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Items: 1 to 100 of 2194

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr14:29237048
GRCh38:
Chr14:28767842
FOXG1A188ERett syndrome, congenital variantLikely pathogenic
(Jun 13, 2020)
criteria provided, single submitterVCV000929466
2.
GRCh37:
Chr22:29095910
GRCh38:
Chr22:28699922
CHEK2E308D, E241D, E351D, E87DFamilial cancer of breastUncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000915443
3.
GRCh37:
Chr3:37045940
GRCh38:
Chr3:37004449
MLH1T86A, T119A, T21ALynch syndrome IILikely pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915442
4.
GRCh37:
Chr12:121416614
GRCh38:
Chr12:120978811
HNF1AA15SDiabetes mellitus type 2Likely pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915441
5.
GRCh37:
Chr6:56480833
GRCh38:
Chr6:56616035
DSTR2478*not providedLikely pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915440
6.
GRCh37:
Chr9:35092018-35092033
GRCh38:
Chr9:35092021-35092036
PIGON617fsnot providedPathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915439
7.
GRCh37:
Chr5:13701471
GRCh38:
Chr5:13701362
DNAH5W4471*not providedPathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915438
8.
GRCh37:
Chr17:3384965-3384966
GRCh38:
Chr17:3481671-3481672
ASPA, SPATA22D104fsSpongy degeneration of central nervous systemPathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915436
9.
GRCh37:
Chr18:10736618
GRCh38:
Chr18:10736620
PIEZO2R1575Q, R1600Qnot specifiedLikely benign
(May 3, 2020)
criteria provided, single submitterVCV000915435
10.
GRCh37:
Chr1:1453111
GRCh38:
Chr1:1517731
ATAD3AD55N, D182N, D134NHarel-Yoon syndromeUncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000915434
11.
GRCh37:
Chr21:46897813
GRCh38:
Chr21:45477899
COL18A1G802fs, G567fsKnobloch syndrome 1Pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915433
12.
GRCh37:
Chr21:46907403
GRCh38:
Chr21:45487489
COL18A1R1041*, R806*Knobloch syndrome 1Likely pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915432
13.
GRCh37:
Chr6:160390322-160390328
GRCh38:
Chr6:159969290-159969296
IGF2RR18fsHepatocellular carcinomaLikely pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915431
14.
GRCh37:
Chr16:55532239
GRCh38:
Chr16:55498327
MMP2R550*, R474*, R500*Multicentric osteolysis, nodulosis and arthropathyPathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915430
15.
GRCh37:
Chr14:74953065
GRCh38:
Chr14:74486362
NPC2Q53*Niemann-Pick disease, type C2Pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915429
16.
GRCh37:
Chr17:65888074
GRCh38:
Chr17:67891958
BPTFK660R, K786RNEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIESUncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000915428
17.
GRCh37:
Chr12:49436954
GRCh38:
Chr12:49043171
KMT2DG1850DKabuki syndrome 1Benign
(May 3, 2020)
criteria provided, single submitterVCV000915427
18.
GRCh37:
Chr1:120307172-120307173
GRCh38:
Chr1:119764549-119764550
HMGCS2V61fsmitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiencyPathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915425
19.
GRCh37:
Chr1:949604-949612
GRCh38:
Chr1:1014224-1014232
ISG15Immunodeficiency 38 with basal ganglia calcificationUncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000915424
20.
GRCh37:
Chr7:40174043
GRCh38:
Chr7:40134444
MPLKIPR42*not providedPathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915423
21.
GRCh37:
Chr12:31254029
GRCh38:
Chr12:31101095
DDX11E647*, E673*Warsaw breakage syndromePathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915422
22.
GRCh37:
Chr11:68133072
GRCh38:
Chr11:68365604
LRP5C306YExudative vitreoretinopathy 4Likely pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915421
23.
GRCh37:
Chr4:122770053
GRCh38:
Chr4:121848898
BBS7G294RBardet-Biedl syndrome 7Pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915420
24.
GRCh37:
Chr10:75960527
GRCh38:
Chr10:74200769
ADKN7I, N24IHypermethioninemia due to adenosine kinase deficiencyUncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000915419
25.
GRCh37:
ChrX:99924332
GRCh38:
ChrX:100669335
SRPX2Q395*Rolandic epilepsy with mental retardation and speech dyspraxia, X-linkedPathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915418
26.
