UMPS[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	ABTB1, ADCY5 +570 more	Copy number loss	See cases	GPathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC126806792, LOC126806793 +291 more	Copy number loss	See cases	GPathogenic
Select item 57829	GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1	ADCY5, CASR +182 more	Copy number loss	See cases	GPathogenic
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	ADCY5, ALDH1L1 +214 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	Orotic aciduria +1 more	GBenign
Select item 100125	NM_000373.3(UMPS):c.-67T>C	UMPS	Single nucleotide variant	Orotic aciduria +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 3067691	NM_000373.4(UMPS):c.2T>A (p.Met1Lys)	UMPS (M1K)	Single nucleotide variant (missense variant +2 more)	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 2915373	NM_000373.4(UMPS):c.10G>C (p.Ala4Pro)	UMPS (A4P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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)	Orotic aciduria +1 more	GBenign/Likely benign
Select item 1612452	NM_000373.4(UMPS):c.30A>G (p.Pro10=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	Hereditary orotic aciduria, type 1	GLikely benign
Select item 2058578	NM_000373.4(UMPS):c.45G>A (p.Leu15=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	Hereditary orotic aciduria, type 1	GLikely benign
Select item 1503716	NM_000373.4(UMPS):c.56A>T (p.Gln19Leu)	UMPS (Q19L)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary orotic aciduria, type 1	GUncertain significance
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 903540	NM_000373.4(UMPS):c.105C>T (p.Pro35=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	Orotic aciduria	GUncertain significance
Select item 501885	NM_000373.4(UMPS):c.126C>A (p.Gly42=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	Hereditary orotic aciduria, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 2120225	NM_000373.4(UMPS):c.157-20A>T	UMPS	Single nucleotide variant (intron variant)	Hereditary orotic aciduria, type 1	GLikely benign
Select item 1565835	NM_000373.4(UMPS):c.157-4A>G	UMPS	Single nucleotide variant (intron variant)	Hereditary orotic aciduria, type 1	GLikely benign
Select item 3052374	NM_000373.4(UMPS):c.174C>T (p.Phe58=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	UMPS-related condition	GLikely benign
Select item 3233632	NM_000373.4(UMPS):c.188del (p.Asn63fs)	UMPS (N63fs)	Deletion (frameshift variant +1 more)	Cardiomyopathy +1 more	GPathogenic
Select item 738370	NM_000373.4(UMPS):c.210C>T (p.Thr70=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1099905	NM_000373.4(UMPS):c.222G>A (p.Val74=)	UMPS	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary orotic aciduria, type 1	GLikely benign
Select item 1053803	NM_000373.4(UMPS):c.230C>A (p.Thr77Lys)	UMPS (T77K)	Single nucleotide variant (missense variant +1 more)	Hereditary orotic aciduria, type 1	GUncertain significance
Select item 1022377	NM_000373.4(UMPS):c.254T>C (p.Ile85Thr)	UMPS (I85T)	Single nucleotide variant (missense variant +1 more)	Hereditary orotic aciduria, type 1	GUncertain significance
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 1018561	NM_000373.4(UMPS):c.302del (p.Lys101fs)	UMPS (K101fs)	Deletion (frameshift variant +1 more)	Hereditary orotic aciduria, type 1	GUncertain significance
Select item 761258	NM_000373.4(UMPS):c.310+8A>G	UMPS	Single nucleotide variant (intron variant)	Hereditary orotic aciduria, type 1	GLikely benign
Select item 1249492	NM_000373.4(UMPS):c.310+81A>G	UMPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2341156	NM_000373.4(UMPS):c.320G>A (p.Arg107His)	UMPS (R107H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 11907	NM_000373.4(UMPS):c.326T>G (p.Val109Gly)	UMPS (V109G)	Single nucleotide variant (missense variant +1 more)	Orotic aciduria	GPathogenic
Select item 1523090	NM_000373.4(UMPS):c.334A>G (p.Thr112Ala)	UMPS (T112A)	Single nucleotide variant (missense variant +1 more)	Hereditary orotic aciduria, type 1	GUncertain significance
Select item 721414	NM_000373.4(UMPS):c.336T>A (p.Thr112=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1483728	NM_000373.4(UMPS):c.343C>T (p.Pro115Ser)	UMPS (P115S)	Single nucleotide variant (missense variant +1 more)	Hereditary orotic aciduria, type 1	GUncertain significance
Select item 1110557	NM_000373.4(UMPS):c.360A>G (p.Leu120=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GLikely benign
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 2686030	NM_000373.4(UMPS):c.443A>T (p.Asp148Val)	UMPS (D148V)	Single nucleotide variant (missense variant +1 more)	Orotic aciduria	GUncertain significance
Select item 947004	NM_000373.4(UMPS):c.449T>A (p.Ile150Lys)	UMPS (I150K)	Single nucleotide variant (missense variant +1 more)	Hereditary orotic aciduria, type 1	GUncertain significance
Select item 3186440	NM_000373.4(UMPS):c.494C>T (p.Ala165Val)	UMPS (A165V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 724339	NM_000373.4(UMPS):c.498C>T (p.His166=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 641034	NM_000373.4(UMPS):c.499G>A (p.Gly167Arg)	UMPS (G167R)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary orotic aciduria, type 1 +1 more	GUncertain significance
Select item 3050863	NM_000373.4(UMPS):c.525A>G (p.Thr175=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	UMPS-related condition	GLikely benign
Select item 2290122	NM_000373.4(UMPS):c.550G>A (p.Glu184Lys)	UMPS (E184K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2417137	NM_000373.4(UMPS):c.581T>C (p.Val194Ala)	UMPS (V194A)	Single nucleotide variant (missense variant +1 more)	Hereditary orotic aciduria, type 1	GUncertain significance
