ClinVar for Gene (Select 7372) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373080	NM_000373.4(UMPS):c.19G>C (p.Ala7Pro)	UMPS (A7P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3337730	NM_000373.4(UMPS):c.257G>A (p.Cys86Tyr)	UMPS (C86Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3330968	NM_000373.4(UMPS):c.777T>A (p.Asp259Glu)	UMPS (D259E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3330967	NM_000373.4(UMPS):c.106A>G (p.Ile36Val)	UMPS (I36V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3233632	NM_000373.4(UMPS):c.188del (p.Asn63fs)	UMPS (N63fs)	Deletion (frameshift variant +1 more)	Oroticaciduria +1 more	GPathogenic
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 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 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 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 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 3062736	GRCh37/hg19 3q21.2-21.3(chr3:124119718-127457671)x1	ABTB1, ALDH1L1 +26 more	Copy number loss	not specified	GUncertain significance
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 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 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 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 2906269	NM_000373.4(UMPS):c.798G>A (p.Leu266=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	Hereditary orotic aciduria, type 1	GLikely benign
Select item 2738881	NM_000373.4(UMPS):c.1332C>T (p.Ser444=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	Hereditary orotic aciduria, type 1	GLikely benign
Select item 2727525	NM_000373.4(UMPS):c.1325G>A (p.Arg442Gln)	UMPS (R442Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2686030	NM_000373.4(UMPS):c.443A>T (p.Asp148Val)	UMPS (D148V)	Single nucleotide variant (missense variant +1 more)	Oroticaciduria	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 2636201	NM_000373.4(UMPS):c.688C>T (p.Arg230Cys)	UMPS (R230C)	Single nucleotide variant (missense variant +1 more)	Hereditary orotic aciduria, type 1 +1 more	GUncertain significance
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
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 2572440	NM_000373.4(UMPS):c.1213C>T (p.Arg405Ter)	UMPS (R405*)	Single nucleotide variant (nonsense +1 more)	Hereditary orotic aciduria, type 1 +1 more	GConflicting classifications of pathogenicity
Select item 2571182	NM_000373.4(UMPS):c.1146C>T (p.Tyr382=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 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 2475045	NM_000373.4(UMPS):c.1339A>G (p.Ile447Val)	UMPS (I447V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2427161	NC_000003.11:g.(?_123003455)_(125313644_?)dup	ADCY5, CCDC14 +12 more	Duplication	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2423002	NC_000003.11:g.(?_121489192)_(125313644_?)dup	CSTA, ADCY5 +32 more	Duplication	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2422977	NC_000003.11:g.(?_124449319)_(124459066_?)dup	UMPS	Duplication	Hereditary orotic aciduria, type 1	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 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 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 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 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 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 2120225	NM_000373.4(UMPS):c.157-20A>T	UMPS	Single nucleotide variant (intron variant)	Hereditary orotic aciduria, type 1	GLikely benign
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 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 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 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
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 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 1565835	NM_000373.4(UMPS):c.157-4A>G	UMPS	Single nucleotide variant (intron variant)	Hereditary orotic aciduria, type 1	GLikely benign
Select item 1551355	NM_000373.4(UMPS):c.1159-19C>T	UMPS	Single nucleotide variant (intron variant)	Hereditary orotic aciduria, type 1	GLikely benign
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 1503716	NM_000373.4(UMPS):c.56A>T (p.Gln19Leu)	UMPS (Q19L)	Single nucleotide variant (missense variant +1 more)	Hereditary orotic aciduria, type 1	GUncertain significance
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 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
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 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 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 1249492	NM_000373.4(UMPS):c.310+81A>G	UMPS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247946	NC_000003.12:g.124730083T>G	UMPS	Single nucleotide variant	not provided	GBenign
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1110557	NM_000373.4(UMPS):c.360A>G (p.Leu120=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	Hereditary orotic aciduria, type 1 +1 more	GLikely benign
