ClinVar for MedGen (Select 137977) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3019708	NM_020686.6(ABAT):c.817-18_817-17del	ABAT	Deletion (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 3016057	NM_020686.6(ABAT):c.199-6T>C	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2983329	NM_020686.6(ABAT):c.816+9C>G	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2955621	NM_020686.6(ABAT):c.439T>C (p.Leu147=)	ABAT	Single nucleotide variant (synonymous variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2916587	NM_020686.6(ABAT):c.954+8G>A	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2914210	NM_020686.6(ABAT):c.1182G>A (p.Glu394=)	ABAT	Single nucleotide variant (synonymous variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2908514	NM_020686.6(ABAT):c.70+9C>G	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2901000	NM_020686.6(ABAT):c.71-10T>C	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2895656	NM_020686.6(ABAT):c.70+13G>C	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2893669	NM_020686.6(ABAT):c.1168C>T (p.Leu390=)	ABAT	Single nucleotide variant (synonymous variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2891778	NM_020686.6(ABAT):c.303C>T (p.Ser101=)	ABAT	Single nucleotide variant (synonymous variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2888764	NM_020686.6(ABAT):c.317-18dup	ABAT	Duplication (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2884657	NM_020686.6(ABAT):c.1248C>T (p.Leu416=)	ABAT	Single nucleotide variant (synonymous variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2882739	NM_020686.6(ABAT):c.604-18G>C	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2872097	NM_020686.6(ABAT):c.604-17A>T	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2868903	NM_020686.6(ABAT):c.540+16C>A	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2858671	NM_020686.6(ABAT):c.667+7A>C	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2856265	NM_020686.6(ABAT):c.540+17A>G	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2853440	NM_020686.6(ABAT):c.228T>C (p.Asn76=)	ABAT	Single nucleotide variant (synonymous variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2845865	NM_020686.6(ABAT):c.667+13C>T	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2838923	NM_020686.6(ABAT):c.1461G>A (p.Leu487=)	ABAT (C507Y +1 more)	Single nucleotide variant (synonymous variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2833335	NM_020686.6(ABAT):c.199-13T>C	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2821740	NM_020686.6(ABAT):c.1425T>A (p.Arg475=)	ABAT (V495D +1 more)	Single nucleotide variant (synonymous variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2821242	NM_020686.6(ABAT):c.1374A>G (p.Arg458=)	ABAT	Single nucleotide variant (synonymous variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2819383	NM_020686.6(ABAT):c.345C>T (p.Leu115=)	ABAT	Single nucleotide variant (synonymous variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2816333	NM_020686.6(ABAT):c.70+14G>A	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2815575	NM_020686.6(ABAT):c.970T>C (p.Leu324=)	ABAT	Single nucleotide variant (synonymous variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2812237	NM_020686.6(ABAT):c.1227C>A (p.Ala409=)	ABAT	Single nucleotide variant (synonymous variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2806797	NM_020686.6(ABAT):c.748C>A (p.Arg250=)	ABAT	Single nucleotide variant (synonymous variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2803382	NM_020686.6(ABAT):c.264G>A (p.Val88=)	ABAT	Single nucleotide variant (synonymous variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2803087	NM_020686.6(ABAT):c.378C>T (p.Val126=)	ABAT	Single nucleotide variant (synonymous variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2802012	NM_020686.6(ABAT):c.1260G>A (p.Leu420=)	ABAT	Single nucleotide variant (synonymous variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2796575	NM_020686.6(ABAT):c.1036C>T (p.Leu346=)	ABAT	Single nucleotide variant (synonymous variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2784043	NM_020686.6(ABAT):c.1123-18A>G	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2782158	NM_020686.6(ABAT):c.615C>T (p.Cys205=)	ABAT	Single nucleotide variant (synonymous variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2780670	NM_020686.6(ABAT):c.1152G>T (p.Gly384=)	ABAT	Single nucleotide variant (synonymous variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2780520	