"Ambry Genetics"[submitter] AND "LOC130000944"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2602493	NM_024812.3(BAALC):c.26A>T (p.Asp9Val)	BAALC, BAALC-AS2 +1 more (D9V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489687	NM_024812.3(BAALC):c.40C>G (p.Arg14Gly)	BAALC, BAALC-AS2 +1 more (R14G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance