"Laboratory of Medical Genetics, National & Kapodistrian University of - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1698380	NM_020686.6(ABAT):c.1153G>T (p.Asp385Tyr)	ABAT (D303Y +7 more)	Single nucleotide variant (missense variant)	Gamma-aminobutyric acid transaminase deficiency	GUncertain significance
Select item 2506561	GRCh37/hg19 16p13.2(chr16:8841965-8851663)	ABAT	Copy number loss	Gamma-aminobutyric acid transaminase deficiency	GLikely pathogenic
Select item 1698381	NM_020686.6:c.(168+1_169-1)_(366+1_367-1)del	ABAT	Deletion	Gamma-aminobutyric acid transaminase deficiency	GLikely pathogenic

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