4087[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +295 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +280 more	Copy number loss	See cases	GPathogenic
Select item 144365	GRCh38/hg38 5q33.3-35.3(chr5:156825512-181269805)x3	LOC129995440, LOC129995441 +864 more	Copy number gain	See cases	GPathogenic
Select item 1707452	Single allele	ADRA1B, ATP10B +111 more	Duplication	not specified	GUncertain significance
Select item 149967	GRCh38/hg38 5q33.3-34(chr5:158941354-164386760)x1	GABRA1, GABRA6 +108 more	Copy number loss	See cases	GPathogenic
Select item 3341136	NC_000005.10:g.161832946_162532555del	GABRA1, GABRG2 +1 more	Deletion	not provided	GPathogenic
Select item 58393	GRCh38/hg38 5q34(chr5:161909955-164086917)x1	CCNG1, GABRG2 +17 more	Copy number loss	See cases	GPathogenic
Select item 148444	GRCh38/hg38 5q34(chr5:161925019-162133217)x3	GABRG2, LINC01202	Copy number gain	See cases	GUncertain significance
Select item 153230	GRCh38/hg38 5q34(chr5:161954028-162107018)x1	GABRG2, LINC01202	Copy number loss	See cases	GPathogenic
Select item 2571239	NM_198904.3(GABRG2):c.-375G>C	GABRG2 (D2H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 907702	NM_000816.3(GABRG2):c.-355A>C	GABRG2	Single nucleotide variant (5 prime UTR variant +1 more)	Epilepsy, childhood absence 2	GUncertain significance
Select item 352627	NM_000816.3(GABRG2):c.-334C>T	GABRG2	Single nucleotide variant (5 prime UTR variant +1 more)	Epilepsy, childhood absence 2	GUncertain significance
Select item 907703	NM_000816.3(GABRG2):c.-282C>T	GABRG2	Single nucleotide variant (5 prime UTR variant +1 more)	Epilepsy, childhood absence 2	GUncertain significance
Select item 352628	NM_000816.3(GABRG2):c.-268C>A	GABRG2	Single nucleotide variant (5 prime UTR variant +1 more)	Epilepsy, childhood absence 2	GUncertain significance
Select item 352629	NM_000816.3(GABRG2):c.-250C>T	GABRG2	Single nucleotide variant (5 prime UTR variant +1 more)	Epilepsy, childhood absence 2	GUncertain significance
Select item 352630	NM_000816.3(GABRG2):c.-241A>C	GABRG2	Single nucleotide variant (5 prime UTR variant +1 more)	Epilepsy, childhood absence 2	GUncertain significance
Select item 352631	NM_198904.4(GABRG2):c.-217C>G	GABRG2	Single nucleotide variant (5 prime UTR variant +1 more)	Epilepsy, childhood absence 2	GUncertain significance
Select item 904363	NM_198904.4(GABRG2):c.-196C>T	GABRG2	Single nucleotide variant (5 prime UTR variant +1 more)	Epilepsy, childhood absence 2	GUncertain significance
Select item 352632	NM_198904.4(GABRG2):c.-179T>A	GABRG2	Single nucleotide variant (5 prime UTR variant +1 more)	Epilepsy, childhood absence 2	GUncertain significance
Select item 352633	NM_198904.4(GABRG2):c.-154C>T	GABRG2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 352634	NM_198904.4(GABRG2):c.-114T>C	GABRG2	Single nucleotide variant (5 prime UTR variant +1 more)	Epilepsy, childhood absence 2	GUncertain significance
Select item 352635	NM_198904.4(GABRG2):c.-104T>G	GABRG2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 352636	NM_198904.4(GABRG2):c.-4dup	GABRG2	Duplication (5 prime UTR variant +1 more)	Severe myoclonic epilepsy in infancy +2 more	GConflicting classifications of pathogenicity
Select item 352637	NM_198904.4(GABRG2):c.-4del	GABRG2	Deletion (5 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 802174	NM_198904.4(GABRG2):c.1A>G (p.Met1Val)	GABRG2 (M1V)	Single nucleotide variant (missense variant +3 more)	Epilepsy, childhood absence 2	GUncertain significance
Select item 1479603	NM_198904.4(GABRG2):c.3G>T (p.Met1Ile)	GABRG2 (M1I)	Single nucleotide variant (missense variant +3 more)	Febrile seizures, familial, 8 +1 more	GUncertain significance
