"GeneDx"[submitter] AND "ABAT"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 59952	GRCh38/hg38 16p13.2(chr16:8544481-8903449)x3	ABAT, CARHSP1 +23 more	Copy number gain	See cases	GUncertain significance
Select item 2507288	NM_020686.6(ABAT):c.8C>A (p.Ser3Tyr)	ABAT (S3Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 386204	NM_020686.6(ABAT):c.158C>T (p.Pro53Leu)	ABAT (P53L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3340857	NM_020686.6(ABAT):c.231C>G (p.Tyr77Ter)	ABAT (Y32* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	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 151587	GRCh38/hg38 16p13.2(chr16:8767999-8939742)x3	ABAT, CARHSP1 +21 more	Copy number gain	See cases	GLikely benign
Select item 1311120	NM_020686.6(ABAT):c.616C>T (p.Pro206Ser)	ABAT (P124S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 423434	NM_020686.6(ABAT):c.991G>A (p.Gly331Arg)	ABAT (G331R +7 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1307524	NM_020686.6(ABAT):c.1183G>A (p.Val395Ile)	ABAT (V313I +7 more)	Single nucleotide variant (missense variant)	Gamma-aminobutyric acid transaminase deficiency +1 more	GUncertain significance
Select item 2663056	NM_020686.6(ABAT):c.1306C>T (p.Arg436Ter)	ABAT (R354* +7 more)	Single nucleotide variant (nonsense +1 more)	Gamma-aminobutyric acid transaminase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 389161	NM_020686.6(ABAT):c.1394G>A (p.Gly465Asp)	ABAT (G465D +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2579783	NM_020686.6(ABAT):c.1417C>T (p.Arg473Cys)	ABAT (R391C +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2579782	NM_020686.6(ABAT):c.1453G>A (p.Ala485Thr)	ABAT (A403T +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 253715	GRCh37/hg19 16p13.2(chr16:8875248-9211047)x3	ABAT, USP7 +4 more	Copy number gain	See cases	GUncertain significance