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

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 255959	NM_000373.4(UMPS):c.88A>G (p.Ser30Gly)	UMPS (S30G)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 501885	NM_000373.4(UMPS):c.126C>A (p.Gly42=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	UMPS-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 3052374	NM_000373.4(UMPS):c.174C>T (p.Phe58=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	UMPS-related disorder	GLikely benign
Select item 784598	NM_000373.4(UMPS):c.495G>A (p.Ala165=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	Orotic aciduria +2 more	GConflicting classifications of pathogenicity
Select item 3050863	NM_000373.4(UMPS):c.525A>G (p.Thr175=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	UMPS-related disorder	GLikely benign
Select item 100127	NM_000373.4(UMPS):c.638G>C (p.Gly213Ala)	UMPS (G213A)	Single nucleotide variant (missense variant +1 more)	Orotic aciduria +2 more	GBenign
Select item 2636201	NM_000373.4(UMPS):c.688C>T (p.Arg230Cys)	UMPS (R230C)	Single nucleotide variant (missense variant +1 more)	UMPS-related disorder +1 more	GUncertain significance
Select item 3040717	NM_000373.4(UMPS):c.1299T>C (p.Asn433=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	UMPS-related disorder	GLikely benign
Select item 255958	NM_000373.4(UMPS):c.1320C>T (p.Gly440=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign