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Items: 1 to 100 of 396

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr5:161494651
GRCh38:
Chr5:162067645
GABRG2Epilepsy, childhood absence 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000907702
2.
GRCh37:
Chr5:161494672
GRCh38:
Chr5:162067666
GABRG2Epilepsy, childhood absence 2Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000352627
3.
GRCh37:
Chr5:161494724
GRCh38:
Chr5:162067718
GABRG2Epilepsy, childhood absence 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000907703
4.
GRCh37:
Chr5:161494738
GRCh38:
Chr5:162067732
GABRG2Epilepsy, childhood absence 2Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000352628
5.
GRCh37:
Chr5:161494756
GRCh38:
Chr5:162067750
GABRG2Epilepsy, childhood absence 2Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000352629
6.
GRCh37:
Chr5:161494765
GRCh38:
Chr5:162067759
GABRG2Epilepsy, childhood absence 2Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000352630
7.
GRCh37:
Chr5:161494789
GRCh38:
Chr5:162067783
GABRG2Epilepsy, childhood absence 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000352631
8.
GRCh37:
Chr5:161494810
GRCh38:
Chr5:162067804
GABRG2Epilepsy, childhood absence 2Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000904363
9.
GRCh37:
Chr5:161494827
GRCh38:
Chr5:162067821
GABRG2Epilepsy, childhood absence 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000352632
10.
GRCh37:
Chr5:161494852
GRCh38:
Chr5:162067846
GABRG2Epilepsy, childhood absence 2, not providedBenign
(Jun 14, 2018)
criteria provided, multiple submitters, no conflictsVCV000352633
11.
GRCh37:
Chr5:161494892
GRCh38:
Chr5:162067886
GABRG2Epilepsy, childhood absence 2Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000352634
12.
GRCh37:
Chr5:161494902
GRCh38:
Chr5:162067896
GABRG2Epilepsy, childhood absence 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000352635
13.
GRCh37:
Chr5:161494990-161494991
GRCh38:
Chr5:162067984-162067985
GABRG2Generalized epilepsy with febrile seizures plus, Severe myoclonic epilepsy in infancy, Seizures
Conflicting interpretations of pathogenicity
(Jul 19, 2017)
criteria provided, conflicting interpretationsVCV000352636
14.
GRCh37:
Chr5:161494991
GRCh38:
Chr5:162067985
GABRG2not provided, Generalized epilepsy with febrile seizures plus, Severe myoclonic epilepsy in infancy,
Seizures
Conflicting interpretations of pathogenicity
(Feb 21, 2020)
criteria provided, conflicting interpretationsVCV000352637
15.
GRCh37:
Chr5:161495006
GRCh38:
Chr5:162068000
GABRG2M1VEpilepsy, childhood absence 2Uncertain significance
(May 28, 2019)
criteria provided, single submitterVCV000802174
16.
GRCh37:
Chr5:161495014
GRCh38:
Chr5:162068008
GABRG2Familial febrile seizures 8, Epilepsy, childhood absence 2Likely benign
(Mar 6, 2020)
criteria provided, single submitterVCV000700981
17.
GRCh37:
Chr5:161495016
GRCh38:
Chr5:162068010
GABRG2P4LFamilial febrile seizures 8, Epilepsy, childhood absence 2, not provided
Conflicting interpretations of pathogenicity
(May 20, 2021)
criteria provided, conflicting interpretationsVCV000205557
18.
GRCh37:
Chr5:161495018
GRCh38:
Chr5:162068012
GABRG2N5Ynot providedUncertain significance
(Apr 10, 2020)
criteria provided, single submitterVCV000205558
19.
GRCh37:
Chr5:161495020
GRCh38:
Chr5:162068014
GABRG2not specifiedLikely benign
(Jul 18, 2016)
criteria provided, single submitterVCV000387546
20.
GRCh37:
Chr5:161495022
GRCh38:
Chr5:162068016
GABRG2I6TEpilepsy, childhood absence 2, Familial febrile seizures 8Uncertain significance
(Apr 16, 2018)
criteria provided, single submitterVCV000582700
21.
GRCh37:
Chr5:161495026
GRCh38:
Chr5:162068020
GABRG2W7Cnot specifiedUncertain significance
(Mar 6, 2015)
criteria provided, single submitterVCV000218869
22.
