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Items: 1 to 100 of 12033

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr1:11856378
GRCh38:
Chr1:11796321
MTHFRA222V, A263VHyperhomocystinemia, Malabsorption, Yellow subcutaneous tissue covered by thin, scaly skin,
Thin upper lip vermilion, Narrow mouth, Delayed speech and language development,
Restlessness, Abnormality of metabolism/homeostasis, Autistic behavior,
Micrognathia, Profound global developmental delayAbnormality of mitochondrial metabolism,
not specified, MTHFR deficiency, thermolabile type, not provided,
Neoplasm of stomach, Sacral meningocele, methotrexate response - Dosage, Efficacy, Toxicity/ADR,
cyclophosphamide response - Toxicity/ADR, carboplatin response - Efficacy, Gastrointestinal stromal tumor,
Neural tube defects, folate-sensitive, Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Venous thrombosis,
...see more
drug response
(May 14, 2018)
reviewed by expert panelVCV000003520
2.
GRCh37:
Chr1:29145188
GRCh38:
Chr1:28818676
OPRD1buprenorphine response - Efficacydrug responsereviewed by expert panelVCV000635265
3.
GRCh37:
Chr1:41285030
GRCh38:
Chr1:40819358
KCNQ4not specified, Nonsyndromic hearing loss and deafnessLikely benign
(Sep 28, 2018)
reviewed by expert panel
FDA Recognized Database
VCV000227469
4.
GRCh37:
Chr1:41285111-41285113
GRCh38:
Chr1:40819439-40819441
KCNQ4S269delAutosomal dominant nonsyndromic deafness 2A, Nonsyndromic hearing loss and deafness, not provided,
not specified
Likely pathogenic
(Nov 26, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000208366
5.
GRCh37:
Chr1:41285135
GRCh38:
Chr1:40819463
KCNQ4W275CNonsyndromic hearing loss and deafness, not specifiedLikely pathogenic
(Sep 10, 2018)
reviewed by expert panel
FDA Recognized Database
VCV000505302
6.
GRCh37:
Chr1:41285565
GRCh38:
Chr1:40819893
KCNQ4G285SRare genetic deafness, Nonsyndromic hearing loss and deafness, Autosomal dominant nonsyndromic deafness 2A
Pathogenic
(Sep 11, 2018)
reviewed by expert panel
FDA Recognized Database
VCV000006241
7.
GRCh37:
Chr1:78956432
GRCh38:
Chr1:78490747
PTGFRlatanoprost response - Efficacydrug response
(Jan 21, 2015)
reviewed by expert panelVCV000225991
8.
GRCh37:
Chr1:97544627
GRCh38:
Chr1:97079071
DPYDV995Ffluorouracil response - Otherdrug responsereviewed by expert panelVCV000635267
9.
GRCh37:
Chr1:97547947
GRCh38:
Chr1:97082391
DPYDD949VDihydropyrimidine dehydrogenase deficiency, Fluorouracil response, capecitabine response - Toxicity/ADR, Metabolism/PK,
fluorouracil response - Toxicity/ADR, Metabolism/PK, Pyrimidine analogues response - Toxicity/ADR, Metabolism/PK, tegafur response - Toxicity/ADR, Metabolism/PK,
not provided, Inborn genetic diseases
drug response
(May 14, 2018)
reviewed by expert panelVCV000088974
10.
GRCh37:
Chr1:97915614
GRCh38:
Chr1:97450058
DPYDFluorouracil response, capecitabine response - Toxicity/ADR, Metabolism/PK, fluorouracil response - Toxicity/ADR, Metabolism/PK,
Pyrimidine analogues response - Toxicity/ADR, Metabolism/PK, tegafur response - Toxicity/ADR, Metabolism/PK, Hirschsprung disease 1,
Thick lower lip vermilion, Frontal bossing, Mandibular prognathia,
2-3 toe syndactyly, Global developmental delayCognitive impairment,
Bulbous nose, Abnormal aggressive, impulsive or violent behavior, Autistic disorder of childhood onset,
Coarse facial features, Hallux valgus, Aggressive behavior,
Seizures, Profound global developmental delay, Shortening of all phalanges of fingers,
Slit-like opening of the exterior auditory meatus, Clinodactyly of the 5th toe, Widely spaced teeth,
Macroglossia, Intellectual disability, profound, Short toe,
Intellectual disability, not provided, Dihydropyrimidine dehydrogenase deficiency,
...see more
drug response
(May 14, 2018)
reviewed by expert panelVCV000000432
11.
