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Items: 1 to 100 of 5173

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr17:29554626
GRCh38:
Chr17:31227608
NF1Neurofibromatosis, type 1Pathogenic
(Aug 21, 2020)
criteria provided, single submitterVCV001076968
2.
GRCh37:
ChrX:100626690
GRCh38:
ChrX:101371702
BTKX-linked agammaglobulinemia with growth hormone deficiencyPathogenic
(Aug 20, 2020)
criteria provided, single submitterVCV001076964
3.
GRCh37:
Chr2:167094603
GRCh38:
Chr2:166238093
SCN1A-AS1, SCN9AHereditary sensory and autonomic neuropathy type IIA, Generalized epilepsy with febrile seizures plus, type 7Pathogenic
(Oct 25, 2020)
criteria provided, single submitterVCV001076959
4.
GRCh37:
ChrX:152959783-152959797
GRCh38:
ChrX:153694328-153694342
SLC6A8Creatine transporter deficiencyPathogenic
(May 4, 2020)
criteria provided, single submitterVCV001076955
5.
GRCh37:
Chr11:6638386
GRCh38:
Chr11:6617155
TPP1not providedPathogenic
(Feb 20, 2020)
criteria provided, single submitterVCV001076930
6.
GRCh37:
Chr9:130591965
GRCh38:
Chr9:127829686
ENGHereditary hemorrhagic telangiectasiaPathogenic
(Oct 8, 2020)
criteria provided, single submitterVCV001076907
7.
GRCh37:
Chr6:65707474
GRCh38:
Chr6:64997581
EYSnot providedPathogenic
(Jun 7, 2020)
criteria provided, single submitterVCV001076865
8.
GRCh37:
Chr2:166892557
GRCh38:
Chr2:166036047
SCN1A, LOC102724058Early infantile epileptic encephalopathy with suppression burstsPathogenic
(Jun 6, 2020)
criteria provided, single submitterVCV001076862
9.
GRCh37:
Chr13:32944695
GRCh38:
Chr13:32370558
BRCA2Hereditary breast and ovarian cancer syndromePathogenic
(Feb 20, 2020)
criteria provided, single submitterVCV001076812
10.
GRCh37:
Chr11:108141791-108141792
GRCh38:
Chr11:108271064-108271065
ATMY947*Ataxia-telangiectasia syndromePathogenic
(Sep 28, 2020)
criteria provided, single submitterVCV001076780
11.
GRCh37:
Chr11:108141790-108141791
GRCh38:
Chr11:108271063-108271064
ATMAtaxia-telangiectasia syndromePathogenic
(Mar 8, 2019)
criteria provided, single submitterVCV001076773
12.
GRCh37:
Chr2:110904413
GRCh38:
Chr2:110146836
NPHP1NephronophthisisPathogenic
(Jul 14, 2020)
criteria provided, single submitterVCV001076772
13.
GRCh37:
Chr1:21887588
GRCh38:
Chr1:21561095
ALPLnot providedPathogenic
(Apr 28, 2020)
criteria provided, single submitterVCV001076697
14.
USH2Anot providedPathogenic
(Oct 19, 2020)
criteria provided, single submitterVCV001076632
15.
GRCh37:
Chr12:52307555
GRCh38:
Chr12:51913771
ACVRL1Telangiectasia, hereditary hemorrhagic, type 2Pathogenic
(Feb 28, 2020)
criteria provided, single submitterVCV001076534
16.
GRCh37:
Chr22:46748160
GRCh38:
Chr22:46352263
TRMUnot providedPathogenic
(Oct 7, 2020)
criteria provided, single submitterVCV001076499
17.
GRCh37:
Chr16:57938774-57938775
GRCh38:
Chr16:57904870-57904871
CNGB1I827fs, I833fsnot providedPathogenic
(Oct 14, 2020)
criteria provided, single submitterVCV001076477
18.
GRCh37:
Chr17:41234419
GRCh38:
Chr17:43082402
BRCA1Hereditary breast and ovarian cancer syndromePathogenic
(Sep 7, 2020)
criteria provided, single submitterVCV001076429
19.
GRCh37:
Chr13:49050980
GRCh38:
Chr13:48476844
RB1RetinoblastomaPathogenic
(Aug 16, 2020)
criteria provided, single submitterVCV001076418
20.
GRCh37:
Chr13:49039133
GRCh38:
Chr13:48464997
RB1RetinoblastomaPathogenic
(Aug 16, 2020)
criteria provided, single submitterVCV001076417
21.
