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Items: 1 to 100 of 23909

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr2:48032801
Chr2:48033420
GRCh38:
Chr2:47805662
Chr2:47806281
MSH6, MSH6L1201V, L1071V, L899V, R1242S, R1112S, R940SLynch syndromeLikely pathogenic
(Jun 7, 2021)
criteria provided, single submitterVCV001172512
2.
GRCh37:
Chr22:36662034
Chr22:36661906
GRCh38:
Chr22:36265988
Chr22:36265860
APOL1, APOL1I400M, I384M, I366M, S358G, S342G, S324GHyalinosis, Segmental Glomerularrisk factor
(Mar 4, 2020)
criteria provided, single submitterVCV001120175
3.
GRCh37:
Chr17:18025699
GRCh38:
Chr17:18122385
MYO15Anot specifiedLikely benign
(Aug 17, 2020)
criteria provided, single submitterVCV001120143
4.
GRCh37:
Chr22:36680210
GRCh38:
Chr22:36284164
MYH9not specifiedLikely benign
(Aug 23, 2017)
criteria provided, single submitterVCV001120142
5.
GRCh37:
Chr3:45583406
GRCh38:
Chr3:45541914
LARS2not specifiedLikely benign
(Nov 24, 2014)
criteria provided, single submitterVCV001120141
6.
GRCh37:
Chr16:75661845
GRCh38:
Chr16:75627947
KARS1N425T, N581T, N609Tnot specifiedLikely benign
(Jun 2, 2020)
criteria provided, single submitterVCV001120140
7.
GRCh37:
Chr5:118810139
GRCh38:
Chr5:119474444
HSD17B4not specifiedLikely benign
(Aug 23, 2017)
criteria provided, single submitterVCV001120139
8.
GRCh37:
Chr6:133846244
GRCh38:
Chr6:133525106
EYA4, TARIDnot specifiedLikely benign
(Aug 23, 2017)
criteria provided, single submitterVCV001120138
9.
GRCh37:
Chr1:6520143
GRCh38:
Chr1:6460083
ESPNnot specifiedLikely benign
(Nov 4, 2020)
criteria provided, single submitterVCV001120137
10.
GRCh37:
Chr10:75871870
GRCh38:
Chr10:74112112
VCLnot specifiedUncertain significance
(Dec 3, 2020)
criteria provided, single submitterVCV001120136
11.
GRCh37:
Chr17:72916450
GRCh38:
Chr17:74920355
USH1GM161L, M58Lnot specifiedUncertain significance
(Sep 4, 2020)
criteria provided, single submitterVCV001120135
12.
GRCh37:
Chr17:72915752
GRCh38:
Chr17:74919657
USH1GE290D, E393Dnot specifiedUncertain significance
(Nov 4, 2020)
criteria provided, single submitterVCV001120134
13.
GRCh37:
Chr16:15761189
GRCh38:
Chr16:15667332
NDE1R44*not specifiedUncertain significance
(Jun 8, 2020)
criteria provided, single submitterVCV001120133
14.
GRCh37:
Chr11:76910663
GRCh38:
Chr11:77199618
MYO7AA1551Vnot specifiedUncertain significance
(May 7, 2020)
criteria provided, single submitterVCV001120132
15.
GRCh37:
Chr11:76867967
GRCh38:
Chr11:77156921
MYO7AD207H, D218Hnot specifiedUncertain significance
(Nov 4, 2020)
criteria provided, single submitterVCV001120131
16.
GRCh37:
Chr10:26241210-26241211
GRCh38:
Chr10:25952281-25952282
MYO3Anot specifiedUncertain significance
(Aug 14, 2020)
criteria provided, single submitterVCV001120130
17.
GRCh37:
Chr17:18036680
GRCh38:
Chr17:18133366
MYO15AV1488Inot specifiedUncertain significance
(Aug 13, 2020)
criteria provided, single submitterVCV001120129
18.
