Q8NFG4
PR
Gene name |
FLCN |
Protein name |
Folliculin |
Names |
BHD skin lesion fibrofolliculoma protein, Birt-Hogg-Dube syndrome protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:201163 |
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
5 structures for Q8NFG4
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 3V42 | X-ray | 200 A | A/B | 341-566 | PDB |
| 6NZD | EM | 360 A | H | 1-579 | PDB |
| 6ULG | EM | 331 A | L | 1-579 | PDB |
| 8DHB | EM | 353 A | J | 1-579 | PDB |
| AF-Q8NFG4-F1 | Predicted | AlphaFoldDB |
810 variants for Q8NFG4
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1131690838 RCV000492164 |
1 | M>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000239708 rs879255658 |
1 | M>I | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2047316806 RCV001295990 |
1 | M>V | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398535516 RCV000635529 RCV002477399 rs1555611575 RCV001124934 RCV002424394 |
4 | I>V | Familial spontaneous pneumothorax Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8416539 rs767235709 RCV001210622 RCV002393478 RCV003117845 |
5 | V>M | Multiple fibrofolliculomas Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001012800 rs1597618627 |
6 | A>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060502373 CA16615133 RCV000461258 |
9 | H>R | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000578955 CA398535464 RCV000696880 RCV000492609 rs754616167 |
11 | C>* | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA398535469 rs879255659 RCV000817471 |
11 | C>G | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs879255659 RCV000239640 CA10586273 |
11 | C>S | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001297304 rs754616167 RCV001812962 |
11 | C>W | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs751171641 CA8416537 RCV001315894 |
12 | E>K | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001022425 RCV001298715 CA8416535 rs539468848 |
15 | G>S | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002339686 rs1597618496 RCV001246982 CA398535433 |
16 | P>L | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001197006 RCV000485925 RCV000494484 RCV000989762 rs758385503 |
17 | R>missing | Multiple fibrofolliculomas Potocki-Lupski syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000492625 rs1131690839 |
17 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8416531 RCV002268296 rs761993256 RCV000805665 |
18 | T>A | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs2047314194 RCV001331744 |
18 | T>A | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2047314341 RCV001243119 |
18 | T>I | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001221879 RCV001776150 rs761993256 |
18 | T>P | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2047313909 RCV001055395 |
19 | L>P | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000239668 RCV000213153 RCV000256007 rs876658390 |
20 | F>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398535414 rs1555611550 RCV000562808 RCV000535153 |
20 | F>Y | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA288320819 RCV001025105 rs1025567379 RCV000804774 RCV001766672 |
21 | C>Y | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000574639 rs768734584 RCV000456284 CA8416529 RCV001574874 |
22 | T>M | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8416527 RCV001040382 rs775626774 RCV002363572 |
24 | V>L | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001341903 rs2047312815 |
25 | L>P | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002481910 rs779449668 CA398535371 RCV002416361 RCV001044211 |
27 | A>S | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8416523 RCV001346690 rs757670898 |
27 | A>V | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8416521 RCV001017707 rs780588085 RCV000466986 |
28 | P>R | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003151763 RCV000229497 CA8416522 RCV001027381 rs749758787 RCV002500821 RCV000380278 |
28 | P>S | Familial spontaneous pneumothorax Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs150051278 RCV001220594 RCV002447108 |
29 | L>H | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs150051278 RCV001556472 RCV002369833 CA8416519 RCV002485606 RCV000687044 |
29 | L>P | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1597618162 RCV001018999 CA398535352 |
31 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001019544 RCV000121100 RCV001062369 rs587778366 CA159764 |
32 | G>E | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8416515 RCV000816744 rs375348725 RCV001019971 |
33 | D>E | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA215939 RCV002513341 rs386833401 RCV001019769 RCV000034798 |
33 | D>H | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000635568 RCV000222636 CA10580176 rs386833401 |
33 | D>Y | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2047310577 RCV001206380 RCV002436794 |
34 | G>R | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2047310284 RCV001246782 RCV002402785 |
35 | N>S | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398535322 RCV001017196 rs1597618071 |
36 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs878855212 RCV000627521 RCV000233508 |
38 | S>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8416514 RCV001844165 RCV001558005 RCV002489056 RCV000469363 rs139418842 RCV001017432 |
38 | S>I | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002528985 CA398535297 rs1197656765 RCV000561077 |
39 | P>R | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000461771 CA16615393 RCV002374781 rs1060502375 |
39 | P>T | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000692108 rs1254608489 RCV002352139 CA398535287 |
41 | Q>* | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA398535288 rs1254608489 RCV000703712 RCV002360814 |
41 | Q>E | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2047309411 RCV001219112 |
41 | Q>P | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16615533 RCV001010593 RCV000474602 rs999239742 |
42 | G>D | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA398535280 rs1436126248 RCV001010539 RCV000806975 |
42 | G>R | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002527611 CA398535274 rs1555611494 RCV000520626 |
43 | E>* | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001011021 CA398535258 RCV000791768 rs556510460 |
45 | A>E | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000121099 RCV000765335 RCV000163762 RCV000543424 CA159761 rs556510460 |
45 | A>G | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA8416512 RCV000564102 RCV001171925 RCV002483538 RCV001246934 RCV001764684 rs556510460 |
45 | A>V | Multiple fibrofolliculomas Variant assessed as Somatic; 0.0 impact. Colorectal cancer Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000166697 RCV002492672 RCV000465657 CA196505 rs369115472 COSM1520525 COSM1520526 RCV002280106 |
47 | E>Q | lung Multiple fibrofolliculomas Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1166116743 RCV000793095 CA398535223 |
50 | G>D | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2047308123 RCV001046857 |
51 | G>S | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001313434 RCV003166786 rs2047308054 |
52 | I>V | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000520861 rs1131690825 RCV000492196 RCV001390962 |
53 | Q>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001228266 rs1555611472 RCV002402714 |
54 | M>K | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398535196 rs1555611472 RCV000635531 RCV002404768 |
54 | M>T | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000559720 CA10580175 RCV000220909 rs876660119 |
55 | N>S | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000804949 rs1597617757 |
56 | S>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2047307172 RCV001052501 |
56 | S>T | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs749770193 COSM976090 RCV001012837 COSM976091 CA8416509 RCV000635545 |
57 | R>Q | Multiple fibrofolliculomas Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV002268258 CA8416510 rs746507528 RCV000699243 RCV001012686 |
57 | R>W | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs886041203 RCV000320045 RCV001383231 |
58 | M>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8416508 RCV002499066 RCV001012999 rs778275358 RCV003223660 RCV000635534 |
59 | R>C | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001013092 RCV000239700 CA8416506 rs374969279 |
59 | R>H | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001013095 CA8416507 RCV001055863 rs374969279 |
59 | R>L | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002400318 RCV001055965 rs374969279 |
59 | R>P | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8416505 RCV002481942 rs779900587 RCV001048408 RCV002409416 |
60 | A>V | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs876660611 RCV000537263 RCV000255061 RCV002500738 RCV000222065 |
64 | A>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs778587763 CA8416502 RCV000805647 RCV003166248 RCV003144627 |
64 | A>T | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8416501 rs757012294 RCV000699848 |
65 | E>A | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000464734 CA8416500 RCV001764420 rs753787458 RCV001013941 |
66 | G>E | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000561793 RCV001217705 rs1555611438 |
67 | A>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000468103 rs1060502370 |
68 | S>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000121098 RCV000635559 rs587778365 CA159758 |
68 | S>G | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001296953 CA398535106 rs567617762 |
69 | V>F | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA8416497 RCV001336976 RCV000611358 rs567617762 RCV000574441 RCV000461839 |
69 | V>I | Familial spontaneous pneumothorax Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000575560 CA8416495 rs554247745 RCV000468736 RCV001764421 |
70 | E>K | Multiple fibrofolliculomas Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA398535091 RCV000547463 rs1555611399 |
71 | S>F | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1131690824 RCV000492494 |
72 | S>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002482059 RCV001061632 rs773648142 CA8416492 RCV002429693 |
74 | P>L | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000811517 rs1432861054 CA398535072 |
74 | P>S | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1597617348 RCV001014882 RCV001349128 CA398535069 |
75 | G>R | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001294480 rs2047302894 |
76 | P>L | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8416490 RCV002487833 RCV000820627 rs746556970 |
77 | K>T | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001217352 rs2047302808 |
78 | K>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002447357 CA398535045 RCV001320815 rs1209539424 |
78 | K>M | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001068397 rs2047302304 |
78 | K>N | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003166235 RCV000804045 rs1209539424 CA398535046 |
78 | K>R | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001069990 rs1209539424 |
78 | K>T | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs750146811 RCV000003538 RCV000239626 RCV000222354 RCV000255605 |
79 | S>missing | Familial spontaneous pneumothorax Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8416489 RCV000685818 rs779733014 RCV001683629 |
79 | S>A | Familial spontaneous pneumothorax Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA250446 rs137852930 RCV000003536 VAR_025356 RCV002512711 |
79 | S>W | Carcinoma of colon Multiple fibrofolliculomas a sporadic colorectal carcinoma; somatic mutation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1060502371 RCV000461846 |
80 | D>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000799523 RCV001015314 rs1597617148 |
81 | M>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002453774 CA8416486 RCV000803233 rs745521431 |
81 | M>V | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8416485 RCV000540761 RCV000563799 rs757060348 RCV000421206 |
83 | E>K | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000468705 CA8416463 RCV002282153 RCV001016003 rs765550303 |
86 | R>Q | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000569962 rs1327627870 RCV000525004 CA398534984 |
86 | R>W | Multiple fibrofolliculomas Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001216164 rs2047248621 |
88 | L>V | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001762107 RCV000227232 RCV000034791 rs141140415 RCV000332283 CA159767 RCV000571977 RCV000121101 |
90 | A>S | Familial spontaneous pneumothorax Multiple fibrofolliculomas Colorectal cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001070722 rs141140415 RCV001016321 CA398534963 |
