P12830
PR
Gene name |
CDH1 (CDHE, UVO) |
Protein name |
Cadherin-1 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:999 |
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
22 structures for P12830
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1O6S | X-ray | 180 A | B | 156-255 | PDB |
| 2O72 | X-ray | 200 A | A | 155-367 | PDB |
| 2OMT | X-ray | 200 A | B | 156-255 | PDB |
| 2OMU | X-ray | 180 A | B | 156-255 | PDB |
| 2OMV | X-ray | 190 A | B | 156-255 | PDB |
| 2OMX | X-ray | 170 A | B | 156-258 | PDB |
| 2OMY | X-ray | 170 A | B | 156-254 | PDB |
| 2OMZ | X-ray | 160 A | B | 156-254 | PDB |
| 3FF7 | X-ray | 180 A | A/B | 155-253 | PDB |
| 3FF8 | X-ray | 200 A | A/B | 155-254 | PDB |
| 3L6X | X-ray | 240 A | B | 756-773 | PDB |
| 3L6Y | X-ray | 300 A | B/D/F | 756-773 | PDB |
| 4ZT1 | X-ray | 192 A | A/B | 157-367 | PDB |
| 4ZTE | X-ray | 213 A | A/B | 157-367 | PDB |
| 6CXY | X-ray | 220 A | C | 155-371 | PDB |
| 6OLE | EM | 310 A | y | 693-730 | PDB |
| 6OLF | EM | 390 A | y | 693-730 | PDB |
| 6OLG | EM | 340 A | A | 693-730 | PDB |
| 6VEL | X-ray | 265 A | C | 155-371 | PDB |
| 7STZ | X-ray | 295 A | C/D | 155-698 | PDB |
| 8H62 | X-ray | 191 A | B | 155-367 | PDB |
| AF-P12830-F1 | Predicted | AlphaFoldDB |
1711 variants for P12830
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000570172 RCV000230267 RCV000759733 rs878854691 |
1 | M>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001525446 rs1555509623 RCV000639275 |
1 | M>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000566678 RCV000639234 rs1555509623 RCV001310106 |
1 | M>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002420724 RCV000639240 rs1555509622 |
1 | M>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878854692 CA396451206 RCV000777434 |
2 | G>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000484462 CA187442 RCV000163100 RCV000458853 rs786201212 |
2 | G>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000231609 RCV002354656 rs878854692 CA10583400 RCV003126644 |
2 | G>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000131602 RCV001535715 RCV001197870 CA294410 rs587782484 RCV001284473 RCV000168464 RCV001798454 RCV000212345 |
3 | P>R | Hereditary diffuse gastric adenocarcinoma Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16620227 rs1064793079 RCV002418495 RCV000485012 RCV000817256 |
3 | P>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1064793079 CA396451215 RCV000773783 |
3 | P>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555509636 RCV000662736 RCV002386135 CA396451249 |
4 | W>* | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1962423346 RCV001713069 RCV001176687 |
4 | W>* | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555509637 CA396451260 RCV000559657 RCV002395361 |
5 | S>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001060669 rs998138284 |
5 | S>N | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8129772 RCV001344082 rs746464544 |
6 | R>L | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001184116 rs1962424166 |
7 | S>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001014436 RCV001035280 CA396451307 rs1310934198 |
7 | S>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001015110 CA396451318 rs1234138761 RCV001369573 |
8 | L>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555509646 CA396451339 RCV001191172 RCV000807442 RCV001284128 |
9 | S>* | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396451336 RCV002440262 rs1555509645 RCV000639268 |
9 | S>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396451343 rs1555509646 RCV000802433 RCV000561107 |
9 | S>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000732057 rs1375360857 RCV002440560 RCV000709391 CA396451352 |
10 | A>E | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1962425092 RCV001243837 |
10 | A>GL | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001175961 rs1053572488 |
10 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000804491 CA283273446 rs1053572488 RCV002440707 |
10 | A>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA396451354 RCV002440261 RCV000639226 rs1375360857 |
10 | A>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1393903966 RCV001322612 |
11 | L>P | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396451371 RCV002458331 rs1393903966 RCV000709392 |
11 | L>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs587782476 RCV000772815 |
13 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587782476 RCV000480757 RCV000473416 RCV000131585 |
14 | L>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000579612 RCV000481833 rs587782476 RCV000206215 |
15 | L>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs370614162 RCV000699278 RCV003223670 CA283273479 RCV002257942 |
15 | L>Q | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs587782476 RCV000989616 |
15 | L>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs749591910 RCV000475151 CA8129778 RCV002341708 RCV001343962 |
16 | Q>H | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000772459 CA396451425 RCV001219565 rs775705607 |
16 | Q>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA16614951 RCV000456580 rs780470521 |
17 | V>L | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1962455626 RCV001228588 |
19 | S>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16614953 RCV000465064 rs1042391377 RCV001024313 |
19 | S>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000574640 rs1221633501 RCV001865714 CA396451616 |
19 | S>C | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1221633501 CA396451618 RCV001024425 RCV001207327 |
19 | S>F | Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000013026 CA280996 rs121964875 COSM19502 |
20 | W>* | Hereditary diffuse gastric adenocarcinoma breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000991085 rs786203576 COSM19502 CA197127 RCV000166954 |
20 | W>* | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000793152 RCV002352316 rs121964875 CA396451633 |
20 | W>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA338485 RCV000199237 rs863224729 RCV001525987 |
21 | L>F | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA10577531 RCV000639276 RCV000213718 rs863224729 |
21 | L>I | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA16620229 rs1064794920 RCV001525071 RCV000486805 RCV001856851 |
21 | L>P | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000222019 RCV000456561 CA10580066 rs863224729 |
21 | L>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1555509758 RCV001247235 CA396451671 RCV000575835 |
22 | C>Y | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002365978 RCV001216821 rs1962456814 |
23 | Q>* | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001036971 rs1962456890 |
23 | Q>L | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000013027 RCV002362580 CA280997 rs121964876 |
24 | E>* | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396451711 rs121964876 RCV001026038 |
24 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1485238301 CA396451753 RCV001230187 RCV001026504 |
25 | P>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000162463 CA186314 rs786201058 RCV000797095 |
26 | E>* | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001026730 rs786201058 RCV001302003 CA396451761 |
26 | E>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000223374 rs786201058 CA10580068 RCV000410130 |
26 | E>Q | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396451791 RCV001224958 RCV001027177 rs1597838536 |
27 | P>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000679582 rs878854696 RCV000226798 CA10583401 RCV000582299 |
27 | P>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001215669 rs1962457888 |
28 | C>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555509761 RCV000772600 RCV000639282 CA396451840 |
29 | H>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396451833 RCV000698861 rs1254266267 |
29 | H>Y | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000214994 RCV001219839 CA10580069 rs876660408 |
30 | P>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
COSM20783 RCV000123256 RCV001798349 RCV000586357 CA151524 RCV002490779 RCV000115864 rs139866691 RCV000120508 RCV000148455 |
30 | P>T | Hereditary diffuse gastric adenocarcinoma Breast and/or ovarian cancer Orofacial cleft Hereditary cancer-predisposing syndrome Familial cancer of breast breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000816009 CA396451875 rs1131690823 |
31 | G>A | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1131690823 RCV001019135 RCV001223352 CA396451873 |
31 | G>D | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000492686 RCV000639264 rs1131690823 CA396451877 |
31 | G>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396451935 rs1597838607 RCV001019968 |
33 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000812190 CA396451930 rs1597838602 |
33 | D>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002438351 RCV000555305 rs1486768673 CA396451968 |
34 | A>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA396451962 RCV001355198 rs1486768673 RCV001183539 |
34 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001193904 rs1597838625 |
35 | E>* | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876660131 RCV000562387 RCV000478504 RCV000691907 CA16620230 |
35 | E>D | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003166090 rs1597838625 RCV000792301 CA396451991 |
35 | E>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001070932 RCV001017189 CA396452023 rs1555509773 |
36 | S>C | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396452020 rs1555509773 RCV000573106 |
36 | S>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16620231 RCV000479808 rs1064794682 RCV001805100 RCV001373026 |
36 | S>N | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA196635 RCV000166751 RCV001850354 rs786203442 |
38 | T>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs587778171 RCV000536623 CA8129795 RCV000222770 |
38 | T>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000563709 RCV000120507 CA157971 rs587778171 RCV000814183 RCV000766546 |
38 | T>M | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA396452065 RCV000579397 RCV000686759 rs786203442 |
38 | T>P | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002348691 rs1962460411 RCV001210816 |
40 | T>M | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786202465 CA396452116 RCV000688401 RCV000567291 |
41 | V>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA192978 rs786202465 RCV000165286 |
41 | V>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000215517 RCV000991097 rs876658865 |
42 | P>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10580073 rs876659333 RCV000461065 RCV000214968 RCV000759726 |
42 | P>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001844274 rs876659333 RCV001231957 RCV003148952 |
42 | P>R | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001306798 rs1962460692 |
42 | P>S | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001188060 rs1962461060 |
43 | R>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001222062 rs1962461060 |
43 | R>Q | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1962460987 RCV001225728 RCV003163759 |
43 | R>W | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000566670 rs1375178645 CA396452183 RCV002526827 |
44 | R>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1962461369 RCV001215950 |
45 | H>L | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555509778 CA396452212 RCV000571979 |
46 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1410833063 RCV001351078 |
46 | L>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396452267 RCV001205421 RCV000562899 rs1060501223 |
49 | G>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000473027 CA16614932 rs1060501223 RCV002393099 |
49 | G>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000216058 CA10580074 rs876659739 |
50 | R>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555509780 RCV000575586 CA396452285 |
51 | V>I | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1367719041 RCV001323516 |
52 | L>P | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000222464 rs876659692 CA10580075 |
53 | G>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876659692 RCV000580029 CA396452319 |
53 | G>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000474006 RCV000129074 CA293951 rs587781329 RCV000212346 |
54 | R>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000549869 RCV000215888 rs876658680 CA10580076 |
54 | R>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000469215 CA8129808 rs587778174 |
55 | V>A | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA157980 RCV000119234 RCV000656817 RCV000120511 rs587778174 RCV000131233 |
55 | V>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA396452334 rs1597838766 RCV001012528 |
55 | V>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000473205 rs1060501227 CA16615356 |
56 | N>D | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1960504225 RCV001190803 |
57 | F>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002510895 RCV000572545 CA16615359 RCV000460113 rs1060501234 |
58 | E>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA193402 rs786202570 RCV000165435 RCV000483154 RCV000471758 |
58 | E>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000411078 rs587780116 RCV000115847 CA288045 RCV000234870 |
59 | D>E | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1960504905 RCV001226552 |
60 | C>S | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396457121 RCV000557834 rs786203727 COSM19514 |
62 | G>D | Hereditary diffuse gastric adenocarcinoma breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
rs587781898 RCV000686004 CA396457119 |
62 | G>R | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587781898 COSM1379136 CA166005 RCV000232399 RCV000589761 RCV000855640 RCV000130235 |
62 | G>S | Hereditary diffuse gastric adenocarcinoma large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs786203727 RCV000167156 RCV001193299 RCV000793742 CA197629 RCV002273968 |
62 | G>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000144590 RCV000563489 rs587783047 CA333496 COSM435585 |
63 | R>* | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA288048 rs587780117 RCV000679566 RCV001762232 RCV001796964 RCV000226241 RCV000115848 |
63 | R>Q | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA396457136 rs1478145907 RCV001190221 |
65 | R>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA348998 RCV000218936 RCV001357589 RCV001557829 RCV000204809 rs730881660 |
67 | A>D | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001192626 RCV000160381 RCV000458777 RCV001014024 CA298962 rs730881660 |
67 | A>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16615361 RCV000479101 RCV000574938 rs1060501247 RCV000465459 |
67 | A>T | Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
rs786202151 RCV000164820 RCV000685278 RCV000479654 |
68 | Y>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001732013 rs1284989530 RCV001216703 CA396457153 RCV001766836 RCV001014165 |
68 | Y>C | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060501218 RCV000463675 RCV002480372 RCV000566254 CA16615365 |
68 | Y>D | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1190318676 CA396457164 RCV000581916 |
69 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000774143 rs1567501079 CA396457157 |
69 | F>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000545409 rs1555514406 RCV000657349 |
70 | S>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA165879 rs587781862 RCV000801913 RCV000130176 |
70 | S>P | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002415865 rs587781862 CA349131 RCV000204939 |
70 | S>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001299324 rs1555514408 |
71 | L>F | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396457169 rs1555514408 RCV000639265 |
71 | L>I | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001035421 CA8129811 rs35606263 |
72 | D>H | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA294297 RCV000131154 RCV000123243 rs35606263 RCV000656818 RCV000235149 VAR_048500 |
72 | D>N | Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001014706 rs1597884637 |
73 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000774144 CA396457186 rs1555514410 |
73 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555514410 RCV000565286 CA396457184 RCV001800766 RCV000707243 |
73 | T>N | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM25265 CA10583404 RCV000763384 RCV003223631 rs876658932 RCV000227616 RCV000567709 |
74 | R>* | Hereditary diffuse gastric adenocarcinoma large_intestine Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Familial cancer of breast breast [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000218864 CA10580077 RCV000687009 rs876658932 |
74 | R>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs761562625 RCV001014835 CA396457188 RCV001756061 RCV000639229 |
74 | R>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8129812 RCV000524812 TCGA novel rs761562625 |
74 | R>P | Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD NCI-TCGA |
|
CA396457187 rs761562625 COSM1379139 RCV002245002 RCV000550917 RCV000567326 |
74 | R>Q | Hereditary diffuse gastric adenocarcinoma large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA163800 RCV000129093 rs587781336 |
75 | F>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000464249 CA8129814 RCV002446797 rs767019668 RCV000581517 CA8129813 |
75 | F>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA167218 RCV000554536 RCV000130841 RCV001800438 rs587782193 |
75 | F>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001015076 rs1260273251 CA396457199 |
76 | K>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001015034 rs1597884664 CA396457196 |
76 | K>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597884672 RCV001015106 CA396457203 |
77 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000811699 rs1597884672 RCV002453835 CA396457201 |
77 | V>M | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396457210 rs587781404 RCV000797703 |
78 | G>A | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA164064 rs587781404 RCV000230648 RCV000679570 RCV000129255 |
78 | G>D | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
CA349228 rs864622477 RCV000205065 |
78 | G>S | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001178558 CA283291297 RCV001875904 rs745327620 |
79 | T>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876658359 RCV000217533 CA10580078 RCV001753657 |
79 | T>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396457216 rs1555514423 RCV000571275 |
80 | D>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501225 CA16615366 RCV000477208 RCV002446796 |
81 | G>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001220459 rs1960510759 |
81 | G>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001183178 rs942284129 RCV001225956 |
82 | V>E | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA283291324 RCV003166869 rs942284129 RCV001322138 |
82 | V>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA396457229 RCV000775708 RCV001245903 rs1064793867 |
82 | V>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001015580 RCV000639230 rs1064793867 RCV000482425 CA16620232 |
82 | V>M | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001180067 rs1960511670 |
83 | I>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001346290 rs1960511548 RCV002456501 |
83 | I>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000204522 RCV000569606 CA348746 rs754388534 RCV000480914 |
84 | T>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000569815 RCV000587445 RCV000229392 CA10583406 rs878854688 |
85 | V>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1555514427 RCV000565577 CA396457244 |
85 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000584323 rs1160169015 CA396457253 |
86 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555514429 RCV000532595 |
87 | R>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001180177 RCV001875974 rs1960512598 |
87 | R>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000227212 CA10583407 RCV000574364 rs878854689 RCV001540108 |
87 | R>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1381409755 RCV003150282 CA396457265 RCV000799734 RCV000565051 |
88 | P>R | Hereditary diffuse gastric adenocarcinoma Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA8129818 RCV002269273 RCV001187078 rs779313390 RCV000463685 |
88 | P>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs779313390 RCV000557751 CA8129819 |
88 | P>T | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs587782647 RCV001059836 |
90 | R>P | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555514433 RCV000571292 CA658658477 |
90 | R>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000482830 rs587782647 CA169145 RCV000132054 RCV000200245 |
90 | R>Q | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA298965 rs730881661 RCV000212347 RCV000410067 RCV000160382 |
90 | R>W | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001524469 CA8129822 rs770967343 RCV000639211 |
92 | H>Q | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001246794 rs1960514281 |
93 | N>Y | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16620233 rs1064793862 RCV000481538 RCV000773200 |
94 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001805167 rs781409616 CA8129823 RCV000546548 |
95 | Q>* | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001525627 rs1960514915 RCV001208205 |
95 | Q>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000473818 CA192684 RCV000165180 RCV001375526 rs749306433 |
96 | I>F | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000572777 RCV000438540 RCV000679572 CA349520 RCV000205362 rs749306433 |
96 | I>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002260610 rs587778173 RCV000218851 RCV000120510 CA157977 RCV000705105 |
97 | H>D | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002436938 rs1177900932 CA396457326 RCV001238353 COSM972776 |
98 | F>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
rs1555514451 CA396457323 RCV000572193 |
98 | F>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000690751 rs1555514454 RCV000572185 CA396457338 |
100 | V>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000688966 rs1064793437 CA396457336 |
100 | V>F | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000775935 RCV000821233 RCV000479592 CA16620234 rs1064793437 |
100 | V>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396457349 rs786202689 RCV000583486 |
102 | A>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001818399 RCV000479588 RCV000639246 RCV000167482 CA198423 rs368492235 |
102 | A>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001354841 RCV000374968 CA294451 RCV000212348 RCV001762317 RCV000131780 RCV000586036 rs368492235 |
102 | A>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000165626 CA193857 rs786202689 |
102 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000567076 RCV000807991 CA396457352 rs1555514464 |
103 | W>* | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002268263 RCV000774761 rs760351575 RCV000704097 CA8129827 |
104 | D>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
RCV000639260 rs1165815510 CA396457365 RCV000777364 |
105 | S>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000991083 RCV002323838 rs1064795703 RCV000486371 |
106 | T>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587780122 CA288070 RCV000115861 RCV001018943 |
106 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001193903 rs765929630 |
107 | Y>* | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060501241 RCV000468950 CA16614957 RCV000575896 |
107 | Y>C | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000692854 rs587778172 RCV000120509 RCV001354907 CA157974 RCV000580672 |
108 | R>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1960519159 RCV001054674 |
109 | K>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000463382 RCV000487251 rs587782023 RCV000130456 CA166462 |
109 | K>Q | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1960519396 RCV001219280 RCV002322060 |
110 | F>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396457409 rs1567501376 COSM1732281 RCV000700206 |
111 | S>F | Hereditary diffuse gastric adenocarcinoma bone [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1960519552 RCV001242685 |
111 | S>P | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876661106 CA10577535 RCV000991088 RCV000220040 |
113 | K>* | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
COSM1302174 RCV000572873 rs876661106 RCV000463944 RCV000217135 CA10577534 |
113 | K>E | Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome urinary_tract [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001058758 rs1960520003 |
113 | K>T | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000129106 rs370973869 RCV000197330 CA293962 RCV000212350 |
115 | T>M | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001213279 rs370973869 |
115 | T>R | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000774762 rs758733846 RCV001873149 CA8129829 |
117 | N>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001323638 RCV000772201 CA396457441 rs758733846 |
117 | N>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA396457446 rs1555514476 RCV000556819 |
118 | T>A | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002512549 CA169264 RCV000132103 rs587782677 |
118 | T>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396457454 RCV000818290 rs1597884955 |
119 | V>G | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000487213 RCV000639245 rs786203849 RCV000167336 CA198036 |
119 | V>M | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001853609 RCV000213499 rs751789834 CA8129831 |
120 | G>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA396457455 RCV000810901 RCV001020669 rs751789834 |
120 | G>W | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs878854690 RCV001009607 RCV000227876 |
121 | H>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396457460 rs1305026083 RCV002451455 RCV001210304 |
121 | H>N | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001873165 RCV000777110 RCV000706606 CA396457466 rs781427897 CA8129833 |
121 | H>Q | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1597884981 CA915949295 RCV002458450 RCV000799594 |
121 | H>QD | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000217115 rs140123339 CA10580082 |
122 | H>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP dbSNP |
|
CA8129835 rs373668742 RCV001230694 RCV000582606 |
122 | H>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001020799 CA283291536 rs528816701 RCV001545057 RCV000639287 |
122 | H>Y | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA396457472 RCV000819728 rs1555514482 |
123 | H>D | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002458040 RCV000639233 rs1555514482 CA396457471 |
123 | H>N | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002516501 RCV000166535 CA196118 RCV001354427 rs778954591 RCV000639218 |
123 | H>Q | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000165782 RCV001762381 RCV000703362 rs786202794 CA194196 |
123 | H>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs748086082 RCV001824700 RCV000565531 RCV001582781 CA8129836 RCV000233582 |
124 | R>C | Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000535278 RCV000130108 CA294161 rs115418995 RCV001355829 RCV003153420 RCV000732060 |
124 | R>H | Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Ovarian cancer [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001570949 RCV000130746 rs115418995 RCV000639206 CA167024 |
124 | R>P | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs748086082 RCV001297885 |
124 | R>S | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000160383 rs730881662 RCV000809535 RCV000217007 CA298968 |
125 | P>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002348301 rs1060501215 RCV000507242 RCV000473473 |
126 | P>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001030610 RCV000765302 rs746703615 RCV000163916 RCV000679573 RCV000465184 CA189509 |
126 | P>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8129839 rs746703615 RCV001178559 RCV000535540 |
126 | P>Q | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000587043 CA8129838 RCV002350416 rs746703615 RCV001860136 |
126 | P>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA396457487 RCV000557094 rs1555514491 |
126 | P>S | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002256660 RCV001049836 rs1060501215 |
127 | P>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060501250 RCV000477167 CA16615215 |
127 | P>T | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555514492 RCV000571499 RCV000576815 RCV002483545 |
128 | H>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000687705 rs1567501500 RCV002343438 |
128 | H>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1960525322 RCV001229329 |
128 | H>R | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000582729 CA8129840 RCV000822348 RCV000508524 rs376152506 |
128 | H>Y | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM558824 RCV001021344 RCV001861016 rs764700595 CA8129841 |
129 | Q>H | lung Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA396457504 rs1597885088 RCV001021322 |
129 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001181211 rs1960723934 RCV002558996 |
130 | A>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001180916 rs142498771 RCV001876005 |
132 | V>F | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs142498771 CA168677 RCV000204503 RCV001194008 RCV000131738 COSM1379141 RCV000221311 |
132 | V>I | Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA396457541 RCV000706701 RCV000474205 CA16615367 rs1060501220 |
134 | G>R | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001021773 RCV000519747 CA283296801 rs1047878465 |
135 | I>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001060533 RCV000574925 rs1555515189 CA396457548 |
135 | I>N | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002325480 RCV000780093 RCV001214043 rs753886948 CA8129863 |
136 | Q>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000563197 CA396457553 rs1184630483 |
136 | Q>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000703074 CA396457555 RCV001759401 RCV000777317 rs1184630483 |
136 | Q>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000223635 RCV000466626 CA10580083 rs876658797 |
137 | A>P | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000775844 CA396457558 RCV002535550 rs876658797 |
137 | A>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA349332 RCV000205131 rs864622284 RCV002327062 |
138 | E>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001021997 rs1057521858 RCV000706184 CA396457575 |
139 | L>F | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs758277885 CA8129864 RCV001232088 RCV002327554 |
140 | L>F | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001191633 CA396457599 rs777714207 RCV000639272 |
143 | P>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA10577536 RCV001022203 COSM1609555 RCV000215248 RCV002519751 rs876661226 |
143 | P>S | Hereditary diffuse gastric adenocarcinoma liver Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV002549551 RCV001022285 rs1597890516 CA396457604 |
144 | N>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001180137 RCV002560798 rs1960726290 |
145 | S>Y | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001524441 CA8129866 RCV000625762 rs751425296 |
146 | S>C | Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA396457615 RCV001022373 rs1597890526 |
146 | S>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001195168 RCV000583014 rs1555515197 |
147 | P>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000131795 CA168771 RCV001840051 RCV000639257 rs587782571 |
147 | P>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA396457621 RCV002332476 RCV000700071 rs1567504538 |
147 | P>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001182395 RCV000781212 rs1567504543 RCV000801723 CA396457625 |
148 | G>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1960726961 RCV001190725 RCV002298897 |
148 | G>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876658781 CA10580084 RCV000214362 |
149 | L>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000166436 RCV001574163 RCV000410957 rs780955025 CA195868 |
149 | L>P | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001302751 rs876658781 |
149 | L>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597890578 RCV001022584 CA396457638 |
150 | R>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501213 RCV002339139 RCV000473387 CA16614947 |
151 | R>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555515210 RCV001195166 RCV000584690 RCV000657353 |
152 | Q>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1131690815 RCV000991079 RCV000657322 |
152 | Q>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396457648 rs1555515211 RCV000506785 RCV000570464 RCV001316618 |
152 | Q>E | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000167046 CA197362 RCV001753567 rs745589555 RCV001297270 |
152 | Q>H | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001048757 rs1233421331 |
152 | Q>P | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396457651 RCV001187964 RCV001876202 rs1233421331 |
152 | Q>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
rs1555515214 RCV000581892 RCV000991089 |
153 | K>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000689578 CA396457656 rs1567504575 |
153 | K>* | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001078228 rs1131690815 RCV000492486 |
154 | R>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597890615 CA396457676 RCV001022857 RCV001862232 |
155 | D>E | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396457680 rs1555515215 RCV000525870 |
156 | W>* | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000991087 RCV000218005 CA10577537 rs876661107 |
156 | W>* | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000144589 rs587783046 CA281456 |
157 | V>A | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001317710 rs1960728608 |
157 | V>I | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1960728762 RCV001214345 |
158 | I>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000563868 RCV001195169 rs1555515217 |
161 | I>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000772852 rs1567504603 CA396457721 RCV002534036 |
162 | S>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001078226 CA16620236 RCV000480530 rs1064794230 |
163 | C>* | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8129869 RCV000574597 RCV000484023 rs748783182 RCV000228101 |
163 | C>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002341318 rs1064794230 CA396457729 RCV000529493 |
163 | C>W | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs748783182 RCV001215206 |
163 | C>Y | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396457731 rs1597890670 RCV001023249 RCV001372199 |
164 | P>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396457751 rs1555515224 RCV000554684 RCV001191180 |
166 | N>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000206273 CA350337 RCV000590271 RCV000220446 rs769076258 |
167 | E>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1483883033 RCV000639213 CA396457763 RCV001023455 RCV003144412 |
168 | K>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000204728 rs864622655 RCV002336568 |
169 | G>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001862262 CA396457767 rs1597890692 RCV001023488 |
169 | G>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396457775 rs1284865285 RCV001241171 |
170 | P>S | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA8129871 RCV000529730 RCV000579712 rs772622109 RCV000480184 |
171 | F>C | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs762388314 RCV001189867 |
171 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000128977 RCV000479605 rs587781290 RCV002273957 RCV000991078 |
174 | N>missing | Breast lobular carcinoma Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001326805 rs1960730617 |
174 | N>D | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001305475 rs1597890718 |
174 | N>I | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8129872 RCV000571602 rs571581856 RCV000469682 RCV000484145 |
174 | N>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1597890718 CA396457804 RCV001023748 |
174 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001195176 rs1555515232 RCV000569995 CA396457818 |
177 | Q>* | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555515244 CA396457842 RCV000736292 RCV000588871 |
179 | K>E | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396457865 RCV000584034 rs1555515245 |
182 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA163740 RCV000129061 RCV000485548 RCV001844046 RCV001354143 rs201141645 RCV001081944 |
182 | K>N | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001229153 rs1960735700 |
183 | D>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001312724 rs1960736116 |
183 | D>G | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000814393 RCV000561775 rs1555515248 CA396457883 |
184 | K>N | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001024234 rs1597890963 |
185 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000460766 CA16614963 rs1060501228 |
185 | E>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567504752 CA396457897 RCV003163165 RCV000693136 |
186 | G>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001345028 RCV000219361 RCV000561683 CA8129894 rs775484115 |
188 | V>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000130285 RCV001357522 rs376102028 CA166100 RCV000679578 RCV000639219 |
192 | I>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
rs1597891014 CA396457942 RCV001071271 RCV001024520 |
193 | T>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA283297131 RCV001184066 rs970086859 RCV002298886 |
193 | T>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001181511 rs1960737674 |
194 | G>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1960737851 RCV002467455 RCV001268290 |
195 | Q>* | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396457958 RCV001225692 RCV000567664 rs1555515262 |
195 | Q>H | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000562959 CA396457973 RCV001039924 rs1308439785 |
198 | D>H | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000581132 CA396457974 rs1308439785 |
198 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000560934 RCV001260565 rs1555515264 |
199 | T>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs750249747 RCV001024730 CA8129896 |
199 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs750249747 CA396457982 RCV000566758 RCV001203413 |
199 | T>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs876658424 RCV000462620 CA10580087 RCV001280573 RCV000223207 RCV001582742 |
199 | T>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA396457987 RCV000543706 rs1555515266 |
200 | P>L | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001177699 RCV001320788 rs1960738612 |
200 | P>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000809357 RCV000574170 rs146777134 CA396457993 |
201 | P>H | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001302621 rs146777134 RCV002357099 |
201 | P>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8129897 RCV000639285 RCV000571741 rs146777134 RCV000484451 |
201 | P>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1131690809 RCV001078227 RCV000492348 RCV000522621 |
202 | V>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA163776 RCV000129079 RCV000588677 rs546716073 RCV000226583 RCV000120512 |
202 | V>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA10580088 rs546716073 RCV000216760 RCV000505993 RCV000991094 |
202 | V>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1215319435 RCV001856044 RCV000773351 CA396458000 |
203 | G>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1215319435 RCV000695606 CA396458001 RCV001024874 |
203 | G>S | Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
CA8129899 RCV001067608 rs754581268 |
204 | V>A | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001234061 rs876661028 |
204 | V>F | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000221294 rs876661028 RCV000698915 CA10577538 |
204 | V>I | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001046238 RCV001180558 rs1960739930 |
205 | F>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000736289 CA396458013 rs1567504835 |
205 | F>S | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001218347 RCV001586060 RCV002356930 CA396458019 rs1254143781 |
206 | I>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA396458016 RCV000590684 RCV001805198 rs1004655282 RCV001303972 |
206 | I>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA8129900 RCV001212222 rs778570149 RCV000774764 |
207 | I>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA283297211 RCV000568330 rs898610512 RCV001038894 |
208 | E>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000468759 rs1060501243 CA16615222 |
209 | R>K | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000687454 CA396458039 rs371601956 |
209 | R>S | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000811242 rs1597891145 |
211 | T>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA283297215 RCV000985662 RCV000691666 RCV002493177 rs587781766 RCV001025131 |
211 | T>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA165493 RCV000129994 RCV001551785 rs587781766 RCV001300329 |
211 | T>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000562055 rs1555515276 CA396458057 RCV000736283 |
212 | G>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567504890 RCV000687455 CA396458063 |
213 | W>L | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555515277 RCV000575669 RCV001858094 CA396458058 |
213 | W>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1960741733 RCV001224024 |
214 | L>P | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA166312 RCV000130391 rs587781989 |
216 | V>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000703043 rs1567504901 CA396458086 |
217 | T>A | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs778382252 RCV000216872 CA10580089 RCV001323284 |
217 | T>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA349440 RCV000569411 RCV000205264 RCV000985663 rs778382252 |
217 | T>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000481519 RCV000228318 CA10583409 RCV002271478 RCV001025385 rs878854693 |
218 | E>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555515280 RCV000558519 CA396458089 RCV000563958 |
218 | E>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555515284 RCV001002307 RCV000578321 RCV000759015 |
219 | P>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003160397 rs1960742618 RCV001050916 |
219 | P>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002365625 RCV000461511 rs1060501216 CA16615370 |
219 | P>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002256253 rs1060501246 CA16615226 RCV000470596 |
220 | L>M | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555515287 CA396458115 RCV001193865 RCV000536984 RCV002367840 |
222 | R>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001798348 RCV000212353 RCV002490778 RCV000123253 COSM1379142 RCV000115863 RCV001357912 RCV000207407 RCV000858545 CA288074 rs200310662 |
224 | R>C | Hereditary diffuse gastric adenocarcinoma Breast and/or ovarian cancer large_intestine Hereditary cancer-predisposing syndrome Familial cancer of breast Anophthalmia-microphthalmia syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000129943 RCV000216097 RCV000034708 rs201511530 RCV000320751 CA165387 COSM972782 |
224 | R>H | Hereditary diffuse gastric adenocarcinoma 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 |
|
CA298971 RCV000524633 RCV000568270 rs201511530 RCV000781206 RCV000160384 |
224 | R>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001800441 RCV000131242 RCV001857456 CA167838 rs200310662 |
224 | R>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000579503 CA396458132 rs1555515290 |
225 | I>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA195818 rs786203207 RCV001824656 RCV000166415 RCV000168059 |
225 | I>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001025595 rs1555515290 RCV001862333 CA396458131 |
225 | I>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555515292 RCV000534929 RCV001189379 CA396458141 |
226 | A>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001856868 RCV000564114 rs1064796018 CA16620239 RCV000483491 |
227 | T>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1960744183 RCV001310105 |
228 | Y>* | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597891240 RCV001025712 CA396458151 RCV001862340 |
228 | Y>C | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001063533 CA396458383 rs1555515422 RCV000574198 |
232 | S>C | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501214 RCV000466995 |
233 | H>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001067759 RCV000217590 CA10580090 rs115494727 COSM35880 |
233 | H>Q | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001186801 CA396458386 COSM1379143 rs1352098199 |
233 | H>Y | large_intestine Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
CA10583410 RCV001025923 rs878854694 RCV000232292 |
234 | A>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1960779838 RCV001206952 |
235 | V>M | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs730881663 RCV000991092 CA298974 RCV000160385 |
236 | S>* | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1960780087 RCV001300061 RCV001190351 |
237 | S>C | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000160386 RCV000561727 RCV001762349 RCV000528259 rs730881664 CA298977 |
238 | N>H | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000119150 CA298980 RCV000507875 RCV000160387 rs587780537 RCV002483202 |
239 | G>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000492558 RCV000663083 RCV001556341 rs1131690819 |
240 | N>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000767163 RCV000575157 rs587780788 RCV000123254 RCV000486588 CA332839 |
240 | N>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001026181 RCV001862358 CA396458474 rs1267605366 |
241 | A>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA396458467 rs1555515434 RCV000561381 |
241 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA166473 RCV000480312 rs111662525 RCV000130460 RCV000204783 |
242 | V>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000698453 RCV000486442 RCV000568819 CA16620242 VAR_008712 rs1064794231 |
244 | D>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome DGLBC [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
rs1960781848 RCV001776162 RCV001237905 |
246 | M>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567505668 RCV000773508 CA396458540 |
247 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555515437 CA396458534 RCV000582967 COSM1709329 |
247 | E>K | Hereditary cancer-predisposing syndrome skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1555515438 CA396458556 RCV000553471 RCV001525111 |
248 | I>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396458573 rs1597892398 RCV001036603 RCV001026489 |
250 | I>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396458589 RCV001302588 RCV001034592 rs1454205778 RCV001178778 |
251 | T>M | Cleft lip with or without cleft palate Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001342367 rs1960782710 RCV002395748 |
252 | V>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1358319984 RCV000701764 RCV000574325 CA396458592 |
252 | V>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs776503962 RCV001858160 RCV000572481 CA8129929 |
253 | T>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
COSM94051 rs1555515445 CA396458612 RCV001026623 RCV000736291 |
254 | D>H | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001784567 RCV001034593 rs1555515445 RCV001297742 |
254 | D>N | Cleft lip with or without cleft palate Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_079392 COSM19516 rs1555515445 RCV000505743 CA396458614 |
254 | D>Y | Variant assessed as Somatic; impact. breast Blepharocheilodontic syndrome 1 BCDS1; abolishes protein abundance; loss of cell membrane localization [NCI-TCGA, Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
CA396458635 RCV000818905 rs1597892443 |
255 | Q>H | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001034594 rs759207947 |
256 | N>K | Cleft lip with or without cleft palate [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM19782 rs1555515446 CA396458657 RCV000639203 |
257 | D>G | Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; impact. breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
| VAR_079393 | 257 | D>V | BCDS1; slightly decreases protein abundance; loss of cell membrane localization [UniProt] | Yes | UniProt |
|
CA396458667 RCV000538702 rs1555515449 |
258 | N>Y | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1960783816 RCV001257969 |
260 | P>L | Blepharocheilodontic syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000709394 CA396458700 rs1567505715 |
260 | P>S | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002408458 RCV003162242 RCV000991090 COSM19759 RCV000013021 CA121997 rs121964873 |
261 | E>* | Breast lobular carcinoma Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome breast Gastric cancer [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA8129931 RCV000475944 RCV000480274 RCV001187411 COSM972786 rs121964873 |
261 | E>K | Hereditary diffuse gastric adenocarcinoma 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 |
|
rs1597892468 CA396458742 RCV000792662 |
262 | F>C | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396458733 RCV000700966 rs1567505730 |
262 | F>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000802275 CA396458754 rs1555515453 |
263 | T>A | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000531759 CA396458765 rs1555515456 |
263 | T>I | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001176744 rs1555515456 |
263 | T>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396458763 rs1555515456 RCV000584658 |
263 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001233599 RCV000571849 rs1555515453 CA396458753 |
263 | T>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876659503 RCV000457462 CA16615233 |
265 | E>* | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs876659503 CA396458788 RCV002526779 RCV000561464 |
265 | E>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs876659503 CA10580092 RCV000483098 RCV000217330 RCV000465251 |
265 | E>Q | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000230097 RCV000132223 rs587782728 CA294505 RCV000212356 |
265 | E>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA396458815 RCV000566247 rs1555515463 RCV000698427 |
266 | V>F | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001062108 RCV002418526 rs1960785108 |
267 | F>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000507564 CA8129934 RCV000580394 rs750979600 RCV001042942 |
269 | G>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA294235 rs587776399 RCV001192624 RCV000235151 RCV000130793 RCV000144457 VAR_013970 |
270 | S>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome may contribute to prostate cancer [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1960785793 RCV001183876 |
270 | S>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001215673 RCV002307612 CA396458930 RCV000774980 rs1567505776 |
272 | M>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10580093 rs876660861 RCV000220126 |
274 | G>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000165904 rs781513008 CA194486 RCV001704207 RCV000425156 RCV000639216 |
274 | G>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA396458972 RCV000546498 rs876660861 |
274 | G>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597892587 CA396458974 RCV001027313 |
275 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003163693 RCV001219823 rs1960786758 |
276 | L>P | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000459067 RCV000217001 rs750911401 CA8129935 |
276 | L>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs864622346 RCV001027373 RCV000204369 COSM704380 CA348612 |
277 | P>S | lung Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP |
|
rs864622346 RCV000822750 CA396459010 |
277 | P>T | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001055655 rs1555515597 |
278 | G>A | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555515597 RCV000639201 CA396459538 RCV001017583 |
278 | G>E | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001297083 RCV002411945 rs1960834189 |
279 | T>D | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001212969 rs761269950 CA396459545 RCV000567156 |
279 | T>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002298898 rs1444822940 RCV001191714 |
279 | T>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA349115 rs200932258 RCV002282039 RCV000572511 CA283300008 COSM19493 RCV001355763 RCV000478288 COSM384308 VAR_033026 RCV000204924 |
282 | M>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome lung breast a breast cancer sample; somatic mutation [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000160367 rs730881652 RCV000221994 RCV000559810 CA298937 RCV001193864 |
282 | M>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001312960 rs1555515601 RCV000566414 CA396459564 |
283 | E>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002516473 RCV000165133 rs786202364 CA192581 |
284 | V>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597893961 RCV001191657 |
285 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA165006 RCV000129743 RCV000534721 RCV000656819 rs587781634 |
285 | T>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA396459582 COSM19506 rs1597893973 RCV001860889 RCV001018028 |
286 | A>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000639266 RCV000777632 RCV000759018 CA396459602 rs1255556757 |
289 | A>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000196783 RCV000561485 COSM1379154 RCV001762421 rs780399325 CA336712 |
289 | A>V | Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
COSM274463 rs876660645 CA10580095 RCV000694385 RCV000482281 RCV000222993 |
291 | D>N | Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001315719 rs1555515607 RCV000574181 |
292 | D>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597894017 RCV001860900 RCV001018272 CA396459621 |
292 | D>N | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000218369 RCV001210451 CA10580096 rs876659186 |
293 | V>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002374917 RCV001053203 rs1960836448 |
293 | V>M | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000703976 RCV000581166 CA396459643 rs1555515611 |
295 | T>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000168224 rs786204179 CA334453 RCV001018391 |
295 | T>N | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001524548 RCV001232101 rs895188181 |
296 | Y>* | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001238348 rs1960837220 |
297 | N>D | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001300343 rs1017050648 RCV002375362 |
298 | A>D | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000148457 RCV000115865 CA211397 RCV000034709 RCV001798069 RCV000235152 RCV000414947 rs142822590 RCV001357769 RCV000119169 |
298 | A>T | Hereditary diffuse gastric adenocarcinoma Breast and/or ovarian cancer Neoplasm of stomach Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000703894 RCV001800858 RCV001018517 rs1017050648 COSM1379155 CA283300116 |
298 | A>V | Hereditary diffuse gastric adenocarcinoma large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs745807727 RCV000580494 RCV000479514 RCV000231332 CA8129951 |
299 | A>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1960837744 RCV001267041 RCV001257970 |
299 | A>T | Inborn genetic diseases Cleft lip/palate [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000164825 CA191878 RCV001582648 RCV000409432 rs749056300 |
301 | A>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs768467134 CA8129953 RCV001322285 |
302 | Y>C | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000214986 RCV000639236 CA10577539 RCV001018797 rs876660744 |
303 | T>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs876660744 CA10580097 RCV000691264 RCV000218776 |
303 | T>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1597894113 CA396459696 RCV000799909 |
304 | I>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1960838832 RCV001248231 |
305 | L>H | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396459709 rs1555515624 RCV001301057 RCV000571766 |
306 | S>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876660221 RCV000474222 CA16615373 |
307 | Q>H | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396459723 RCV000573591 rs1339256204 RCV001047978 |
308 | D>H | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001203564 COSM19776 CA396459722 rs1339256204 RCV003163538 |
308 | D>N | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV001775964 RCV000693080 rs1567506664 CA396459727 |
308 | D>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA283300233 rs529089668 RCV001048063 RCV000575534 |
309 | P>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1291900177 CA396459740 RCV000820771 |
310 | E>G | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001860937 CA396459735 RCV001019111 rs1597894150 |
310 | E>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001343817 rs767003567 CA396459744 RCV000570844 |
311 | L>F | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8129955 RCV001019166 RCV001345912 rs767003567 |
311 | L>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001875789 RCV001175814 rs993545618 CA283300252 |
313 | D>Y | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1131690820 RCV000492072 CA396459763 RCV002271515 RCV001195165 |
314 | K>* | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002375203 rs1131690820 RCV001221062 |
314 | K>E | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1960840529 RCV001323551 |
314 | K>I | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001345558 rs1960840611 |
315 | N>T | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1960840818 RCV001178529 |
316 | M>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs761182866 RCV001068908 |
316 | M>L | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000574966 rs761182866 RCV000559588 CA8129956 COSM77445 RCV000780100 RCV003126813 |
316 | M>V | ovary Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
CA396459785 RCV000579416 rs1555515643 |
317 | F>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs985713723 CA396459792 RCV000793661 |
317 | F>L | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555515643 RCV001019414 RCV000709395 CA396459786 |
317 | F>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396459796 rs1555515644 RCV002528123 RCV000569529 |
318 | T>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000576024 RCV001575662 rs1486730461 RCV000537891 CA396459799 |
319 | I>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1486730461 RCV000639278 RCV002369666 CA396459801 |
319 | I>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA396459810 RCV001019522 rs1262816479 |
320 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA396459814 rs1555515649 RCV000582701 RCV001054946 |
321 | R>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000506969 RCV000477423 CA16615374 rs1060501231 RCV002379431 |
321 | R>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000806882 CA10577541 RCV002372237 RCV000219110 rs876661274 |
322 | N>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001019619 RCV000985664 rs1487750656 CA396459831 |
323 | T>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060501232 RCV000470334 CA16614969 |
324 | G>A | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501232 RCV000467135 CA16614954 |
324 | G>E | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001019686 rs1597894239 |
325 | V>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597894244 CA396459837 RCV000799921 |
325 | V>F | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1960842618 RCV001191704 |
326 | I>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396459844 rs1567506764 RCV000709396 |
326 | I>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001312809 RCV000130021 CA165544 rs587781778 |
327 | S>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396459856 RCV000698135 rs1567506772 RCV001019791 |
327 | S>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000548107 RCV000776380 rs587781778 CA396459854 |
327 | S>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597894276 RCV000795318 CA396459860 RCV002386393 |
328 | V>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000478474 RCV000166059 rs754228872 CA194888 RCV000686762 |
328 | V>M | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA396459864 RCV000996291 RCV001070789 COSM255228 rs1597894279 RCV001019811 |
329 | V>F | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome central_nervous_system [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs755371143 RCV000480528 RCV001226560 CA8129957 RCV000580219 COSM19517 |
330 | T>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs755371143 CA396459872 RCV001019867 |
330 | T>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1597894293 CA396459876 RCV001203626 RCV001019896 |
331 | T>N | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000129978 RCV002512536 CA165466 rs587781759 |
332 | G>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001019945 RCV002298835 rs1597894308 CA396459883 |
332 | G>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001188810 CA283300353 rs761981219 |
334 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP ClinGen TOPMed gnomAD |
|
COSM194600 RCV002492442 CA166866 RCV000218355 RCV000123230 RCV000130670 RCV003162562 rs587780784 |
335 | R>* | Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome Familial cancer of breast breast Gastric cancer [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA8129959 RCV000687810 RCV001009645 rs587780784 |
335 | R>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA288013 RCV000855585 RCV000115832 RCV000229894 rs373364873 RCV000586292 |
335 | R>Q | Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA280990 VAR_001310 RCV000572541 rs267606712 RCV000013022 |
336 | E>D | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001341682 rs1960844685 |
336 | E>Q | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060501219 CA16615236 RCV001016959 RCV000458147 |
338 | F>C | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001016958 CA396459927 RCV002550825 rs1060501219 |
338 | F>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060501219 RCV002356878 RCV001205329 |
338 | F>Y | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555515709 CA396459932 RCV001821686 RCV000573380 RCV000639228 |
339 | P>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001230116 rs1597894647 |
339 | P>R | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA288016 VAR_013971 RCV000677871 RCV000212359 rs116093741 RCV000115833 RCV001798002 COSM19821 RCV000013032 RCV000858947 |
340 | T>A | Hereditary diffuse gastric adenocarcinoma Breast and/or ovarian cancer large_intestine Hereditary cancer-predisposing syndrome soft_tissue Gastric adenocarcinoma found in gastric and colorectal cancer samples; cells exhibited decreased aggregation increased invasiveness and non-uniform migration in vitro compared to cells transfected with wild-type sequence [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA165437 RCV000781210 RCV000200215 RCV001355225 COSM19773 RCV000129966 rs61747631 RCV000219875 |
340 | T>M | biliary_tract Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs116093741 RCV001009712 CA8129987 RCV000478241 RCV000529350 |
340 | T>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA281453 rs587776398 RCV000144456 |
341 | Y>* | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002447163 rs1960854403 RCV001232451 |
341 | Y>C | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000130563 RCV000639270 CA166658 rs587782073 |
342 | T>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA396459952 rs1555515720 RCV000544122 |
343 | L>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001195170 rs1555515721 RCV000523842 |
345 | V>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000805145 CA16620245 RCV000481386 rs1064793080 |
345 | V>A | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000574360 rs764532067 CA8129990 RCV001222891 |
345 | V>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs878854676 RCV001017093 RCV000233415 CA10583414 |
346 | Q>E | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA169945 RCV000132493 rs587782869 RCV001213118 |
347 | A>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000559014 CA396459978 rs1555515724 |
348 | A>S | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555515724 RCV001071203 |
348 | A>T | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1960855727 RCV001267481 |
350 | L>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396460000 RCV000639274 rs1555515726 |
351 | Q>* | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002268428 rs1555515726 RCV001066484 |
351 | Q>E | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396460004 RCV001017147 rs1597894735 |
351 | Q>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs762123073 CA8129991 RCV001238899 |
351 | Q>R | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001041710 RCV000562131 rs1555515728 RCV000759719 CA396460009 |
352 | G>D | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001206899 RCV000492182 CA10577540 RCV000216189 COSM1379164 rs876661091 |
353 | E>K | Hereditary diffuse gastric adenocarcinoma large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA396460015 rs1555515730 RCV000563121 RCV001316166 |
353 | E>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000210107 rs1555515731 RCV000196464 |
354 | G>* | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001342364 rs1960856637 |
354 | G>A | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555515731 RCV003160542 RCV001065791 |
355 | L>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1260033180 RCV001806014 RCV001069198 CA396460042 COSM1379168 |
357 | T>K | Hereditary diffuse gastric adenocarcinoma large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
CA396460050 RCV001063832 rs1191901557 RCV000564822 |
358 | T>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001262765 rs1191901557 |
358 | T>R | Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001322400 rs1960857478 |
359 | A>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000797038 CA8129994 rs549579183 |
360 | T>R | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1555515739 RCV000736288 RCV000563263 |
362 | V>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001214440 CA396460085 rs1555515740 RCV000581894 |
363 | I>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396460086 rs1555515740 RCV001017169 RCV001873286 |
363 | I>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000458635 CA10580102 RCV000215211 rs876658376 |
364 | T>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16615381 RCV000458391 rs876658376 |
364 | T>R | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000461743 rs778868539 CA8129995 RCV000215755 |
364 | T>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA396460107 RCV000579958 COSM294225 rs1555515742 RCV001860045 |
365 | V>I | Hereditary diffuse gastric adenocarcinoma large_intestine Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV003169631 RCV001341934 rs1555515742 |
365 | V>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060501238 RCV000583142 RCV000456768 CA16614974 |
366 | T>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060501238 RCV001211348 CA396460117 |
366 | T>P | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10580103 rs876660260 RCV000217212 RCV000639237 RCV001800573 |
366 | T>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555515749 CA396460137 RCV000569346 RCV001363358 |
368 | T>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000131921 CA168893 RCV000227259 rs367868307 RCV000759720 |
368 | T>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA396460139 rs1555515749 RCV000775853 |
368 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000776452 RCV000537671 CA8129996 rs367868307 RCV002289757 |
368 | T>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001017336 RCV000702112 rs1567507138 |
369 | N>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002431980 rs1960858920 RCV001348341 |
369 | N>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1960859184 RCV001345645 |
370 | D>N | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000564948 rs1555515754 CA396460193 |
371 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001017359 RCV001873291 CA396460190 rs1555515754 |
371 | N>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001190041 RCV001193863 rs1555515760 |
372 | P>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003105960 rs1555515760 CA396460216 RCV001214906 RCV001731789 RCV000567625 |
372 | P>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000566770 rs1555515758 RCV001865712 CA396460208 |
372 | P>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003153426 RCV000481162 rs587782359 RCV000780090 RCV000231218 CA167953 RCV000131314 |
373 | P>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1597894887 RCV000803885 CA396460256 |
375 | F>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001298934 rs1960860209 |
375 | F>Y | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396460278 RCV000563227 RCV001302597 rs1169866178 |
376 | N>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001195171 rs1131690812 RCV000492512 |
378 | T>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000129325 rs587781432 RCV000759721 RCV000526444 CA164201 RCV001804851 |
378 | T>P | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001182353 rs1960860788 |
379 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396460333 RCV001009942 rs587782856 |
379 | T>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587782856 RCV000132465 CA169895 RCV000480330 RCV000227986 COSM1128899 |
379 | T>M | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA298983 RCV001420706 RCV000168152 TCGA novel RCV000589641 RCV000160388 rs143727462 |
381 | K>N | Variant assessed as Somatic; impact. Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8130014 rs780867132 RCV000564424 RCV001858192 |
381 | K>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002483555 RCV000581370 rs1555515863 RCV002456278 RCV001390081 |
382 | G>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396461011 rs1597895701 RCV000805057 |
382 | G>S | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567507684 CA396461021 RCV001036560 RCV000776872 |
382 | G>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000763385 RCV000132351 CA169687 RCV000991081 COSM3818350 rs587782798 |
383 | Q>* | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Familial cancer of breast breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA193172 rs786202510 RCV000165354 RCV000484108 RCV001192622 RCV000233683 |
383 | Q>H | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000129700 RCV000639212 CA164944 rs587781612 RCV000217738 |
385 | P>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs111266450 RCV000580859 RCV000688765 CA283307193 |
387 | N>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA8130017 rs779426744 RCV001856095 RCV000774767 |
387 | N>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA396461118 RCV001010075 rs774875972 |
388 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002560867 rs1960890872 RCV001185198 |
388 | E>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000656820 rs372838203 RCV000120514 RCV000115834 RCV000196601 CA157986 |
388 | E>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs372838203 RCV001303521 RCV001760359 |
388 | E>Q | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000561280 RCV000804593 rs772580163 |
388 | E>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001235363 rs1555515869 |
389 | A>D | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597895749 CA396461122 RCV001017495 |
389 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002330865 RCV000551677 rs1555515869 CA396461130 |
389 | A>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000696664 rs1567507724 |
390 | N>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001010111 rs1555515870 CA396461134 RCV000525408 |
390 | N>D | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA283307200 RCV000540402 RCV002289758 rs964044070 RCV002330866 |
390 | N>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396461159 rs1555515873 RCV000555134 |
391 | V>A | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001850262 RCV000160389 rs556110297 CA298986 |
391 | V>F | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1555515873 RCV001867886 CA396461163 RCV000565269 |
391 | V>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000765303 RCV000757068 RCV000163940 RCV000409091 RCV001253170 CA189596 rs556110297 |
391 | V>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast Variant assessed as Somatic; 9.239e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001189046 rs141864044 |
392 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000697960 RCV001357435 rs1555515872 RCV000564644 |
392 | V>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000991101 CA288019 RCV000167905 RCV000566176 rs141864044 |
392 | V>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000212361 rs34466743 RCV000459515 VAR_048501 CA294202 RCV000130500 RCV000679557 |
393 | I>N | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs1555515877 RCV000561469 CA396461183 RCV001853816 |
393 | I>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396461197 RCV001343209 RCV000773939 rs1567507749 |
394 | T>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396461202 rs1332444039 RCV001010183 RCV001860630 |
394 | T>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1332444039 CA396461199 RCV000761002 |
394 | T>N | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060501249 RCV000460481 |
395 | T>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000221628 rs201135424 RCV000485174 RCV000234350 CA8130019 |
395 | T>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000129957 RCV001302633 CA165418 rs587781751 |
395 | T>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001232027 rs1597895834 |
396 | L>M | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001524511 RCV001057801 rs1960892947 |
397 | K>* | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000772375 CA396461284 rs786201680 |
400 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1960893142 RCV002570630 RCV001257971 |
400 | D>N | Hereditary diffuse gastric adenocarcinoma Blepharocheilodontic syndrome 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000486692 RCV000639286 rs150795245 CA8130021 RCV000566539 |
401 | A>D | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA283307221 RCV000701443 RCV001187081 rs553525438 |
401 | A>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV000478784 RCV000528041 CA8130020 RCV000569272 rs150795245 RCV000781218 |
401 | A>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1960893623 RCV002350527 RCV001297336 |
403 | A>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001295928 rs1960893696 |
403 | A>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396461315 rs1334047600 RCV000772555 RCV001869084 |
404 | P>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA396461316 RCV001370635 rs1334047600 RCV001185204 |
404 | P>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002354987 RCV001356183 rs1597895871 RCV001038564 RCV000796011 RCV001525049 |
405 | N>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396461326 RCV000639251 rs1336921050 RCV000564371 |
405 | N>D | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002354996 rs587778175 RCV001040244 |
405 | N>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555515891 CA396461337 RCV001039528 RCV000583178 |
405 | N>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587778175 CA157983 COSM308522 RCV000120513 RCV001762252 RCV000198487 RCV000656821 RCV000129759 |
405 | N>S | upper_aerodigestive_tract Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000794415 CA396461352 rs753770270 |
406 | T>N | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001309903 rs753770270 |
406 | T>S | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886037822 RCV000240878 |
407 | P>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000467830 rs1060501236 CA16615389 |
407 | P>L | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs138135866 RCV000562112 RCV000204897 CA349086 |
408 | A>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1960894869 RCV001213582 |
408 | A>P | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA288022 RCV000204585 RCV000115836 rs138135866 RCV000858656 COSM143802 RCV000212362 |
408 | A>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome stomach breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1960895237 RCV001053253 |
409 | W>* | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA157989 RCV000588122 RCV000205108 RCV002498556 RCV000120515 RCV000160390 rs587778176 RCV001358315 |
409 | W>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10583415 RCV000228207 rs187906987 |
410 | E>Q | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes dbSNP |
|
RCV001238443 rs1960895805 |
412 | V>A | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA167176 RCV000168411 rs587782189 RCV002498643 RCV000130820 |
412 | V>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000200507 RCV000565479 CA339350 rs863224723 |
414 | T>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001246692 RCV000564236 CA396461524 rs755571454 |
414 | T>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs755571454 RCV000590115 CA190083 RCV000164120 RCV001260252 RCV000466208 |
414 | T>N | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000561646 RCV001236648 rs755571454 CA396461522 |
414 | T>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1131690811 RCV000492243 RCV001260568 |
415 | I>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1567507825 RCV000773438 |
415 | I>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396461551 rs1597896016 RCV001010528 |
415 | I>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001251339 rs587782372 CA168013 RCV000759725 RCV000462419 RCV000131355 |
415 | I>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16614967 RCV000562614 rs1060501239 RCV000464498 RCV001764383 |
415 | I>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002388423 rs772622537 RCV000793776 CA8130025 |
416 | L>F | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001235934 rs1597896022 RCV002268401 CA396461568 RCV001010558 |
417 | N>H | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM3735510 RCV000579872 CA396461581 rs1555515902 |
417 | N>K | Hereditary cancer-predisposing syndrome skin [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000766705 RCV000164676 rs773441320 RCV000196904 RCV000484306 RCV000765304 CA191528 |
417 | N>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000687275 CA396461594 rs1057520936 |
418 | D>E | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000819015 CA396461596 rs1597896057 |
419 | D>N | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000225994 rs878854677 CA10583416 RCV002411044 |
420 | G>D | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001205796 rs1960897887 |
420 | G>S | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878854677 RCV000804205 CA396461619 |
420 | G>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs775730054 RCV000553251 RCV000573258 |
421 | G>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs747256664 CA8130027 RCV000817343 RCV000561551 |
421 | G>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000164628 RCV000794163 CA191431 rs786202027 |
423 | F>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555515904 RCV000573495 CA396461688 |
424 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000115837 CA288025 RCV001192623 RCV000235154 rs570930882 RCV001762230 RCV000989624 |
425 | V>I | Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000552405 RCV000583760 rs570930882 CA8130029 |
425 | V>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000216022 CA10577542 rs876658901 RCV000217681 RCV000698860 |
426 | T>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002375230 rs876658901 RCV001229946 |
426 | T>N | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000481994 rs1064793864 CA16620247 RCV000639269 RCV000563519 |
427 | T>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001010756 rs1597896121 CA396461770 |
429 | P>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000216574 rs876658766 RCV001853523 CA10580109 |
429 | P>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
rs1597896121 RCV001035865 |
429 | P>S | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs730881665 CA396461799 RCV000530703 |
430 | V>A | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA298989 RCV000212364 RCV000200679 rs730881665 RCV000160391 RCV001193866 |
430 | V>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001249862 rs1960899829 |
430 | V>L | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001210698 CA8130030 rs767350265 |
431 | N>K | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV003153452 rs187862045 RCV000460665 RCV000677870 RCV001193905 RCV000166605 CA196286 |
432 | N>K | Hereditary diffuse gastric adenocarcinoma Neoplasm of stomach Hereditary cancer-predisposing syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000706622 rs1567507933 RCV001188193 |
432 | N>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000130470 RCV000212365 rs376097289 CA294197 RCV001358324 RCV000858949 RCV000196288 |
433 | D>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000235155 RCV000123233 rs199886166 COSM239247 RCV000115838 RCV000588526 CA288028 |
433 | D>N | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome prostate [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002384113 RCV000546847 CA396461862 rs1555515914 |
434 | G>D | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000197039 RCV000130036 RCV002281954 CA165582 rs587781783 |
434 | G>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs864622644 RCV000519205 RCV000566585 CA348421 RCV000204180 |
435 | I>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000813827 CA396461893 rs557551011 |
436 | L>F | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002384114 CA396461884 RCV000557005 rs1555515917 |
436 | L>M | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000164334 rs786201841 RCV000531017 CA190680 |
437 | K>Q | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555515920 RCV000657359 RCV001195173 |
438 | T>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000816973 rs876658218 CA396461922 |
438 | T>I | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002518242 RCV000215360 CA10580110 rs876658218 |
438 | T>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001206826 rs1597896180 |
439 | A>E | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597896180 CA396461941 RCV001010933 |
439 | A>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000164296 CA190565 RCV000218750 RCV000168147 rs758764445 |
439 | A>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs778212100 RCV000639244 CA8130032 RCV000218352 RCV003155131 |
440 | K>E | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA396461956 RCV000505716 rs1555515925 |
440 | K>N | Variant assessed as Somatic; impact. Blepharocheilodontic syndrome 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001762432 RCV000206579 RCV000218783 rs864622165 CA350602 |
440 | K>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002379940 rs1960957210 RCV001245786 |
441 | G>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000583583 CA396462658 rs1555516080 RCV001860080 |
442 | L>F | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs752074266 RCV000228858 RCV000213773 CA8130071 RCV000985650 |
442 | L>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000566387 CA396462666 rs1555516083 RCV001858277 |
443 | D>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1392114487 RCV000776725 CA396462680 RCV001194009 RCV000560722 |
444 | F>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000123235 RCV000212366 CA288031 RCV000115839 rs374398608 |
445 | E>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000205448 rs864622184 RCV001011103 COSM704379 CA349614 |
445 | E>Q | lung Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA10577543 RCV002267972 rs876661078 RCV000534484 RCV001010832 RCV000217435 |
446 | A>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001212285 rs1960958031 RCV001191196 |
446 | A>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002383978 rs1555516089 RCV000505868 RCV001260570 |
447 | K>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001054454 rs1960958360 |
448 | Q>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396462715 rs1421067964 RCV000639223 RCV001010966 |
448 | Q>E | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002386042 rs750741214 RCV000639277 CA396462738 |
450 | Y>D | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000690498 rs750741214 CA396462739 |
450 | Y>H | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000165468 CA193480 RCV000167939 rs750741214 RCV000486827 RCV000780092 |
450 | Y>N | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs377416092 RCV001244592 |
451 | I>F | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000475311 rs377416092 RCV001818330 RCV000132204 CA294502 RCV000586976 |
451 | I>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001189348 rs377416092 RCV001800961 |
451 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs886039612 RCV001195174 RCV000256004 RCV002494804 |
452 | L>missing | Hereditary diffuse gastric adenocarcinoma Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001011143 rs1597897808 CA396462760 |
452 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597897817 RCV000818238 CA396462766 |
453 | H>N | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396462775 RCV002551738 RCV001011163 rs114861467 |
453 | H>Q | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001213976 rs1960959163 |
453 | H>R | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000212369 RCV000226677 rs587780112 CA288034 RCV000115840 |
454 | V>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001117797 CA396462780 rs587780112 RCV000581224 |
454 | V>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_079394 | 454 | V>del | BCDS1; decreases protein abundance; loss of cell membrane localization [UniProt] | Yes | UniProt |
|
RCV001040066 rs876659762 RCV000222712 CA10580111 |
455 | A>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876659762 RCV000702799 CA396462787 RCV000571045 |
455 | A>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001338709 rs974965262 RCV001117798 |
456 | V>L | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs974965262 RCV000549556 COSM19512 CA283308193 RCV001011194 |
456 | V>M | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
rs587778170 RCV000765305 CA157948 RCV000657011 RCV000229532 RCV000219561 RCV000120497 |
457 | T>M | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002379800 RCV001210747 rs1960960044 |
458 | N>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001775890 RCV000572988 RCV001858276 rs1555516109 CA396462831 |
459 | V>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000774023 RCV001052637 CA396462826 rs1567508837 RCV002293479 |
459 | V>M | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1960960367 RCV001046635 |
460 | V>A | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1960960367 RCV001221095 |
460 | V>E | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000773621 RCV001215396 rs1567508847 |
461 | P>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876659268 RCV001308675 |
461 | P>H | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876659268 RCV000216598 RCV001305841 RCV001762488 CA10580112 |
461 | P>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001860661 rs1355592880 CA396462843 RCV001011284 |
461 | P>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000132005 rs587782622 RCV001857466 CA169057 |
462 | F>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1960961009 RCV001220207 |
463 | E>K | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555516111 RCV000574458 RCV001195175 |
464 | V>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000810057 CA396462876 rs1597897887 |
464 | V>I | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000774142 rs1597897893 |
466 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000812284 rs1597897917 |
466 | L>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1597897918 CA396462909 RCV001011364 |
467 | T>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA191607 RCV000164713 RCV002515146 rs745617489 |
468 | T>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000219425 RCV000800375 rs876659141 CA10580113 |
468 | T>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000492349 rs1131690821 RCV001260571 |
470 | T>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs370864592 RCV001705821 RCV000123236 RCV000590637 CA151518 VAR_001315 RCV003149805 RCV002505036 RCV000200980 RCV000115841 |
470 | T>I | Hereditary diffuse gastric adenocarcinoma Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA396462949 RCV001011454 rs1597897944 |
472 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001068634 rs1960962662 |
473 | V>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000198903 RCV000212370 RCV000115842 RCV000780096 VAR_048502 rs36087757 CA288037 RCV001762231 |
473 | V>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000570136 RCV001193297 CA8130077 rs773858736 RCV001360295 |
474 | T>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000547309 CA396462968 rs1555516124 RCV000564220 |
474 | T>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501217 RCV001189705 RCV001798831 RCV000475500 CA16614978 |
475 | V>A | Hereditary diffuse gastric adenocarcinoma Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000470134 RCV001527015 CA166787 COSM1563542 RCV002460927 rs587782113 RCV000130629 |
475 | V>M | Hereditary diffuse gastric adenocarcinoma 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 |
|
RCV001220255 rs1960963485 |
477 | V>E | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001558141 RCV001218523 RCV002393519 rs1960963393 |
477 | V>M | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA167956 VAR_023357 RCV000702004 rs35520415 RCV000131315 |
478 | L>P | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
COSM19749 RCV000567936 rs1555516131 RCV000540606 CA396463013 |
479 | D>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome stomach [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs587782796 RCV001857468 RCV000132346 CA169675 |
479 | D>H | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA396463011 RCV000579753 RCV000525890 RCV000582796 rs587782796 |
479 | D>N | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs587782796 RCV001244379 |
479 | D>Y | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA193797 rs786202675 RCV000985651 RCV000801471 RCV000165603 |
480 | V>M | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555516137 RCV001260572 RCV000584079 |
481 | N>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000582812 CA396463029 rs1555516133 |
481 | N>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA336130 RCV000196042 RCV000216175 rs863224724 RCV001011623 |
482 | E>D | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA396463039 RCV000561678 rs1555516138 RCV002527981 |
482 | E>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001344556 rs1960964468 |
483 | A>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001067596 rs1960964657 |
484 | P>L | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000144592 rs587783049 CA281460 |
485 | I>S | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001319019 rs587783049 CA283308251 RCV000575121 RCV000780088 |
485 | I>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000569112 rs1555516140 CA396463077 |
485 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000797160 CA396463086 RCV002388448 rs1331977824 |
486 | F>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001179678 rs1960965197 |
486 | F>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000687067 RCV002388201 rs1567508939 RCV001556232 |
487 | V>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
| VAR_008713 | 487 | V>A | DGLBC [UniProt] | Yes | UniProt |
|
rs1555516144 CA396463109 RCV000705192 |
488 | P>A | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396463108 RCV000524883 rs1555516144 |
488 | P>S | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396463107 rs1555516144 RCV001011699 |
488 | P>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs766713582 RCV001526894 RCV000815365 CA396463121 |
489 | P>H | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8130080 RCV002392700 rs766713582 RCV000230192 |
489 | P>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs786202508 RCV000165352 RCV000707373 CA193167 |
489 | P>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001235862 rs1960966026 |
490 | E>G | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000565014 rs1555516147 RCV000539873 CA396463123 COSM159880 |
490 | E>K | Hereditary diffuse gastric adenocarcinoma NS Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs876659208 RCV000657196 RCV000554611 RCV000213871 |
492 | R>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587781286 RCV000772963 CA396463149 |
492 | R>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs587781286 RCV000128970 RCV000167912 RCV000212371 CA293926 |
492 | R>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001824654 CA192748 RCV001209811 rs786202407 RCV000165202 |
493 | V>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001046031 rs786202407 RCV002255611 CA283308271 |
493 | V>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
COSM255229 RCV000160392 RCV001800470 RCV000206225 rs730881666 RCV000221777 CA298992 |
493 | V>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome central_nervous_system [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV001195163 COSM159883 rs778871891 RCV000574013 CA396463169 |
494 | E>* | Hereditary diffuse gastric adenocarcinoma NS Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs1555516153 RCV000639235 CA396463171 |
494 | E>G | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA193050 rs786202482 RCV000639252 RCV000165313 |
495 | V>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs876658261 RCV000639261 RCV000222658 RCV000985652 |
497 | E>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001225725 RCV000678466 rs1567508990 RCV001525869 CA396463192 COSM1247778 RCV001034595 |
497 | E>K | Breast carcinoma Cleft lip with or without cleft palate Hereditary diffuse gastric adenocarcinoma oesophagus Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
CA10577544 RCV001175108 RCV000539949 RCV000216744 RCV000570338 rs876661065 |
498 | D>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555516163 RCV001040672 RCV000569748 CA396463246 |
499 | F>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1960968094 RCV001206763 |
501 | V>G | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8130084 RCV001203721 rs368690400 |
501 | V>L | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000478959 RCV000585007 CA168156 RCV000167909 RCV000131439 rs368690400 |
501 | V>M | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000210159 RCV001711987 rs869312765 |
502 | G>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396463293 RCV001011942 RCV000803686 rs1597898169 |
502 | G>D | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10580118 RCV001043764 RCV000214119 rs876659548 |
503 | Q>H | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000570243 rs1555516170 RCV001858163 CA396463320 |
504 | E>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000804783 RCV001193301 rs1597898186 CA396463343 RCV001011874 |
505 | I>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003153503 RCV000985653 rs114885938 RCV000554984 CA8130087 RCV000217270 |
506 | T>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Ovarian cancer [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000685693 rs1567509020 |
508 | Y>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555516173 CA396463396 RCV000533273 |
508 | Y>N | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001036271 rs771551231 CA16620248 RCV001012015 RCV000482892 |
509 | T>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs771551231 RCV000679562 RCV000571668 CA8130090 RCV000232572 |
509 | T>N | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000568081 rs761356661 CA396463431 |
509 | T>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001229889 rs761356661 |
509 | T>S | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000218463 rs771551231 CA10580119 |
509 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA396463457 RCV000802287 rs1344960746 |
510 | A>D | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1344960746 CA396463465 RCV001295591 |
510 | A>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000810270 RCV000492683 CA396463469 rs1131690810 COSM435602 |
511 | Q>* | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV000215502 RCV000759009 CA10580120 rs876658342 RCV000475195 |
511 | Q>H | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396463472 RCV002529230 rs1555516178 RCV000584335 |
511 | Q>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396463503 RCV001862783 rs1597898279 RCV001012085 |
512 | E>D | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10580121 rs876659244 RCV000220568 |
512 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001858091 rs1555516185 RCV000566094 CA396463515 |
513 | P>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001319558 rs1219371636 CA396463553 |
515 | T>A | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000639273 RCV000772954 CA396463562 rs1555516188 |
515 | T>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001181691 rs1555516188 |
515 | T>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1219371636 RCV000699314 CA396463555 |
515 | T>S | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA396463577 RCV001012073 rs1597898295 |
516 | F>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000543755 rs786203656 RCV000167059 CA197392 |
517 | M>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786203656 RCV001215203 RCV000216206 RCV002284381 CA10580124 |
517 | M>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786203656 CA10580123 RCV000213736 |
517 | M>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876658146 CA10580122 RCV000221624 RCV000794319 |
517 | M>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1597898324 RCV000794659 CA396463613 |
518 | E>K | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs773763544 CA8130091 RCV001226574 |
519 | Q>K | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000558398 CA396463664 rs1555516192 |
520 | K>E | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000772809 CA396463669 rs1567509102 |
520 | K>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs761162838 RCV001860696 RCV001012136 CA8130092 |
521 | I>M | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000772110 RCV001869080 rs1567509105 CA396463681 |
521 | I>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000197897 CA337526 RCV001174680 RCV000448662 COSM35879 rs863224725 RCV000590454 |
522 | T>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs863224725 CA396463697 RCV002528122 RCV001800785 RCV000566861 |
522 | T>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000702111 RCV000561178 rs876659716 COSM159882 CA396464802 |
523 | Y>* | Hereditary diffuse gastric adenocarcinoma NS Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
CA090925 RCV000587509 RCV000129330 RCV001797632 RCV000206211 rs553907248 |
523 | Y>C | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1473643691 RCV000582485 CA396464788 |
523 | Y>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV003148664 RCV000163581 CA188678 rs373605261 RCV000205600 |
524 | R>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
CA8130108 RCV000468047 RCV000216734 rs761180883 |
524 | R>Q | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10580126 rs373605261 RCV000475606 RCV000481206 RCV000215522 |
524 | R>W | Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001195164 RCV000255230 rs886039590 CA10588624 |
526 | W>* | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396464855 RCV000684977 rs886039590 |
526 | W>C | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396464850 rs1596960298 RCV001012246 |
526 | W>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000562109 rs776890776 RCV000203686 CA347984 RCV001355093 |
529 | T>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001048555 rs1961073180 |
529 | T>I | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs776890776 CA194038 RCV002264913 RCV000165708 RCV000691223 |
529 | T>P | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001260575 RCV000492449 RCV000478712 rs1555516532 |
530 | A>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555516534 RCV000639222 CA396464906 |
530 | A>P | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001190100 TCGA novel RCV001363199 rs1961073536 |
530 | A>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar NCI-TCGA dbSNP |
|
rs1555516535 RCV000520434 RCV001260576 |
531 | N>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596960362 RCV001340528 |
531 | N>K | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396464933 RCV001184394 rs1596960354 RCV000813115 |
531 | N>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1247779 CA396464955 rs1596960368 RCV001012323 COSM19520 |
532 | W>* | oesophagus Hereditary cancer-predisposing syndrome breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001298298 rs1961074036 |
533 | L>P | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001210591 RCV000571099 CA16620252 RCV000487422 rs144519845 |
535 | I>F | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
rs144519845 RCV001230769 RCV000569091 CA396465015 |
535 | I>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
CA8130112 rs144519845 RCV002402739 RCV001235958 |
535 | I>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP |
|
RCV001525052 RCV000797442 RCV001283956 rs1596960393 |
536 | N>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs730881667 CA298995 RCV000212373 RCV000160393 RCV001356277 RCV000234355 |
537 | P>L | Carcinoma of colon Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001215682 rs730881667 |
537 | P>R | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001045772 rs1961074729 |
537 | P>S | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555516545 RCV000504654 |
538 | D>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002399749 rs863224726 RCV000198874 CA338255 |
538 | D>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000679563 RCV001325307 CA8130114 RCV000573781 rs756154596 |
538 | D>Y | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002390540 rs864622070 RCV000206314 CA350357 |
539 | T>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1961075409 RCV001067535 |
539 | T>S | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000160394 CA298998 RCV001850263 rs730881668 |
541 | A>V | Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001183616 RCV001036351 rs1961075798 |
542 | I>M | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396465137 rs148400889 RCV000562348 |
543 | S>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV001012484 rs148400889 CA283310383 RCV001061569 |
543 | S>F | Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000581941 rs786202107 RCV001358244 RCV000585989 CA396465142 RCV001049986 |
544 | T>A | Carcinoma of colon Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786202107 RCV000164755 CA191699 |
544 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA336064 RCV000221967 RCV000195967 rs863224727 |
545 | R>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000570878 rs587780115 RCV000792294 CA8130116 |
545 | R>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000587960 RCV000570962 RCV001253164 RCV000809596 RCV001030611 CA288042 rs587780115 |
545 | R>Q | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001175686 RCV001358029 RCV000515474 RCV000639204 CA396465154 rs863224727 |
545 | R>W | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000569877 rs1555516556 RCV001712582 |
546 | A>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000217485 RCV002518287 rs876658877 CA10580127 |
546 | A>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596960481 CA396465167 RCV001012396 |
546 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001180710 rs1961076622 RCV001204179 |
547 | E>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001318913 rs747801796 |
548 | L>R | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1181682630 RCV000534032 CA396465185 |
548 | L>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000508188 CA10580128 RCV000219712 rs876659525 RCV000527221 |
549 | D>N | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396465211 rs1596960520 RCV001219653 RCV001012563 |
550 | R>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396465213 RCV001221320 rs771649648 RCV001012566 RCV002462257 |
550 | R>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8130119 rs771649648 RCV001766608 RCV000774769 RCV000817071 |
550 | R>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000985656 rs1596960532 RCV003169525 CA396465225 RCV002549651 |
551 | E>Q | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1961077541 RCV001309789 |
553 | F>C | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs566103420 RCV000581637 CA396465255 |
554 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs587782768 CA169580 RCV000132296 RCV000688207 |
555 | H>D | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587782768 RCV000776668 CA396465269 |
555 | H>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10577545 RCV000220412 RCV001364762 RCV000214579 rs876660399 |
556 | V>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000566284 CA396465284 RCV001048275 rs876660399 |
556 | V>M | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA396465304 rs1173188736 RCV001773651 RCV001325857 RCV002395720 |
557 | K>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001234622 RCV002402736 rs1961078305 RCV003145449 |
558 | N>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396465332 rs1555516566 RCV001178547 RCV000538831 |
559 | S>C | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001012612 rs1596960625 COSM19513 CA396465334 |
559 | S>N | Hereditary cancer-predisposing syndrome breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001347297 rs746481984 |
560 | T>K | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000215364 RCV000485776 RCV000167921 CA334001 rs746481984 RCV001193300 |
560 | T>M | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000678243 RCV003165581 COSM159879 RCV000219965 RCV000492731 CA10577547 rs746481984 |
560 | T>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome breast Gastric cancer [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000566595 RCV001712581 rs1555516567 |
561 | Y>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA283310460 RCV001043782 RCV002400251 rs918685758 |
561 | Y>C | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001283957 RCV000233909 rs587782061 RCV000130539 CA166617 |
562 | T>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA168064 RCV000131384 rs587782381 RCV000791845 |
562 | T>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000549056 CA396465371 RCV001012720 rs587782061 RCV001561039 |
562 | T>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1961079421 RCV001039492 |
563 | A>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001036440 rs1596960694 |
563 | A>G | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000212374 CA294205 RCV000130507 rs587782044 RCV000473796 |
563 | A>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA396465379 RCV000568401 rs587782044 |
563 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001012715 rs1596960694 CA396465383 |
563 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001052264 rs786201342 CA396465386 |
564 | L>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002400309 rs1961080115 RCV001053570 |
565 | I>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs775941240 RCV000220447 CA8130122 |
566 | I>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs763292288 RCV000218074 RCV000164574 RCV000206172 CA191303 |
566 | I>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000697371 CA396465408 rs775941240 |
566 | I>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000262178 rs886041160 RCV000639258 CA10603274 |
567 | A>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16615246 RCV000473023 rs1060501242 RCV001012782 RCV001800674 |
568 | T>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA193926 RCV001775645 RCV000165660 RCV001042404 rs786202712 |
568 | T>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000492379 RCV001326496 rs786202712 CA396465435 |
568 | T>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000479771 rs876660905 RCV001059355 CA10580129 RCV000216294 |
569 | D>E | Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001189119 RCV001384476 rs1961081411 |
570 | N>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396465454 RCV001012832 RCV001860725 rs1567510854 |
570 | N>D | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000776909 CA396465453 RCV002536710 rs1567510854 |
570 | N>H | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003162865 CA396465458 RCV001191634 RCV000639281 rs1555516592 RCV001565323 |
570 | N>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000165027 CA192333 rs786202290 RCV001171459 COSM19766 |
571 | G>S | large_intestine Hereditary cancer-predisposing syndrome Familial cancer of breast breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000542307 CA396466186 rs1555516819 |
573 | P>L | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs115934514 CA8130144 RCV000819418 |
574 | V>F | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs1567512117 CA396466217 RCV000709397 |
574 | V>G | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs115934514 RCV000220657 CA10580131 RCV002515685 |
574 | V>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000568763 CA396466256 rs759536558 |
576 | T>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002281073 RCV000231721 CA8130145 RCV000566211 rs759536558 |
576 | T>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA396466281 rs1555516820 RCV000565857 |
577 | G>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596963360 RCV001049707 RCV002409426 |
578 | T>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001012940 rs1567512135 RCV000706915 CA396466327 |
578 | T>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002549381 RCV001012897 rs1567512135 CA396466324 |
578 | T>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001012894 rs1596963360 RCV000802197 CA396466298 |
578 | T>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000657274 rs1555516821 RCV001260577 |
579 | G>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596963374 CA396466345 RCV000819554 RCV002397714 |
579 | G>E | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001544839 RCV000168151 rs786204155 CA334359 RCV001012928 |
580 | T>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001347738 rs1961157345 |
580 | T>K | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000771412 rs1567512154 CA396466375 RCV000688984 RCV002477541 |
581 | L>F | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396466389 RCV000639254 rs1801025 |
582 | L>M | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA396466397 RCV001012988 RCV001371279 rs1596963398 |
582 | L>Q | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000657176 RCV000492101 RCV001712454 rs1131690817 |
583 | L>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001204499 rs1596963414 |
585 | L>P | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596963414 RCV000800494 CA396466461 |
585 | L>Q | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs864622599 CA349411 RCV000205226 |
586 | S>F | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs864622599 RCV001226418 |
586 | S>Y | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1458799670 CA396466497 RCV001013068 |
587 | D>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001069751 rs1961158988 |
588 | V>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001034596 rs1367108095 |
589 | N>I | Cleft lip with or without cleft palate [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001283958 RCV001806097 CA396466524 RCV001871652 rs1367108095 |
589 | N>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000774770 CA350145 RCV000206079 rs864622319 |
590 | D>E | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001344197 RCV002404807 CA8130149 rs751291956 |
591 | N>D | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001013061 RCV002282276 rs1555516835 CA396466580 RCV000639200 |
591 | N>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002397452 rs786202059 CA396466589 RCV000701360 |
592 | A>D | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000164679 CA191535 rs786202059 |
592 | A>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs35187787 RCV000480077 RCV000163911 RCV000552810 CA189491 RCV000765306 |
592 | A>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs35187787 RCV000148453 RCV000119222 RCV002496520 CA157954 RCV001798068 VAR_001318 RCV000115846 RCV000034704 RCV000120499 RCV001762102 COSM19758 |
592 | A>T | thyroid Hereditary diffuse gastric adenocarcinoma Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Familial cancer of breast stomach breast Breast neoplasm a thyroid cancer sample; may play a role in colorectal carcinogenesis [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000776801 rs1567512288 RCV001869113 CA396466601 |
593 | P>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000492623 RCV000222914 RCV001040350 RCV001260578 rs876661118 |
594 | I>missing | Hereditary cancer-predisposing syndrome Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000639247 rs1206609823 RCV000562579 CA396466605 |
594 | I>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001322228 rs1961160711 |
594 | I>T | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000695512 rs1555516843 CA396466639 RCV000581283 |
595 | P>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000570513 CA8130151 RCV000541565 RCV002268148 rs755622441 |
595 | P>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA396466644 rs1555516844 RCV000687357 |
596 | E>K | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555516844 RCV000556249 CA396466645 |
596 | E>Q | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001181731 rs1961161092 RCV001227401 |
597 | P>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000575345 rs201625049 RCV000034705 CA215849 RCV000707611 |
597 | P>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA195370 rs201625049 RCV000166250 RCV000506747 RCV001237470 |
597 | P>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
COSM1379185 RCV000484230 RCV000213248 CA281000 RCV000013028 rs121964877 |
598 | R>* | Hereditary diffuse gastric adenocarcinoma large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs121964877 RCV000470902 CA16615250 |
598 | R>G | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396466676 rs780759537 RCV001013192 RCV001035081 |
598 | R>P | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_001319 rs780759537 CA334368 RCV000216786 COSM20835 RCV001565239 RCV000168156 |
598 | R>Q | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome stomach a gastric cancer sample [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ExAC dbSNP gnomAD |
|
COSM1379187 RCV000466849 rs377302798 CA10580133 RCV000220982 |
599 | T>I | Hereditary diffuse gastric adenocarcinoma large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP TOPMed dbSNP gnomAD |
|
CA10583418 COSM19519 rs878854680 RCV000228422 |
600 | I>M | Hereditary diffuse gastric adenocarcinoma breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
rs1961161775 RCV001875794 RCV001176002 |
600 | I>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587782517 RCV000131671 |
602 | F>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000204502 rs864622612 CA348729 |
603 | C>S | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396466761 RCV001865738 RCV000568473 rs864622612 |
603 | C>Y | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1961162483 RCV001297893 |
606 | N>S | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000794487 rs1596963588 RCV002406738 CA396466882 |
609 | P>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000777385 CA396466869 rs1567512385 |
609 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000221471 CA8130154 RCV001853555 rs779351070 |
611 | V>D | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000529171 rs786202965 RCV000166050 CA194868 |
612 | I>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001867888 RCV000571536 rs1555516860 CA396466942 |
613 | N>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001070633 rs1961163698 |
614 | I>N | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000214623 rs587782838 RCV000132427 RCV000701176 CA169831 |
614 | I>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001342053 RCV002412073 rs1003012321 |
615 | I>F | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000219158 rs760707493 CA8130158 RCV000554381 RCV000484607 |
615 | I>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001057677 rs1961163478 |
615 | I>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001358762 CA283312072 RCV000566335 RCV000765307 RCV000701413 rs1003012321 |
615 | I>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA396467010 RCV001013387 RCV000817770 rs1596963675 |
617 | A>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001848935 RCV000532668 RCV000561868 CA396467006 rs33935154 |
617 | A>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA121991 RCV000034706 RCV000120500 RCV000130292 RCV001356764 RCV001798001 COSM19743 VAR_001320 RCV000013018 RCV002490357 rs33935154 RCV000013019 |
617 | A>T | lung Hereditary diffuse gastric adenocarcinoma Breast and/or ovarian cancer large_intestine Hereditary cancer-predisposing syndrome endometrium Familial cancer of breast soft_tissue Endometrial carcinoma detected in an endometrial cancer sample; loss of heterozygosity; cells exhibited an intermediate phenotype concerning aggregation invasiveness and migration in vitro compared to cells transfected with wild-type sequence [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA396467015 rs1596963675 RCV001013388 |
617 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs876659221 RCV000220007 CA10580134 |
619 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA396467041 RCV000543150 rs1555516871 RCV001192629 RCV002413508 |
620 | P>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA192003 RCV000164881 rs786201888 |
620 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000473475 CA190859 RCV000164399 rs786201888 |
620 | P>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001182149 RCV001234141 rs1961165024 |
621 | P>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000160395 RCV001296556 CA299001 rs367849039 |
622 | N>H | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001327299 rs786201678 |
622 | N>K | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA167846 RCV000286705 rs147925149 RCV000123241 RCV000131244 RCV001824619 |
622 | N>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001013450 rs1596963727 CA396467073 RCV001060871 |
623 | T>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001192027 RCV001245497 rs1961165592 |
623 | T>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001215245 CA396467071 RCV001013451 rs1596963727 |
623 | T>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1961165900 RCV001187735 |
624 | S>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1961166045 RCV001326145 |
624 | S>F | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000574184 CA396467094 rs1555516877 |
625 | P>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001188495 rs1961166603 RCV001862981 |
625 | P>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396467112 RCV001013504 rs1596963754 |
626 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000456373 CA10580136 rs876660603 RCV000215202 |
626 | F>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001185688 rs751265976 |
627 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555516886 RCV000584235 CA396467115 |
627 | T>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000573799 RCV000689849 rs1028765743 CA283312155 |
629 | E>Q | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000563149 rs767116004 CA396467146 |
630 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001030612 RCV000131132 RCV001704034 CA157951 VAR_021868 RCV001798384 rs2276331 RCV000195597 RCV000120498 RCV001356003 |
630 | L>V | Hereditary diffuse gastric adenocarcinoma Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1596963827 RCV002406752 RCV000797495 |
632 | H>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002411442 RCV000468989 rs1060501224 |
632 | H>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396467168 RCV000701314 rs33969373 |
632 | H>Q | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1555516892 RCV000508276 RCV003159639 CA396467165 RCV001865648 |
632 | H>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001222627 rs1961168795 |
632 | H>Y | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587782850 RCV000132448 CA169871 RCV001233928 |
633 | G>E | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587781615 RCV000792280 RCV000129704 CA164951 |
633 | G>R | Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
rs1060501240 RCV001045824 |
634 | A>S | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000485862 RCV001189704 RCV000472963 rs1060501240 CA16615256 |
634 | A>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs121964878 CA281003 RCV001013619 COSM19822 RCV000013031 RCV001778650 VAR_055431 RCV001781253 |
634 | A>V | Hereditary diffuse gastric adenocarcinoma large_intestine Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. central_nervous_system stomach found in a gastric cancer sample; cells exhibited decreased aggregation increased invasiveness and non-uniform migration in vitro compared to cells transfected with wild-type sequence [ClinVar, Cosmic, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000571740 rs1318805721 CA396467194 |
635 | S>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA10580138 RCV000221626 RCV000693174 rs876658950 |
636 | A>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002406376 rs1555516894 RCV000639220 CA396467214 |
636 | A>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1749722 rs1567512585 CA396467238 COSM19418 RCV000736284 |
638 | W>* | Hereditary diffuse gastric adenocarcinoma large_intestine urinary_tract breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV001050581 rs1961170989 |
638 | W>* | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000695428 rs1555516895 CA396467243 RCV000564925 |
639 | T>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1961171304 RCV001305555 |
639 | T>I | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000639279 rs1555516896 |
640 | I>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000132257 CA169506 rs587782750 COSM3818354 RCV000662630 |
641 | Q>* | Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000696378 RCV000214635 rs876660113 RCV000486533 CA10580139 |
641 | Q>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1961172043 RCV001257972 |
642 | Y>* | Cleft lip/palate [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587781540 RCV000129550 RCV001849924 RCV001577632 CA164642 |
643 | N>D | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587781540 RCV001187105 |
643 | N>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001204247 rs374152504 CA396467274 RCV000574637 |
643 | N>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001298561 CA396467272 RCV000771398 rs1567512606 |
643 | N>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002408981 CA396467280 RCV002466592 rs1596963973 RCV000821331 |
644 | D>E | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM1479031 rs587781696 RCV000588229 RCV001030613 CA165250 RCV000231981 RCV000129863 |
644 | D>N | Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome breast Hereditary breast ovarian cancer syndrome [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs747240698 RCV001182683 CA8130165 |
645 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000328438 RCV000571504 rs771064558 CA8130166 RCV002268028 |
646 | T>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001072027 rs1331707958 |
646 | T>S | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM256583 rs971882211 CA396467508 RCV000536569 RCV001268570 |
648 | E>* | Hereditary diffuse gastric adenocarcinoma large_intestine Variant assessed as Somatic; impact. [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1596965497 RCV000791645 CA396467513 |
648 | E>D | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs971882211 RCV001343939 |
648 | E>K | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA16620254 RCV000639224 RCV000478373 rs971882211 RCV002413332 |
648 | E>Q | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1238607560 RCV000525333 CA396467519 RCV001335129 RCV000562356 |
649 | S>F | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Blepharocheilodontic syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555517074 RCV000561883 RCV001712585 |
650 | I>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA194456 RCV000165892 rs747235838 RCV000478403 RCV000550538 RCV000780091 |
650 | I>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555517077 CA396467521 RCV000535633 |
650 | I>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555517074 RCV000551453 |
651 | I>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001293820 rs1961224452 |
651 | I>* | Colorectal cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
rs876660503 RCV001072069 |
651 | I>F | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001865713 CA396467531 rs1555517083 RCV000570006 |
651 | I>M | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555517080 RCV002526780 CA396467530 RCV000571180 |
651 | I>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000217003 CA10580140 rs876660503 RCV000528946 |
651 | I>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000761061 rs1567513174 CA396467536 |
652 | L>W | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555517084 RCV001189137 RCV000521821 RCV002525141 CA396467544 |
653 | K>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1961224909 RCV001035780 |
654 | P>* | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1961225123 RCV001067069 |
655 | K>N | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs757422353 RCV001187273 CA8130181 |
657 | A>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1961225323 RCV001338608 |
657 | A>S | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1961225620 RCV001238502 |
658 | L>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000213110 CA10580141 rs368243190 |
659 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1961225880 RCV001295559 |
659 | E>G | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555517090 RCV000820444 CA396467590 RCV000573208 |
660 | V>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000568722 rs1555517090 RCV002528008 CA396467592 |
660 | V>E | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000539244 rs769844369 RCV000568800 CA8130183 |
660 | V>M | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1596965628 RCV000820046 |
661 | G>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000160368 RCV001071200 rs730881653 |
661 | G>* | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8130184 RCV001231686 rs756092625 RCV001187274 |
661 | G>D | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
rs1596965647 CA396467598 RCV000802791 |
662 | D>N | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596965647 RCV001068957 |
662 | D>Y | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000766709 RCV000212376 CA294086 rs372182377 RCV001355594 RCV000129549 RCV000197868 |
663 | Y>C | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV001043759 rs1275496047 RCV001805990 CA396467613 |
664 | K>Q | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA396467617 RCV000569362 rs1436479908 RCV001858275 |
664 | K>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1567513227 RCV000694737 |
665 | I>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs864622503 CA349500 RCV000205339 |
665 | I>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs150427791 RCV001001975 CA192499 RCV000165090 RCV000206535 RCV000679568 |
666 | N>H | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001040000 CA396467632 rs1167042883 |
666 | N>K | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen TOPMed ClinVar dbSNP |
|
RCV000376724 RCV000810597 RCV001804893 rs786202033 RCV000164640 |
667 | L>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396467634 RCV000699936 rs1567513251 |
667 | L>F | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1567513251 RCV001232898 |
667 | L>I | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001014042 RCV000705015 RCV001568878 rs1490366214 CA396467649 RCV002268265 |
669 | L>F | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000701262 CA396467647 rs1490366214 |
669 | L>I | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA396467648 rs1490366214 RCV001014040 RCV000639214 |
669 | L>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000214785 CA8130186 RCV000808326 rs773006015 |
670 | M>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000220503 RCV000467277 CA10580143 RCV000481368 rs876660107 |
670 | M>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001215974 rs1961229029 |
673 | Q>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396467681 rs1596965752 RCV003166186 RCV000799988 |
673 | Q>H | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000459635 RCV000589626 CA294129 RCV000129870 rs587781701 RCV001798437 |
673 | Q>K | Hereditary diffuse gastric adenocarcinoma Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001264450 RCV000123242 RCV000212378 RCV000131485 CA294385 rs201637081 |
674 | N>Y | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs876660230 RCV000214763 RCV000807275 CA10580144 |
675 | K>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000505788 RCV001857242 rs1555517099 CA396467701 |
676 | D>E | Hereditary diffuse gastric adenocarcinoma Blepharocheilodontic syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000212379 CA299004 rs115408226 RCV000160396 RCV000168234 |
676 | D>N | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA8130187 rs115408226 RCV001315583 RCV001014107 |
676 | D>Y | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1555517100 RCV000991082 RCV000566615 |
677 | Q>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10580145 RCV001062288 RCV000218033 rs876659352 |
678 | V>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1961229985 RCV002258202 RCV001324150 |
679 | T>N | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000460790 rs876658936 RCV000213812 CA10580146 |
680 | T>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596965795 CA396467733 RCV001014171 |
682 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396467741 rs758872535 RCV000823610 |
683 | V>F | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA396467747 rs1407001897 RCV001014201 RCV000553035 |
684 | S>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000215976 CA10580147 RCV000703993 rs550612843 |
685 | V>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM1379190 RCV000206023 CA345666 RCV000656822 rs550612843 RCV000120501 RCV000574058 |
685 | V>M | Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA396467760 RCV000579846 rs1555517113 |
686 | C>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003162572 RCV000168178 RCV000507739 rs587781276 RCV002498637 RCV000128928 |
688 | C>* | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast Gastric cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1272471005 CA396467793 RCV002416399 RCV001054101 |
690 | G>E | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000522062 RCV000541735 rs569086883 CA8130191 RCV000574645 |
691 | A>D | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA10580148 RCV000216757 RCV003153513 rs876660560 RCV000225820 |
691 | A>T | Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Ovarian cancer [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs569086883 RCV001863013 RCV001190108 |
691 | A>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000478155 CA16620255 COSM972798 rs1064794090 RCV001014330 |
692 | A>T | Hereditary cancer-predisposing syndrome endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs376854556 RCV000656823 CA157957 RCV000120502 COSM972798 RCV000574554 RCV000199731 |
692 | A>T | Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001053147 rs1961232395 |
692 | A>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001717981 rs876661133 |
693 | G>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs386833398 RCV000129247 CA164042 RCV000034707 |
693 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1640537 CA288051 RCV000530518 rs587780118 RCV002509224 RCV000115849 RCV000222804 RCV002288600 |
694 | V>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast stomach [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar dbSNP gnomAD |
|
RCV001181920 rs1961233403 |
695 | C>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596965963 CA396467823 RCV000820085 |
696 | R>K | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000580064 CA396467829 rs1555517126 RCV001853872 |
697 | K>E | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1961233865 RCV001177735 RCV001875775 RCV001175270 |
697 | K>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002510971 RCV000771206 rs1167040681 CA396467837 |
698 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1064795359 RCV000811072 RCV002420233 RCV000483072 CA16620256 |
698 | A>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs121964874 COSM19486 CA280993 RCV000013024 |
699 | Q>* | Hereditary diffuse gastric adenocarcinoma stomach [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
rs121964874 RCV000132483 CA169924 |
699 | Q>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001178372 CA10583419 RCV000229798 RCV002247673 rs878854681 |
700 | P>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001821242 CA16615409 RCV000470718 RCV000569207 RCV002298596 rs878854681 |
700 | P>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1555517136 RCV000583312 RCV000639209 |
701 | V>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396467850 rs1426734014 RCV001218011 RCV000566347 |
701 | V>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000530851 RCV002420415 CA396467856 rs149127230 |
702 | E>* | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA288054 RCV000588944 RCV001196782 RCV000200454 RCV000115850 rs149127230 RCV000212381 |
702 | E>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Endometrial carcinoma [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000695360 RCV000561482 CA16620257 rs149127230 RCV000480639 |
702 | E>Q | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs876658987 CA10580149 RCV000222037 |
703 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001241446 RCV000704119 RCV001014501 rs1567513430 CA396467868 |
704 | G>R | Hereditary cancer-predisposing syndrome Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001240242 CA8130194 rs759256066 |
705 | L>F | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001205692 rs1961235503 |
706 | Q>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000639231 RCV000129251 rs587781401 CA164055 |
706 | Q>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1961235726 RCV001191014 |
707 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060501233 RCV000471426 CA16614982 RCV001014524 |
708 | P>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396467898 RCV001014541 rs138101372 COSM19510 |
709 | A>T | Hereditary cancer-predisposing syndrome breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC dbSNP gnomAD |
|
CA10580150 RCV000219281 RCV002264922 rs876660625 RCV001046040 |
710 | I>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002418677 rs1961236313 RCV001204076 |
710 | I>M | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001356883 RCV000382368 COSM19742 CA121988 rs121964871 VAR_001321 RCV000130551 RCV000013017 RCV001818150 RCV000196099 |
711 | L>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome endometrium Endometrial carcinoma detected in an endometrial cancer sample [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP gnomAD |
|
RCV000580740 rs1289236005 CA396467921 RCV002529096 |
713 | I>F | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1567513466 RCV000777552 RCV001856148 CA396467924 |
713 | I>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000584408 RCV001712594 rs1555517153 |
715 | G>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396467950 rs1205147360 RCV000561368 |
717 | I>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002424858 CA396467948 RCV000802620 rs1596966137 |
717 | I>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001014605 CA10577551 rs876658591 RCV001228167 RCV000213313 |
718 | L>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000214616 rs876658591 CA10580151 |
718 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA396467967 RCV000736286 rs1567513504 |
721 | L>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596966182 RCV000793040 CA396467971 |
722 | I>L | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10583420 RCV002429114 rs878854682 RCV000232644 |
722 | I>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8130225 RCV000589724 RCV000544825 rs578069093 RCV000575210 |
727 | L>F | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001059856 rs1961373863 |
728 | L>F | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596970676 RCV001014694 |
729 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396469387 rs1567515336 RCV002424682 RCV000699295 |
729 | L>P | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000475537 rs1060501235 COSM1749723 CA16614989 |
731 | L>F | Hereditary diffuse gastric adenocarcinoma urinary_tract [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1060501244 CA396469477 RCV002258101 RCV001046500 |
732 | R>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060501244 COSM972800 RCV000475163 RCV001090443 RCV000492116 CA16615410 |
732 | R>Q | Hereditary diffuse gastric adenocarcinoma large_intestine Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. endometrium breast [ClinVar, Cosmic, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV002288823 RCV000203693 CA347994 RCV001795330 rs864622198 RCV000569039 |
732 | R>W | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. Familial cancer of breast [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1555517637 RCV001048345 |
733 | R>S | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA165868 RCV001849928 RCV000130171 rs587781859 |
734 | R>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000538100 rs745717070 CA8130227 RCV001778996 RCV002268149 RCV000567522 |
734 | R>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001582696 CA336308 RCV000196295 RCV000480068 RCV000561514 rs587781859 |
734 | R>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000460180 rs587782464 RCV000775805 CA16615412 |
735 | A>E | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA396469551 RCV001339327 rs587782464 RCV002431946 |
735 | A>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000212382 rs587782464 RCV000206685 RCV000656824 RCV000131554 CA294397 COSM309986 |
735 | A>V | lung Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA396469581 RCV002304220 RCV001014729 rs1596970752 RCV000985659 |
736 | V>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001175936 rs1555517644 |
737 | V>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000582177 rs1555517644 CA396469583 |
737 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000548418 CA396469638 rs1555517647 |
739 | E>G | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001053776 rs1555517647 |
739 | E>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs773795943 CA396469650 RCV000570624 RCV002528125 |
740 | P>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA299007 RCV000160397 rs730881669 RCV000221772 RCV000335165 |
740 | P>H | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000567386 rs773795943 RCV000525737 CA8130230 COSM19777 RCV000586796 RCV001030614 |
740 | P>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome breast Hereditary breast ovarian cancer syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
|
RCV001210047 rs1961377163 |
742 | L>R | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10580152 RCV000222818 RCV001269240 RCV001216954 rs786203005 |
743 | P>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001048843 RCV000166116 rs786203005 CA195051 |
743 | P>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000639227 rs786203005 RCV001284127 CA396469685 RCV000572929 |
743 | P>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000759014 RCV001014887 rs1001200905 RCV001264449 RCV000462140 CA16614994 |
744 | P>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001218955 rs1001200905 RCV002429934 |
744 | P>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs761146693 RCV001875903 RCV001178520 |
744 | P>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002424661 rs1267384637 RCV000695844 CA396469749 |
745 | E>D | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1596970862 CA396469734 RCV001341756 RCV001014893 |
745 | E>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001858092 rs1408841952 CA396469762 RCV000572586 |
746 | D>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001876193 CA8130234 rs766636655 RCV001187276 |
746 | D>N | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001303401 rs1961378823 |
747 | D>E | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000461277 CA16614995 rs1060501222 |
747 | D>G | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs769819324 RCV000579596 CA283314848 |
747 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555517660 CA396469797 RCV000568319 RCV000528425 |
748 | T>N | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396469798 RCV000781216 RCV002420416 rs1555517660 RCV000538680 |
748 | T>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000164201 RCV000120503 RCV000123244 rs530717933 RCV000657030 COSM471991 CA157960 |
749 | R>Q | kidney Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
RCV000774774 RCV001355065 CA8130235 RCV000663000 rs776975632 RCV000479819 |
749 | R>W | Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP |
|
RCV000216187 CA8130236 rs759608783 RCV000554709 |
750 | D>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001592877 CA396469810 rs1567515435 RCV001183070 RCV000690254 |
750 | D>N | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA283314854 RCV001371634 RCV001187277 rs33964119 CA283314856 |
751 | N>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001014938 rs1596970924 CA396469869 |
751 | N>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587781351 CA163869 RCV000129135 RCV000229329 RCV000479491 RCV002265613 |
752 | V>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1596970973 RCV001014954 CA396469906 |
753 | Y>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396469944 rs1596970988 RCV001014975 |
754 | Y>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000485531 RCV000411136 RCV000165420 CA193357 rs767613429 |
754 | Y>C | Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA396469962 rs876658944 RCV000736287 RCV002442563 |
755 | Y>* | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000128868 RCV001192628 RCV000818773 CA163492 RCV000759727 rs187289510 |
755 | Y>C | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV002445241 rs1961380635 RCV001043700 |
755 | Y>H | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001340446 rs1567515480 CA396469981 RCV001014990 RCV000692039 |
756 | D>E | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP ClinGen Ensembl |
|
RCV000639256 CA396469974 rs1555517677 RCV002448992 |
756 | D>H | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16620259 RCV000478876 rs1064794232 RCV000694526 |
757 | E>K | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000219405 rs876661070 RCV001214525 |
758 | E>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396470014 rs786202785 RCV000639210 |
758 | E>* | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786202785 CA194182 RCV000165772 |
758 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000991080 rs1555517680 RCV000657197 RCV001014872 |
759 | G>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs945866627 RCV000639253 CA283314881 RCV000568881 RCV003144385 |
759 | G>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001345290 rs1961382208 |
760 | G>S | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000214313 CA10580154 RCV000807990 rs876659664 |
761 | G>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001867887 RCV000571214 CA396470073 rs876659664 |
761 | G>E | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
RCV000492622 CA8130238 rs779648243 RCV000462218 |
761 | G>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001050931 rs876659664 |
761 | G>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000233310 RCV000287743 RCV001194011 rs878854683 RCV000564966 |
761 | G>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587780787 CA332835 RCV000223099 RCV000568475 RCV000123245 COSM1659148 |
763 | E>* | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome breast [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA396470094 rs587780787 RCV001015069 |
763 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001066681 RCV000215264 rs61747636 CA10580155 |
764 | D>E | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA396470113 RCV001015092 RCV000553785 rs1555517687 |
764 | D>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000709398 RCV000222740 CA10580156 rs876658575 |
765 | Q>* | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001183021 CA396470725 rs1471460728 RCV000810572 |
766 | D>Y | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs786201999 RCV000164575 CA191306 RCV000473327 |
768 | D>N | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1596972367 RCV000816476 CA396470780 |
769 | L>F | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001184180 rs1961424109 |
769 | L>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000566098 CA8130255 rs766222121 |
769 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1961424317 RCV001040219 |
770 | S>G | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001260580 RCV000492719 rs1131690813 CA396470822 |
771 | Q>* | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396470824 rs1182000968 RCV001324537 |
771 | Q>R | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1596972390 RCV001015161 CA396470842 |
772 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000132399 RCV000212384 rs587782823 RCV000459654 CA294526 |
773 | H>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1555517823 RCV000566685 CA396470852 |
773 | H>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8130256 RCV000483919 COSM1379194 rs753540183 RCV000639284 RCV000570862 |
774 | R>G | Hereditary diffuse gastric adenocarcinoma large_intestine Hereditary cancer-predisposing syndrome [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1596972434 RCV001321401 |
774 | R>K | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596972434 CA396470871 RCV001015183 |
774 | R>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1060501248 RCV002451095 RCV000464624 |
775 | G>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000773343 CA396470887 rs778581202 |
775 | G>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1163417116 RCV000532237 CA396470885 RCV003222023 |
775 | G>S | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA8130257 RCV000688215 rs778581202 RCV001544896 |
775 | G>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA16614996 rs114265540 RCV000561784 RCV000463537 |
777 | D>E | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs372989292 RCV000206674 VAR_033027 RCV000487740 CA157963 RCV001798345 RCV000120504 RCV000115851 |
777 | D>N | Hereditary diffuse gastric adenocarcinoma Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome a breast cancer sample; somatic mutation [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs1961426295 RCV001320871 |
777 | D>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396470925 rs876659951 RCV000573911 |
778 | A>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000664263 rs876659951 CA396470928 |
778 | A>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000562000 RCV000233980 RCV002247674 CA8130258 rs777078601 |
778 | A>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001853599 CA10580158 RCV003114390 rs876659951 RCV000218359 |
778 | A>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
rs876660183 RCV001175778 |
779 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587781311 RCV001233954 |
779 | R>P | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000212385 CA293940 RCV000129040 rs587781311 RCV001375527 RCV000227820 |
779 | R>Q | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000457635 RCV000484296 rs876660183 CA10580159 RCV000780099 RCV000218940 |
779 | R>W | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555517841 RCV000557378 CA396470952 RCV001015223 |
780 | P>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000234640 rs587780119 RCV000115852 RCV001762233 CA151521 RCV000225693 RCV000780095 |
781 | E>D | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA8130260 rs746274636 RCV001185076 RCV001062473 |
782 | V>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001509558 CA10580160 RCV000217807 rs876658467 RCV000699151 |
783 | T>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000219916 CA8130262 rs775922721 RCV000531308 |
784 | R>C | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000481744 CA348375 RCV000204130 rs763203357 RCV000563859 |
784 | R>H | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000761165 rs763203357 CA396471002 |
784 | R>P | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1961428463 RCV001310028 |
786 | D>G | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000214749 RCV000471268 CA10580161 rs876659218 |
786 | D>N | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001358013 RCV003159106 RCV000168317 rs766270336 RCV000165982 CA194701 |
787 | V>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1961428876 RCV001188837 |
788 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA164227 RCV000129335 RCV000545072 RCV000506194 rs139096339 |
788 | A>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000693109 rs1567516121 CA396471079 |
789 | P>L | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001058691 rs1961429193 |
789 | P>S | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001293918 RCV000115853 RCV001280598 RCV003149806 rs587780120 CA288057 RCV000212386 RCV000123246 |
790 | T>I | Hereditary diffuse gastric adenocarcinoma Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome Blepharocheilodontic syndrome 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA396471086 RCV001015307 rs587780120 |
790 | T>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001355113 RCV002492661 RCV000205557 CA193525 rs786202598 RCV000165485 |
791 | L>F | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001030615 rs786202598 |
791 | L>V | Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000805313 rs1596972662 CA396471109 |
792 | M>I | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA8130265 RCV000696925 RCV000576000 RCV001755931 rs759380419 |
792 | M>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs752349229 CA8130266 RCV000566576 RCV000482374 RCV000706062 |
792 | M>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA8130264 RCV000693192 rs759380419 RCV001188666 RCV000222815 |
792 | M>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000166300 rs786203128 CA195505 |
793 | S>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000559870 rs1447544874 RCV001015331 CA396471138 |
794 | V>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000205207 RCV000131558 rs587782466 RCV001354689 CA168355 RCV000484196 |
794 | V>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001351555 rs1555517888 |
795 | P>L | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396471151 rs1555517888 RCV000639242 |
795 | P>R | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396471146 rs1298997936 RCV001058083 |
795 | P>S | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555517889 RCV000639217 |
796 | R>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000013023 RCV001015363 RCV001174971 RCV001804726 rs1375617541 |
796 | R>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001762316 RCV000131762 rs587782549 RCV000587217 RCV000228473 CA168715 RCV002271418 |
796 | R>Q | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs777363517 CA8130267 RCV000792585 RCV001015360 RCV000582952 RCV001358327 |
796 | R>W | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1961431691 RCV001061042 |
797 | Y>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000131408 rs587782394 CA168112 RCV001036450 |
797 | Y>C | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA163797 RCV000167901 RCV000129091 RCV001262763 rs587781335 |
799 | P>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596972749 RCV000793249 CA396471192 |
799 | P>S | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000144591 rs587783048 RCV000592579 RCV000657198 |
800 | R>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000130753 RCV000204619 RCV000765308 rs587782162 CA167042 RCV001544684 |
800 | R>C | Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000131445 rs370345996 RCV000212387 RCV000198268 CA294379 |
800 | R>H | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs370345996 CA396471207 RCV000639262 RCV001015407 |
800 | R>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs876660704 RCV000217230 RCV000796116 CA10580162 |
801 | P>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001211695 rs1596972797 |
802 | A>D | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000815724 CA396471232 rs1596972797 |
802 | A>G | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs780510260 RCV000562840 CA8130270 RCV001312355 |
803 | N>D | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1596972823 CA396471259 RCV001015449 RCV001036415 |
804 | P>H | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001354668 rs1481419710 RCV000996293 RCV000705266 RCV000564560 CA396471272 |
805 | D>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000120505 RCV000858568 RCV000123247 RCV001357821 CA157966 RCV001798346 rs200894246 RCV000115854 |
805 | D>N | Hereditary diffuse gastric adenocarcinoma Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002298882 RCV001181251 rs1961433417 |
805 | D>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000812843 rs1481419710 CA396471274 |
805 | D>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001015273 RCV000217698 CA8130271 rs376922615 RCV000533790 |
806 | E>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001593218 RCV002451197 RCV001048530 rs1961433736 |
807 | I>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001034597 rs1961434061 |
809 | N>missing | Cleft lip with or without cleft palate [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8130273 rs772173832 RCV000815787 |
809 | N>K | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002442503 rs1427872591 RCV000701265 CA396471334 |
809 | N>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000167195 RCV000484305 RCV000204049 rs786203752 |
810 | F>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396471352 RCV002559199 RCV001191712 rs1236811420 |
810 | F>C | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA396471341 rs1178559383 RCV000689679 |
810 | F>L | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555517918 RCV000558957 CA396471366 RCV002456107 |
811 | I>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000548706 CA396471360 RCV002448678 rs1555517917 |
811 | I>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000232461 rs878854684 CA10583422 RCV002487070 |
812 | D>G | Hereditary diffuse gastric adenocarcinoma Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001015538 rs1413760846 RCV001819727 CA396471409 |
813 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1596972922 CA396471402 RCV000797724 |
813 | E>G | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1596976114 RCV000792103 |
815 | L>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000802624 CA396471955 rs1596976107 |
815 | L>R | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000593954 RCV000639208 rs1555518211 CA396471960 |
816 | K>* | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002298674 CA396471958 rs1555518211 RCV000562032 |
816 | K>E | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001337320 rs1961532809 |
816 | K>I | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000547768 CA8130295 rs762704513 RCV001805166 |
816 | K>N | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001798445 RCV000471390 rs587782024 RCV000130457 CA166465 RCV000656825 COSM1679223 |
817 | A>V | Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; 0.0 impact. Breast and/or ovarian cancer Hereditary cancer-predisposing syndrome haematopoietic_and_lymphoid_tissue breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001015601 CA10583423 RCV000228053 rs878854685 |
820 | T>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA8130297 RCV001232984 RCV000569945 RCV000485072 rs767159815 |
820 | T>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000472121 CA16615001 rs876660086 |
822 | P>A | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396472028 RCV000639250 rs1555518215 |
822 | P>L | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001351626 rs1555518215 |
822 | P>R | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10580163 rs876660086 RCV000467419 RCV000213124 |
822 | P>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000574257 CA10583424 rs878854686 RCV000232027 |
823 | T>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1961533891 RCV001235328 |
823 | T>I | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396472043 rs1450920019 RCV002448679 RCV000527398 |
824 | A>D | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA396472045 RCV001015664 rs1450920019 RCV000639238 COSM972804 |
824 | A>V | Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000812733 rs1555518221 |
825 | P>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587781312 RCV000478861 RCV000765309 CA163713 RCV002286408 COSM393288 RCV001264574 RCV000129041 RCV000200831 |
825 | P>L | lung Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001584376 rs1555518221 RCV000574087 RCV000792226 |
826 | P>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002447310 RCV001305838 rs1961534415 |
826 | P>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1596976243 RCV001015647 CA915949334 |
827 | Y>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555518224 RCV000548051 CA396472083 |
827 | Y>C | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1265463733 RCV000526467 CA396472110 |
829 | S>A | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA349933 RCV000205814 rs864622310 |
829 | S>Y | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001712455 rs1131690822 RCV000492088 |
831 | L>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001873266 RCV001015702 rs35572355 CA396472149 CA8130303 |
832 | V>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000013033 CA157969 RCV000148456 RCV000587650 RCV001030616 RCV000120506 rs35572355 VAR_023358 RCV000115856 |
832 | V>M | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Neoplasm of stomach Hereditary breast ovarian cancer syndrome DGLBC [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA336541 RCV002426951 RCV000196588 rs863224728 |
833 | F>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000686764 rs1567517670 CA396472178 |
834 | D>N | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs786202613 RCV001180919 |
835 | Y>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1961536275 RCV001054232 RCV002451225 |
835 | Y>C | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1961536179 RCV001219595 |
835 | Y>H | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001260574 RCV000565359 rs1555518236 |
836 | E>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000567031 rs1555518239 CA396472215 RCV000736285 |
836 | E>* | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001297271 rs1961536737 |
837 | G>E | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM19745 rs121964872 RCV001253384 RCV000115857 RCV002490358 RCV001719696 RCV000198450 VAR_001322 RCV000013020 RCV000212390 CA121994 |
838 | S>G | ovary Hereditary diffuse gastric adenocarcinoma large_intestine Hereditary cancer-predisposing syndrome Familial cancer of breast Neoplasm of ovary an ovarian carcinoma sample; somatic mutation; loss of heterozygosity [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001062653 RCV002429698 rs770974998 |
838 | S>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA396472268 rs587780121 RCV000820092 |
839 | G>C | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001063026 RCV003160512 rs1961537321 |
839 | G>D | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587780121 RCV000212391 RCV000231558 RCV000115858 CA288061 |
839 | G>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs587781300 CA163646 RCV000129009 |
840 | S>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000580210 CA396472282 RCV000541339 rs1555518243 |
840 | S>P | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000481767 RCV000217393 CA10580164 COSM972806 RCV000467375 rs377489352 |
841 | E>K | Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome endometrium [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV002430113 RCV001305733 rs377489352 |
