>T | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs375956049 RCV001298562 |
316 | R>L | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA039900 RCV001085318 RCV002446526 rs375956049 RCV000366220 |
316 | R>Q | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs535868591 RCV001089004 RCV000189844 CA039888 RCV002257480 |
316 | R>W | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1845961614 RCV001325980 |
319 | L>V | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000781950 rs755655903 RCV000461709 RCV001696878 RCV001019502 |
320 | L>missing | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1588324615 RCV000826207 |
320 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1588324435 RCV000819397 |
322 | M>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA008456 RCV000054928 rs397514807 |
322 | M>I | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000355920 RCV000576638 rs1073123 RCV000054853 RCV000054997 COSM3763713 RCV000034613 RCV000118695 RCV001269358 RCV000162954 VAR_009402 CA008447 RCV000054992 |
322 | M>T | Malignant tumor of urinary bladder Lymphangiomyomatosis large_intestine Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 1 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002382139 COSM3763713 rs1588324568 CA915947255 RCV001451660 |
322 | M>T | large_intestine Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA375368653 rs1588324535 RCV001019621 |
323 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000201208 rs118203474 RCV000042385 RCV000255408 CA008473 |
325 | Q>* | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Tuberous sclerosis 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA375368640 rs1554817398 RCV003159831 RCV000533447 |
325 | Q>H | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1564488890 CA375368643 RCV000690061 |
325 | Q>R | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM421910 RCV000660333 rs1554817388 CA375368627 |
328 | Q>* | Variant assessed as Somatic; impact. urinary_tract Tuberous sclerosis 1 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000042386 rs118203475 |
329 | T>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000491469 RCV000042387 rs118203477 |
330 | L>missing | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203476 RCV000042388 |
330 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203479 RCV000201052 RCV000042389 |
330 | L>missing | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000687172 rs1564488810 |
330 | L>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397514870 RCV001250495 RCV000055018 |
330 | L>missing | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16612774 RCV000459425 rs1060503222 |
330 | L>M | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000414909 RCV000189866 RCV000042390 RCV000201139 RCV000491374 rs118203478 |
331 | S>missing | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1588324306 CA375368582 RCV000811337 |
331 | S>R | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042391 rs118203480 |
332 | S>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1564488773 RCV000988279 RCV000685190 |
333 | P>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16605552 RCV000419436 rs1057520994 RCV001064247 RCV002318411 |
333 | P>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA004269 RCV000041973 rs118203481 |
334 | S>* | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002490461 RCV000122200 RCV000398057 CA004276 RCV001080188 rs118203481 RCV000572872 RCV000054847 RCV000034598 |
334 | S>L | Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 1 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1845955010 RCV001245202 |
335 | T>I | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397514849 RCV000054988 |
336 | R>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_070648 CA004301 RCV000215128 RCV000465854 rs397514808 RCV000054930 |
336 | R>Q | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000562162 RCV000466068 RCV000041974 rs118203483 RCV001703924 RCV002271385 CA004282 |
336 | R>W | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000660334 rs1554817344 |
338 | I>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000700295 rs1246013552 CA375368457 |
339 | T>I | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001296630 CA026715 rs570809282 |
339 | T>S | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs118203484 RCV000041975 |
340 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375368421 RCV002442738 rs1588324106 RCV000817104 |
341 | P>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000466977 CA16612487 RCV002383826 rs1060503197 |
342 | P>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001216089 rs1845934367 |
344 | A>P | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845934367 RCV001325475 |
344 | A>S | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1564488264 RCV000768346 |
345 | T>missing | Lymphangiomyomatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203490 COSM1238034 RCV000041981 CA004349 |
347 | W>* | urinary_tract Tuberous sclerosis syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs118203491 COSM1238034 RCV001531750 CA004355 RCV002514164 RCV000041982 |
347 | W>* | Malignant tumor of urinary bladder urinary_tract Tuberous sclerosis 1 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000701952 CA375367866 RCV001009779 rs118203491 |
347 | W>C | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001339329 rs1175861603 |
347 | W>G | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000707613 RCV000815349 CA375367877 CA375367876 rs1175861603 |
347 | W>R | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA026865 rs779767990 RCV001067707 |
349 | P>A | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000642053 CA375367839 rs1554817268 |
349 | P>Q | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs779767990 RCV001045479 |
349 | P>S | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000473657 RCV001705059 RCV000575230 CA319232 rs781312535 |
351 | M>V | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002399706 CA319235 rs796053447 RCV000228527 RCV000189809 |
352 | V>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1845932297 RCV001050640 |
353 | C>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10578830 RCV000817344 RCV000217823 rs876660024 |
353 | C>Y | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA10582632 rs878853958 RCV000232012 |
355 | M>I | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001009796 rs1302832406 RCV000795024 RCV001722439 CA375367734 |
355 | M>V | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001324235 rs1845931432 RCV003166898 |
356 | T>N | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000641959 rs1554817259 |
358 | P>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201738258 RCV002422309 RCV000642012 RCV001538503 CA026993 |
360 | T>A | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000054852 RCV000404533 RCV000122185 rs118203493 RCV002504867 RCV000034599 RCV001083517 RCV000054950 RCV000163322 CA004387 |
360 | T>N | Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 1 Autism spectrum disorder [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA375367645 RCV001009859 rs201738258 RCV001226646 |
360 | T>P | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000533752 CA375367641 rs201738258 |
360 | T>S | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001295303 RCV002418885 rs118203493 |
360 | T>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002424442 RCV000641973 rs1554817252 |
362 | P>missing | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000642024 rs397514864 VAR_070649 RCV000217275 CA004402 RCV000725515 RCV000055009 |
362 | P>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Tuberous sclerosis 1 TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs876658981 RCV000220194 RCV000795834 CA10578829 |
364 | N>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000041986 RCV002251733 rs118203494 |
366 | P>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1041988929 RCV000467445 CA16612486 |
366 | P>A | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs763915012 CA027020 RCV001355439 RCV001017276 RCV000189810 RCV000225784 |
366 | P>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1412914051 RCV001017287 RCV000548696 CA375367523 |
367 | P>A | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs118203495 RCV000041987 |
368 | D>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003165601 CA10582631 RCV000228703 rs118203496 |
369 | L>M | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA319291 RCV001852520 rs796053457 RCV002433858 RCV000189845 |
370 | S>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs118203497 RCV000041990 |
371 | H>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001017361 RCV000475917 CA027069 rs771217333 |
371 | H>Q | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs118203498 RCV000041991 |
372 | P>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA027091 RCV002504308 RCV002436895 RCV001230625 rs760638759 |
372 | P>A | Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1588322764 CA915947251 RCV000824621 |
373 | Y>* | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA262148 RCV000041992 rs118203499 |
373 | Y>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA375367379 rs1564488001 RCV000704425 RCV002440530 |
374 | S>N | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003117521 rs1564487989 RCV002317534 CA375367361 |
375 | K>E | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001873295 RCV001017411 rs1588322703 CA375367340 |
376 | V>D | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003155351 RCV002445329 rs1461609607 RCV001063459 CA375367342 RCV002479373 |
376 | V>F | Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000641978 rs1554817222 |
377 | F>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375367327 RCV000537413 rs1187617751 |
377 | F>C | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV003169714 rs1845926660 RCV002246327 RCV001348938 |
377 | F>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000466821 CA16612484 rs1060503193 |
379 | T>I | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002323744 rs1060503216 CA16612770 RCV000462240 |
380 | T>A | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000641961 CA375367295 rs1064796512 |
380 | T>I | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002323841 RCV000478581 CA16618776 rs1064796512 RCV000684873 |
380 | T>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA027178 rs367564729 RCV000526191 |
382 | G>S | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs1554817166 RCV000642008 CA375367212 |
383 | G>E | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002350617 RCV001340046 rs1845907002 |
384 | K>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000189873 rs118203501 RCV000041995 |
385 | G>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001327764 rs1845906487 |
386 | T>N | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1064793844 RCV002526541 RCV000483920 |
388 | L>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA027202 RCV001083120 RCV000734481 RCV000567359 rs377598226 |
388 | L>P | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs397514832 RCV000054966 |
389 | G>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001040683 CA027210 rs752575728 |
389 | G>E | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000465751 RCV002481304 CA16605642 RCV001079535 rs201452238 RCV000576108 |
393 | T>I | Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV002327413 RCV001167268 RCV001165675 rs1845904791 |
393 | T>S | Hereditary cancer-predisposing syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845904421 RCV001350438 |
395 | P>L | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001041248 rs1845904104 |
395 | P>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001321166 rs1845904525 |
395 | P>S | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001316679 rs1845904238 TCGA novel RCV002256739 |
396 | P>S | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Tuberous sclerosis 1 [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs766487204 RCV002257943 CA027226 RCV000699455 |
397 | P>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003166896 rs918660416 RCV001324093 CA200893852 |
398 | A>V | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000041996 rs118203502 |
399 | P>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002339180 CA16612585 rs1060503211 RCV000469971 |
399 | P>A | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA375367012 RCV001010177 rs1060503211 RCV001860629 |
399 | P>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001048944 rs773160913 CA027238 |
400 | L>F | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000041997 rs118203503 |
402 | H>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001220443 rs1845902050 |
402 | H>Q | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000642033 rs118203504 CA375366947 |
403 | S>* | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001216987 rs1845901815 |
403 | S>A | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000041998 RCV000122186 RCV001082139 CA004489 RCV000514892 RCV000383299 rs118203504 RCV000163452 |
403 | S>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 1 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000642021 rs1554817130 CA375366933 RCV002358824 |
404 | D>V | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1845900843 RCV001343685 |
404 | D>Y | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs143502728 RCV002356699 RCV001764438 CA027303 RCV000464560 |
406 | Y>C | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000642035 rs1554817128 CA375366908 |
406 | Y>H | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000816308 CA375366893 rs769331772 RCV002363107 RCV000812099 CA375366891 |
407 | V>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003153710 rs769331772 RCV000840913 CA027322 RCV002316553 RCV001083325 RCV001821551 |
407 | V>M | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA375366876 RCV000540133 rs1554817122 |
408 | H>R | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001244743 rs1845899274 |
410 | S>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397514840 RCV000463047 CA16612644 |
411 | L>F | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA200893811 rs140410001 RCV000687786 |
411 | L>H | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000474632 CA004502 VAR_070650 RCV000761088 rs397514840 RCV002362687 RCV000054977 |
411 | L>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Craniopharyngioma Tuberous sclerosis 1 TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs397514840 RCV001208848 |
411 | L>V | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001326477 rs1845897946 |
412 | P>L | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001008215 RCV001293857 rs1588321344 |
413 | Q>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002363144 RCV000819343 rs1588321339 CA375366818 |
413 | Q>E | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786203715 RCV001058232 |
413 | Q>H | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16612643 rs1060503218 RCV000568537 RCV000457363 RCV002489078 |
413 | Q>R | Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Tuberous sclerosis 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001052119 COSM1106330 RCV002393262 CA027376 rs746550630 |
415 | T>I | Hereditary cancer-predisposing syndrome endometrium Tuberous sclerosis 1 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs397514778 RCV001250492 RCV000054881 |
417 | T>missing | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000054901 rs397514792 |
417 | T>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055012 RCV000988278 RCV000041999 rs77464996 RCV001165673 RCV000422201 CA004523 VAR_009403 RCV001010542 |
417 | T>I | Malignant tumor of urinary bladder Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 1 TSC1; unknown pathological significance; does not affect interaction with TSC2 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA375366761 RCV000642010 RCV002406392 RCV001771876 rs77464996 |
417 | T>K | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) Tuberous sclerosis 1 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1845895299 RCV001216958 RCV002411802 |
418 | P>A | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs997339959 RCV000469111 CA16612640 |
418 | P>H | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA375366748 rs997339959 RCV000685724 |
418 | P>R | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1845895299 RCV001228436 |
418 | P>S | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845895299 RCV001342107 |
418 | P>T | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA027469 RCV001214224 rs765145057 |
419 | P>A | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs878853959 RCV000229298 CA10582630 RCV001010360 RCV001813773 |
419 | P>H | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs878853959 RCV000641994 RCV002257896 RCV001766381 CA200893788 |
419 | P>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001343140 TCGA novel rs765145057 |
419 | P>S | Variant assessed as Somatic; impact. Tuberous sclerosis 1 [NCI-TCGA, ClinVar] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs118203506 RCV000201015 RCV000042000 |
420 | R>missing | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000533454 CA375366731 rs1554817078 |
420 | R>G | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1845729073 RCV001337789 |
422 | E>K | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002371858 RCV000042003 RCV000814745 rs118203509 |
424 | R>missing | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001692245 RCV001010682 rs753199284 RCV000642064 CA027928 |
425 | M>V | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000693555 rs1203057835 |
426 | D>A | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001010703 CA027960 RCV000726384 RCV001081666 RCV000407254 rs765695557 |
426 | D>Y | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs118203510 RCV001852862 RCV000042004 |
427 | S>missing | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001040743 RCV000122187 RCV003162558 rs587778721 CA004602 |
428 | A>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA375366183 rs1554816420 RCV000567662 RCV001836841 |
428 | A>V | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001049556 rs1845727586 |
429 | R>T | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002379529 RCV001046702 rs1845727308 |
430 | P>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA200890000 RCV000693071 rs762688935 RCV002386204 |
431 | C>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554816418 RCV000642016 |
431 | C>RGP | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1275474831 RCV001057703 CA375366150 |
433 | H>Q | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA375366153 RCV000546518 rs1554816403 RCV002384146 |
433 | H>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554816394 RCV000641977 |
435 | Q>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042005 CA004617 rs118203511 |
435 | Q>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000560409 RCV001574705 rs199800297 RCV000573643 CA028025 |
439 | L>V | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1845724649 RCV001328534 |
442 | R>* | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000480763 RCV001865459 rs1064795285 |
443 | G>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs760470520 RCV001071789 CA028063 RCV002307679 |
443 | G>R | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1489175329 CA375366083 RCV002257807 RCV001545105 RCV001195754 RCV000534300 |