90 | A>T | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001040528 rs2047248214 |
92 | H>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001016489 rs755107067 RCV000469187 CA8416461 |
92 | H>Y | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8416459 RCV001564751 RCV000691012 rs766548696 RCV000566388 |
93 | P>L | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555610947 RCV001843529 RCV001016782 RCV000539998 CA398534933 RCV003144326 |
95 | Y>C | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome Hepatoblastoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398534912 RCV000706896 rs1567822895 |
98 | H>D | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001041249 rs1567822895 |
98 | H>Y | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs398124534 RCV000492350 RCV000082634 RCV000239648 |
99 | D>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001018074 rs1597613070 CA398534887 |
101 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000573827 rs958255980 CA398534885 RCV000820452 |
101 | E>A | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000635563 RCV002448966 rs910566279 CA288319037 |
101 | E>D | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA288319040 rs958255980 RCV002436650 RCV001063990 |
101 | E>G | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555610938 RCV000562365 CA398534881 RCV000804977 |
102 | T>S | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001018710 CA8416453 RCV001860921 rs764679174 |
104 | I>T | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1597612985 RCV000811522 |
105 | K>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs398124535 RCV000239674 RCV000082635 RCV000492373 |
107 | V>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001776114 rs1372666497 RCV001058910 RCV003153916 CA398534851 |
107 | V>I | Multiple fibrofolliculomas Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
| VAR_066023 | 108 | S>I | BHD [UniProt] | Yes | UniProt |
|
CA398534833 rs1597612913 RCV001873316 RCV001019536 |
109 | H>R | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2047244929 RCV001034835 |
109 | H>Y | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001316117 RCV002322226 rs1555610924 |
111 | H>Q | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001227112 RCV002322098 rs2047244344 |
112 | P>A | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000694404 CA398534793 rs1448942524 RCV003163179 |
114 | H>Q | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA398534795 rs1567822713 RCV001020258 |
114 | H>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000082636 RCV000239717 RCV000492649 CA224169 rs398124536 |
116 | Q>* | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8416449 RCV000635549 RCV000563415 rs398124536 RCV001764683 |
116 | Q>K | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome Colorectal cancer [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs776896550 RCV000358389 RCV000230001 RCV000492339 |
117 | L>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597612758 CA398534746 RCV000796572 |
121 | V>A | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567822638 RCV000685151 |
122 | R>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001065743 rs2047242712 |
124 | A>D | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001843545 RCV000704964 RCV002507236 RCV002360819 rs1567822604 CA398534708 |
127 | R>Q | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1274919531 RCV002269289 RCV000635533 CA398534710 RCV000562654 |
127 | R>W | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs2047242176 RCV001228990 |
128 | S>N | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_066024 | 132 | E>K | PSP [UniProt] | Yes | UniProt |
|
RCV000003540 rs886037609 |
135 | P>missing | Familial spontaneous pneumothorax [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001040404 rs1490236729 RCV002320249 |
135 | P>R | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597607464 RCV002551844 CA398534629 RCV001021860 |
137 | R>C | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002268247 RCV001021888 RCV000685189 CA398534628 rs1289872207 |
137 | R>H | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1597607423 RCV001021922 CA398534623 |
138 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001048645 rs2047181267 |
141 | I>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000635569 RCV000570809 rs375921200 CA8416401 |
141 | I>V | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA16608387 RCV000432084 RCV000571995 rs773792624 RCV000689693 |
143 | F>L | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000989761 RCV002268396 rs764153620 RCV002327215 |
143 | F>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000496097 rs1135401752 |
145 | D>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2047180211 RCV001207423 |
147 | Q>L | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001312283 rs2047180211 |
147 | Q>P | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs727504645 RCV000155908 |
149 | G>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs752014050 RCV000239651 RCV002472980 CA8416397 RCV002257613 |
149 | G>S | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001226238 CA8416394 rs373794943 RCV002339612 |
151 | V>A | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA398534533 RCV002327362 RCV001069426 rs147164515 |
151 | V>L | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs147164515 RCV000658774 CA8416395 RCV000765334 RCV001022629 RCV000532463 |
151 | V>M | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs879255660 RCV000239695 |
152 | F>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000567896 rs1555610310 RCV001853771 CA398534509 |
154 | H>L | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002298746 RCV000702695 CA398534504 rs1253782475 |
155 | T>S | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001342723 rs2047178513 |
155 | T>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_066025 RCV002498825 rs786203218 RCV000003541 RCV000239623 RCV000256108 RCV000166434 |
157 | F>missing | Familial spontaneous pneumothorax Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome PSP and BHD; impaired protein stability [ClinVar, UniProt] | Yes |
ClinVar UniProt dbSNP |
|
rs786203218 VAR_066025 |
157 | F>del | PSP and BHD; impaired protein stability [UniProt] | Yes |
UniProt dbSNP |
|
RCV001066844 rs2047178671 |
158 | I>V | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002269331 rs1400112197 RCV002258099 CA398534467 RCV001044758 |
160 | D>Y | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs760556162 CA8416392 RCV001023122 RCV001873365 |
161 | S>N | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1597607071 RCV000812582 CA398534453 |
162 | L>V | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1414696397 RCV001023251 RCV002267628 |
164 | R>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001574889 RCV001023371 rs1040675580 RCV002483392 RCV000553117 CA288317129 |
166 | F>L | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA166645 RCV000239654 RCV002498642 RCV000130556 RCV000255173 rs587782069 |
167 | Q>* | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000692538 CA288317107 rs772775816 RCV001023431 |
167 | Q>H | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA398534422 rs1597606955 RCV000799526 |
167 | Q>P | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597606955 RCV001219299 |
167 | Q>R | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000459716 rs1064792959 RCV000492646 |
168 | R>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA159770 rs587778367 RCV002255131 RCV000121102 RCV003153396 RCV000817735 |
168 | R>C | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA8416389 rs759556434 RCV002334397 RCV000707321 |
168 | R>H | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA398534399 RCV000685150 rs1567819834 |
170 | Y>* | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_083268 | 170 | Y>del | PSP [UniProt] | Yes | UniProt |
|
CA398534388 RCV000689969 COSM1609897 RCV002334279 rs1290646710 COSM1609898 |
172 | I>V | Multiple fibrofolliculomas liver Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV001023667 RCV001343002 rs1597606885 CA398534380 |
173 | I>V | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1085307478 RCV001064850 RCV000489049 |
174 | T>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886799065 RCV001040690 CA288317079 |
174 | T>I | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2047176361 RCV001052858 |
174 | T>S | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2047175695 RCV001063466 |
175 | I>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001345137 rs1410036494 CA398534369 |
175 | I>V | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1597606818 RCV001023854 CA398534359 |
176 | M>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002350512 RCV001295148 rs2047175841 |
177 | M>K | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002487418 RCV002348067 RCV000356859 rs369906553 RCV001764291 CA10648705 RCV000302075 |
179 | R>Q | Familial spontaneous pneumothorax Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV000467918 RCV001198849 RCV002480410 RCV001023971 rs774358971 CA8416388 RCV001568283 |
179 | R>W | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome Potocki-Lupski syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA398534324 rs1398715352 RCV001350708 |
181 | Y>F | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000234368 RCV000523373 RCV001125810 RCV002465599 rs143525924 RCV001024230 CA8416384 |
184 | N>K | Familial spontaneous pneumothorax Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000222633 rs876657646 CA10577010 |
185 | S>P | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA10580173 RCV000489130 rs876658409 RCV000217378 RCV000475095 |
186 | W>* | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002292585 rs1597606551 RCV000816840 |
188 | F>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001056721 RCV003153913 CA398534283 rs1407566775 RCV002348418 RCV002505612 |
188 | F>I | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001308623 RCV002350558 rs2047173274 |
191 | G>E | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001236967 rs2047172274 |
192 | K>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001037887 RCV002346251 rs2047173108 |
192 | K>E | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002485674 rs756807584 RCV000694416 RCV002352153 CA8416379 |
194 | R>Q | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001563174 RCV000130128 CA165760 rs138070947 RCV000226985 RCV002267874 |
194 | R>W | Multiple fibrofolliculomas Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs878855217 RCV000492527 RCV000255719 RCV000230881 |
195 | G>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567819544 CA16616752 RCV000681949 RCV002531427 |
195 | G>* | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000034793 RCV000464556 rs201078144 RCV001024623 CA215936 |
196 | I>V | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000697317 CA398534231 rs1288802432 |
197 | I>V | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000812991 RCV000757300 rs1567819459 RCV002352264 |
198 | D>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000569608 RCV001579897 RCV000228569 RCV001762261 RCV000341795 CA159773 rs200168437 RCV000121103 |
198 | D>N | Familial spontaneous pneumothorax Multiple fibrofolliculomas Variant assessed as Somatic; 0.0 impact. Colorectal cancer Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA398534211 RCV001125808 rs1229735191 RCV002505549 RCV001024757 RCV001125809 |
200 | L>F | Familial spontaneous pneumothorax Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002268082 CA8416376 RCV002356683 rs759405317 CA8416375 RCV000473814 |
201 | Q>H | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV000565519 RCV002476128 RCV000545339 CA8416374 rs774491699 |
202 | G>S | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000492703 rs1131690836 |
203 | K>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs398124538 CA224175 RCV000133394 RCV000082640 |
204 | A>* | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000573736 rs1456509027 RCV001046048 CA398534186 |
204 | A>T | Multiple fibrofolliculomas Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001024911 RCV001064258 rs766401197 CA8416373 |
204 | A>V | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs878855219 RCV002487093 RCV001024947 CA10583456 RCV000232477 |
205 | L>P | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000404850 rs886052661 RCV000305587 COSM704867 COSM704866 CA10648704 |
206 | K>R | lung Familial spontaneous pneumothorax Multiple fibrofolliculomas Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
COSM1324137 COSM1324136 RCV000801297 CA398534155 rs1597602620 RCV002360951 |
207 | V>M | ovary Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001219820 CA398534146 rs1441105848 |
208 | F>C | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001217099 rs2047131274 |
209 | E>G | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000657236 RCV000239710 rs879255661 |
211 | E>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1207191 RCV001056971 CA10580172 rs876659927 COSM1207190 RCV000220989 |
211 | E>D | Multiple fibrofolliculomas large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs558699420 RCV003165678 RCV000239615 CA10586270 |
212 | Q>* | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs558699420 RCV001025165 RCV002490994 RCV003126810 CA8416347 RCV000527374 |
212 | Q>K | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002367730 CA398534088 rs1555609899 RCV000519187 |
217 | Q>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000537821 RCV002367810 rs1555609896 CA398534080 |
218 | R>C | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8416343 RCV002365640 RCV000471194 rs367843558 |
218 | R>H | Multiple fibrofolliculomas Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001062089 rs2047129580 |
219 | A>T | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2047129495 RCV001341804 |
219 | A>V | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_083269 | 220 | Q>del | BHD [UniProt] | Yes | UniProt |
|
rs1555609889 RCV002367697 RCV000505915 CA398534051 |
222 | M>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001025537 rs1597602427 |
223 | N>KHSVLR | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001225992 rs2047128653 |
224 | T>I | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000560997 RCV001059272 CA8416341 rs769250170 RCV002491135 |
225 | A>T | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2047128063 RCV002366024 RCV001228897 |
226 | F>S | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8416340 rs747675386 RCV000635540 RCV001775932 RCV002360542 |
227 | T>M | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2047127982 RCV001212811 |
227 | T>P | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398534014 RCV001234115 RCV002366040 rs1255176486 |
228 | P>S | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA8416335 rs200693409 RCV001209824 RCV001025960 |
235 | G>S | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs886039369 RCV001389700 RCV002365271 RCV000254784 |
236 | N>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1194767470 RCV000692706 RCV000570714 RCV002491136 CA398533958 |
236 | N>S | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1257705335 CA398533954 RCV000816714 |
237 | A>T | Multiple fibrofolliculomas Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000148504 RCV001762262 VAR_066026 RCV000163388 RCV000656850 RCV000121104 CA159776 rs78683075 |
239 | R>C | Multiple fibrofolliculomas Colorectal cancer Hereditary cancer-predisposing syndrome RCC; impaired protein stability [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000239701 rs753948488 RCV001527887 CA8416333 RCV002487112 RCV000561577 |
239 | R>H | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001040050 rs2047125657 |
240 | S>L | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1337020636 CA398533932 RCV002552408 RCV001026169 |
241 | L>V | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs2047125204 RCV001308764 |
242 | T>S | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002483808 RCV001823153 rs1026067642 RCV000635544 RCV002386013 CA288315500 |
243 | S>L | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000526590 CA398533914 rs1555609813 |
245 | T>A | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001026310 RCV001247341 CA8416328 RCV001759715 rs371401039 RCV002481835 |
245 | T>K | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs879255662 RCV000239628 |
246 | S>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000556357 rs1555609798 RCV002384081 CA398533907 |
246 | S>N | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001308080 RCV001026367 rs1597601940 CA398533903 |
246 | S>R | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2047123162 RCV001048781 |
247 | D>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002379780 RCV001206003 rs2047124055 |
247 | D>G | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002480409 CA16615122 RCV000462755 rs898441209 RCV002481438 RCV000492271 |
250 | L>M | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555609772 CA398533877 RCV000525579 |
250 | L>P | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs879255663 RCV000239672 CA10586268 |
251 | W>* | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002393605 RCV001237937 rs2047123533 |
252 | A>V | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001246877 rs2047123235 RCV002393657 |
253 | C>W | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs879255665 RCV001269562 RCV000239631 CA10586266 |
255 | H>P | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA10586267 RCV000489495 rs879255664 RCV000239703 RCV003165679 |
255 | H>Y | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876658799 RCV000222438 CA10580171 RCV000808271 |
256 | T>S | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398533803 RCV001856948 rs1131690826 RCV000492729 |
260 | W>* | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000635567 rs368778627 CA211427 RCV002408655 RCV000148502 |
260 | W>* | Familial spontaneous pneumothorax Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP gnomAD |
|
RCV000566610 rs1483962771 CA398533784 |
263 | K>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs372304384 RCV002418183 RCV000348649 RCV001556414 RCV000293686 CA8416291 |
264 | A>V | Familial spontaneous pneumothorax Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1567816339 RCV000761277 RCV001855939 |
265 | C>missing | Multiple fibrofolliculomas Hereditary renal cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000697842 rs1567816285 |
268 | R>* | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002268311 rs762370059 RCV001824384 CA8416287 RCV001027085 RCV000819183 RCV002507435 |
268 | R>W | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2047092163 RCV001036238 |
270 | T>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002418747 rs2047091792 RCV001217150 |
271 | E>K | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001027345 rs1597599241 CA398533708 |
276 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001854441 rs398124539 RCV000082642 |
277 | A>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000231805 rs878855220 |
277 | A>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001017558 CA398533695 RCV001369370 rs1597599209 |
278 | P>A | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002485371 rs748031634 RCV002433920 COSM976082 COSM976083 CA358318 RCV000210885 |
278 | P>L | Multiple fibrofolliculomas Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs748031634 RCV000544099 RCV002438333 RCV002483393 CA398533693 |
278 | P>R | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1597599209 RCV001063698 |
278 | P>S | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002438790 RCV001343626 rs2047090568 |
279 | T>A | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398533684 rs1060502367 RCV000492583 |
280 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA16615520 RCV002436434 rs1060502367 RCV000463825 |
280 | E>K | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2047090106 RCV001301298 |
281 | D>N | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001042568 RCV001017842 rs758884167 CA8416275 |
282 | T>I | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000217998 CA10580170 RCV000635551 rs876658621 |
282 | T>S | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000239718 rs879255666 |
284 | V>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001582803 rs879255667 CA10586264 RCV002446482 RCV000239633 |
285 | Q>* | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001059031 RCV002374943 CA398533615 rs767119281 |
290 | A>S | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV002375228 rs767119281 CA8416269 RCV001228792 |
290 | A>T | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001342685 CA398533116 rs767527483 RCV001018264 |
291 | D>E | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA398533119 rs1201672985 RCV000564905 |
291 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000255684 rs879255668 RCV000492726 CA10586263 RCV000239679 |
292 | L>* | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001219790 rs2047015977 |
294 | E>K | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002442448 CA398533081 rs1490424623 RCV000692102 |
296 | S>* | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000797126 rs1597592246 RCV002370091 RCV001269731 |
297 | E>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000492401 RCV000239720 RCV000082644 rs398124541 |
297 | E>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398533036 RCV000635550 rs1555608636 |
302 | S>C | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000635536 CA8416196 rs773482946 |
303 | E>G | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2047014907 RCV001215263 |
304 | A>V | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2047014823 RCV001204020 |
305 | E>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
CA288311789 rs932256543 RCV000492207 |
307 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398533005 RCV001058413 rs932256543 |
307 | E>K | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2047014288 RCV002375254 RCV001237793 |
307 | E>V | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597592053 RCV000796803 |
308 | E>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002375255 rs2047014102 RCV001237794 |
309 | K>E | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000266138 RCV000239698 rs879255669 |
310 | A>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000810434 RCV003166292 CA8416194 rs748491270 |
310 | A>T | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555608614 RCV000497517 RCV000258912 |
311 | P>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs916844425 RCV001539928 RCV000703004 RCV002369942 CA398532974 |
311 | P>L | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001232402 RCV002375239 rs916844425 CA288311750 |
311 | P>R | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs140246224 RCV000535547 RCV001584259 CA8416193 RCV000564648 |
311 | P>S | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs558365108 RCV002377376 CA398532961 RCV000635558 |
313 | L>F | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA398532966 RCV001063666 rs1432138522 |
313 | L>V | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs587781952 RCV001269910 CA166183 RCV000130322 |
315 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_083270 | 315 | E>del | PSP [UniProt] | Yes | UniProt |
|
RCV000820246 rs1597591875 |
316 | S>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000809788 rs147142086 CA398532940 |
317 | T>S | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
RCV002499067 RCV001019466 CA8416189 RCV000635565 rs756787389 |
318 | E>K | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000239656 RCV000492117 RCV000781384 rs398124542 RCV000082645 |
319 | G>missing | Familial spontaneous pneumothorax Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8416188 RCV000687129 RCV001296639 rs753491072 RCV000562286 |
319 | G>R | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP ClinGen ExAC TOPMed gnomAD |
|
rs143483053 RCV000374324 RCV000163434 VAR_025358 RCV000034797 CA159801 RCV000121114 RCV000226709 |
320 | R>Q | Familial spontaneous pneumothorax Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome a primary colorectal cancer [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs777456756 RCV000800171 RCV002386417 CA8416187 |
320 | R>W | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001061419 rs2047011877 |
321 | E>K | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs767368450 RCV001019676 CA8416186 RCV003145182 RCV000815118 |
324 | Q>R | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1278019825 CA398532890 RCV002384378 RCV001306966 |
325 | G>V | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000264762 RCV000567800 RCV000589923 CA8416182 rs138031155 RCV000319945 |
326 | P>L | Familial spontaneous pneumothorax Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001053232 rs138031155 |
326 | P>R | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8416183 RCV002379460 rs751478971 RCV000474054 |
326 | P>S | Multiple fibrofolliculomas Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1555608552 RCV000550577 |
327 | A>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001321380 RCV002377400 rs2047011004 |
