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Items: 1 to 100 of 6577

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr1:957605
GRCh38:
Chr1:1022225
AGRNG76SMyasthenic syndrome, congenital, 8, Congenital myasthenic syndromeLikely pathogenic
(Sep 9, 2020)
criteria provided, single submitterVCV000243036
2.
GRCh37:
Chr1:957693
GRCh38:
Chr1:1022313
AGRNN105ICongenital myasthenic syndromePathogenic
(Jul 14, 2016)
no assertion criteria providedVCV000243037
3.
GRCh37:
Chr1:976962
GRCh38:
Chr1:1041582
AGRNQ353*, Q248*Myasthenic syndrome, congenital, 8, Congenital myasthenic syndromePathogenic
(Jul 14, 2016)
no assertion criteria providedVCV000126556
4.
GRCh37:
Chr1:977516-977517
GRCh38:
Chr1:1042136-1042137
AGRNS350fs, S455fsCongenital myasthenic syndromePathogenic
(Jul 14, 2016)
no assertion criteria providedVCV000243038
5.
GRCh37:
Chr1:985853
GRCh38:
Chr1:1050473
AGRNG1675S, G1570SCongenital myasthenic syndromePathogenic
(Jul 14, 2016)
no assertion criteria providedVCV000243039
6.
GRCh37:
Chr1:985955
GRCh38:
Chr1:1050575
AGRNG1709R, G1604RMyasthenic syndrome, congenital, 8, Congenital myasthenic syndromePathogenic
(Jul 14, 2016)
no assertion criteria providedVCV000018241
7.
GRCh37:
Chr1:986143
GRCh38:
Chr1:1050763
AGRNV1727F, V1622FMyasthenic syndrome, congenital, 8, Congenital myasthenic syndromePathogenic
(Jul 14, 2016)
no assertion criteria providedVCV000126555
8.
GRCh37:
Chr1:987155
GRCh38:
Chr1:1051775
AGRNG1871R, G1770R, G1875RMyasthenic syndrome, congenital, 8, Congenital myasthenic syndromeUncertain significance
(Dec 6, 2019)
criteria provided, single submitterVCV000243040
9.
GRCh37:
Chr1:1273381
GRCh38:
Chr1:1338001
DVL1S539fs, S564fsRobinow syndrome, autosomal dominant 2Pathogenic
(Mar 26, 2015)
criteria provided, single submitterVCV000208047
10.
GRCh37:
Chr1:1273413-1273420
GRCh38:
Chr1:1338033-1338040
DVL1P551fs, P526fsRobinow syndrome, autosomal dominant 2Pathogenic
(Jul 30, 2015)
no assertion criteria providedVCV000208050
11.
GRCh37:
Chr1:1273425-1273426
GRCh38:
Chr1:1338045-1338046
DVL1F524fs, F549fsRobinow syndrome, autosomal dominant 2Pathogenic
(Mar 26, 2015)
criteria provided, single submitterVCV000208043
12.
GRCh37:
Chr1:1273434
GRCh38:
Chr1:1338054
DVL1P521fs, P546fsRobinow syndrome, autosomal dominant 2Pathogenic
(Jul 30, 2015)
no assertion criteria providedVCV000208049
13.
GRCh37:
Chr1:1273467
GRCh38:
Chr1:1338087
DVL1G535fs, G510fsRobinow syndrome, autosomal dominant 2Pathogenic
(Mar 26, 2015)
criteria provided, single submitterVCV000208048
14.
GRCh37:
Chr1:1273477
GRCh38:
Chr1:1338097
DVL1W507fs, W532fsRobinow syndrome, autosomal dominant 2Pathogenic
(Oct 2, 2021)
criteria provided, single submitterVCV000208045
15.
GRCh37:
Chr1:1273479-1273491
GRCh38:
Chr1:1338099-1338111
DVL1H502fs, H527fsRobinow syndrome, autosomal dominant 2Pathogenic
(Jun 1, 2017)
criteria provided, single submitterVCV000208044
16.