GRCh37:
Chr6:129470123
GRCh38:
Chr6:129148978
LAMA2Laminin alpha 2-related dystrophy, not providedPathogenic
(Oct 19, 2020)
criteria provided, single submitterVCV001076380
22.
GRCh37:
Chr15:72640388
GRCh38:
Chr15:72348047
HEXATay-Sachs diseasePathogenic
(Mar 14, 2020)
criteria provided, single submitterVCV001076289
23.
GRCh37:
Chr17:29665041
GRCh38:
Chr17:31338023
NF1Neurofibromatosis, type 1Pathogenic
(Aug 27, 2020)
criteria provided, single submitterVCV001076270
24.
GRCh37:
Chr20:62059717-62059718
GRCh38:
Chr20:63428364-63428365
KCNQ2Early infantile epileptic encephalopathy with suppression burstsPathogenic
(Feb 6, 2020)
criteria provided, single submitterVCV001076179
25.
GRCh37:
Chr5:13781069
GRCh38:
Chr5:13780960
DNAH5Primary ciliary dyskinesiaPathogenic
(Mar 21, 2018)
criteria provided, single submitterVCV001076155
26.
GRCh37:
Chr17:29653271
GRCh38:
Chr17:31326253
NF1Neurofibromatosis, type 1Pathogenic
(Oct 14, 2020)
criteria provided, single submitterVCV001076120
27.
GRCh37:
Chr6:7565754
GRCh38:
Chr6:7565521
DSPDilated cardiomyopathy with woolly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8Pathogenic
(Jun 24, 2020)
criteria provided, single submitterVCV001076116
28.
GRCh37:
ChrX:85212859
GRCh38:
ChrX:85957854
CHMnot providedPathogenic
(Oct 14, 2020)
criteria provided, single submitterVCV001076025
29.
GRCh37:
Chr16:89816137
GRCh38:
Chr16:89749729
FANCAFanconi anemiaPathogenic
(Sep 24, 2020)
criteria provided, single submitterVCV001076022
30.
GRCh37:
Chr17:29554539
GRCh38:
Chr17:31227521
NF1Neurofibromatosis, type 1Pathogenic
(Sep 23, 2020)
criteria provided, single submitterVCV001076019
31.
GRCh37:
Chr7:21727147
GRCh38:
Chr7:21687529
DNAH11Primary ciliary dyskinesiaPathogenic
(Oct 27, 2020)
criteria provided, single submitterVCV001076012
32.
GRCh37:
ChrX:85156195
GRCh38:
ChrX:85901190
CHMnot providedPathogenic
(Oct 8, 2020)
criteria provided, single submitterVCV001075987
33.
GRCh37:
ChrX:107816803
GRCh38:
ChrX:108573573
COL4A5not providedPathogenic
(Apr 11, 2020)
criteria provided, single submitterVCV001075983
34.
GRCh37:
Chr3:9516267
GRCh38:
Chr3:9474583
SETD5not providedPathogenic
(Apr 10, 2020)
criteria provided, single submitterVCV001075980
35.
GRCh37:
Chr13:49033970
GRCh38:
Chr13:48459834
RB1RetinoblastomaPathogenic
(Feb 21, 2020)
criteria provided, single submitterVCV001075814
36.
GRCh37:
Chr2:152547340
GRCh38:
Chr2:151690826
NEBNemaline myopathy 2Pathogenic
(Sep 25, 2020)
criteria provided, single submitterVCV001075799
37.
GRCh37:
Chr2:238268032
GRCh38:
Chr2:237359389
LOC122889011, COL6A3Bethlem myopathy 1Pathogenic
(Jan 15, 2020)
criteria provided, single submitterVCV001075768
38.
GRCh37:
Chr17:41242955-41242959
GRCh38:
Chr17:43090938-43090942
BRCA1Hereditary breast and ovarian cancer syndromePathogenic
(Dec 10, 2018)
criteria provided, single submitterVCV001075752
39.
ATMAtaxia-telangiectasia syndromePathogenic
(Oct 19, 2020)
criteria provided, single submitterVCV001075720
40.
GRCh37:
Chr17:29557945
GRCh38:
Chr17:31230927
NF1Neurofibromatosis, type 1Pathogenic
(Oct 19, 2020)
criteria provided, single submitterVCV001075712
41.
