ClinVar for Gene (Select 2561) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372200	NM_001371727.1(GABRB2):c.238-2A>G	GABRB2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3370743	NM_001371727.1(GABRB2):c.406A>C (p.Lys136Gln)	GABRB2 (K136Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368158	NM_001371727.1(GABRB2):c.523A>G (p.Thr175Ala)	GABRB2 (T175A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364778	NM_001371727.1(GABRB2):c.805G>C (p.Asp269His)	GABRB2 (D269H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363441	NM_001371727.1(GABRB2):c.329G>A (p.Arg110Lys)	GABRB2 (R110K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362280	NM_001371727.1(GABRB2):c.344T>C (p.Leu115Pro)	GABRB2 (L115P)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 2	GLikely pathogenic
Select item 3360376	NM_001371727.1(GABRB2):c.1375C>T (p.His459Tyr)	GABRB2 (H421Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359657	NM_001371727.1(GABRB2):c.1394G>C (p.Ser465Thr)	GABRB2 (S427T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359621	NM_001371727.1(GABRB2):c.2T>C (p.Met1Thr)	GABRB2 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3354439	NM_001371727.1(GABRB2):c.296A>C (p.Asn99Thr)	GABRB2 (N99T)	Single nucleotide variant (missense variant)	GABRB2-related disorder	GUncertain significance
Select item 3343258	NM_001371727.1(GABRB2):c.872_876dup (p.Arg293fs)	GABRB2 (R293fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3341346	NM_001371727.1(GABRB2):c.805G>A (p.Asp269Asn)	GABRB2 (D269N)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 2	GUncertain significance
Select item 3280399	NM_001371727.1(GABRB2):c.520T>C (p.Cys174Arg)	GABRB2 (C174R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3280397	NM_001371727.1(GABRB2):c.1409G>A (p.Arg470His)	GABRB2 (R470H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257363	NM_001371727.1(GABRB2):c.236T>A (p.Met79Lys)	GABRB2 (M79K)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3252983	NM_001371727.1(GABRB2):c.744A>C (p.Gln248His)	GABRB2 (Q248H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3246369	NC_000005.9:g.(?_160721088)_(161524884_?)dup	GABRA1, GABRA6 +2 more	Duplication	Epilepsy, childhood absence 4 +2 more	GUncertain significance
Select item 3246335	NC_000005.9:g.(?_160721088)_(161580374_?)del	GABRB2, GABRA1 +2 more	Deletion	Intellectual disability	GUncertain significance
Select item 3237175	NM_001371727.1(GABRB2):c.429T>G (p.His143Gln)	GABRB2 (H143Q)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 2	GUncertain significance
Select item 3235092	NM_001371727.1(GABRB2):c.920T>G (p.Met307Arg)	GABRB2 (M307R)	Single nucleotide variant (missense variant)	Seizure	GLikely pathogenic
Select item 3097828	NM_001371727.1(GABRB2):c.97A>G (p.Met33Val)	GABRB2 (M33V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063896	NM_001371727.1(GABRB2):c.1151C>T (p.Pro384Leu)	GABRB2 (P384L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063895	NM_001371727.1(GABRB2):c.1265T>C (p.Met422Thr)	GABRB2 (M384T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062861	GRCh37/hg19 5q34(chr5:160404164-161897530)x3	GABRA1, GABRA6 +2 more	Copy number gain	not specified	GUncertain significance
Select item 3062845	GRCh37/hg19 5q34(chr5:160737619-161739029)x3	GABRA1, GABRA6 +2 more	Copy number gain	not specified	GUncertain significance
Select item 3061923	NM_001371727.1(GABRB2):c.242A>G (p.Tyr81Cys)	GABRB2 (Y81C)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 2	GLikely pathogenic
Select item 3026772	NM_001371727.1(GABRB2):c.1294C>T (p.Leu432=)	GABRB2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3010049	NM_001371727.1(GABRB2):c.1380G>A (p.Val460=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 3002153	NM_001371727.1(GABRB2):c.468C>G (p.Thr156=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 2992306	NM_001371727.1(GABRB2):c.876C>T (p.Leu292=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 2893516	NM_001371727.1(GABRB2):c.541+8G>A	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 2893317	NM_001371727.1(GABRB2):c.13C>A (p.Arg5=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 2879026	NM_001371727.1(GABRB2):c.73C>A (p.Gln25Lys)	GABRB2 (Q25K)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2875943	NM_001371727.1(GABRB2):c.378G>A (p.Lys126=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 2875868	NM_001371727.1(GABRB2):c.441C>A (p.Thr147=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 2872973	NM_001371727.1(GABRB2):c.1303G>A (p.Asp435Asn)	GABRB2 (D397N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2867078	NM_001371727.1(GABRB2):c.377A>G (p.Lys126Arg)	GABRB2 (K126R)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2865028	NM_001371727.1(GABRB2):c.1192-7C>G	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 2864422	NM_001371727.1(GABRB2):c.77+17T>C	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 2855151	NM_001371727.1(GABRB2):c.691A>G (p.Arg231Gly)	GABRB2 (R231G)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2853761	NM_001371727.1(GABRB2):c.880dup (p.Glu294fs)	GABRB2 (E294fs)	Duplication (frameshift variant)	Intellectual disability	GUncertain significance
Select item 2852744	NM_001371727.1(GABRB2):c.903T>C (p.Tyr301=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 2852646	NM_001371727.1(GABRB2):c.833-4dup	GABRB2	Duplication (intron variant)	Intellectual disability	GBenign
Select item 2848197	NM_001371727.1(GABRB2):c.458+4T>A	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability	GUncertain significance
Select item 2836698	NM_001371727.1(GABRB2):c.503del (p.Pro168fs)	GABRB2 (P168fs)	Deletion (frameshift variant)	Intellectual disability	GUncertain significance
Select item 2836525	NM_001371727.1(GABRB2):c.235A>T (p.Met79Leu)	GABRB2 (M79L)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2835747	NM_001371727.1(GABRB2):c.535G>A (p.Glu179Lys)	GABRB2 (E179K)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2831934	NM_001371727.1(GABRB2):c.522C>T (p.Cys174=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 2830564	NM_001371727.1(GABRB2):c.1228G>A (p.Glu410Lys)	GABRB2 (E410K +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GBenign
Select item 2830005	NM_001371727.1(GABRB2):c.775C>T (p.Leu259Phe)	GABRB2 (L259F)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 2826325	NM_001371727.1(GABRB2):c.542-3C>A	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability	GUncertain significance
Select item 2822076	NM_001371727.1(GABRB2):c.1077+12G>A	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 2821042	NM_001371727.1(GABRB2):c.639A>G (p.Val213=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 2819929	NM_001371727.1(GABRB2):c.155G>C (p.Arg52Thr)	GABRB2 (R52T)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2817333	NM_001371727.1(GABRB2):c.1293G>A (p.Met431Ile)	GABRB2 (M393I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2811856	NM_001371727.1(GABRB2):c.170-14G>T	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 2811166	NM_001371727.1(GABRB2):c.78-3T>C	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability	GUncertain significance
Select item 2806381	NM_001371727.1(GABRB2):c.624A>T (p.Pro208=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 2806183	NM_001371727.1(GABRB2):c.253A>G (p.Met85Val)	GABRB2 (M85V)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2796131	NM_001371727.1(GABRB2):c.237+7A>G	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 2783775	NM_001371727.1(GABRB2):c.238-19T>G	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 2769034	NM_001371727.1(GABRB2):c.237G>A (p.Met79Ile)	GABRB2 (M79I)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2765827	NM_001371727.1(GABRB2):c.1191+13G>A	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 2759278	NM_001371727.1(GABRB2):c.813A>C (p.Ser271=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 2758666	NM_001371727.1(GABRB2):c.766A>G (p.Ile256Val)	GABRB2 (I256V)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 2747340	NM_001371727.1(GABRB2):c.693G>T (p.Arg231Ser)	GABRB2 (R231S)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2737390	NM_001371727.1(GABRB2):c.238-14T>C	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 2734811	NM_001371727.1(GABRB2):c.878G>C (p.Arg293Pro)	GABRB2 (R293P)	Single nucleotide variant (missense variant)	Intellectual disability	GPathogenic
