C0342803[trait identifier] AND "OMIM"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 909729	NM_001385.3(DPYS):c.1469G>A (p.Arg490His)	DPYS (R490H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 185	NM_001385.3(DPYS):c.1303G>A (p.Gly435Arg)	DPYS (G435R)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency	GPathogenic
Select item 187	NM_001385.3(DPYS):c.1235G>T (p.Arg412Met)	DPYS (R412M)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency	GPathogenic
Select item 186	NM_001385.3(DPYS):c.1078T>C (p.Trp360Arg)	DPYS (W360R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 184	NM_001385.3(DPYS):c.1001A>G (p.Gln334Arg)	DPYS (Q334R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 972724	NM_001385.3(DPYS):c.750G>A (p.Met250Ile)	DPYS (M250I)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency	GPathogenic
Select item 972740	NM_001385.3(DPYS):c.175G>T (p.Val59Phe)	DPYS (V59F)	Single nucleotide variant (missense variant)	Dihydropyrimidinase deficiency	GPathogenic

ClinVar