GRCh37:
Chr12:106838296-106838297
GRCh38:
Chr12:106444518-106444519
POLR3BI614fs, I672fsnot providedPathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915417
27.
GRCh37:
Chr3:4494612
GRCh38:
Chr3:4452928
SUMF1V131GMultiple sulfatase deficiencyLikely pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915416
28.
GRCh37:
Chr17:48674226
GRCh38:
Chr17:50596865
CACNA1GR1044H, R1067Hnot specifiedBenign
(May 3, 2020)
criteria provided, single submitterVCV000915415
29.
GRCh37:
ChrX:71886030
GRCh38:
ChrX:72666180
PHKA1T279AGlycogen storage disease IXdUncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000915414
30.
GRCh37:
Chr18:53303055
GRCh38:
Chr18:55635824
TCF4N25fsnot providedLikely pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915413
31.
GRCh37:
Chr10:73492143
GRCh38:
Chr10:71732386
CDH23, C10orf105Q1374fsnot providedPathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915412
32.
GRCh37:
Chr13:101756990
GRCh38:
Chr13:101104639
NALCNG854V, G883V, G912VHypotonia, infantile, with psychomotor retardation and characteristic facies 1Uncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000915411
33.
GRCh37:
Chr2:163123768
GRCh38:
Chr2:162267258
IFIH1P1007Hnot specifiedUncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000915410
34.
GRCh37:
ChrX:73744285
GRCh38:
ChrX:74524450
SLC16A2Y223DAllan-Herndon-Dudley syndromeUncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000915409
35.
GRCh37:
Chr15:40699850
GRCh38:
Chr15:40407649
IVDM37T, M53TIsovaleryl-CoA dehydrogenase deficiencyLikely pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915408
36.
GRCh37:
Chr17:8132074
GRCh38:
Chr17:8228756
CTC1Q1120*not providedPathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915407
37.
GRCh37:
Chr12:124110999
GRCh38:
Chr12:123626452
EIF2B1V175DLeukoencephalopathy with vanishing white matterUncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000915406
38.
GRCh37:
Chr15:43242549
GRCh38:
Chr15:42950351
UBR1C1673WJohanson-Blizzard syndromeUncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000915405
39.
GRCh37:
Chr10:76781960
GRCh38:
Chr10:75022202
KAT6BK932Q, K420Q, K552Q, K760Q, K1115Q, K334Q, K769Q, K823Qnot specifiedUncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000915404
40.
GRCh37:
ChrX:53430598
GRCh38:
ChrX:53403666
SMC1AD774N, D752NCongenital muscular hypertrophy-cerebral syndromeUncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000915403
41.
GRCh37:
Chr1:1640965
GRCh38:
Chr1:1709526
CDK11AR237Q, R246Q, R247Qnot providedUncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000915402
42.
GRCh37:
Chr17:41245863-41245864
GRCh38:
Chr17:43093846-43093847
BRCA1I515fs, I562fsBreast-ovarian cancer, familial 1Pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915401
43.
GRCh37:
Chr21:47754649
GRCh38:
Chr21:46334735
PCNTH203fs, H85fsMicrocephalic osteodysplastic primordial dwarfism type IILikely pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915399
44.
GRCh37:
Chr3:49759369-49759370
GRCh38:
Chr3:49721936-49721937
GMPPBE327fsnot providedLikely pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915398
45.
GRCh37:
Chr22:42611034
GRCh38:
Chr22:42215028
TCF20A93VDEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIESUncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000915397
46.
GRCh37:
ChrX:12704222
GRCh38:
ChrX:12686103
FRMPD4V154I, V196I, V231I, V186I, V194I, V191IMental retardation, X-linked 104Uncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000915396
47.
GRCh37:
Chr16:68371424
GRCh38:
Chr16:68337521
PRMT7G83R, G102R, G152R, G73RShort stature, brachydactyly, intellectual developmental disability, and seizuresUncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000915395
48.
GRCh37:
Chr8:100732771
GRCh38:
Chr8:99720543
VPS13BQ2286*, Q2311*not providedPathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915394
49.
GRCh37:
Chr17:7919059
GRCh38:
Chr17:8015741
GUCY2DCone-rod dystrophy 6Pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915393
50.
GRCh37:
Chr19:39977110
GRCh38:
Chr19:39486470
TIMM50R111I, R224I3-methylglutaconic aciduria type 9Uncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000915392
51.
GRCh37:
Chr19:48945081
GRCh38:
Chr19:48441824
GRIN2DD770NEpileptic encephalopathy, early infantile, 46Uncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000915391
52.
GRCh37:
ChrX:25025423
GRCh38:
ChrX:25007306
ARXP418REpileptic encephalopathy, early infantile, 1Uncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000915390
53.
GRCh37:
Chr17:7989381
GRCh38:
Chr17:8086063
ALOX12BY102Cnot providedLikely pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915389
54.
GRCh37:
Chr13:60565311
GRCh38:
Chr13:59991177
DIAPH3R185*, R437*, R448*, R378*, R402*Auditory neuropathy, autosomal dominant, 1Uncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000915388
55.
GRCh37:
Chr2:241700146
GRCh38:
Chr2:240760729
KIF1AV794M, V785M, V819M, V810MIntellectual disability, autosomal dominant 9Uncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000915387
56.
GRCh37:
Chr6:31902066-31902076
GRCh38:
Chr6:31934289-31934299
C2M251fs, M280fs, M148fsComplement component 2 deficiencyLikely pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915386
57.
GRCh37:
Chr4:107092328
GRCh38:
Chr4:106171171
TBCKS657F, S548F, S681F, S720FHypotonia, infantile, with psychomotor retardation and characteristic facies 3Likely pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915385
58.
GRCh37:
Chr1:245027477
GRCh38:
Chr1:244864175
HNRNPUE45QEpileptic encephalopathy, early infantile, 54Uncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000915384
59.
GRCh37:
Chr16:14723502
GRCh38:
Chr16:14629645
PARNQ17*not providedPathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915383
60.
GRCh37:
Chr1:22211833
GRCh38:
Chr1:21885340
HSPG2R397QSchwartz-Jampel syndromeUncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000915382
61.
GRCh37:
Chr1:22179283
GRCh38:
Chr1:21852790
HSPG2D2213N, D2212NSchwartz-Jampel syndromeUncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000915381
62.
GRCh37:
Chr19:40900209
GRCh38:
Chr19:40394302
PRXS1351fsnot provided, Charcot-Marie-Tooth disease type 4Conflicting interpretations of pathogenicity
(May 3, 2020)
criteria provided, conflicting interpretationsVCV000915380
63.
GRCh37:
Chr1:3342713
GRCh38:
Chr1:3426149
PRDM16D1070Nnot specifiedLikely benign
(May 3, 2020)
criteria provided, single submitterVCV000915379
64.
GRCh37:
Chr1:74819687
GRCh38:
Chr1:74354003
TNNI3K, FPGT-TNNI3KG351S, G465Snot providedLikely benign
(May 3, 2020)
criteria provided, single submitterVCV000915378
65.
GRCh37:
Chr11:65638016
GRCh38:
Chr11:65870545
EFEMP2E161KAutosomal recessive cutis laxa type 1BPathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915377
66.
GRCh37:
Chr5:16565870
GRCh38:
Chr5:16565761
RETREG1Hereditary sensory and autonomic neuropathy type IIBPathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915376
67.
GRCh37:
Chr7:82997087
GRCh38:
Chr7:83367771
SEMA3EQ655K, Q715KCHARGE associationLikely benign
(May 3, 2020)
criteria provided, single submitterVCV000915375
68.
GRCh37:
Chr16:64982601
GRCh38:
Chr16:64948698
CDH11K662*not providedLikely pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915374
69.
GRCh37:
Chr19:50208490
GRCh38:
Chr19:49705233
CPT1CR289H, R300H, R322HSpastic paraplegia 73, autosomal dominantLikely benign
(May 3, 2020)
criteria provided, single submitterVCV000915373
70.
GRCh37:
Chr2:152490457
GRCh38:
Chr2:151633943
NEBC3042YNemaline myopathy 2Uncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000915372
71.
GRCh37:
Chr1:161140283
GRCh38:
Chr1:161170493
PPOXG325R, G222R, G196R, G358RVariegate porphyriaPathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915371
72.
GRCh37:
Chr18:31325392-31325403
GRCh38:
Chr18:33745428-33745439
ASXL3Bainbridge-Ropers syndromeUncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000915370
73.
GRCh37:
Chr10:71142370
GRCh38:
Chr10:69382614
HK1E465K, E469K, E453K, E500K, E464K, E433K, E437KNEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIESLikely pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915369
74.
GRCh37:
Chr13:101890105
GRCh38:
Chr13:101237754
NALCNHypotonia, infantile, with psychomotor retardation and characteristic facies 1Pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915368
75.
