"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ABAT"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 321072	NM_020686.6(ABAT):c.540+14CA[12]	ABAT	Microsatellite (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GBenign/Likely benign
Select item 1170155	NM_020686.6(ABAT):c.540+14CA[10]	ABAT	Microsatellite (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GBenign/Likely benign
Select item 639628	NM_020686.6(ABAT):c.677C>T (p.Ala226Val)	ABAT (A226V +6 more)	Single nucleotide variant (missense variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 1516313	NM_020686.6(ABAT):c.816+19G>A	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GConflicting classifications of pathogenicity
Select item 445320	NM_020686.6(ABAT):c.954+16C>T	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency +1 more	GBenign/Likely benign

ClinVar