GRCh37:
Chr1:1273488
GRCh38:
Chr1:1338108
DVL1P503fs, P528fsRobinow syndrome, autosomal dominant 2Pathogenic
(Mar 26, 2015)
criteria provided, single submitterVCV000208046
17.
GRCh37:
Chr1:1720681
GRCh38:
Chr1:1789242
GNB1T143A, T243AMental retardation, autosomal dominant 42Pathogenic
(Feb 26, 2020)
no assertion criteria providedVCV000995963
18.
GRCh37:
Chr1:1735935
GRCh38:
Chr1:1804496
GNB1D118G, D18GMental retardation, autosomal dominant 42, Inborn genetic diseasesPathogenic
(Jul 29, 2016)
criteria provided, single submitterVCV000521213
19.
GRCh37:
Chr1:1735936
GRCh38:
Chr1:1804497
GNB1D118Y, D18YBehavioral abnormality, Dystonia, Mental retardation, autosomal dominant 42,
not provided
Pathogenic
(May 27, 2020)
criteria provided, single submitterVCV000812755
20.
GRCh37:
Chr1:1735987
GRCh38:
Chr1:1804548
GNB1M101V, M1VMental retardation, autosomal dominant 42, not provided, Seizures,
Neurodevelopmental Disability, Hypotonia, Global developmental delay,
Developmental regression, Focal impaired awareness seizure, Expressive language delay,
Seizures, Muscular hypotoniaGeneralized tonic-clonic seizures,
Multifocal epileptiform discharges, EEG with generalized epileptiform discharges, Intellectual disability,
...see more
Pathogenic/Likely pathogenic
(Mar 8, 2021)
criteria provided, multiple submitters, no conflictsVCV000224717
21.
GRCh37:
Chr1:1736001
GRCh38:
Chr1:1804562
GNB1R96LMental retardation, autosomal dominant 42Pathogenic
(Nov 3, 2021)
no assertion criteria providedVCV000995962
22.
GRCh37:
Chr1:1736004
GRCh38:
Chr1:1804565
GNB1L95PMental retardation, autosomal dominant 42, Microcephaly, Seizures,
Neurodevelopmental Disability, Hypotonia, Global developmental delay,
Nystagmus, Cerebral visual impairment, Expressive language delay,
Seizures, Muscular hypotoniaMultifocal epileptiform discharges,
Growth delay, Intellectual disability, Failure to thrive,
Feeding difficulties, Limb hypertonia, Inability to walk,
Strabismus, ...see more
Likely pathogeniccriteria provided, single submitterVCV000224716
23.
GRCh37:
Chr1:1737942
GRCh38:
Chr1:1806503
GNB1I80NAcute lymphoid leukemia, Mental retardation, autosomal dominant 42, not provided,
Seizures, Neurodevelopmental Disability, Hypotonia,
Global developmental delay, Focal impaired awareness seizure, Cerebral visual impairment,
Seizures, Muscular hypotoniaInfantile muscular hypotonia,
Multifocal epileptiform discharges, Growth delay, Failure to thrive,
Feeding difficulties, Limb hypertonia, ...see more
Pathogenic
(Oct 2, 2021)
criteria provided, multiple submitters, no conflictsVCV000224715
24.
GRCh37:
Chr1:1737942
GRCh38:
Chr1:1806503
GNB1I80TUpper limb hypertonia, Dystonia, Infantile axial hypotonia,
Cleft palate, Hypothyroidism, Growth delay,
Intellectual disability, Global developmental delay, Myelodysplastic syndrome,
LEUKEMIA, CHRONIC LYMPHOCYTIC, SOMATIC, Inborn genetic diseasesNeurodevelopmental disorder,
Neurodevelopmental abnormality, Mental retardation, autosomal dominant 42, Neurodevelopmental Disability,
Hypotonia, Seizures, Muscular hypotonia,
Developmental regression, Limb hypertonia, Inability to walk,
Seizures, Failure to thrive, Strabismus,
Multifocal epileptiform discharges, EEG with generalized epileptiform discharges, Growth delay,
Nystagmus, Expressive language delay, Global developmental delay,
Intellectual disability, not provided, ...see more
Pathogenic/Likely pathogenic
(Oct 2, 2021)
criteria provided, multiple submitters, no conflictsVCV000208722
25.