GRCh37:
Chr22:36681801
GRCh38:
Chr22:36285755
MYH9R1726Hnot specifiedUncertain significance
(Mar 29, 2021)
criteria provided, single submitterVCV001120128
19.
GRCh37:
Chr18:44057541
GRCh38:
Chr18:46477578
LOXHD1V2177A, V2239A, V478Anot specifiedUncertain significance
(Jun 1, 2020)
criteria provided, single submitterVCV001120127
20.
GRCh37:
Chr5:90107087
GRCh38:
Chr5:90811270
ADGRV1G5337Enot specifiedUncertain significance
(Aug 17, 2020)
criteria provided, single submitterVCV001120126
21.
GRCh37:
Chr5:90016874
GRCh38:
Chr5:90721057
ADGRV1M3249Tnot specifiedUncertain significance
(Aug 13, 2020)
criteria provided, single submitterVCV001120125
22.
GRCh37:
Chr5:89938497
GRCh38:
Chr5:90642680
ADGRV1R762Hnot specifiedUncertain significance
(Jun 4, 2020)
criteria provided, single submitterVCV001120124
23.
GRCh37:
Chr4:5709992-5710019
GRCh38:
Chr4:5708265-5708292
EVC2Ellis-van Creveld syndromeLikely pathogenic
(Jun 9, 2020)
criteria provided, single submitterVCV001120123
24.
GRCh37:
Chr18:44118169
GRCh38:
Chr18:46538206
LOXHD1E1349*, E142*, E238*Rare genetic deafnessLikely pathogenic
(Aug 13, 2020)
criteria provided, single submitterVCV001120122
25.
GRCh37:
Chr11:17632353
GRCh38:
Chr11:17610806
OTOGQ1836*, Q1848*Nonsyndromic hearing loss and deafnessLikely pathogenic
(May 1, 2020)
criteria provided, single submitterVCV001120121
26.
GRCh37:
Chr19:54684653-54684654
GRCh38:
Chr19:54180936-54180937
MBOAT7L158fs, L231fsMental retardation, autosomal recessive 57Likely pathogenic
(Jun 5, 2020)
criteria provided, single submitterVCV001120120
27.
GRCh37:
Chr2:44053544
GRCh38:
Chr2:43826405
DYNC2LI1, ABCG5Q251*SitosterolemiaPathogenic
(Jun 25, 2020)
criteria provided, single submitterVCV001120119
28.
GRCh37:
Chr15:45391681
GRCh38:
Chr15:45099483
DUOX2Congenital hypothyroidismLikely pathogenic
(Jun 25, 2020)
criteria provided, single submitterVCV001120118
29.
GRCh37:
Chr5:37226711-37226712
GRCh38:
Chr5:37226609-37226610
CPLANE1L663fsJoubert syndromeLikely pathogenic
(Jul 7, 2020)
criteria provided, single submitterVCV001120117
30.
GRCh37:
Chr21:46899999-46900000
GRCh38:
Chr21:45480085-45480086
COL18A1G446fs, G626fs, G861fsKnobloch syndrome 1Likely pathogenic
(Jun 19, 2020)
criteria provided, single submitterVCV001120116
31.
GRCh37:
Chr20:31021568
GRCh38:
Chr20:32433765
ASXL1K462*, K523*Bohring-Opitz syndromeLikely pathogenic
(Jul 3, 2020)
criteria provided, single submitterVCV001120115
32.
GRCh37:
Chr19:6361624
GRCh38:
Chr19:6361613
CLPPnot specifiedLikely benign
(Aug 23, 2017)
criteria provided, single submitterVCV001120114
33.
GRCh37:
Chr1:100818541
GRCh38:
Chr1:100352985
CDC14AA11Tnot specifiedLikely benign
(May 7, 2020)
criteria provided, single submitterVCV001120113
34.
