GABRA5[gene] and "single gene"[properties] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1197752	NM_000810.4(GABRA5):c.2T>A (p.Met1Lys)	GABRA5 (M1K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3063669	NM_000810.4(GABRA5):c.30C>T (p.Ile10=)	GABRA5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3056823	NM_000810.4(GABRA5):c.31A>G (p.Met11Val)	GABRA5 (M11V)	Single nucleotide variant (missense variant)	GABRA5-related disorder	GUncertain significance
Select item 1314613	NM_000810.4(GABRA5):c.55del (p.Cys19fs)	GABRA5 (C19fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1806589	NM_000810.4(GABRA5):c.72A>T (p.Leu24Phe)	GABRA5 (L24F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432001	NM_000810.4(GABRA5):c.74C>G (p.Ser25Cys)	GABRA5 (S25C)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 79	GUncertain significance
Select item 1329002	NM_000810.4(GABRA5):c.86+1G>A	GABRA5	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 1176624	NM_000810.4(GABRA5):c.100C>G (p.Pro34Ala)	GABRA5 (P34A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2267183	NM_000810.4(GABRA5):c.101C>T (p.Pro34Leu)	GABRA5 (P34L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1803615	NM_000810.4(GABRA5):c.117A>T (p.Lys39Asn)	GABRA5 (K39N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3097821	NM_000810.4(GABRA5):c.152G>A (p.Arg51Lys)	GABRA5 (R51K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289311	NM_000810.4(GABRA5):c.180C>G (p.Tyr60Ter)	GABRA5 (Y60*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 2370447	NM_000810.4(GABRA5):c.220C>A (p.Gln74Lys)	GABRA5 (Q74K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2230635	NM_000810.4(GABRA5):c.221A>G (p.Gln74Arg)	GABRA5 (Q74R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2645024	NM_000810.4(GABRA5):c.228G>A (p.Arg76=)	GABRA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 797775	NM_000810.4(GABRA5):c.264C>G (p.Ser88=)	GABRA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713019	NM_000810.4(GABRA5):c.291C>T (p.Asp97=)	GABRA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 712736	NM_000810.4(GABRA5):c.303A>T (p.Arg101=)	GABRA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2585483	NM_000810.4(GABRA5):c.313A>G (p.Lys105Glu)	GABRA5 (K105E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 79	GUncertain significance
Select item 2645025	NM_000810.4(GABRA5):c.369C>T (p.Leu123=)	GABRA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1702743	NM_000810.4(GABRA5):c.394G>T (p.Asp132Tyr)	GABRA5 (D132Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712868	NM_000810.4(GABRA5):c.436A>G (p.Met146Val)	GABRA5 (M146V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806603	NM_000810.4(GABRA5):c.461G>A (p.Arg154Gln)	GABRA5 (R154Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368680	NM_000810.4(GABRA5):c.472G>C (p.Asp158His)	GABRA5 (D158H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645026	NM_000810.4(GABRA5):c.472G>T (p.Asp158Tyr)	GABRA5 (D158Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578727	NM_000810.4(GABRA5):c.474C>T (p.Asp158=)	GABRA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2595692	NM_000810.4(GABRA5):c.475G>C (p.Gly159Arg)	GABRA5 (G159R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1313115	NM_000810.4(GABRA5):c.490A>T (p.Thr164Ser)	GABRA5 (T164S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801425	NM_000810.4(GABRA5):c.497+8842_497+8896del	GABRA5	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 3067828	NM_000810.4(GABRA5):c.551C>T (p.Ala184Val)	GABRA5 (A184V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 79	GUncertain significance
Select item 3280395	NM_000810.4(GABRA5):c.552G>A (p.Ala184=)	GABRA5	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 3251750	NM_000810.4(GABRA5):c.555C>T (p.His185=)	GABRA5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 734852	NM_000810.4(GABRA5):c.585G>A (p.Ala195=)	GABRA5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1285288	NM_000810.4(GABRA5):c.606T>C (p.Val202=)	GABRA5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 79 +1 more	GBenign
