"GeneDx"[submitter] AND "UMPS"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
Select item 1247946	NC_000003.12:g.124730083T>G	UMPS	Single nucleotide variant	not provided	GBenign
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	Oroticaciduria +1 more	GBenign
Select item 100126	NC_000003.12:g.124730444A>G	UMPS	Single nucleotide variant	Oroticaciduria +1 more	GBenign
Select item 1249492	NM_000373.4(UMPS):c.310+81A>G	UMPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1311700	NM_000373.4(UMPS):c.617T>C (p.Phe206Ser)	UMPS (F206S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 620432	NM_000373.4(UMPS):c.670G>T (p.Glu224Ter)	UMPS (E224*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 342930	NM_000373.4(UMPS):c.857T>A (p.Ile286Asn)	UMPS (I286N)	Single nucleotide variant (missense variant +1 more)	Oroticaciduria +2 more	GConflicting classifications of pathogenicity
Select item 1809913	NM_000373.4(UMPS):c.937C>T (p.Arg313Trp)	UMPS (R313W)	Single nucleotide variant (missense variant +1 more)	Hereditary orotic aciduria, type 1 +1 more	GUncertain significance
Select item 100128	NM_000373.4(UMPS):c.983-55C>G	UMPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 899940	NM_000373.4(UMPS):c.1088G>A (p.Arg363Gln)	UMPS (R363Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 100130	NM_000373.4(UMPS):c.1274-52G>C	UMPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2573717	NM_000373.4(UMPS):c.1324C>T (p.Arg442Ter)	UMPS (R442*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 342935	NM_000373.4(UMPS):c.1336A>G (p.Ile446Val)	UMPS (I446V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 342938	NM_000373.4(UMPS):c.*56del	UMPS	Deletion (3 prime UTR variant +1 more)	Oroticaciduria +1 more	GBenign/Likely benign