"Genome-Nilou Lab"[submitter] AND "ABAT"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1185352	NM_020686.6(ABAT):c.70+49T>C	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency +1 more	GBenign
Select item 1185366	NM_020686.6(ABAT):c.366+104C>T	ABAT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 321071	NM_020686.6(ABAT):c.448-15T>A	ABAT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185353	NM_020686.6(ABAT):c.667+99C>T	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency +1 more	GBenign
Select item 1185363	NM_020686.6(ABAT):c.667+120del	ABAT	Deletion (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GBenign
Select item 1185364	NM_020686.6(ABAT):c.668-90T>C	ABAT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 321090	NM_020686.6(ABAT):c.1381+9T>C	ABAT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1185365	NM_020686.6(ABAT):c.1381+46C>T	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency +1 more	GBenign
Select item 1185367	NM_020686.6(ABAT):c.1382-119GATG[6]	ABAT	Microsatellite (intron variant)	Gamma-aminobutyric acid transaminase deficiency	GBenign

ClinVar