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Items: 1 to 100 of 338000

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr4:995459
GRCh38:
Chr4:1001671
IDUAMucopolysaccharidosis type 1Likely benign
(Nov 21, 2020)
criteria provided, single submitterVCV000794180
2.
GRCh37:
Chr13:101734002
GRCh38:
Chr13:101081651
NALCNnot providedBenign
(Nov 8, 2018)
criteria provided, single submitterVCV000794179
3.
GRCh37:
Chr6:64776332
GRCh38:
Chr6:64066439
EYSnot providedLikely benign
(Feb 14, 2020)
criteria provided, single submitterVCV000794178
4.
GRCh37:
Chr12:57592296
GRCh38:
Chr12:57198513
LRP1not providedLikely benign
(Nov 8, 2018)
criteria provided, single submitterVCV000794177
5.
GRCh37:
Chr5:89924457
GRCh38:
Chr5:90628640
ADGRV1not provided, Usher syndrome, type 2CConflicting interpretations of pathogenicity
(Oct 1, 2020)
criteria provided, conflicting interpretationsVCV000794176
6.
GRCh37:
Chr4:996152
GRCh38:
Chr4:1002364
IDUAMucopolysaccharidosis type 1, not providedLikely benign
(Nov 1, 2018)
criteria provided, single submitterVCV000794175
7.
GRCh37:
ChrX:152990838
GRCh38:
ChrX:153725383
ABCD1Adrenoleukodystrophy, not providedLikely benign
(Nov 7, 2018)
criteria provided, single submitterVCV000794174
8.
GRCh37:
Chr9:5089776
GRCh38:
Chr9:5089776
JAK2, INSL6L892V, L743V, L487Vnot providedLikely benign
(Nov 8, 2018)
criteria provided, single submitterVCV000794173
9.
GRCh37:
Chr13:100861681
GRCh38:
Chr13:100209427
PCCAnot provided, Propionic acidemiaLikely benign
(Nov 7, 2018)
criteria provided, single submitterVCV000794172
10.
GRCh37:
Chr8:87638203
GRCh38:
Chr8:86625975
CNGB3not providedLikely benign
(Nov 7, 2018)
criteria provided, single submitterVCV000794171
11.
GRCh37:
Chr14:74711982
GRCh38:
Chr14:74245279
VSX2not provided, Microphthalmia, isolated 2Likely benign
(Oct 31, 2018)
criteria provided, single submitterVCV000794170
12.
GRCh37:
Chr12:132414447
GRCh38:
Chr12:131929902
PUS1not providedLikely benign
(Oct 31, 2018)
criteria provided, single submitterVCV000794169
13.
GRCh37:
Chr10:55587191
GRCh38:
Chr10:53827431
PCDH15not providedLikely benign
(Oct 31, 2018)
criteria provided, single submitterVCV000794168
14.
GRCh37:
Chr6:88226565
GRCh38:
Chr6:87516847
RARS2not providedLikely benign
(Jan 28, 2021)
criteria provided, multiple submitters, no conflictsVCV000794167
15.
GRCh37:
Chr10:73472486
GRCh38:
Chr10:71712729
CDH23, C10orf105not providedLikely benign
(Nov 14, 2020)
criteria provided, single submitterVCV000794166
16.
GRCh37:
Chr19:39078048
GRCh38:
Chr19:38587408
RYR1not provided, RYR1-Related DisordersLikely benign
(Nov 16, 2018)
criteria provided, single submitterVCV000794165
17.
GRCh37:
Chr5:126146050
GRCh38:
Chr5:126810358
LMNB1not providedLikely benign
(Nov 8, 2018)
criteria provided, single submitterVCV000794164
18.
GRCh37:
Chr4:16168329
GRCh38:
Chr4:16166706
TAPT1not providedLikely benign
(Nov 8, 2018)
criteria provided, single submitterVCV000794163
19.
GRCh37:
Chr2:88874444
GRCh38:
Chr2:88574926
EIF2AK3, LOC101928371not providedLikely benign
(Nov 3, 2018)
criteria provided, single submitterVCV000794162
20.
GRCh37:
Chr2:27676852
GRCh38:
Chr2:27453985
IFT172not providedLikely benign
(Nov 8, 2018)
criteria provided, single submitterVCV000794161
21.