Select item 1722218	NM_198904.4(GABRG2):c.6T>G (p.Ser2Arg)	GABRG2 (S2R)	Single nucleotide variant (missense variant +2 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 700981	NM_198904.4(GABRG2):c.9G>A (p.Ser3=)	GABRG2	Single nucleotide variant (synonymous variant +2 more)	Epilepsy, childhood absence 2 +2 more	GLikely benign
Select item 205557	NM_198904.4(GABRG2):c.11C>T (p.Pro4Leu)	GABRG2 (P4L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +3 more	GLikely benign
Select item 205558	NM_198904.4(GABRG2):c.13A>T (p.Asn5Tyr)	GABRG2 (N5Y)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 387546	NM_198904.4(GABRG2):c.15T>C (p.Asn5=)	GABRG2	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 582700	NM_198904.4(GABRG2):c.17T>C (p.Ile6Thr)	GABRG2 (I6T)	Single nucleotide variant (missense variant +2 more)	Epilepsy, childhood absence 2 +1 more	GBenign
Select item 218869	NM_198904.4(GABRG2):c.21G>C (p.Trp7Cys)	GABRG2 (W7C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GUncertain significance
Select item 352638	NM_198904.4(GABRG2):c.24C>A (p.Ser8Arg)	GABRG2 (S8R)	Single nucleotide variant (missense variant +2 more)	Epilepsy, childhood absence 2	GUncertain significance
Select item 1381892	NM_198904.4(GABRG2):c.25A>C (p.Thr9Pro)	GABRG2 (T9P)	Single nucleotide variant (missense variant +2 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 1152526	NM_198904.4(GABRG2):c.28G>A (p.Gly10Arg)	GABRG2 (G10R)	Single nucleotide variant (missense variant +2 more)	Febrile seizures, familial, 8 +1 more	GLikely benign
Select item 2925953	NM_198904.4(GABRG2):c.33C>T (p.Ser11=)	GABRG2	Single nucleotide variant (synonymous variant +2 more)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 414845	NM_198904.4(GABRG2):c.36A>T (p.Ser12=)	GABRG2	Single nucleotide variant (synonymous variant +2 more)	Epilepsy, childhood absence 2 +3 more	GLikely benign
Select item 205536	NM_198904.4(GABRG2):c.37G>A (p.Val13Ile)	GABRG2 (V13I)	Single nucleotide variant (missense variant +2 more)	Epilepsy, childhood absence 2 +2 more	GConflicting classifications of pathogenicity
Select item 589917	NM_198904.4(GABRG2):c.41A>G (p.Tyr14Cys)	GABRG2 (Y14C)	Single nucleotide variant (missense variant +2 more)	Epilepsy, childhood absence 2 +3 more	GConflicting classifications of pathogenicity
Select item 2943852	NM_198904.4(GABRG2):c.48_49inv (p.Pro17Thr)	GABRG2 (P17T)	Inversion (missense variant +2 more)	Febrile seizures, familial, 8 +1 more	GUncertain significance
Select item 835605	NM_198904.4(GABRG2):c.49C>G (p.Pro17Ala)	GABRG2 (P17A)	Single nucleotide variant (missense variant +2 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 707436	NM_198904.4(GABRG2):c.52G>C (p.Val18Leu)	GABRG2 (V18L)	Single nucleotide variant (missense variant +2 more)	Febrile seizures, familial, 8 +2 more	GBenign/Likely benign
Select item 205559	NM_198904.4(GABRG2):c.70A>G (p.Thr24Ala)	GABRG2 (T24A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1464691	NM_198904.4(GABRG2):c.71C>G (p.Thr24Arg)	GABRG2 (T24R +1 more)	Single nucleotide variant (missense variant +2 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 408216	NM_198904.4(GABRG2):c.71C>A (p.Thr24Lys)	GABRG2 (T24K +1 more)	Single nucleotide variant (missense variant +2 more)	Febrile seizures, familial, 8 +1 more	GUncertain significance