443 | G>V | Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs118203512 RCV000042010 CA004634 CA004628 RCV000042009 |
444 | S>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs118203517 RCV000042016 |
446 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845700817 RCV001204979 |
446 | E>* | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000800082 RCV003166187 rs1588313030 CA375366049 |
447 | P>A | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002386164 rs772868048 CA028393 RCV000685757 |
447 | P>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV002381355 RCV000054987 rs397514848 CA004693 RCV001304807 |
448 | P>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000203929 CA004689 RCV000122189 RCV000130698 COSM307635 RCV000054961 RCV001811306 RCV000332357 rs118203518 VAR_070651 RCV000042017 |
448 | P>S | kidney Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 1 Autism spectrum disorder no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling [Cosmic, ClinVar, Ensembl, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000761012 RCV001591099 rs371093730 CA028454 RCV001011148 RCV000470038 |
452 | G>A | Hereditary cancer-predisposing syndrome Craniopharyngioma Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA375366017 RCV001219824 rs371093730 RCV001011147 |
452 | G>D | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs118203519 RCV000042018 CA004699 |
452 | G>R | Malignant tumor of urinary bladder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1271797824 CA375366012 RCV001345505 RCV001724299 |
453 | S>F | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs118203520 RCV000042019 |
454 | V>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203521 RCV000042020 |
455 | T>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042021 rs118203522 |
456 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000054912 rs397514798 |
456 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002513609 RCV000042022 rs118203523 |
457 | S>missing | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000485973 rs1554816245 RCV001856826 |
457 | S>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000562597 RCV000122188 RCV001704038 rs587778722 RCV003153402 RCV000475364 CA004748 |
457 | S>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000642045 rs1554816231 CA375365975 |
459 | L>H | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042024 rs118203525 RCV002513610 |
460 | P>missing | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM110601 CA200889578 rs140953644 RCV002381200 |
461 | G>E | Hereditary cancer-predisposing syndrome skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV001011278 CA375365958 rs1588312788 |
462 | F>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000527637 rs1064796237 |
463 | L>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000988277 rs1588312765 |
464 | G>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845696020 RCV001314868 |
464 | G>D | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845695519 RCV001214291 RCV001773478 |
468 | S>C | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845695519 RCV001216438 |
468 | S>F | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1564483296 RCV000699811 |
470 | E>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203526 RCV000042025 |
471 | D>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000696454 RCV002388269 rs1203620977 CA375365839 |
472 | S>N | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) Tuberous sclerosis 1 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1203620977 RCV002388196 RCV000686119 CA375365837 |
472 | S>T | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) Tuberous sclerosis 1 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs185159716 RCV002390714 CA028574 RCV000824318 |
473 | I>T | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA375365773 RCV000542508 RCV002395389 rs1554816213 |
477 | K>T | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002514075 rs796053469 RCV000189874 |
477 | K>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001090691 RCV000201075 rs118203527 RCV000042026 |
478 | E>missing | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397514858 RCV000055000 |
478 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203529 RCV002513611 CA004807 RCV000042028 |
478 | E>G | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000703887 rs1233867963 |
479 | E>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042027 rs118203528 |
479 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000642036 rs775367219 CA375365620 |
481 | A>V | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1554816076 RCV000641960 |
482 | I>* | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001207534 RCV002393466 rs1845658834 |
482 | I>M | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000805130 rs1588311235 CA375365591 |
483 | S>F | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000054909 rs397514797 |
485 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375365570 rs1564482622 RCV000693592 |
485 | E>* | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000054845 RCV000761004 RCV000319085 rs118203532 RCV000034602 RCV001085737 CA004868 RCV000189811 RCV000568490 |
487 | S>C | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 1 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA004877 rs118203533 RCV000042033 |
488 | E>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA375365515 RCV000698486 rs1564482602 |
489 | I>F | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1564482593 RCV002388314 RCV000701629 CA375365494 |
490 | T>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000642017 RCV002388085 rs1554816071 |
491 | T>missing | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203534 RCV000042034 |
491 | T>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000548301 rs1554816070 CA375365481 |
491 | T>I | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1845656527 RCV001240949 |
494 | A>T | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042035 rs118203535 |
495 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845656110 RCV001327304 |
495 | E>K | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001199382 rs1845654716 |
496 | P>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203536 RCV000042037 |
497 | V>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000541596 RCV002395390 CA200889097 rs946491568 |
497 | V>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs946491568 CA375365418 RCV000526711 |
497 | V>M | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs118203537 RCV000254845 CA004940 RCV001199095 RCV002390180 RCV000042038 RCV000474016 |
500 | R>* | Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) Variant assessed as Somatic; impact. Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar, Ensembl, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA004949 RCV000042039 rs118203538 VAR_054391 RCV001210673 |
500 | R>Q | Tuberous sclerosis syndrome Tuberous sclerosis 1 TSC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000042041 rs118203539 CA004963 |
501 | G>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397514876 RCV000055033 |
502 | G>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs281875358 RCV000988276 RCV000055030 |
506 | P>missing | Tuberous sclerosis 1 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203540 RCV000042042 |
506 | P>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000456728 rs1060503210 |
508 | Y>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845653443 RCV001322041 |
508 | Y>C | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA004986 RCV000189847 RCV000042043 RCV002390181 rs118203542 RCV000201132 RCV000055036 RCV000515319 |
509 | R>* | Malignant tumor of urinary bladder Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002490587 RCV000042044 CA004992 RCV000464379 rs118203543 VAR_070652 RCV000122191 RCV000567091 |
509 | R>Q | Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 no effect on expression; no effect on inhibition of TORC1 signaling [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1845652716 RCV001199383 |
510 | D>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000227889 rs118203544 RCV000042045 |
510 | D>missing | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000471415 RCV003168846 rs779206386 CA028963 |
510 | D>N | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001250748 rs1845652182 |
511 | S>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000054954 rs397514823 |
512 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042046 rs118203545 |
512 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000687521 rs1564482288 |
514 | G>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1564482313 RCV000700189 RCV002493222 CA375365170 |
514 | G>D | Lymphangiomyomatosis Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs118203546 RCV000042048 |
515 | S>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000804841 CA375365152 rs1588310754 COSM307636 |
516 | Q>* | kidney urinary_tract Tuberous sclerosis 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001012122 CA029018 RCV001078761 rs371908551 RCV000189848 |
517 | R>Q | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA375365139 RCV001766779 rs1243886871 RCV000871624 RCV002399935 |
517 | R>W | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs118203547 RCV000042049 |
520 | H>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003163671 RCV001217253 rs1845649293 |
520 | H>Y | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001219201 CA200888998 RCV001012194 rs759379027 |
521 | S>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001058048 rs1194627656 CA375365089 |
521 | S>P | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs759379027 RCV000695085 CA375365080 |
521 | S>W | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1461138345 RCV001012141 RCV001301475 CA375365072 |
522 | A>P | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1845647948 RCV001226109 |
522 | A>V | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000569517 RCV000042050 VAR_070653 RCV000466589 CA005056 rs118203548 |
523 | A>P | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs118203548 RCV001012168 CA375365059 RCV001234915 |
523 | A>T | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000641984 RCV001012234 rs1276296733 CA375365031 |
524 | S>F | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001063272 rs1845647074 |
525 | S>G | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001296262 rs750784794 |
525 | S>N | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000878275 CA029046 rs750784794 RCV002399971 |
525 | S>T | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000201005 rs118203550 RCV000042052 |
527 | Q>missing | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203549 RCV000578889 RCV000042051 RCV000054972 CA005069 RCV000660336 |
527 | Q>* | Malignant tumor of urinary bladder Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001070616 rs1554815989 RCV003160581 |
527 | Q>H | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000163699 RCV000641964 rs767708806 CA005092 |
527 | Q>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1845645876 RCV001215718 |
528 | G>C | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001294821 rs1845645876 |
528 | G>S | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001550423 RCV000552726 RCV001012259 rs766376606 |
528 | G>missing | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs751125011 RCV001012295 CA375364926 RCV002549365 |
529 | A>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000461460 RCV002258915 RCV001174799 CA029113 rs751125011 |
529 | A>T | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA16612579 rs368481360 RCV000456140 |
530 | S>N | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000606212 RCV001269495 RCV000565665 RCV001167779 rs368481360 RCV000437432 CA029137 RCV001085125 |
530 | S>T | Hereditary cancer-predisposing syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001315349 rs377279170 |
531 | V>L | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002256467 rs377279170 CA029167 RCV000689795 |
531 | V>M | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000475896 rs765149885 RCV001012341 CA029180 RCV001770354 |
532 | N>Y | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1331420425 RCV001229842 CA375364822 |
533 | P>T | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA658657919 RCV002404455 RCV000533275 rs1554815972 |
534 | E>DA | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000690001 RCV000189850 rs796053458 CA319298 |
534 | E>K | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001012344 rs1164741723 CA375364763 |
535 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA029226 RCV000642011 rs776633158 |
536 | L>S | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA375364707 rs1588310350 RCV000816019 |
538 | S>F | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1845643067 RCV001199384 |
539 | S>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203551 RCV000042053 |
539 | S>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375364667 RCV000811267 rs1588310300 |
540 | L>P | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA375364641 rs1346059974 RCV001012447 |
541 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001236469 rs1845641716 |
542 | K>* | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845641716 RCV001227823 |
542 | K>E | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375364597 RCV002397608 rs1588310271 RCV000800170 |
543 | L>P | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1588310271 RCV001233176 |
543 | L>R | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042054 rs118203552 |
544 | G>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001653832 rs770570830 RCV002256269 RCV000456545 CA029247 |
544 | G>E | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001860713 rs1588310178 CA375364497 RCV001012508 |
548 | P>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001080934 CA005126 RCV000569644 RCV000421357 RCV001167778 RCV000054849 rs118203553 RCV000034603 |
550 | Q>E | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 1 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000042056 rs118203554 |
554 | P>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000054962 rs397514829 |
555 | I>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001035719 RCV002400213 rs1845637294 |
556 | D>E | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042058 RCV000054884 rs118203556 |
557 | L>missing | Malignant tumor of urinary bladder Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375364310 rs1554815946 RCV000642022 |
558 | P>S | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042060 rs118203558 |
559 | C>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs368317116 RCV001035781 |
559 | C>* | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002317473 rs1395737285 RCV001364372 CA375364274 |
560 | G>D | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA029360 RCV000573925 RCV003139872 rs746304922 RCV000697288 |
560 | G>S | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000054946 RCV000713905 rs118203557 RCV000005407 |
561 | S>missing | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845635382 RCV001217549 |
561 | S>G | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001232802 rs1845635382 |
561 | S>R | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000165896 RCV001721075 rs377185303 RCV001818385 RCV000468971 CA005191 |
562 | A>G | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001241120 rs1845635236 |
562 | A>T | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042063 rs118203561 |
563 | D>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375364200 RCV001012714 rs1588309959 |
563 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA375364213 RCV000566405 rs1554815931 |
563 | D>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001201526 rs1554815931 RCV002402568 |
563 | D>N | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203562 RCV000042064 |
565 | S>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000520621 rs118203563 RCV000042065 RCV000660337 |
566 | P>missing | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554815914 RCV000509053 |
567 | A>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397514880 RCV000055039 RCV000189812 RCV000226919 RCV001719803 CA005229 VAR_070654 RCV000570274 RCV001167777 COSM3847948 |
567 | A>V | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Isolated focal cortical dysplasia type II breast Tuberous sclerosis 1 no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000042061 RCV001385236 rs118203557 |
568 | G>missing | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845633233 RCV001044024 |
568 | G>A | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001055987 rs1845632722 |
568 | G>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397514777 RCV000054880 |
569 | D>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042062 rs118203560 |
569 | D>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002397631 CA375364099 rs1588309831 RCV000804505 |
569 | D>G | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs118203564 RCV000491128 RCV001797053 RCV000042066 RCV001852864 |
570 | R>missing | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203565 RCV000042067 CA005258 |
573 | Q>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs118203565 RCV001059526 RCV002307670 |
573 | Q>E | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001012843 rs1454859974 CA375363992 RCV001223997 |
574 | T>A | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA200888593 RCV001049618 RCV001012848 rs548002938 |
574 | T>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000189813 rs548002938 RCV000574453 RCV001082340 CA029589 |
574 | T>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000623541 RCV002404708 rs1554815889 |
575 | S>missing | Hereditary cancer-predisposing syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001292920 RCV000803565 rs1588309702 |
575 | S>missing | Lymphangiomyomatosis Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042068 rs118203566 CA005267 |
575 | S>F | Variant assessed as Somatic; impact. Tuberous sclerosis syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000042070 rs118203568 |
576 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203569 RCV000042071 |
576 | L>C | Malignant tumor of urinary bladder [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042072 CA005302 rs118203570 |
577 | E>* | Variant assessed as Somatic; impact. Tuberous sclerosis syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000042073 VAR_009404 rs118203571 CA005310 |
577 | E>D | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001071045 RCV002411618 rs118203570 |
577 | E>K | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000809501 rs1588309612 CA375363905 RCV002406816 |
578 | T>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs118203572 RCV000042074 |
579 | S>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002411780 rs1845629411 RCV001211984 |
579 | S>G | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000642037 rs1179358967 RCV002397232 CA375363877 |
580 | I>V | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002397422 rs1564481573 RCV000695932 CA375363834 |
582 | T>A | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000267953 CA10629362 RCV000546659 RCV002402089 RCV001810867 rs886063623 RCV000360120 |
582 | T>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs118203573 RCV000042075 |
583 | P>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003163657 rs1845627777 RCV001215928 |
584 | S>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001167197 RCV001167198 RCV000167260 CA005341 rs786203799 |