GRCh37:
Chr14:95570295
GRCh38:
Chr14:95103958
DICER1DICER1-related pleuropulmonary blastoma cancer predisposition syndrome, not providedLikely benign
(Nov 6, 2018)
criteria provided, single submitterVCV000794160
22.
GRCh37:
Chr17:7579570
GRCh38:
Chr17:7676252
TP53Li-Fraumeni syndrome, not providedLikely benign
(Nov 6, 2018)
criteria provided, single submitterVCV000794159
23.
GRCh37:
Chr19:11123708
GRCh38:
Chr19:11013032
SMARCA4Rhabdoid tumor predisposition syndrome 2, not providedLikely benign
(Nov 6, 2018)
criteria provided, single submitterVCV000794158
24.
GRCh37:
Chr17:29546082
GRCh38:
Chr17:31219064
NF1not provided, Neurofibromatosis, type 1Likely benign
(Sep 16, 2020)
criteria provided, single submitterVCV000794157
25.
GRCh37:
Chr8:145737845
GRCh38:
Chr8:144512462
RECQL4Baller-Gerold syndrome, not providedLikely benign
(Dec 15, 2018)
criteria provided, single submitterVCV000794156
26.
GRCh37:
Chr14:95582907
GRCh38:
Chr14:95116570
DICER1DICER1-related pleuropulmonary blastoma cancer predisposition syndromeLikely benign
(Oct 19, 2019)
criteria provided, single submitterVCV000794155
27.
GRCh37:
Chr2:48032172-48032175
GRCh38:
Chr2:47805033-47805036
MSH6Hereditary nonpolyposis colorectal neoplasmsLikely benign
(Feb 26, 2020)
criteria provided, single submitterVCV000794154
28.
GRCh37:
Chr15:91346818
GRCh38:
Chr15:90803588
BLMnot provided, Bloom syndromeLikely benign
(Nov 5, 2018)
criteria provided, single submitterVCV000794153
29.
GRCh37:
Chr17:29533332
GRCh38:
Chr17:31206314
NF1not provided, Neurofibromatosis, type 1Likely benign
(Nov 6, 2018)
criteria provided, single submitterVCV000794152
30.
GRCh37:
Chr22:50660298
GRCh38:
Chr22:50221869
TUBGCP6not providedLikely benign
(Nov 5, 2018)
criteria provided, single submitterVCV000794151
31.
GRCh37:
Chr22:37329915
GRCh38:
Chr22:36933873
CSF2RBnot providedBenign
(Oct 19, 2020)
criteria provided, single submitterVCV000794150
32.
GRCh37:
Chr17:7577038
GRCh38:
Chr17:7673720
TP53Hereditary cancer-predisposing syndrome, not providedLikely benign
(Jan 26, 2019)
criteria provided, multiple submitters, no conflictsVCV000794149
33.
GRCh37:
Chr16:50745013
GRCh38:
Chr16:50711102
NOD2Inflammatory bowel disease 1, Blau syndrome, not provided
Likely benign
(Apr 14, 2020)
criteria provided, single submitterVCV000794148
34.
GRCh37:
Chr11:47238454
GRCh38:
Chr11:47216903
DDB2not providedLikely benign
(Nov 5, 2018)
criteria provided, single submitterVCV000794147
35.
GRCh37:
Chr10:43281013
GRCh38:
Chr10:42785565
BMS1V87Anot providedLikely benign
(Nov 5, 2018)
criteria provided, single submitterVCV000794146
36.
GRCh37:
Chr9:117004490
GRCh38:
Chr9:114242210
COL27A1not providedLikely benign
(Dec 7, 2020)
criteria provided, single submitterVCV000794145
37.
GRCh37:
Chr8:119945260
GRCh38:
Chr8:118933021
TNFRSF11BV104MHyperphosphatasemia with bone disease, not providedBenign
(Nov 5, 2018)
criteria provided, multiple submitters, no conflictsVCV000794144
38.
GRCh37:
Chr8:42297161
GRCh38:
Chr8:42439643
SLC20A2not providedLikely benign
(Nov 5, 2018)
criteria provided, single submitterVCV000794143
39.