GRCh37:
Chr1:1737948
GRCh38:
Chr1:1806509
GNB1K78RInborn genetic diseases, GNB1-Related Disorder, Mental retardation, autosomal dominant 42,
not provided, Seizures, Neurodevelopmental Disability,
Hypotonia, Global developmental delay, Seizures,
Muscular hypotonia, Infantile muscular hypotoniaEEG with generalized epileptiform discharges,
Growth delay, Feeding difficulties, Strabismus,
...see more
Pathogenic/Likely pathogenic
(Feb 15, 2020)
criteria provided, multiple submitters, no conflictsVCV000224714
26.
GRCh37:
Chr1:2338020-2338021
GRCh38:
Chr1:2406581-2406582
PEX10L272fs, L292fs, L128fs, L147fs, L291fsPeroxisome biogenesis disorders, not provided, Peroxisome biogenesis disorder 6A,
Zellweger syndrome, Peroxisome biogenesis disorder, complementation group 7, Peroxisome biogenesis disorder 6B,
Peroxisome biogenesis disorders, Zellweger syndrome spectrum
Pathogenic
(Oct 13, 2020)
criteria provided, multiple submitters, no conflictsVCV000296273
27.
GRCh37:
Chr1:5947496
GRCh38:
Chr1:5887436
NPHP4Q779*, Q266*, Q267*Senior-Loken syndrome 4, NephronophthisisPathogenic
(Feb 10, 2016)
no assertion criteria providedVCV000003404
28.
GRCh37:
Chr1:5964848
GRCh38:
Chr1:5904788
NPHP4R658*, R145*, R146*Nephronophthisis, Senior-Loken syndrome 4, Nephronophthisis 4
Pathogenic
(Jul 2, 2020)
criteria provided, single submitterVCV000003405
29.
GRCh37:
Chr1:10042688
GRCh38:
Chr1:9982630
NMNAT1E257KLeber congenital amaurosis 9, Retinal dystrophy, Diarrhea,
Global developmental delay, Developmental regression, Gastrointestinal dysmotility,
Severely reduced visual acuity, Nystagmus, not provided,
Retinal dystrophy, Leber congenital amaurosis ...see more
Pathogenic
(Oct 20, 2020)
criteria provided, multiple submitters, no conflictsVCV000037134
30.
GRCh37:
Chr1:11076931
GRCh38:
Chr1:11016874
TARDBPAmyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia, not provided,
Amyotrophic lateral sclerosis type 10
Uncertain significance
(Oct 1, 2020)
criteria provided, multiple submitters, no conflictsVCV000021481
31.
GRCh37:
Chr1:11078893
GRCh38:
Chr1:11018836
TARDBPAmyotrophic lateral sclerosis type 10Conflicting interpretations of pathogenicity
(Mar 12, 2015)
no assertion criteria providedVCV000005233
32.
GRCh37:
Chr1:11082266
GRCh38:
Chr1:11022209
TARDBPAmyotrophic lateral sclerosis type 10Pathogenic
(Mar 12, 2015)
no assertion criteria providedVCV000021482
33.
GRCh37:
Chr1:11082325
GRCh38:
Chr1:11022268
TARDBPMotor neuron disease, Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia,
Amyotrophic lateral sclerosis type 10, not provided
Conflicting interpretations of pathogenicity
(Jun 1, 2021)
criteria provided, conflicting interpretationsVCV000021483
34.
GRCh37:
Chr1:11082347
GRCh38:
Chr1:11022290
TARDBPG294VAmyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia, Amyotrophic lateral sclerosis type 10
Pathogenic
(Mar 11, 2020)
criteria provided, single submitterVCV000021484
35.
GRCh37:
Chr1:11082349
GRCh38:
Chr1:11022292
TARDBPAmyotrophic lateral sclerosis type 10Pathogenic
(Jun 30, 2021)
no assertion criteria providedVCV000021485
36.
GRCh37:
Chr1:11082358
GRCh38:
Chr1:11022301
TARDBPnot provided, Amyotrophic lateral sclerosis type 10Pathogenic
(Jun 22, 2018)
criteria provided, single submitterVCV000005232
37.
GRCh37:
Chr1:11082409
GRCh38:
Chr1:11022352
TARDBPTARDBP-related frontotemporal dementia, Amyotrophic lateral sclerosis type 10, Amyotrophic lateral sclerosis type 10
Pathogenic
(Jul 29, 2020)
criteria provided, multiple submitters, no conflictsVCV000005236
38.
GRCh37:
Chr1:11082475
GRCh38:
Chr1:11022418
TARDBPTARDBP-related frontotemporal dementia, Amyotrophic lateral sclerosis type 10, not provided,
Amyotrophic lateral sclerosis type 10
Pathogenic
(Oct 23, 2020)
criteria provided, multiple submitters, no conflictsVCV000005228
39.
GRCh37:
Chr1:11082508
GRCh38:
Chr1:11022451
TARDBPnot provided, Amyotrophic lateral sclerosis type 10Pathogenic/Likely pathogenic
(Mar 31, 2020)
criteria provided, multiple submitters, no conflictsVCV000005234
40.
GRCh37:
Chr1:11082521
GRCh38:
Chr1:11022464
TARDBPnot provided, Amyotrophic lateral sclerosis type 10Pathogenic
(Feb 20, 2019)
criteria provided, single submitterVCV000021468
41.
GRCh37:
Chr1:11082586-11082587
GRCh38:
Chr1:11022529-11022530
TARDBPY374*Amyotrophic lateral sclerosis type 10Uncertain significance
(Mar 12, 2015)
no assertion criteria providedVCV000021471
42.
GRCh37:
Chr1:11082610
GRCh38:
Chr1:11022553
TARDBPnot provided, Amyotrophic lateral sclerosis type 10, FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED
Likely pathogenic
(Mar 31, 2020)
criteria provided, multiple submitters, no conflictsVCV000021474
43.
GRCh37:
Chr1:11082616
GRCh38:
Chr1:11022559
TARDBPnot provided, Amyotrophic lateral sclerosis type 10, TARDBP-related frontotemporal dementia,
Amyotrophic lateral sclerosis type 10
Uncertain significance
(Jul 16, 2018)
criteria provided, multiple submitters, no conflictsVCV000190399
44.
GRCh37:
Chr1:11082619
GRCh38:
Chr1:11022562
TARDBPAmyotrophic lateral sclerosis type 10Pathogenic
(Mar 12, 2015)
no assertion criteria providedVCV000190400
45.
GRCh37:
Chr1:11082794
GRCh38:
Chr1:11022737
TARDBPAmyotrophic lateral sclerosis type 10Pathogenic
(Apr 23, 2009)
no assertion criteria providedVCV000021465
46.
GRCh37:
Chr1:15767020
GRCh38:
Chr1:15440524
CTRCW55*Pancreatitis, chronic, susceptibility to, Hereditary pancreatitisPathogenic, risk factor
(Mar 13, 2014)
no assertion criteria providedVCV000008180
47.
GRCh37:
Chr1:15767036
GRCh38:
Chr1:15440540
CTRCInborn genetic diseases, Hereditary pancreatitis, not specified,
not provided
Benign/Likely benign
(Dec 3, 2020)
criteria provided, multiple submitters, no conflictsVCV000240763
48.