GRCh37:
Chr1:97915622
GRCh38:
Chr1:97450066
DPYDP633fsfluorouracil response - Otherdrug responsereviewed by expert panelVCV000635266
12.
GRCh37:
Chr1:97981343
GRCh38:
Chr1:97515787
DPYDI560Snot provided, Dihydropyrimidine dehydrogenase deficiency, capecitabine response - Toxicity/ADR,
fluorouracil response - Toxicity/ADR, tegafur response - Toxicity/ADR, Pyrimidine analogues response - Toxicity/ADR
drug response
(Jan 11, 2018)
reviewed by expert panelVCV000088975
13.
GRCh37:
Chr1:98045449
GRCh38:
Chr1:97579893
DPYDcapecitabine response - Toxicity/ADR, fluorouracil response - Toxicity/ADRdrug responsereviewed by expert panelVCV000635263
14.
GRCh37:
Chr1:98157332
GRCh38:
Chr1:97691776
DPYDR235WDihydropyrimidine dehydrogenase deficiency, fluorouracil response - Otherdrug responsereviewed by expert panelVCV000298300
15.
GRCh37:
Chr1:98165030
GRCh38:
Chr1:97699474
DPYDY186CDihydropyrimidine dehydrogenase deficiency, fluorouracil response - Toxicity/ADR, not provided
drug responsereviewed by expert panelVCV000100113
16.
GRCh37:
Chr1:98205967-98205970
GRCh38:
Chr1:97740411-97740414
DPYDDihydropyrimidine dehydrogenase deficiency, fluorouracil response - Otherdrug responsereviewed by expert panelVCV000495550
17.
GRCh37:
Chr1:154548880
GRCh38:
Chr1:154576404
CHRNB2nicotine response - Efficacy, Toxicity/ADRdrug response
(Dec 5, 2017)
reviewed by expert panelVCV000375660
18.
GRCh37:
Chr1:155279482
GRCh38:
Chr1:155309691
FDPSBisphosphonates response - Efficacydrug response
(Jun 22, 2016)
reviewed by expert panelVCV000225973
19.
GRCh37:
Chr1:161479745
GRCh38:
Chr1:161509955
FCGR2AR131H, H166R, H167RPseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis, Lupus nephritis, susceptibility to, Malaria, severe, susceptibility to,
not specified, trastuzumab response - Efficacy
drug response
(Nov 25, 2014)
reviewed by expert panelVCV000014823
20.
GRCh37:
Chr1:161514542
GRCh38:
Chr1:161544752
FCGR3AF176V, F281V, F175V, F280Vnot specified, rituximab response - Efficacy, trastuzumab response - Efficacy
drug response
(Jul 11, 2016)
reviewed by expert panelVCV000225994
21.
GRCh37:
Chr1:169519049
GRCh38:
Chr1:169549811
F5Factor V deficiency, not provided, hormonal contraceptives for systemic use response - Toxicity/ADR
drug response
(Nov 28, 2017)
reviewed by expert panelVCV000226007
22.
GRCh37:
Chr1:201029943
GRCh38:
Chr1:201060815
CACNA1SR1086Ldesflurane response - Toxicity/ADR, enflurane response - Toxicity/ADR, sevoflurane response - Toxicity/ADR,
succinylcholine response - Toxicity/ADR, isoflurane response - Toxicity/ADR, methoxyflurane response - Toxicity/ADR,
halothane response - Toxicity/ADR
drug responsereviewed by expert panelVCV000635264
23.
GRCh37:
Chr1:201061121
GRCh38:
Chr1:201091993
CACNA1SR174WHypokalemic periodic paralysis 1, Malignant hyperthermia, susceptibility to, 5, not provided,
Hypokalemic periodic paralysis 1, desflurane response - Toxicity/ADR, halothane response - Toxicity/ADR,
isoflurane response - Toxicity/ADR, methoxyflurane response - Toxicity/ADR, sevoflurane response - Toxicity/ADR,
succinylcholine response - Toxicity/ADR, enflurane response - Toxicity/ADR ...see more
drug responsereviewed by expert panelVCV000575733
24.
GRCh37:
Chr1:215799170
GRCh38:
Chr1:215625828
USH2AS5188GUsher syndrome, not specified, Usher syndrome, type 2A
Benign
(Sep 17, 2018)
reviewed by expert panel
FDA Recognized Database
VCV000048468
25.