GRCh37:
Chr7:150692411
GRCh38:
Chr7:150995323
NOS3not providedLikely benign
(Nov 5, 2018)
criteria provided, single submitterVCV000794142
40.
GRCh37:
Chr7:73654342
GRCh38:
Chr7:74240012
RFC2E173K, E104K, E106K, E207K, E72Knot providedBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000794141
41.
GRCh37:
Chr6:111672922
GRCh38:
Chr6:111351719
REV3Lnot providedLikely benign
(Nov 5, 2018)
criteria provided, single submitterVCV000794140
42.
GRCh37:
Chr6:21595779
GRCh38:
Chr6:21595548
SOX4not providedLikely benign
(Nov 5, 2018)
criteria provided, single submitterVCV000794139
43.
GRCh37:
Chr6:7231125
GRCh38:
Chr6:7230892
RREB1not providedLikely benign
(Nov 5, 2018)
criteria provided, single submitterVCV000794138
44.
GRCh37:
Chr17:78078523
GRCh38:
Chr17:80104724
GAAGlycogen storage disease, type IILikely benign
(Nov 1, 2020)
criteria provided, single submitterVCV000794137
45.
GRCh37:
Chr2:238303702
GRCh38:
Chr2:237395059
COL6A3Bethlem myopathy 1Likely benign
(May 29, 2019)
criteria provided, single submitterVCV000794136
46.
GRCh37:
Chr2:223163264
GRCh38:
Chr2:222298545
PAX3, CCDC140G24Vnot providedLikely benign
(Nov 5, 2018)
criteria provided, single submitterVCV000794135
47.
GRCh37:
Chr2:179590201
GRCh38:
Chr2:178725474
TTNLimb-girdle muscular dystrophy, type 2J, Dilated cardiomyopathy 1GLikely benign
(Nov 25, 2020)
criteria provided, single submitterVCV000794134
48.
GRCh37:
Chr16:28943943
GRCh38:
Chr16:28932622
CD19not providedLikely benign
(Nov 5, 2018)
criteria provided, single submitterVCV000794133
49.
GRCh37:
Chr1:181693649
GRCh38:
Chr1:181724513
CACNA1Enot providedLikely benign
(Nov 5, 2018)
criteria provided, single submitterVCV000794132
50.
GRCh37:
Chr1:47716925
GRCh38:
Chr1:47251253
STILnot providedLikely benign
(Nov 5, 2018)
criteria provided, single submitterVCV000794131
51.
GRCh37:
Chr1:22151084
GRCh38:
Chr1:21824591
HSPG2, LDLRAD2not providedLikely benign
(Nov 5, 2018)
criteria provided, single submitterVCV000794130
52.
GRCh37:
Chr12:53072481
GRCh38:
Chr12:52678697
KRT1Q217Hnot providedLikely benign
(Nov 5, 2018)
criteria provided, single submitterVCV000794129
53.
GRCh37:
Chr11:76890966
GRCh38:
Chr11:77179920
MYO7Anot providedLikely benign
(Nov 5, 2018)
criteria provided, single submitterVCV000794128
54.
GRCh37:
Chr8:144991626
GRCh38:
Chr8:143917458
PLECnot providedLikely benign
(Nov 5, 2018)
criteria provided, single submitterVCV000794127
55.
GRCh37:
Chr6:43582222
GRCh38:
Chr6:43614485
POLH, POLR1Cnot providedLikely benign
(Nov 5, 2018)
criteria provided, single submitterVCV000794126
56.
GRCh37:
Chr2:238303723
GRCh38:
Chr2:237395080
COL6A3not providedLikely benign
(Nov 5, 2018)
criteria provided, single submitterVCV000794125
57.
GRCh37:
ChrX:149832016
GRCh38:
ChrX:150663543
MTM1Severe X-linked myotubular myopathyLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000794124
58.
GRCh37:
Chr8:126062815
GRCh38:
Chr8:125050573
WASHC5Ritscher-Schinzel syndrome, Hereditary spastic paraplegia 8Likely benign
(Jan 25, 2019)
criteria provided, single submitterVCV000794123
59.