Select item 1110237	NM_000373.4(UMPS):c.1378C>T (p.Leu460=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	Hereditary orotic aciduria, type 1	GLikely benign
Select item 1099905	NM_000373.4(UMPS):c.222G>A (p.Val74=)	UMPS	Single nucleotide variant (synonymous 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 1052913	NM_000373.4(UMPS):c.1147A>G (p.Thr383Ala)	UMPS (T383A)	Single nucleotide variant (missense variant +1 more)	Hereditary orotic aciduria, type 1	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 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 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 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 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 943262	NM_000373.4(UMPS):c.1063C>A (p.Gln355Lys)	UMPS (Q355K)	Single nucleotide variant (missense variant +1 more)	Oroticaciduria +2 more	GUncertain significance
Select item 903611	NM_000373.4(UMPS):c.*882G>C	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Oroticaciduria	GUncertain significance
Select item 903542	NM_000373.4(UMPS):c.811G>C (p.Asp271His)	UMPS (D271H)	Single nucleotide variant (missense variant +1 more)	Oroticaciduria +1 more	GUncertain significance
Select item 903541	NM_000373.4(UMPS):c.799T>C (p.Leu267=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	Oroticaciduria	GUncertain significance
Select item 903540	NM_000373.4(UMPS):c.105C>T (p.Pro35=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	Oroticaciduria	GUncertain significance
Select item 902767	NM_000373.4(UMPS):c.*4432A>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Oroticaciduria	GUncertain significance
Select item 902700	NM_000373.4(UMPS):c.*3326C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Oroticaciduria	GUncertain significance
Select item 902642	NM_000373.4(UMPS):c.*2231G>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Oroticaciduria	GUncertain significance
Select item 902641	NM_000373.4(UMPS):c.*2197A>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Oroticaciduria	GUncertain significance
Select item 902640	NM_000373.4(UMPS):c.*2036A>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Oroticaciduria	GUncertain significance
Select item 902639	NM_000373.4(UMPS):c.*2035C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Oroticaciduria	GUncertain significance
Select item 901922	NM_000373.4(UMPS):c.*5085C>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Oroticaciduria	GUncertain significance
Select item 901865	NM_000373.4(UMPS):c.*4119T>C	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Oroticaciduria	GUncertain significance
Select item 901791	NM_000373.4(UMPS):c.*3020G>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Oroticaciduria	GBenign
Select item 901732	NM_000373.4(UMPS):c.*1931G>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Oroticaciduria	GBenign
Select item 901731	NM_000373.4(UMPS):c.*1853G>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Oroticaciduria	GUncertain significance
Select item 901730	NM_000373.4(UMPS):c.*1843A>C	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Oroticaciduria	GUncertain significance
Select item 901657	NM_000373.4(UMPS):c.*516A>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Oroticaciduria	GUncertain significance
Select item 901656	NM_000373.4(UMPS):c.*469C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Oroticaciduria	GUncertain significance
Select item 901655	NM_000373.4(UMPS):c.*348C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Oroticaciduria	GLikely benign
Select item 901654	NM_000373.4(UMPS):c.*274C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Oroticaciduria	GUncertain significance
Select item 901653	NM_000373.4(UMPS):c.*255T>C	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Oroticaciduria	GUncertain significance
Select item 901652	NM_000373.4(UMPS):c.*37C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 901374	NM_000373.4(UMPS):c.*4934A>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Oroticaciduria	GUncertain significance
Select item 901373	NM_000373.4(UMPS):c.*4782G>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Oroticaciduria	GUncertain significance
Select item 901317	NM_000373.4(UMPS):c.*3785C>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Oroticaciduria	GBenign
Select item 901254	NM_000373.4(UMPS):c.*2783C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Oroticaciduria	GUncertain significance
Select item 901253	NM_000373.4(UMPS):c.*2741C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Oroticaciduria	GUncertain significance
Select item 901252	NM_000373.4(UMPS):c.*2718C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Oroticaciduria	GBenign
Select item 901251	NM_000373.4(UMPS):c.*2711G>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Oroticaciduria	GUncertain significance

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