ClinVar for MedGen (Select 78642) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3233632	NM_000373.4(UMPS):c.188del (p.Asn63fs)	UMPS (N63fs)	Deletion (frameshift variant +1 more)	Cardiomyopathy +1 more	GPathogenic
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 2572440	NM_000373.4(UMPS):c.1213C>T (p.Arg405Ter)	UMPS (R405*)	Single nucleotide variant (nonsense +1 more)	Orotic aciduria +1 more	GConflicting classifications of pathogenicity
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 903611	NM_000373.4(UMPS):c.*882G>C	UMPS	Single nucleotide variant (3 prime UTR 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 903541	NM_000373.4(UMPS):c.799T>C (p.Leu267=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	Orotic aciduria	GUncertain significance
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 902767	NM_000373.4(UMPS):c.*4432A>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 902700	NM_000373.4(UMPS):c.*3326C>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 902641	NM_000373.4(UMPS):c.*2197A>G	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 902639	NM_000373.4(UMPS):c.*2035C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 901922	NM_000373.4(UMPS):c.*5085C>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 901865	NM_000373.4(UMPS):c.*4119T>C	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 901791	NM_000373.4(UMPS):c.*3020G>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GBenign
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 901731	NM_000373.4(UMPS):c.*1853G>A	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 901657	NM_000373.4(UMPS):c.*516A>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
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 901655	NM_000373.4(UMPS):c.*348C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GLikely benign
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 901653	NM_000373.4(UMPS):c.*255T>C	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
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 901374	NM_000373.4(UMPS):c.*4934A>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 901373	NM_000373.4(UMPS):c.*4782G>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 901317	NM_000373.4(UMPS):c.*3785C>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GBenign
Select item 901254	NM_000373.4(UMPS):c.*2783C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 901253	NM_000373.4(UMPS):c.*2741C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 901252	NM_000373.4(UMPS):c.*2718C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GBenign
Select item 901251	NM_000373.4(UMPS):c.*2711G>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
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 901177	NM_000373.4(UMPS):c.*1192C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
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 901113	NM_000373.4(UMPS):c.1158+10G>C	UMPS	Single nucleotide variant (intron variant)	Orotic aciduria	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 900216	NM_000373.4(UMPS):c.*4739G>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GBenign
Select item 900215	NM_000373.4(UMPS):c.*4693G>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 900214	NM_000373.4(UMPS):c.*4672C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 900213	NM_000373.4(UMPS):c.*4638G>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 900212	NM_000373.4(UMPS):c.*4623C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 900211	NM_000373.4(UMPS):c.*4570C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 900151	NM_000373.4(UMPS):c.*3594A>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 900150	NM_000373.4(UMPS):c.*3512C>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 900149	NM_000373.4(UMPS):c.*3494G>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GLikely benign
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 900090	NM_000373.4(UMPS):c.*2552A>G	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 900018	NM_000373.4(UMPS):c.*1100C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	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 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 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 790937	NM_000373.4(UMPS):c.1290A>G (p.Gln430=)	UMPS	Single nucleotide variant (synonymous variant +1 more)	Orotic aciduria +1 more	GConflicting classifications of pathogenicity
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 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 632395	NM_000373.4(UMPS):c.385G>T (p.Gly129Ter)	UMPS (G129*)	Single nucleotide variant (nonsense +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
Select item 343046	NM_000373.4(UMPS):c.*5133del	UMPS	Deletion (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 343045	NM_000373.4(UMPS):c.5120_5124del	UMPS	Deletion (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 343044	NM_000373.4(UMPS):c.*5027A>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 343043	NM_000373.4(UMPS):c.*5014C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GBenign
Select item 343042	NM_000373.4(UMPS):c.*4906G>C	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GBenign
Select item 343041	NM_000373.4(UMPS):c.*4895A>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 343040	NM_000373.4(UMPS):c.*4883C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 343039	NM_000373.4(UMPS):c.*4876C>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GLikely benign
Select item 343038	NM_000373.4(UMPS):c.*4862A>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 343037	NM_000373.4(UMPS):c.4765_4767del	UMPS	Deletion (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 343036	NM_000373.4(UMPS):c.*4755G>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 343035	NM_000373.4(UMPS):c.*4717C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GBenign
Select item 343034	NM_000373.4(UMPS):c.*4511G>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 343033	NM_000373.4(UMPS):c.*4496G>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 343032	NM_000373.4(UMPS):c.*4486G>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GBenign
Select item 343031	NM_000373.4(UMPS):c.*4485G>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GBenign
Select item 343030	NM_000373.4(UMPS):c.*4430C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GBenign
Select item 343029	NM_000373.4(UMPS):c.*4344T>C	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GBenign
Select item 343028	NM_000373.4(UMPS):c.*4316C>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GBenign
Select item 343027	NM_000373.4(UMPS):c.*4278G>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GBenign
Select item 343026	NM_000373.4(UMPS):c.*4263T>C	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 343025	NM_000373.4(UMPS):c.*4252G>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GBenign
Select item 343024	NM_000373.4(UMPS):c.*4231A>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 343023	NM_000373.4(UMPS):c.*4215C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 343022	NM_000373.4(UMPS):c.*4178A>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 343021	NM_000373.4(UMPS):c.*4138T>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GBenign
Select item 343020	NM_000373.4(UMPS):c.*4116G>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 343019	NM_000373.4(UMPS):c.*4078T>C	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GLikely benign
Select item 343018	NM_000373.4(UMPS):c.*4065C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 343017	NM_000373.4(UMPS):c.*4016T>C	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GLikely benign
Select item 343016	NM_000373.4(UMPS):c.*4013ATATA[1]	UMPS	Microsatellite (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 343015	NM_000373.4(UMPS):c.*3990A>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GBenign
Select item 343014	NM_000373.4(UMPS):c.*3732C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GLikely benign
Select item 343013	NM_000373.4(UMPS):c.*3701C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 343012	NM_000373.4(UMPS):c.*3598C>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 343011	NM_000373.4(UMPS):c.*3589C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GBenign
Select item 343010	NM_000373.4(UMPS):c.*3537G>A	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GBenign
Select item 343009	NM_000373.4(UMPS):c.*3495T>C	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 343008	NM_000373.4(UMPS):c.*3447T>C	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GUncertain significance
Select item 343007	NM_000373.4(UMPS):c.*3414A>G	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GBenign
Select item 343006	NM_000373.4(UMPS):c.*3376C>T	UMPS	Single nucleotide variant (3 prime UTR variant +1 more)	Orotic aciduria	GBenign

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