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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 100140	NM_001385.3(DPYS):c.1002G>A (p.Gln334=)	DPYS	Single nucleotide variant (synonymous variant)	DPYS-related disorder +1 more	GBenign/Likely benign
Select item 284276	NM_001385.3(DPYS):c.424-1G>A	DPYS	Single nucleotide variant (splice acceptor variant)	DPYS-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2067524	NM_001385.3(DPYS):c.270T>G (p.Ala90=)	DPYS	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 908928	NM_001385.3(DPYS):c.177C>G (p.Val59=)	DPYS	Single nucleotide variant (synonymous variant)	Dihydropyrimidinase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 721029	NM_001385.3(DPYS):c.29G>A (p.Arg10His)	DPYS (R10H)	Single nucleotide variant (missense variant)	DPYS-related disorder +1 more	GBenign/Likely benign
Select item 100149	NM_001385.3(DPYS):c.19C>G (p.Leu7Val)	DPYS (L7V)	Single nucleotide variant (missense variant)	DPYS-related disorder +2 more	GLikely benign
Select item 361455	NM_001385.3(DPYS):c.17G>A (p.Arg6Gln)	DPYS (R6Q)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency +2 more	GBenign/Likely benign

ClinVar