841 | E>Q | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs786203774 RCV000167225 CA197774 |
842 | A>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001260566 rs1961538047 |
843 | A>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
CA8130304 rs768350776 RCV000701451 RCV000572215 |
843 | A>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs761400928 RCV002249475 RCV000774780 CA8130306 |
844 | S>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001054061 RCV002429658 rs1961538497 |
844 | S>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001015857 rs761400928 CA396472322 |
844 | S>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1247754103 RCV000568605 RCV000781208 RCV001858155 CA396472327 |
844 | S>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1247754103 RCV000773015 CA396472325 RCV001212653 |
844 | S>T | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA396472359 RCV000563237 RCV000556174 rs1555518248 |
847 | S>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000639221 rs1555518249 RCV001015880 CA396472361 |
847 | S>C | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555518249 RCV001319130 |
847 | S>F | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000222119 RCV000685079 CA10580165 rs876660881 |
849 | N>D | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001323255 rs1961539722 |
849 | N>S | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000214510 rs876661286 RCV001260573 |
850 | S>missing | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000130681 RCV000991098 rs587782135 |
850 | S>missing | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000564119 RCV000530113 rs1337211551 CA396472399 |
850 | S>C | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1337211551 RCV001063302 |
850 | S>F | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001760128 RCV001177743 rs1961540099 |
850 | S>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1485384861 RCV001231652 CA396472428 RCV000563765 |
852 | E>A | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA8130309 rs760315494 RCV001223608 |
852 | E>D | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs569928380 RCV000165032 RCV000759731 RCV000466545 CA192344 |
853 | S>L | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA8130310 RCV001775937 rs765978401 RCV000639259 RCV001015954 |
853 | S>P | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001212155 rs1961541103 |
854 | D>A | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555518257 RCV000580229 RCV002248792 CA396472449 |
854 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1961541103 RCV001294342 |
854 | D>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000704078 rs1567517789 CA396472487 |
856 | D>A | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001015975 CA396472491 RCV001873270 rs1596976533 |
856 | D>E | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
COSM120855 RCV000704728 rs1060501245 RCV000462875 RCV000561082 CA16615268 RCV001805821 CA396472527 |
858 | D>E | upper_aerodigestive_tract Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000483138 CA166468 rs587782025 RCV000200282 RCV000130458 |
858 | D>H | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA396472516 RCV001015989 rs587782025 |
858 | D>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs765545887 RCV001237616 |
859 | Y>* | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001015994 CA396472532 rs1596976571 RCV000802032 |
859 | Y>C | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396472529 RCV001015993 RCV002549431 rs1596976564 |
859 | Y>H | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003163251 RCV000700425 CA396472542 rs1412506259 |
860 | D>H | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000700036 CA396472545 rs1412506259 RCV000567113 |
860 | D>N | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002268150 rs1412506259 RCV000554143 CA396472540 RCV002431595 |
860 | D>Y | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA396472563 RCV000810191 rs1185746867 |
861 | Y>D | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000215906 RCV002450646 rs115817750 RCV000639267 CA10577554 |
863 | N>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs142927667 CA8130311 RCV002465577 RCV001292691 RCV000471203 RCV000563816 RCV000216670 |
864 | E>K | Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome Blepharocheilodontic syndrome 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs142927667 RCV000575500 CA349188 RCV000205018 |
864 | E>Q | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000597446 rs1555518270 CA396472624 RCV000662745 |
865 | W>* | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000572174 RCV000765310 CA337184 rs778019174 RCV000197400 |
865 | W>C | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555518267 CA396472622 RCV002440260 RCV000639215 |
865 | W>G | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555518267 RCV002451671 RCV001301458 |
865 | W>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1060501230 RCV000472243 CA16615418 RCV002436406 |
866 | G>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396472643 RCV000811585 RCV001015901 rs1410318220 |
866 | G>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000482832 RCV000766437 RCV001070946 rs587782623 CA169060 COSM1479038 RCV000132006 |
867 | N>S | Hereditary diffuse gastric adenocarcinoma Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome breast [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA349826 RCV000217355 RCV000478079 RCV000205707 rs864622630 |
868 | R>C | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001762471 RCV000218816 rs369126891 CA8130312 RCV000485189 RCV000233357 RCV001824693 |
868 | R>H | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA396472659 RCV001037253 RCV001799514 RCV000572005 rs864622630 |
868 | R>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000570434 rs781274240 CA396472724 |
870 | K>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs749203461 RCV000562588 CA8130315 RCV000816835 |
872 | L>M | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA396472782 rs1555518283 RCV000542909 |
874 | D>H | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA396472815 RCV001859986 rs1555518291 RCV000572512 |
875 | M>I | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs900118000 RCV001338776 |
875 | M>T | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001853873 RCV000581138 RCV001568810 rs1555518287 CA396472802 |
875 | M>V | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000480709 RCV000567842 rs555842031 CA8130317 RCV000639205 |
877 | G>R | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV000115859 RCV001355027 RCV000123251 RCV001253473 RCV000212393 RCV000985661 CA288064 rs200911775 |
879 | G>S | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Familial cancer of breast [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000706626 CA396472901 rs1567517888 |
879 | G>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1555518306 RCV000639280 CA396472911 |
880 | E>G | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000479339 RCV001194010 CA190198 rs34507583 RCV000164164 VAR_023359 RCV000989628 RCV001030617 RCV001355037 |
880 | E>K | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome Hereditary breast ovarian cancer syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA16620261 RCV001211106 RCV000484409 rs34507583 |
880 | E>Q | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1198941336 CA396472924 RCV000572516 RCV000796701 |
881 | D>N | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1555518315 RCV001177993 |
882 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000115860 RCV000212394 CA288067 RCV000232913 rs200104963 RCV002465518 |
882 | D>N | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1961548324 RCV001229054 |
882 | D>V | Hereditary diffuse gastric adenocarcinoma [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000563805 RCV000475260 CA16615002 rs932491569 RCV001813778 |
883 | D>Q | Hereditary diffuse gastric adenocarcinoma Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA8129771 rs587782484 |
3 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs998138284 CA283273416 |
5 | S>I | No |
ClinGen Ensembl |
|
|
CA396451275 rs786201287 |
5 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA396451288 rs746464544 |
6 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs1303550652 CA396451299 |
7 | S>G | No |
ClinGen gnomAD |
|
|
rs587778169 CA157945 RCV000120496 |
9 | S>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1191249318 CA396451378 |
12 | L>P | No |
ClinGen gnomAD |
|
|
CA396451398 rs1192852993 |
14 | L>M | No |
ClinGen gnomAD |
|
|
rs770244203 CA8129776 |
16 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs770244203 CA396451417 |
16 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs775705607 CA8129777 |
16 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs775705607 CA396451423 |
16 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA8129793 rs780470521 |
17 | V>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 19 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 19 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396451614 rs1221633501 |
19 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA283274268 rs865838543 |
22 | C>* | No |
ClinGen gnomAD |
|
|
CA396451818 rs587780789 |
28 | C>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1382043754 CA396451885 |
32 | F>L | No |
ClinGen TOPMed |
|
|
rs1064794682 CA396452029 |
36 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs876661278 RCV000679558 CA396452096 |
40 | T>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10577533 RCV000218039 rs876661278 |
40 | T>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1375178645 CA396452179 |
44 | R>H | No |
ClinGen gnomAD |
|
| TCGA novel | 45 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396452236 rs1308247672 |
47 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 49 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1367719041 CA396452303 |
52 | L>Q | No |
ClinGen gnomAD |
|
|
rs374569322 CA396452300 |
52 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 54 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 57 | F>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396457118 rs1597884542 |
61 | T>I | No |
ClinGen Ensembl |
|
|
rs1051478263 CA283291399 |
93 | N>K | No |
ClinGen Ensembl |
|
|
rs1567501219 CA396457300 RCV000781217 |
94 | P>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs768648027 CA8129824 |
96 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 101 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774301557 CA8129825 |
101 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs550619440 CA283291445 |
103 | W>R | No |
ClinGen gnomAD |
|
| TCGA novel | 108 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8129834 rs528816701 |
122 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA396457468 rs373668742 |
122 | H>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA396457474 rs786202794 |
123 | H>P | No |
ClinGen TOPMed |
|
| VAR_001306 | 123 | H>Y | a gastric cancer sample [UniProt] | No | UniProt |
|
rs115418995 CA396457479 |
124 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| rs1060501215 | 126 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs973519600 CA283296783 |
131 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 141 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8129865 rs777714207 |
143 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA396457600 rs1460999478 |
144 | N>D | No |
ClinGen gnomAD |
|
| TCGA novel | 147 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396457634 rs1288704070 |
150 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 165 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 165 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762388314 CA8129870 |
171 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA283296880 rs549010912 |
176 | V>A | No |
ClinGen Ensembl |
|
|
rs1376749029 CA396457845 |
179 | K>T | No |
ClinGen TOPMed |
|
| TCGA novel | 183 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8129892 rs759668091 |
183 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA283297086 rs200796553 |
184 | K>I | No |
ClinGen 1000Genomes |
|
|
rs1434277339 CA396457886 |
185 | E>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 190 | Y>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_001307 | 193 | T>P | a diffuse gastric cancer sample [UniProt] | No | UniProt |
| TCGA novel | 197 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 199 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 200 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1257844218 CA396457997 |
202 | V>A | No |
ClinGen TOPMed |
|
|
rs753584564 CA8129898 |
203 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 205 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1004655282 CA283297181 |
206 | I>L | No |
ClinGen TOPMed |
|
|
CA396458023 rs1470258333 |
207 | I>V | No |
ClinGen gnomAD |
|
|
rs1064796210 CA16620238 RCV000487179 |
212 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 220 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 220 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396458160 rs1354439750 |
229 | T>I | No |
ClinGen TOPMed |
|
|
rs1377039383 CA396458403 |
234 | A>V | No |
ClinGen TOPMed |
|
|
CA16620241 rs111662525 RCV000479743 |
242 | V>L | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs371612417 COSM19781 CA8129927 |
245 | P>L | large_intestine breast [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
| TCGA novel | 264 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 264 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 267 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 268 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 272 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396458953 rs1555515467 RCV000586470 |
273 | E>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
| VAR_001308 | 274 | G>del | found in gastric carcinoma cell lines [UniProt] | No | UniProt |
|
COSM3818346 rs943875725 CA283298493 CA396459022 |
278 | G>R | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated gnomAD NCI-TCGA |
|
CA396459542 rs1444822940 |
279 | T>A | No |
ClinGen Ensembl |
|
|
rs761269950 CA8129949 |
279 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs761269950 CA396459544 |
279 | T>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 283 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1597893961 CA396459577 |
285 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 289 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 291 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000481971 rs876660645 CA16620243 |
291 | D>Y | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA8129950 rs572375953 |
297 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1167723442 CA396459672 |
300 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 307 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 314 | K>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_001309 | 315 | N>S | lobular breast carcinoma [UniProt] | No | UniProt |
| TCGA novel | 316 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396459848 rs1190209160 |
326 | I>T | No |
ClinGen gnomAD |
|
|
CA8129958 rs752916727 |
333 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1597894647 CA396459935 |
339 | P>L | No |
ClinGen Ensembl |
|
| TCGA novel | 345 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs878854676 RCV001269718 |
346 | Q>* | No |
ClinVar dbSNP |
|
|
rs1371443675 CA396459969 |
346 | Q>R | No |
ClinGen gnomAD |
|
|
rs1273267349 CA396459994 |
350 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 352 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396460032 rs1187410934 |
356 | S>G | No |
ClinGen Ensembl |
|
|
COSM19774 CA396460043 rs1260033180 |
357 | T>I | biliary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1198506273 CA396460080 |
362 | V>E | No |
ClinGen gnomAD |
|
| TCGA novel | 364 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 364 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 365 | V>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_001311 | 370 | D>A | a diffuse gastric cancer sample [UniProt] | No | UniProt |
|
rs1204999927 CA396460197 |
371 | N>K | No |
ClinGen Ensembl |
|
|
RCV000478907 COSM1742969 CA16620246 rs587782359 |
373 | P>R | biliary_tract [Cosmic] | No |
ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD |
|
CA8129997 rs777527338 |
376 | N>D | No |
ClinGen ExAC gnomAD |
|
| rs587783050 | 379 | T>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8130013 rs756938071 |
381 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1273532012 CA396461067 |
385 | P>L | No |
ClinGen Ensembl |
|
|
CA396461096 rs779426744 |
387 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 392 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 400 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| VAR_001312 | 400 | D>del | a gastric carcinoma sample; loss of heterozygosity [UniProt] | No | UniProt |
|
rs753770270 CA8130022 |
406 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA396461346 rs1445178301 |
406 | T>S | No |
ClinGen gnomAD |
|
|
CA283307249 rs187906987 |
410 | E>K | No |
ClinGen 1000Genomes |
|
|
rs1379626654 CA396461587 |
418 | D>A | No |
ClinGen gnomAD |
|
| VAR_001313 | 418 | D>del | a gastric carcinoma sample [UniProt] | No | UniProt |
|
rs1230641631 CA396461833 |
432 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 434 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8130072 rs767885546 |
447 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs532576241 CA283308186 |
455 | A>G | No |
ClinGen Ensembl |
|
|
RCV001283954 rs1960959718 |
457 | T>missing | No |
ClinVar dbSNP |
|
| VAR_001314 | 463 | E>Q | a gastric carcinoma sample [UniProt] | No | UniProt |
|
rs776588895 CA8130074 |
465 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs745617489 CA396462915 |
468 | T>P | No |
ClinGen ExAC gnomAD |
|
| VAR_001317 | 473 | V>D | a diffuse gastric cancer sample [UniProt] | No | UniProt |
|
CA396462989 rs1177546897 |
476 | D>A | No |
ClinGen gnomAD |
|
| TCGA novel | 484 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396463088 rs1331977824 |
486 | F>V | No |
ClinGen gnomAD |
|
|
CA8130082 rs778871891 |
494 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs931521632 CA283308282 |
495 | V>L | No |
ClinGen TOPMed |
|
|
CA283308294 rs56836234 |
498 | D>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 502 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1402430481 CA396463362 |
507 | S>P | No |
ClinGen gnomAD |
|
|
rs1402430481 CA396463360 |
507 | S>T | No |
ClinGen gnomAD |
|
|
CA396463411 rs1240947148 |
508 | Y>S | No |
ClinGen TOPMed |
|
|
CA8130089 rs761356661 |
509 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1273354402 CA396463453 |
510 | A>S | No |
ClinGen gnomAD |
|
|
RCV000586505 CA396463544 rs1555516187 |
514 | D>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 522 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396464874 rs1204671808 |
528 | D>N | No |
ClinGen TOPMed |
|
|
rs753031606 CA8130111 |
534 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA8130110 rs765495095 |
534 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA8130113 rs764282860 |
536 | N>D | No |
ClinGen ExAC |
|
|
CA8130118 rs747801796 |
548 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA396465241 rs1596960552 |
552 | D>E | No |
ClinGen Ensembl |
|
|
CA396465239 rs1596960544 |
552 | D>G | No |
ClinGen Ensembl |
|
|
CA8130120 rs566103420 |
554 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 560 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs587782061 CA283310465 |
562 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA8130121 rs770201038 |
564 | L>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 570 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8130143 rs767636524 |
573 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs759536558 CA16620253 RCV000479921 |
576 | T>A | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 583 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555516823 RCV000599356 |
583 | L>missing | No |
ClinVar dbSNP |
|
|
CA396466498 rs1458799670 |
587 | D>V | No |
ClinGen gnomAD |
|
|
CA8130147 rs758238240 |
589 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 597 | P>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA283312012 rs377302798 |
599 | T>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1044050273 CA283312021 |
600 | I>T | No |
ClinGen TOPMed |
|
| TCGA novel | 603 | C>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000586427 rs1555516856 CA396466898 |
610 | Q>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA8130156 rs587782838 |
614 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs367849039 CA283312108 |
622 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751265976 CA8130160 |
627 | T>R | No |
ClinGen ExAC |
|
|
rs767116004 CA8130161 |
630 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs587781615 CA8130162 |
633 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA8130163 rs755482251 |
637 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 644 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8130164 rs587781696 |
644 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA396467497 rs1331707958 |
646 | T>N | No |
ClinGen gnomAD |
|
|
RCV001090442 rs778195664 |
647 | Q>* | No |
ClinVar dbSNP |
|
|
CA8130180 rs778195664 |
647 | Q>E | No |
ClinGen ExAC |
|
| TCGA novel | 656 | M>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396467561 rs1596965571 |
656 | M>L | No |
ClinGen Ensembl |
|
|
rs781280931 CA8130182 |
659 | E>K | No |
ClinGen ExAC gnomAD |
|
| rs1567513227 | 665 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs897830106 CA283312916 COSM972796 |
666 | N>S | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 674 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1555517100 | 677 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8130188 rs764788846 |
678 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs758872535 CA8130189 |
683 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1401120990 CA396467761 |
686 | C>Y | No |
ClinGen gnomAD |
|
|
CA163542 rs587781276 |
688 | C>* | No |
ClinGen TOPMed |
|
|
rs376854556 CA283312956 |
692 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs9282655 CA283312973 VAR_021869 |
695 | C>R | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs1167040681 CA396467838 |
698 | A>S | No |
ClinGen gnomAD |
|
|
CA396467836 rs1167040681 |
698 | A>T | No |
ClinGen gnomAD |
|
|
rs121964874 CA8130192 |
699 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1426734014 CA396467852 |
701 | V>F | No |
ClinGen gnomAD |
|
|
rs1426734014 CA396467851 |
701 | V>L | No |
ClinGen gnomAD |
|
|
CA396467894 RCV000985658 rs1060501233 |
708 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA8130196 rs138101372 |
709 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA396467903 rs876660625 |
710 | I>V | No |
ClinGen gnomAD |
|
|
rs1385460487 CA396467918 |
712 | G>V | No |
ClinGen gnomAD |
|
|
rs1289236005 RCV001194007 |
713 | I>V | No |
ClinVar dbSNP |
|
|
CA396467935 rs1358094794 |
715 | G>E | No |
ClinGen gnomAD |
|
|
CA8130199 rs752041032 |
719 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA8130198 rs764703133 |
719 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA396467960 rs1181973072 |
720 | L>V | No |
ClinGen gnomAD |
|
|
COSM558820 CA8130229 rs768163102 |
738 | K>R | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs761146693 CA8130233 |
744 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs587781351 CA8130237 |
752 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA283314870 rs267604605 |
753 | Y>H | No |
ClinGen Ensembl |
|
| TCGA novel | 756 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 757 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 757 | E>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 765 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396470722 rs1471460728 |
766 | D>H | No |
ClinGen TOPMed |
|
|
rs1445658216 CA396470767 |
768 | D>E | No |
ClinGen gnomAD |
|
|
CA283318253 rs754162869 |
770 | S>R | No |
ClinGen Ensembl |
|
| rs1060501248 | 775 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 785 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 788 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1596972607 CA396471081 |
790 | T>P | No |
ClinGen Ensembl |
|
|
CA396471119 rs1357766058 |
793 | S>N | No |
ClinGen gnomAD |
|
|
rs370345996 CA8130269 |
800 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1596972818 CA396471256 |
804 | P>S | No |
ClinGen Ensembl |
|
|
rs761852331 CA8130272 |
807 | I>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 810 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1223994260 CA396471977 |
818 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 826 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA8130299 rs767045364 |
827 | Y>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 829 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 834 | D>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774148258 CA8130305 |
843 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA8130307 rs767315263 |
848 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA396472438 rs765978401 |
853 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA396472463 rs1172127740 |
854 | D>E | No |
ClinGen TOPMed |
|
| TCGA novel | 854 | D>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA396472561 rs1185746867 |
861 | Y>H | No |
ClinGen gnomAD |
|
|
CA396472641 rs1410318220 |
866 | G>D | No |
ClinGen gnomAD |
|
|
CA396472648 rs1596976659 |
867 | N>D | No |
ClinGen Ensembl |
|
|
rs781274240 CA8130313 |
870 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1457628508 CA396472779 |
873 | A>G | No |
ClinGen TOPMed |
|
|
CA283319777 rs1041206186 |
874 | D>G | No |
ClinGen Ensembl |
|
|
CA283319781 RCV001192625 rs900118000 |
875 | M>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA8130318 rs200911775 |
879 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000425377 CA16608252 rs1057523505 |
883 | D>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA396472965 rs1057523505 |
883 | D>W | No |
ClinGen gnomAD |
5 associated diseases with P12830
[MIM: 137215]: Hereditary diffuse gastric cancer (HDGC)
A cancer predisposition syndrome with increased susceptibility to diffuse gastric cancer. Diffuse gastric cancer is a malignant disease characterized by poorly differentiated infiltrating lesions resulting in thickening of the stomach. Malignant tumors start in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. {ECO:0000269|PubMed:10319582, ECO:0000269|PubMed:12216071}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. Heterozygous CDH1 germline mutations are responsible for familial cases of diffuse gastric cancer. Somatic mutations has also been found in patients with sporadic diffuse gastric cancer and lobular breast cancer.