GRCh37:
Chr1:215802181
GRCh38:
Chr1:215628839
USH2AA5165GUsher syndrome, not providedLikely benign
(Sep 28, 2018)
reviewed by expert panel
FDA Recognized Database
VCV000282144
26.
GRCh37:
Chr1:215802242
GRCh38:
Chr1:215628900
USH2AV5145Inot provided, Usher syndrome, not specified,
Retinitis pigmentosa
Benign
(Jan 14, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000048464
27.
GRCh37:
Chr1:215807798
GRCh38:
Chr1:215634456
USH2AUsher syndrome, not specified, not provided
Benign
(Sep 14, 2018)
reviewed by expert panel
FDA Recognized Database
VCV000048459
28.
GRCh37:
Chr1:215822033
GRCh38:
Chr1:215648691
USH2AA4807Tnot specified, not provided, Usher syndrome,
Usher syndrome, type 2A, Retinitis pigmentosa 39
Uncertain significance
(Sep 28, 2018)
reviewed by expert panel
FDA Recognized Database
VCV000198366
29.
GRCh37:
Chr1:215824001
GRCh38:
Chr1:215650659
USH2AG4759Enot provided, Usher syndrome, Retinitis pigmentosa,
Usher syndrome, type 2A, Retinitis pigmentosa 39, not specified
Likely benign
(May 14, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000177913
30.
GRCh37:
Chr1:215844314-215848958
GRCh38:
Chr1:215670972-215675616
USH2Anot provided, Usher syndrome, Rare genetic deafness
Likely pathogenic
(Sep 19, 2018)
reviewed by expert panel
FDA Recognized Database
VCV000177859
31.
GRCh37:
Chr1:215847857
GRCh38:
Chr1:215674515
USH2AP4466SRetinitis pigmentosa, Retinitis pigmentosa 39, Usher syndrome, type 2A,
Usher syndrome, not specified, not provided
Uncertain significance
(Mar 25, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000048417
32.
GRCh37:
Chr1:215848036
GRCh38:
Chr1:215674694
USH2AL4406PUsher syndrome, type 2A, Retinal dystrophy, Usher syndrome, type 2A,
Retinitis pigmentosa 39, Usher syndrome
Uncertain significance
(May 20, 2020)
reviewed by expert panel
FDA Recognized Database
VCV000556334
33.
GRCh37:
Chr1:215848678
GRCh38:
Chr1:215675336
USH2AR4192HUsher syndrome, not specified, not provided,
Retinitis pigmentosa 39, Retinitis pigmentosa, Usher syndrome, type 2A,
Retinal dystrophy
Benign
(Mar 19, 2020)
reviewed by expert panel
FDA Recognized Database
VCV000166434
34.
GRCh37:
Chr1:215848679
GRCh38:
Chr1:215675337
USH2AR4192CRetinitis pigmentosa 39, Retinitis pigmentosa 39, Usher syndrome, type 2A,
Retinitis pigmentosa, Usher syndrome, not provided,
Retinal dystrophy
Uncertain significance
(Jan 21, 2020)
reviewed by expert panel
FDA Recognized Database
VCV000281818
35.
GRCh37:
Chr1:215848748
GRCh38:
Chr1:215675406
USH2AT4169AUsher syndrome, Retinitis pigmentosa, Usher syndrome, type 2A,
Retinitis pigmentosa 39, not provided, Retinal dystrophy,
not specified
Likely benign
(Feb 25, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000166435
36.
GRCh37:
Chr1:215848961
GRCh38:
Chr1:215675619
USH2Anot provided, Usher syndrome, not specified,
Retinal dystrophy, Retinitis pigmentosa 39
Likely pathogenic
(Oct 23, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000048395
37.
GRCh37:
Chr1:215932085
GRCh38:
Chr1:215758743
USH2AY3747*not provided, Rare genetic deafness, Usher syndrome
Pathogenic
(Sep 17, 2018)
reviewed by expert panel
FDA Recognized Database
VCV000506273
38.
GRCh37:
Chr1:215972286
GRCh38:
Chr1:215798944
USH2AC3307WUsher syndrome, Usher syndrome type 1, not provided,
Usher syndrome, type 2A, Retinitis pigmentosa 39
Uncertain significance
(Oct 23, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000226441
39.