NM_020686.6(ABAT):c.36C>T (p.Cys12=)	ABAT	Single nucleotide variant (synonymous variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2766851	NM_020686.6(ABAT):c.541-5T>C	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2757509	NM_020686.6(ABAT):c.1170G>C (p.Leu390=)	ABAT	Single nucleotide variant (synonymous variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2756266	NM_020686.6(ABAT):c.198+9_198+10insT	ABAT	Insertion (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2740431	NM_020686.6(ABAT):c.612C>A (p.Gly204=)	ABAT	Single nucleotide variant (synonymous variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2733754	NM_020686.6(ABAT):c.1270-11T>C	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2733677	NM_020686.6(ABAT):c.816+12A>G	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2732706	NM_020686.6(ABAT):c.71-4G>A	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2722614	NM_020686.6(ABAT):c.1368T>A (p.Ile456=)	ABAT	Single nucleotide variant (synonymous variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2706591	NM_020686.6(ABAT):c.997G>C (p.Gly333Arg)	ABAT (G267R +7 more)	Single nucleotide variant (missense variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2706590	NM_020686.6(ABAT):c.199A>T (p.Asn67Tyr)	ABAT (N22Y +1 more)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2704762	NM_020686.6(ABAT):c.186G>C (p.Leu62=)	ABAT (E30Q)	Single nucleotide variant (synonymous variant +2 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2702636	NM_020686.6(ABAT):c.1270-17G>T	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2680763	NM_020686.6(ABAT):c.181C>T (p.Gln61Ter)	ABAT (Q16* +2 more)	Single nucleotide variant (nonsense +2 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely pathogenic
Select item 2680570	NM_020686.6(ABAT):c.864dup (p.Gly289fs)	ABAT (G207fs +7 more)	Duplication (frameshift variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely pathogenic
Select item 2680333	NM_020686.6(ABAT):c.1297del (p.Arg432_Val433insTer)	ABAT	Deletion (nonsense +1 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely pathogenic
Select item 2680246	NM_020686.6(ABAT):c.817-1G>T	ABAT	Single nucleotide variant (splice acceptor variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely pathogenic
Select item 2680108	NM_020686.6(ABAT):c.145G>T (p.Glu49Ter)	ABAT (E4* +1 more)	Single nucleotide variant (nonsense +1 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely pathogenic
Select item 2679680	NM_020686.6(ABAT):c.615C>A (p.Cys205Ter)	ABAT (C123* +6 more)	Single nucleotide variant (nonsense)	Gamma-aminobutyric acid transaminase deficiency	GLikely pathogenic
Select item 2677578	NM_020686.6(ABAT):c.1094_1097dup (p.Lys367fs)	ABAT (K285fs +7 more)	Duplication (frameshift variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely pathogenic
Select item 2675103	NM_020686.6(ABAT):c.668-2A>C	ABAT	Single nucleotide variant (splice acceptor variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely pathogenic
Select item 2674703	NM_020686.6(ABAT):c.4dup (p.Ala2fs)	ABAT (A2fs)	Duplication (frameshift variant +2 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely pathogenic
Select item 2674702	NM_020686.6(ABAT):c.22C>T (p.Gln8Ter)	ABAT (Q8*)	Single nucleotide variant (nonsense +1 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely pathogenic
Select item 2663056	NM_020686.6(ABAT):c.1306C>T (p.Arg436Ter)	ABAT (R354* +7 more)	Single nucleotide variant (nonsense +1 more)	Gamma-aminobutyric acid transaminase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2506561	GRCh37/hg19 16p13.2(chr16:8841965-8851663)	ABAT	Copy number loss	Gamma-aminobutyric acid transaminase deficiency	GLikely pathogenic
Select item 2426579	NC_000016.9:g.(?_8829597)_(8829686_?)dup	ABAT	Duplication	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2426578	NC_000016.9:g.(?_8829597)_(8875287_?)dup	ABAT	Duplication	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2426577	NC_000016.9:g.(?_8841945)_(8941682_?)dup	ABAT, PMM2 +1 more	Duplication	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2426576	NC_000016.9:g.(?_8829597)_(8858707_?)dup	ABAT	Duplication	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2426575	NC_000016.9:g.(?_8829597)_(8839975_?)dup	ABAT	Duplication	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2426574	NC_000016.9:g.(?_8873316)_(8875287_?)dup	ABAT	Duplication	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2426573	NC_000016.9:g.(?_8857906)_(8862850_?)del	ABAT	Deletion	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2426572	NC_000016.9:g.(?_8851594)_(9017290_?)del	ABAT, CARHSP1 +3 more	Deletion	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2426571	NC_000016.9:g.(?_8839838)_(8870367_?)del	ABAT	Deletion	Gamma-aminobutyric acid transaminase deficiency	GPathogenic