GRCh37:
Chr2:73675713
GRCh38:
Chr2:73448586
ALMS1H687Y, H688Ynot specifiedLikely benign
(Sep 16, 2020)
criteria provided, single submitterVCV001120112
35.
GRCh37:
Chr5:90119366
GRCh38:
Chr5:90823549
ADGRV1M5441Vnot specifiedLikely benign
(Sep 4, 2020)
criteria provided, single submitterVCV001120111
36.
GRCh37:
Chr15:43910867-43910869
GRCh38:
Chr15:43618669-43618671
STRCL18delnot specified, not providedBenign
(May 18, 2020)
criteria provided, multiple submitters, no conflictsVCV001120110
37.
GRCh37:
Chr22:38155195
GRCh38:
Chr22:37759188
TRIOBPR2083H, R370Hnot specifiedUncertain significance
(Jun 1, 2020)
criteria provided, single submitterVCV001120109
38.
GRCh37:
Chr22:38153720
GRCh38:
Chr22:37757713
TRIOBPR1930W, R217Wnot specifiedUncertain significance
(Jan 14, 2021)
criteria provided, single submitterVCV001120108
39.
GRCh37:
Chr9:75445429
GRCh38:
Chr9:72830513
TMC1K731Rnot specifiedUncertain significance
(Jun 2, 2020)
criteria provided, single submitterVCV001120107
40.
GRCh37:
Chr11:121028895
GRCh38:
Chr11:121158186
TECTA, TBCEL-TECTAE1551K, E1870Knot specifiedUncertain significance
(Jun 17, 2020)
criteria provided, single submitterVCV001120106
41.
GRCh37:
Chr11:121008183
GRCh38:
Chr11:121137474
TECTA, TBCEL-TECTAT1318A, T999Anot specifiedUncertain significance
(Nov 10, 2020)
criteria provided, single submitterVCV001120105
42.
GRCh37:
Chr6:112476859
GRCh38:
Chr6:112155657
LAMA4A616T, A623Tnot specifiedUncertain significance
(Aug 18, 2020)
criteria provided, single submitterVCV001120104
43.
GRCh37:
Chr21:35821713
GRCh38:
Chr21:34449415
KCNE1S74Pnot specified, not providedUncertain significance
(Jun 10, 2020)
criteria provided, multiple submitters, no conflictsVCV001120103
44.
GRCh37:
Chr6:76715232
GRCh38:
Chr6:76005515
IMPG1Q225*, Q303*not specifiedUncertain significance
(Jun 16, 2020)
criteria provided, single submitterVCV001120102
45.
GRCh37:
Chr6:76660308
GRCh38:
Chr6:75950591
IMPG1R521*, R599*not specifiedUncertain significance
(Jun 16, 2020)
criteria provided, single submitterVCV001120101
46.
GRCh37:
Chr7:27142070
GRCh38:
Chr7:27102451
HOXA2S17*not specifiedUncertain significance
(Jul 2, 2020)
criteria provided, single submitterVCV001120100
47.
GRCh37:
Chr12:121416816
GRCh38:
Chr12:120979013
HNF1AT82Mnot specifiedUncertain significance
(Oct 26, 2020)
criteria provided, single submitterVCV001120099
48.
GRCh37:
Chr7:81346610
GRCh38:
Chr7:81717294
HGFH443R, H448Rnot specifiedUncertain significance
(Jul 10, 2020)
criteria provided, single submitterVCV001120098
49.
GRCh37:
Chr10:97440335-97440345
GRCh38:
Chr10:95680578-95680588
TCTN3C344fs, C492fsnot specifiedUncertain significance
(Jun 8, 2020)
criteria provided, single submitterVCV001120097
50.
GRCh37:
Chr15:43905415
GRCh38:
Chr15:43613217
STRCR832Qnot specifiedUncertain significance
(Sep 10, 2020)
criteria provided, single submitterVCV001120096
51.