GRCh37:
Chr5:161495029
GRCh38:
Chr5:162068023
GABRG2S8REpilepsy, childhood absence 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000352638
23.
GRCh37:
Chr5:161495033
GRCh38:
Chr5:162068027
GABRG2G10RFamilial febrile seizures 8, Epilepsy, childhood absence 2Likely benign
(Oct 24, 2020)
criteria provided, single submitterVCV001152526
24.
GRCh37:
Chr5:161495041
GRCh38:
Chr5:162068035
GABRG2Familial febrile seizures 8, Epilepsy, childhood absence 2, not provided
Likely benign
(Oct 20, 2019)
criteria provided, multiple submitters, no conflictsVCV000414845
25.
GRCh37:
Chr5:161495042
GRCh38:
Chr5:162068036
GABRG2V13IFamilial febrile seizures 8, Epilepsy, childhood absence 2, not specified
Conflicting interpretations of pathogenicity
(Jul 13, 2020)
criteria provided, conflicting interpretationsVCV000205536
26.
GRCh37:
Chr5:161495046
GRCh38:
Chr5:162068040
GABRG2Y14CEpilepsy, childhood absence 2, Familial febrile seizures 8, not provided,
Epilepsy, childhood absence 2, Seizures
Conflicting interpretations of pathogenicity
(Nov 10, 2020)
criteria provided, conflicting interpretationsVCV000589917
27.
GRCh37:
Chr5:161495054
GRCh38:
Chr5:162068048
GABRG2P17AFamilial febrile seizures 8, Epilepsy, childhood absence 2Uncertain significance
(Nov 18, 2019)
criteria provided, single submitterVCV000835605
28.
GRCh37:
Chr5:161495057
GRCh38:
Chr5:162068051
GABRG2V18LEpilepsy, childhood absence 2, Familial febrile seizures 8Likely benign
(Aug 30, 2020)
criteria provided, single submitterVCV000707436
29.
GRCh37:
Chr5:161495075
GRCh38:
Chr5:162068069
GABRG2T24A, T2Anot providedUncertain significance
(May 7, 2014)
criteria provided, single submitterVCV000205559
30.
GRCh37:
Chr5:161495076
GRCh38:
Chr5:162068070
GABRG2T24K, T2KEpilepsy, childhood absence 2, Familial febrile seizures 8Uncertain significance
(Aug 3, 2016)
criteria provided, single submitterVCV000408216
31.
GRCh37:
Chr5:161495077
GRCh38:
Chr5:162068071
GABRG2Epilepsy, childhood absence 2, Familial febrile seizures 8Likely benign
(Sep 24, 2019)
criteria provided, single submitterVCV001132901
32.
GRCh37:
Chr5:161495080
GRCh38:
Chr5:162068074
GABRG2Familial febrile seizures 8, Epilepsy, childhood absence 2Likely benign
(Jan 26, 2020)
criteria provided, single submitterVCV001094974
33.
GRCh37:
Chr5:161495084
GRCh38:
Chr5:162068078
GABRG2I27V, I5VEpilepsy, childhood absence 2, Familial febrile seizures 8Likely benign
(Oct 24, 2019)
criteria provided, single submitterVCV000833991
34.
GRCh37:
Chr5:161495089
GRCh38:
Chr5:162068083
GABRG2Epilepsy, childhood absence 2, Familial febrile seizures 8Likely benign
(Jan 4, 2018)
criteria provided, single submitterVCV000536746
35.
GRCh37:
Chr5:161495095
GRCh38:
Chr5:162068089
GABRG2not specified, Epilepsy, childhood absence 2, Familial febrile seizures 8
Likely benign
(Apr 27, 2019)
criteria provided, multiple submitters, no conflictsVCV000256826
36.
GRCh37:
Chr5:161495098
GRCh38:
Chr5:162068092
GABRG2Familial febrile seizures 8, Epilepsy, childhood absence 2Likely benign
(Aug 27, 2020)
criteria provided, single submitterVCV001084716
37.