Select item 2201336	NM_020686.6(ABAT):c.513C>T (p.Ala171=)	ABAT	Single nucleotide variant (synonymous variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2199470	NM_020686.6(ABAT):c.1092C>A (p.Phe364Leu)	ABAT (F298L +7 more)	Single nucleotide variant (missense variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2199377	NM_020686.6(ABAT):c.317-15C>T	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2199309	NM_020686.6(ABAT):c.1045C>T (p.Pro349Ser)	ABAT (P267S +7 more)	Single nucleotide variant (missense variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2196203	NM_020686.6(ABAT):c.434A>T (p.Gln145Leu)	ABAT (Q177L +3 more)	Single nucleotide variant (missense variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2195832	NM_020686.6(ABAT):c.667+15T>G	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2195325	NM_020686.6(ABAT):c.198+16G>A	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2194407	NM_020686.6(ABAT):c.1369G>A (p.Ala457Thr)	ABAT (A375T +7 more)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2193678	NM_020686.6(ABAT):c.842G>A (p.Arg281Gln)	ABAT (R199Q +6 more)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2186988	NM_020686.6(ABAT):c.1122+11G>C	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2185219	NM_020686.6(ABAT):c.677C>G (p.Ala226Gly)	ABAT (A144G +6 more)	Single nucleotide variant (missense variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2183428	NM_020686.6(ABAT):c.1336G>A (p.Asp446Asn)	ABAT (D380N +7 more)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2182692	NM_020686.6(ABAT):c.630C>T (p.Ile210=)	ABAT	Single nucleotide variant (synonymous variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2180717	NM_020686.6(ABAT):c.70+9del	ABAT	Deletion (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GBenign
Select item 2173862	NM_020686.6(ABAT):c.588G>C (p.Thr196=)	ABAT	Single nucleotide variant (synonymous variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2162758	NM_020686.6(ABAT):c.1273C>T (p.Arg425Trp)	ABAT (R380W +7 more)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2161101	NM_020686.6(ABAT):c.660G>A (p.Arg220=)	ABAT	Single nucleotide variant (synonymous variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2154610	NM_020686.6(ABAT):c.1492G>A (p.Asp498Asn)	ABAT (D416N +7 more)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2154477	NM_020686.6(ABAT):c.604-6T>A	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2154243	NM_020686.6(ABAT):c.1172T>C (p.Leu391Ser)	ABAT (L360S +7 more)	Single nucleotide variant (missense variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2153833	NM_020686.6(ABAT):c.1382-16C>T	ABAT	Single nucleotide variant (synonymous variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2152828	NM_020686.6(ABAT):c.945C>A (p.Ile315=)	ABAT	Single nucleotide variant (synonymous variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2151235	NM_020686.6(ABAT):c.748C>G (p.Arg250Gly)	ABAT (R184G +6 more)	Single nucleotide variant (missense variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2150821	NM_020686.6(ABAT):c.1233C>A (p.Ala411=)	ABAT	Single nucleotide variant (synonymous variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2150559	NM_020686.6(ABAT):c.214C>A (p.His72Asn)	ABAT (H27N +1 more)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2149558	NM_020686.6(ABAT):c.1296G>A (p.Arg432=)	ABAT	Single nucleotide variant (synonymous variant +1 more)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2149340	NM_020686.6(ABAT):c.1194C>T (p.Ile398=)	ABAT	Single nucleotide variant (synonymous variant)	Gamma-aminobutyric acid transaminase deficiency	GLikely benign
Select item 2146970	NM_020686.6(ABAT):c.493T>G (p.Ser165Ala)	ABAT (S197A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2146253	NM_020686.6(ABAT):c.447G>A (p.Ser149=)	ABAT	Single nucleotide variant (synonymous variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2142258	NM_020686.6(ABAT):c.693A>T (p.Lys231Asn)	ABAT (K210N +6 more)	Single nucleotide variant (missense variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance

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