Select item 2724346	NM_001371727.1(GABRB2):c.51A>C (p.Leu17Phe)	GABRB2 (L17F)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2720993	NM_001371727.1(GABRB2):c.1125G>T (p.Leu375Phe)	GABRB2 (L375F)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GUncertain significance
Select item 2709803	NM_001371727.1(GABRB2):c.226G>C (p.Glu76Gln)	GABRB2 (E76Q)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2707130	NM_001371727.1(GABRB2):c.940G>C (p.Val314Leu)	GABRB2 (V314L)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2704709	NM_001371727.1(GABRB2):c.1529A>T (p.Tyr510Phe)	GABRB2 (Y510F +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2703059	NM_001371727.1(GABRB2):c.224C>T (p.Ser75Phe)	GABRB2 (S75F)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2703056	NM_001371727.1(GABRB2):c.316A>C (p.Thr106Pro)	GABRB2 (T106P)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2692893	NM_001371727.1(GABRB2):c.553A>G (p.Thr185Ala)	GABRB2 (T185A)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2663337	NM_001371727.1(GABRB2):c.217A>C (p.Met73Leu)	GABRB2 (M73L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656019	NM_001371727.1(GABRB2):c.926T>C (p.Leu309Pro)	GABRB2 (L309P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576019	NM_001371727.1(GABRB2):c.981C>A (p.Asn327Lys)	GABRB2 (N327K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575705	NM_001371727.1(GABRB2):c.327C>G (p.Asn109Lys)	GABRB2 (N109K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573792	NM_001371727.1(GABRB2):c.720A>C (p.Arg240Ser)	GABRB2 (R240S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571237	NM_001371727.1(GABRB2):c.746C>G (p.Thr249Arg)	GABRB2 (T249R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2556123	NM_001371727.1(GABRB2):c.238G>C (p.Asp80His)	GABRB2 (D80H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2504432	NM_001371727.1(GABRB2):c.727G>A (p.Gly243Ser)	GABRB2 (G243S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503380	NM_001371727.1(GABRB2):c.68G>A (p.Cys23Tyr)	GABRB2 (C23Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432008	NM_001371727.1(GABRB2):c.1279C>G (p.Pro427Ala)	GABRB2 (P389A +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 2	GUncertain significance
Select item 2432007	NM_001371727.1(GABRB2):c.250A>T (p.Thr84Ser)	GABRB2 (T84S)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 2	GUncertain significance
Select item 2432006	NM_001371727.1(GABRB2):c.255G>A (p.Met85Ile)	GABRB2 (M85I)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 2	GUncertain significance
Select item 2432005	NM_001371727.1(GABRB2):c.1292T>C (p.Met431Thr)	GABRB2 (M393T +1 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 2	GUncertain significance
Select item 2432004	NM_001371727.1(GABRB2):c.1049A>G (p.Asn350Ser)	GABRB2 (N350S)	Single nucleotide variant (missense variant)	Epileptic encephalopathy, infantile or early childhood, 2	GUncertain significance
Select item 2430713	NM_001371727.1(GABRB2):c.833-2A>G	GABRB2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2429722	NM_001371727.1(GABRB2):c.1465C>T (p.Arg489Trp)	GABRB2 (R451W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2426686	NC_000005.9:g.(?_160721088)_(161324428_?)dup	GABRA1, GABRA6 +1 more	Duplication	Intellectual disability	GUncertain significance
Select item 2419939	NM_001371727.1(GABRB2):c.458+20A>G	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 2413631	NM_001371727.1(GABRB2):c.207C>T (p.Ala69=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign
Select item 2277152	NM_001371727.1(GABRB2):c.394G>T (p.Gly132Ter)	GABRB2 (G132*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 2202069	NM_001371727.1(GABRB2):c.1192-3C>T	GABRB2	Single nucleotide variant (intron variant)	Intellectual disability	GBenign
Select item 2201161	NM_001371727.1(GABRB2):c.373G>A (p.Asp125Asn)	GABRB2 (D125N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 2183292	NM_001371727.1(GABRB2):c.1008A>T (p.Gln336His)	GABRB2 (Q336H)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 2176717	NM_001371727.1(GABRB2):c.1065G>A (p.Leu355=)	GABRB2	Single nucleotide variant (synonymous variant)	Intellectual disability	GLikely benign

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