GRCh37:
Chr5:161495100
GRCh38:
Chr5:162068094
GABRG2S32*, S10*Epilepsy, childhood absence 2, Familial febrile seizures 8Pathogenic
(Dec 6, 2019)
criteria provided, single submitterVCV000855508
38.
GRCh37:
Chr5:161495104
GRCh38:
Chr5:162068098
GABRG2not specified, not provided, Epilepsy, childhood absence 2,
Familial febrile seizures 8
Likely benign
(Aug 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000391289
39.
GRCh37:
Chr5:161495111
GRCh38:
Chr5:162068105
GABRG2G36S, G14SEpilepsy, childhood absence 2, Familial febrile seizures 8Uncertain significance
(Jul 17, 2018)
criteria provided, single submitterVCV000646129
40.
GRCh37:
Chr5:161495113
GRCh38:
Chr5:162068107
GABRG2Epilepsy, childhood absence 2, Familial febrile seizures 8Likely pathogenic
(Feb 17, 2020)
criteria provided, single submitterVCV000838924
41.
GRCh37:
Chr5:161495115
GRCh38:
Chr5:162068109
GABRG2not providedUncertain significance
(Jun 24, 2014)
criteria provided, single submitterVCV000205560
42.
GRCh37:
Chr5:161495118
GRCh38:
Chr5:162068112
GABRG2not specifiedConflicting interpretations of pathogenicity
(Sep 2, 2015)
criteria provided, conflicting interpretationsVCV000252809
43.
GRCh37:
Chr5:161495123
GRCh38:
Chr5:162068117
GABRG2not providedLikely benign
(Mar 21, 2018)
criteria provided, single submitterVCV000668848
44.
GRCh37:
Chr5:161495124
GRCh38:
Chr5:162068118
GABRG2Epilepsy, childhood absence 2, not specifiedConflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretationsVCV000205537
45.
GRCh37:
Chr5:161495223
GRCh38:
Chr5:162068217
GABRG2not providedLikely benign
(Jul 26, 2018)
criteria provided, single submitterVCV001193665
46.
GRCh37:
Chr5:161495335
GRCh38:
Chr5:162068329
GABRG2not providedLikely benign
(Jun 14, 2018)
criteria provided, single submitterVCV000680290
47.
GRCh37:
Chr5:161520652
GRCh38:
Chr5:162093646
GABRG2not providedLikely benign
(Jun 19, 2018)
criteria provided, single submitterVCV000680291
48.
GRCh37:
Chr5:161520852-161520854
GRCh38:
Chr5:162093846-162093848
GABRG2D23del, D45del, D16del, D42delFamilial febrile seizures 8, Epilepsy, childhood absence 2Uncertain significance
(Feb 10, 2020)
criteria provided, single submitterVCV000936246
49.
GRCh37:
Chr5:161520861
GRCh38:
Chr5:162093855
GABRG2Epilepsy, childhood absence 2, Epilepsy, childhood absence 2, Familial febrile seizures 8,
not provided
Conflicting interpretations of pathogenicity
(Aug 3, 2020)
criteria provided, conflicting interpretationsVCV000352639
50.
GRCh37:
Chr5:161520863
GRCh38:
Chr5:162093857
GABRG2Y17S, Y24S, Y43S, Y46Snot providedUncertain significance
(Oct 28, 2019)
criteria provided, single submitterVCV001309189
51.
GRCh37:
Chr5:161520866
GRCh38:
Chr5:162093860
GABRG2E44G, E47G, E25G, E18GEpilepsy, childhood absence 2, Familial febrile seizures 8Likely benign
(Mar 26, 2020)
criteria provided, single submitterVCV000839271
52.
GRCh37:
Chr5:161520869
GRCh38:
Chr5:162093863
GABRG2D19G, D26G, D45G, D48GSeizuresLikely benigncriteria provided, single submitterVCV000816627
53.
GRCh37:
Chr5:161520876
GRCh38:
Chr5:162093870
GABRG2SeizuresLikely benign
(Dec 8, 2016)
criteria provided, single submitterVCV000589985
54.
GRCh37:
Chr5:161520881
GRCh38:
Chr5:162093875
GABRG2N52S, N23S, N49S, N30SPyloric stenosis, Esophageal atresiaUncertain significance
(May 22, 2019)
no assertion criteria providedVCV000691349
55.
