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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr5:149094155-180699152
GRCh38:
Chr5:149714592-181272151
LOC116158526, OR2Y1, UNC5A, LOC105378230, SCGB3A1, LOC116158532, LMAN2, LOC121099715, BTNL3, TIGD6, GPX3, CREBRF, FAM114A2, LINC01484, LOC110120747, LOC112997579, LOC108004526, MIR378A, FGFR4, LOC121099716, LOC100996385, LOC111429606, GRIA1, ZBED8, LOC100502572, NDST1, CYFIP2, IL12B, HMGXB3, LINC01932, MIR3142, SLC36A2, TLX3, LOC111188156, RPL26L1-AS1, MIR12125, LOC111500319, CTC-338M12.4, LOC114004391, EBF1, TRIM52-AS1, TMED9, EFCAB9, MSX2, LOC121740631, LINC02227, LOC109279841, LOC110121041, UBLCP1, ANXA6, C5orf47, CD74, LOC105980006, FOXI1, LOC100128340, SLU7, MIR4638, LOC110121272, LOC121099717, SLIT3-AS2, DOCK2, LOC102546299, LINC01938, LINC01202, CLINT1, GABRP, CPLX2, MIR10523, CLK4, LOC112997569, MRPL22, LOC112997568, LOC116158528, NMUR2, GALNT10, LOC110121027, TRA-TGC3-1, ZNF454, ZNF300, LINC01470, INSYN2B, FAM193B, LINC01847, LINC01411, LINC01845, LOC108228201, LINC01951, LOC116158535, ATOX1-AS1, TRV-CAC1-3, CTB-178M22.2, LOC100288254, FBLL1, SPARC, C1QTNF2, SNORD96A, LOC101927908, OR2V1, TBC1D9B, MIR218-2, FAM153B, LOC100128059, MIR4281, COL23A1, FLT4, UIMC1, LINC00847, HAND1, LOC110120965, KCNMB1, MIR378E, LOC111828524, HMMR, TENM2, ZFP2, LINC01962, LINC01574, MED7, SPDL1, SNORD95, TNIP1, MFAP3, PFN3, BTNL9, RAB24, B4GALT7, PDE6A, STK10, CCDC69, N4BP3, TRK-CTT2-2, LOC112997575, MAML1, NDST1-AS1, LOC121099713, ITK, CAMK2A, SQSTM1, KCNIP1-AS1, FGF18, LOC110120777, PRR7-AS1, LOC112997571, HIGD2A, SLIT3-AS1, TRP-TGG3-1, GABRA1, SGCD, HAVCR1, MIR5003, SNORA74B, CNOT6, STC2, NSD1, LOC121099710, LOC112997577, LOC112997581, ARL10, TIMD4, ZNF354A, LINC01942, MIR1229, GRM6, SMIM23, DUSP1, LOC110121211, MGAT4B, NOP16, LOC112997574, CNOT8, MIR103A1, HMMR-AS1, HNRNPH1, HNRNPAB, GLRA1, CCNG1, LOC121099712, MIR585, DDX41, TRL-AAG2-1, PTTG1, LOC110120714, MIR3141, MIR3142HG, PHYKPL, LOC121099711, FAM153A, RPS14, IRGM, LOC100652758, TTC1, PANK3, TRL-AAG1-1, MIR6499, SLC26A2, LTC4S, TRK-CTT2-3, MIR3912, MIR8089, MRNIP, PRR7, WWC1, CANX, ATP10B, CPEB4, LOC112997572, PDLIM7, LOC121740635, GARIN3, LINC02159, MSANTD5, THOC3-AS1, LOC112997584, TRV-CAC1-2, MIR12118, GRK6, LOC116158536, RMND5B, FAF2, TRV-AAC1-4, SLC34A1, GEMIN5, TRIM41, LOC116158534, ARSI, OR2V2, LARP1, LINC01187, MIR146A, LOC112997582, PPP1R2B, KCNIP1-OT1, LOC121099718, LOC112997580, PRELID1, LINC01366, RANBP17, TRL-AAG1-2, MIR1271, LOC110120995, LOC100289470, LOC112997570, RNF130, SAP30L-AS1, C5orf60, EIF4E1B, MAPK9, ZNF879, LOC105980008, PDGFRB, TRV-CAC1-5, LOC116158531, LOC100130798, LOC100996419, LCP2, ZNF346, GM2A, HAVCR2, SOX30, ERGIC1, HK3, LOC112997583, LINC01947, DOK3, FAT2, KCNIP1, CLMAT3, LOC111556140, LOC110120998, F12, SLC36A1, SH3PXD2B, LOC105377763, TRIM7, LOC121099714, HEIH, PWWP2A, TRV-AAC2-1, LINC01944, BTNL8, BNIP1, GFPT2, THOC3, NEURL1B, MIR8056, MIR103B1, NKX2-5, LOC116158527, LOC116158530, SNORA70J, RGS14, C5orf52, LOC111188153, ZFP62, ADAM19, DRD1, GPRIN1, MIR1294, NHP2, TRIM52, ATOX1, MAT2B, SYNPO, NSG2, GABRG2, LINC02143, MGAT1, UBTD2, LOC285593, HRH2, LOC111188154, RARS1, LSM11, CBY3, LOC112997576, SLC6A7, THG1L, PPARGC1B, TRV-CAC1-4, LOC112997578, LOC121740632, G3BP1, RUFY1, CDHR2, SNCB, PROP1, LINC01933, KIAA1191, GABRA6, MIR4634, SAP30L, LOC110121241, NIPAL4-DT, FAXDC2, LOC121740630, LINC01861, NUDCD2, LOC121740633, FABP6, MXD3, LOC111188152, LINC02202, RBM22, CSF1R, FABP6-AS1, LINC01485, SIMC1, LOC100507387, TSPAN17, TRL-AAG1-3, CDX1, ADRA1B, DBN1, TRV-AAC1-3, SLC36A3, FNDC9, TRV-AAC1-2, LOC110121284, RNF44, MIR1303, SLIT3, MYOZ3, LOC110120620, MIR378H, LINC02222, CLTB, TCOF1, LOC285626, LOC110121000, GMCL2, ZNF354C, NPM1, DCTN4, C5orf58, RNF145, NIPAL4, CCNJL, RASGEF1C, LOC121740634, LOC110120643, MIR340, ADAMTS2, BOD1, RACK1, ZNF354B, ATP6V0E1, RUFY1-AS1, KIF4B, FBXW11, LOC116158533, SFXN1, RPL26L1, TRT-TGT6-1, SMIM3, GABRB2, LOC101928093
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058118
2.
GRCh37:
Chr5:151823430-165531397
GRCh38:
Chr5:152443869-166104392
See casesPathogenic
(Apr 2, 2012)
no assertion criteria providedVCV000149231
3.
GRCh37:
Chr5:152140747-166675058
GRCh38:
Chr5:152761187-167248053
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058390
4.
GRCh37:
Chr5:152574874-163441011
GRCh38:
Chr5:153195314-164014005
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058391
5.