327 | A>T | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs770027312 RCV002479237 RCV003128736 CA8416179 RCV001036462 |
329 | S>F | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000226049 rs878855221 |
330 | S>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001019912 RCV001800930 CA8416177 rs202215080 RCV001346447 COSM1740374 |
331 | S>F | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1555608515 RCV000635552 |
333 | S>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001245818 rs2047009922 |
334 | G>A | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131690830 RCV001390961 RCV000492227 |
338 | W>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001233519 rs2047008957 |
339 | Q>H | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_083271 | 339 | Q>del | BHD [UniProt] | Yes | UniProt |
|
RCV001009714 rs1597591465 CA398532732 |
340 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000492409 RCV000470306 rs1060502368 RCV000485342 |
341 | R>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001528486 RCV001017036 rs375352888 CA8416172 RCV000475669 |
341 | R>Q | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs770396757 RCV000829385 RCV000566841 CA8416173 RCV000635539 |
341 | R>W | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2047008002 RCV001052116 |
342 | K>E | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597591391 RCV001009754 CA398532696 RCV000808022 |
344 | P>S | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs879255670 RCV000239723 |
346 | F>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2047007233 RCV001298432 |
347 | K>Q | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs752337482 RCV001202674 RCV002491607 CA8416169 |
347 | K>R | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA398532671 RCV000635554 rs1555608487 RCV002404769 |
348 | S>T | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000635562 rs1261069493 CA398532659 |
350 | R>G | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002492423 rs190786280 RCV001562933 CA159798 RCV000121113 RCV000573718 RCV000535074 |
350 | R>Q | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA398532658 RCV000567340 RCV000635560 RCV001548632 rs1261069493 |
350 | R>W | Multiple fibrofolliculomas Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001776107 RCV002393245 rs2047006425 RCV001049665 |
351 | H>Y | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001071000 rs2047006361 |
352 | M>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002402883 rs2047006294 RCV001317472 |
353 | R>K | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs879255671 RCV000239686 CA10586260 |
356 | L>P | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs757313788 RCV002245615 CA8416144 RCV000705955 RCV001009833 |
356 | L>V | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2046951963 RCV001217252 |
358 | A>T | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs184718358 CA8416142 RCV001222305 RCV003163719 |
359 | P>S | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA8416141 rs557336321 RCV000564803 VAR_066027 RCV001127833 RCV000691604 RCV002483536 |
362 | R>C | Familial spontaneous pneumothorax Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome found in a colorectal cell line; impaired protein stability [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV002258979 RCV000635556 CA398532365 rs559055296 RCV002305520 |
362 | R>H | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000635561 CA8416140 rs559055296 RCV000216453 RCV001753671 RCV003153506 |
362 | R>L | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002476126 RCV000549290 CA398532361 rs1313891453 RCV000575146 RCV003148778 |
363 | M>L | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1313891453 RCV001237779 |
363 | M>V | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs879255672 RCV000239618 CA10586259 RCV001269531 |
366 | W>* | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000573221 CA398532331 rs1555607981 |
367 | H>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000492475 rs1131690831 |
368 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8416139 rs767714543 RCV001017316 RCV000808219 |
368 | V>I | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA398532315 RCV001017340 rs1597586957 |
370 | M>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567810665 RCV000687024 CA398532298 |
372 | N>S | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000165348 RCV000082619 rs398124524 CA193155 RCV000635546 |
373 | Q>* | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs398124524 RCV001017379 CA8416137 |
373 | Q>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002258200 rs1270035315 RCV001322714 CA398532286 |
374 | V>L | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP ClinGen gnomAD |
|
RCV000239660 rs879255673 |
375 | I>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001234310 rs2046950183 |
376 | W>* | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002293449 CA8416136 RCV000568232 RCV000542554 rs769489773 RCV003153696 |
378 | S>N | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002325226 rs747644007 RCV000635543 CA8416135 |
379 | R>G | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001241581 rs2046949704 |
379 | R>K | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003117595 RCV002453795 CA398532221 RCV003153847 RCV000805211 rs1347669124 |
381 | V>M | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs779913370 RCV002348358 RCV001042440 CA8416132 |
384 | V>I | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000574913 rs1555607960 |
385 | Q>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000570178 rs141250189 CA8416130 RCV000473687 |
385 | Q>H | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000003542 rs886037610 |
386 | S>missing | Familial spontaneous pneumothorax [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2046948689 RCV002377402 RCV001322224 |
387 | A>P | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001010029 rs1431737113 CA398532150 RCV000541483 |
387 | A>V | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs991762823 CA288308050 RCV001766824 RCV001010114 RCV001239490 |
390 | V>I | Multiple fibrofolliculomas Colorectal cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001858369 CA398532106 RCV000569081 rs1555607942 |
391 | L>F | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8416129 RCV000569998 RCV002528984 rs570066243 |
392 | R>Q | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA16615362 RCV001010129 RCV002268083 rs1060502374 RCV000460332 |
392 | R>W | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000082621 rs398124525 RCV000691870 RCV000492656 |
394 | M>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398532013 RCV001064547 RCV002339322 rs1335868794 RCV001585968 |
394 | M>T | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002334419 RCV001048163 RCV000756171 rs1567809782 |
397 | V>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003126746 RCV000470218 CA8416101 rs752006809 COSM3402634 RCV002339161 |
397 | V>M | Multiple fibrofolliculomas Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome central_nervous_system [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002497102 RCV000530248 CA8416100 RCV002350218 rs766801011 |
398 | G>A | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000685034 CA8416097 RCV001010255 rs760079073 |
400 | V>A | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000082622 RCV000472239 RCV001010250 rs148257120 CA224150 |
400 | V>F | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA159792 RCV000166127 RCV000121111 rs148257120 RCV000231168 |
400 | V>I | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8416096 RCV001582792 RCV000492247 RCV000233961 rs143183215 |
401 | R>C | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1196335 RCV001010203 rs771653740 CA8416095 RCV000792931 |
401 | R>H | lung Multiple fibrofolliculomas Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001292861 RCV000082623 RCV000807361 rs398124526 |
402 | I>missing | Familial spontaneous pneumothorax Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000800434 rs1597584543 RCV002345786 CA398531930 |
402 | I>T | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2046926816 RCV001058231 |
404 | P>Q | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000817465 RCV000492570 rs1131690837 |
405 | Y>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA193271 RCV001219608 rs786202541 RCV000165394 |
405 | Y>* | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001010335 CA8416094 RCV002286768 RCV000635537 rs528541881 |
406 | S>G | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003165654 RCV000228856 rs878855213 RCV000255255 |
407 | S>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1352297460 RCV001341844 |
407 | S>G | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8416093 RCV001010420 RCV001565834 rs774142829 RCV000702759 |
408 | Q>H | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
RCV003162838 rs1172104668 RCV000635542 CA398531854 |
408 | Q>R | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001315254 rs2046925964 |
409 | Y>C | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_083272 | 409 | Y>del | BHD [UniProt] | Yes | UniProt |
|
RCV001045934 rs2046925649 |
410 | E>G | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
CA288307358 RCV001048010 RCV003160371 rs763591386 |
410 | E>K | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2046925178 RCV001306091 |
412 | A>D | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001235196 rs866494624 CA288307335 |
412 | A>S | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001766826 RCV001059187 rs1363880753 CA398531781 RCV001010524 |
414 | R>Q | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1226407835 RCV002384409 RCV001760400 RCV001319590 CA398531783 |
414 | R>W | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome Colorectal cancer [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs748148728 RCV000657679 RCV001010529 CA398531766 |
415 | C>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1567809578 RCV000696473 CA398531776 |
415 | C>R | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001228880 RCV001010537 CA8416088 rs781295687 |
416 | N>S | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000492723 RCV000204355 RCV000255990 rs864622651 |
418 | L>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10586257 RCV000239663 rs879255674 RCV000493637 |
418 | L>P | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001246331 rs2046923143 |
418 | L>Q | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs755177473 RCV001049981 |
419 | G>E | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001045667 CA288307278 rs368175757 RCV002445245 |
421 | S>N | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP |
|
RCV001010630 RCV000462559 CA8416084 RCV001584159 rs565447853 |
422 | P>L | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000706889 CA398531689 rs565447853 |
422 | P>R | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs41464156 RCV001066856 |
423 | H>Q | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000706446 RCV002369969 rs765628527 CA8416082 |
423 | H>Y | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8416081 RCV002462832 RCV002375180 rs752170592 RCV001214989 |
424 | V>A | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000572228 rs1264775833 RCV000819536 CA398531674 |
424 | V>M | Multiple fibrofolliculomas Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001558726 RCV000166621 CA196326 RCV000635548 rs786203348 |
425 | Q>R | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
| VAR_083273 | 425 | Q>del | PSP [UniProt] | Yes | UniProt |
|
CA8416080 RCV001053514 rs766990565 RCV003128742 RCV002445285 |
426 | I>T | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001337850 rs1296086439 |
426 | I>V | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
CA288307171 RCV000686185 rs766218250 RCV001010727 |
427 | P>L | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8416079 RCV000567390 rs773986076 RCV000696164 |
427 | P>T | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001051328 RCV000569333 RCV001755957 CA8416076 rs368880414 |
428 | P>A | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs199889477 RCV001544699 RCV002492651 RCV000529447 RCV000163906 RCV001762364 CA189480 |
428 | P>H | Multiple fibrofolliculomas Colorectal cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000568600 rs199889477 CA159789 RCV000121110 RCV002483217 RCV000635530 |
428 | P>L | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs199889477 RCV000565364 RCV001580511 RCV003153697 CA8416075 RCV000544195 |
428 | P>R | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001341829 rs368880414 RCV002377450 |