GRCh37:
Chr19:1218415
GRCh38:
Chr19:1218416
STK11Peutz-Jeghers syndromePathogenic
(Jun 16, 2020)
criteria provided, single submitterVCV001075652
42.
GRCh37:
Chr7:107330568
GRCh38:
Chr7:107690123
SLC26A4not providedPathogenic
(Sep 7, 2020)
criteria provided, single submitterVCV001075641
43.
GRCh37:
Chr19:7616247
GRCh38:
Chr19:7551361
PNPLA6Hereditary spastic paraplegia 39Pathogenic
(May 31, 2018)
criteria provided, single submitterVCV001075623
44.
GRCh37:
Chr6:129663486
GRCh38:
Chr6:129342341
LAMA2Laminin alpha 2-related dystrophyPathogenic
(Aug 27, 2020)
criteria provided, single submitterVCV001075606
45.
GRCh37:
ChrX:99661448
GRCh38:
ChrX:100406450
PCDH19Early infantile epileptic encephalopathy 9Pathogenic
(May 15, 2020)
criteria provided, single submitterVCV001075577
46.
GRCh37:
Chr2:109522825
GRCh38:
Chr2:108906369
EDARAutosomal recessive hypohidrotic ectodermal dysplasia syndrome, Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominantPathogenic
(Oct 12, 2020)
criteria provided, single submitterVCV001075576
47.
GRCh37:
ChrX:85211157
GRCh38:
ChrX:85956152
CHMChoroideremia, not providedPathogenic
(Jun 2, 2021)
criteria provided, multiple submitters, no conflictsVCV001075553
48.
GRCh37:
ChrX:100617548
GRCh38:
ChrX:101362560
BTKX-linked agammaglobulinemia with growth hormone deficiencyPathogenic
(Mar 11, 2020)
criteria provided, single submitterVCV001075549
49.
GRCh37:
Chr17:56293448
GRCh38:
Chr17:58216087
MKS1Joubert syndrome, Meckel-Gruber syndromePathogenic
(Sep 12, 2020)
criteria provided, single submitterVCV001075466
50.
GRCh37:
Chr19:50364954
GRCh38:
Chr19:49861697
PNKPEarly infantile epileptic encephalopathy 12Pathogenic
(May 4, 2020)
criteria provided, single submitterVCV001075417
51.
GRCh37:
ChrX:22132575
GRCh38:
ChrX:22114457
PHEXnot providedPathogenic
(Jan 10, 2020)
criteria provided, single submitterVCV001075411
52.
GRCh37:
ChrX:22129679
GRCh38:
ChrX:22111561
PHEXnot providedPathogenic
(Mar 20, 2020)
criteria provided, single submitterVCV001075410
53.
GRCh37:
Chr5:60186715
GRCh38:
Chr5:60890888
ERCC8not providedPathogenic
(Jul 20, 2020)
criteria provided, single submitterVCV001075397
54.
GRCh37:
Chr9:130587637
GRCh38:
Chr9:127825358
ENGHereditary hemorrhagic telangiectasiaPathogenic
(Oct 8, 2020)
criteria provided, single submitterVCV001075363
55.
GRCh37:
Chr9:98212224
GRCh38:
Chr9:95449942
PTCH1Gorlin syndromePathogenic
(Sep 16, 2020)
criteria provided, single submitterVCV001075362
56.
GRCh37:
Chr17:7579297-7579310
GRCh38:
Chr17:7675979-7675992
TP53Li-Fraumeni syndromePathogenic
(Mar 27, 2020)
criteria provided, single submitterVCV001075308
57.
GRCh37:
Chr1:156107025
GRCh38:
Chr1:156137234
LMNACharcot-Marie-Tooth disease, type 2Pathogenic
(Oct 8, 2020)
criteria provided, single submitterVCV001075208
58.
GRCh37:
Chr13:48939029
GRCh38:
Chr13:48364893
RB1RetinoblastomaPathogenic
(Aug 2, 2020)
criteria provided, single submitterVCV001075188
59.
GRCh37:
Chr6:33393573
GRCh38:
Chr6:33425796
SYNGAP1Mental retardation, autosomal dominant 5Pathogenic
(Aug 20, 2020)
criteria provided, single submitterVCV001075175
60.
GRCh37:
ChrX:100658797
GRCh38:
ChrX:101403809
GLA, RPL36A-HNRNPH2Fabry diseasePathogenic
(Jun 15, 2020)
criteria provided, single submitterVCV001075172
61.