GRCh37:
Chr5:156252523-180696806
GRCh38:
Chr5:156825512-181269805
ZNF354B, ZNF354C, ZNF454, ZNF879, ADAM19, ADAMTS2, ADRA1B, ARL10, ATP10B, ATP6V0E1, B4GALT7, BNIP1, BOD1, BTNL3, BTNL8, BTNL9, C1QTNF2, C5orf47, C5orf52, C5orf58, C5orf60, CANX, CBY3, CCNG1, CCNJL, CDHR2, CLINT1, CLK4, CLTB, CNOT6, COL23A1, CPEB4, CPLX2, CREBRF, CTB-178M22.2, CTC-338M12.4, CYFIP2, DBN1, DDX41, DOCK2, DOK3, DRD1, DUSP1, EBF1, EFCAB9, EIF4E1B, ERGIC1, F12, FABP6, FABP6-AS1, FAF2, FAM153A, FAM153B, FAM193B, FBLL1, FBXW11, FGF18, FGFR4, FLT4, FNDC9, FOXI1, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GARIN3, GFPT2, GMCL2, GPRIN1, GRK6, GRM6, HAVCR1, HAVCR2, HEIH, HIGD2A, HK3, HMMR, HMMR-AS1, HNRNPAB, HNRNPH1, HRH2, IL12B, INSYN2B, ITK, KCNIP1, KCNIP1-AS1, KCNIP1-OT1, KCNMB1, KIAA1191, LCP2, LINC00847, LINC01187, LINC01202, LINC01366, LINC01411, LINC01484, LINC01485, LINC01574, LINC01845, LINC01847, LINC01932, LINC01938, LINC01942, LINC01944, LINC01947, LINC01951, LINC01962, LINC02143, LINC02159, LINC02202, LINC02222, LINC02227, LMAN2, LOC100128059, LOC100128340, LOC100130798, LOC100288254, LOC100289470, LOC100502572, LOC100507387, LOC100996385, LOC100996419, LOC101927908, LOC101928093, LOC102546299, LOC105377763, LOC105980006, LOC105980008, LOC108004526, LOC109279841, LOC110120620, LOC110120643, LOC110120714, LOC110120747, LOC110120777, LOC110120965, LOC110120995, LOC110120998, LOC110121000, LOC110121027, LOC110121041, LOC110121211, LOC110121241, LOC110121272, LOC110121284, LOC111500319, LOC111556140, LOC112997571, LOC112997572, LOC112997574, LOC112997575, LOC112997576, LOC112997577, LOC112997578, LOC112997579, LOC112997580, LOC112997581, LOC112997582, LOC112997583, LOC112997584, LOC114004391, LOC116158527, LOC116158528, LOC116158530, LOC116158531, LOC116158532, LOC116158533, LOC116158534, LOC116158535, LOC116158536, LOC121099711, LOC121099712, LOC121099713, LOC121099714, LOC121099715, LOC121099716, LOC121099717, LOC121099718, LOC121740632, LOC121740633, LOC121740634, LOC121740635, LOC285593, LOC285626, LSM11, LTC4S, MAML1, MAPK9, MAT2B, MED7, MGAT1, MGAT4B, MIR103A1, MIR103B1, MIR10523, MIR12118, MIR12125, MIR1229, MIR1271, MIR146A, MIR218-2, MIR3142, MIR3142HG, MIR340, MIR378E, MIR3912, MIR4281, MIR4634, MIR4638, MIR5003, MIR585, MIR8056, MIR8089, MRNIP, MSANTD5, MSX2, MXD3, N4BP3, NEURL1B, NHP2, NIPAL4, NIPAL4-DT, NKX2-5, NOP16, NPM1, NSD1, NSG2, NUDCD2, OR2V1, OR2V2, OR2Y1, PANK3, PDLIM7, PFN3, PHYKPL, PPP1R2B, PRELID1, PROP1, PRR7, PRR7-AS1, PTTG1, PWWP2A, RAB24, RACK1, RANBP17, RARS1, RASGEF1C, RGS14, RMND5B, RNF130, RNF145, RNF44, RPL26L1, RPL26L1-AS1, RUFY1, RUFY1-AS1, SCGB3A1, SFXN1, SH3PXD2B, SIMC1, SLC34A1, SLIT3, SLIT3-AS1, SLIT3-AS2, SLU7, SMIM23, SNCB, SNORA70J, SNORA74B, SNORD95, SNORD96A, SOX30, SPDL1, SQSTM1, STC2, STK10, TBC1D9B, TENM2, THG1L, THOC3, THOC3-AS1, TIMD4, TLX3, TMED9, TRA-TGC3-1, TRIM41, TRIM52, TRIM52-AS1, TRIM7, TRK-CTT2-2, TRK-CTT2-3, TRL-AAG1-1, TRL-AAG1-2, TRL-AAG1-3, TRL-AAG2-1, TRP-TGG3-1, TRT-TGT6-1, TRV-AAC1-2, TRV-AAC1-3, TRV-AAC1-4, TRV-AAC2-1, TRV-CAC1-2, TRV-CAC1-3, TRV-CAC1-4, TRV-CAC1-5, TSPAN17, TTC1, UBLCP1, UBTD2, UIMC1, UNC5A, WWC1, ZBED8, ZFP2, ZFP62, ZNF346, ZNF354A
See casesPathogenic
(Dec 30, 2009)
no assertion criteria providedVCV000144365
6.
GRCh37:
Chr5:158368362-163813766
GRCh38:
Chr5:158941354-164386760
See casesPathogenic
(Jun 4, 2012)
no assertion criteria providedVCV000149967
7.
GRCh37:
Chr5:161336961-163513923
GRCh38:
Chr5:161909955-164086917
NUDCD2, MAT2B, LINC01202, GABRG2, CCNG1, HMMR, HMMR-AS1See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058393
8.
GRCh37:
Chr5:161352025-161560223
GRCh38:
Chr5:161925019-162133217
GABRG2, LINC01202See casesUncertain significance
(Sep 12, 2011)
no assertion criteria providedVCV000148444
9.
GRCh37:
Chr5:161381034-161534024
GRCh38:
Chr5:161954028-162107018
GABRG2, LINC01202See casesPathogenic
(Mar 24, 2014)
no assertion criteria providedVCV000153230
10.
GRCh37:
Chr5:161494651
GRCh38:
Chr5:162067645
GABRG2Epilepsy, childhood absence 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000907702
11.
GRCh37:
Chr5:161494672
GRCh38:
Chr5:162067666
GABRG2Epilepsy, childhood absence 2Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000352627
12.
GRCh37:
Chr5:161494724
GRCh38:
Chr5:162067718
GABRG2Epilepsy, childhood absence 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000907703
13.
GRCh37:
Chr5:161494738
GRCh38:
Chr5:162067732
GABRG2Epilepsy, childhood absence 2Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000352628
14.
GRCh37:
Chr5:161494756
GRCh38:
Chr5:162067750
GABRG2Epilepsy, childhood absence 2Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000352629
15.
GRCh37:
Chr5:161494765
GRCh38:
Chr5:162067759
GABRG2Epilepsy, childhood absence 2Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000352630
16.
GRCh37:
Chr5:161494789
GRCh38:
Chr5:162067783
GABRG2Epilepsy, childhood absence 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000352631
17.
GRCh37:
Chr5:161494810
GRCh38:
Chr5:162067804
GABRG2Epilepsy, childhood absence 2Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000904363
18.
GRCh37:
Chr5:161494827
GRCh38:
Chr5:162067821
GABRG2Epilepsy, childhood absence 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000352632
19.
GRCh37:
Chr5:161494852
GRCh38:
Chr5:162067846
GABRG2Epilepsy, childhood absence 2, not providedBenign
(Jun 14, 2018)
criteria provided, multiple submitters, no conflictsVCV000352633
20.
GRCh37:
Chr5:161494892
GRCh38:
Chr5:162067886
GABRG2Epilepsy, childhood absence 2Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000352634
21.
GRCh37:
Chr5:161494902
GRCh38:
Chr5:162067896
GABRG2Epilepsy, childhood absence 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000352635
22.
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
23.
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
24.
GRCh37:
Chr5:161495006
GRCh38:
Chr5:162068000
GABRG2M1VEpilepsy, childhood absence 2Uncertain significance
(May 28, 2019)
criteria provided, single submitterVCV000802174
25.
GRCh37:
Chr5:161495014
GRCh38:
Chr5:162068008
GABRG2Familial febrile seizures 8, Epilepsy, childhood absence 2Likely benign
(Mar 6, 2020)
criteria provided, single submitterVCV000700981
26.
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
27.
GRCh37:
Chr5:161495018
GRCh38:
Chr5:162068012
GABRG2N5Ynot providedUncertain significance
(Apr 10, 2020)
criteria provided, single submitterVCV000205558
28.