Select item 1335168	NM_000810.4(GABRA5):c.621C>T (p.Asn207=)	GABRA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3280394	NM_000810.4(GABRA5):c.655G>A (p.Gly219Ser)	GABRA5 (G219S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2578728	NM_000810.4(GABRA5):c.693G>A (p.Thr231=)	GABRA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 807199	NM_000810.4(GABRA5):c.713G>A (p.Ser238Asn)	GABRA5 (S238N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3255248	NM_000810.4(GABRA5):c.725-637C>T	GABRA5	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3255246	NM_000810.4(GABRA5):c.725-590C>T	GABRA5	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3255244	NM_000810.4(GABRA5):c.725-555G>A	GABRA5	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1675559	NM_000810.4(GABRA5):c.725-520G>A	GABRA5	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2430088	NM_000810.4(GABRA5):c.730T>C (p.Tyr244His)	GABRA5 (Y244H)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2662208	NM_000810.4(GABRA5):c.757C>G (p.Leu253Val)	GABRA5 (L253V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803652	NM_000810.4(GABRA5):c.847C>T (p.Arg283Trp)	GABRA5 (R283W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1207653	NM_000810.4(GABRA5):c.871G>C (p.Val291Leu)	GABRA5 (V291L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1285289	NM_000810.4(GABRA5):c.878-27T>A	GABRA5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 79 +1 more	GBenign
Select item 1221362	NM_000810.4(GABRA5):c.878-9C>A	GABRA5	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 79 +1 more	GBenign
Select item 778486	NM_000810.4(GABRA5):c.878-5C>T	GABRA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 689392	NM_000810.4(GABRA5):c.880G>T (p.Val294Phe)	GABRA5 (V294F)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 689391	NM_000810.4(GABRA5):c.880G>C (p.Val294Leu)	GABRA5 (V294L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 79	GPathogenic
Select item 3367417	NM_000810.4(GABRA5):c.887C>T (p.Thr296Met)	GABRA5 (T296M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2429554	NM_000810.4(GABRA5):c.898A>G (p.Met300Val)	GABRA5 (M300V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693318	NM_000810.4(GABRA5):c.902C>T (p.Thr301Met)	GABRA5 (T301M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 801399	NM_000810.4(GABRA5):c.902C>G (p.Thr301Arg)	GABRA5 (T301R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 79 +1 more	GPathogenic/Likely pathogenic
Select item 1252856	NM_000810.4(GABRA5):c.975C>T (p.Ala325=)	GABRA5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 79 +1 more	GBenign
Select item 2432002	NM_000810.4(GABRA5):c.983_988del (p.Tyr328_Ala329del)	GABRA5	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 79	GUncertain significance
Select item 2432003	NM_000810.4(GABRA5):c.990C>T (p.Phe330=)	GABRA5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 79	GUncertain significance
Select item 1385912	NM_000810.4(GABRA5):c.998C>T (p.Ser333Leu)	GABRA5 (S333L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 711949	NM_000810.4(GABRA5):c.1017C>T (p.Ala339=)	GABRA5	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1334695	NM_000810.4(GABRA5):c.1058G>T (p.Gly353Val)	GABRA5 (G353V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305010	NM_000810.4(GABRA5):c.1089G>C (p.Lys363Asn)	GABRA5 (K363N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372197	NM_000810.4(GABRA5):c.1118C>A (p.Ser373Ter)	GABRA5 (S373*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2645028	NM_000810.4(GABRA5):c.1155C>T (p.Pro385=)	GABRA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 983413	NM_000810.4(GABRA5):c.1166C>T (p.Pro389Leu)	GABRA5 (P389L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 79 +1 more	GUncertain significance
Select item 3097820	NM_000810.4(GABRA5):c.1181C>T (p.Pro394Leu)	GABRA5 (P394L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2490140	NM_000810.4(GABRA5):c.1186G>T (p.Gly396Trp)	GABRA5 (G396W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 779744	NM_000810.4(GABRA5):c.1191G>A (p.Thr397=)	GABRA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1694736	NM_000810.4(GABRA5):c.1204T>G (p.Ser402Ala)	GABRA5 (S402A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 3370130	NM_000810.4(GABRA5):c.1205C>T (p.Ser402Leu)	GABRA5 (S402L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 689393	NM_000810.4(GABRA5):c.1238C>T (p.Ser413Phe)	GABRA5 (S413F)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 79	GPathogenic
Select item 2499272	NM_000810.4(GABRA5):c.1268G>A (p.Ser423Asn)	GABRA5 (S423N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645029	NM_000810.4(GABRA5):c.1299C>T (p.Phe433=)	GABRA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710047	NM_000810.4(GABRA5):c.1341G>A (p.Thr447=)	GABRA5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3360275	NM_000810.4(GABRA5):c.732C>G (p.Tyr244Ter)	GABRA5 (Y244*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance

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Items: 75