GRCh37:
ChrX:70328547
GRCh38:
ChrX:71108697
IL2RGX-linked severe combined immunodeficiencyPathogenic
(Oct 3, 2020)
criteria provided, single submitterVCV001075157
62.
GRCh37:
Chr17:29653272
GRCh38:
Chr17:31326254
NF1Neurofibromatosis, type 1Pathogenic
(Mar 26, 2020)
criteria provided, single submitterVCV001075148
63.
GRCh37:
Chr17:29508727
GRCh38:
Chr17:31181709
NF1Neurofibromatosis, type 1Pathogenic
(Jun 26, 2020)
criteria provided, single submitterVCV001075101
64.
GRCh37:
Chr16:88713248
GRCh38:
Chr16:88646840
CYBAGranulomatous disease, chronic, autosomal recessive, cytochrome b-negativePathogenic
(Sep 13, 2020)
criteria provided, single submitterVCV001075039
65.
GRCh37:
Chr17:56801400
GRCh38:
Chr17:58724039
RAD51CFanconi anemia, complementation group OPathogenic
(Jul 31, 2020)
criteria provided, single submitterVCV001075016
66.
GRCh37:
Chr9:98242250
GRCh38:
Chr9:95479968
PTCH1Gorlin syndromePathogenic
(May 6, 2020)
criteria provided, single submitterVCV001075009
67.
GRCh37:
Chr16:89869666
GRCh38:
Chr16:89803258
FANCAFanconi anemiaPathogenic
(May 29, 2020)
criteria provided, single submitterVCV001074963
68.
GRCh37:
Chr11:61726969
GRCh38:
Chr11:61959497
BEST1not providedPathogenic
(Oct 27, 2020)
criteria provided, single submitterVCV001074923
69.
GRCh37:
Chr19:17952197
GRCh38:
Chr19:17841388
JAK3Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negativePathogenic
(Aug 10, 2020)
criteria provided, single submitterVCV001074842
70.
GRCh37:
Chr9:130579484
GRCh38:
Chr9:127817205
ENG, LOC102723566Hereditary hemorrhagic telangiectasiaPathogenic
(Jun 16, 2020)
criteria provided, single submitterVCV001074831
71.
GRCh37:
Chr2:169820715
GRCh38:
Chr2:168964205
ABCB11not providedPathogenic
(Sep 17, 2020)
criteria provided, single submitterVCV001074827
72.
GRCh37:
ChrX:22065167
GRCh38:
ChrX:22047049
PHEXnot providedPathogenic
(Jul 1, 2020)
criteria provided, single submitterVCV001074744
73.
GRCh37:
Chr12:88480276
GRCh38:
Chr12:88086499
CEP290Joubert syndrome, Nephronophthisis, Meckel-Gruber syndrome
Pathogenic
(Jun 30, 2020)
criteria provided, single submitterVCV001074738
74.
GRCh37:
Chr2:26461800-26461802
GRCh38:
Chr2:26238932-26238934
HADHALong-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiencyPathogenic
(Feb 4, 2020)
criteria provided, single submitterVCV001074728
75.
GRCh37:
Chr17:73831989
GRCh38:
Chr17:75835908
UNC13DFamilial hemophagocytic lymphohistiocytosis 3Pathogenic
(May 27, 2020)
criteria provided, single submitterVCV001074707
76.
GRCh37:
Chr17:29548866
GRCh38:
Chr17:31221848
NF1Neurofibromatosis, type 1Pathogenic
(Oct 1, 2020)
criteria provided, single submitterVCV001074691
77.
GRCh37:
Chr3:48611694
GRCh38:
Chr3:48574261
COL7A1not providedPathogenic
(Jul 20, 2020)
criteria provided, single submitterVCV001074690
78.
GRCh37:
Chr8:145740708
GRCh38:
Chr8:144515324
RECQL4Baller-Gerold syndromePathogenic
(Aug 5, 2020)
criteria provided, single submitterVCV001074685
79.
GRCh37:
Chr9:130588788
GRCh38:
Chr9:127826509
ENGHereditary hemorrhagic telangiectasiaPathogenic
(May 3, 2020)
criteria provided, single submitterVCV001074610
80.
GRCh37:
Chr2:47643433
GRCh38:
Chr2:47416294
MSH2Hereditary nonpolyposis colorectal neoplasmsPathogenic
(Apr 21, 2020)
criteria provided, single submitterVCV001074529
81.