GRCh37:
Chr5:161495020
GRCh38:
Chr5:162068014
GABRG2not specifiedLikely benign
(Jul 18, 2016)
criteria provided, single submitterVCV000387546
29.
GRCh37:
Chr5:161495022
GRCh38:
Chr5:162068016
GABRG2I6TEpilepsy, childhood absence 2, Familial febrile seizures 8Uncertain significance
(Apr 16, 2018)
criteria provided, single submitterVCV000582700
30.
GRCh37:
Chr5:161495026
GRCh38:
Chr5:162068020
GABRG2W7Cnot specifiedUncertain significance
(Mar 6, 2015)
criteria provided, single submitterVCV000218869
31.
GRCh37:
Chr5:161495029
GRCh38:
Chr5:162068023
GABRG2S8REpilepsy, childhood absence 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000352638
32.
GRCh37:
Chr5:161495033
GRCh38:
Chr5:162068027
GABRG2G10RFamilial febrile seizures 8, Epilepsy, childhood absence 2Likely benign
(Oct 24, 2020)
criteria provided, single submitterVCV001152526
33.
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
34.
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
35.
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
36.
GRCh37:
Chr5:161495054
GRCh38:
Chr5:162068048
GABRG2P17AFamilial febrile seizures 8, Epilepsy, childhood absence 2Uncertain significance
(Nov 18, 2019)
criteria provided, single submitterVCV000835605
37.
GRCh37:
Chr5:161495057
GRCh38:
Chr5:162068051
GABRG2V18LEpilepsy, childhood absence 2, Familial febrile seizures 8Likely benign
(Aug 30, 2020)
criteria provided, single submitterVCV000707436
38.
GRCh37:
Chr5:161495075
GRCh38:
Chr5:162068069
GABRG2T24A, T2Anot providedUncertain significance
(May 7, 2014)
criteria provided, single submitterVCV000205559
39.
GRCh37:
Chr5:161495076
GRCh38:
Chr5:162068070
GABRG2T24K, T2KEpilepsy, childhood absence 2, Familial febrile seizures 8Uncertain significance
(Aug 3, 2016)
criteria provided, single submitterVCV000408216
40.
GRCh37:
Chr5:161495077
GRCh38:
Chr5:162068071
GABRG2Epilepsy, childhood absence 2, Familial febrile seizures 8Likely benign
(Sep 24, 2019)
criteria provided, single submitterVCV001132901
41.
GRCh37:
Chr5:161495080
GRCh38:
Chr5:162068074
GABRG2Familial febrile seizures 8, Epilepsy, childhood absence 2Likely benign
(Jan 26, 2020)
criteria provided, single submitterVCV001094974
42.
GRCh37:
Chr5:161495084
GRCh38:
Chr5:162068078
GABRG2I27V, I5VEpilepsy, childhood absence 2, Familial febrile seizures 8Likely benign
(Oct 24, 2019)
criteria provided, single submitterVCV000833991
43.
GRCh37:
Chr5:161495089
GRCh38:
Chr5:162068083
GABRG2Epilepsy, childhood absence 2, Familial febrile seizures 8Likely benign
(Jan 4, 2018)
criteria provided, single submitterVCV000536746
44.
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
45.
GRCh37:
Chr5:161495098
GRCh38:
Chr5:162068092
GABRG2Familial febrile seizures 8, Epilepsy, childhood absence 2Likely benign
(Aug 27, 2020)
criteria provided, single submitterVCV001084716
46.
GRCh37:
Chr5:161495100
GRCh38:
Chr5:162068094
GABRG2S32*, S10*Epilepsy, childhood absence 2, Familial febrile seizures 8Pathogenic
(Dec 6, 2019)
criteria provided, single submitterVCV000855508
47.
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
48.
GRCh37:
Chr5:161495111
GRCh38:
Chr5:162068105
GABRG2G36S, G14SEpilepsy, childhood absence 2, Familial febrile seizures 8Uncertain significance
(Jul 17, 2018)
criteria provided, single submitterVCV000646129
49.
