Related gene-specific medical variations for Gene (Select 7372) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 591793	NM_000373.4(UMPS):c.983-2A>G	UMPS	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 591440	NM_000373.4(UMPS):c.2T>C (p.Met1Thr)	UMPS (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 523038	NM_000373.4(UMPS):c.1123G>A (p.Gly375Ser)	UMPS (G375S)	Single nucleotide variant (missense variant +1 more)	Orotic aciduria	GLikely pathogenic
Select item 242793	NM_000373.4(UMPS):c.286A>G (p.Arg96Gly)	UMPS (R96G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 242722	NM_000373.4(UMPS):c.1285G>C (p.Gly429Arg)	UMPS (G429R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 100131	NM_000373.4(UMPS):c.1408G>T (p.Ala470Ser)	UMPS (A470S)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided

ClinVar