GRCh37:
Chr7:107301160
GRCh38:
Chr7:107660715
SLC26A4, SLC26A4-AS1not specifiedUncertain significance
(Mar 31, 2021)
criteria provided, single submitterVCV001120095
52.
GRCh37:
Chr1:3313055-3313157
PRDM16not specifiedUncertain significance
(Dec 3, 2020)
criteria provided, single submitterVCV001120094
53.
GRCh37:
Chr2:179320807
GRCh38:
Chr2:178456080
PJVKM160V, M163V, M195V, M1Vnot specifiedUncertain significance
(Nov 20, 2020)
criteria provided, single submitterVCV001120093
54.
GRCh37:
Chr2:179318137
GRCh38:
Chr2:178453410
PJVKM1Vnot specifiedUncertain significance
(Jun 1, 2020)
criteria provided, single submitterVCV001120092
55.
GRCh37:
ChrX:107840270
GRCh38:
ChrX:108597040
COL4A5A520Vnot specifiedUncertain significance
(Jul 10, 2020)
criteria provided, single submitterVCV001120091
56.
GRCh37:
Chr2:228157947
GRCh38:
Chr2:227293231
COL4A3, MFF-DTE1084Vnot specifiedUncertain significance
(May 27, 2020)
criteria provided, single submitterVCV001120090
57.
GRCh37:
Chr6:33140393
GRCh38:
Chr6:33172616
COL11A2P831S, P852S, P938Snot specifiedUncertain significance
(Nov 20, 2020)
criteria provided, single submitterVCV001120089
58.
GRCh37:
Chr9:134390892
GRCh38:
Chr9:131515505
POMT1Q267*, Q289*, Q302*, Q324*, Q365*, Q387*, Q389*, Q415*, Q419*, Q441*Walker-Warburg congenital muscular dystrophyPathogenic
(Jun 25, 2020)
criteria provided, single submitterVCV001120088
59.
GRCh37:
Chr15:43910158
GRCh38:
Chr15:43617960
STRCP154fsRare genetic deafnessPathogenic
(Dec 15, 2020)
criteria provided, single submitterVCV001120087
60.
GRCh37:
Chr15:43906209
GRCh38:
Chr15:43614011
STRCL786fsRare genetic deafnessPathogenic
(Dec 15, 2020)
criteria provided, single submitterVCV001120086
61.
GRCh37:
Chr12:53817761
GRCh38:
Chr12:53423977
AMHR2V15fsPersistent Mullerian duct syndromeLikely pathogenic
(Jun 11, 2020)
criteria provided, single submitterVCV001120085
62.
GRCh37:
Chr2:73675311-73675312
GRCh38:
Chr2:73448184-73448185
ALMS1K553fs, K554fsAlstrom syndromeLikely pathogenic
(Jun 9, 2020)
criteria provided, single submitterVCV001120084
63.
GRCh37:
Chr2:178333182-178333188
GRCh38:
Chr2:177468454-177468460
AGPSE346fsRhizomelic chondrodysplasia punctata type 3Likely pathogenic
(Apr 20, 2020)
criteria provided, single submitterVCV001120083
64.
GRCh37:
Chr1:100366268
GRCh38:
Chr1:99900712
AGLR1131*, R1147*Glycogen storage disease type IIILikely pathogenic
(Jun 25, 2020)
criteria provided, single submitterVCV001120082
65.
GRCh37:
Chr1:150529232
GRCh38:
Chr1:150556756
ADAMTSL4S571*, S594*Isolated ectopia lentisLikely pathogenic
(Jun 26, 2020)
criteria provided, single submitterVCV001120081
66.
GRCh37:
Chr16:23224022
GRCh38:
Chr16:23212701
SCNN1GR440*Autosomal recessive pseudohypoaldosteronism type 1Likely pathogenic
(Jun 19, 2020)
criteria provided, single submitterVCV001120080
67.