GRCh37:
Chr1:15767073
GRCh38:
Chr1:15440577
CTRCA73THereditary pancreatitisConflicting interpretations of pathogenicity
(Jul 13, 2020)
criteria provided, conflicting interpretationsVCV000132149
49.
GRCh37:
Chr1:15772183-15772206
GRCh38:
Chr1:15445688-15445711
CTRCInborn genetic diseases, not specified, not provided,
Hereditary pancreatitis
Pathogenic
(Nov 18, 2019)
criteria provided, multiple submitters, no conflictsVCV000132150
50.
GRCh37:
Chr1:15772212
GRCh38:
Chr1:15445717
CTRCR254WPancreatitis, chronic, susceptibility to, Inborn genetic diseases, Hereditary pancreatitis
Conflicting interpretations of pathogenicity, association
(Oct 6, 2020)
criteria provided, conflicting interpretationsVCV000008178
51.
GRCh37:
Chr1:20972108
GRCh38:
Chr1:20645615
PINK1-AS, PINK1A339TParkinson disease 6, autosomal recessive early-onset, not providedConflicting interpretations of pathogenicity
(Jan 12, 2021)
criteria provided, conflicting interpretationsVCV000500148
52.
GRCh37:
Chr1:21889760
GRCh38:
Chr1:21563267
ALPLR152H, R75H, R97Hnot specified, not provided, none provided,
Childhood hypophosphatasia, Adult hypophosphatasia, Infantile hypophosphatasia,
Hypophosphatasia
Benign/Likely benign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000197679
53.
GRCh37:
Chr1:21890632
GRCh38:
Chr1:21564139
ALPLE191K, E114K, E136KAdult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia,
not provided, Hypophosphatasia, Adult hypophosphatasia,
Odontohypophosphatasia, Infantile hypophosphatasia, Childhood hypophosphatasia
Pathogenic/Likely pathogenic
(Oct 26, 2020)
criteria provided, multiple submitters, no conflictsVCV000013670
54.
GRCh37:
Chr1:21894735
GRCh38:
Chr1:21568242
ALPLY263H, Y186H, Y208Hnot provided, not specified, Hypophosphatasia,
Infantile hypophosphatasia, Childhood hypophosphatasia, Adult hypophosphatasia,
none provided
Benign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000198423
55.
GRCh37:
Chr1:21900274
GRCh38:
Chr1:21573781
ALPLF327L, F250L, F272Lnot provided, Hypophosphatasia, Adult hypophosphatasia,
Infantile hypophosphatasia
Pathogenic/Likely pathogenic
(Oct 18, 2020)
criteria provided, multiple submitters, no conflictsVCV000013673
56.
GRCh37:
Chr1:21902229
GRCh38:
Chr1:21575736
ALPLG334D, G257D, G279DAdult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia,
not provided, Hypophosphatasia, Adult hypophosphatasia,
Infantile hypophosphatasia
Pathogenic/Likely pathogenic
(Apr 23, 2021)
criteria provided, multiple submitters, no conflictsVCV000013672
57.
GRCh37:
Chr1:21902361
GRCh38:
Chr1:21575868
ALPLD378V, D301V, D323Vnot provided, Adult hypophosphatasia, Childhood hypophosphatasia,
Infantile hypophosphatasia, Hypophosphatasia, Adult hypophosphatasia,
Infantile hypophosphatasia
Pathogenic
(Aug 4, 2021)
criteria provided, multiple submitters, no conflictsVCV000013671
58.
GRCh37:
Chr1:21904125
GRCh38:
Chr1:21577632
ALPLL443fs, L520fs, L465fsnot provided, Hypophosphatasia, Infantile hypophosphatasia
Pathogenic
(Feb 24, 2020)
criteria provided, multiple submitters, no conflictsVCV000013674
59.