GRCh37:
Chr5:161495113
GRCh38:
Chr5:162068107
GABRG2Epilepsy, childhood absence 2, Familial febrile seizures 8Likely pathogenic
(Feb 17, 2020)
criteria provided, single submitterVCV000838924
50.
GRCh37:
Chr5:161495115
GRCh38:
Chr5:162068109
GABRG2not providedUncertain significance
(Jun 24, 2014)
criteria provided, single submitterVCV000205560
51.
GRCh37:
Chr5:161495118
GRCh38:
Chr5:162068112
GABRG2not specifiedConflicting interpretations of pathogenicity
(Sep 2, 2015)
criteria provided, conflicting interpretationsVCV000252809
52.
GRCh37:
Chr5:161495123
GRCh38:
Chr5:162068117
GABRG2not providedLikely benign
(Mar 21, 2018)
criteria provided, single submitterVCV000668848
53.
GRCh37:
Chr5:161495124
GRCh38:
Chr5:162068118
GABRG2Epilepsy, childhood absence 2, not specifiedConflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretationsVCV000205537
54.
GRCh37:
Chr5:161495223
GRCh38:
Chr5:162068217
GABRG2not providedLikely benign
(Jul 26, 2018)
criteria provided, single submitterVCV001193665
55.
GRCh37:
Chr5:161495335
GRCh38:
Chr5:162068329
GABRG2not providedLikely benign
(Jun 14, 2018)
criteria provided, single submitterVCV000680290
56.
GRCh37:
Chr5:161520652
GRCh38:
Chr5:162093646
GABRG2not providedLikely benign
(Jun 19, 2018)
criteria provided, single submitterVCV000680291
57.
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
58.
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
59.
GRCh37:
Chr5:161520863
GRCh38:
Chr5:162093857
GABRG2Y17S, Y24S, Y43S, Y46Snot providedUncertain significance
(Oct 28, 2019)
criteria provided, single submitterVCV001309189
60.
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
61.
GRCh37:
Chr5:161520869
GRCh38:
Chr5:162093863
GABRG2D19G, D26G, D45G, D48GSeizuresLikely benigncriteria provided, single submitterVCV000816627
62.
GRCh37:
Chr5:161520876
GRCh38:
Chr5:162093870
GABRG2SeizuresLikely benign
(Dec 8, 2016)
criteria provided, single submitterVCV000589985
63.
GRCh37:
Chr5:161520881
GRCh38:
Chr5:162093875
GABRG2N52S, N23S, N49S, N30SPyloric stenosis, Esophageal atresiaUncertain significance
(May 22, 2019)
no assertion criteria providedVCV000691349
64.
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
65.
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
66.
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
67.
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
68.
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
69.
GRCh37:
Chr5:161520922
GRCh38:
Chr5:162093916
GABRG2V37I, V44I, V63I, V66IInborn genetic diseasesUncertain significance
(Jan 2, 2019)
criteria provided, single submitterVCV000986007
70.
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
71.
GRCh37:
Chr5:161520946
GRCh38:
Chr5:162093940
GABRG2L74V, L45V, L52V, L71Vnot providedLikely pathogenic
(May 10, 2012)
criteria provided, single submitterVCV000205539
72.
GRCh37:
Chr5:161520969
GRCh38:
Chr5:162093963
GABRG2Familial febrile seizures 8, Epilepsy, childhood absence 2Likely benign
(Oct 23, 2019)
criteria provided, single submitterVCV001087194
73.
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
74.
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
75.
GRCh37:
Chr5:161520973
GRCh38:
Chr5:162093967
GABRG2P83S, P54S, P61S, P80Snot providedLikely pathogenic
(Dec 14, 2017)
criteria provided, single submitterVCV000127233
76.
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
77.
GRCh37:
Chr5:161520986
GRCh38:
Chr5:162093980
GABRG2Familial febrile seizures 8, Epilepsy, childhood absence 2Likely pathogenic
(Oct 8, 2020)
criteria provided, single submitterVCV001066931
78.