[MIM: 608089]: Endometrial cancer (ENDMC)
A malignancy of endometrium, the mucous lining of the uterus. Most endometrial cancers are adenocarcinomas, cancers that begin in cells that make and release mucus and other fluids. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
[MIM: 167000]: Ovarian cancer (OC)
The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease. {ECO:0000269|PubMed:8075649}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
[MIM: 137215]: Breast cancer, lobular (LBC)
A type of breast cancer that begins in the milk-producing glands (lobules) of the breast. {ECO:0000269|PubMed:17660459}. Note=The gene represented in this entry may be involved in disease pathogenesis.
[MIM: 119580]: Blepharocheilodontic syndrome 1 (BCDS1)
A form of blepharocheilodontic syndrome, a rare autosomal dominant disorder. It is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and features of ectodermal dysplasia, including hair anomalies, conical teeth and tooth agenesis. An additional rare manifestation is imperforate anus. There is considerable phenotypic variability among affected individuals. {ECO:0000269|PubMed:28301459}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A cancer predisposition syndrome with increased susceptibility to diffuse gastric cancer. Diffuse gastric cancer is a malignant disease characterized by poorly differentiated infiltrating lesions resulting in thickening of the stomach. Malignant tumors start in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. {ECO:0000269|PubMed:10319582, ECO:0000269|PubMed:12216071}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. Heterozygous CDH1 germline mutations are responsible for familial cases of diffuse gastric cancer. Somatic mutations has also been found in patients with sporadic diffuse gastric cancer and lobular breast cancer.
- A malignancy of endometrium, the mucous lining of the uterus. Most endometrial cancers are adenocarcinomas, cancers that begin in cells that make and release mucus and other fluids. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
- The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease. {ECO:0000269|PubMed:8075649}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
- A type of breast cancer that begins in the milk-producing glands (lobules) of the breast. {ECO:0000269|PubMed:17660459}. Note=The gene represented in this entry may be involved in disease pathogenesis.
- A form of blepharocheilodontic syndrome, a rare autosomal dominant disorder. It is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and features of ectodermal dysplasia, including hair anomalies, conical teeth and tooth agenesis. An additional rare manifestation is imperforate anus. There is considerable phenotypic variability among affected individuals. {ECO:0000269|PubMed:28301459}. Note=The disease is caused by variants affecting the gene represented in this entry.
9 regional properties for P12830
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Cadherin, Y-type LIR-motif | 818 - 877 | IPR000233 |
| domain | Cadherin-like | 161 - 262 | IPR002126-1 |
| domain | Cadherin-like | 262 - 386 | IPR002126-2 |
| domain | Cadherin-like | 376 - 486 | IPR002126-3 |
| domain | Cadherin-like | 487 - 595 | IPR002126-4 |
| domain | Cadherin-like | 594 - 702 | IPR002126-5 |
| domain | Cadherin prodomain | 27 - 116 | IPR014868 |
| conserved_site | Cadherin conserved site | 363 - 373 | IPR020894-1 |
| conserved_site | Cadherin conserved site | 583 - 593 | IPR020894-2 |
Functions
19 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| adherens junction | A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules. |
| apical junction complex | A functional unit located near the cell apex at the points of contact between epithelial cells, which in vertebrates is composed of the tight junction, the zonula adherens, and desmosomes and in some invertebrates, such as Drosophila, is composed of the subapical complex (SAC), the zonula adherens and the septate junction. Functions in the regulation of cell polarity, tissue integrity and intercellular adhesion and permeability. |
| catenin complex | Complex of peripheral cytoplasmic proteins (alpha-, beta- and gamma-catenin) that interact with the cytoplasmic region of uvomorulin/E-cadherin to connect it to the actin cytoskeleton. |
| cell junction | A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic side of plasma membrane | The leaflet the plasma membrane that faces the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
| endosome | A vacuole to which materials ingested by endocytosis are delivered. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| flotillin complex | A protein complex that contains flotillin-1 and flotillin-2, and may contain associated proteins. Flotillins associate into membrane microdomains resembling caveolae. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| lamellipodium | A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments. |
| lateral plasma membrane | The portion of the plasma membrane at the lateral side of the cell. In epithelial cells, lateral plasma membranes are on the sides of cells which lie at the interface of adjacent cells. |
| perinuclear region of cytoplasm | Cytoplasm situated near, or occurring around, the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| postsynapse | The part of a synapse that is part of the post-synaptic cell. |
| trans-Golgi network | The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination. |
9 GO annotations of molecular function
| Name | Definition |
|---|---|
| ankyrin binding | Binding to ankyrin, a 200 kDa cytoskeletal protein that attaches other cytoskeletal proteins to integral membrane proteins. |
| beta-catenin binding | Binding to a catenin beta subunit. |
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| calcium ion binding | Binding to a calcium ion (Ca2+). |
| cell adhesion molecule binding | Binding to a cell adhesion molecule. |
| gamma-catenin binding | Binding to catenin complex gamma subunit. |
| GTPase activating protein binding | Binding to a GTPase activating protein. |
| identical protein binding | Binding to an identical protein or proteins. |
| protein tyrosine kinase binding | Binding to protein tyrosine kinase. |
20 GO annotations of biological process
| Name | Definition |
|---|---|
| adherens junction organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an adherens junction. An adherens junction is a cell-cell junction composed of the epithelial cadherin-catenin complex at which the cytoplasmic face of the plasma membrane is attached to actin filaments. |
| cell-cell adhesion | The attachment of one cell to another cell via adhesion molecules. |
| cell-cell adhesion via plasma-membrane adhesion molecules | The attachment of one cell to another cell via adhesion molecules that are at least partially embedded in the plasma membrane. |
| cellular response to indole-3-methanol | 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 an indole-3-methanol stimulus. |
| cellular response to lithium ion | 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 a lithium (Li+) ion stimulus. |
| homophilic cell adhesion via plasma membrane adhesion molecules | The attachment of a plasma membrane adhesion molecule in one cell to an identical molecule in an adjacent cell. |
| negative regulation of axon extension | Any process that stops, prevents, or reduces the frequency, rate or extent of axon outgrowth. |
| negative regulation of cell migration | Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration. |
| negative regulation of cell-cell adhesion | Any process that stops, prevents or reduces the rate or extent of cell adhesion to another cell. |
| neuron projection development | The process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| pituitary gland development | The progression of the pituitary gland over time from its initial formation until its mature state. The pituitary gland is an endocrine gland that secretes hormones that regulate many other glands. |
| positive regulation of DNA-templated transcription | Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription. |
| positive regulation of protein import into nucleus | Any process that activates or increases the frequency, rate or extent of movement of proteins from the cytoplasm into the nucleus. |
| protein localization to plasma membrane | A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. |
| regulation of gene expression | Any process that modulates 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). |
| regulation of protein catabolic process at postsynapse, modulating synaptic transmission | Any process that modulates synaptic transmission by regulating a catabolic process occurring at a postsynapse. |
| response to Gram-positive bacterium | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a Gram-positive bacterium. |
| response to toxic substance | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a toxic stimulus. |
| response to xenobiotic stimulus | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
| synapse assembly | The aggregation, arrangement and bonding together of a set of components to form a synapse. This process ends when the synapse is mature (functional). |
41 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3SWX5 | CDH6 | Cadherin-6 | Bos taurus (Bovine) | PR |
| P79995 | CDH10 | Cadherin-10 | Gallus gallus (Chicken) | PR |
| Q8UVJ7 | CDHR1 | Cadherin-related family member 1 | Gallus gallus (Chicken) | PR |
| Q5DRC8 | PCDHB6 | Protocadherin beta-6 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE4 | PCDHA8 | Protocadherin alpha-8 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE6 | PCDHA6 | Protocadherin alpha-6 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRF0 | PCDHA2 | Protocadherin alpha-2 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE7 | PCDHA5 | Protocadherin alpha-5 | Pan troglodytes (Chimpanzee) | PR |
| Q9VJB6 | CadN2 | Putative neural-cadherin 2 | Drosophila melanogaster (Fruit fly) | PR |
| Q9Y5E3 | PCDHB6 | Protocadherin beta-6 | Homo sapiens (Human) | PR |
| Q9Y5F1 | PCDHB12 | Protocadherin beta-12 | Homo sapiens (Human) | PR |
| O60330 | PCDHGA12 | Protocadherin gamma-A12 | Homo sapiens (Human) | PR |
| Q9P2E7 | PCDH10 | Protocadherin-10 | Homo sapiens (Human) | PR |
| Q9Y5I2 | PCDHA10 | Protocadherin alpha-10 | Homo sapiens (Human) | PR |
| Q9Y5H3 | PCDHGA10 | Protocadherin gamma-A10 | Homo sapiens (Human) | PR |
| Q9UN75 | PCDHA12 | Protocadherin alpha-12 | Homo sapiens (Human) | PR |
| Q9Y5I1 | PCDHA11 | Protocadherin alpha-11 | Homo sapiens (Human) | PR |
| Q9Y5H8 | PCDHA3 | Protocadherin alpha-3 | Homo sapiens (Human) | PR |
| Q9Y5H9 | PCDHA2 | Protocadherin alpha-2 | Homo sapiens (Human) | PR |
| Q9UN73 | PCDHA6 | Protocadherin alpha-6 | Homo sapiens (Human) | PR |
| Q9Y5H6 | PCDHA8 | Protocadherin alpha-8 | Homo sapiens (Human) | PR |
| Q9UN74 | PCDHA4 | Protocadherin alpha-4 | Homo sapiens (Human) | PR |
| Q9UN72 | PCDHA7 | Protocadherin alpha-7 | Homo sapiens (Human) | PR |
| Q9Y5H7 | PCDHA5 | Protocadherin alpha-5 | Homo sapiens (Human) | PR |
| Q9Y5G4 | PCDHGA9 | Protocadherin gamma-A9 | Homo sapiens (Human) | PR |
| Q9Y5G0 | PCDHGB5 | Protocadherin gamma-B5 | Homo sapiens (Human) | PR |
| Q6ZTQ4 | CDHR3 | Cadherin-related family member 3 | Homo sapiens (Human) | PR |
| Q9H159 | CDH19 | Cadherin-19 | Homo sapiens (Human) | PR |
| P19022 | CDH2 | Cadherin-2 | Homo sapiens (Human) | PR |
| Q9ULB4 | CDH9 | Cadherin-9 | Homo sapiens (Human) | PR |
| P55285 | CDH6 | Cadherin-6 | Homo sapiens (Human) | PR |
| Q9Y6N8 | CDH10 | Cadherin-10 | Homo sapiens (Human) | PR |
| P15116 | Cdh2 | Cadherin-2 | Mus musculus (Mouse) | PR |
| P70407 | Cdh9 | Cadherin-9 | Mus musculus (Mouse) | PR |
| P97326 | Cdh6 | Cadherin-6 | Mus musculus (Mouse) | PR |
| P70408 | Cdh10 | Cadherin-10 | Mus musculus (Mouse) | PR |
| Q8VHF2 | Cdhr5 | Cadherin-related family member 5 | Mus musculus (Mouse) | PR |
| P09803 | Cdh1 | Cadherin-1 | Mus musculus (Mouse) | PR |
| P55280 | Cdh6 | Cadherin-6 | Rattus norvegicus (Rat) | PR |
| Q9Z1Y3 | Cdh2 | Cadherin-2 | Rattus norvegicus (Rat) | PR |
| Q767I8 | Pcdha4 | Protocadherin alpha-4 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGPWSRSLSA | LLLLLQVSSW | LCQEPEPCHP | GFDAESYTFT | VPRRHLERGR | VLGRVNFEDC |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TGRQRTAYFS | LDTRFKVGTD | GVITVKRPLR | FHNPQIHFLV | YAWDSTYRKF | STKVTLNTVG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HHHRPPPHQA | SVSGIQAELL | TFPNSSPGLR | RQKRDWVIPP | ISCPENEKGP | FPKNLVQIKS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NKDKEGKVFY | SITGQGADTP | PVGVFIIERE | TGWLKVTEPL | DRERIATYTL | FSHAVSSNGN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| AVEDPMEILI | TVTDQNDNKP | EFTQEVFKGS | VMEGALPGTS | VMEVTATDAD | DDVNTYNAAI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AYTILSQDPE | LPDKNMFTIN | RNTGVISVVT | TGLDRESFPT | YTLVVQAADL | QGEGLSTTAT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AVITVTDTND | NPPIFNPTTY | KGQVPENEAN | VVITTLKVTD | ADAPNTPAWE | AVYTILNDDG |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GQFVVTTNPV | NNDGILKTAK | GLDFEAKQQY | ILHVAVTNVV | PFEVSLTTST | ATVTVDVLDV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| NEAPIFVPPE | KRVEVSEDFG | VGQEITSYTA | QEPDTFMEQK | ITYRIWRDTA | NWLEINPDTG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| AISTRAELDR | EDFEHVKNST | YTALIIATDN | GSPVATGTGT | LLLILSDVND | NAPIPEPRTI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| FFCERNPKPQ | VINIIDADLP | PNTSPFTAEL | THGASANWTI | QYNDPTQESI | ILKPKMALEV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GDYKINLKLM | DNQNKDQVTT | LEVSVCDCEG | AAGVCRKAQP | VEAGLQIPAI | LGILGGILAL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LILILLLLLF | LRRRAVVKEP | LLPPEDDTRD | NVYYYDEEGG | GEEDQDFDLS | QLHRGLDARP |
| 790 | 800 | 810 | 820 | 830 | 840 |
| EVTRNDVAPT | LMSVPRYLPR | PANPDEIGNF | IDENLKAADT | DPTAPPYDSL | LVFDYEGSGS |
| 850 | 860 | 870 | 880 | ||
| EAASLSSLNS | SESDKDQDYD | YLNEWGNRFK | KLADMYGGGE | DD |