C0268583[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 369347	NM_032601.3(MCEE):c.*300T>A	MCEE	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 336934	NM_032601.4(MCEE):c.120_121del	MCEE	Deletion (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 2343	NM_032601.4(MCEE):c.139C>T (p.Arg47Ter)	MCEE (R47*)	Single nucleotide variant (nonsense)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency +3 more	GPathogenic
Select item 336941	NM_032601.3(MCEE):c.-36C>G	MCEE	Single nucleotide variant	Methylmalonic acidemia	GUncertain significance
Select item 3160	NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)	MMAA (R145*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria, cblA type +4 more	GPathogenic/Likely pathogenic
Select item 347600	NM_172250.3(MMAA):c.597G>A (p.Glu199=)	MMAA	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 347601	NM_172250.3(MMAA):c.630A>G (p.Pro210=)	MMAA	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 347603	NM_172250.3(MMAA):c.904A>T (p.Ile302Leu)	MMAA (I302L)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type	GUncertain significance
Select item 347620	NM_172250.3(MMAA):c.*589C>G	MMAA	Single nucleotide variant (3 prime UTR variant)	Methylmalonic acidemia	GUncertain significance
Select item 347631	NM_172250.3(MMAA):c.*1838G>A	MMAA	Single nucleotide variant (3 prime UTR variant)	Methylmalonic acidemia	GUncertain significance
Select item 347632	NM_172250.3(MMAA):c.1897_1901del	MMAA	Deletion (3 prime UTR variant)	Methylmalonic acidemia	GUncertain significance
Select item 347635	NM_172250.3(MMAA):c.*1952dup	MMAA	Duplication (3 prime UTR variant)	Methylmalonic acidemia	GLikely benign
Select item 347638	NM_172250.3(MMAA):c.*2019A>G	MMAA	Single nucleotide variant (3 prime UTR variant)	Methylmalonic acidemia	GUncertain significance
Select item 347648	NM_172250.3(MMAA):c.*2617C>A	MMAA	Single nucleotide variant (3 prime UTR variant)	Methylmalonic acidemia	GUncertain significance
Select item 347649	NM_172250.3(MMAA):c.2622_2625del	MMAA	Deletion (3 prime UTR variant)	Methylmalonic acidemia	GLikely benign
Select item 347661	NM_172250.3(MMAA):c.*3257del	MMAA	Deletion (3 prime UTR variant)	Methylmalonic acidemia	GUncertain significance
Select item 347662	NM_172250.3(MMAA):c.*3274del	MMAA	Deletion (3 prime UTR variant)	Methylmalonic acidemia	GLikely benign
Select item 347664	NM_172250.3(MMAA):c.*3356del	MMAA	Deletion (3 prime UTR variant)	Methylmalonic acidemia	GUncertain significance
Select item 347669	NM_172250.3(MMAA):c.*4119del	MMAA	Deletion (3 prime UTR variant)	Methylmalonic acidemia	GLikely benign
Select item 357238	NM_000255.4(MMUT):c.*1107dup	MMUT	Duplication (3 prime UTR variant)	Methylmalonic acidemia	GLikely benign
Select item 357247	NM_000255.4(MMUT):c.*201del	MMUT	Deletion (3 prime UTR variant)	Methylmalonic acidemia +1 more	GBenign/Likely benign
Select item 357249	NM_000255.4(MMUT):c.*162A>C	MMUT	Single nucleotide variant (3 prime UTR variant)	Methylmalonic acidemia	GUncertain significance
Select item 574601	NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr)	MMUT (A676T)	Single nucleotide variant (missense variant)	Methylmalonic acidemia +3 more	GConflicting classifications of pathogenicity
Select item 495778	NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter)	MMUT (R467*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 553762	NM_000255.4(MMUT):c.850G>T (p.Gly284Ter)	MMUT (G284*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GPathogenic
Select item 203855	NM_000255.4(MMUT):c.682C>T (p.Arg228Ter)	MMUT (R228*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more	GPathogenic
Select item 357266	NM_000255.4(MMUT):c.-155del	MMUT	Deletion (5 prime UTR variant)	Methylmalonic acidemia	GUncertain significance
Select item 357267	NM_000255.3(MMUT):c.-198A>T	MMUT	Single nucleotide variant	not provided +1 more	GBenign
Select item 307005	NM_052845.4(MMAB):c.*2950C>T	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307021	NM_052845.4(MMAB):c.*1859TA[10]	MMAB	Microsatellite (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307020	NM_052845.4(MMAB):c.*1859TA[9]	MMAB	Microsatellite (3 prime UTR variant +1 more)	Methylmalonic acidemia	GLikely benign
