"Illumina Laboratory Services, Illumina"[submitter] AND "UMPS"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 100124	NM_000373.3(UMPS):c.-110A>G	UMPS	Single nucleotide variant	not provided +1 more	GBenign
Select item 100125	NM_000373.3(UMPS):c.-67T>C	UMPS	Single nucleotide variant	not provided +1 more	GBenign
Select item 100126	NM_000373.3(UMPS):c.-28A>G	UMPS	Single nucleotide variant	Orotic aciduria +1 more	GBenign
Select item 342925	NM_000373.4(UMPS):c.-19A>G	UMPS	Single nucleotide variant (5 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342926	NM_000373.4(UMPS):c.18A>G (p.Ala6=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	Hereditary orotic aciduria, type 1 +1 more	GBenign/Likely benign
Select item 342927	NM_000373.4(UMPS):c.21T>C (p.Ala7=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	Hereditary orotic aciduria, type 1 +1 more	GBenign/Likely benign
Select item 255959	NM_000373.4(UMPS):c.88A>G (p.Ser30Gly)	UMPS (S30G)	Single nucleotide variant (missense variant +1 more)	Hereditary orotic aciduria, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 903540	NM_000373.4(UMPS):c.105C>T (p.Pro35=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	Orotic aciduria	GUncertain significance
Select item 632395	NM_000373.4(UMPS):c.385G>T (p.Gly129Ter)	UMPS (G129*)	Single nucleotide variant (nonsense +1 more)	Orotic aciduria	GUncertain significance
Select item 342928	NM_000373.4(UMPS):c.441T>C (p.Thr147=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	Orotic aciduria	GUncertain significance
Select item 784598	NM_000373.4(UMPS):c.495G>A (p.Ala165=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	UMPS-related condition +2 more	GConflicting classifications of pathogenicity
Select item 100127	NM_000373.4(UMPS):c.638G>C (p.Gly213Ala)	UMPS (G213A)	Single nucleotide variant (missense variant +1 more)	Hereditary orotic aciduria, type 1 +2 more	GBenign
Select item 721322	NM_000373.4(UMPS):c.768A>G (p.Leu256=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	Orotic aciduria +1 more	GConflicting classifications of pathogenicity
Select item 903541	NM_000373.4(UMPS):c.799T>C (p.Leu267=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	Orotic aciduria	GUncertain significance
Select item 903542	NM_000373.4(UMPS):c.811G>C (p.Asp271His)	UMPS (D271H)	Single nucleotide variant (missense variant +1 more)	Orotic aciduria +1 more	GUncertain significance
Select item 342929	NM_000373.4(UMPS):c.827G>A (p.Ser276Asn)	UMPS (S276N)	Single nucleotide variant (missense variant +1 more)	Hereditary orotic aciduria, type 1 +1 more	GUncertain significance
Select item 342930	NM_000373.4(UMPS):c.857T>A (p.Ile286Asn)	UMPS (I286N)	Single nucleotide variant (missense variant +1 more)	Hereditary orotic aciduria, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 342931	NM_000373.4(UMPS):c.953T>C (p.Ile318Thr)	UMPS (I318T)	Single nucleotide variant (missense variant +1 more)	Orotic aciduria +1 more	GUncertain significance
Select item 342932	NM_000373.4(UMPS):c.1038A>G (p.Pro346=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	Hereditary orotic aciduria, type 1 +1 more	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 +1 more	GBenign
Select item 899939	NM_000373.4(UMPS):c.1052T>C (p.Val351Ala)	UMPS (V351A)	Single nucleotide variant (missense variant +1 more)	Orotic aciduria	GUncertain significance
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 899941	NM_000373.4(UMPS):c.1117T>G (p.Ser373Ala)	UMPS (S373A)	Single nucleotide variant (missense variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342933	NM_000373.4(UMPS):c.1157C>T (p.Ala386Val)	UMPS (A386V)	Single nucleotide variant (missense variant +1 more)	Hereditary orotic aciduria, type 1 +2 more	GUncertain significance
Select item 901112	NM_000373.4(UMPS):c.1158G>A (p.Ala386=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	Orotic aciduria	GUncertain significance
Select item 901113	NM_000373.4(UMPS):c.1158+10G>C	UMPS	Single nucleotide variant (intron variant)	Orotic aciduria	GUncertain significance
Select item 342934	NM_000373.4(UMPS):c.1273+14C>T	UMPS	Single nucleotide variant (intron variant)	Hereditary orotic aciduria, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 790937	NM_000373.4(UMPS):c.1290A>G (p.Gln430=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	Hereditary orotic aciduria, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 901114	NM_000373.4(UMPS):c.1316T>C (p.Ile439Thr)	UMPS (I439T)	Single nucleotide variant (missense variant +1 more)	Orotic aciduria	GUncertain significance
Select item 255958	NM_000373.4(UMPS):c.1320C>T (p.Gly440=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	Hereditary orotic aciduria, type 1 +2 more	GBenign
Select item 342935	NM_000373.4(UMPS):c.1336A>G (p.Ile446Val)	UMPS (I446V)	Single nucleotide variant (missense variant +1 more)	Hereditary orotic aciduria, type 1 +2 more	GBenign
Select item 342936	NM_000373.4(UMPS):c.1374T>C (p.Asp458=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	Hereditary orotic aciduria, type 1 +1 more	GBenign/Likely benign
Select item 342937	NM_000373.4(UMPS):c.*28A>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary orotic aciduria, type 1 +1 more	GBenign
Select item 901652	NM_000373.4(UMPS):c.*37C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342938	NM_000373.4(UMPS):c.*56del	UMPS	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 901653	NM_000373.4(UMPS):c.*255T>C	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 901654	NM_000373.4(UMPS):c.*274C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 901655	NM_000373.4(UMPS):c.*348C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GLikely benign
Select item 901656	NM_000373.4(UMPS):c.*469C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 901657	NM_000373.4(UMPS):c.*516A>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342939	NM_000373.4(UMPS):c.*526A>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GBenign
Select item 342940	NM_000373.4(UMPS):c.*691C>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342941	NM_000373.4(UMPS):c.*725A>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GBenign
Select item 342942	NM_000373.4(UMPS):c.*726C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GBenign
Select item 342943	NM_000373.4(UMPS):c.*814C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342944	NM_000373.4(UMPS):c.*868del	UMPS	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 903611	NM_000373.4(UMPS):c.*882G>C	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342945	NM_000373.4(UMPS):c.*983C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GBenign
Select item 342946	NM_000373.4(UMPS):c.*993A>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GBenign
Select item 342947	NM_000373.4(UMPS):c.*1050C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342948	NM_000373.4(UMPS):c.*1051G>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GBenign
Select item 342949	NM_000373.4(UMPS):c.*1080A>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342950	NM_000373.4(UMPS):c.*1088T>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GBenign
Select item 900018	NM_000373.4(UMPS):c.*1100C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 900019	NM_000373.4(UMPS):c.*1128G>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342951	NM_000373.4(UMPS):c.*1153C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342952	NM_000373.4(UMPS):c.*1155T>C	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GLikely benign
Select item 901177	NM_000373.4(UMPS):c.*1192C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342953	NM_000373.4(UMPS):c.*1211C>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GBenign
Select item 901178	NM_000373.4(UMPS):c.*1249C>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342955	NM_000373.4(UMPS):c.1298_1299del	UMPS	Deletion (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342954	NM_000373.4(UMPS):c.*1299del	UMPS	Deletion (3 prime UTR variant +1 more)	Orotic aciduria	GBenign
Select item 342956	NM_000373.4(UMPS):c.1306_1307del	UMPS	Deletion (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342957	NM_000373.4(UMPS):c.*1319G>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GBenign
Select item 342958	NM_000373.4(UMPS):c.*1326C>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GBenign
Select item 342959	NM_000373.4(UMPS):c.*1342C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342960	NM_000373.4(UMPS):c.*1349G>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GLikely benign
Select item 342961	NM_000373.4(UMPS):c.*1418T>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342962	NM_000373.4(UMPS):c.*1517C>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342963	NM_000373.4(UMPS):c.*1520del	UMPS	Deletion (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342964	NM_000373.4(UMPS):c.*1535G>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342965	NM_000373.4(UMPS):c.*1711T>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GBenign
Select item 342966	NM_000373.4(UMPS):c.*1840A>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 901730	NM_000373.4(UMPS):c.*1843A>C	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 901731	NM_000373.4(UMPS):c.*1853G>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342967	NM_000373.4(UMPS):c.*1902G>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 901732	NM_000373.4(UMPS):c.*1931G>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GBenign
Select item 902639	NM_000373.4(UMPS):c.*2035C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 902640	NM_000373.4(UMPS):c.*2036A>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342968	NM_000373.4(UMPS):c.*2054A>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342969	NM_000373.4(UMPS):c.*2159C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342970	NM_000373.4(UMPS):c.*2172A>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 902641	NM_000373.4(UMPS):c.*2197A>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342971	NM_000373.4(UMPS):c.*2202del	UMPS	Deletion (3 prime UTR variant +1 more)	Orotic aciduria	GLikely benign
Select item 342972	NM_000373.4(UMPS):c.*2230C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 902642	NM_000373.4(UMPS):c.*2231G>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342973	NM_000373.4(UMPS):c.*2356T>C	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342974	NM_000373.4(UMPS):c.2410_2412del	UMPS	Deletion (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342975	NM_000373.4(UMPS):c.*2412GAA[1]	UMPS	Microsatellite (3 prime UTR variant +1 more)	Orotic aciduria	GLikely benign
Select item 900090	NM_000373.4(UMPS):c.*2552A>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342976	NM_000373.4(UMPS):c.*2605G>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342977	NM_000373.4(UMPS):c.*2614G>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GBenign
Select item 900091	NM_000373.4(UMPS):c.*2631C>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342978	NM_000373.4(UMPS):c.*2632C>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342985	NM_000373.4(UMPS):c.*2672TG[26]	UMPS	Microsatellite (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342982	NM_000373.4(UMPS):c.*2672TG[25]	UMPS	Microsatellite (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342981	NM_000373.4(UMPS):c.*2672TG[24]	UMPS	Microsatellite (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342980	NM_000373.4(UMPS):c.*2672TG[22]	UMPS	Microsatellite (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342979	NM_000373.4(UMPS):c.*2671T>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 342984	NM_000373.4(UMPS):c.*2672TG[18]	UMPS	Microsatellite (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance

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