428 | P>T | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002490302 RCV002496246 RCV001762031 RCV001000611 RCV000492709 RCV000003531 RCV000082625 RCV000003530 RCV000130568 rs80338682 RCV000082626 RCV000003529 |
429 | H>missing | Familial spontaneous pneumothorax Colorectal cancer Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002496246 RCV001000611 RCV000492709 RCV000003531 RCV000082625 rs80338683 |
429 | H>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs879255675 RCV002379071 RCV000239666 RCV000413427 |
429 | H>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000706666 RCV002281115 RCV000571150 CA398531625 rs375082054 RCV002476247 |
429 | H>D | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000817804 RCV001010754 CA8416074 rs375082054 |
429 | H>N | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000567009 RCV000812782 RCV001755958 rs375082054 VAR_066028 CA8416073 RCV002497214 |
429 | H>Y | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome PSP [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555607640 RCV000572601 |
430 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs911287169 RCV001010774 RCV001214732 CA288307083 |
430 | V>M | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000811961 CA398531592 rs1597583773 RCV003166311 |
432 | S>P | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060502372 RCV000458113 CA16615110 RCV001010579 |
433 | S>L | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000578705 rs1266098984 RCV002384274 CA398531571 RCV000807381 |
434 | E>* | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002381798 CA398531515 RCV000810513 rs1286890611 |
434 | E>G | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001036172 rs1266098984 |
434 | E>K | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131690829 RCV000492669 |
435 | F>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000703847 rs398124527 RCV000492221 RCV000082627 |
435 | F>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000635538 rs772207015 CA288305835 RCV000765333 |
437 | V>L | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002255644 rs759743111 RCV001309007 CA8416034 |
438 | I>F | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs112980409 RCV001314051 CA398531486 |
439 | V>L | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs112980409 RCV001010928 RCV001302679 CA8416031 RCV002479207 |
439 | V>M | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1555607273 RCV000635547 |
440 | E>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878854341 RCV000003544 |
442 | H>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597580340 RCV000814030 |
442 | H>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs535236784 RCV002381871 CA288305794 RCV000822472 |
443 | A>T | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs876660342 RCV000215804 CA10580169 RCV000803452 |
444 | A>T | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001350360 rs41419545 |
445 | A>P | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002298820 rs41419545 CA288305789 RCV001011104 |
445 | A>S | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000121112 RCV000163302 RCV000232087 CA159795 RCV000336471 RCV001762032 VAR_025361 RCV000003537 rs41419545 RCV000034789 |
445 | A>T | Carcinoma of colon Familial spontaneous pneumothorax Multiple fibrofolliculomas Colorectal cancer Hereditary cancer-predisposing syndrome a sporadic colorectal carcinoma; somatic mutation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8416026 RCV002381829 RCV000815599 rs200724468 |
446 | R>C | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002307624 RCV001010835 CA8416025 RCV000809356 RCV002501096 rs750104212 |
446 | R>H | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV001235570 rs200724468 |
446 | R>S | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000483674 RCV000492447 rs879255677 RCV000239636 |
449 | L>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131690828 RCV000492587 |
451 | P>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2046880586 RCV001323539 |
451 | P>R | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002497436 RCV001058907 rs2046880742 |
451 | P>S | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs763920904 RCV001011145 CA398531378 |
452 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555607179 RCV000635553 |
453 | G>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000492687 RCV002481559 rs1131690841 RCV001044760 |
453 | G>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000562308 RCV001853770 CA398531362 rs1555607217 |
453 | G>E | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000635535 rs1555607212 |
454 | C>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs767762804 RCV002379557 RCV001053244 |
454 | C>G | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001011060 CA288305667 rs1050188504 RCV001048128 |
455 | E>D | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000223022 RCV002485418 rs199786696 RCV000687348 CA8416016 RCV003128597 |
455 | E>G | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000802282 RCV002477837 RCV002259371 RCV002386430 CA8416017 rs759637055 |
455 | E>K | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001011243 RCV002476127 RCV000558097 CA8416015 rs150439088 RCV001775852 |
458 | Q>R | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA398531292 RCV000800120 rs1229110607 |
459 | S>A | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA8416014 RCV001011229 RCV000536695 rs377468280 |
459 | S>F | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1229110607 RCV001339524 |
459 | S>P | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000485073 RCV000702300 rs1064793128 RCV000492502 |
460 | L>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA288305654 rs112196863 RCV000551704 |
460 | L>P | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1397579538 CA398531270 RCV003163163 RCV000692977 |
461 | S>N | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001011295 CA398531263 rs772310968 |
461 | S>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000003534 RCV000166580 RCV000781382 CA10586253 rs137852929 CA196224 RCV000492426 RCV000255586 RCV000239639 |
463 | Y>* | Familial spontaneous pneumothorax Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001354212 rs770077517 RCV000457253 CA8416012 RCV000561721 RCV003155191 |
463 | Y>H | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001317737 rs2046878030 RCV003166831 |
464 | E>A | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398531234 COSM148203 RCV001204191 RCV002393457 rs1471793185 |
464 | E>K | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. stomach [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
CA398531213 RCV001011318 rs1597579844 |
465 | F>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2046877798 RCV001071417 |
466 | V>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001011342 CA398531182 rs1597579824 |
468 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2046877587 RCV001065629 RCV002393318 |
468 | T>I | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000228627 CA8416009 rs151312899 RCV000568886 RCV002479934 RCV001697686 |
472 | P>A | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1180118315 RCV000635532 RCV001011458 CA398531129 |
472 | P>L | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001227936 rs151312899 |
472 | P>S | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001721499 CA8416008 rs144883828 RCV000460964 RCV000575471 |
473 | V>A | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA398531126 rs1597579765 RCV000795936 RCV002388436 |
473 | V>I | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2046876810 RCV001346281 |
474 | A>T | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131690835 RCV000492599 |
476 | D>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000321128 RCV000375788 CA8416006 rs756944795 RCV000571724 |
476 | D>E | Familial spontaneous pneumothorax Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000762980 RCV000256142 rs879255678 CA10586252 RCV000507127 RCV000567617 RCV000239684 |
477 | R>* | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000266163 RCV000379332 CA8416005 rs748878853 RCV000765332 RCV001764290 RCV000414396 RCV001011546 |
477 | R>Q | Multiple fibrofolliculomas Colorectal cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_083274 | 477 | R>del | PSP [UniProt] | Yes | UniProt |
|
RCV000799799 CA398531022 rs745720578 |
480 | P>H | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597579055 RCV000822765 |
481 | T>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000794267 CA398531016 rs781081891 |
481 | T>I | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2046870886 RCV001070354 |
481 | T>P | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398531014 RCV000707212 rs1440165382 |
482 | I>V | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1567807238 RCV000698319 |
484 | N>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1010980331 RCV000635555 CA288305215 RCV002282274 RCV002388036 |
484 | N>S | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001061105 rs1448703959 CA398530995 RCV002393300 |
485 | K>E | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000538586 CA398530984 rs1555607026 |
486 | I>T | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs757197845 RCV000549849 |
487 | E>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000165301 CA193015 rs786202475 |
487 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398530963 RCV001011700 RCV001860680 rs1597578917 |
488 | A>T | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001124732 RCV000571344 rs200660337 RCV001591093 CA8415959 RCV002268080 RCV000475144 |
488 | A>V | Familial spontaneous pneumothorax Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs757222242 RCV002393691 RCV001294147 RCV001776175 CA288305186 |
489 | A>T | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001011736 rs1597578868 |
492 | N>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000805142 RCV001011827 rs750535468 CA8415955 |
496 | S>C | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs750535468 CA398530869 RCV002393739 RCV001309418 RCV002476430 |
496 | S>F | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs879255679 RCV000239688 |
498 | D>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2046868475 RCV001213888 |
498 | D>V | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2046868336 RCV001064586 |
499 | V>M | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597578776 RCV001011903 |
500 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002268079 RCV000475725 CA8415952 RCV000572433 rs376715412 |
505 | V>I | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA398530741 RCV000804274 rs1360467783 RCV002507392 RCV001011887 |
507 | L>F | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA398530738 RCV000695179 rs1567807022 |
507 | L>P | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001121962 RCV000034790 CA211431 RCV000217068 rs199643834 RCV000573630 RCV001086352 VAR_066029 |
508 | K>R | Familial spontaneous pneumothorax Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome BHD; does not impair protein stability, growth suppression activity or intracellular localization of folliculin [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs398124529 RCV000239713 RCV000082629 RCV002390247 |
508 | K>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597578623 RCV002550773 CA398530710 RCV001012020 |
509 | E>D | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597578645 RCV001012013 CA398530721 |
509 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000239647 rs879255680 |
510 | E>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000003539 rs886037608 |
510 | E>* | Familial spontaneous pneumothorax [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000239692 RCV002392752 rs879255681 RCV000489596 |
510 | E>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs879255682 CA10586247 RCV000239621 RCV000756170 |
511 | W>* | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000239664 RCV002399473 RCV000082630 CA224159 rs398124530 RCV002505009 |
511 | W>* | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000531932 CA398530693 rs1555606948 |
511 | W>R | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_083275 | 511 | W>del | BHD [UniProt] | Yes | UniProt |
|
RCV000812075 rs1303612288 CA398530665 |
512 | M>I | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA398530530 rs1415483886 RCV000563515 RCV001208437 |
515 | V>M | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002504554 rs2046824022 RCV001751684 RCV001349162 RCV002404827 |
516 | K>R | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001029847 rs1597574368 |
517 | V>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002397657 rs142288285 CA8415935 RCV000808791 RCV001292936 |