GRCh37:
Chr1:216040521
GRCh38:
Chr1:215867179
USH2Anot provided, Retinal dystrophy, Retinitis pigmentosa 39,
Usher syndrome
Pathogenic
(Sep 24, 2018)
reviewed by expert panel
FDA Recognized Database
VCV000197510
40.
GRCh37:
Chr1:216051224
GRCh38:
Chr1:215877882
USH2AUsher syndrome, Retinitis pigmentosa, Retinal dystrophy,
Retinitis pigmentosa 39, Usher syndrome, type 2A, Rare genetic deafness,
not provided, Retinitis pigmentosa 39, Usher syndrome, type 2A
Pathogenic
(Oct 9, 2018)
reviewed by expert panel
FDA Recognized Database
VCV000048604
41.
GRCh37:
Chr1:216052344
GRCh38:
Chr1:215879002
USH2AA2774Tnot specified, Retinal dystrophy, Retinitis pigmentosa 39,
Usher syndrome, type 2A, Usher syndrome, not provided
Likely benign
(Mar 25, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000048597
42.
GRCh37:
Chr1:216061814
GRCh38:
Chr1:215888472
USH2AG2726EUsher syndrome, type 2A, Retinitis pigmentosa 39, Usher syndrome,
not specified
Uncertain significance
(Sep 28, 2018)
reviewed by expert panel
FDA Recognized Database
VCV000179542
43.
GRCh37:
Chr1:216074214
GRCh38:
Chr1:215900872
USH2AS2445Fnot specified, not provided, Usher syndrome,
Retinitis pigmentosa, Usher syndrome, type 2A, Retinitis pigmentosa 39
Benign
(Mar 18, 2020)
reviewed by expert panel
FDA Recognized Database
VCV000048581
44.
GRCh37:
Chr1:216108091
GRCh38:
Chr1:215934749
USH2AUsher syndrome, not providedLikely benign
(May 26, 2020)
reviewed by expert panel
FDA Recognized Database
VCV000681822
45.
GRCh37:
Chr1:216166437
GRCh38:
Chr1:215993095
USH2AV2244Mnot provided, Usher syndrome, Retinitis pigmentosa 39,
Usher syndrome, type 2A, not specified, Retinitis pigmentosa
Uncertain significance
(May 26, 2020)
reviewed by expert panel
FDA Recognized Database
VCV000166479
46.
GRCh37:
Chr1:216173784
GRCh38:
Chr1:216000442
USH2AP2149QRetinitis pigmentosa, Usher syndrome, Usher syndrome, type 2A,
Retinal dystrophy
Likely pathogenic
(May 26, 2020)
reviewed by expert panel
FDA Recognized Database
VCV000224753
47.
GRCh37:
Chr1:216246229
GRCh38:
Chr1:216072887
USH2A, USH2A-AS2not provided, Rare genetic deafness, Usher syndrome,
Retinitis pigmentosa 39, Retinal dystrophy, USH2A-Related Disorders
Likely pathogenic
(Oct 29, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000048544
48.
GRCh37:
Chr1:216246634
GRCh38:
Chr1:216073292
USH2A, USH2A-AS2G1861Snot provided, Usher syndrome, Usher syndrome, type 2A,
Retinitis pigmentosa 39, Rare genetic deafness, Retinal dystrophy
Pathogenic
(Sep 14, 2018)
reviewed by expert panel
FDA Recognized Database
VCV000048535
49.
GRCh37:
Chr1:216251487
GRCh38:
Chr1:216078145
USH2A, USH2A-AS2V1839ERetinitis pigmentosa 39, Usher syndrome, Usher syndrome, type 2A,
not provided, Retinal dystrophy
Uncertain significance
(Feb 25, 2020)
reviewed by expert panel
FDA Recognized Database
VCV000265979
50.
GRCh37:
Chr1:216258168
GRCh38:
Chr1:216084826
USH2A, USH2A-AS2K1680Rnot provided, Usher syndrome, not specified
Uncertain significance
(Sep 28, 2018)
reviewed by expert panel
FDA Recognized Database
VCV000166499
51.
GRCh37:
Chr1:216258195
GRCh38:
Chr1:216084853
USH2A, USH2A-AS2G1671Dnot provided, Usher syndrome, Retinitis pigmentosa,
not specified
Uncertain significance
(Oct 22, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000179773
52.
GRCh37:
Chr1:216348710-216348711
GRCh38:
Chr1:216175368-216175369
USH2ARetinitis pigmentosa, Usher syndrome, Usher syndrome, type 2A,
Retinitis pigmentosa 39, Rare genetic deafness, not provided,
Retinal dystrophy
Pathogenic
(Sep 10, 2018)
reviewed by expert panel
FDA Recognized Database
VCV000166504
53.
GRCh37:
Chr1:216363622-216363623
GRCh38:
Chr1:216190280-216190281
USH2AUsher syndrome, Retinal dystrophy, Retinitis pigmentosa 39,
USH2A-Related Disorders, not provided, Usher syndrome, type 2A
Pathogenic
(Sep 25, 2018)
reviewed by expert panel
FDA Recognized Database
VCV000002353
54.
GRCh37:
Chr1:216371836
GRCh38:
Chr1:216198494
USH2A, USH2A-AS1G1301VUsher syndrome, type 2A, Usher syndrome, Usher syndrome type 1,
not provided, Retinitis pigmentosa, not specified
Benign
(Mar 13, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000048509
55.
GRCh37:
Chr1:216373232-216373233
GRCh38:
Chr1:216199890-216199891
USH2A, USH2A-AS1Retinitis pigmentosa 39, Usher syndrome, type 2A, USH2A-Related Disorders,
Rare genetic deafness, Usher syndrome
Likely pathogenic
(Jan 30, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000048503
56.
GRCh37:
Chr1:216373373
GRCh38:
Chr1:216200031
USH2A, USH2A-AS1S1136Nnot provided, Usher syndrome, Retinitis pigmentosa 39,
Usher syndrome, type 2A, Cone-rod dystrophy, Usher syndrome, type 2A
Likely pathogenic
(Jan 21, 2020)
reviewed by expert panel
FDA Recognized Database
VCV000133312
57.
GRCh37:
Chr1:216420214
GRCh38:
Chr1:216246872
USH2AS841Ynot specified, Hearing impairment, not provided,
Retinitis pigmentosa, Usher syndrome, type 2A, Progressive cone dystrophy (without rod involvement)
Benign
(Jan 11, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000048487
58.
GRCh37:
Chr1:216420460
GRCh38:
Chr1:216247118
USH2AC759FInborn genetic diseases, Retinitis pigmentosa, Usher syndrome,
Retinitis pigmentosa 39, USH2A-Related Disorders, not provided,
Retinal dystrophy, Usher syndrome, type 2A
Pathogenic
(Jul 28, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000002356
59.
GRCh37:
Chr1:216424331
GRCh38:
Chr1:216250989
USH2AC694YRetinal dystrophy, not provided, Usher syndrome
Likely pathogenic
(Jan 21, 2020)
reviewed by expert panel
FDA Recognized Database
VCV000418533
60.
GRCh37:
Chr1:216462627
GRCh38:
Chr1:216289285
USH2AD656Nnot specified, not provided, Retinitis pigmentosa,
Usher syndrome, Usher syndrome, type 2A, Congenital cerebellar hypoplasia,
Joubert syndrome, Amblyopia, Congenital sensorineural hearing impairment,
Delayed speech and language development, Hypoplasia of the brainstemCerebellar hemisphere hypoplasia,
Motor delay, Retinal dystrophy, ...see more
Likely benign
(May 25, 2020)
reviewed by expert panel
FDA Recognized Database
VCV000048481
61.
GRCh37:
Chr1:216462734
GRCh38:
Chr1:216289392
USH2AC620FUsher syndrome, Retinitis pigmentosa 39, Usher syndrome, type 2A,
not provided, Usher syndrome, type 2A
Likely pathogenic
(Feb 25, 2020)
reviewed by expert panel
FDA Recognized Database
VCV000549981
62.
GRCh37:
Chr1:216498754
GRCh38:
Chr1:216325412
USH2AN346HUsher syndrome, type 2A, Rare genetic deafness, Retinal dystrophy,
Usher syndrome, Retinitis pigmentosa 39, not provided
Pathogenic
(Sep 14, 2018)
reviewed by expert panel
FDA Recognized Database
VCV000048347
63.
GRCh37:
Chr1:216498834
GRCh38:
Chr1:216325492
USH2AC319YRare genetic deafness, not provided, Retinal dystrophy,
Usher syndrome, type 2A, Usher syndrome
Likely pathogenic
(Aug 27, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000002355
64.