Select item 1132901	NM_198904.4(GABRG2):c.72G>C (p.Thr24=)	GABRG2	Single nucleotide variant (synonymous variant +2 more)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 1094974	NM_198904.4(GABRG2):c.75G>A (p.Val25=)	GABRG2	Single nucleotide variant (synonymous variant +2 more)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 2064500	NM_198904.4(GABRG2):c.76T>G (p.Trp26Gly)	GABRG2 (W4G +1 more)	Single nucleotide variant (missense variant +2 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 833991	NM_198904.4(GABRG2):c.79A>G (p.Ile27Val)	GABRG2 (I27V +1 more)	Single nucleotide variant (missense variant +2 more)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 536746	NM_198904.4(GABRG2):c.84G>C (p.Leu28=)	GABRG2	Single nucleotide variant (synonymous variant +2 more)	Febrile seizures, familial, 8 +1 more	GLikely benign
Select item 1515130	NM_198904.4(GABRG2):c.85C>T (p.Leu29Phe)	GABRG2 (L29F +1 more)	Single nucleotide variant (missense variant +2 more)	Febrile seizures, familial, 8 +1 more	GUncertain significance
Select item 2090947	NM_198904.4(GABRG2):c.89T>C (p.Leu30Pro)	GABRG2 (L30P +1 more)	Single nucleotide variant (missense variant +2 more)	Febrile seizures, familial, 8 +1 more	GUncertain significance
Select item 256826	NM_198904.4(GABRG2):c.90G>C (p.Leu30=)	GABRG2	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GLikely benign
Select item 1084716	NM_198904.4(GABRG2):c.93G>A (p.Leu31=)	GABRG2	Single nucleotide variant (synonymous variant +2 more)	Febrile seizures, familial, 8 +1 more	GLikely benign
Select item 855508	NM_198904.4(GABRG2):c.95C>A (p.Ser32Ter)	GABRG2 (S32* +1 more)	Single nucleotide variant (nonsense +2 more)	Epilepsy, childhood absence 2 +1 more	GPathogenic
Select item 391289	NM_198904.4(GABRG2):c.99C>T (p.Leu33=)	GABRG2	Single nucleotide variant (synonymous variant +2 more)	not specified +3 more	GLikely benign
Select item 2574334	NM_198904.4(GABRG2):c.101A>C (p.Tyr34Ser)	GABRG2 (Y12S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1671675	NM_198904.4(GABRG2):c.102C>T (p.Tyr34=)	GABRG2	Single nucleotide variant (synonymous variant +2 more)	Febrile seizures, familial, 8 +1 more	GLikely benign
Select item 2932012	NM_198904.4(GABRG2):c.104C>T (p.Pro35Leu)	GABRG2 (P13L +1 more)	Single nucleotide variant (missense variant +2 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 646129	NM_198904.4(GABRG2):c.106G>A (p.Gly36Ser)	GABRG2 (G36S +1 more)	Single nucleotide variant (missense variant +2 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 1520403	NM_198904.4(GABRG2):c.107G>A (p.Gly36Asp)	GABRG2 (G14D +1 more)	Single nucleotide variant (missense variant +2 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 838924	NM_198904.4(GABRG2):c.107+1G>A	GABRG2	Single nucleotide variant (splice donor variant +1 more)	Epilepsy, childhood absence 2 +1 more	GLikely pathogenic
Select item 205560	NM_198904.4(GABRG2):c.107+3A>G	GABRG2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1958201	NM_198904.4(GABRG2):c.107+6A>T	GABRG2	Single nucleotide variant (intron variant)	Febrile seizures, familial, 8 +1 more	GUncertain significance
Select item 252809	NM_198904.4(GABRG2):c.107+6A>G	GABRG2	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 2 +2 more	GConflicting classifications of pathogenicity
Select item 1580877	NM_198904.4(GABRG2):c.107+8G>A	GABRG2	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 1585334	NM_198904.4(GABRG2):c.107+10G>A	GABRG2	Single nucleotide variant (intron variant)	Febrile seizures, familial, 8 +1 more	GLikely benign
Select item 668848	NM_198904.4(GABRG2):c.107+11C>A	GABRG2	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 2 +2 more	GLikely benign