520 | K>R | Familial spontaneous pneumothorax Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
CA398530478 rs1597574324 RCV001012145 |
522 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597574324 RCV001326483 RCV003169531 |
522 | T>N | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597574324 RCV001206002 RCV002402595 |
522 | T>S | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2046823273 RCV001327412 |
524 | V>G | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2046823116 RCV001245966 |
525 | D>G | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001324282 rs2046823044 |
526 | S>G | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000239620 RCV001012269 rs753009073 |
527 | R>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10586246 RCV000239694 rs879255683 RCV000479484 RCV001012272 |
527 | R>* | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000560552 COSM976078 RCV000565191 CA8415934 RCV002527743 rs777826268 RCV001121961 |
527 | R>Q | Familial spontaneous pneumothorax Multiple fibrofolliculomas Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001851346 RCV000492254 RCV000657381 rs1131690827 |
530 | E>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8415931 rs753023144 RCV001860702 RCV001012340 |
532 | T>P | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs876660810 RCV000219888 RCV001244466 |
533 | Q>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002399474 RCV000820903 rs398124532 CA224163 RCV000082632 |
533 | Q>* | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002397458 RCV000702195 rs190965235 CA8415930 |
533 | Q>H | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
| VAR_083276 | 533 | Q>del | BHD [UniProt] | Yes | UniProt |
|
RCV000530010 rs1439151268 |
534 | K>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002255530 RCV000806769 rs1597574088 |
536 | L>missing | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000635564 rs1402955238 CA398530002 |
540 | G>D | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002404824 rs764899882 CA8415927 RCV001348429 COSM1381202 |
541 | A>V | Multiple fibrofolliculomas Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA8415925 RCV001012478 rs776389684 RCV000702226 |
543 | E>K | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA188379 RCV002485010 RCV001539507 RCV001762360 RCV000231877 RCV002267903 rs760329266 RCV000163471 |
545 | D>E | Multiple fibrofolliculomas Colorectal cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2046820384 RCV001205284 |
545 | D>N | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000635566 CA8415923 rs775149348 RCV002461370 RCV002483537 RCV002268200 RCV000570961 |
546 | N>S | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8415922 RCV000563758 rs771847652 |
548 | K>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001345530 rs2046819323 |
548 | K>T | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398529946 RCV002388037 RCV000635557 rs1555606373 |
549 | L>V | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000239662 CA10586245 rs879255684 RCV002401949 |
553 | W>* | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001584204 RCV000690635 rs1131690833 CA398529920 RCV002496889 RCV000492176 |
553 | W>R | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000798002 CA398529868 rs1597573772 |
560 | T>I | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2046817737 RCV001240522 |
561 | Y>F | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8415917 rs749359334 RCV000561170 RCV001853772 |
562 | K>R | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1314645884 RCV000694143 RCV001012734 |
564 | H>missing | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA398529843 rs1555606350 RCV001352408 RCV000570237 |
564 | H>Y | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002402810 RCV002541771 RCV001812438 rs756302545 CA8415916 |
566 | M>T | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001207804 RCV002465846 RCV002411766 rs1466102804 CA398529819 |
567 | S>F | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001337259 rs748337450 RCV000218570 CA8415915 |
568 | T>A | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000538027 rs781733528 RCV002413484 CA8415914 |
568 | T>M | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001012834 rs752161850 RCV001242710 CA8415912 |
570 | R>C | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000213870 RCV002494583 RCV001555199 CA8415911 rs201056799 RCV000701876 |
570 | R>H | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001347686 RCV002493791 CA288303537 rs201056799 RCV002404819 |
570 | R>L | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000548547 rs1456319670 CA398529796 |
572 | P>A | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002507405 rs1567804824 CA398529794 RCV000809531 |
572 | P>H | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA398529795 rs1456319670 RCV000813277 |
572 | P>S | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002406753 RCV000797511 CA398529790 rs758901704 |
573 | T>A | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8415910 RCV001309793 rs758901704 |
573 | T>S | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002402638 rs2046815401 RCV001214711 |
574 | A>V | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001056149 rs2046815038 |
577 | S>F | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002481820 RCV001012941 RCV001231605 CA288303478 rs1048214486 |
578 | R>Q | Multiple fibrofolliculomas Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000806704 RCV001766682 rs775107483 CA8415906 RCV002397645 |
578 | R>W | Multiple fibrofolliculomas Colorectal cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs767345167 RCV001308500 |
579 | N>K | Multiple fibrofolliculomas [ClinVar] | Yes |
ClinVar dbSNP |
| TCGA novel | 6 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 10 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs977734712 CA288320867 |
16 | P>S | No |
ClinGen Ensembl |
|
|
rs765251703 CA8416533 |
17 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs398124537 CA398535429 COSM1207192 COSM1207193 |
17 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs398124537 RCV000082639 CA224172 |
17 | R>P | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1282654875 CA398535422 |
19 | L>V | No |
ClinGen gnomAD |
|
|
rs967684437 CA288320798 |
25 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA8416524 rs779449668 |
27 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs749758787 CA288320764 |
28 | P>A | No |
ClinGen ExAC gnomAD |
|
|
RCV000082643 rs398124540 |
29 | L>missing | No |
ClinVar dbSNP |
|
|
CA8416516 rs750221380 |
32 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA398535307 rs1483917461 |
38 | S>C | No |
ClinGen TOPMed |
|
|
CA8416513 rs760808366 |
43 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA288320665 rs771056209 |
53 | Q>R | No |
ClinGen TOPMed |
|
|
rs896057815 CA288320659 |
54 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA288320654 rs1047155087 |
55 | N>H | No |
ClinGen Ensembl |
|
|
rs1425699524 CA398535185 |
56 | S>G | No |
ClinGen gnomAD |
|
|
rs774725046 CA398535180 |
56 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA8416504 rs758156813 |
61 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398535157 rs758156813 |
61 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs876660611 | 64 | A>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763369657 CA8416493 |
71 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA398535061 rs1396740596 |
76 | P>S | No |
ClinGen gnomAD |
|
|
rs1555611377 RCV000657165 |
78 | K>missing | No |
ClinVar dbSNP |
|
|
CA398535034 rs1597617167 |
80 | D>G | No |
ClinGen Ensembl |
|
|
rs1057518147 RCV000413452 |
81 | M>missing | No |
ClinVar dbSNP |
|
|
CA398535015 rs150712346 |
82 | C>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1386417463 CA398534994 |
84 | G>V | No |
ClinGen gnomAD |
|
|
CA398534992 rs1359706333 |
85 | C>R | No |
ClinGen TOPMed |
|
|
rs781100382 CA8416462 |
91 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA8416460 rs751634275 |
92 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1211934116 CA398534945 |
93 | P>S | No |
ClinGen gnomAD |
|
|
CA398534939 rs1421444831 |
94 | G>E | No |
ClinGen TOPMed |
|
|
CA398534935 rs1343904562 |
95 | Y>H | No |
ClinGen gnomAD |
|
|
rs1297663898 CA398534923 |
96 | I>S | No |
ClinGen gnomAD |
|
|
CA398534917 rs1227052253 |
97 | S>N | No |
ClinGen gnomAD |
|
|
rs765702734 CA8416456 |
102 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA8416454 rs777336970 |
103 | S>Y | No |
ClinGen ExAC |
|
| TCGA novel | 106 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1597612962 CA398534856 |
106 | Y>S | No |
ClinGen Ensembl |
|
|
rs1597612884 CA398534818 |
111 | H>P | No |
ClinGen Ensembl |
|
| TCGA novel | 112 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398534756 rs1267068373 |
120 | I>V | No |
ClinGen gnomAD |
|
|
rs748979393 CA8416447 |
122 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1483801729 CA398534716 |
126 | V>I | No |
ClinGen gnomAD |
|
|
CA398534655 rs1225760077 |
133 | V>F | No |
ClinGen TOPMed |
|
|
rs1483740746 CA398534642 |
135 | P>A | No |
ClinGen TOPMed |
|
|
CA398534638 rs1490236729 |
135 | P>L | No |
ClinGen gnomAD |
|
|
CA398534643 rs1483740746 |
135 | P>T | No |
ClinGen TOPMed |
|
|
rs1207311795 CA398534612 |
139 | G>D | No |
ClinGen gnomAD |
|
|
CA398534609 rs1272462864 |
140 | P>S | No |
ClinGen gnomAD |
|
|
CA398534593 rs1457527275 |
142 | F>L | No |
ClinGen gnomAD |
|
|
rs372918705 CA288317171 CA398534584 COSM1709988 COSM1709987 |
144 | G>R | skin [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed |
|
CA398534529 rs1425827318 |
152 | F>L | No |
ClinGen gnomAD |
|
|
rs1479341645 CA398534520 |
153 | S>G | No |
ClinGen gnomAD |
|
| rs786203218 | 157 | F>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398534449 rs1232349863 |
163 | A>T | No |
ClinGen gnomAD |
|
|
rs1030497108 CA288317146 |
165 | G>S | No |
ClinGen TOPMed |
|
| TCGA novel | 166 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000507193 CA398534408 rs1555610290 COSM560004 COSM560005 |
169 | W>* | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
| TCGA novel | 177 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369906553 CA288317055 |
179 | R>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs771205573 CA8416387 |
180 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs749368513 CA8416386 |
182 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA398534306 rs1468227944 |
184 | N>T | No |
ClinGen gnomAD |
|
|
CA398534299 rs1567819679 |
185 | S>C | No |
ClinGen Ensembl |
|
|
CA398534302 rs876657646 |
185 | S>T | No |
ClinGen TOPMed |
|
|
CA398534290 rs1185698194 |
186 | W>C | No |
ClinGen TOPMed |
|
|
CA398534293 rs876658409 |
186 | W>L | No |
ClinGen TOPMed |
|
|
CA398534289 rs1473012462 |
187 | P>T | No |
ClinGen gnomAD |
|
|
CA8416380 rs747581757 |
191 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA398534228 rs1343380353 |
197 | I>T | No |
ClinGen Ensembl |
|
|
rs200168437 CA8416377 |
198 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1450326991 CA398534197 |
202 | G>D | No |
ClinGen gnomAD |
|
|
CA398534128 rs1189823469 |
211 | E>K | No |
ClinGen gnomAD |
|
|
rs867115278 CA288315657 |
213 | F>L | No |
ClinGen Ensembl |
|
|
CA8416346 rs370074267 |
215 | C>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1274746260 CA398534095 |
216 | P>A | No |
ClinGen TOPMed |
|
|
rs779467022 CA8416342 |
223 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 230 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398533993 rs1268691664 |
231 | H>R | No |
ClinGen gnomAD |
|
|
rs780010668 CA8416336 |
232 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1483853386 CA398533975 |
234 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 235 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA288315546 rs964077477 |
238 | A>S | No |
ClinGen gnomAD |
|
|
CA398533947 rs964077477 |
238 | A>T | No |
ClinGen gnomAD |
|
| VAR_025357 | 238 | A>V | a renal cell carcinoma cell line [UniProt] | No | UniProt |
|
CA398533938 rs1403312599 |
240 | S>P | No |
ClinGen gnomAD |
|
|
CA398533930 rs1329575684 |
241 | L>P | No |
ClinGen gnomAD |
|
|
CA8416331 rs536249722 |
242 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA8416329 rs759928360 |
244 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs768225327 CA8416324 |
246 | S>G | No |
ClinGen ExAC |
|
|
CA288315480 rs747429545 |
249 | N>H | No |
ClinGen Ensembl |
|
|
rs1251257673 CA398533882 |
249 | N>S | No |
ClinGen TOPMed |
|
|
CA8416322 rs779849453 |
253 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA398533828 COSM976085 COSM976084 rs1435558928 |
