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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
RASGRP1IMMUNODEFICIENCY 64Pathogenic
(Aug 14, 2019)
no assertion criteria providedVCV000666281
2.
RASGRP1K322*IMMUNODEFICIENCY 64Pathogenic
(Aug 14, 2019)
no assertion criteria providedVCV000666280
3.
RASGRP1T214IIMMUNODEFICIENCY 64Pathogenic
(Aug 14, 2019)
no assertion criteria providedVCV000666279
4.
RASGRP1W257*IMMUNODEFICIENCY 64Pathogenic
(Aug 14, 2019)
no assertion criteria providedVCV000666278
5.
RASGRP1R246*IMMUNODEFICIENCY 64Pathogenic
(Aug 14, 2019)
no assertion criteria providedVCV000666277
6.
POLG2G232Snot providedUncertain significance
(Aug 12, 2019)
no assertion criteria providedVCV000666255
7.
POLG2R182WMITOCHONDRIAL DNA DEPLETION SYNDROME 16 (HEPATIC TYPE)Pathogenic
(Aug 12, 2019)
no assertion criteria providedVCV000666254
8.
CST6Q121*ECTODERMAL DYSPLASIA 15, HYPOHIDROTIC/HAIR TYPEPathogenic
(Aug 12, 2019)
no assertion criteria providedVCV000666253
9.
TSC2Tuberous sclerosis 2Pathogenic
(Jul 19, 2018)
criteria provided, single submitterVCV000665473
10.
HEXATay-Sachs diseasePathogenic
(Aug 15, 2018)
criteria provided, single submitterVCV000658209
11.
IVDIsovaleryl-CoA dehydrogenase deficiencyLikely pathogenic
(Dec 24, 2018)
criteria provided, single submitterVCV000646895
12.
HEXATay-Sachs diseasePathogenic
(Aug 27, 2018)
criteria provided, single submitterVCV000645489
13.
BTDBiotinidase deficiencyUncertain significance
(Aug 15, 2018)
criteria provided, single submitterVCV000641134
14.
BTDBiotinidase deficiencyPathogenic
(Dec 10, 2018)
criteria provided, single submitterVCV000641018
15.
drug responsepractice guidelineVCV000638258
16.
drug responsepractice guidelineVCV000638257
17.
drug responsepractice guidelineVCV000638256
18.
drug responsepractice guidelineVCV000638255
19.
drug responsepractice guidelineVCV000638254
20.
drug responsepractice guidelineVCV000638253
21.
drug responsepractice guidelineVCV000638252
22.
drug responsepractice guidelineVCV000638251
23.
TONSLSponastrime dysplasiaPathogenic
(Jul 24, 2019)
no assertion criteria providedVCV000638068
24.
MTMR2Charcot-Marie-Tooth diseaseUncertain significanceno assertion criteria providedVCV000637472
25.
PTEN, ZIC2Neurodevelopmental disorderLikely pathogenic
(Apr 9, 2019)
no assertion criteria providedVCV000635927
26.
IL2RBQ96*IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITYPathogenic
(Jul 16, 2019)
no assertion criteria providedVCV000635831
27.
IL2RBS40LIMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITYPathogenic
(Jul 16, 2019)
no assertion criteria providedVCV000635830
28.
IL2RBL77PIMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITYPathogenic
(Jul 16, 2019)
no assertion criteria providedVCV000635829
29.
PDGFRAD846VPolyps, multiple and recurrent inflammatory fibroid, gastrointestinalPathogenic
(Jul 11, 2019)
no assertion criteria providedVCV000635778
30.
PDGFRAP653LPolyps, multiple and recurrent inflammatory fibroid, gastrointestinalPathogenic
(Jul 11, 2019)
no assertion criteria providedVCV000635777
31.
NOTCH1P1797HAortic valve disorderPathogenic
(Jul 14, 2006)
no assertion criteria providedVCV000635566
32.
BRCA1Ovarian NeoplasmsPathogenic
(Dec 1, 2018)
no assertion criteria providedVCV000634738
33.
BRCA1Ovarian NeoplasmsPathogenic
(Dec 1, 2018)
no assertion criteria providedVCV000634737
34.
BRCA1Ovarian NeoplasmsPathogenic
(Dec 1, 2018)
no assertion criteria providedVCV000634736
35.
BRCA1Ovarian NeoplasmsPathogenic
(Dec 1, 2018)
no assertion criteria providedVCV000634655
36.
BRCA1Ovarian NeoplasmsPathogenic
(Dec 1, 2018)
no assertion criteria providedVCV000634654
37.
BRCA1Ovarian NeoplasmsPathogenic
(Dec 1, 2018)
no assertion criteria providedVCV000634653
38.
BRCA1Ovarian NeoplasmsPathogenic
(Dec 1, 2018)
no assertion criteria providedVCV000634652
39.
drug responsepractice guidelineVCV000634387
40.
drug responsepractice guidelineVCV000634382
41.
drug responsepractice guidelineVCV000634354
42.
drug responsepractice guidelineVCV000634353
43.
drug responsepractice guidelineVCV000634352
44.
drug responsepractice guidelineVCV000634250
45.
drug responsepractice guidelineVCV000634249
46.
drug responsepractice guidelineVCV000634248
47.
drug responsepractice guidelineVCV000634245
48.
drug responsepractice guidelineVCV000634241
49.
drug responsepractice guidelineVCV000634234
50.
drug responsepractice guidelineVCV000634031
51.
drug responsepractice guidelineVCV000634030
52.
drug responsepractice guidelineVCV000634029
53.
drug responsepractice guidelineVCV000634016
54.
drug responsepractice guidelineVCV000634014
55.
drug responsepractice guidelineVCV000634004
56.
drug responsepractice guidelineVCV000633992
57.
drug responsepractice guidelineVCV000633923
58.
drug responsepractice guidelineVCV000633920
59.
drug responsepractice guidelineVCV000633911
60.
drug responsepractice guidelineVCV000633908
61.
drug responsepractice guidelineVCV000633875
62.
drug responsepractice guidelineVCV000633874
63.
drug responsepractice guidelineVCV000633873
64.
drug responsepractice guidelineVCV000633872
65.
drug responsepractice guidelineVCV000633865
66.
drug responsepractice guidelineVCV000633864
67.