GRCh37:
Chr12:46246675
GRCh38:
Chr12:45852892
ARID2P1590LCOFFIN-SIRIS SYNDROME 6Benign
(May 3, 2020)
criteria provided, single submitterVCV000915367
76.
GRCh37:
Chr6:152697632
GRCh38:
Chr6:152376497
SYNE1R3070*, R3077*Emery-Dreifuss muscular dystrophy 4, autosomal dominantPathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915366
77.
GRCh37:
Chr16:75590118
GRCh38:
Chr16:75556220
TMEM231E18*not providedLikely pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915365
78.
GRCh37:
Chr3:48611723
GRCh38:
Chr3:48574290
COL7A1R2158Hnot providedLikely pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915364
79.
GRCh37:
Chr4:146576558
GRCh38:
Chr4:145655406
MMAAL410*Vitamin B12-responsive methylmalonic acidemia type cblAPathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915363
80.
GRCh37:
Chr4:146576299
GRCh38:
Chr4:145655147
MMAAV324IVitamin B12-responsive methylmalonic acidemia type cblAUncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000915362
81.
GRCh37:
Chr16:2347880
GRCh38:
Chr16:2297879
ABCA3Q647*Surfactant metabolism dysfunction, pulmonary, 3Pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915361
82.
GRCh37:
Chr8:38876404
GRCh38:
Chr8:39018885
ADAM9Y213*Cone-rod dystrophy 9Pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915360
83.
GRCh37:
Chr11:17409401
GRCh38:
Chr11:17387854
KCNJ11L80fsnot providedPathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915359
84.
GRCh37:
Chr10:73583653
GRCh38:
Chr10:71823896
PSAPQ260*not providedPathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915358
85.
GRCh37:
Chr3:41268776
GRCh38:
Chr3:41227285
CTNNB1W331*, W338*Mental retardation, autosomal dominant 19Pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915357
86.
GRCh37:
Chr16:56362687
GRCh38:
Chr16:56328775
GNAO1N150Hnot providedLikely pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915356
87.
GRCh37:
Chr10:73082629
GRCh38:
Chr10:71322872
SLC29A3P41fsHistiocytosis-lymphadenopathy plus syndromePathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915355
88.
GRCh37:
Chr7:100852238
GRCh38:
Chr7:101208957
PLOD3P562SBone fragility with contractures, arterial rupture, and deafnessUncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000915354
89.
GRCh37:
Chr11:72006661
GRCh38:
Chr11:72295617
CLPBI425T, I454T, I484T, I439T3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropeniaUncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000915353
90.
GRCh37:
Chr22:42464536
GRCh38:
Chr22:42068532
NAGAN20Snot specifiedUncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000915352
91.
GRCh37:
Chr3:4711379
GRCh38:
Chr3:4669695
ITPR1K643R, K628Rnot specifiedUncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000915351
92.
GRCh37:
Chr3:47887914
GRCh38:
Chr3:47846424
DHX30P423L, P451L, P412LNEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGEUncertain significance
(May 3, 2020)
criteria provided, single submitterVCV000915350
93.
GRCh37:
Chr6:39893587
GRCh38:
Chr6:39925843
MOCS1Q85*not providedPathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915349
94.
GRCh37:
Chr12:48240526
GRCh38:
Chr12:47846743
VDRR324H, R274Hnot providedLikely pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915348
95.
GRCh37:
ChrX:53280121
GRCh38:
ChrX:53250939
IQSEC2W546*, W341*Mental retardation, X-linked 1Pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915347
96.
GRCh37:
Chr5:36976444
GRCh38:
Chr5:36976342
NIPBLR479GCornelia de Lange syndrome 1Likely pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915346
97.
GRCh37:
Chr16:1004569
GRCh38:
Chr16:954569
LMF1Y97*not providedPathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915345
98.
GRCh37:
Chr15:90320171
GRCh38:
Chr15:89776940
MESP2G195*not providedLikely pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915344
99.
GRCh37:
Chr12:94132007
GRCh38:
Chr12:93738231
CRADDM111fsnot providedLikely pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915343
100.
GRCh37:
Chr2:210787013-210787014
GRCh38:
Chr2:209922289-209922290
UNC80V1791fs, V1857fs, V1786fsnot providedLikely pathogenic
(May 3, 2020)
criteria provided, single submitterVCV000915342
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