GRCh37:
Chr1:21904131
GRCh38:
Chr1:21577638
ALPLV522A, V445A, V467Anot specified, Hypophosphatasia, none provided,
not provided, Infantile hypophosphatasia, Childhood hypophosphatasia,
Adult hypophosphatasia
Benign
(Jul 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000193996
60.
GRCh37:
Chr1:24122673
GRCh38:
Chr1:23796183
GALEG319Enot provided, UDPglucose-4-epimerase deficiencyConflicting interpretations of pathogenicity, other
(Oct 6, 2020)
criteria provided, conflicting interpretationsVCV000003681
61.
GRCh37:
Chr1:24122724
GRCh38:
Chr1:23796234
GALEG302DUDPglucose-4-epimerase deficiencyPathogenic
(Feb 24, 2021)
no assertion criteria providedVCV000021173
62.
GRCh37:
Chr1:24123212
GRCh38:
Chr1:23796722
GALEK257RUDPglucose-4-epimerase deficiency, not specified, not provided
Benign/Likely benign, other
(Dec 22, 2019)
criteria provided, multiple submitters, no conflictsVCV000003679
63.
GRCh37:
Chr1:24123267
GRCh38:
Chr1:23796777
GALER239WUDPglucose-4-epimerase deficiencyLikely pathogenic
(Mar 18, 2016)
criteria provided, single submitterVCV000021172
64.
GRCh37:
Chr1:24124208
GRCh38:
Chr1:23797718
GALER169Wnot provided, UDPglucose-4-epimerase deficiencyPathogenic
(Jun 11, 2014)
criteria provided, single submitterVCV000021171
65.
GRCh37:
Chr1:24124678
GRCh38:
Chr1:23798188
GALEV94Mnot provided, UDPglucose-4-epimerase deficiency, Galactose epimerase deficiency, severe
Pathogenic/Likely pathogenic
(May 1, 2017)
criteria provided, multiple submitters, no conflictsVCV000003682
66.
GRCh37:
Chr1:24125191
GRCh38:
Chr1:23798701
GALER51WUDPglucose-4-epimerase deficiencyConflicting interpretations of pathogenicity
(Aug 20, 2020)
criteria provided, conflicting interpretationsVCV000984932
67.
GRCh37:
Chr1:26136244
GRCh38:
Chr1:25809753
SELENONG315S, G281SSEPN1-Related Disorders, not provided, Congenital myopathy with fiber type disproportion,
Eichsfeld type congenital muscular dystrophy, Congenital myopathy with fiber type disproportion, Eichsfeld type congenital muscular dystrophy
Pathogenic/Likely pathogenic
(Jun 11, 2021)
criteria provided, multiple submitters, no conflictsVCV000004496
68.
GRCh37:
Chr1:40555167
GRCh38:
Chr1:40089495
PPT1R151*, R48*History of neurodevelopmental disorder, Neuronal Ceroid-Lipofuscinosis, Recessive, not provided,
Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 1
Pathogenic/Likely pathogenic
(Oct 23, 2020)
criteria provided, multiple submitters, no conflictsVCV000008904
69.
GRCh37:
Chr1:40557070
GRCh38:
Chr1:40091398
PPT1R122WInborn genetic diseases, not provided, Neuronal ceroid lipofuscinosis,
Neuronal ceroid lipofuscinosis 1
Pathogenic
(Apr 12, 2021)
criteria provided, multiple submitters, no conflictsVCV000008899
70.
GRCh37:
Chr1:40775606-40775613
GRCh38:
Chr1:40309934-40309941
COL9A2Stickler syndrome, type 5Pathogenic
(May 6, 2021)
no assertion criteria providedVCV000029645
71.
GRCh37:
Chr1:41249975
GRCh38:
Chr1:40784303
KCNQ4Q71fsAutosomal dominant nonsyndromic deafness 2APathogenic
(Feb 17, 2011)
no assertion criteria providedVCV000006248
72.
