"Ambry Genetics"[submitter] AND "ABAT"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 460325	NM_020686.6(ABAT):c.25C>T (p.Arg9Cys)	ABAT (R9C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 320839	NM_020686.6(ABAT):c.26G>A (p.Arg9His)	ABAT (R9H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1005042	NM_020686.6(ABAT):c.44A>T (p.Gln15Leu)	ABAT (Q15L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 500996	NM_020686.6(ABAT):c.45G>C (p.Gln15His)	ABAT (Q15H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1451065	NM_020686.6(ABAT):c.55C>A (p.Arg19Ser)	ABAT (R19S)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency +1 more	GUncertain significance
Select item 500579	NM_020686.6(ABAT):c.109G>A (p.Val37Ile)	ABAT (V37I)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 3076585	NM_020686.6(ABAT):c.122A>C (p.Tyr41Ser)	ABAT (Y41S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1060948	NM_020686.6(ABAT):c.208G>T (p.Ala70Ser)	ABAT (A25S +1 more)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency +1 more	GUncertain significance
Select item 321068	NM_020686.6(ABAT):c.317-5C>G	ABAT	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1503220	NM_020686.6(ABAT):c.447G>T (p.Ser149=)	ABAT	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 2237841	NM_020686.6(ABAT):c.535T>A (p.Tyr179Asn)	ABAT (Y211N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 650563	NM_020686.6(ABAT):c.538C>T (p.Arg180Trp)	ABAT (R180W +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1396570	NM_020686.6(ABAT):c.543C>G (p.Ser181Arg)	ABAT (S150R +4 more)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency +2 more	GUncertain significance
Select item 2552690	NM_020686.6(ABAT):c.572A>T (p.Gln191Leu)	ABAT (Q146L +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 859932	NM_020686.6(ABAT):c.643G>A (p.Gly215Ser)	ABAT (G215S +6 more)	Single nucleotide variant (missense variant)	Gamma-aminobutyric acid transaminase deficiency +1 more	GUncertain significance
Select item 2274903	NM_020686.6(ABAT):c.736G>A (p.Ala246Thr)	ABAT (A164T +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 665270	NM_020686.6(ABAT):c.771G>C (p.Glu257Asp)	ABAT (E257D +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3077206	NM_020686.6(ABAT):c.781G>A (p.Glu261Lys)	ABAT (E179K +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1052823	NM_020686.6(ABAT):c.938G>C (p.Arg313Thr)	ABAT (R231T +7 more)	Single nucleotide variant (missense variant)	Gamma-aminobutyric acid transaminase deficiency +1 more	GUncertain significance
Select item 1360579	NM_020686.6(ABAT):c.950G>A (p.Arg317Lys)	ABAT (R235K +7 more)	Single nucleotide variant (missense variant)	Gamma-aminobutyric acid transaminase deficiency +1 more	GUncertain significance
Select item 3267341	NM_020686.6(ABAT):c.1029C>G (p.His343Gln)	ABAT (H330Q +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248670	NM_020686.6(ABAT):c.1033G>A (p.Gly345Ser)	ABAT (G263S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 321083	NM_020686.6(ABAT):c.1054G>A (p.Val352Met)	ABAT (V352M +7 more)	Single nucleotide variant (missense variant)	Gamma-aminobutyric acid transaminase deficiency +1 more	GUncertain significance
Select item 572999	NM_020686.6(ABAT):c.1274G>A (p.Arg425Gln)	ABAT (R425Q +7 more)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency +1 more	GUncertain significance
Select item 1444303	NM_020686.6(ABAT):c.1282C>G (p.Gln428Glu)	ABAT (Q428E +7 more)	Single nucleotide variant (missense variant +1 more)	Gamma-aminobutyric acid transaminase deficiency +1 more	GUncertain significance
Select item 3076658	NM_020686.6(ABAT):c.1346T>C (p.Ile449Thr)	ABAT (I418T +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1007994	NM_020686.6(ABAT):c.1381+6G>T	ABAT	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1924693	NM_020686.6(ABAT):c.1449C>A (p.His483Gln)	ABAT (H417Q +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 29