Related gene-specific medical variations for Gene (Select 60496) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2590629	NM_015423.3(AASDHPPT):c.35C>T (p.Pro12Leu)	AASDHPPT, LOC130006679 (P12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405412	NM_015423.3(AASDHPPT):c.34C>T (p.Pro12Ser)	AASDHPPT, LOC130006679 (P12S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351183	NM_015423.3(AASDHPPT):c.140G>A (p.Arg47His)	AASDHPPT, LOC130006679 (R47H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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