GRCh37:
Chr1:41249976-41249988
GRCh38:
Chr1:40784304-40784316
KCNQ4Q71fsAutosomal dominant nonsyndromic deafness 2APathogenic
(Nov 22, 2019)
no assertion criteria providedVCV000006245
73.
GRCh37:
Chr1:41249989-41249990
GRCh38:
Chr1:40784317-40784318
KCNQ4H77fsAutosomal dominant nonsyndromic deafness 2APathogenic
(Aug 20, 2015)
no assertion criteria providedVCV000208364
74.
GRCh37:
Chr1:41284190
GRCh38:
Chr1:40818518
KCNQ4F182Lnot provided, Autosomal dominant nonsyndromic deafness 2ABenign/Likely benign
(Sep 23, 2020)
criteria provided, multiple submitters, no conflictsVCV000021424
75.
GRCh37:
Chr1:41284292
GRCh38:
Chr1:40818620
KCNQ4not provided, Autosomal dominant nonsyndromic deafness 2AConflicting interpretations of pathogenicity
(Dec 4, 2020)
criteria provided, conflicting interpretationsVCV000021425
76.
GRCh37:
Chr1:41284333
GRCh38:
Chr1:40818661
KCNQ4V230EAutosomal dominant nonsyndromic deafness 2APathogenic
(Aug 20, 2015)
no assertion criteria providedVCV000208365
77.
GRCh37:
Chr1:41285088
GRCh38:
Chr1:40819416
KCNQ4E260KAutosomal dominant nonsyndromic deafness 2APathogenic
(Aug 20, 2015)
no assertion criteria providedVCV000021426
78.
GRCh37:
Chr1:41285095
GRCh38:
Chr1:40819423
KCNQ4D262VAutosomal dominant nonsyndromic deafness 2APathogenic
(Aug 20, 2015)
no assertion criteria providedVCV000021427
79.
GRCh37:
Chr1:41285111-41285113
GRCh38:
Chr1:40819439-40819441
KCNQ4S269delnot specified, Nonsyndromic hearing loss and deafness, not provided,
Autosomal dominant nonsyndromic deafness 2A
Likely pathogenic
(Nov 26, 2019)
reviewed by expert panel
FDA Recognized Database
VCV000208366
80.
GRCh37:
Chr1:41285118
GRCh38:
Chr1:40819446
KCNQ4Y270HAutosomal dominant nonsyndromic deafness 2APathogenic
(Aug 20, 2015)
no assertion criteria providedVCV000208367
81.
GRCh37:
Chr1:41285131
GRCh38:
Chr1:40819459
KCNQ4L274HAutosomal dominant nonsyndromic deafness 2APathogenic
(Aug 20, 2015)
no assertion criteria providedVCV000006247
82.
GRCh37:
Chr1:41285133
GRCh38:
Chr1:40819461
KCNQ4W275RAutosomal dominant nonsyndromic deafness 2APathogenic
(Aug 20, 2015)
no assertion criteria providedVCV000208368
83.
GRCh37:
Chr1:41285137
GRCh38:
Chr1:40819465
KCNQ4W276SRare genetic deafness, not provided, Autosomal dominant nonsyndromic deafness 2A
Pathogenic
(Jun 24, 2014)
criteria provided, single submitterVCV000006242
84.
GRCh37:
Chr1:41285554
GRCh38:
Chr1:40819882
KCNQ4L281Snot provided, Autosomal dominant nonsyndromic deafness 2APathogenic
(Jan 17, 2020)
criteria provided, multiple submitters, no conflictsVCV000006246
85.
GRCh37:
Chr1:41285565
GRCh38:
Chr1:40819893
KCNQ4G285CAutosomal dominant nonsyndromic deafness 2APathogenic
(Feb 17, 2011)
no assertion criteria providedVCV000006244
86.
GRCh37:
Chr1:41285565
GRCh38:
Chr1:40819893
KCNQ4G285SNonsyndromic hearing loss and deafness, Rare genetic deafness, Autosomal dominant nonsyndromic deafness 2A
Pathogenic
(Sep 11, 2018)
reviewed by expert panel
FDA Recognized Database
VCV000006241
87.