Select item 307022	NM_052845.4(MMAB):c.*1859TA[7]	MMAB	Microsatellite (3 prime UTR variant +1 more)	Methylmalonic acidemia	GLikely benign
Select item 307024	NM_052845.4(MMAB):c.1748_1752dup	MMAB	Duplication (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307032	NM_052845.4(MMAB):c.1576_1578del	MMAB	Deletion (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307031	NM_052845.4(MMAB):c.1577_1578del	MMAB	Deletion (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307030	NM_052845.4(MMAB):c.*1578del	MMAB	Deletion (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307033	NM_052845.4(MMAB):c.1554_1556del	MMAB	Deletion (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307034	NM_052845.4(MMAB):c.*1554del	MMAB	Deletion (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307042	NM_052845.4(MMAB):c.1076_1079del	MMAB	Deletion (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307058	NM_052845.4(MMAB):c.*380AG[5]	MMAB	Microsatellite (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307059	NM_052845.4(MMAB):c.*380AG[3]	MMAB	Microsatellite (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307063	NM_052845.4(MMAB):c.*336TG[25]	MMAB	Microsatellite (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307062	NM_052845.4(MMAB):c.*336TG[24]	MMAB	Microsatellite (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307061	NM_052845.4(MMAB):c.*336TG[23]	MMAB	Microsatellite (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307066	NM_052845.4(MMAB):c.*336TG[19]	MMAB	Microsatellite (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307065	NM_052845.4(MMAB):c.*336TG[20]	MMAB	Microsatellite (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307064	NM_052845.4(MMAB):c.*336TG[21]	MMAB	Microsatellite (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307070	NM_052845.4(MMAB):c.364_378delinsAGA	MMAB	Indel (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307069	NM_052845.4(MMAB):c.366_378delinsAGA	MMAB	Indel (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307068	NM_052845.4(MMAB):c.368_378delinsAGA	MMAB	Indel (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307067	NM_052845.4(MMAB):c.368_378delinsA	MMAB	Indel (3 prime UTR variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 307073	NM_052845.4(MMAB):c.*368T>A	MMAB	Single nucleotide variant (3 prime UTR variant +1 more)	Methylmalonic acidemia	GLikely benign
Select item 3095	NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)	MMAB (R186W)	Single nucleotide variant (missense variant +1 more)	MMAB-related condition +4 more	GPathogenic/Likely pathogenic
Select item 307081	NM_052845.4(MMAB):c.378G>T (p.Ser126=)	MMAB	Single nucleotide variant (synonymous variant +1 more)	Methylmalonic acidemia	GUncertain significance
Select item 96243	NM_052845.4(MMAB):c.288T>C (p.Ile96=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 262247	NM_052845.4(MMAB):c.57C>A (p.Arg19=)	MMAB, MVK	Single nucleotide variant (synonymous variant +1 more)	Mevalonic aciduria +5 more	GBenign
Select item 262246	NM_052845.4(MMAB):c.56G>A (p.Arg19His)	MMAB, MVK (R19H)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GBenign
Select item 307083	NM_052845.4(MMAB):c.-9G>T	MVK, MMAB	Single nucleotide variant (5 prime UTR variant +1 more)	Methylmalonic acidemia +1 more	GConflicting classifications of pathogenicity
Select item 307084	NM_052845.3(MMAB):c.-49G>A	MMAB, MVK	Single nucleotide variant (genic upstream transcript variant)	Methylmalonic acidemia	GUncertain significance
Select item 307085	NM_052845.3(MMAB):c.-69G>A	MMAB, MVK	Single nucleotide variant (genic upstream transcript variant)	Methylmalonic acidemia +1 more	GUncertain significance
Select item 307086	NM_000431.3(MVK):c.-178A>G	MMAB, MVK	Single nucleotide variant (genic upstream transcript variant)	Methylmalonic acidemia +4 more	GConflicting classifications of pathogenicity
Select item 129638	NM_000431.4(MVK):c.155G>A (p.Ser52Asn)	MMAB, MVK (S52N)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign

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Items: 62