258 | F>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA398533824 rs1166916336 |
259 | A>T | No |
ClinGen TOPMed |
|
|
rs751677461 CA8416292 |
261 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs990924088 CA288314578 |
266 | G>S | No |
ClinGen Ensembl |
|
|
CA8416288 rs765807221 |
267 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs775085512 CA8416286 |
268 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA398533744 rs1366418441 |
270 | T>I | No |
ClinGen TOPMed |
|
|
rs780125534 CA8416276 |
281 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 286 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398533609 rs1165883287 |
291 | D>N | No |
ClinGen gnomAD |
|
|
rs770988236 CA8416199 |
297 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs763092545 CA8416198 |
299 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA398533056 rs1187982450 |
300 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1225531030 CA398533006 |
306 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
RCV000497917 rs1555608617 |
311 | P>missing | No |
ClinVar dbSNP |
|
|
rs747467294 CA8416191 |
314 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs147142086 CA8416190 |
317 | T>A | No |
ClinGen ESP ExAC TOPMed |
|
|
rs767368450 CA8416185 |
324 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398532861 rs1337576606 |
330 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA398532836 rs1470514558 |
333 | S>P | No |
ClinGen gnomAD |
|
|
rs780597146 CA8416174 |
335 | C>Y | No |
ClinGen ExAC |
|
|
CA398532794 rs1171434606 |
336 | G>A | No |
ClinGen TOPMed |
|
|
CA8416171 rs777103374 |
342 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA398532713 rs1363823549 |
342 | K>T | No |
ClinGen gnomAD |
|
|
rs398124523 CA224146 RCV000082617 |
354 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA398532396 rs1597587077 |
357 | G>R | No |
ClinGen Ensembl |
|
|
CA288308127 rs866720887 |
358 | A>V | No |
ClinGen Ensembl |
|
|
CA398532368 rs1280149200 |
361 | F>L | No |
ClinGen TOPMed |
|
|
CA398532348 rs1223326792 |
365 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA8416138 rs200877872 |
370 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 372 | N>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1216355389 CA398532257 |
378 | S>G | No |
ClinGen gnomAD |
|
|
CA8416134 rs776467886 |
380 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs758063582 CA8416131 |
385 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1191271710 CA398532126 |
389 | E>G | No |
ClinGen TOPMed |
|
| TCGA novel | 389 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_025359 CA398532097 rs1060502374 |
392 | R>G | a primary colorectal cancer; somatic mutation [UniProt] | No |
ClinGen UniProt TOPMed dbSNP gnomAD |
|
rs1383235698 CA398532020 |
394 | M>L | No |
ClinGen gnomAD |
|
|
rs1383235698 CA398532016 |
394 | M>V | No |
ClinGen gnomAD |
|
|
CA398531989 rs1447526883 |
396 | P>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA398531981 rs1597584697 |
397 | V>G | No |
ClinGen Ensembl |
|
|
CA398531917 rs1597584531 |
403 | I>T | No |
ClinGen Ensembl |
|
|
CA398531872 rs1352297460 |
407 | S>C | No |
ClinGen gnomAD |
|
|
CA10603582 RCV000294917 rs561236067 RCV000420603 CA16607537 |
409 | Y>* | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA288307360 rs1016802080 |
409 | Y>H | No |
ClinGen Ensembl |
|
|
CA398531792 rs1567809610 |
413 | Y>C | No |
ClinGen Ensembl |
|
|
rs1400882628 CA398531772 |
415 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 417 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1386426732 CA398531752 |
417 | F>V | No |
ClinGen gnomAD |
|
|
CA288307314 rs527859185 |
419 | G>R | No |
ClinGen 1000Genomes gnomAD |
|
|
rs755177473 CA8416087 |
419 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1199912368 CA398531718 |
420 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 421 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA398531649 rs1296086439 |
426 | I>F | No |
ClinGen gnomAD |
|
|
rs773986076 CA398531640 |
427 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8416078 rs766218250 |
427 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA398531636 rs766218250 |
427 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000479575 rs1555607651 |
429 | H>missing | No |
ClinVar dbSNP |
|
| rs80338682 | 429 | H>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs80338682 | 429 | H>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758871984 CA8416071 |
431 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA398531572 rs1266098984 |
434 | E>Q | No |
ClinGen gnomAD |
|
|
rs1567808084 CA398531511 |
435 | F>L | No |
ClinGen Ensembl |
|
|
rs772207015 CA8416035 |
437 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1443990365 CA398531476 |
440 | E>D | No |
ClinGen TOPMed |
|
|
rs535236784 CA398531459 |
443 | A>S | No |
ClinGen gnomAD |
|
|
rs1297078797 CA398531456 |
443 | A>V | No |
ClinGen gnomAD |
|
| VAR_025360 | 444 | A>S | a primary clear-cell renal cell carcinoma; somatic mutation [UniProt] | No | UniProt |
|
rs1085307771 RCV000489234 |
445 | A>missing | No |
ClinVar dbSNP |
|
|
rs879064748 CA288305782 |
445 | A>V | No |
ClinGen Ensembl |
|
|
rs200724468 CA398531436 |
446 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8416023 rs753685944 |
450 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs763920904 CA8416021 |
452 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA8416018 rs767762804 |
454 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1567807684 CA398531252 |
462 | K>M | No |
ClinGen Ensembl |
|
|
CA398531199 rs1473423234 |
466 | V>A | No |
ClinGen Ensembl |
|
|
rs1457951673 CA398531145 |
471 | S>N | No |
ClinGen gnomAD |
|
|
rs1424621592 CA398531105 |
475 | A>T | No |
ClinGen gnomAD |
|
|
CA8416004 rs777774091 |
478 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209069882 CA398531029 |
479 | G>C | No |
ClinGen gnomAD |
|
|
CA288305225 rs745720578 |
480 | P>L | No |
ClinGen Ensembl |
|
|
rs781081891 CA288305222 |
481 | T>S | No |
ClinGen Ensembl |
|
|
rs1597579006 CA398531011 |
482 | I>T | No |
ClinGen Ensembl |
|
|
rs1206559440 CA398530980 |
486 | I>M | No |
ClinGen TOPMed |
|
|
rs757222242 CA398530951 |
489 | A>S | No |
ClinGen gnomAD |
|
|
RCV000306506 CA10603572 rs886042033 |
502 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA8415954 rs778904029 |
503 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1045022900 CA398530776 |
504 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1045022900 CA288305073 |
504 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 505 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs531459106 CA398530698 |
510 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA398530708 rs1415029672 |
510 | E>K | No |
ClinGen gnomAD |
|
|
RCV000401322 CA10603293 rs886041478 |
514 | K>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1415483886 CA398530528 |
515 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 519 | F>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA288303741 rs980319370 |
523 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1057518043 RCV000413653 |
526 | S>missing | No |
ClinVar dbSNP |
|
|
CA398530438 rs1293551893 |
528 | P>L | No |
ClinGen gnomAD |
|
|
CA8415932 rs756318617 |
530 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA398530420 rs1431122003 |
531 | D>Y | No |
ClinGen TOPMed |
|
|
rs398124532 CA288303722 |
533 | Q>E | No |
ClinGen Ensembl |
|
|
rs886039371 RCV000255154 |
534 | K>missing | No |
ClinVar dbSNP |
|
|
CA398530000 rs1402955238 |
540 | G>V | No |
ClinGen gnomAD |
|
|
CA8415928 rs752108683 |
541 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1238615374 CA398529966 |
546 | N>D | No |
ClinGen gnomAD |
|
|
rs775149348 CA398529963 |
546 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249630904 CA398529960 |
547 | V>I | No |
ClinGen gnomAD |
|
|
CA8415920 rs774247151 |
556 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA398529857 rs1423468418 |
562 | K>E | No |
ClinGen gnomAD |
|
|
CA288303555 rs1022566650 |
566 | M>I | No |
ClinGen Ensembl |
|
|
rs2046815679 RCV001269847 |
573 | T>missing | No |
ClinVar dbSNP |
|
|
rs753313171 CA8415909 |
573 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA8415908 rs763604691 |
575 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA288303481 rs886426221 |
577 | S>A | No |
ClinGen gnomAD |
|
|
CA398529767 rs886426221 |
577 | S>P | No |
ClinGen gnomAD |
|
|
rs1597573461 CA398529747 |
580 | N>C | No |
ClinGen Ensembl |
3 associated diseases with Q8NFG4
[MIM: 135150]: Birt-Hogg-Dube syndrome (BHD)
A rare autosomal dominant genodermatosis characterized by hair follicle hamartomas (fibrofolliculomas), kidney tumors, and spontaneous pneumothorax. Fibrofolliculomas are part of the triad of Birt-Hogg-Dube syndrome skin lesions that also includes trichodiscomas and acrochordons. Onset of this dermatologic condition is invariably in adulthood. Birt-Hogg-Dube syndrome is associated with a variety of histologic types of renal tumors, including chromophobe renal cell carcinoma (RCC), benign renal oncocytoma, clear-cell RCC and papillary type I RCC. Multiple lipomas, angiolipomas, and parathyroid adenomas are also seen in Birt-Hogg-Dube syndrome patients. {ECO:0000269|PubMed:12204536, ECO:0000269|PubMed:15852235, ECO:0000269|PubMed:18234728, ECO:0000269|PubMed:19785621, ECO:0000269|PubMed:23784378, ECO:0000269|PubMed:31615547}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 173600]: Primary spontaneous pneumothorax (PSP)
Condition in which air is present in the pleural space in the absence of a precipitating event, such as trauma or lung disease. This results in secondary collapse of the lung, either partially or completely, and some degree of hypoxia. PSP is relatively common, with an incidence between 7.4-18/100'000 for men and 1.2-6/100'000 for women and a dose-dependent, increased risk among smokers. Most cases are sporadic, typically occurring in tall, thin men aged 10-30 years and generally while at rest. Familial PSP is rarer and usually is inherited as an autosomal dominant condition with reduced penetrance, although X-linked recessive and autosomal recessive inheritance have also been suggested. {ECO:0000269|PubMed:15657874, ECO:0000269|PubMed:15805188, ECO:0000269|PubMed:17496196, ECO:0000269|PubMed:18505456, ECO:0000269|PubMed:18579543, ECO:0000269|PubMed:19483054, ECO:0000269|PubMed:25827758, ECO:0000269|PubMed:27486260, ECO:0000269|PubMed:31625278}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 144700]: Renal cell carcinoma (RCC)
Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non-papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. Clear cell renal cell carcinoma is the most common subtype. {ECO:0000269|PubMed:18794106, ECO:0000269|PubMed:23922894}. Note=The gene represented in this entry may be involved in disease pathogenesis.
Without disease ID
- A rare autosomal dominant genodermatosis characterized by hair follicle hamartomas (fibrofolliculomas), kidney tumors, and spontaneous pneumothorax. Fibrofolliculomas are part of the triad of Birt-Hogg-Dube syndrome skin lesions that also includes trichodiscomas and acrochordons. Onset of this dermatologic condition is invariably in adulthood. Birt-Hogg-Dube syndrome is associated with a variety of histologic types of renal tumors, including chromophobe renal cell carcinoma (RCC), benign renal oncocytoma, clear-cell RCC and papillary type I RCC. Multiple lipomas, angiolipomas, and parathyroid adenomas are also seen in Birt-Hogg-Dube syndrome patients. {ECO:0000269|PubMed:12204536, ECO:0000269|PubMed:15852235, ECO:0000269|PubMed:18234728, ECO:0000269|PubMed:19785621, ECO:0000269|PubMed:23784378, ECO:0000269|PubMed:31615547}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Condition in which air is present in the pleural space in the absence of a precipitating event, such as trauma or lung disease. This results in secondary collapse of the lung, either partially or completely, and some degree of hypoxia. PSP is relatively common, with an incidence between 7.4-18/100'000 for men and 1.2-6/100'000 for women and a dose-dependent, increased risk among smokers. Most cases are sporadic, typically occurring in tall, thin men aged 10-30 years and generally while at rest. Familial PSP is rarer and usually is inherited as an autosomal dominant condition with reduced penetrance, although X-linked recessive and autosomal recessive inheritance have also been suggested. {ECO:0000269|PubMed:15657874, ECO:0000269|PubMed:15805188, ECO:0000269|PubMed:17496196, ECO:0000269|PubMed:18505456, ECO:0000269|PubMed:18579543, ECO:0000269|PubMed:19483054, ECO:0000269|PubMed:25827758, ECO:0000269|PubMed:27486260, ECO:0000269|PubMed:31625278}. Note=The disease is caused by variants affecting the gene represented in this entry.
