"Diasio Lab, Mayo Clinic"[submitter] AND "UMPS"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 100124	NM_000373.3(UMPS):c.-110A>G	UMPS	Single nucleotide variant	Oroticaciduria +1 more	GBenign
Select item 100125	NC_000003.12:g.124730405T>C	UMPS	Single nucleotide variant	not provided +1 more	GBenign
Select item 100126	NC_000003.12:g.124730444A>G	UMPS	Single nucleotide variant	Oroticaciduria +1 more	GBenign
Select item 100127	NM_000373.4(UMPS):c.638G>C (p.Gly213Ala)	UMPS (G213A)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 100128	NM_000373.4(UMPS):c.983-55C>G	UMPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 100129	NM_000373.4(UMPS):c.1050T>A (p.Val350=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	Hereditary orotic aciduria, type 1 +2 more	GBenign
Select item 100130	NM_000373.4(UMPS):c.1274-52G>C	UMPS	Single nucleotide variant (intron variant)	not provided	GBenign
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