GRCh37:
Chr5:161520888
GRCh38:
Chr5:162093882
GABRG2Familial febrile seizures 8, Epilepsy, childhood absence 2, not provided
Likely benign
(Sep 24, 2020)
criteria provided, multiple submitters, no conflictsVCV000516181
56.
GRCh37:
Chr5:161520899
GRCh38:
Chr5:162093893
GABRG2T58N, T29N, T36N, T55NEpilepsy, childhood absence 2, Familial febrile seizures 8Uncertain significance
(Sep 20, 2018)
criteria provided, single submitterVCV000205538
57.
GRCh37:
Chr5:161520910
GRCh38:
Chr5:162093904
GABRG2P33A, P40A, P59A, P62AFamilial febrile seizures 8, Epilepsy, childhood absence 2Likely benign
(Jun 7, 2020)
criteria provided, single submitterVCV001109734
58.
GRCh37:
Chr5:161520911
GRCh38:
Chr5:162093905
GABRG2P33R, P40R, P59R, P62REpilepsy, childhood absence 2, Familial febrile seizures 8Likely benign
(Aug 31, 2020)
criteria provided, single submitterVCV001141859
59.
GRCh37:
Chr5:161520917
GRCh38:
Chr5:162093911
GABRG2G64D, G35D, G42D, G61DEpilepsy, childhood absence 2, Familial febrile seizures 8Uncertain significance
(Jun 7, 2019)
criteria provided, single submitterVCV000568209
60.
GRCh37:
Chr5:161520922
GRCh38:
Chr5:162093916
GABRG2V37I, V44I, V63I, V66IInborn genetic diseasesUncertain significance
(Jan 2, 2019)
criteria provided, single submitterVCV000986007
61.
GRCh37:
Chr5:161520945
GRCh38:
Chr5:162093939
GABRG2Seizures, Epilepsy, childhood absence 2, Familial febrile seizures 8,
not provided
Benign/Likely benign
(Oct 1, 2020)
criteria provided, multiple submitters, no conflictsVCV000588971
62.
GRCh37:
Chr5:161520946
GRCh38:
Chr5:162093940
GABRG2L74V, L45V, L52V, L71Vnot providedLikely pathogenic
(May 10, 2012)
criteria provided, single submitterVCV000205539
63.
GRCh37:
Chr5:161520969
GRCh38:
Chr5:162093963
GABRG2Familial febrile seizures 8, Epilepsy, childhood absence 2Likely benign
(Oct 23, 2019)
criteria provided, single submitterVCV001087194
64.
GRCh37:
Chr5:161520969
GRCh38:
Chr5:162093963
GABRG2not provided, not specified, Epilepsy, childhood absence 2,
Epilepsy, childhood absence 2, Familial febrile seizures 8
Conflicting interpretations of pathogenicity
(Jun 1, 2021)
criteria provided, conflicting interpretationsVCV000137417
65.
GRCh37:
Chr5:161520971
GRCh38:
Chr5:162093965
GABRG2R82Q, R53Q, R60Q, R79QEpilepsy, childhood absence 2, Familial febrile seizures 8, not provided,
Epilepsy, childhood absence 2, Familial febrile seizures 8
Pathogenic/Likely pathogenic
(Aug 6, 2020)
criteria provided, multiple submitters, no conflictsVCV000016208
66.
GRCh37:
Chr5:161520973
GRCh38:
Chr5:162093967
GABRG2P83S, P54S, P61S, P80Snot providedLikely pathogenic
(Dec 14, 2017)
criteria provided, single submitterVCV000127233
67.
GRCh37:
Chr5:161520974
GRCh38:
Chr5:162093968
GABRG2P61L, P54L, P83L, P80LEpilepsy, childhood absence 2, Familial febrile seizures 8Uncertain significance
(Feb 25, 2020)
criteria provided, single submitterVCV001042549
68.
GRCh37:
Chr5:161520986
GRCh38:
Chr5:162093980
GABRG2Familial febrile seizures 8, Epilepsy, childhood absence 2Likely pathogenic
(Oct 8, 2020)
criteria provided, single submitterVCV001066931
69.