- Renal cell carcinoma is a heterogeneous group of sporadic or hereditary carcinoma derived from cells of the proximal renal tubular epithelium. It is subclassified into clear cell renal carcinoma (non-papillary carcinoma), papillary renal cell carcinoma, chromophobe renal cell carcinoma, collecting duct carcinoma with medullary carcinoma of the kidney, and unclassified renal cell carcinoma. Clear cell renal cell carcinoma is the most common subtype. {ECO:0000269|PubMed:18794106, ECO:0000269|PubMed:23922894}. Note=The gene represented in this entry may be involved in disease pathogenesis.
Functions
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| centrosome | A structure comprised of a core structure (in most organisms, a pair of centrioles) and peripheral material from which a microtubule-based structure, such as a spindle apparatus, is organized. Centrosomes occur close to the nucleus during interphase in many eukaryotic cells, though in animal cells it changes continually during the cell-division cycle. |
| cilium | A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| lysosomal membrane | The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm. |
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
| mitotic spindle | A spindle that forms as part of mitosis. Mitotic and meiotic spindles contain distinctive complements of proteins associated with microtubules. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| enzyme binding | Binding to an enzyme, a protein with catalytic activity. |
| enzyme inhibitor activity | Binds to and stops, prevents or reduces the activity of an enzyme. |
| GTPase activator activity | Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP. |
| protein-containing complex binding | Binding to a macromolecular complex. |
50 GO annotations of biological process
| Name | Definition |
|---|---|
| cell proliferation involved in kidney development | The multiplication or reproduction of cells, resulting in the expansion of the population in the kidney. |
| cell-cell junction assembly | The aggregation, arrangement and bonding together of a set of components to form a junction between cells. |
| cellular response to amino acid starvation | 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 deprivation of amino acids. |
| cellular response to starvation | 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 deprivation of nourishment. |
| energy homeostasis | Any process involved in the balance between food intake (energy input) and energy expenditure. |
| epithelial cell proliferation | The multiplication or reproduction of epithelial cells, resulting in the expansion of a cell population. Epithelial cells make up the epithelium, the covering of internal and external surfaces of the body, including the lining of vessels and other small cavities. It consists of cells joined by small amounts of cementing substances. |
| ERK1 and ERK2 cascade | An intracellular protein kinase cascade containing at least ERK1 or ERK2 (MAPKs), a MEK (a MAPKK) and a MAP3K. The cascade may involve 4 different kinases, as it can also contain an additional tier: the upstream MAP4K. The kinases in each tier phosphorylate and activate the kinase in the downstream tier to transmit a signal within a cell. |
| hemopoiesis | The process whose specific outcome is the progression of the myeloid and lymphoid derived organ/tissue systems of the blood and other parts of the body over time, from formation to the mature structure. The site of hemopoiesis is variable during development, but occurs primarily in bone marrow or kidney in many adult vertebrates. |
| in utero embryonic development | The process whose specific outcome is the progression of the embryo in the uterus over time, from formation of the zygote in the oviduct, to birth. An example of this process is found in Mus musculus. |
| intrinsic apoptotic signaling pathway | The series of molecular signals in which an intracellular signal is conveyed to trigger the apoptotic death of a cell. The pathway starts with reception of an intracellular signal (e.g. DNA damage, endoplasmic reticulum stress, oxidative stress etc.), and ends when the execution phase of apoptosis is triggered. The intrinsic apoptotic signaling pathway is crucially regulated by permeabilization of the mitochondrial outer membrane (MOMP). |
| lysosome localization | Any process in which a lysosome is transported to, and/or maintained in, a specific location. |
| negative regulation of ATP biosynthetic process | Any process that stops, prevents or reduces the frequency, rate or extent of ATP biosynthetic process. |
| negative regulation of brown fat cell differentiation | Any process that stops, prevents or reduces the frequency, rate or extent of brown fat cell differentiation. |
| negative regulation of cell growth | Any process that stops, prevents, or reduces the frequency, rate, extent or direction of cell growth. |
| negative regulation of cell migration | Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration. |
| negative regulation of cell proliferation involved in kidney development | Any process that stops, prevents or reduces the frequency, rate or extent of cell proliferation involved in kidney development. |
| negative regulation of cellular respiration | Any process that stops, prevents or reduces the frequency, rate or extent of cellular respiration. |
| negative regulation of cold-induced thermogenesis | Any process that stops, prevents, or reduces the rate of cold-induced thermogenesis. |
| negative regulation of epithelial cell proliferation | Any process that stops, prevents or reduces the rate or extent of epithelial cell proliferation. |
| negative regulation of ERK1 and ERK2 cascade | Any process that stops, prevents, or reduces the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
| negative regulation of gene expression | Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| negative regulation of glycolytic process | Any process that stops, prevents, or reduces the frequency, rate or extent of glycolysis. |
| negative regulation of mitochondrial DNA metabolic process | Any process that stops, prevents or reduces the frequency, rate or extent of mitochondrial DNA metabolic process. |
| negative regulation of mitochondrion organization | Any process that decreases the frequency, rate or extent of a process involved in the formation, arrangement of constituent parts, or disassembly of a mitochondrion. |
| negative regulation of muscle tissue development | Any process that stops, prevents or reduces the frequency, rate or extent of muscle tissue development. |
| negative regulation of post-translational protein modification | Any process that stops, prevents or reduces the frequency, rate or extent of post-translational protein modification. |
| negative regulation of protein kinase B signaling | Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B. |
| negative regulation of protein localization to nucleus | Any process that stops, prevents or reduces the frequency, rate or extent of protein localization to nucleus. |
| negative regulation of Rho protein signal transduction | Any process that stops, prevents, or reduces the frequency, rate or extent of Rho protein signal transduction. |
| negative regulation of TOR signaling | Any process that stops, prevents, or reduces the frequency, rate or extent of TOR signaling. |
| negative regulation of transcription by RNA polymerase II | Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| positive regulation of autophagy | Any process that activates, maintains or increases the rate of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm. |
| positive regulation of cell adhesion | Any process that activates or increases the frequency, rate or extent of cell adhesion. |
| positive regulation of GTPase activity | Any process that activates or increases the activity of a GTPase. |
| positive regulation of intrinsic apoptotic signaling pathway | Any process that activates or increases the frequency, rate or extent of intrinsic apoptotic signaling pathway. |
| positive regulation of protein phosphorylation | Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein. |
| positive regulation of TOR signaling | Any process that activates or increases the frequency, rate or extent of TOR signaling. |
| positive regulation of TORC1 signaling | Any process that activates or increases the frequency, rate or extent of TORC1 signaling. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| positive regulation of transforming growth factor beta receptor signaling pathway | Any process that activates or increases the frequency, rate or extent of TGF-beta receptor signaling pathway activity. |
| protein kinase B signaling | A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase B (also called AKT), which occurs as a result of a single trigger reaction or compound. |
| regulation of cytokinesis | Any process that modulates the frequency, rate or extent of the division of the cytoplasm of a cell and its separation into two daughter cells. |
| regulation of histone acetylation | Any process that modulates the frequency, rate or extent of the addition of an acetyl group to a histone protein. |
| regulation of pro-B cell differentiation | Any process that modulates the frequency, rate or extent of pro-B cell differentiation. |
| regulation of protein phosphorylation | Any process that modulates the frequency, rate or extent of addition of phosphate groups into an amino acid in a protein. |
| regulation of Ras protein signal transduction | Any process that modulates the frequency, rate or extent of Ras protein signal transduction. |
| regulation of TOR signaling | Any process that modulates the frequency, rate or extent of TOR signaling. |
| TOR signaling | The series of molecular signals mediated by TOR (Target of rapamycin) proteins, members of the phosphoinositide (PI) 3-kinase related kinase (PIKK) family that act as serine/threonine kinases in response to nutrient availability or growth factors. |
| transforming growth factor beta receptor signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to a transforming growth factor beta receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P53237 | LST7 | Protein LST7 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q3B7L5 | FLCN | Folliculin | Bos taurus (Bovine) | PR |
| Q8QZS3 | Flcn | Folliculin | Mus musculus (Mouse) | PR |
| Q76JQ2 | Flcn | Folliculin | Rattus norvegicus (Rat) | PR |
| Q5M7Q1 | flcn | Folliculin | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MNAIVALCHF | CELHGPRTLF | CTEVLHAPLP | QGDGNEDSPG | QGEQAEEEEG | GIQMNSRMRA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| HSPAEGASVE | SSSPGPKKSD | MCEGCRSLAA | GHPGYISHDK | ETSIKYVSHQ | HPSHPQLFSI |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VRQACVRSLS | CEVCPGREGP | IFFGDEQHGF | VFSHTFFIKD | SLARGFQRWY | SIITIMMDRI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| YLINSWPFLL | GKVRGIIDEL | QGKALKVFEA | EQFGCPQRAQ | RMNTAFTPFL | HQRNGNAARS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LTSLTSDDNL | WACLHTSFAW | LLKACGSRLT | EKLLEGAPTE | DTLVQMEKLA | DLEEESESWD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| NSEAEEEEKA | PVLPESTEGR | ELTQGPAESS | SLSGCGSWQP | RKLPVFKSLR | HMRQVLGAPS |
| 370 | 380 | 390 | 400 | 410 | 420 |
| FRMLAWHVLM | GNQVIWKSRD | VDLVQSAFEV | LRTMLPVGCV | RIIPYSSQYE | EAYRCNFLGL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| SPHVQIPPHV | LSSEFAVIVE | VHAAARSTLH | PVGCEDDQSL | SKYEFVVTSG | SPVAADRVGP |
| 490 | 500 | 510 | 520 | 530 | 540 |
| TILNKIEAAL | TNQNLSVDVV | DQCLVCLKEE | WMNKVKVLFK | FTKVDSRPKE | DTQKLLSILG |
| 550 | 560 | 570 | |||
| ASEEDNVKLL | KFWMTGLSKT | YKSHLMSTVR | SPTASESRN |