GRCh37:
Chr5:161520987
GRCh38:
Chr5:162093981
GABRG2Familial febrile seizures 8, Epilepsy, childhood absence 2Likely pathogenic
(Aug 4, 2020)
criteria provided, single submitterVCV001067627
79.
GRCh37:
Chr5:161521004
GRCh38:
Chr5:162093998
GABRG2not specifiedLikely benign
(Feb 19, 2016)
criteria provided, single submitterVCV000383705
80.
GRCh37:
Chr5:161521005
GRCh38:
Chr5:162093999
GABRG2not specifiedBenign
(Sep 18, 2013)
criteria provided, single submitterVCV000137418
81.
GRCh37:
Chr5:161521045
GRCh38:
Chr5:162094039
GABRG2not providedLikely benign
(Jun 19, 2018)
criteria provided, single submitterVCV000675219
82.
GRCh37:
Chr5:161521258
GRCh38:
Chr5:162094252
GABRG2not providedLikely benign
(Jun 26, 2018)
criteria provided, single submitterVCV001196694
83.
GRCh37:
Chr5:161521280
GRCh38:
Chr5:162094274
GABRG2not providedLikely benign
(Sep 16, 2018)
criteria provided, single submitterVCV001210715
84.
GRCh37:
Chr5:161522318
GRCh38:
Chr5:162095312
GABRG2not providedBenign
(Jun 25, 2018)
criteria provided, single submitterVCV001240717
85.
GRCh37:
Chr5:161522484-161522485
GRCh38:
Chr5:162095478-162095479
GABRG2not providedLikely benign
(Apr 12, 2018)
criteria provided, single submitterVCV000422111
86.
GRCh37:
Chr5:161522492
GRCh38:
Chr5:162095486
GABRG2Familial febrile seizures 8, Epilepsy, childhood absence 2Likely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000797861
87.
GRCh37:
Chr5:161522493
GRCh38:
Chr5:162095487
GABRG2Familial febrile seizures 8, Epilepsy, childhood absence 2Likely benign
(Apr 14, 2020)
criteria provided, single submitterVCV001112045
88.
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
89.
GRCh37:
Chr5:161522511
GRCh38:
Chr5:162095505
GABRG2Familial febrile seizures 8, Epilepsy, childhood absence 2Likely benign
(Oct 28, 2020)
criteria provided, single submitterVCV001088724
90.
GRCh37:
Chr5:161522513
GRCh38:
Chr5:162095507
GABRG2L91*, L62*, L69*, L88*not providedPathogenic
(Sep 29, 2014)
criteria provided, single submitterVCV000205561
91.
GRCh37:
Chr5:161522544
GRCh38:
Chr5:162095538
GABRG2Epilepsy, childhood absence 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000905162
92.
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
93.
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
94.
GRCh37:
Chr5:161522580
GRCh38:
Chr5:162095574
GABRG2not specifiedBenign
(May 22, 2014)
criteria provided, single submitterVCV000137419
95.
GRCh37:
Chr5:161522634
GRCh38:
Chr5:162095628
GABRG2not providedLikely benign
(Jul 26, 2018)
criteria provided, single submitterVCV001218241
96.
GRCh37:
Chr5:161524624
GRCh38:
Chr5:162097618
GABRG2not specifiedBenign
(Mar 22, 2012)
criteria provided, single submitterVCV000137420
97.
GRCh37:
Chr5:161524644-161524645
GRCh38:
Chr5:162097638-162097639
GABRG2not providedUncertain significance
(Apr 17, 2019)
criteria provided, single submitterVCV001304621
98.
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
99.
GRCh37:
Chr5:161524661-161524662
GRCh38:
Chr5:162097655-162097656
GABRG2A118fs, A115fs, A23fs, A89fs, A96fsnot providedPathogenic
(Dec 6, 2017)
criteria provided, single submitterVCV000503773
100.
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
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