ClinVar for Gene (Select 2555) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246725	NC_000004.11:g.(?_46305457)_(46307748_?)dup	GABRA2	Duplication	not provided	GUncertain significance
Select item 3246724	NC_000004.11:g.(?_46252325)_(46390723_?)del	GABRA2	Deletion	not provided	GUncertain significance
Select item 3242039	NM_000807.4(GABRA2):c.527A>G (p.Asp176Gly)	GABRA2 (D121G +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 78	GUncertain significance
Select item 3236469	NM_000807.4(GABRA2):c.334C>T (p.Arg112Ter)	GABRA2 (R112* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 78	GUncertain significance
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3046650	NM_000807.4(GABRA2):c.471C>A (p.Thr157=)	GABRA2	Single nucleotide variant (synonymous variant)	GABRA2-related disorder	GLikely benign
Select item 3038829	NM_000807.4(GABRA2):c.*2T>A	GABRA2	Single nucleotide variant (3 prime UTR variant)	GABRA2-related disorder	GBenign
Select item 3025746	NM_000807.4(GABRA2):c.40C>T (p.Leu14Phe)	GABRA2 (L14F)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	ARHGEF38, ARL9 +537 more	Copy number gain	not provided	GPathogenic
Select item 3020395	NM_000807.4(GABRA2):c.1059+5541G>A	GABRA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3020369	NM_000807.4(GABRA2):c.398A>G (p.Lys133Arg)	GABRA2 (K78R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3009901	NM_000807.4(GABRA2):c.1128G>C (p.Pro376=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009419	NM_000807.4(GABRA2):c.560-17T>C	GABRA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008936	NM_000807.4(GABRA2):c.1206C>G (p.Asn402Lys)	GABRA2 (N462K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006508	NM_000807.4(GABRA2):c.962A>G (p.Tyr321Cys)	GABRA2 (Y266C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006181	NM_000807.4(GABRA2):c.1334C>A (p.Pro445His)	GABRA2 (P390H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004591	NM_000807.4(GABRA2):c.1059+5539A>G	GABRA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998048	NM_000807.4(GABRA2):c.1059+5609C>A	GABRA2 (L318I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2997155	NM_000807.4(GABRA2):c.294A>G (p.Lys98=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985692	NM_000807.4(GABRA2):c.560-4A>G	GABRA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985627	NM_000807.4(GABRA2):c.261T>C (p.Tyr87=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984626	NM_000807.4(GABRA2):c.1059+5561A>G	GABRA2 (I302V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2983496	NM_000807.4(GABRA2):c.303T>C (p.Arg101=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980134	NM_000807.4(GABRA2):c.857-16A>G	GABRA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978383	NM_000807.4(GABRA2):c.963T>C (p.Tyr321=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975354	NM_000807.4(GABRA2):c.255+8T>G	GABRA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974780	NM_000807.4(GABRA2):c.690T>C (p.Ile230=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972283	NM_000807.4(GABRA2):c.1059+5559C>T	GABRA2 (S301L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2967670	NM_000807.4(GABRA2):c.1191C>T (p.Asn397=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961983	NM_000807.4(GABRA2):c.560-3T>C	GABRA2	Single nucleotide variant (intron variant)	GABRA2-related disorder +1 more	GBenign/Likely benign
Select item 2917733	NM_000807.4(GABRA2):c.219C>T (p.Tyr73=)	GABRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2905703	NM_000807.4(GABRA2):c.1202A>T (p.Glu401Val)	GABRA2 (E401V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898801	NM_000807.4(GABRA2):c.505C>A (p.His169Asn)	GABRA2 (H169N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898497	NM_000807.4(GABRA2):c.483A>G (p.Thr161=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881255	NM_000807.4(GABRA2):c.477-20A>G	GABRA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875158	NM_000807.4(GABRA2):c.121A>G (p.Ile41Val)	GABRA2 (I41V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2872566	NM_000807.4(GABRA2):c.1060-5627G>A	GABRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2870292	NM_000807.4(GABRA2):c.1059+5631G>T	GABRA2 (W325L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2869034	NM_000807.4(GABRA2):c.606A>G (p.Ala202=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868763	NM_000807.4(GABRA2):c.66T>G (p.Pro22=)	GABRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2864267	NM_000807.4(GABRA2):c.256-16C>T	GABRA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858576	NM_000807.4(GABRA2):c.449A>T (p.Asp150Val)	GABRA2 (D150V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2855643	NM_000807.4(GABRA2):c.456G>C (p.Gly152=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2846042	NM_000807.4(GABRA2):c.1158C>A (p.Thr386=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844152	NM_000807.4(GABRA2):c.1169G>C (p.Ser390Thr)	GABRA2 (S390T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839215	NM_000807.4(GABRA2):c.72-6G>A	GABRA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2837386	NM_000807.4(GABRA2):c.1060-5652A>G	GABRA2 (Q338R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2829958	NM_000807.4(GABRA2):c.777G>T (p.Leu259=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2828539	NM_000807.4(GABRA2):c.1059+5642A>C	GABRA2 (I384L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2826388	NM_000807.4(GABRA2):c.930A>G (p.Ala310=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819470	NM_000807.4(GABRA2):c.109A>G (p.Asn37Asp)	GABRA2 (N37D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2819369	NM_000807.4(GABRA2):c.771C>T (p.Thr257=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815269	NM_000807.4(GABRA2):c.1060-5572A>C	GABRA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2810833	NM_000807.4(GABRA2):c.496T>C (p.Cys166Arg)	GABRA2 (C111R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2806112	NM_000807.4(GABRA2):c.1060-5633C>A	GABRA2 (Y344* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2804662	NM_000807.4(GABRA2):c.1221A>T (p.Ala407=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801689	NM_000807.4(GABRA2):c.1059+11G>A	GABRA2 (S357N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2794412	NM_000807.4(GABRA2):c.1059+5550A>G	GABRA2	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2791755	NM_000807.4(GABRA2):c.77T>C (p.Val26Ala)	GABRA2 (V26A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2787791	NM_000807.4(GABRA2):c.676G>A (p.Gly226Arg)	GABRA2 (G171R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2787518	NM_000807.4(GABRA2):c.1060-5580C>T	GABRA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786581	NM_000807.4(GABRA2):c.1110T>A (p.Ala370=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2786153	NM_000807.4(GABRA2):c.1110T>C (p.Ala370=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784171	NM_000807.4(GABRA2):c.1060-4A>G	GABRA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2783521	NM_000807.4(GABRA2):c.476+5G>A	GABRA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2780713	NM_000807.4(GABRA2):c.857-14C>A	GABRA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779443	NM_000807.4(GABRA2):c.1059+5616G>T	GABRA2 (G320V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2775959	NM_000807.4(GABRA2):c.354T>G (p.Ala118=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769783	NM_000807.4(GABRA2):c.97G>T (p.Asp33Tyr)	GABRA2 (D33Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2769774	NM_000807.4(GABRA2):c.159C>A (p.Tyr53Ter)	GABRA2 (Y53* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2768103	NM_000807.4(GABRA2):c.72-13A>G	GABRA2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2766465	NM_000807.4(GABRA2):c.569C>A (p.Thr190Lys)	GABRA2 (T135K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2764264	NM_000807.4(GABRA2):c.1269A>G (p.Ile423Met)	GABRA2 (I423M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2762707	NM_000807.4(GABRA2):c.1059+5648T>C	GABRA2 (F331L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2754087	NM_000807.4(GABRA2):c.1078G>A (p.Val360Ile)	GABRA2 (V365I +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2751071	NM_000807.4(GABRA2):c.1147G>C (p.Val383Leu)	GABRA2 (V328L +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2745758	NM_000807.4(GABRA2):c.1059+5657C>G	GABRA2 (P334A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2743092	NM_000807.4(GABRA2):c.110A>G (p.Asn37Ser)	GABRA2 (N37S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2735080	NM_000807.4(GABRA2):c.187+15C>T	GABRA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2718827	NM_000807.4(GABRA2):c.124T>A (p.Phe42Ile)	GABRA2 (F42I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2714165	NM_000807.4(GABRA2):c.604_605delinsTT (p.Ala202Leu)	GABRA2 (A147L +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2709815	NM_000807.4(GABRA2):c.1113T>C (p.Val371=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706353	NM_000807.4(GABRA2):c.560-11A>C	GABRA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2706223	NM_000807.4(GABRA2):c.686C>T (p.Thr229Ile)	GABRA2 (T229I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2705902	NM_000807.4(GABRA2):c.1328G>A (p.Arg443Lys)	GABRA2 (R388K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2699159	NM_000807.4(GABRA2):c.553G>T (p.Gly185Cys)	GABRA2 (G185C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2697287	NM_000807.4(GABRA2):c.569C>G (p.Thr190Arg)	GABRA2 (T135R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2697103	NM_000807.4(GABRA2):c.332T>C (p.Leu111Pro)	GABRA2 (L56P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2693955	NM_000807.4(GABRA2):c.255+8T>C	GABRA2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693613	NM_000807.4(GABRA2):c.209C>A (p.Thr70Asn)	GABRA2 (T70N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2692842	NM_000807.4(GABRA2):c.258A>C (p.Glu86Asp)	GABRA2 (E86D +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2672990	NM_000807.4(GABRA2):c.1060A>G (p.Lys354Glu)	GABRA2 (K299E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662240	NM_000807.4(GABRA2):c.600C>A (p.Tyr200Ter)	GABRA2 (Y145* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2654746	NM_000807.4(GABRA2):c.181C>T (p.Leu61=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2654745	NM_000807.4(GABRA2):c.537A>T (p.Ser179=)	GABRA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635567	NM_000807.4(GABRA2):c.883A>T (p.Thr295Ser)	GABRA2 (T240S +1 more)	Single nucleotide variant (missense variant)	GABRA2-related disorder	GLikely pathogenic
Select item 2630020	NM_000807.4(GABRA2):c.1214C>T (p.Ala405Val)	GABRA2 (A350V +3 more)	Single nucleotide variant (missense variant)	GABRA2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2610077	NM_000807.4(GABRA2):c.1142A>T (p.Asp381Val)	GABRA2 (D386V +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595101	NM_000807.4(GABRA2):c.30G>A (p.Met10Ile)	GABRA2 (M10I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic

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