GRCh37:
Chr14:92471238
GRCh38:
Chr14:92004894
TRIP11R1027*, R1028*Achondrogenesis, type IALikely pathogenic
(Jun 25, 2020)
criteria provided, single submitterVCV001120079
68.
GRCh37:
Chr4:6303550
GRCh38:
Chr4:6301823
WFS1not specified, not providedLikely benign
(Jan 26, 2021)
criteria provided, multiple submitters, no conflictsVCV001120078
69.
GRCh37:
Chr4:6293093
GRCh38:
Chr4:6291366
WFS1not specifiedLikely benign
(Jun 4, 2020)
criteria provided, single submitterVCV001120077
70.
GRCh37:
Chr13:86369981
GRCh38:
Chr13:85795846
SLITRK6not specifiedLikely benign
(Aug 23, 2017)
criteria provided, single submitterVCV001120076
71.
GRCh37:
Chr13:86369875
GRCh38:
Chr13:85795740
SLITRK6I257Vnot specifiedLikely benign
(Sep 16, 2020)
criteria provided, single submitterVCV001120075
72.
GRCh37:
Chr1:24658063
GRCh38:
Chr1:24331573
GRHL3D55E, D60E, D9Enot specified, not provided, Van der Woude syndrome 2
Benign
(Feb 8, 2021)
criteria provided, multiple submitters, no conflictsVCV001120074
73.
GRCh37:
Chr16:88804135
GRCh38:
Chr16:88737727
PIEZO1, LOC100289580not specifiedUncertain significance
(Jun 25, 2020)
criteria provided, single submitterVCV001120073
74.
GRCh37:
Chr10:55626540
GRCh38:
Chr10:53866780
PCDH15E1122D, E1156D, E1171D, E1193D, E1198D, E1200D, E1205Dnot specifiedUncertain significance
(Jun 1, 2020)
criteria provided, single submitterVCV001120072
75.
GRCh37:
Chr11:17574948
GRCh38:
Chr11:17553401
OTOGR141Q, R153Qnot specifiedUncertain significance
(Nov 10, 2020)
criteria provided, single submitterVCV001120071
76.
GRCh37:
Chr10:73447425
GRCh38:
Chr10:71687668
CDH23T670Snot specifiedUncertain significance
(Jun 4, 2020)
criteria provided, single submitterVCV001120070
77.
GRCh37:
Chr10:73377176
GRCh38:
Chr10:71617419
CDH23C387Ynot specifiedUncertain significance
(Jul 10, 2020)
criteria provided, single submitterVCV001120069
78.
GRCh37:
Chr3:53766050
GRCh38:
Chr3:53732023
CACNA1DI805T, I825Tnot specified, not providedUncertain significance
(Feb 15, 2021)
criteria provided, multiple submitters, no conflictsVCV001120068
79.
GRCh37:
Chr3:53531185
GRCh38:
Chr3:53497158
CACNA1DN25Snot specifiedUncertain significance
(Jun 4, 2020)
criteria provided, single submitterVCV001120067
80.
GRCh37:
Chr11:67286614
GRCh38:
Chr11:67519143
CABP2R220Q, R226Qnot specifiedUncertain significance
(Sep 4, 2020)
criteria provided, single submitterVCV001120066
81.
GRCh37:
Chr2:219525903
GRCh38:
Chr2:218661180
BCS1LS65Rnot specifiedUncertain significance
(Jan 5, 2021)
criteria provided, single submitterVCV001120065
82.
GRCh37:
Chr2:71188135
GRCh38:
Chr2:70961005
ATP6V1B1V224Inot specifiedUncertain significance
(Jul 10, 2020)
criteria provided, single submitterVCV001120064
83.
GRCh37:
Chr1:216011333-216040512
USH2AUsher syndromeLikely pathogenic
(Jun 19, 2020)
criteria provided, single submitterVCV001120063
84.
GRCh37:
Chr9:91934713
GRCh38:
Chr9:89319798
SECISBP2Thyroid hormone metabolism, abnormalLikely pathogenic
(Jun 19, 2020)
criteria provided, single submitterVCV001120062
85.
GRCh37:
Chr12:80717502
GRCh38:
Chr12:80323722
OTOGLRare genetic deafnessLikely pathogenic
(Jun 25, 2020)
criteria provided, single submitterVCV001120061
86.
GRCh37:
Chr12:80696518
GRCh38:
Chr12:80302738
OTOGLW1011*, W1056*Rare genetic deafnessLikely pathogenic
(Jun 16, 2020)
criteria provided, single submitterVCV001120060
87.
GRCh37:
Chr17:18035812
GRCh38:
Chr17:18132498
MYO15AG1418RRare genetic deafness, not providedLikely pathogenic
(Dec 9, 2020)
criteria provided, multiple submitters, no conflictsVCV001120059
88.
GRCh37:
Chr6:2948571
GRCh38:
Chr6:2948337
SERPINB6not specifiedLikely benign
(Apr 30, 2012)
criteria provided, single submitterVCV001120058
89.
GRCh37:
Chr19:10334909
GRCh38:
Chr19:10224233
S1PR2A225Tnot specifiedLikely benign
(Nov 25, 2020)
criteria provided, single submitterVCV001120057
90.
GRCh37:
ChrX:82763581
GRCh38:
ChrX:83508573
POU3F4not specifiedLikely benign
(Apr 30, 2012)
criteria provided, single submitterVCV001120056
91.
GRCh37:
Chr12:80660277
GRCh38:
Chr12:80266497
OTOGLnot specifiedLikely benign
(May 7, 2020)
criteria provided, single submitterVCV001120055
92.
GRCh37:
Chr16:21739698
GRCh38:
Chr16:21728377
OTOAD394G, D639G, D718Gnot specifiedLikely benign
(Aug 17, 2020)
criteria provided, single submitterVCV001120054
93.
GRCh37:
Chr17:18054816
GRCh38:
Chr17:18151502
MYO15AR2588Wnot specifiedLikely benign
(Aug 13, 2020)
criteria provided, single submitterVCV001120053
94.
GRCh37:
Chr18:44102079
GRCh38:
Chr18:46522116
LOXHD1not specified, not providedLikely benign
(Nov 20, 2020)
criteria provided, multiple submitters, no conflictsVCV001112010
95.
GRCh37:
Chr5:140070446
GRCh38:
Chr5:140690861
HARS1not specified, Usher syndrome, type 3BLikely benign
(Oct 8, 2020)
criteria provided, multiple submitters, no conflictsVCV001108485
96.
GRCh37:
Chr1:21889608
GRCh38:
Chr1:21563115
ALPLY101*, Y24*, Y46*not provided, Infantile hypophosphatasiaPathogenic/Likely pathogenic
(Jun 11, 2020)
criteria provided, multiple submitters, no conflictsVCV001076087
97.
GRCh37:
Chr10:102777893
GRCh38:
Chr10:101018136
PDZD7P505T, S495Rnot specified, not providedUncertain significance
(Sep 11, 2020)
criteria provided, multiple submitters, no conflictsVCV001058160
98.
GRCh37:
Chr1:158613314
GRCh38:
Chr1:158643524
SPTA1Hereditary spherocytosis, not providedPathogenic
(Jan 5, 2021)
criteria provided, multiple submitters, no conflictsVCV001030630
99.
GRCh37:
Chr19:57746411
GRCh38:
Chr19:57235043
AURKCY214*, Y229*, Y248*Male infertility with spermatogenesis disorderPathogenic
(Jun 19, 2020)
criteria provided, single submitterVCV001028940
100.
GRCh37:
Chr9:117266706
GRCh38:
Chr9:114504426
WHRNA126Tnot provided, not specifiedConflicting interpretations of pathogenicity
(Sep 28, 2020)
criteria provided, conflicting interpretationsVCV001018742
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