GRCh37:
Chr5:161520987
GRCh38:
Chr5:162093981
GABRG2Familial febrile seizures 8, Epilepsy, childhood absence 2Likely pathogenic
(Aug 4, 2020)
criteria provided, single submitterVCV001067627
70.
GRCh37:
Chr5:161521004
GRCh38:
Chr5:162093998
GABRG2not specifiedLikely benign
(Feb 19, 2016)
criteria provided, single submitterVCV000383705
71.
GRCh37:
Chr5:161521005
GRCh38:
Chr5:162093999
GABRG2not specifiedBenign
(Sep 18, 2013)
criteria provided, single submitterVCV000137418
72.
GRCh37:
Chr5:161521045
GRCh38:
Chr5:162094039
GABRG2not providedLikely benign
(Jun 19, 2018)
criteria provided, single submitterVCV000675219
73.
GRCh37:
Chr5:161521258
GRCh38:
Chr5:162094252
GABRG2not providedLikely benign
(Jun 26, 2018)
criteria provided, single submitterVCV001196694
74.
GRCh37:
Chr5:161521280
GRCh38:
Chr5:162094274
GABRG2not providedLikely benign
(Sep 16, 2018)
criteria provided, single submitterVCV001210715
75.
GRCh37:
Chr5:161522318
GRCh38:
Chr5:162095312
GABRG2not providedBenign
(Jun 25, 2018)
criteria provided, single submitterVCV001240717
76.
GRCh37:
Chr5:161522484-161522485
GRCh38:
Chr5:162095478-162095479
GABRG2not providedLikely benign
(Apr 12, 2018)
criteria provided, single submitterVCV000422111
77.
GRCh37:
Chr5:161522492
GRCh38:
Chr5:162095486
GABRG2Familial febrile seizures 8, Epilepsy, childhood absence 2Likely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000797861
78.
GRCh37:
Chr5:161522493
GRCh38:
Chr5:162095487
GABRG2Familial febrile seizures 8, Epilepsy, childhood absence 2Likely benign
(Apr 14, 2020)
criteria provided, single submitterVCV001112045
79.
GRCh37:
Chr5:161522510
GRCh38:
Chr5:162095504
GABRG2T90M, T61M, T68M, T87MFamilial febrile seizures 8, Epilepsy, childhood absence 2, not provided
Conflicting interpretations of pathogenicity
(Mar 16, 2018)
criteria provided, conflicting interpretationsVCV000379114
80.
GRCh37:
Chr5:161522511
GRCh38:
Chr5:162095505
GABRG2Familial febrile seizures 8, Epilepsy, childhood absence 2Likely benign
(Oct 28, 2020)
criteria provided, single submitterVCV001088724
81.
GRCh37:
Chr5:161522513
GRCh38:
Chr5:162095507
GABRG2L91*, L62*, L69*, L88*not providedPathogenic
(Sep 29, 2014)
criteria provided, single submitterVCV000205561
82.
GRCh37:
Chr5:161522544
GRCh38:
Chr5:162095538
GABRG2Epilepsy, childhood absence 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000905162
83.
GRCh37:
Chr5:161522556
GRCh38:
Chr5:162095550
GABRG2not specified, not provided, Epilepsy, childhood absence 2,
Familial febrile seizures 8, Epilepsy, childhood absence 2, Familial febrile seizures 8,
Seizures
Benign
(Dec 5, 2020)
criteria provided, multiple submitters, no conflictsVCV000129127
84.
GRCh37:
Chr5:161522557
GRCh38:
Chr5:162095551
GABRG2A106T, A103T, A11T, A77T, A84TDevelopmental and epileptic encephalopathy, 74, not provided, Epilepsy, childhood absence 2,
Familial febrile seizures 8
Pathogenic/Likely pathogenic
(Oct 2, 2021)
criteria provided, multiple submitters, no conflictsVCV000205541
85.
GRCh37:
Chr5:161522580
GRCh38:
Chr5:162095574
GABRG2not specifiedBenign
(May 22, 2014)
criteria provided, single submitterVCV000137419
86.
GRCh37:
Chr5:161522634
GRCh38:
Chr5:162095628
GABRG2not providedLikely benign
(Jul 26, 2018)
criteria provided, single submitterVCV001218241
87.