Select item 3186441	NM_000373.4(UMPS):c.616T>G (p.Phe206Val)	UMPS (F206V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 737042	NM_000373.4(UMPS):c.627G>A (p.Ala209=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	Hereditary orotic aciduria, type 1	GLikely benign
Select item 3186442	NM_000373.4(UMPS):c.635A>G (p.Asn212Ser)	UMPS (N212S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 739441	NM_000373.4(UMPS):c.636T>C (p.Asn212=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 620432	NM_000373.4(UMPS):c.670G>T (p.Glu224Ter)	UMPS (E224*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 712330	NM_000373.4(UMPS):c.681C>T (p.Phe227=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	Hereditary orotic aciduria, type 1	GLikely benign
Select item 2512710	NM_000373.4(UMPS):c.682G>A (p.Gly228Ser)	UMPS (G228S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2636201	NM_000373.4(UMPS):c.688C>T (p.Arg230Cys)	UMPS (R230C)	Single nucleotide variant (missense variant +1 more)	UMPS-related condition +1 more	GUncertain significance
Select item 960686	NM_000373.4(UMPS):c.689G>A (p.Arg230His)	UMPS (R230H)	Single nucleotide variant (missense variant +1 more)	Hereditary orotic aciduria, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 2466074	NM_000373.4(UMPS):c.701C>A (p.Pro234His)	UMPS (P234H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 844353	NM_000373.4(UMPS):c.703A>G (p.Arg235Gly)	UMPS (R235G)	Single nucleotide variant (missense variant +1 more)	Hereditary orotic aciduria, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 2224202	NM_000373.4(UMPS):c.716T>C (p.Val239Ala)	UMPS (V239A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2489848	NM_000373.4(UMPS):c.722C>T (p.Ser241Leu)	UMPS (S241L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 790542	NM_000373.4(UMPS):c.726G>A (p.Lys242=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1417735	NM_000373.4(UMPS):c.740T>G (p.Met247Arg)	UMPS (M247R)	Single nucleotide variant (missense variant +1 more)	Hereditary orotic aciduria, type 1	GUncertain significance
Select item 721322	NM_000373.4(UMPS):c.768A>G (p.Leu256=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2906269	NM_000373.4(UMPS):c.798G>A (p.Leu266=)	UMPS	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary orotic aciduria, type 1	GLikely benign
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)	Inborn genetic diseases +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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1665899	NM_000373.4(UMPS):c.858T>A (p.Ile286=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	Hereditary orotic aciduria, type 1	GLikely benign
Select item 810716	NM_000373.4(UMPS):c.870dup (p.Thr291fs)	UMPS (T291fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 3186443	NM_000373.4(UMPS):c.889G>A (p.Glu297Lys)	UMPS (E297K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1026262	NM_000373.4(UMPS):c.901_902del (p.Leu301fs)	UMPS (L301fs)	Microsatellite (frameshift variant +1 more)	Hereditary orotic aciduria, type 1	GUncertain significance
Select item 2532956	NM_000373.4(UMPS):c.917A>C (p.Glu306Ala)	UMPS (E306A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2287083	NM_000373.4(UMPS):c.921C>A (p.Phe307Leu)	UMPS (F307L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2087043	NM_000373.4(UMPS):c.926T>A (p.Ile309Lys)	UMPS (I309K)	Single nucleotide variant (missense variant +1 more)	Hereditary orotic aciduria, type 1	GUncertain significance
Select item 1809913	NM_000373.4(UMPS):c.937C>T (p.Arg313Trp)	UMPS (R313W)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
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 2554819	NM_000373.4(UMPS):c.958A>G (p.Asn320Asp)	UMPS (N320D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 529220	NM_000373.4(UMPS):c.982+1G>C	UMPS	Single nucleotide variant (splice donor variant)	Hereditary orotic aciduria, type 1	GUncertain significance
Select item 1376598	NM_000373.4(UMPS):c.982+2T>A	UMPS	Single nucleotide variant (splice donor variant)	Hereditary orotic aciduria, type 1	GUncertain significance
Select item 100128	NM_000373.4(UMPS):c.983-55C>G	UMPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 591793	NM_000373.4(UMPS):c.983-2A>G	UMPS	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 728436	NM_000373.4(UMPS):c.1017A>G (p.Leu339=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	Hereditary orotic aciduria, type 1	GLikely benign
Select item 342932	NM_000373.4(UMPS):c.1038A>G (p.Pro346=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	Orotic aciduria +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 943262	NM_000373.4(UMPS):c.1063C>A (p.Gln355Lys)	UMPS (Q355K)	Single nucleotide variant (missense variant +1 more)	Hereditary orotic aciduria, type 1 +2 more	GUncertain significance
Select item 899940	NM_000373.4(UMPS):c.1088G>A (p.Arg363Gln)	UMPS (R363Q)	Single nucleotide variant (missense variant +1 more)	Orotic aciduria +1 more	GUncertain significance
Select item 2654087	NM_000373.4(UMPS):c.1092G>A (p.Gly364=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2408602	NM_000373.4(UMPS):c.1099C>A (p.Leu367Ile)	UMPS (L367I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 523038	NM_000373.4(UMPS):c.1123G>A (p.Gly375Ser)	UMPS (G375S)	Single nucleotide variant (missense variant +1 more)	Orotic aciduria	GLikely pathogenic

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