584 | S>T | Hereditary cancer-predisposing syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs118203574 RCV000042076 |
585 | P>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000642025 rs1554815856 |
585 | P>* | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs766367103 RCV002298658 RCV000559070 RCV002404458 CA029621 |
585 | P>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000054999 rs397514857 |
586 | C>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA029644 RCV001218659 rs760356610 |
586 | C>R | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_009405 RCV000042077 rs118203575 |
586 | C>S | Tuberous sclerosis syndrome TSC1 [ClinVar, UniProt] | Yes |
ClinVar dbSNP UniProt |
|
rs1588309480 CA375363755 RCV000798191 |
586 | C>Y | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA005369 RCV001250493 RCV000054983 rs397514846 |
587 | K>* | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA375363738 RCV001165609 RCV001167196 rs397514846 |
587 | K>E | Isolated focal cortical dysplasia type II Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000303027 CA005376 RCV000042078 VAR_009406 RCV000224245 RCV000163265 rs118203576 RCV000005405 RCV000118691 |
587 | K>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 1 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000054935 rs397514811 |
589 | P>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001300322 CA375363689 rs1299279813 |
589 | P>S | Variant assessed as Somatic; 0.0 impact. Tuberous sclerosis 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA16612633 RCV000458959 RCV002411507 rs768985094 |
591 | P>L | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA029707 RCV000535112 RCV000567125 rs768985094 |
591 | P>Q | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000641965 RCV002397230 CA375363652 rs1429666367 RCV003126889 |
591 | P>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs118203579 RCV000042081 |
592 | T>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA029749 RCV001013102 rs775869914 RCV000726144 RCV001079404 |
592 | T>M | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000042083 rs118203581 CA005406 |
593 | R>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001766831 RCV001344396 RCV001013107 rs118203581 CA375363611 |
593 | R>G | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000559976 rs1554815829 |
594 | V>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060503194 CA16612455 RCV000474044 RCV001013134 RCV002489077 |
594 | V>E | Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1845623814 RCV001220593 |
594 | V>M | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554815828 RCV000660338 |
595 | G>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203582 RCV000042084 |
596 | F>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203583 RCV000042086 RCV000042085 |
598 | S>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000641987 CA375363473 rs766438395 RCV002397231 |
598 | S>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1845622314 RCV001243935 |
599 | G>E | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001085834 RCV001013121 CA029789 rs761959210 RCV000438344 |
599 | G>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1254353359 RCV002413534 RCV001561371 RCV000536003 CA375363430 |
600 | Q>H | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001201723 rs543077026 |
601 | P>H | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001013234 RCV000641985 rs543077026 CA029825 RCV000606429 |
601 | P>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
COSM1701862 RCV000813610 CA375363396 rs1588309097 |
602 | P>L | skin Tuberous sclerosis 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA375363409 rs1588309106 RCV001013240 |
602 | P>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001705060 rs751247705 RCV001013251 CA029874 RCV000474065 |
603 | P>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002406805 CA375363386 rs751247705 RCV000807814 |
603 | P>Q | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000688599 CA200888367 RCV002406548 rs751247705 |
603 | P>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1057522817 RCV000436287 RCV002481320 RCV000548490 CA16605641 RCV002411368 |
604 | Y>C | Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA200888354 rs994264701 RCV000813504 |
605 | D>G | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1588309025 RCV001337561 |
605 | D>H | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1588309025 RCV002406743 RCV001759502 RCV000795454 CA375363348 |
605 | D>N | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001035684 rs994264701 CA375363341 |
605 | D>V | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001297539 rs1845620152 |
606 | H>P | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002411506 RCV000462659 rs758769193 CA029913 |
606 | H>Q | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1343881428 RCV002501062 CA375363328 RCV000798422 |
606 | H>Y | Lymphangiomyomatosis Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs118203585 RCV000042088 |
607 | L>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000575387 CA375363304 rs1554815795 RCV001853805 |
607 | L>F | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1845619679 RCV001297447 RCV002411948 |
608 | F>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042089 rs118203585 |
609 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203587 RCV000042090 CA005447 |
609 | E>* | Variant assessed as Somatic; impact. Tuberous sclerosis syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001066903 rs1845619200 |
610 | V>M | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042093 rs118203589 |
614 | K>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002406793 rs1588308884 RCV000804689 CA375363166 |
615 | T>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001222625 RCV002411821 rs1845618225 |
616 | A>T | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1564481122 RCV000685891 |
617 | H>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA005479 rs397514854 COSM1570291 RCV000054994 |
617 | H>D | urinary_tract Tuberous sclerosis syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs397514854 CA375363151 RCV001211927 |
617 | H>Y | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs118203590 RCV000042094 |
618 | H>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000799036 RCV002406764 CA375363139 rs1588308804 |
618 | H>D | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs118203591 RCV000042095 |
619 | F>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000641990 rs1554815776 CA375363120 RCV001013355 |
619 | F>V | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1845617102 RCV001208288 |
620 | V>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845615656 RCV001198651 |
623 | K>missing | Lymphangiomyomatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001013415 CA029981 RCV003159132 rs754401816 RCV000536952 |
624 | T>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000701703 CA375363029 rs754401816 |
624 | T>S | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs886038287 RCV000475779 RCV000246586 RCV002411112 RCV001658164 CA10587021 |
625 | E>A | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000054940 RCV002515741 CA005496 rs397514815 |
626 | E>* | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001326373 rs397514815 |
626 | E>K | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203592 RCV000042097 RCV000042096 CA005513 CA005506 |
628 | L>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042098 rs118203594 |
629 | K>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000054908 rs397514796 |
629 | K>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA658656079 RCV000525430 rs1554815756 |
629 | K>Q | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs865941509 RCV001013535 CA200888243 |
629 | K>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001308000 rs1158059433 |
630 | K>E | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375362903 rs1158059433 RCV001013563 RCV000642048 |
630 | K>Q | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000042100 rs118203596 |
631 | A>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001258197 rs1845613535 |
631 | A>T | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554815747 CA375362849 RCV000554858 |
632 | K>R | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1564480935 RCV000699891 |
633 | G>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375362828 RCV000512850 rs1554815746 RCV001204906 |
633 | G>E | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000713907 RCV003162210 rs118203597 RCV000042102 RCV000005406 |
635 | T>missing | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042103 RCV000054920 RCV000824628 rs118203599 RCV001090689 |
636 | E>missing | Malignant tumor of urinary bladder Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000796332 rs1588308465 CA375362770 |
636 | E>Q | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1845611837 RCV001345309 |
637 | E>D | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000054916 rs397514801 |
638 | D>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000538760 CA030082 rs372583166 RCV000563536 |
639 | G>D | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000473830 RCV001090688 rs372583166 CA030103 RCV000491881 |
639 | G>V | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA005606 RCV001013706 RCV000555785 rs397514863 RCV000055006 |
641 | P>H | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001055534 rs397514863 |
641 | P>L | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000122190 RCV000163665 RCV001080054 CA005597 rs374222196 RCV000725780 |
641 | P>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001307609 rs1845610761 |
642 | S>F | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1485955306 RCV001770526 RCV000808127 CA375362637 RCV000566852 |
643 | T>A | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001013644 CA375362586 RCV001554285 RCV001496179 rs1269162063 |
645 | P>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001331173 CA375362555 RCV000803752 rs1588308288 |
646 | M>T | Isolated focal cortical dysplasia type II Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA005613 RCV002492502 RCV000295067 RCV000189851 RCV000130315 RCV000464079 rs145741748 RCV001579757 |
646 | M>V | Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1171512070 RCV001211168 |
647 | E>* | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375362540 RCV000704325 rs1171512070 |
647 | E>K | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs118203600 RCV000042105 |
648 | V>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001082729 RCV001013799 CA030214 RCV000782213 rs771341361 |
648 | V>A | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002413536 RCV000552146 rs939275328 CA200888178 |
650 | D>G | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs118203601 RCV000042106 |
652 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203602 RCV000042107 |
653 | I>missing | Malignant tumor of urinary bladder [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845607838 RCV001243019 |
653 | I>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042108 rs118203603 RCV000201178 |
654 | Q>missing | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA005658 RCV000042109 RCV002415486 rs75820036 RCV000698745 RCV000713908 |
654 | Q>* | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000234486 RCV000186670 rs75820036 VAR_009407 RCV000054846 RCV000570330 CA005650 RCV000034604 |
654 | Q>E | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Tuberous sclerosis 1 TSC1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1845607280 RCV001240574 |
654 | Q>H | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375362402 rs75820036 RCV000532752 |
654 | Q>K | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs397514793 RCV000054902 |
655 | Q>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002415487 RCV000189852 rs118203606 CA005663 RCV000042110 |
655 | Q>* | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000568507 CA375362346 rs1554815701 |
656 | G>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1845606482 RCV001246123 |
657 | A>G | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002255265 CA005685 rs118203608 RCV001056632 CA375362316 RCV000042112 RCV000841758 |
658 | D>E | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 Tuberous sclerosis 1 (tsc1) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001013813 RCV000545216 CA200888114 rs914628341 |
659 | A>T | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA005692 RCV000469663 rs118203609 RCV000042113 RCV000570911 COSM1460744 RCV001002541 RCV002292461 |
659 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome prostate Tuberous sclerosis 1 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs886041538 CA10603105 RCV000379901 RCV000557618 |
663 | E>* | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002481860 RCV001037895 RCV001819743 rs1845605103 |
663 | E>V | Lymphangiomyomatosis Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000799145 RCV002255527 rs748733167 CA375362220 CA030359 |
665 | N>K | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ExAC gnomAD ClinVar dbSNP |
|
rs1845604585 RCV001199385 |
666 | K>* | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845604585 RCV001295441 |
666 | K>E | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001014009 RCV000546131 CA375362211 rs1419720341 |
666 | K>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA005764 RCV001203717 rs118203617 RCV000042121 |
669 | L>* | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000642004 rs118203617 CA375361471 |
669 | L>S | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001333393 rs1845546239 |
671 | S>I | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001307595 rs1845545985 |
671 | S>R | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001325047 rs774835995 |
673 | S>C | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA030627 rs774835995 RCV000705976 RCV001014066 |
673 | S>Y | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA375361342 RCV000821249 rs1588305911 |
674 | V>G | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1845544758 RCV001202159 |
674 | V>I | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203619 RCV000042123 |
675 | D>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203620 RCV000517079 RCV000042124 |
675 | D>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs768189353 RCV000469642 RCV002418418 CA16612762 |
675 | D>N | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002418419 RCV000466052 rs768189353 CA16612758 |
675 | D>Y | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs118203621 RCV000042125 CA005793 |
676 | W>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000558526 rs1554815454 CA375361284 |
676 | W>* | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000189817 RCV001014108 RCV001083108 rs748901883 CA030669 |
676 | W>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs118203622 RCV000042126 |
677 | T>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001576295 rs779584449 CA030690 RCV000534575 RCV002256367 |
677 | T>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA200887452 RCV001069932 RCV001014151 rs745413532 |
678 | H>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201392975 RCV001348195 |
678 | H>Q | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs745413532 RCV001066072 CA030722 RCV003223697 RCV002418541 |
678 | H>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA030706 RCV000799908 rs755647717 RCV002422735 |
678 | H>Y | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000226639 RCV000042127 rs118203623 CA005810 RCV002256018 |
680 | G>E | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA030742 RCV000527544 rs757322533 RCV002420441 |
680 | G>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002415489 RCV000042131 CA005830 rs118203624 |
681 | G>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs919177189 CA200887013 RCV001302993 RCV003166709 |
682 | S>C | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000804217 rs1588304748 CA375361166 |
682 | S>P | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000055017 rs397514869 |
683 | P>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1413960643 CA375361158 RCV001044312 |
683 | P>R | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002415508 rs397514799 RCV001208037 RCV000054913 |
684 | P>missing | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845511359 RCV002416367 RCV001045691 |
684 | P>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs746909024 RCV000535456 CA031030 RCV002420442 |
684 | P>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs118203629 CA005869 RCV000042134 |
685 | S>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA005874 RCV000163698 RCV000641974 rs786201465 |
686 | D>G | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000692996 RCV002422504 CA375361146 rs1406756346 |
686 | D>N | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs202241429 RCV000164473 CA005878 RCV000439211 RCV001086626 |
689 | R>C | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000034605 rs200827913 CA005883 RCV001083067 RCV000163566 |
689 | R>H | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001221314 rs200827913 |
689 | R>L | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375361122 RCV001339812 rs200827913 RCV001014297 |
689 | R>P | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002497727 RCV001213498 rs752473063 CA031090 RCV002418730 |
690 | T>A | Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1845509575 RCV001246986 RCV002418850 |
690 | T>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203630 RCV000042135 CA005888 |
690 | T>NT* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002269285 RCV002420443 CA375361113 rs1554815343 RCV000528471 |
691 | L>F | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000214697 CA10578826 RCV001036709 rs876658244 |
691 | L>P | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000547920 rs1554815343 CA375361114 |
691 | L>V | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000054891 RCV000201087 rs118203631 RCV000413998 COSM1570289 RCV000042136 RCV002415490 RCV000763190 CA005901 |
692 | R>* | Malignant tumor of urinary bladder Variant assessed as Somatic; 0.0 impact. liver Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) urinary_tract Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar, NCI-TCGA, Cosmic, Ensembl] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
rs199755731 RCV002416376 RCV001049595 |
692 | R>P | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA005908 RCV000034606 RCV000317696 rs199755731 RCV000515239 RCV000163280 RCV001083195 |
692 | R>Q | Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) Isolated focal cortical dysplasia type II Tuberous sclerosis 1 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_070655 CA005916 RCV000564681 RCV000054914 RCV000724243 rs397514800 RCV001083507 |
693 | D>H | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001327758 rs397514800 |
693 | D>Y | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042137 rs118203632 RCV003125887 |
694 | Q>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002509195 rs397514789 RCV000054897 RCV002267724 CA005924 RCV000054918 |
694 | Q>* | Malignant tumor of urinary bladder Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA375361100 RCV000810507 rs397514789 |
694 | Q>K | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1845506304 RCV001050694 RCV002416382 |
696 | L>F | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845506304 RCV001325473 |
696 | L>I | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001387641 RCV000042138 rs118203633 |
697 | L>missing | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_070656 CA005940 rs397514802 RCV000054923 |
698 | L>R | Tuberous sclerosis syndrome TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs118203634 RCV000042139 |
699 | H>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000641999 rs1554815319 CA375361062 |
699 | H>Q | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001042389 rs1845505398 |
699 | H>R | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845505547 RCV001064462 |
699 | H>Y | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554815323 RCV000054970 |
700 | N>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203635 RCV000042140 |
700 | N>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845504712 RCV001302784 |
700 | N>S | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203637 RCV000042144 |
701 | Q>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042145 rs118203636 |
701 | Q>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000054900 rs397514791 |
701 | Q>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203638 RCV003128388 RCV000042148 |
701 | Q>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001199386 rs1845504382 RCV001508277 |
701 | Q>* | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA006014 RCV000042147 VAR_070657 rs118203639 |
701 | Q>H | Tuberous sclerosis syndrome TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000691650 rs1564478705 |
702 | L>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000054975 RCV001218210 rs397514838 |
703 | L>missing | Tuberous sclerosis 1 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001853082 rs118203638 RCV000054882 RCV000523879 |
703 | L>missing | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203642 RCV000042150 |
703 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042156 RCV000483745 RCV000476162 rs118203645 |
703 | L>* | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042151 rs118203643 |
703 | L>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203641 RCV000042149 |
704 | Y>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203644 RCV000042155 |
704 | Y>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042157 CA006056 RCV001235747 rs118203646 RCV001199387 |
704 | Y>* | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA031442 rs752054698 RCV000595767 RCV001079196 RCV002420444 |
704 | Y>C | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
CA375361017 rs1588304163 RCV002415932 RCV000821455 COSM1106324 |
706 | R>C | Hereditary cancer-predisposing syndrome endometrium Tuberous sclerosis 1 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
COSM1674921 RCV001014317 CA375361015 RCV001299229 rs1588304158 |
706 | R>H | large_intestine Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001309920 rs1588304158 |
706 | R>P | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000800528 rs1588304163 CA375361019 |
706 | R>S | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002418916 RCV001302483 rs1845501093 |
707 | F>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845500801 RCV001340174 |
708 | K>Q | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA006060 RCV000521121 rs397514874 RCV000055023 |
710 | Q>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042158 rs118203647 CA006063 RCV000688704 |
711 | Q>* | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042160 rs118203648 |
712 | H>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375360929 RCV001049309 rs1286421874 |
713 | A>V | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1438737976 RCV000554328 CA375360913 |
714 | L>H | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001344700 rs1564478519 |
715 | R>G | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001057359 CA200886760 rs986350787 |
715 | R>Q | Variant assessed as Somatic; 0.0 impact. Tuberous sclerosis 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA375360903 rs1564478519 RCV000690496 RCV001724140 |
715 | R>W | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs118203650 RCV001385877 RCV001008783 RCV000042161 |
716 | N>missing | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042162 rs118203651 |
718 | R>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002429541 RCV000461435 CA16612632 rs1060503207 |
718 | R>Q | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001319237 RCV001014606 rs1445358121 CA375360858 |
718 | R>W | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs397514803 RCV000054924 |
719 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845497321 RCV001239992 |
720 | L>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000805367 rs763357144 CA031596 RCV002424872 |
721 | R>C | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs763357144 CA375360817 RCV001315079 |
721 | R>G | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000488377 RCV002431423 rs769566267 RCV001089212 CA031606 |
721 | R>H | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA031632 rs769566267 RCV001045306 |
721 | R>P | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1060503213 RCV000466326 |
722 | K>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA006087 RCV000054872 rs397514772 |
722 | K>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs118203652 RCV000042164 |
724 | I>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042165 rs118203653 |
725 | K>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042166 rs118203654 |
726 | A>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042167 rs118203655 CA006104 VAR_009408 |
726 | A>E | Tuberous sclerosis syndrome TSC1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1554815246 RCV000540931 |
728 | A>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845494587 RCV001070811 |
728 | A>S | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375360696 RCV000692320 rs1564478337 |
728 | A>V | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs118203656 RCV000042168 |
731 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397514820 CA006117 RCV000054949 RCV001389750 |
731 | E>* | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Tuberous sclerosis 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000229210 RCV001014736 CA10582624 rs878853964 |
732 | H>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000005410 RCV000054851 RCV000129684 RCV000118692 rs118203657 VAR_009409 CA006123 RCV000034607 RCV000278906 RCV000005409 |
732 | H>Y | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Focal cortical dysplasia of Taylor type 2B Isolated focal cortical dysplasia type II Tuberous sclerosis 1 might be associated with susceptibility to focal cortical dysplasia of the Taylor balloon cell type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1564478277 CA375360608 RCV000697854 |
733 | N>T | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1588302128 RCV000821895 CA375360164 |
737 | K>E | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA375360130 RCV001014815 rs1588302102 |
738 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA375360120 RCV001387999 RCV000592666 rs1554815054 |
739 | Q>* | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA006148 rs587778723 RCV000122192 RCV001320522 |
741 | K>Q | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1588302047 RCV001860777 RCV001014846 CA375360085 |
741 | K>T | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060503201 CA16612627 RCV000476200 |
742 | L>S | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000414029 CA006160 RCV001199388 rs118203661 RCV000042172 |
743 | Q>* | Variant assessed as Somatic; impact. Tuberous sclerosis syndrome Tuberous sclerosis 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1554815049 RCV000555253 |
744 | E>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs753265422 RCV001230944 |
745 | K>N | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000543698 RCV002485028 CA006171 rs786203007 RCV000166123 |
746 | D>Y | Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA375359976 RCV000693923 rs1564477496 |
747 | I>V | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000820650 rs1588301951 CA375359955 |
748 | Q>* | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA375359947 RCV000795121 rs1588301930 |
748 | Q>H | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1845453970 RCV001232210 |
750 | W>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042173 rs118203662 RCV000993362 CA006178 |
750 | W>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA006184 RCV000042174 RCV002513613 rs118203663 |
750 | W>* | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1845453410 RCV001036693 |
751 | K>N | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845453569 RCV001221957 |
751 | K>Q | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003166459 CA031994 RCV001235826 rs765643529 |
752 | V>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1845452711 RCV001207537 |
755 | Q>* | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042176 rs118203665 RCV001281331 |
756 | K>missing | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16044045 rs1057519319 RCV000416374 |
757 | E>* | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1845452248 RCV001299562 |
757 | E>V | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397514783 RCV000705433 RCV000054888 CA006205 RCV000428655 |
758 | Q>* | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001229466 rs397514783 CA375359815 |
758 | Q>K | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1554815021 RCV001014871 CA375359801 |
759 | A>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16612449 RCV002446832 rs1060503199 RCV000463706 |
759 | A>T | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554815021 CA375359799 RCV000560644 |
759 | A>V | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042177 rs118203666 |
761 | Y>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000422886 rs118203668 CA006227 RCV000042180 RCV000042181 RCV001199389 CA006235 |
761 | Y>* | Tuberous sclerosis 1 Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000641976 CA375359771 rs1554815018 |
761 | Y>C | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs776386313 CA032032 RCV000567937 RCV000988275 |
761 | Y>H | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs118203667 RCV000042179 |
762 | N>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002442707 rs1264839312 CA375359764 RCV000809055 |
762 | N>D | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000270998 rs118203670 RCV000042182 RCV000130869 RCV000713909 RCV001083830 CA006241 RCV000189820 VAR_070658 |
762 | N>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 1 TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001223370 rs118203671 RCV000042183 CA006248 |
763 | Q>* | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042184 rs118203672 |
764 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001384743 CA006259 RCV000523745 RCV000042185 rs118203673 |
765 | Q>* | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1403227945 RCV001015096 CA375359672 RCV001313253 |
766 | E>D | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001015049 CA375359681 rs1588301593 |
766 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001015045 rs1588301609 CA375359684 |
766 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042186 rs118203674 |
767 | Q>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042187 rs118203675 CA006274 |
767 | Q>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000693569 RCV002458242 rs118203675 CA375359665 |
767 | Q>E | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001322505 rs1845448996 |
767 | Q>H | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845449144 RCV001061820 |
767 | Q>P | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002447405 rs1845449144 RCV001342614 |
767 | Q>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002424828 rs1588301564 RCV000796978 CA375359642 |
768 | R>C | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000575617 rs1033725987 CA16612757 RCV000467121 RCV000764812 |
768 | R>H | Variant assessed as Somatic; 0.0 impact. Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA006280 RCV000983928 rs760208449 RCV000164860 |
771 | M>T | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001861557 RCV002256231 rs1057522203 CA16605547 RCV000424798 COSM487174 |
771 | M>V | kidney Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV001218787 CA375359578 rs1468880078 |
772 | V>I | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000042188 rs118203676 |
773 | T>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060503202 CA16612751 RCV000463553 |
773 | T>H | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs118203677 RCV000042189 |
774 | K>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845446236 RCV001198227 |
774 | K>missing | Lymphangiomyomatosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs868755168 CA16612447 RCV000456582 RCV000568606 RCV001538625 RCV001167710 |
775 | L>F | Hereditary cancer-predisposing syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000042190 rs118203678 |
776 | H>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001333395 rs397514780 RCV000054883 |
777 | S>missing | Lymphangiomyomatosis Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000537668 RCV002448702 rs1554814968 CA375359484 |
777 | S>G | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000642050 CA375359466 rs1554814967 RCV002449016 |
777 | S>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs118203679 RCV000042191 CA006315 |
778 | Q>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1845445850 RCV001043093 |
778 | Q>L | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002445213 RCV001036371 rs1845445721 |
779 | I>V | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1588301374 RCV000824442 |
780 | R>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000760541 rs1564477162 RCV001855927 CA375359430 |
780 | R>* | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1845445479 RCV001343248 RCV002447410 RCV001773685 |
780 | R>K | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002054843 RCV002426584 RCV000042192 RCV000473593 rs118203680 CA006322 |
781 | Q>* | Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000054995 rs397514855 RCV002274891 |
782 | L>missing | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845444954 RCV001215456 |
782 | L>Q | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001199390 RCV000042193 CA006332 rs118203681 |
783 | Q>* | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Tuberous sclerosis 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042195 rs118203683 |
786 | R>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203682 RCV000415379 RCV000201048 COSM1645181 CA006339 RCV000042194 RCV000491852 RCV000519452 |
786 | R>* | liver Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Tuberous sclerosis 1 [Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1336228562 RCV000690186 CA375359294 |
786 | R>Q | Variant assessed as Somatic; impact. Tuberous sclerosis 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000042196 rs118203684 |
787 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554814935 RCV000458177 |
787 | E>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1588301269 RCV000817013 |
787 | E>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000699377 RCV002316001 CA375359272 rs1564477079 |
787 | E>D | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002442499 CA375359285 rs1564477097 RCV000700784 RCV002499255 |
787 | E>K | Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042198 rs118203686 |
788 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203685 RCV000793708 CA006362 RCV000042197 |
788 | E>* | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs749111647 RCV000798316 RCV001015305 CA032216 |
790 | Y>C | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs876660894 CA10578824 RCV000219599 |
791 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA319304 RCV000189855 RCV003153464 rs796053460 RCV002453702 RCV000558000 |
792 | Q>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000579359 rs781371665 CA375359090 RCV001853844 COSM753312 |
794 | Q>* | lung Variant assessed as Somatic; impact. Tuberous sclerosis 1 [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000704242 RCV002311991 CA032232 rs781371665 |
794 | Q>K | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs397514786 RCV000054894 |
796 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000551066 RCV002496733 CA006376 RCV000413404 rs397514862 RCV000055004 |
797 | Q>* | Lymphangiomyomatosis Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397514862 RCV000534033 CA375358996 RCV003159829 |
797 | Q>K | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1331635112 RCV000816577 RCV001015382 RCV001766718 CA375358826 |
798 | T>M | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000481095 CA006392 RCV000042200 rs118203687 |
801 | E>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs118203688 RCV000042201 |
803 | C>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203689 RCV000042202 |
805 | N>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845380748 RCV002253766 RCV001062096 |
805 | N>D | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845380611 RCV001048264 |
806 | M>V | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042203 RCV002483037 rs118203690 CA006415 RCV000642006 |
807 | I>T | Lymphangiomyomatosis Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000042204 rs118203691 |
808 | A>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002500758 RCV000233834 RCV001015473 RCV001545419 rs756514375 CA032629 |
808 | A>V | Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001082222 CA006422 RCV000574658 rs118203692 RCV000042205 VAR_009410 RCV000227608 |
809 | E>Q | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_070659 RCV000054939 CA006430 RCV000641963 rs397514814 |
811 | R>G | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Tuberous sclerosis 1 TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV002235444 RCV001015512 CA032689 RCV001568061 rs761281095 RCV000823084 |
811 | R>Q | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA375358621 RCV000804741 RCV002453791 rs397514814 |
811 | R>W | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) Tuberous sclerosis 1 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001247178 RCV001773564 CA032712 rs751128287 |
812 | I>V | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1588299201 RCV000988274 |
813 | E>* | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000641982 rs1554814657 CA375358595 |
813 | E>G | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001306681 rs1845377926 |
815 | K>N | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375358575 rs1588299170 RCV001015564 RCV001372596 |
815 | K>T | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1588299158 RCV000826206 CA375358564 |
816 | K>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000641969 CA375358553 rs1554814652 RCV002284415 RCV002499080 |
817 | A>S | Lymphangiomyomatosis Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002447418 RCV001346442 rs1845377267 |
817 | A>V | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042206 rs118203693 |
819 | N>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002442652 RCV000800186 rs1588299112 |
819 | N>missing | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845376841 RCV001222259 |
820 | K>E | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000705362 RCV001167132 CA375358333 RCV001015606 rs1369700443 |
820 | K>R | Hereditary cancer-predisposing syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1845376276 RCV001053017 |
821 | V>M | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203694 RCV000042208 |
822 | C>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203696 RCV000042209 |
823 | H>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042210 rs118203695 |
823 | H>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203697 RCV002513615 RCV000042211 |
823 | H>* | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203698 RCV000042212 |
824 | T>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554814639 RCV001814185 RCV000540423 CA375358306 |
824 | T>A | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1845375284 RCV001339943 |
824 | T>N | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001310016 rs1845374191 |
827 | L>P | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055024 rs118203699 CA006510 |
829 | S>C | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1202468122 CA375358275 RCV001066892 |
829 | S>N | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
VAR_009411 rs118203699 RCV001539406 CA006502 RCV000576111 RCV000042213 RCV000464791 |
829 | S>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1564475884 CA375358269 RCV000689532 |
830 | Q>* | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA375358270 rs1564475884 RCV000761064 |
830 | Q>E | Neuroblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16612626 RCV000458112 rs773279842 RCV002429540 |
831 | V>F | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000641983 rs773279842 CA375358263 |
831 | V>I | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs118203700 RCV000042214 CA006516 |
833 | Q>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs118203701 RCV000042215 |
835 | L>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000796200 CA006565 RCV001015787 rs118203706 RCV000042220 |
836 | S>* | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001204770 rs1845336311 |
836 | S>P | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000522266 rs118203707 RCV000201118 RCV001198554 RCV000042222 RCV000415443 |
837 | N>missing | Lymphangiomyomatosis Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042224 rs118203709 RCV000541372 |
837 | N>missing | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845335475 RCV001305812 RCV003166736 |
838 | S>G | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060503208 CA16612624 RCV000475975 |
838 | S>N | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001015743 CA375370320 rs786203259 |
838 | S>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060503208 RCV001227429 RCV002429968 |
838 | S>T | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000176033 rs794727320 RCV000724294 |
839 | E>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001015821 CA375370311 rs1588297551 |
839 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA375370295 RCV000691792 rs1564475110 |
840 | S>L | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000054989 rs397514850 |
841 | V>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000529738 CA375370274 rs1447417010 RCV000760377 |
842 | Q>* | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000042225 rs118203710 |
843 | Q>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375370252 rs1114167619 RCV000491561 |
844 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1564474974 RCV000694011 |
849 | N>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1554814418 RCV000559171 CA375370165 |
849 | N>K | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060503195 RCV000475792 CA16612745 |
850 | R>K | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001015906 RCV001860807 CA375370147 rs1588297391 |
851 | Q>* | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1588297391 RCV000812934 CA375370149 |
851 | Q>E | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000042227 RCV000679899 rs118203711 |
853 | L>missing | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845331236 RCV001242480 |
855 | L>P | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042229 RCV000042228 rs118203712 RCV000189877 |
857 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002429866 RCV001203070 rs1845329722 |
858 | V>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397514865 RCV001199391 RCV000055013 |
861 | L>missing | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060503221 RCV000464287 CA16612567 |
862 | Y>C | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001042431 rs1845328711 |
864 | E>* | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042230 rs118203714 |
865 | Q>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000255336 RCV001859489 RCV002429196 rs886039662 CA10588469 |
865 | Q>* | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) Tuberous sclerosis 1 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001065555 rs1845327789 |
869 | K>* | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845327520 RCV001060615 RCV001772280 |
869 | K>N | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000795404 CA375369898 rs1588297197 |
869 | K>R | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001307916 rs1845327392 |
870 | H>R | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1166302175 RCV001348512 CA375369865 |
871 | S>L | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000458622 RCV001016107 rs746607455 CA16612739 |
872 | D>H | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002431961 rs746607455 RCV001342550 CA033508 |
872 | D>N | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA375369840 rs1554814368 RCV000562317 RCV001859977 |
874 | T>P | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001352604 CA375369817 rs777437357 |
875 | K>N | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs747602915 CA034018 RCV001028066 RCV000760325 |
876 | E>* | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs747602915 RCV002424443 RCV000641988 CA375369729 |
876 | E>K | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) Tuberous sclerosis 1 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
CA375369712 RCV000694246 rs1564472328 |
877 | V>A | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002436685 RCV001070184 rs1321117036 |
877 | V>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000525563 RCV000642041 CA375369686 RCV001296291 rs1554813610 RCV002456131 CA375369689 RCV002424446 |
879 | M>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs754457018 RCV002257984 RCV000817447 RCV001167131 CA034047 |
879 | M>T | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) Isolated focal cortical dysplasia type II Tuberous sclerosis 1 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs778416424 RCV001575745 RCV001227729 RCV002429969 CA034033 |
879 | M>V | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1218889799 CA375369669 RCV002424444 RCV002291715 RCV000642015 RCV001057124 |
880 | M>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP ClinGen TOPMed |
|
rs1554813602 CA375369656 RCV000571575 |
881 | K>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1271658593 CA375369652 RCV001222026 |
882 | A>T | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA375369645 RCV000542540 rs1554813594 |
882 | A>V | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002496669 RCV000234628 RCV000042236 RCV001703927 VAR_070660 CA006773 rs118203721 RCV000561284 |
883 | A>T | Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs118203722 RCV000042237 |
884 | Y>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000054926 rs397514805 CA006783 |
884 | Y>* | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1449821288 CA375369627 RCV000808604 RCV002495109 |
884 | Y>C | Lymphangiomyomatosis Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000176157 rs200514807 RCV000571983 CA006799 RCV001088675 |
885 | R>Q | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001084137 RCV001016218 RCV000457663 CA006792 rs118203723 RCV000042238 |
885 | R>W | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000054960 rs397514788 |
886 | K>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375369611 rs1554813568 RCV001016228 |
886 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000054896 rs397514788 |
887 | E>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000468584 RCV000122193 CA006829 rs587778724 RCV000566373 |
889 | E>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000550474 RCV000042240 RCV001852865 RCV000042239 rs118203724 RCV000055029 RCV000201176 RCV001016278 |
891 | N>missing | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001199392 rs1845149321 |
891 | N>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001016277 RCV000829005 CA16612565 rs1060503203 RCV000475479 |
891 | N>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs118203726 RCV000042241 RCV000201049 |
892 | R>missing | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000688397 rs1396314595 CA375369518 RCV002424599 |
893 | S>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA375369498 rs1588290830 RCV000812840 RCV002440765 |
894 | H>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1845148693 RCV002427478 RCV001034997 |
894 | H>Y | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845148114 RCV001237852 |
895 | V>A | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000466864 CA034261 RCV002436452 rs576476807 |
895 | V>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA375369477 RCV000701020 rs377132822 |
896 | L>F | Variant assessed as Somatic; impact. Tuberous sclerosis 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
rs377132822 RCV000698168 RCV002256478 CA034289 |
896 | L>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV000042242 CA006867 rs118203727 RCV000255974 RCV000490863 RCV001797598 |
897 | Q>* | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs372915963 RCV001341064 |
897 | Q>H | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000538905 CA006876 RCV000042243 rs118203728 RCV000491065 |
898 | Q>* | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) Variant assessed as Somatic; impact. Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar, Ensembl, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs118203729 RCV000042244 |
899 | T>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_009412 RCV000054844 RCV000034608 CA006893 RCV001079804 RCV000616913 RCV000574632 RCV000328079 rs76801599 |
899 | T>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 1 TSC1 [ClinVar, Ensembl, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD |
|
RCV000042245 rs118203731 |
900 | Q>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000055019 RCV000201112 RCV002508192 RCV002426611 CA006903 rs397514871 |
900 | Q>* | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) Variant assessed as Somatic; impact. Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar, Ensembl, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs397514871 RCV001243426 |
900 | Q>E | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001016354 CA375369424 rs560986491 RCV000707540 |
900 | Q>H | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1554813482 CA375369387 RCV002438379 RCV000555924 |
904 | T>A | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000704025 rs1564471932 CA375369380 |
904 | T>I | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000801733 rs1588290658 |
906 | Q>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA006937 RCV000660339 RCV000627233 RCV000042246 rs118203732 |
906 | Q>* | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Tuberous sclerosis 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1588290641 RCV000815795 |
907 | K>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002424445 rs780115763 RCV000642018 CA034413 |
908 | R>Q | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000641971 RCV000574197 rs748845915 CA034396 |
908 | R>W | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001231886 CA375369332 RCV002451550 rs1374339026 |
909 | I>T | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs397514873 RCV000531979 RCV000055021 RCV002483081 RCV001016484 CA006954 |
917 | A>P | Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA034537 RCV001047996 rs757025842 |
918 | K>R | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA375369228 rs1319954878 RCV000696825 |
919 | K>E | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000539845 RCV000565384 CA375369224 rs1319954878 |
919 | K>Q | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA375369222 RCV000699632 rs1324456435 |
919 | K>T | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000792900 rs1588290485 CA375369199 |
921 | H>N | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1011595359 RCV001227404 |
922 | L>F | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002496734 RCV001853084 CA006974 rs397514879 RCV000055038 |
926 | Q>* | Lymphangiomyomatosis Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA034563 RCV000816674 rs397514879 |
926 | Q>E | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000641958 rs1554813423 CA375369131 |
926 | Q>H | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs397514845 RCV000054982 |
927 | K>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001227482 rs118203733 |
927 | K>N | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203734 RCV000042251 |
929 | Y>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845137259 RCV001214029 |
931 | E>A | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845137395 RCV001072006 RCV002436692 |
931 | E>Q | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs766871150 RCV002550819 CA375369047 RCV001016623 |
932 | D>E | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001352605 rs1845136906 |
933 | V>F | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001253033 RCV000760329 RCV000042253 rs118203735 CA007024 |
936 | Q>* | Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001217492 rs1845136006 |
937 | A>T | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1249697208 RCV000641968 CA375368983 RCV002440289 |
938 | R>K | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA375368953 rs1439157444 RCV000812192 |
938 | R>S | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1564471685 CA375368950 RCV000707002 RCV002440549 |
939 | G>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000575774 CA375368946 RCV001339310 rs1350545510 |
939 | G>V | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA375368943 RCV002307655 RCV001250431 RCV001016672 rs1588290078 |
940 | Q>* | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001314212 rs1845131755 |
940 | Q>P | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000042258 rs118203739 |
944 | A>missing | Tuberous sclerosis syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs751362258 RCV001299152 RCV002437015 |
944 | A>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM204453 RCV001016721 RCV000467686 CA034791 rs751362258 |
944 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA16612619 rs1060503225 RCV000470724 |
946 | S>C | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002436595 rs1845130264 RCV001049191 |
946 | S>N | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001319878 rs1845130132 RCV002438727 |
947 | R>G | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375368895 RCV000642030 CA375368894 RCV002258984 RCV002505623 rs1417111404 RCV001059540 |
947 | R>S | Hereditary cancer-predisposing syndrome Lymphangiomyomatosis Tuberous sclerosis 1 (tsc1) Tuberous sclerosis 1 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000467839 rs989183765 CA16612618 RCV001577112 RCV002436453 |
948 | Y>C | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Tuberous sclerosis 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001233677 rs989183765 |
948 | Y>F | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001214809 rs1845129427 |
950 | A>S | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA891843349 RCV000697846 rs1564471610 |
954 | I>N | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1488726432 RCV003166239 RCV000804534 CA375368839 |
955 | T>N | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA375368831 rs1212768461 RCV000529274 |
956 | Q>L | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1212768461 RCV000642040 CA375368832 RCV002440290 |
956 | Q>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs760762170 RCV000796947 RCV000563196 RCV002491142 CA034889 |
961 | E>G | Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001221158 rs1438535722 |
962 | I>N | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000546303 CA375368787 rs1438535722 |
962 | I>S | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA375368791 rs1227198324 RCV001232734 |
962 | I>V | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA200926420 RCV001016888 RCV000689051 rs1033463168 |
964 | D>N | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001771874 RCV000641981 rs1554813302 CA375368774 |
964 | D>V | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001055774 rs750886491 |
965 | L>F | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16612444 RCV000471719 RCV002525597 RCV001016836 rs1060503217 |
965 | L>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000558701 RCV000608003 rs767946427 RCV001016839 CA034926 |
966 | Y>H | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1845122540 RCV001072100 |
972 | D>N | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs549467159 RCV000870405 CA035074 RCV001017513 RCV000606735 RCV001531749 |
975 | L>Q | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000189822 rs796053448 RCV000819696 RCV001017516 CA319252 |
976 | K>E | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001322287 rs1845120600 |
977 | K>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002438382 CA375368448 rs1433723046 RCV000534632 |
977 | K>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001017566 RCV001318587 rs770834438 CA375368433 |
978 | L>H | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA200926380 RCV001318932 rs397514859 RCV002438724 |
978 | L>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs770834438 RCV000698701 CA375368431 |
978 | L>P | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA035096 rs770834438 RCV000491384 RCV001856934 |
978 | L>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002316209 RCV000724068 RCV000055001 CA007103 rs397514859 VAR_070661 RCV001081160 |
978 | L>V | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV002434429 RCV001036153 rs1845118974 |
979 | E>K | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10578823 rs876658600 RCV000213677 RCV000475045 |
980 | E>K | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1233796412 RCV000696301 |
981 | E>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16606315 rs1057520508 RCV000428530 RCV001851042 |
982 | K>R | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001037311 rs1845117262 |
983 | A>S | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000641972 rs1554813242 CA375368313 |
985 | A>T | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs867884507 RCV001305453 |
987 | E>G | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001584094 RCV000300433 CA035133 rs537585211 RCV000868465 RCV001017692 |
989 | A>S | Hereditary cancer-predisposing syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000535695 CA375368233 rs1554813219 |
989 | A>V | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001169544 RCV001536549 RCV000573300 CA035148 RCV000226388 rs200398750 |
990 | E>K | Hereditary cancer-predisposing syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1554813210 RCV000642020 |
992 | R>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1453837305 CA375368098 RCV000820251 |
992 | R>S | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001309026 rs78868727 |
994 | D>H | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002438743 RCV003151853 RCV001324840 CA035458 rs144314195 |
995 | C>Y | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA375368037 RCV000536602 RCV002438383 rs1554813029 |
996 | C>G | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA035478 RCV001036653 rs771810884 |
996 | C>Y | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA035493 RCV000727040 RCV000570020 RCV002440647 RCV000796986 CA035511 RCV001323564 rs780224196 |
999 | G>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs552217429 CA035574 RCV000688208 |
1000 | C>W | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001342983 rs1845088618 |
1000 | C>Y | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375367957 RCV000817135 rs1588288289 |
1002 | D>N | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001568881 RCV001169542 CA035584 RCV000229256 RCV000563268 rs202121327 |
1002 | D>V | Hereditary cancer-predisposing syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA375367938 rs1554812991 RCV002438384 RCV000548959 |
1003 | S>F | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs751970451 CA035614 RCV000570116 RCV001223273 |
1004 | M>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001228272 CA200925832 rs371879917 |
1004 | M>L | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs757370776 RCV000605673 CA035603 RCV001068166 RCV000574780 |
1004 | M>T | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000692962 RCV002440461 CA375367929 rs371879917 |
1004 | M>V | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001229131 rs1588288220 CA375367906 RCV001018061 |
1005 | V>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000819678 RCV001018065 rs1242948205 RCV001552544 CA375367890 |
1006 | G>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs764738792 RCV003139664 RCV000468231 CA035635 RCV000567330 |
1007 | H>Y | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs142954164 RCV001082367 CA007132 RCV000166118 RCV000733529 |
1008 | N>K | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1263094349 RCV000525091 CA375367854 RCV002316554 |
1008 | N>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs118203741 CA375367806 RCV000042262 CA007135 |
1010 | E>D | Malignant tumor of urinary bladder [ClinVar] | Yes |
ClinGen TOPMed ClinVar dbSNP |
|
rs796053449 CA319255 RCV000641967 RCV001018192 |
1011 | A>E | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000554535 CA375367789 rs764979889 |
1012 | S>P | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001303093 rs1020905743 |
1016 | G>C | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1313165721 CA375367719 RCV000525879 RCV002258952 RCV002506340 |
1016 | G>D | Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA200925723 RCV001308776 rs922638686 |
1017 | E>G | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1554812930 CA375367712 RCV002526920 RCV000567801 |
1017 | E>K | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000572644 RCV000467181 rs1060503214 CA16612441 |
1020 | T>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002447137 rs1845082733 RCV001226569 |
1021 | P>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845082733 RCV001300060 |
1021 | P>R | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845082934 RCV001060516 |
1021 | P>S | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000531464 CA375367614 rs1554812917 |
1023 | P>L | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000457246 rs138445573 CA035733 RCV002446833 |
1023 | P>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001050580 RCV002319654 rs1845081620 |
1025 | S>N | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1588287842 RCV001018493 CA915947221 |
1026 | A>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs533565295 RCV002319559 RCV000697123 CA200925687 |
1026 | A>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs533565295 RCV001018495 CA035755 RCV000424313 RCV000556341 |
1026 | A>T | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs796053461 CA375367546 RCV002319533 RCV000544888 |
1027 | R>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs796053461 RCV000233178 RCV001705063 CA319309 RCV000561979 COSM753314 |
1027 | R>Q | lung Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [Cosmic, NCI-TCGA, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA035767 RCV001018500 rs375394001 RCV001821552 RCV000532264 |
1027 | R>W | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1845080410 RCV001206596 |
1028 | G>D | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA319312 rs796053450 RCV000189858 RCV000557141 |
1029 | S>I | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000189824 RCV000803859 COSM1187840 rs796053450 RCV002321765 CA319258 |
1029 | S>N | lung Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV002319582 RCV000806425 rs1588287797 |
1030 | S>missing | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1588287783 RCV000804926 CA375367512 |
1030 | S>C | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001304357 RCV002322204 rs1845079425 |
1031 | G>E | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA035781 RCV002323742 RCV000462134 rs772043928 |
1031 | G>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA200925649 rs1015742388 CA200925644 RCV001228901 RCV002322105 |
1033 | R>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA007165 RCV000122196 RCV001080484 VAR_009413 RCV000130763 RCV000034609 RCV000297382 RCV000054850 rs118203742 |
1035 | G>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 1 no effect on expression; no effect on inhibition of TORC1 signaling [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA035815 rs774196458 RCV000564806 RCV000642049 |
1036 | G>E | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000820981 RCV002319906 CA375367424 rs1588287655 |
1036 | G>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000642001 rs768443391 CA035829 RCV000565729 |
1038 | S>G | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1060503196 CA375367388 RCV001229844 |
1038 | S>I | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002323743 CA16612560 rs1060503196 RCV000460336 |
1038 | S>N | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA375367378 RCV000562783 rs1490199228 RCV001342247 |
1039 | S>G | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA375367380 rs1490199228 RCV002320347 RCV001069522 |
1039 | S>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA16612559 RCV000465650 rs1060503204 |
1041 | S>G | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs753374839 RCV000225953 RCV002257479 RCV001705062 RCV000341814 CA035953 |
1041 | S>R | Hereditary cancer-predisposing syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000537868 rs2234980 |
1041 | S>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2234980 RCV002507386 RCV000801076 |
1041 | S>missing | Lymphangiomyomatosis Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002256021 RCV000042265 RCV000465677 RCV001703928 rs2234980 |
1042 | S>missing | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2234980 RCV000808043 RCV003166269 |
1042 | S>missing | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002322271 RCV001338499 rs1845075552 |
1042 | S>G | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001818461 RCV000189859 RCV001018741 CA035967 rs148931779 RCV001080753 |
1042 | S>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002321855 RCV000229859 CA10582622 rs148931779 RCV001589171 |
1042 | S>N | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001853804 CA375367311 RCV000564340 COSM1460741 rs1554812848 |
1043 | S>G | large_intestine Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001824583 RCV001080890 RCV002255261 RCV000054843 RCV000034610 rs2234980 |
1043 | S>missing | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000642071 RCV000054936 RCV002321550 rs2234980 |
1043 | S>missing | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_070662 | 1043 | S>del | TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling [UniProt] | Yes | UniProt |
|
RCV000189860 RCV002256098 CA319317 RCV001079866 rs796053462 |
1044 | E>K | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1588287475 RCV000797289 |
1044 | E>SIS | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs747162992 CA319263 RCV002321766 RCV000189826 RCV001852519 |
1045 | L>F | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs747162992 RCV001675952 RCV000684976 CA036003 RCV001018760 |
1045 | L>V | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1845071202 RCV001237008 |
1046 | S>F | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1197273 CA007195 RCV000545661 RCV001707532 RCV000122195 rs587778726 RCV002321603 |
1047 | T>I | lung Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV000641962 rs1203864892 RCV002499079 CA375367259 |
1048 | P>L | Lymphangiomyomatosis Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs397514831 RCV000054964 CA007200 RCV002321551 RCV001062290 |
1049 | E>D | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001018836 rs1588287285 CA375367229 |
1051 | P>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA375367231 rs1210523479 RCV000801259 |
1051 | P>S | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1588287238 CA375367194 RCV000802720 |
1054 | Q>R | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA375367179 rs1167652701 RCV000558171 RCV002258953 |
1055 | R>M | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000534056 rs587778727 CA007215 RCV000122197 RCV002321604 |
1057 | G>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA375367154 RCV001221179 RCV000999256 rs1588287204 |
1057 | G>V | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs112066743 RCV002256369 RCV000551227 CA375367153 RCV001578209 |
1058 | P>T | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs753263747 RCV001018981 RCV000468565 RCV003153637 CA036094 |
1059 | F>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1379924767 CA375367142 RCV000815344 |
1059 | F>L | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002325390 CA375367118 RCV000694102 rs1203493016 |
1061 | S>G | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000688515 rs1203493016 CA375367119 RCV003163122 |
1061 | S>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA036127 RCV000562217 RCV000527076 rs755396992 |
1062 | R>Q | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001093203 COSM264229 rs118203745 RCV000042266 RCV000563572 RCV000227692 RCV001167647 CA007223 RCV000189827 |
1062 | R>W | large_intestine Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) Tuberous sclerosis syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 1 [Cosmic, ClinVar, Ensembl] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001303839 rs1845063816 |
1063 | W>R | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs753388676 CA036145 RCV000535131 RCV002321767 RCV001705064 |
1065 | T>M | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA375367039 RCV001019199 rs1167362899 RCV000547456 |
1067 | M>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV003128745 rs1167362899 RCV001062113 |
1067 | M>T | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845061706 RCV002447352 RCV001319069 |
1069 | E>K | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16044438 rs1554812780 RCV000641957 |
1069 | E>V | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA375367005 rs1060503200 RCV000642052 |
1070 | A>G | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000470360 CA16612440 RCV002307508 RCV003168847 rs1060503200 COSM1106318 |
1070 | A>V | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome endometrium Tuberous sclerosis 1 [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001226856 rs1845060154 |
1072 | A>S | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA200925500 RCV000690055 RCV003163141 COSM1106317 rs779369226 |
1072 | A>V | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome endometrium Tuberous sclerosis 1 [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV002447103 rs1845059319 RCV001219772 |
1073 | S>G | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002256743 RCV001322625 rs1845058768 |
1075 | P>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001325094 rs1845058224 |
1076 | T>P | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001019417 RCV000475425 CA16612731 rs1060503191 |
1082 | P>A | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002323975 CA375366879 rs767439431 RCV000553116 |
1082 | P>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA319322 RCV000189862 rs796053463 RCV001857663 |
1084 | S>P | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1442514678 CA375366847 RCV001510606 RCV000564766 |
1085 | K>E | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001224547 RCV003166782 rs1845053380 RCV002504479 RCV001312966 |
1086 | S>R | Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845053005 RCV001351063 |
1088 | L>R | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000528961 rs762845573 RCV000566744 CA036274 |
1089 | G>A | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs762845573 CA036260 RCV000793677 |
1089 | G>D | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001216992 RCV001751408 RCV003163667 CA036285 rs776694051 |
1090 | M>V | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1845051123 RCV001060125 RCV002445314 |
1092 | A>G | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000793432 rs747053008 RCV001019566 CA036323 |
1092 | A>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001058682 rs747053008 |
1092 | A>T | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003169608 RCV001339923 rs1431256375 CA375366755 |
1093 | R>* | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000724617 CA007291 RCV000642039 rs550526986 |
1093 | R>Q | Tuberous sclerosis 1 (tsc1) Tuberous sclerosis 1 [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA375366745 rs1588286774 RCV001019642 |
1094 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001205944 rs1845049905 |
1094 | E>Q | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001019673 CA036377 rs779599439 RCV000189863 COSM455530 RCV001085451 |
1097 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome breast Tuberous sclerosis 1 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs118203750 CA007301 RCV001675599 RCV000042271 VAR_070663 RCV000541570 RCV000565824 |
1097 | R>H | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 no effect on expression; no effect on inhibition of TORC1 signaling [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001234950 rs1845048359 |
1098 | N>H | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001019746 CA375366696 rs1554812687 RCV001755840 RCV000553886 |
1098 | N>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000213461 RCV000799771 RCV001562491 rs876660132 CA10578822 |
1099 | K>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1845047652 RCV001323403 |
1100 | S>C | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs118203751 CA375366668 CA375366667 RCV001019818 |
1101 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV000530044 rs1554812661 CA375366674 RCV002456132 |
1101 | E>K | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002325614 rs1263464680 RCV000819759 CA375366663 RCV001759601 |
1102 | S>N | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA375366662 RCV001019826 rs1263464680 RCV000542328 |
1102 | S>T | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1474184918 RCV000562966 RCV001859978 CA375366652 |
1103 | Q>H | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000689537 CA375366654 rs1564469848 |
1103 | Q>R | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA319330 RCV000227853 RCV002321768 RCV000189871 rs796053467 |
1104 | C>F | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA375366646 RCV001218165 rs796053467 |
1104 | C>Y | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002323745 rs1060503226 RCV000474862 CA16612730 |
1107 | D>N | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001035281 RCV002320230 rs118203753 |
1108 | G>C | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000189829 RCV001019989 rs118203753 RCV000042274 CA007317 RCV000642032 VAR_009414 |
1108 | G>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV001222947 rs1845043593 |
1109 | M>I | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002320262 RCV001045909 rs1845043842 |
1109 | M>V | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs952996030 RCV000781917 CA200925363 RCV001856202 |
1110 | T>S | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000642003 rs1554812642 CA375366598 |
1111 | S>N | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001233093 rs1449696743 CA375366586 |
1113 | L>I | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001047141 rs1845042308 |
1113 | L>P | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001852173 rs764140399 CA007333 RCV000176367 |
1116 | S>N | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000530823 CA036590 RCV001020060 rs762641110 |
1117 | L>P | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA036612 RCV001731763 RCV000543231 RCV002323976 rs775420987 |
1119 | T>I | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1845040133 RCV001220572 |
1120 | E>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001220206 rs769478982 |
1121 | L>V | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001020100 RCV000692725 rs760918561 CA036652 |
1122 | G>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000230614 rs878853967 |
1123 | K>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001324337 rs1446630759 CA375366496 |
1126 | G>V | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001337430 rs1845037495 |
1127 | V>M | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845038227 RCV001240519 |
1128 | E>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs772233665 RCV000573969 CA036688 RCV000698607 |
1129 | A>V | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001020162 rs1588286388 |
1130 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845035929 RCV002451311 RCV001071260 |
1130 | K>N | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002453830 CA375366473 rs1588286359 RCV000810874 RCV002260669 |
1130 | K>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA375366459 rs1564469655 RCV002453870 RCV000818449 |
1132 | P>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002480737 RCV002451523 RCV001223518 CA375366460 rs1249897804 |
1132 | P>S | Lymphangiomyomatosis Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA375366451 rs1554812610 RCV000556565 |
1134 | N>H | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA007356 rs751398082 RCV000463228 RCV000164106 |
1136 | D>E | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002451279 CA375366434 rs1588286218 RCV001065275 |
1136 | D>G | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1845032228 RCV001048611 |
1137 | G>V | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001205610 RCV000602459 CA036822 RCV000574531 rs756449737 |
1138 | P>H | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs764018144 RCV000228446 RCV001020245 CA10582619 |
1139 | H>P | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA375366415 RCV001759703 RCV001020248 CA036855 RCV001209377 rs756737864 |
1139 | H>Q | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001307289 rs1845031012 RCV002456393 |
1139 | H>Y | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000460787 RCV001554985 CA036899 rs751126355 RCV001020253 |
1140 | P>L | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001020266 RCV000474187 rs1060503227 CA16612438 |
1142 | P>A | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA375366402 RCV002453808 RCV000807044 rs1060503227 |
1142 | P>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
COSM1460738 RCV000274136 RCV001081625 CA007363 RCV000034611 rs201867031 RCV000572666 |
1143 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome Isolated focal cortical dysplasia type II Tuberous sclerosis 1 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1845027394 RCV001232999 |
1144 | T>I | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001020297 rs773541137 RCV000792073 CA037053 |
1145 | P>A | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001020300 rs767904247 RCV000642019 CA037070 |
1145 | P>L | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 (tsc1) Tuberous sclerosis 1 [ClinVar, Ensembl] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1588285924 RCV000797296 |
1146 | D>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs397514806 RCV001069525 CA037104 |
1146 | D>H | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs397514806 RCV001234968 |
1146 | D>N | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001084718 CA007378 RCV000831184 rs397514806 RCV000054927 RCV001020306 VAR_070664 |
1146 | D>Y | Hereditary cancer-predisposing syndrome Tuberous sclerosis syndrome Tuberous sclerosis 1 TSC1; unknown pathological significance; no effect on expression; no effect on subcellular localization; no effect on inhibition of TORC1 signaling [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs768624733 RCV002458369 CA037114 RCV001349883 RCV000761141 |
1147 | S>G | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 Acute myeloid leukemia [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000641996 CA375366369 rs1554812551 |
1148 | V>I | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1845025560 RCV001206376 |
1149 | G>missing | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000642027 RCV002256433 RCV001548709 CA375366342 rs1554812543 |
1152 | H>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1845025129 RCV001327736 |
1152 | H>Y | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1845024693 RCV001207014 |
1153 | I>V | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs796053451 RCV000189830 RCV001020374 RCV000697883 CA319266 |
1157 | N>D | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001056513 RCV003160455 rs1845023976 |
1157 | N>S | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA375366290 RCV000641993 rs1216169846 |
1159 | T>P | Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1564469371 RCV002458267 CA375366273 RCV000698050 |
1161 | H>R | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA037138 rs749746550 RCV000689229 RCV000574109 |
1162 | E>D | Hereditary cancer-predisposing syndrome Tuberous sclerosis 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA375375421 rs1431850441 |
9 | E>G | No |
ClinGen TOPMed |
|
|
rs1588363616 CA375375412 |
10 | L>R | No |
ClinGen Ensembl |
|
|
CA375375401 rs1588363595 |
12 | A>G | No |
ClinGen Ensembl |
|
|
rs768147590 CA037422 |
13 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1189239082 CA375375370 |
17 | P>R | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 18 | M>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA200902499 rs762059806 |
18 | M>L | No |
ClinGen Ensembl |
|
|
CA375375359 rs1564504977 |
19 | L>Q | No |
ClinGen Ensembl |
|
|
rs886041959 RCV000275980 |
26 | T>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 26 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA200902497 rs980870206 |
34 | N>I | No |
ClinGen Ensembl |
|
|
RCV001090694 rs1846929742 |
38 | G>missing | No |
ClinVar dbSNP |
|
|
rs1588359822 RCV001009207 |
40 | M>missing | No |
ClinVar dbSNP |
|
|
rs974227401 CA200902340 |
40 | M>V | No |
ClinGen Ensembl |
|
|
rs777537794 CA027412 |
42 | V>L | No |
ClinGen ExAC |
|
| TCGA novel | 45 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1407267988 CA375375159 |
49 | Y>H | No |
ClinGen TOPMed |
|
|
CA375375147 rs1564503320 |
51 | E>Q | No |
ClinGen Ensembl |
|
|
CA375375124 rs1399121121 |
54 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 60 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1060503219 | 70 | K>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375374886 rs1588355896 |
71 | H>P | No |
ClinGen Ensembl |
|
|
rs759183842 CA031578 |
72 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs118203355 CA375374816 |
76 | I>S | No |
ClinGen TOPMed |
|
|
CA032818 rs76667066 |
83 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA033334 rs761717715 |
84 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1463772907 CA375374694 |
86 | R>C | No |
ClinGen gnomAD |
|
|
rs1241954690 CA375374686 |
87 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA375374635 rs118203361 |
91 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200902148 rs987344953 |
96 | V>I | No |
ClinGen TOPMed |
|
|
CA034975 rs138541569 |
97 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 102 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758924121 CA036015 |
105 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA375374338 rs1242311755 |
117 | L>V | No |
ClinGen gnomAD |
|
|
CA319278 RCV000189834 rs796053454 |
122 | M>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA037363 rs747251435 |
124 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA375373709 rs1243659943 |
126 | V>A | No |
ClinGen gnomAD |
|
|
CA375373655 rs1564499857 |
131 | T>P | No |
ClinGen Ensembl |
|
|
CA375373577 rs1416137360 |
136 | L>F | No |
ClinGen gnomAD |
|
|
CA375373552 rs1163879822 |
138 | T>N | No |
ClinGen gnomAD |
|
|
CA037494 rs780442112 |
139 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1195580419 CA375373442 |
145 | Q>H | No |
ClinGen gnomAD |
|
|
RCV000518417 rs1554819900 |
151 | L>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 151 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755791846 CA037542 |
152 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1554819896 RCV000516263 |
153 | D>missing | No |
ClinVar dbSNP |
|
|
rs1214441043 CA375373308 |
154 | F>L | No |
ClinGen gnomAD |
|
|
rs1353861668 CA375373180 |
164 | W>R | No |
ClinGen gnomAD |
|
|
CA037608 rs767215560 |
169 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA037937 rs751092692 |
172 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 174 | E>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762139762 CA038075 |
181 | H>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 183 | S>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 188 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_009398 | 190 | R>S | No | UniProt | |
|
rs118203403 RCV000482696 CA16618779 |
191 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000479822 rs1064796162 |
197 | C>missing | No |
ClinVar dbSNP |
|
|
CA200901149 rs865803458 |
199 | F>S | No |
ClinGen Ensembl |
|
| VAR_054389 | 206 | H>D | a bladder tumor; somatic mutation; reduced stability; does not affect interaction with TSC2 [UniProt] | No | UniProt |
|
rs1264782606 CA375372411 |
208 | S>N | No |
ClinGen TOPMed |
|
| TCGA novel | 211 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375372367 rs1405144688 |
211 | E>Q | No |
ClinGen gnomAD |
|
|
CA200901123 rs999904570 |
213 | L>V | No |
ClinGen Ensembl |
|
|
CA200901120 rs904190788 |
214 | E>D | No |
ClinGen Ensembl |
|
|
rs1323541164 CA375371683 VAR_054390 |
216 | F>L | a bladder tumor; diffuse punctate cytoplasmic distribution in aminoacid-starved conditions; does not affect interaction with TSC2 [UniProt] | No |
ClinGen UniProt Ensembl dbSNP |
|
rs1057518945 RCV000415178 |
220 | V>missing | No |
ClinVar dbSNP |
|
|
rs397514830 CA038378 |
220 | V>I | No |
ClinGen ExAC gnomAD |
|
|
RCV000713910 rs1564497826 CA375371617 |
221 | K>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs868715706 CA200901104 |
221 | K>N | Tuberous sclerosis 1 (tsc1) [Ensembl] | No |
ClinGen Ensembl |
|
rs1554819509 RCV000517201 |
222 | P>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 223 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA200900987 rs572899352 |
225 | E>K | No |
ClinGen gnomAD |
|
|
rs1259094395 CA375371475 |
226 | H>R | No |
ClinGen gnomAD |
|
|
CA375371459 rs1264542706 |
227 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 233 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs397514816 CA375371312 |
238 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 239 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1342213631 CA375371274 |
240 | H>R | No |
ClinGen gnomAD |
|
|
rs1232152905 CA375369670 |
252 | T>S | No |
ClinGen gnomAD |
|
|
CA375369629 rs1371866139 |
255 | V>L | No |
ClinGen gnomAD |
|
|
rs904536011 CA200894955 |
256 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA038867 rs745640752 |
257 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1191767597 CA375369584 |
259 | C>S | No |
ClinGen gnomAD |
|
|
CA038921 rs758617649 |
260 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs779015004 CA038950 |
262 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA200894912 rs867279664 |
266 | P>S | No |
ClinGen Ensembl |
|
| TCGA novel | 268 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753895570 CA375369463 |
268 | E>D | No |
ClinGen ExAC |
|
|
rs878853968 RCV001090693 |
270 | S>* | No |
ClinVar dbSNP |
|
|
CA039075 rs768057796 |
273 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs2106347 CA200894858 |
273 | D>Y | No |
ClinGen Ensembl |
|
|
rs1389310342 CA375369390 |
274 | G>S | No |
ClinGen gnomAD |
|
| rs118203455 | 279 | H>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1467020958 CA375369316 |
279 | H>Y | No |
ClinGen gnomAD |
|
|
rs1394961527 CA375369295 |
280 | Q>R | No |
ClinGen gnomAD |
|
|
rs886041977 RCV000267199 |
284 | R>missing | No |
ClinVar dbSNP |
|
|
CA375369241 rs151309813 |
284 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA200894764 rs973115696 |
295 | S>R | No |
ClinGen TOPMed |
|
|
rs370916731 CA375369032 |
300 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1389512342 CA375369017 |
301 | Q>L | No |
ClinGen TOPMed |
|
|
RCV001311801 rs1846003590 |
302 | N>missing | No |
ClinVar dbSNP |
|
|
CA375368974 rs1588326467 |
304 | Y>N | No |
ClinGen Ensembl |
|
|
rs34876281 CA200894472 |
306 | C>G | No |
ClinGen Ensembl |
|
|
rs34610255 CA200894469 |
306 | C>W | No |
ClinGen Ensembl |
|
|
rs1588324803 CA375368720 |
312 | Y>F | No |
ClinGen Ensembl |
|
|
CA375368705 rs1332978347 |
315 | S>C | No |
ClinGen gnomAD |
|
|
rs1392501159 CA375368694 |
318 | M>V | No |
ClinGen gnomAD |
|
|
rs781189978 CA039955 |
323 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs781189978 CA375368656 |
323 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA375368645 rs118203474 |
325 | Q>E | Tuberous sclerosis 1 (tsc1) [Ensembl] | No |
ClinGen gnomAD |
|
rs757779597 CA039967 |
326 | L>P | No |
ClinGen ExAC gnomAD |
|
|
RCV000481025 rs118203478 |
330 | L>* | No |
ClinVar dbSNP |
|
|
CA375368606 rs1588324325 |
330 | L>Q | No |
ClinGen Ensembl |
|
|
rs1304291054 CA375368408 |
342 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 345 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA200894150 rs757404847 |
351 | M>I | No |
ClinGen Ensembl |
|
| TCGA novel | 361 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1554817252 | 362 | P>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 363 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375367447 rs1452358293 |
371 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1554817227 RCV000517910 |
376 | V>missing | No |
ClinVar dbSNP |
|
|
CA375367313 rs1158970076 |
378 | G>D | No |
ClinGen TOPMed |
|
|
rs1474530013 CA375367320 |
378 | G>S | No |
ClinGen gnomAD |
|
|
CA375367222 rs1460150475 |
382 | G>V | No |
ClinGen gnomAD |
|
|
RCV000523562 rs1554817164 |
386 | T>missing | No |
ClinVar dbSNP |
|
|
CA027193 rs764150061 |
387 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs886041524 RCV000382479 CA10603158 |
389 | G>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1195528624 CA375367117 |
391 | P>T | No |
ClinGen gnomAD |
|
|
CA027231 rs761014195 |
399 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554817140 RCV000598822 |
401 | C>missing | No |
ClinVar dbSNP |
|
|
rs761890555 CA027273 |
401 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs1374241313 CA375366878 |
408 | H>Y | No |
ClinGen TOPMed |
|
|
rs1474143751 CA375366858 |
409 | I>S | No |
ClinGen TOPMed |
|
|
rs1564487289 CA375366844 |
410 | S>L | No |
ClinGen Ensembl |
|
|
rs1299083190 CA375366852 |
410 | S>T | No |
ClinGen gnomAD |
|
|
CA375366791 rs1175607955 |
415 | T>A | No |
ClinGen gnomAD |
|
|
CA375366767 rs1320206988 |
417 | T>S | No |
ClinGen TOPMed |
|
|
CA200893799 rs997339959 |
418 | P>L | No |
ClinGen TOPMed gnomAD |
|
| rs118203506 | 420 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs118203506 | 420 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1272450087 COSM1582790 CA375366218 |
423 | E>D | stomach [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| rs118203509 | 424 | R>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 432 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375366149 rs1418663559 |
434 | R>G | No |
ClinGen TOPMed |
|
|
rs985183299 CA200889990 |
437 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 443 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375366082 rs1467702182 |
444 | S>T | No |
ClinGen TOPMed |
|
|
rs1410493156 CA375366052 |
446 | E>D | No |
ClinGen gnomAD |
|
|
rs1325064558 CA375365998 |
455 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs951262640 CA200889600 |
458 | D>G | No |
ClinGen Ensembl |
|
|
rs140953644 CA375365963 |
461 | G>A | No |
ClinGen gnomAD |
|
|
RCV000478998 rs1064796237 |
462 | F>* | No |
ClinVar dbSNP |
|
| rs1064796237 | 463 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769529472 CA028522 |
464 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs745697913 CA028539 |
473 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA375365765 rs1393065957 |
478 | E>K | No |
ClinGen gnomAD |
|
|
CA375365635 rs1286203166 |
480 | A>V | No |
ClinGen gnomAD |
|
|
RCV000189867 rs796053466 |
481 | A>missing | No |
ClinVar dbSNP |
|
|
rs775367219 CA028806 |
481 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1064793693 RCV000482362 |
482 | I>* | No |
ClinVar dbSNP |
|
|
CA028850 rs745657743 |
493 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA375365381 rs1249690610 |
499 | P>L | No |
ClinGen TOPMed |
|
|
RCV000189875 rs796053470 |
504 | D>* | No |
ClinVar dbSNP |
|
|
CA375365321 rs1411711162 |
504 | D>Y | No |
ClinGen gnomAD |
|
|
RCV000598967 rs1554816029 |
512 | L>missing | No |
ClinVar dbSNP |
|
|
CA375365197 rs1258758207 |
512 | L>P | No |
ClinGen gnomAD |
|
|
CA029005 rs749410972 |
515 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA375365040 rs1588310634 |
524 | S>P | No |
ClinGen Ensembl |
|
|
rs1554815996 RCV000613044 CA375364988 |
526 | S>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1588310457 CA375364853 |
532 | N>T | No |
ClinGen Ensembl |
|
|
rs1419023919 CA375364781 |
534 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA375364775 rs1235168127 |
535 | P>A | No |
ClinGen TOPMed |
|
|
RCV001090690 rs1845643427 |
537 | H>R | No |
ClinVar dbSNP |
|
| TCGA novel | 537 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1464618848 CA375364558 |
545 | P>L | No |
ClinGen gnomAD |
|
|
rs774671298 CA029277 |
546 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs769040084 CA029286 |
547 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA375364470 rs118203553 |
550 | Q>* | Tuberous sclerosis 1 (tsc1) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
CA029323 rs780338343 |
551 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1295674928 CA375364393 |
554 | P>S | No |
ClinGen gnomAD |
|
|
rs1064796040 RCV000483843 CA16618770 |
557 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1064794760 RCV000484921 |
566 | P>missing | No |
ClinVar dbSNP |
|
|
RCV000483616 rs397514777 |
568 | G>missing | No |
ClinVar dbSNP |
|
|
rs796053471 RCV000189876 |
571 | E>missing | No |
ClinVar dbSNP |
|
|
rs1172716547 CA375364060 |
571 | E>K | No |
ClinGen TOPMed |
|
|
CA029525 rs758107610 |
572 | C>R | No |
ClinGen ExAC |
|
|
CA029557 rs118203565 |
573 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs886041684 RCV000367211 |
576 | L>missing | No |
ClinVar dbSNP |
|
|
rs868368113 CA200888565 |
576 | L>F | No |
ClinGen Ensembl |
|
|
COSM48824 rs902419565 CA200888421 |
590 | P>S | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1260640194 CA375363552 |
596 | F>L | No |
ClinGen TOPMed |
|
|
rs1197000274 CA375363502 |
598 | S>G | No |
ClinGen gnomAD |
|
|
rs1469361343 CA375363481 |
598 | S>N | No |
ClinGen TOPMed |
|
|
COSM1106326 rs1392416235 CA375363094 |
620 | V>A | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1409758280 CA375363091 |
621 | I>L | No |
ClinGen gnomAD |
|
|
CA375363082 rs1349094627 |
621 | I>T | No |
ClinGen gnomAD |
|
|
CA375362975 rs1171110012 |
627 | L>V | No |
ClinGen gnomAD |
|
|
rs1471587230 CA375362834 |
633 | G>R | No |
ClinGen gnomAD |
|
|
CA030069 rs575639692 |
637 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA030169 rs368016548 |
643 | T>I | No |
ClinGen ESP ExAC |
|
|
CA375362538 rs1171512070 |
647 | E>Q | Tuberous sclerosis 1 (tsc1) [Ensembl] | No |
ClinGen gnomAD |
| TCGA novel | 653 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1246161639 CA375362384 |
654 | Q>L | No |
ClinGen gnomAD |
|
|
CA375362285 rs1177199080 |
661 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1554815476 RCV000523514 |
667 | L>missing | No |
ClinVar dbSNP |
|
|
CA030574 rs772603060 |
668 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA200887502 rs754679411 |
670 | P>R | No |
ClinGen Ensembl |
|
|
rs1475481061 CA375361435 |
671 | S>G | No |
ClinGen gnomAD |
|
|
CA030597 rs748487106 |
672 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA200887496 rs865808591 |
673 | S>P | No |
ClinGen Ensembl |
|
|
CA375361301 rs1167005895 |
675 | D>E | No |
ClinGen TOPMed |
|
|
rs768189353 CA030660 |
675 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1321298515 CA375361132 |
687 | E>D | No |
ClinGen TOPMed |
|
|
RCV000412759 rs1057517842 |
702 | L>missing | No |
ClinVar dbSNP |
|
|
RCV000342164 TCGA novel rs886042012 CA10603025 |
707 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ClinVar Ensembl dbSNP |
|
CA375360999 rs1328198866 |
708 | K>N | No |
ClinGen gnomAD |
|
|
rs1228730273 CA375361001 |
708 | K>R | No |
ClinGen gnomAD |
|
|
rs1286421874 CA375360931 |
713 | A>G | No |
ClinGen gnomAD |
|
|
RCV000993360 rs1588303969 |
718 | R>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 718 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000261838 rs886041456 |
719 | L>missing | No |
ClinVar dbSNP |
|
|
rs1588303890 RCV000993361 |
721 | R>missing | No |
ClinVar dbSNP |
|
|
CA375360786 rs1588303807 |
723 | V>G | No |
ClinGen Ensembl |
|
|
CA319301 RCV000189854 rs796053459 |
724 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA200886645 rs953194928 |
725 | K>E | No |
ClinGen TOPMed |
|
|
rs1368576380 CA375360758 |
725 | K>R | No |
ClinGen TOPMed |
|
|
rs1588303613 CA375360582 |
734 | A>V | No |
ClinGen Ensembl |
|
|
rs746535706 CA031723 |
735 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA375360575 rs770518730 |
735 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs770518730 CA031711 |
735 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1350928783 CA375360136 |
738 | D>G | No |
ClinGen gnomAD |
|
|
CA375360112 rs1186305034 |
739 | Q>H | No |
ClinGen TOPMed |
|
|
CA375359967 rs1392095786 |
747 | I>T | No |
ClinGen gnomAD |
|
|
CA375359927 rs1189517650 |
749 | M>I | No |
ClinGen gnomAD |
|
|
rs1206598804 CA375359933 |
749 | M>T | No |
ClinGen gnomAD |
|
|
rs1064794504 RCV000482635 |
765 | Q>missing | No |
ClinVar dbSNP |
|
|
RCV000999258 rs118203673 CA375359709 |
765 | Q>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA375359559 rs1295892331 |
773 | T>N | No |
ClinGen gnomAD |
|
|
CA032110 rs772652234 |
773 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA032176 rs774284355 |
783 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs768390011 CA032196 |
784 | H>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 791 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1588301140 CA375359065 |
794 | Q>H | No |
ClinGen Ensembl |
|
| TCGA novel | 800 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1295965297 CA375358777 |
801 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 805 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA032613 rs756514375 |
808 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA375358626 rs1301298332 |
810 | L>V | No |
ClinGen gnomAD |
|
|
CA200885153 rs1014587956 |
818 | N>K | No |
ClinGen Ensembl |
|
| TCGA novel | 821 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs118203694 | 822 | C>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375358291 rs1210166560 |
826 | L>Q | No |
ClinGen gnomAD |
|
|
rs886039735 RCV000255937 |
829 | S>missing | No |
ClinVar dbSNP |
|
|
CA032864 rs773279842 |
831 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 841 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1343088775 CA375370287 |
841 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1447417010 CA375370278 |
842 | Q>E | No |
ClinGen TOPMed |
|
|
CA033399 rs749414404 |
843 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1428440954 CA375370228 |
845 | M>I | No |
ClinGen gnomAD |
|
|
CA375370163 rs1371334608 |
850 | R>G | No |
ClinGen TOPMed |
|
|
rs993039009 CA200929116 |
853 | L>S | No |
ClinGen Ensembl |
|
|
CA033455 rs746215028 |
854 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1588297288 CA375370050 |
858 | V>G | No |
ClinGen Ensembl |
|
|
rs1169898186 CA375370027 |
860 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs938511038 CA200929050 |
868 | N>D | No |
ClinGen TOPMed |
|
|
CA200929014 rs78260659 |
875 | K>Q | No |
ClinGen 1000Genomes |
|
|
rs1199715724 CA375369727 |
876 | E>V | No |
ClinGen gnomAD |
|
|
CA375369716 rs1321117036 |
877 | V>L | No |
ClinGen gnomAD |
|
|
CA375369708 rs1290215290 |
878 | E>K | No |
ClinGen gnomAD |
|
|
RCV001008761 rs1588291118 |
880 | M>missing | No |
ClinVar dbSNP |
|
|
rs1057520444 RCV000425755 CA16605392 |
881 | K>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA375369610 rs1554813568 RCV000658376 |
886 | K>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1488711359 CA375369589 |
887 | E>D | No |
ClinGen TOPMed |
|
|
rs763169786 CA034154 |
887 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA034169 rs775589156 |
889 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs765314309 CA034183 |
889 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA200926746 rs543892243 |
890 | K>E | No |
ClinGen 1000Genomes |
|
|
rs759567710 CA034208 |
890 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1196128839 CA375369535 |
891 | N>K | No |
ClinGen TOPMed |
|
| rs118203724 | 891 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772324460 CA034305 |
897 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 897 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 900 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 901 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375369408 rs1281554383 |
902 | L>F | No |
ClinGen gnomAD |
|
|
rs1229582901 CA375369400 |
903 | D>H | No |
ClinGen gnomAD |
|
|
CA375369364 rs1588290647 |
906 | Q>P | No |
ClinGen Ensembl |
|
| TCGA novel | 909 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA034427 rs756176990 |
910 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs750238092 CA034450 |
913 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA034516 rs781076347 |
916 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA375369246 rs397514873 |
917 | A>T | Tuberous sclerosis 1 (tsc1) [Ensembl] | No |
ClinGen TOPMed |
|
rs1011595359 CA200926598 |
922 | L>V | No |
ClinGen TOPMed |
|
|
rs1845139251 RCV001093204 |
924 | L>missing | No |
ClinVar dbSNP |
|
|
CA375369135 rs1407221642 |
926 | Q>P | No |
ClinGen gnomAD |
|
|
CA375369018 rs1172586020 |
935 | L>F | No |
ClinGen gnomAD |
|
|
rs781023778 CA034760 |
943 | A>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 944 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA034806 rs779185959 |
945 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA375368880 rs1437157688 |
949 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA375368834 rs1554813331 RCV000657714 |
956 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs762213436 CA034941 |
966 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1006963290 CA200926410 |
967 | G>S | No |
ClinGen Ensembl |
|
|
rs768350176 CA035012 |
969 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA375368571 rs1372477238 |
970 | E>G | No |
ClinGen gnomAD |
|
|
CA200926400 rs775179927 |
972 | D>E | No |
ClinGen Ensembl |
|
|
CA375368483 rs796053448 |
976 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1428571414 CA375368443 |
977 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 977 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA375368389 rs557674294 |
980 | E>D | No |
ClinGen gnomAD |
|
|
CA200926363 rs867884507 |
987 | E>A | No |
ClinGen Ensembl |
|
|
rs1239372124 CA375368245 |
988 | A>V | No |
ClinGen TOPMed |
|
|
rs972249980 CA200926345 |
990 | E>A | No |
ClinGen TOPMed |
|
|
rs758199199 CA035177 |
991 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1177810382 CA375368095 |
993 | L>I | No |
ClinGen TOPMed |
|
|
CA375368084 rs1261409901 |
993 | L>P | No |
ClinGen gnomAD |
|
|
CA035429 rs78868727 |
994 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA035537 rs756384645 |
1000 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs1451084728 CA375367966 |
1001 | S>P | No |
ClinGen gnomAD |
|
|
rs1182078270 CA375367886 |
1006 | G>E | No |
ClinGen gnomAD |
|
|
rs1267230279 CA375367811 |
1010 | E>G | No |
ClinGen gnomAD |
|
|
CA035700 rs764979889 |
1012 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1020905743 CA200925748 |
1016 | G>S | No |
ClinGen TOPMed |
|
|
rs1326803649 CA375367701 |
1017 | E>D | No |
ClinGen gnomAD |
|
|
CA375367681 rs1317622700 |
1019 | K>E | No |
ClinGen gnomAD |
|
|
rs1588287982 CA375367663 |
1020 | T>P | No |
ClinGen Ensembl |
|
|
rs1392262248 CA375367631 |
1022 | R>T | No |
ClinGen gnomAD |
|
|
CA375367621 rs138445573 |
1023 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA200925683 rs566430298 |
1026 | A>V | No |
ClinGen 1000Genomes |
|
|
rs1564470488 CA375367502 |
1030 | S>N | No |
ClinGen Ensembl |
|
| TCGA novel | 1032 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA200925639 rs1034398735 |
1034 | G>D | No |
ClinGen TOPMed |
|
|
CA375367430 rs1176815392 |
1035 | G>D | No |
ClinGen TOPMed |
|
|
CA200925628 rs952963572 |
1037 | G>S | No |
ClinGen Ensembl |
|
|
CA375367382 rs1588287598 |
1038 | S>R | No |
ClinGen Ensembl |
|
|
RCV000593617 rs1588287451 |
1044 | E>missing | No |
ClinVar dbSNP |
|
|
CA375367262 rs1436122561 |
1048 | P>S | No |
ClinGen TOPMed |
|
|
CA375367238 rs1588287298 |
1050 | K>N | No |
ClinGen Ensembl |
|
|
CA200925558 rs778413037 |
1053 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1309531545 CA375367207 |
1053 | H>R | No |
ClinGen gnomAD |
|
|
rs587778725 CA007210 RCV000122194 |
1057 | G>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA200925542 rs112066743 |
1058 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA375366960 rs1235657856 |
1074 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs910432382 CA200925448 |
1079 | G>R | No |
ClinGen Ensembl |
|
|
CA036210 rs767439431 |
1082 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs774286125 CA036242 |
1086 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA036301 rs771241484 |
1090 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs550526986 CA375366752 |
1093 | R>P | Tuberous sclerosis 1 (tsc1) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs761334590 CA036531 |
1112 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1118 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA200925335 rs761577419 |
1131 | I>L | No |
ClinGen Ensembl |
|
|
rs1400958818 CA375366466 |
1131 | I>N | No |
ClinGen TOPMed |
|
|
CA375366458 rs1564469655 |
1132 | P>R | No |
ClinGen Ensembl |
|
|
rs1344689860 CA375366405 |
1141 | S>C | No |
ClinGen gnomAD |
|
|
rs1207133391 CA375366399 |
1142 | P>L | No |
ClinGen TOPMed |
|
|
CA036962 rs574823234 |
1143 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA375366289 rs1216169846 |
1159 | T>S | No |
ClinGen gnomAD |
|
|
rs1470270925 CA375366283 |
1160 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA375366265 rs1219781302 |
1162 | E>G | No |
ClinGen gnomAD |
|
|
rs1298096737 CA375366253 |
1164 | S>G | No |
ClinGen gnomAD |
|
|
CA375366246 rs1215693002 |
1165 | S>Q | No |
ClinGen gnomAD |
3 associated diseases with Q92574
[MIM: 191100]: Tuberous sclerosis 1 (TSC1)
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:10227394, ECO:0000269|PubMed:10533069, ECO:0000269|PubMed:10570911, ECO:0000269|PubMed:10874311, ECO:0000269|PubMed:11829138, ECO:0000269|PubMed:18830229, ECO:0000269|PubMed:22161988, ECO:0000269|PubMed:9328481}. 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: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:10227394, ECO:0000269|PubMed:10533069, ECO:0000269|PubMed:10570911, ECO:0000269|PubMed:10874311, ECO:0000269|PubMed:11829138, ECO:0000269|PubMed:18830229, ECO:0000269|PubMed:22161988, ECO:0000269|PubMed:9328481}. 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: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
No regional properties for Q92574
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q92574 | |||
Functions
15 GO annotations of cellular component
| Name | Definition |
|---|---|
| cell cortex | The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins. |
| chaperone complex | A protein complex required for the non-covalent folding or unfolding, maturation, stabilization or assembly or disassembly of macromolecular structures. Usually active during or immediately after completion of translation. Many chaperone complexes contain heat shock proteins. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoskeleton | A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| growth cone | The migrating motile tip of a growing neuron projection, where actin accumulates, and the actin cytoskeleton is the most dynamic. |
| lamellipodium | A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments. |
| lipid droplet | An intracellular non-membrane-bounded organelle comprising a matrix of coalesced lipids surrounded by a phospholipid monolayer. May include associated proteins. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| 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. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
| 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. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATPase inhibitor activity | Binds to and stops, prevents or reduces an ATP hydrolysis activity. |
| chaperone binding | Binding to a chaperone protein, a class of proteins that bind to nascent or unfolded polypeptides and ensure correct folding or transport. |
| GTPase activating protein binding | Binding to a GTPase activating protein. |
| Hsp70 protein binding | Binding to a Hsp70 protein, heat shock proteins around 70kDa in size. |
| Hsp90 protein binding | Binding to Hsp90 proteins, any of a group of heat shock proteins around 90kDa in size. |
| protein N-terminus binding | Binding to a protein N-terminus, the end of any peptide chain at which the 2-amino (or 2-imino) function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue. |
| protein-containing complex binding | Binding to a macromolecular complex. |
40 GO annotations of biological process
| Name | Definition |
|---|---|
| activation of GTPase activity | Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP. |
| adaptive immune response | An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory). |
| adult locomotory behavior | Locomotory behavior in a fully developed and mature organism. |
| associative learning | Learning by associating a stimulus (the cause) with a particular outcome (the effect). |
| cardiac muscle cell differentiation | The process in which a cardiac muscle precursor cell acquires specialized features of a cardiac muscle cell. Cardiac muscle cells are striated muscle cells that are responsible for heart contraction. |
| cell population proliferation | The multiplication or reproduction of cells, resulting in the expansion of a cell population. |
| cell projection organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a prolongation or process extending from a cell, e.g. a flagellum or axon. |
| cell-matrix adhesion | The binding of a cell to the extracellular matrix via adhesion molecules. |
| cellular response to oxygen-glucose deprivation | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of the deprivation of oxygen and glucose. |
| cerebral cortex development | The progression of the cerebral cortex over time from its initial formation until its mature state. The cerebral cortex is the outer layered region of the telencephalon. |
| glucose import | The directed movement of the hexose monosaccharide glucose into a cell or organelle. |
| hippocampus development | The progression of the hippocampus over time from its initial formation until its mature state. |
| kidney development | The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and/or excretes the end products of body metabolism in the form of urine. |
| memory T cell differentiation | The process in which a newly activated T cell acquires specialized features of a memory T cell. |
| myelination | The process in which myelin sheaths are formed and maintained around neurons. Oligodendrocytes in the brain and spinal cord and Schwann cells in the peripheral nervous system wrap axons with compact layers of their plasma membrane. Adjacent myelin segments are separated by a non-myelinated stretch of axon called a node of Ranvier. |
| negative regulation of ATP-dependent activity | Any process that stops or reduces the rate of an ATP-dependent activity. |
| negative regulation of cell population proliferation | Any process that stops, prevents or reduces the rate or extent of cell proliferation. |
| negative regulation of cell size | Any process that reduces cell size. |
| negative regulation of GTPase activity | Any process that stops or reduces the rate of GTP hydrolysis by a GTPase. |
| negative regulation of macroautophagy | Any process that stops, prevents, or reduces the frequency, rate or extent of macroautophagy. |
| negative regulation of neuron projection development | Any process that decreases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| negative regulation of oxidative stress-induced neuron death | Any process that stops, prevents or reduces the frequency, rate or extent of oxidative stress-induced neuron death. |
| negative regulation of TOR signaling | Any process that stops, prevents, or reduces the frequency, rate or extent of TOR signaling. |
| negative regulation of translation | Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. |
| 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 regulation of focal adhesion assembly | Any process that activates or increases the frequency, rate or extent of focal adhesion assembly, the establishment and maturation of focal adhesions. |
| 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. |
| positive regulation of stress fiber assembly | Any process that activates or increases the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts. |
| potassium ion transport | The directed movement of potassium ions (K+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| protein stabilization | Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation. |
| regulation of cell cycle | Any process that modulates the rate or extent of progression through the cell cycle. |
| regulation of cell-matrix adhesion | Any process that modulates the frequency, rate or extent of attachment of a cell to the extracellular matrix. |
| regulation of neuron death | Any process that modulates the frequency, rate or extent of neuron death. |
| regulation of phosphoprotein phosphatase activity | Any process that modulates the frequency, rate or extent of phosphoprotein phosphatase activity, the catalysis of the hydrolysis of phosphate from a phosphoprotein. |
| regulation of protein kinase activity | Any process that modulates the frequency, rate or extent of protein kinase activity. |
| regulation of stress fiber assembly | Any process that modulates the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts. |
| regulation of translation | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. |
| response to insulin | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. |
| rRNA export from nucleus | The directed movement of rRNA from the nucleus to the cytoplasm; the rRNA is usually in the form of ribonucleoproteins. |
| synapse organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a synapse, the junction between a neuron and a target (neuron, muscle, or secretory cell). |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAQQANVGEL | LAMLDSPMLG | VRDDVTAVFK | ENLNSDRGPM | LVNTLVDYYL | ETSSQPALHI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LTTLQEPHDK | HLLDRINEYV | GKAATRLSIL | SLLGHVIRLQ | PSWKHKLSQA | PLLPSLLKCL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KMDTDVVVLT | TGVLVLITML | PMIPQSGKQH | LLDFFDIFGR | LSSWCLKKPG | HVAEVYLVHL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| HASVYALFHR | LYGMYPCNFV | SFLRSHYSMK | ENLETFEEVV | KPMMEHVRIH | PELVTGSKDH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ELDPRRWKRL | ETHDVVIECA | KISLDPTEAS | YEDGYSVSHQ | ISARFPHRSA | DVTTSPYADT |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QNSYGCATST | PYSTSRLMLL | NMPGQLPQTL | SSPSTRLITE | PPQATLWSPS | MVCGMTTPPT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SPGNVPPDLS | HPYSKVFGTT | AGGKGTPLGT | PATSPPPAPL | CHSDDYVHIS | LPQATVTPPR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KEERMDSARP | CLHRQHHLLN | DRGSEEPPGS | KGSVTLSDLP | GFLGDLASEE | DSIEKDKEEA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| AISRELSEIT | TAEAEPVVPR | GGFDSPFYRD | SLPGSQRKTH | SAASSSQGAS | VNPEPLHSSL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DKLGPDTPKQ | AFTPIDLPCG | SADESPAGDR | ECQTSLETSI | FTPSPCKIPP | PTRVGFGSGQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PPPYDHLFEV | ALPKTAHHFV | IRKTEELLKK | AKGNTEEDGV | PSTSPMEVLD | RLIQQGADAH |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SKELNKLPLP | SKSVDWTHFG | GSPPSDEIRT | LRDQLLLLHN | QLLYERFKRQ | QHALRNRRLL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| RKVIKAAALE | EHNAAMKDQL | KLQEKDIQMW | KVSLQKEQAR | YNQLQEQRDT | MVTKLHSQIR |
| 790 | 800 | 810 | 820 | 830 | 840 |
| QLQHDREEFY | NQSQELQTKL | EDCRNMIAEL | RIELKKANNK | VCHTELLLSQ | VSQKLSNSES |
| 850 | 860 | 870 | 880 | 890 | 900 |
| VQQQMEFLNR | QLLVLGEVNE | LYLEQLQNKH | SDTTKEVEMM | KAAYRKELEK | NRSHVLQQTQ |
| 910 | 920 | 930 | 940 | 950 | 960 |
| RLDTSQKRIL | ELESHLAKKD | HLLLEQKKYL | EDVKLQARGQ | LQAAESRYEA | QKRITQVFEL |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| EILDLYGRLE | KDGLLKKLEE | EKAEAAEAAE | ERLDCCNDGC | SDSMVGHNEE | ASGHNGETKT |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| PRPSSARGSS | GSRGGGGSSS | SSSELSTPEK | PPHQRAGPFS | SRWETTMGEA | SASIPTTVGS |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| LPSSKSFLGM | KARELFRNKS | ESQCDEDGMT | SSLSESLKTE | LGKDLGVEAK | IPLNLDGPHP |
| 1150 | 1160 | ||||
| SPPTPDSVGQ | LHIMDYNETH | HEHS |