PIK3C2AOCULOSKELETODENTAL SYNDROMEPathogenic
(May 21, 2019)
no assertion criteria providedVCV000631522
68.
TNNT3R63CARTHROGRYPOSIS, DISTAL, TYPE 2B2Pathogenic
(May 1, 2011)
no assertion criteria providedVCV000631472
69.
KAT6AN643SMental retardation, autosomal dominant 32Pathogenic
(May 3, 2019)
no assertion criteria providedVCV000626907
70.
ARXR2085HMental retardation, with or without seizures, ARX-related, X-linkedPathogenic
(Jul 30, 1999)
no assertion criteria providedVCV000626338
71.
MC4RV103IOBESITY, RESISTANCE TO, MELANOCORTIN 4 RECEPTOR POLYMORPHISMBenign, protective
(Apr 1, 1999)
no assertion criteria providedVCV000626337
72.
SH3KBP1Agammaglobulinemia X-linked type 2Pathogenic
(Apr 22, 2019)
no assertion criteria providedVCV000626219
73.
EXOC6BSPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 3Pathogenic
(Apr 17, 2019)
no assertion criteria providedVCV000625846
74.
RFC1Cerebellar ataxia, neuropathy, and vestibular areflexia syndromePathogenic
(Apr 18, 2019)
no assertion criteria providedVCV000625839
75.
FREM2FRASER SYNDROME 2Pathogenic
(Apr 10, 2019)
no assertion criteria providedVCV000625181
76.
TLE1D541Nnot providedUncertain significance
(Apr 5, 2019)
no assertion criteria providedVCV000625146
77.
ERCC4XFE progeroid syndromePathogenic
(Apr 4, 2019)
no assertion criteria providedVCV000625138
78.
RTTNR985GMicrocephaly, short stature, and polymicrogyria with or without seizuresPathogenic
(Apr 3, 2019)
no assertion criteria providedVCV000624635
79.
PAX5P80RAcute lymphoid leukemiaPathogenic
(Mar 27, 2019)
no assertion criteria providedVCV000624590
80.
FMR1Fragile X syndromePathogenic
(Dec 30, 2017)
criteria provided, single submitterVCV000623468
81.
RORBEpilepsy, idiopathic generalized, susceptibility to, 15risk factor
(Mar 14, 2019)
no assertion criteria providedVCV000620654
82.
MYBPC3Hypertrophic cardiomyopathyPathogenic
(Oct 31, 2018)
criteria provided, single submitterVCV000619292
83.
PUS7INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATUREPathogenic
(Mar 5, 2019)
no assertion criteria providedVCV000619232
84.
GLE1Lethal arthrogryposis with anterior horn cell diseasePathogenic
(Feb 27, 2019)
no assertion criteria providedVCV000619142
85.
IKBKGHypohidrotic ectodermal dysplasia with immune deficiencyPathogenic
(Feb 20, 2019)
no assertion criteria providedVCV000619016
86.
CUX1GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENTPathogenic
(Feb 19, 2019)
no assertion criteria providedVCV000618994
87.
POLR3ANeonatal pseudo-hydrocephalic progeroid syndromePathogenic
(Aug 1, 2015)
no assertion criteria providedVCV000617884
88.
MYORGI655TBASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVEPathogenic
(Feb 8, 2019)
no assertion criteria providedVCV000617697
89.
MLH1Lynch syndrome IPathogenic
(May 23, 2018)
criteria provided, single submitterVCV000617615
90.
CRYGSV42MMembranous cataractPathogenic
(Jan 31, 2019)
no assertion criteria providedVCV000617601
91.
DMDDuchenne muscular dystrophyLikely pathogenic
(Jun 26, 2014)
no assertion criteria providedVCV000617563
92.
PHACTR1L500PEPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70Pathogenic
(Jan 24, 2019)
no assertion criteria providedVCV000617491
93.
GRNFrontotemporal dementiaLikely pathogenic
(Feb 1, 2017)
criteria provided, single submitterVCV000617461
94.
PRG4Camptodactyly arthropathy coxa vara pericarditis syndromePathogenic
(Jan 11, 2019)
no assertion criteria providedVCV000599362
95.
DICER1D1709YGLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMORPathogenic
(Jan 8, 2019)
no assertion criteria providedVCV000599262
96.
DICER1D1713VGLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMORPathogenic
(Jan 8, 2019)
no assertion criteria providedVCV000599261
97.
IRF2BPLNEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURESPathogenic
(Apr 10, 2019)
no assertion criteria providedVCV000599203
98.
HYOU1R419PGranulocytopenia with immunoglobulin abnormalityPathogenic
(Dec 20, 2018)
no assertion criteria providedVCV000599201
99.
HYOU1Y231HGranulocytopenia with immunoglobulin abnormalityPathogenic
(Dec 20, 2018)
no assertion criteria providedVCV000599200
100.
TBR1N374HAutism 5Pathogenic
(Dec 19, 2018)
no assertion criteria providedVCV000599051
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