"PreventionGenetics, part of Exact Sciences"[submitter] AND "ABAT"[gen - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 281798	NM_020686.6(ABAT):c.30G>A (p.Leu10=)	ABAT	Single nucleotide variant (synonymous variant +1 more)	ABAT-related condition +3 more	GBenign/Likely benign
Select item 529794	NM_020686.6(ABAT):c.70+9C>T	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency +1 more	GLikely benign
Select item 529793	NM_020686.6(ABAT):c.366+10G>A	ABAT	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 283525	NM_020686.6(ABAT):c.641T>C (p.Met214Thr)	ABAT (M214T +6 more)	Single nucleotide variant (missense variant)	not specified +3 more	GLikely benign
Select item 1123601	NM_020686.6(ABAT):c.1005G>A (p.Thr335=)	ABAT	Single nucleotide variant (synonymous variant)	ABAT-related condition +1 more	GLikely benign
Select item 585340	NM_020686.6(ABAT):c.1186A>G (p.Ile396Val)	ABAT (I396V +7 more)	Single nucleotide variant (missense variant)	Gamma-aminobutyric acid transaminase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 578433	NM_020686.6(ABAT):c.1269+6A>G	ABAT	Single nucleotide variant (intron variant)	Gamma-aminobutyric acid transaminase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 321091	NM_020686.6(ABAT):c.1452C>T (p.His484=)	ABAT (T447M +1 more)	Single nucleotide variant (synonymous variant +1 more)	ABAT-related condition +2 more	GBenign