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Items: 1 to 100 of 94800

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr15:26825568
GRCh38:
Chr15:26580421
GABRB3R123*, R109*Epilepsy, childhood absence, susceptibility to, 1, Epilepsy, childhood absence, susceptibility to, 5, not specified
Conflicting interpretations of pathogenicity
(Sep 9, 2019)
criteria provided, conflicting interpretations
2.
GRCh37:
Chr17:56811494
GRCh38:
Chr17:58734133
RAD51CD348HFanconi anemia complementation group OUncertain significance
(Jul 22, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr10:135178224
GRCh38:
Chr10:133364720
ECHS1E249Knot providedUncertain significance
(Jul 31, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr17:12905895
GRCh38:
Chr17:13002578
ELAC2F321V, F361VCombined oxidative phosphorylation defect type 17Uncertain significance
(Oct 17, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr19:46087993
GRCh38:
Chr19:45584735
OPA3K10N3-Methylglutaconic aciduria type 3, Optic atrophy 3Uncertain significance
(Jul 22, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr3:3189611
GRCh38:
Chr3:3147927
TRNT1T340S, T360SCongenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndromeUncertain significance
(Aug 9, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr2:220095050
GRCh38:
Chr2:219230328
ANKZF1P24Lnot providedUncertain significance
(Sep 8, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr18:57122177
GRCh38:
Chr18:59454945
CCBE1E187Gnot providedUncertain significance
(Aug 17, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr6:3154194
GRCh38:
Chr6:3153960
TUBB2AN329S, N414Snot providedUncertain significance
(Sep 12, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr14:51382622
GRCh38:
Chr14:50915904
PYGLR353L, R387LGlycogen storage disease, type VIUncertain significance
(Aug 17, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr3:38651368
GRCh38:
Chr3:38609877
SCN5AF264SBrugada syndromeUncertain significance
(Aug 17, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr1:45799214
GRCh38:
Chr1:45333542
MUTYHE17D, E45D, E46D, E52D, E56D, E59D, E60D, E70D, E73DFamilial adenomatous polyposis 2Uncertain significance
(Oct 7, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr19:15298058
GRCh38:
Chr19:15187247
NOTCH3F566Lnot providedUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr16:16291950
GRCh38:
Chr16:16198093
ABCC6E308D, E422Dnot providedUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr9:6587149
GRCh38:
Chr9:6587149
GLDCQ614HNon-ketotic hyperglycinemiaUncertain significance
(Sep 2, 2022)
criteria provided, single submitter
16.
GRCh37:
ChrX:77284837
GRCh38:
ChrX:78029340
ATP7AS1003P, S925PMenkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3, Cutis laxa, X-linked
Uncertain significance
(Jul 21, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr2:166245999
GRCh38:
Chr2:165389489
SCN2AP1895TSeizures, benign familial infantile, 3, Developmental and epileptic encephalopathy, 11Uncertain significance
(Aug 20, 2022)
criteria provided, single submitter
18.
GRCh37:
ChrX:53407626
GRCh38:
ChrX:53380705
SMC1AS1156L, S1178LCongenital muscular hypertrophy-cerebral syndromeUncertain significance
(Aug 3, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr1:150460460
GRCh38:
Chr1:150487984
TARS2L65Vnot providedUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr17:17698495
GRCh38:
Chr17:17795181
RAI1A745Snot providedUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr7:156798416
GRCh38:
Chr7:157005722
MNX1G123A, G335Anot providedUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr13:100635271
GRCh38:
Chr13:99983017
ZIC2Y318CHoloprosencephaly 5Uncertain significance
(Jul 28, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr3:52443592
GRCh38:
Chr3:52409576
BAP1D34YBAP1-related tumor predisposition syndromeUncertain significance
(Jul 14, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr6:33271926
GRCh38:
Chr6:33304149
TAPBPF340L, F427LMHC class I deficiencyUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr9:6556165
GRCh38:
Chr9:6556165
GLDCN730KNon-ketotic hyperglycinemiaUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr5:89941798
GRCh38:
Chr5:90645981
ADGRV1M971Knot providedUncertain significance
(Oct 5, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr2:241710515
GRCh38:
Chr2:240771098
KIF1AN396S, N405S, N421S, N430SHereditary spastic paraplegia 30, Neuropathy, hereditary sensory, type 2C, Intellectual disability, autosomal dominant 9
Uncertain significance
(Aug 10, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr17:76133809
GRCh38:
Chr17:78137728
TMC8N421KEpidermodysplasia verruciformisUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr6:35434042
GRCh38:
Chr6:35466265
FANCEG511C, W446CFanconi anemia complementation group EUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr20:6759671
GRCh38:
Chr20:6779024
BMP2E376Knot providedUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr21:44837640
GRCh38:
Chr21:43417760
SIK1R587WDevelopmental and epileptic encephalopathy, 30Uncertain significance
(Jul 21, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr4:39255583
GRCh38:
Chr4:39253963
WDR19K818N, K978NSenior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5Uncertain significance
(Jul 21, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr1:197091560
GRCh38:
Chr1:197122430
ASPMD1186Hnot providedUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr12:133257834
GRCh38:
Chr12:132681248
POLEL32VColorectal cancer, susceptibility to, 12Uncertain significance
(Jul 14, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr11:2869047
GRCh38:
Chr11:2847817
KCNQ1, KCNQ1-AS1Q119H, Q435H, Q488H, Q525H, Q583H, Q615HLong QT syndromeUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr18:56411578
GRCh38:
Chr18:58744346
MALT1E577Q, E588QCombined immunodeficiency due to MALT1 deficiencyUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr2:152392221
GRCh38:
Chr2:151535707
NEBT5398S, T7099SNemaline myopathy 2Uncertain significance
(Jul 21, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr2:27601895
GRCh38:
Chr2:27379028
ZNF513L18F, L80Fnot providedUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr8:31001075
GRCh38:
Chr8:31143559
WRNE1107KWerner syndromeUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr17:29559186
GRCh38:
Chr17:31232168
NF1A1098VNeurofibromatosis, type 1Uncertain significance
(Jul 21, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr12:12870795
GRCh38:
Chr12:12717861
CDKN1BN8YMultiple endocrine neoplasia type 4Uncertain significance
(Jul 21, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr17:57737833
GRCh38:
Chr17:59660472
CLTCM351V, M355Vnot providedUncertain significance
(Oct 23, 2022)
criteria provided, single submitter
43.
