"GeneReviews"[submitter] AND "APRT"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 41012	NM_000485.3(APRT):c.448G>T (p.Val150Phe)	APRT (V150F)	Single nucleotide variant (missense variant +1 more)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 18296	NM_000485.3(APRT):c.407T>C (p.Met136Thr)	APRT (M136T)	Single nucleotide variant (missense variant +1 more)	Adenine phosphoribosyltransferase deficiency +1 more	GPathogenic
Select item 203396	NM_000485.3(APRT):c.400+2dup	APRT	Duplication (splice donor variant)	not provided	GConflicting classifications of pathogenicity
Select item 18298	NM_000485.3(APRT):c.294G>A (p.Trp98Ter)	APRT (W98*)	Single nucleotide variant (nonsense)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 18299	NM_000485.3(APRT):c.258_261dup (p.Lys88fs)	APRT (K88fs)	Duplication (frameshift variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic
Select item 18297	NM_000485.3(APRT):c.194A>T (p.Asp65Val)	APRT (D65V)	Single nucleotide variant (missense variant)	Adenine phosphoribosyltransferase deficiency	GPathogenic

ClinVar