GRCh37:
Chr7:107323984
GRCh38:
Chr7:107683539
SLC26A4not providedPathogenic
(Feb 27, 2020)
criteria provided, single submitterVCV001074515
82.
GRCh37:
Chr11:76869477
GRCh38:
Chr11:77158431
MYO7Anot providedPathogenic
(Mar 3, 2020)
criteria provided, single submitterVCV001074479
83.
GRCh37:
Chr11:76868440
GRCh38:
Chr11:77157394
MYO7Anot providedPathogenic
(Jun 23, 2020)
criteria provided, single submitterVCV001074478
84.
GRCh37:
Chr17:29679433
GRCh38:
Chr17:31352415
NF1Neurofibromatosis, type 1, not providedPathogenic
(Aug 26, 2020)
criteria provided, single submitterVCV001074474
85.
GRCh37:
Chr12:49418730
GRCh38:
Chr12:49024947
KMT2DKabuki syndromePathogenic
(Mar 17, 2020)
criteria provided, single submitterVCV001074470
86.
GRCh37:
Chr17:48275308
GRCh38:
Chr17:50197947
COL1A1Osteogenesis imperfecta type IPathogenic
(Apr 20, 2020)
criteria provided, single submitterVCV001074370
87.
GRCh37:
Chr2:71780320
GRCh38:
Chr2:71553190
DYSFQualitative or quantitative defects of dysferlinPathogenic
(Apr 20, 2020)
criteria provided, single submitterVCV001074366
88.
GRCh37:
Chr5:37014868
GRCh38:
Chr5:37014766
NIPBLCornelia de Lange syndrome 1Pathogenic
(Feb 27, 2020)
criteria provided, single submitterVCV001074354
89.
GRCh37:
ChrX:37641339
GRCh38:
ChrX:37782086
CYBBChronic granulomatous disease, X-linkedPathogenic
(Feb 27, 2020)
criteria provided, single submitterVCV001074351
90.
GRCh37:
Chr16:2108876
GRCh38:
Chr16:2058875
TSC2Tuberous sclerosis 2Pathogenic
(Feb 27, 2020)
criteria provided, single submitterVCV001074350
91.
GRCh37:
ChrX:135736590
GRCh38:
ChrX:136654431
CD40LGHyper-IgM syndrome type 1Pathogenic
(Feb 27, 2020)
criteria provided, single submitterVCV001074317
92.
GRCh37:
Chr17:48271709
GRCh38:
Chr17:50194348
COL1A1Postmenopausal osteoporosis, Osteogenesis imperfecta type IPathogenic
(Jun 14, 2021)
criteria provided, multiple submitters, no conflictsVCV001074312
93.
GRCh37:
ChrX:32632419
GRCh38:
ChrX:32614302
DMDDuchenne muscular dystrophyPathogenic
(Oct 14, 2020)
criteria provided, single submitterVCV001074270
94.
GRCh37:
Chr1:216462753
GRCh38:
Chr1:216289411
USH2Anot providedPathogenic
(Oct 19, 2020)
criteria provided, single submitterVCV001074239
95.
GRCh37:
Chr1:209806479
GRCh38:
Chr1:209633134
LAMB3not providedPathogenic
(Sep 25, 2020)
criteria provided, single submitterVCV001074201
96.
GRCh37:
Chr16:57954450
GRCh38:
Chr16:57920546
CNGB1not providedPathogenic
(Sep 30, 2020)
criteria provided, single submitterVCV001074156
97.
GRCh37:
ChrX:128694526
GRCh38:
ChrX:129560549
OCRLLowe syndromePathogenic
(Aug 20, 2020)
criteria provided, single submitterVCV001074139
98.
GRCh37:
Chr17:29663350
GRCh38:
Chr17:31336332
NF1Neurofibromatosis, type 1Pathogenic
(Jun 4, 2020)
criteria provided, single submitterVCV001074136
99.
GRCh37:
Chr10:100185743
GRCh38:
Chr10:98425986
HPS1not providedPathogenic/Likely pathogenic
(Apr 23, 2021)
criteria provided, multiple submitters, no conflictsVCV001074133
100.
GRCh37:
Chr11:118960899
GRCh38:
Chr11:119090189
HMBSnot providedPathogenic
(Jun 18, 2020)
criteria provided, single submitterVCV001074125
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