GRCh37:
Chr1:41285571
GRCh38:
Chr1:40819899
KCNQ4G287Rnot provided, Autosomal dominant nonsyndromic deafness 2APathogenic
(Jun 20, 2013)
no assertion criteria providedVCV000156337
88.
GRCh37:
Chr1:41285583
GRCh38:
Chr1:40819911
KCNQ4P291SAutosomal dominant nonsyndromic deafness 2APathogenic
(Aug 20, 2015)
no assertion criteria providedVCV000208369
89.
GRCh37:
Chr1:41285584
GRCh38:
Chr1:40819912
KCNQ4P291LAutosomal dominant nonsyndromic deafness 2APathogenic
(Aug 20, 2015)
no assertion criteria providedVCV000208370
90.
GRCh37:
Chr1:41285598
GRCh38:
Chr1:40819926
KCNQ4G296SAutosomal dominant nonsyndromic deafness 2APathogenic
(Aug 20, 2015)
no assertion criteria providedVCV000006249
91.
GRCh37:
Chr1:41285603
GRCh38:
Chr1:40819931
KCNQ4R297Snot provided, Autosomal dominant nonsyndromic deafness 2AUncertain significance
(Oct 16, 2020)
criteria provided, single submitterVCV000208371
92.
GRCh37:
Chr1:41285852
GRCh38:
Chr1:40820180
KCNQ4G321SRare genetic deafness, Autosomal dominant nonsyndromic deafness 2ALikely pathogenic
(Feb 19, 2020)
criteria provided, single submitterVCV000006243
93.
GRCh37:
Chr1:41287988-41287995
GRCh38:
Chr1:40822313-40822320
KCNQ4Autosomal dominant nonsyndromic deafness 2APathogenic
(Aug 20, 2015)
no assertion criteria providedVCV000208372
94.
GRCh37:
Chr1:41296966
GRCh38:
Chr1:40831294
KCNQ4Autosomal dominant nonsyndromic deafness 2AUncertain significance
(May 10, 2018)
no assertion criteria providedVCV000021423
95.
GRCh37:
Chr1:41304146
GRCh38:
Chr1:40838474
KCNQ4S680F, S626FAutosomal dominant nonsyndromic deafness 2APathogenic
(Aug 20, 2015)
no assertion criteria providedVCV000208373
96.
GRCh37:
Chr1:44466477
GRCh38:
Chr1:44000805
SLC6A9Q573*, Q500*, Q479*, Q504*, Q389*, Q435*, Q519*Glycine encephalopathy with normal serum glycinePathogenic
(Sep 19, 2017)
no assertion criteria providedVCV000374987
97.
GRCh37:
Chr1:44467262
GRCh38:
Chr1:44001590
SLC6A9S407G, S334G, S223G, S269G, S353G, S313G, S338GGlycine encephalopathy with normal serum glycinePathogenic
(Sep 19, 2017)
no assertion criteria providedVCV000374986
98.
GRCh37:
Chr1:44468535-44468539
GRCh38:
Chr1:44002863-44002867
SLC6A9K126fs, K172fs, K216fs, K237fs, K241fs, K256fs, K310fsGlycine encephalopathy with normal serum glycinePathogenic
(Sep 19, 2017)
no assertion criteria providedVCV000374988
99.
GRCh37:
Chr1:45341306
GRCh38:
Chr1:44875634
EIF2B3I346TLeukoencephalopathy with vanishing white matterPathogenic
(Apr 1, 2019)
no assertion criteria providedVCV000004440
100.
GRCh37:
Chr1:45444021
GRCh38:
Chr1:44978349
EIF2B3A87Vnot provided, Leukoencephalopathy with vanishing white matterConflicting interpretations of pathogenicity
(Jun 22, 2021)
criteria provided, conflicting interpretationsVCV000004439
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