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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 464829	NM_033453.4(ITPA):c.233A>G (p.Asn78Ser)	ITPA (N78S +2 more)	Single nucleotide variant (missense variant +2 more)	Inosine triphosphatase deficiency +2 more	GBenign/Likely benign
Select item 464830	NM_033453.4(ITPA):c.291T>G (p.Pro97=)	ITPA	Single nucleotide variant (synonymous variant +2 more)	Inosine triphosphatase deficiency +1 more	GBenign/Likely benign
Select item 1158894	NM_033453.4(ITPA):c.492C>T (p.Tyr164=)	ITPA (T52M)	Single nucleotide variant (synonymous variant +3 more)	Inosine triphosphatase deficiency +1 more	GLikely benign
Select item 2045104	NM_033453.4(ITPA):c.519del (p.Asn173fs)	ITPA (N132fs +3 more)	Deletion (frameshift variant +2 more)	ITPA-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 660271	NM_033453.4(ITPA):c.523G>C (p.Val175Leu)	ITPA (V134L +2 more)	Single nucleotide variant (missense variant +3 more)	Inosine triphosphatase deficiency +1 more	GUncertain significance
Select item 218090	NM_033453.4(ITPA):c.532C>T (p.Arg178Cys)	ITPA (R178C +2 more)	Single nucleotide variant (missense variant +3 more)	Inosine triphosphatase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 3035201	NM_033453.4(ITPA):c.*40G>C	ITPA (W224C +1 more)	Single nucleotide variant (3 prime UTR variant +3 more)	ITPA-related disorder	GBenign

ClinVar