GRCh37:
Chr16:72133693
GRCh38:
Chr16:72099794
DHX38not providedLikely benign
(Nov 6, 2018)
criteria provided, single submitterVCV000794122
60.
GRCh37:
Chr16:56530999
GRCh38:
Chr16:56497087
BBS2not providedLikely benign
(Nov 6, 2018)
criteria provided, single submitterVCV000794121
61.
GRCh37:
Chr9:123298751
GRCh38:
Chr9:120536473
CDK5RAP2not providedLikely benign
(Nov 6, 2018)
criteria provided, single submitterVCV000794120
62.
GRCh37:
Chr22:50682640
GRCh38:
Chr22:50244211
TUBGCP6not providedLikely benign
(Dec 20, 2019)
criteria provided, single submitterVCV000794119
63.
GRCh37:
Chr6:7211928
GRCh38:
Chr6:7211695
RREB1not providedLikely benign
(Nov 6, 2018)
criteria provided, single submitterVCV000794118
64.
GRCh37:
Chr17:27614007
GRCh38:
Chr17:29286989
NUFIP2not providedLikely benign
(Nov 15, 2018)
criteria provided, single submitterVCV000794117
65.
GRCh37:
Chr2:206610547
GRCh38:
Chr2:205745823
NRP2not providedLikely benign
(Nov 6, 2018)
criteria provided, single submitterVCV000794116
66.
GRCh37:
Chr2:169996102
GRCh38:
Chr2:169139592
LRP2not providedLikely benign
(Nov 6, 2018)
criteria provided, single submitterVCV000794115
67.
GRCh37:
Chr2:131098548
GRCh38:
Chr2:130340975
CCDC115not providedLikely benign
(Nov 6, 2018)
criteria provided, single submitterVCV000794114
68.
GRCh37:
Chr2:167168219
GRCh38:
Chr2:166311709
SCN9AGeneralized epilepsy with febrile seizures plus, type 7, Hereditary sensory and autonomic neuropathy type IIA, not provided
Likely benign
(Jun 8, 2020)
criteria provided, single submitterVCV000794113
69.
GRCh37:
Chr12:2750621
GRCh38:
Chr12:2641455
CACNA1CLong QT syndromeBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000794112
70.
GRCh37:
ChrX:38262939
GRCh38:
ChrX:38403686
OTCOrnithine carbamoyltransferase deficiency, not providedLikely benign
(Aug 29, 2020)
criteria provided, single submitterVCV000794111
71.
GRCh37:
Chr17:73518170
GRCh38:
Chr17:75522089
TSEN54not providedLikely benign
(Nov 3, 2018)
criteria provided, single submitterVCV000794110
72.
GRCh37:
Chr17:58236599
GRCh38:
Chr17:60159238
CA4not provided, Retinitis pigmentosaConflicting interpretations of pathogenicity
(Jun 30, 2020)
criteria provided, conflicting interpretationsVCV000794109
73.
GRCh37:
Chr17:38555304
GRCh38:
Chr17:40399052
TOP2Anot providedLikely benign
(Nov 3, 2018)
criteria provided, single submitterVCV000794108
74.
GRCh37:
Chr11:1955856
GRCh38:
Chr11:1934626
TNNT3not providedLikely benign
(Nov 15, 2018)
criteria provided, single submitterVCV000794107
75.
GRCh37:
Chr8:17132338
GRCh38:
Chr8:17274829
VPS37Anot providedLikely benign
(Nov 15, 2018)
criteria provided, single submitterVCV000794106
76.
GRCh37:
Chr9:117008169
GRCh38:
Chr9:114245889
COL27A1not providedLikely benign
(Oct 31, 2018)
criteria provided, single submitterVCV000794105
77.
GRCh37:
Chr5:1221338
GRCh38:
Chr5:1221223
SLC6A19not providedLikely benign
(Nov 15, 2018)
criteria provided, single submitterVCV000794104
78.
GRCh37:
Chr6:32944662
GRCh38:
Chr6:32976885
BRD2not providedLikely benign
(Nov 3, 2018)
criteria provided, single submitterVCV000794103
79.
GRCh37:
Chr2:179472354
GRCh38:
Chr2:178607627
TTN, TTN-AS1not providedLikely benign
(Nov 15, 2018)
criteria provided, single submitterVCV000794102
80.
GRCh37:
Chr22:51065177
GRCh38:
Chr22:50626749
ARSAnot provided, Metachromatic leukodystrophyLikely benign
(Nov 2, 2020)
criteria provided, single submitterVCV000794101
81.
GRCh37:
Chr2:98887268
GRCh38:
Chr2:98270805
VWA3Bnot providedLikely benign
(Nov 15, 2018)
criteria provided, single submitterVCV000794100
82.
GRCh37:
Chr2:74688546
GRCh38:
Chr2:74461419
MOGSnot providedLikely benign
(Nov 15, 2018)
criteria provided, single submitterVCV000794099
83.
GRCh37:
Chr1:227152880
GRCh38:
Chr1:226965179
COQ8Anot providedLikely benign
(Nov 15, 2018)
criteria provided, single submitterVCV000794098
84.
GRCh37:
Chr4:1834603
GRCh38:
Chr4:1832876
LETM1not providedLikely benign
(Nov 3, 2018)
criteria provided, single submitterVCV000794097
85.
GRCh37:
Chr4:1232055
GRCh38:
Chr4:1238267
CTBP1not providedLikely benign
(Nov 3, 2018)
criteria provided, single submitterVCV000794096
86.
GRCh37:
Chr11:5247475
GRCh38:
Chr11:5226245
HBB, LOC107133510, LOC110006319not providedLikely benign
(Oct 15, 2020)
criteria provided, single submitterVCV000794095
87.
GRCh37:
Chr9:104190794
GRCh38:
Chr9:101428512
ALDOBnot provided, Hereditary fructosuriaLikely benign
(Oct 6, 2020)
criteria provided, single submitterVCV000794094
88.
GRCh37:
Chr9:116918301
GRCh38:
Chr9:114156021
COL27A1not providedLikely benign
(Mar 26, 2019)
criteria provided, single submitterVCV000794093
89.
GRCh37:
Chr3:14208711
GRCh38:
Chr3:14167211
XPCnot providedLikely benign
(Mar 8, 2020)
criteria provided, single submitterVCV000794092
90.
GRCh37:
Chr5:112090692
GRCh38:
Chr5:112754995
APCnot provided, Familial adenomatous polyposis 1Likely benign
(Oct 31, 2018)
criteria provided, single submitterVCV000794091
91.
GRCh37:
Chr17:59853903
GRCh38:
Chr17:61776542
BRIP1Hereditary cancer-predisposing syndrome, Fanconi anemia, complementation group J, Familial cancer of breast
Likely benign
(Mar 28, 2019)
criteria provided, multiple submitters, no conflictsVCV000794090
92.
GRCh37:
ChrX:154158785
GRCh38:
ChrX:154930510
F8E1094Knot providedLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000794089
93.
GRCh37:
ChrX:132670290
GRCh38:
ChrX:133536262
GPC3Wilms tumor 1Likely benign
(Mar 31, 2020)
criteria provided, single submitterVCV000794088
94.
GRCh37:
ChrX:107084477
GRCh38:
ChrX:107841247
MID2not providedBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000794087
95.
GRCh37:
Chr22:50657306
GRCh38:
Chr22:50218877
TUBGCP6not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000794086
96.
GRCh37:
Chr22:38130546
GRCh38:
Chr22:37734539
TRIOBPnot providedLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000794085
97.
GRCh37:
Chr2:9634850
GRCh38:
Chr2:9494721
ADAM17, IAH1not provided, Inflammatory skin and bowel disease, neonatal 1Likely benign
(Nov 17, 2018)
criteria provided, single submitterVCV000794084
98.
GRCh37:
Chr20:3210388
GRCh38:
Chr20:3229742
SLC4A11not providedLikely benign
(Jan 23, 2020)
criteria provided, single submitterVCV000794083
99.
GRCh37:
Chr13:32900624
GRCh38:
Chr13:32326487
BRCA2not provided, Hereditary breast and ovarian cancer syndromeLikely benign
(Oct 31, 2018)
criteria provided, single submitterVCV000794082
100.
GRCh37:
Chr19:15662114
GRCh38:
Chr19:15551303
CYP4F22not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000794081
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