GRCh37:
Chr1:226019633
GRCh38:
Chr1:225831932
EPHX1Y113HEPOXIDE HYDROLASE 1 POLYMORPHISM, Cystic fibrosis, carbamazepine response - Dosage
drug response
(Jan 21, 2016)
reviewed by expert panelVCV000016604
65.
GRCh37:
Chr1:226026406
GRCh38:
Chr1:225838705
EPHX1H139REPOXIDE HYDROLASE 1 POLYMORPHISM, carbamazepine response - Dosagedrug response
(Jan 20, 2016)
reviewed by expert panelVCV000016605
66.
GRCh37:
Chr2:39212961
GRCh38:
Chr2:38985820
SOS1not specified, Rasopathy, Noonan syndrome 4,
not provided, Gingival fibromatosis 1
Benign
(Nov 4, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000177950
67.
GRCh37:
Chr2:39213258
GRCh38:
Chr2:38986117
SOS1P1237Tnot specified, RasopathyLikely benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000045367
68.
GRCh37:
Chr2:39213264
GRCh38:
Chr2:38986123
SOS1P1235Snot specified, Primary familial hypertrophic cardiomyopathy, Rasopathy
Uncertain significance
(Oct 7, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000045366
69.
GRCh37:
Chr2:39213309
GRCh38:
Chr2:38986168
SOS1V1220MGingival fibromatosis 1, Noonan syndrome 4, Rasopathy
Likely benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000448938
70.
GRCh37:
Chr2:39213367
GRCh38:
Chr2:38986226
SOS1D1200ENoonan syndrome and Noonan-related syndrome, not provided, Rasopathy
Likely benign
(Jun 27, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000040733
71.
GRCh37:
Chr2:39213415
GRCh38:
Chr2:38986274
SOS1RasopathyBenign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000448939
72.
GRCh37:
Chr2:39216404
GRCh38:
Chr2:38989263
SOS1Rasopathy, Noonan syndrome, Noonan syndrome 4,
not specified, not provided, Gingival fibromatosis 1
Benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000045362
73.
GRCh37:
Chr2:39222280
GRCh38:
Chr2:38995139
SOS1not specified, RasopathyLikely benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000448940
74.
GRCh37:
Chr2:39222288
GRCh38:
Chr2:38995147
SOS1D1108Nnot specified, not provided, Rasopathy
Likely benign
(Jun 25, 2020)
reviewed by expert panel
FDA Recognized Database
VCV000240197
75.
GRCh37:
Chr2:39222324
GRCh38:
Chr2:38995183
SOS1S1096TRasopathy, Gingival fibromatosis 1, Noonan syndrome 4,
B-Lymphoblastic Leukemia/Lymphoma with Intrachromosomal Amplification of Chromosome 21, not specified
Uncertain significance
(Mar 19, 2020)
reviewed by expert panel
FDA Recognized Database
VCV000477722
76.
GRCh37:
Chr2:39224072
GRCh38:
Chr2:38996931
SOS1Rasopathy, not specifiedBenign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000448941
77.
GRCh37:
Chr2:39224112
GRCh38:
Chr2:38996971
SOS1N1011SRasopathy, Noonan syndrome, Noonan syndrome 4,
not specified, Gingival fibromatosis 1
Benign
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000040716
78.
GRCh37:
Chr2:39224147
GRCh38:
Chr2:38997006
SOS1Rasopathy, not specifiedBenign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000040714
79.
GRCh37:
Chr2:39224156
GRCh38:
Chr2:38997015
SOS1Rasopathy, not specifiedBenign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000040713
80.
GRCh37:
Chr2:39233584
GRCh38:
Chr2:39006443
SOS1Rasopathy, Noonan syndrome 4, not specified,
Gingival fibromatosis 1
Benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000040708
81.
GRCh37:
Chr2:39233616
GRCh38:
Chr2:39006475
SOS1D910HRasopathy, not specified, not provided
Uncertain significance
(Nov 4, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000290125
82.
GRCh37:
Chr2:39234158
GRCh38:
Chr2:39007017
SOS1Gingival fibromatosis 1, Rasopathy, Noonan syndrome,
Hypertrophic cardiomyopathy, Noonan syndrome 4, not specified
Benign
(Aug 27, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000045353
83.
GRCh37:
Chr2:39234309
GRCh38:
Chr2:39007168
SOS1E846Knot provided, Noonan syndrome, Rasopathy,
Noonan syndrome 4, Gingival fibromatosis 1
Pathogenic
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000040706
84.
GRCh37:
Chr2:39239286
GRCh38:
Chr2:39012145
SOS1L791IMedulloblastoma, Rasopathy, not provided,
not specified, Noonan syndrome 4, Acute monocytic leukemia,
Acute monoblastic leukemia, Gingival fibromatosis 1
Benign
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000040702
85.
GRCh37:
Chr2:39239419
GRCh38:
Chr2:39012278
SOS1Rasopathy, not specifiedBenign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000139228
86.
GRCh37:
Chr2:39240595
GRCh38:
Chr2:39013454
SOS1Rasopathy, Noonan syndrome 4, Gingival fibromatosis 1,
not provided, not specified
Benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000045350
87.
GRCh37:
Chr2:39240612
GRCh38:
Chr2:39013471
SOS1G719Anot provided, RasopathyLikely benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000040698
88.
GRCh37:
Chr2:39240646
GRCh38:
Chr2:39013505
SOS1A708Tnot provided, Rasopathy, Noonan syndrome,
Noonan syndrome 4, not specified, Gingival fibromatosis 1,
Dilated cardiomyopathy, Cardiomyopathy, Hypertrophic cardiomyopathy
Benign
(Apr 3, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000040697
89.
GRCh37:
Chr2:39241061
GRCh38:
Chr2:39013920
SOS1L670FRasopathyBenign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000448942
90.
GRCh37:
Chr2:39241107
GRCh38:
Chr2:39013966
SOS1P655LArrhythmogenic right ventricular cardiomyopathy, Rasopathy, Noonan syndrome 4,
not specified
Benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000040692
91.
GRCh37:
Chr2:39241977-39241979
GRCh38:
Chr2:39014836-39014838
SOS1Noonan syndrome and Noonan-related syndromeUncertain significance
(Feb 28, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000636263
92.
GRCh37:
Chr2:39241979
GRCh38:
Chr2:39014838
SOS1F623INoonan syndrome 1, Abnormal facial shape, Global developmental delay,
Pulmonic stenosis (disease), Epicanthus, Noonan syndrome and Noonan-related syndrome
Likely pathogenic
(Feb 28, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000636262
93.
GRCh37:
Chr2:39249797
GRCh38:
Chr2:39022656
SOS1N591Snot specified, RasopathyBenign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000448943
94.
GRCh37:
Chr2:39249799
GRCh38:
Chr2:39022658
SOS1Rasopathy, not specified, not provided
Benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000040687
95.
GRCh37:
Chr2:39249864
GRCh38:
Chr2:39022723
SOS1L569VRasopathy, Noonan syndrome 1, not specified
Likely benign
(Apr 18, 2017)
reviewed by expert panel
FDA Recognized Database
VCV000040686
96.
GRCh37:
Chr2:39249903
GRCh38:
Chr2:39022762
SOS1V556Inot provided, RasopathyUncertain significance
(Mar 9, 2020)
reviewed by expert panel
FDA Recognized Database
VCV000561347
97.
GRCh37:
Chr2:39249913
GRCh38:
Chr2:39022772
SOS1R552SNoonan syndrome and Noonan-related syndrome, not provided, Noonan syndrome,
Rasopathy, Noonan syndrome 4, Gingival fibromatosis 1
Pathogenic
(May 10, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000040684
98.
GRCh37:
Chr2:39249913
GRCh38:
Chr2:39022772
SOS1R552Snot provided, Rasopathy, Noonan syndrome,
Noonan syndrome 4, Gingival fibromatosis 1, Noonan syndrome and Noonan-related syndrome,
Noonan syndrome 1, Noonan syndrome 4
Pathogenic
(May 10, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000012872
99.
GRCh37:
Chr2:39249914
GRCh38:
Chr2:39022773
SOS1R552Knot provided, Noonan syndrome, Noonan syndrome 1,
Noonan syndrome 4, Rasopathy, Noonan syndrome 3
Pathogenic
(May 10, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000040683
100.
GRCh37:
Chr2:39249914
GRCh38:
Chr2:39022773
SOS1R552TAbnormality of the aortic valve, not provided, Noonan syndrome,
Rasopathy
Pathogenic
(May 10, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000040682
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