GRCh37:
ChrX:49853490
GRCh38:
ChrX:50088833
CLCN5D495Y, D515Y, D565Ynot providedUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr8:17941560
GRCh38:
Chr8:18084051
ASAH1G3Vnot providedUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr2:149247186
GRCh38:
Chr2:148489617
MBD5A1096T, A1329TIntellectual disability, autosomal dominant 1Uncertain significance
(Jul 15, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr14:102466480
GRCh38:
Chr14:102000143
DYNC1H1Q1320PCharcot-Marie-Tooth disease axonal type 2OUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr7:42005686
GRCh38:
Chr7:41966088
GLI3H995QPallister-Hall syndrome, Greig cephalopolysyndactyly syndromeUncertain significance
(Jul 25, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr11:614396
GRCh38:
Chr11:614396
IRF7G153R, G166RImmunodeficiency 39Uncertain significance
(Jul 21, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr7:75612907
GRCh38:
Chr7:75983589
PORE297D, E300D, E315DCongenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiencyUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr8:145666479
GRCh38:
Chr8:144441096
TONSLR294Lnot providedUncertain significance
(Jul 31, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr2:27447692
GRCh38:
Chr2:27224824
CADG445Anot providedUncertain significance
(Jul 22, 2022)
criteria provided, single submitter
52.
GRCh37:
ChrX:18913308
GRCh38:
ChrX:18895190
PHKA2C1095YGlycogen storage disease IXa1Uncertain significance
(Aug 8, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr16:87938447
GRCh38:
Chr16:87904841
CA5AA135VHyperammonemic encephalopathy due to carbonic anhydrase VA deficiencyUncertain significance
(Aug 8, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr2:210786282
GRCh38:
Chr2:209921558
UNC80K1730R, K1735R, K1801Rnot providedUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr12:49421876
GRCh38:
Chr12:49028093
KMT2DI4811FKabuki syndromeUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr21:47411983
GRCh38:
Chr21:45992069
COL6A1D393EBethlem myopathy 1Uncertain significance
(Jul 15, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr19:10476464
GRCh38:
Chr19:10365788
TYK2P217Q, P247QImmunodeficiency 35Uncertain significance
(Jul 21, 2022)
criteria provided, single submitter
58.
GRCh37:
ChrX:53641618
GRCh38:
ChrX:53614657
HUWE1A713Vnot providedUncertain significance
(Sep 8, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr17:10435087
GRCh38:
Chr17:10531770
MYHAS, MYH2E854QMyopathy, proximal, and ophthalmoplegiaUncertain significance
(Jul 22, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr7:146825888
GRCh38:
Chr7:147128796
CNTNAP2T348NCortical dysplasia-focal epilepsy syndromeUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr1:197093247
GRCh38:
Chr1:197124117
ASPMN1128Tnot providedUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr7:82784377
GRCh38:
Chr7:83155061
PCLOT527Knot providedUncertain significance
(Jul 22, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr17:29541558
GRCh38:
Chr17:31214540
NF1L494FNeurofibromatosis, type 1Uncertain significance
(Jul 22, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr17:40693154
GRCh38:
Chr17:42541136
NAGLUM317ICharcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis, MPS-III-BUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr6:144508396
GRCh38:
Chr6:144187259
STX11H211RFamilial hemophagocytic lymphohistiocytosis 4Uncertain significance
(Jul 22, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr3:50655161
GRCh38:
Chr3:50617730
MAPKAPK3N55Knot providedUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr6:75851792
GRCh38:
Chr6:75142076
COL12A1H1638P, H474PUllrich congenital muscular dystrophy 2, Bethlem myopathy 2Uncertain significance
(Jul 15, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr1:6021979
GRCh38:
Chr1:5961919
NPHP4C183SNephronophthisisUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr20:44671809
GRCh38:
Chr20:46043170
SLC12A5Y362N, Y385NDevelopmental and epileptic encephalopathy, 34Uncertain significance
(Jul 22, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr3:123427605
GRCh38:
Chr3:123708758
MYLKT518A, T625A, T694AAortic aneurysm, familial thoracic 7Uncertain significance
(Oct 27, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr2:48026887
GRCh38:
Chr2:47799748
MSH6Y287N, Y414N, Y459N, Y490N, Y533N, Y563N, Y589N, Y591N, Y621NHereditary nonpolyposis colorectal neoplasmsUncertain significance
(Oct 27, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr5:235408
GRCh38:
Chr5:235293
SDHAT357I, T405IParagangliomas 5, Mitochondrial complex II deficiency, nuclear type 1Uncertain significance
(Oct 27, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr20:62329879
GRCh38:
Chr20:63698526
TNFRSF6B, RTEL1-TNFRSF6BE289Gnot providedUncertain significance
(Oct 27, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr19:48901990
GRCh38:
Chr19:48398733
GRIN2DG114Anot providedUncertain significance
(Oct 27, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr7:128612506
GRCh38:
Chr7:128972452
TNPO3L738V, L753V, L754V, L755V, L766V, L802V, L829V, L836VAutosomal dominant limb-girdle muscular dystrophy type 1FUncertain significance
(Oct 27, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr6:157528801
GRCh38:
Chr6:157207667
ARID1BQ1466K, Q2105K, Q2176K, Q2216K, Q2246K, Q2259K, Q2299Knot providedUncertain significance
(Oct 27, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr2:48027844
GRCh38:
Chr2:47800705
MSH6E223Q, E606Q, E733Q, E778Q, E809Q, E852Q, E882Q, E908Q, E910Q, E940QHereditary nonpolyposis colorectal neoplasmsUncertain significance
(Oct 27, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr7:147926830
GRCh38:
Chr7:148229738
CNTNAP2S1114RCortical dysplasia-focal epilepsy syndromeUncertain significance
(Jul 22, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr8:30948034
GRCh38:
Chr8:31090518
WRNA569VWerner syndromeUncertain significance
(Oct 27, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr17:41246237
GRCh38:
Chr17:43094220
BRCA1H141Q, H269Q, H309Q, H310Q, H325Q, H326Q, H348Q, H349Q, H366Q, H367Q, H369Q, H370Q, H389Q, H390Q, H395Q, H396Q, H410Q, H411Q, H434Q, H436Q, H437QHereditary breast ovarian cancer syndromeUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr17:39925846
GRCh38:
Chr17:41769594
JUPS98GArrhythmogenic right ventricular dysplasia 12, Naxos diseaseUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr13:33635347
GRCh38:
Chr13:33061210
KLW711Rnot providedUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr20:62076642
GRCh38:
Chr20:63445289
KCNQ2R155GEarly infantile epileptic encephalopathy with suppression burstsUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr1:185984492
GRCh38:
Chr1:186015360
HMCN1S1611Cnot providedUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr4:101950340
GRCh38:
Chr4:101029183
PPP3CAA451Vnot providedUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr8:90965751
GRCh38:
Chr8:89953523
NBNL440F, L522FMicrocephaly, normal intelligence and immunodeficiencyUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr17:29528094
GRCh38:
Chr17:31201076
NF1S368CNeurofibromatosis, type 1Uncertain significance
(Oct 27, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr1:43895510
GRCh38:
Chr1:43429839
SZT2I1378V, I1435Vnot providedUncertain significance
(Jul 22, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr18:52942929
GRCh38:
Chr18:55275698
TCF4G107D, G166D, G195D, G212D, G213D, G21D, G235D, G236D, G237D, G243D, G339D, G77DPitt-Hopkins syndromeUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr4:44684402
GRCh38:
Chr4:44682385
GUF1L187Vnot providedUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr5:60839467
GRCh38:
Chr5:61543640
ZSWIM6D991Nnot providedUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
92.
GRCh37:
ChrX:15870529
GRCh38:
ChrX:15852406
AP1S2A40Vnot providedUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr15:72106402
GRCh38:
Chr15:71814061
NR2E3Q348Hnot providedUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr5:131939146
GRCh38:
Chr5:132603454
RAD50C788SHereditary cancer-predisposing syndromeUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr5:161495011
GRCh38:
Chr5:162068005
GABRG2S2RFebrile seizures, familial, 8, Epilepsy, childhood absence 2Uncertain significance
(Oct 26, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr16:3900733
GRCh38:
Chr16:3850732
CREBBPS121RRubinstein-Taybi syndromeUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr11:118353163
GRCh38:
Chr11:118482448
KMT2AV1347M, V1380Mnot providedUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr12:14794025
GRCh38:
Chr12:14641091
C12orf60, GUCY2CD687Ynot providedUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr10:73472563
GRCh38:
Chr10:71712806
C10orf105, CDH23I1121Nnot providedUncertain significance
(Jul 22, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr12:32895587
GRCh38:
Chr12:32742653
DNM1LV484I, V650I, V661I, V663I, V676I, V687I, V689I, V700Inot providedUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
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