GRCh37:
Chr5:161524624
GRCh38:
Chr5:162097618
GABRG2not specifiedBenign
(Mar 22, 2012)
criteria provided, single submitterVCV000137420
88.
GRCh37:
Chr5:161524644-161524645
GRCh38:
Chr5:162097638-162097639
GABRG2not providedUncertain significance
(Apr 17, 2019)
criteria provided, single submitterVCV001304621
89.
GRCh37:
Chr5:161524649
GRCh38:
Chr5:162097643
GABRG2Familial febrile seizures 8, Epilepsy, childhood absence 2, not specified
Likely benign
(Apr 23, 2020)
criteria provided, multiple submitters, no conflictsVCV000390540
90.
GRCh37:
Chr5:161524661-161524662
GRCh38:
Chr5:162097655-162097656
GABRG2A118fs, A115fs, A23fs, A89fs, A96fsnot providedPathogenic
(Dec 6, 2017)
criteria provided, single submitterVCV000503773
91.
GRCh37:
Chr5:161524669
GRCh38:
Chr5:162097663
GABRG2A118V, A115V, A23V, A89V, A96Vnot provided, Epilepsy, childhood absence 2, Familial febrile seizures 8
Uncertain significance
(Jan 16, 2020)
criteria provided, multiple submitters, no conflictsVCV000581040
92.
GRCh37:
Chr5:161524670
GRCh38:
Chr5:162097664
GABRG2not provided, Epilepsy, childhood absence 2, Familial febrile seizures 8,
not specified, Epilepsy, childhood absence 2, Seizures
Benign/Likely benign
(Dec 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000129128
93.
GRCh37:
Chr5:161524676
GRCh38:
Chr5:162097670
GABRG2Epilepsy, childhood absence 2, Epilepsy, childhood absence 2, Familial febrile seizures 8,
not specified, Seizures
Benign/Likely benign
(Dec 2, 2020)
criteria provided, multiple submitters, no conflictsVCV000137421
94.
GRCh37:
Chr5:161524681
GRCh38:
Chr5:162097675
GABRG2Y122C, Y100C, Y119C, Y27C, Y93CFamilial febrile seizures 8, Epilepsy, childhood absence 2Uncertain significance
(Feb 10, 2020)
criteria provided, single submitterVCV000468866
95.
GRCh37:
Chr5:161524688
GRCh38:
Chr5:162097682
GABRG2R102S, R124S, R29S, R121S, R95SEpilepsy, childhood absence 2, Epilepsy, childhood absence 2, Familial febrile seizures 8
Uncertain significance
(Nov 13, 2019)
criteria provided, multiple submitters, no conflictsVCV000959670
96.
GRCh37:
Chr5:161524689
GRCh38:
Chr5:162097683
GABRG2R103C, R122C, R125C, R30C, R96CFamilial febrile seizures 8Uncertain significance
(Oct 25, 2021)
criteria provided, single submitterVCV001321267
97.
GRCh37:
Chr5:161524691
GRCh38:
Chr5:162097685
GABRG2Epilepsy, childhood absence 2, Familial febrile seizures 8, not specified
Conflicting interpretations of pathogenicity
(Oct 23, 2020)
criteria provided, conflicting interpretationsVCV000447369
98.
GRCh37:
Chr5:161524705
GRCh38:
Chr5:162097699
GABRG2S101N, S108N, S127N, S130N, S35NEpilepsy, childhood absence 2, Familial febrile seizures 8Uncertain significance
(Jul 21, 2020)
criteria provided, single submitterVCV001057064
99.
GRCh37:
Chr5:161524710
GRCh38:
Chr5:162097704
GABRG2I132V, I103V, I37V, I110V, I129VEpilepsy, childhood absence 2, Familial febrile seizures 8Uncertain significance
(May 24, 2020)
criteria provided, single submitterVCV001041801
100.
GRCh37:
Chr5:161524710
GRCh38:
Chr5:162097704
GABRG2I132F, I103F, I110F, I129F, I37FEpilepsy, childhood absence 2, Familial febrile seizures 8Uncertain significance
(Jul 2, 2019)
criteria provided, single submitterVCV000953801
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