Select item 205537	NM_198904.4(GABRG2):c.107+12C>T	GABRG2	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2934254	NM_198904.4(GABRG2):c.107+13C>A	GABRG2	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 2929508	NM_198904.4(GABRG2):c.107+15T>G	GABRG2	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 1193665	NM_198904.4(GABRG2):c.107+111G>A	GABRG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 680290	NM_198904.4(GABRG2):c.107+223T>G	GABRG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1341757	NM_198904.4(GABRG2):c.108-3373G>A	GABRG2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 74	GUncertain significance
Select item 680291	NM_198904.4(GABRG2):c.108-182G>A	GABRG2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1578498	NM_198904.4(GABRG2):c.108-17A>G	GABRG2	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 2026024	NM_198904.4(GABRG2):c.108-15T>C	GABRG2	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 2168119	NM_198904.4(GABRG2):c.108-14A>G	GABRG2	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 2938291	NM_198904.4(GABRG2):c.108-12G>A	GABRG2	Single nucleotide variant (intron variant)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 936246	NM_198904.4(GABRG2):c.126TGA[2] (p.Asp45del)	GABRG2 (D23del +3 more)	Microsatellite (inframe_deletion +1 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2934388	NM_198904.4(GABRG2):c.128A>T (p.Asp43Val)	GABRG2 (D40V +3 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2942435	NM_198904.4(GABRG2):c.134A>G (p.Asp45Gly)	GABRG2 (D45G +3 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 352639	NM_198904.4(GABRG2):c.135C>T (p.Asp45=)	GABRG2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1706959	NM_198904.4(GABRG2):c.137A>G (p.Tyr46Cys)	GABRG2 (Y17C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1309189	NM_198904.4(GABRG2):c.137A>C (p.Tyr46Ser)	GABRG2 (Y17S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 839271	NM_198904.4(GABRG2):c.140A>G (p.Glu47Gly)	GABRG2 (E44G +3 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 2951439	NM_198904.4(GABRG2):c.141A>G (p.Glu47=)	GABRG2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 816627	NM_198904.4(GABRG2):c.143A>G (p.Asp48Gly)	GABRG2 (D19G +3 more)	Single nucleotide variant (missense variant +1 more)	Seizure	GLikely benign
Select item 2923750	NM_198904.4(GABRG2):c.144T>A (p.Asp48Glu)	GABRG2 (D48E +3 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2023755	NM_198904.4(GABRG2):c.150T>A (p.Ala50=)	GABRG2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 589985	NM_198904.4(GABRG2):c.150T>C (p.Ala50=)	GABRG2	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 691349	NM_198904.4(GABRG2):c.155A>G (p.Asn52Ser)	GABRG2 (N52S +3 more)	Single nucleotide variant (missense variant +1 more)	Esophageal atresia +1 more	GUncertain significance
Select item 516181	NM_198904.4(GABRG2):c.162A>G (p.Thr54=)	GABRG2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, childhood absence 2 +2 more	GLikely benign
Select item 1650230	NM_198904.4(GABRG2):c.168C>T (p.Val56=)	GABRG2	Single nucleotide variant (synonymous variant +1 more)	Epilepsy, childhood absence 2 +1 more	GLikely benign
Select item 2152511	NM_198904.4(GABRG2):c.173C>T (p.Thr58Ile)	GABRG2 (T29I +3 more)	Single nucleotide variant (missense variant +1 more)	Febrile seizures, familial, 8 +1 more	GUncertain significance
Select item 205538	NM_198904.4(GABRG2):c.173C>A (p.Thr58Asn)	GABRG2 (T58N +3 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance
Select item 2947146	NM_198904.4(GABRG2):c.178A>T (p.Lys60Ter)	GABRG2 (K60* +3 more)	Single nucleotide variant (nonsense +1 more)	Epilepsy, childhood absence 2 +1 more	GPathogenic
Select item 1718531	NM_198904.4(GABRG2):c.179A>T (p.Lys60Ile)	GABRG2 (K31I +3 more)	Single nucleotide variant (missense variant +1 more)	Epilepsy, childhood absence 2 +1 more	GUncertain significance

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