C1855100[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 336933	NM_032601.4(MCEE):c.*262G>A	MCEE	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 896730	NM_032601.4(MCEE):c.*64A>C	MCEE	Single nucleotide variant (3 prime UTR variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GUncertain significance
Select item 336935	NM_032601.4(MCEE):c.520G>C (p.Glu174Gln)	MCEE (E174Q)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency +1 more	GUncertain significance
Select item 896731	NM_032601.4(MCEE):c.440A>G (p.Glu147Gly)	MCEE (E147G)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GUncertain significance
Select item 336936	NM_032601.4(MCEE):c.428G>A (p.Arg143His)	MCEE (R143H)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 203810	NM_032601.4(MCEE):c.427C>T (p.Arg143Cys)	MCEE (R143C)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 336937	NM_032601.4(MCEE):c.368T>A (p.Ile123Asn)	MCEE (I123N)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GUncertain significance
Select item 897201	NM_032601.4(MCEE):c.352G>C (p.Gly118Arg)	MCEE (G118R)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GUncertain significance
Select item 336938	NM_032601.4(MCEE):c.312T>G (p.Arg104=)	MCEE	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 138183	NM_032601.4(MCEE):c.311G>T (p.Arg104Leu)	MCEE (R104L)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 336939	NM_032601.4(MCEE):c.271C>A (p.Leu91Met)	MCEE (L91M)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GUncertain significance
Select item 643880	NM_032601.4(MCEE):c.235C>G (p.Leu79Val)	MCEE (L79V)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency +1 more	GUncertain significance
Select item 138182	NM_032601.4(MCEE):c.227C>T (p.Ala76Val)	MCEE (A76V)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 897202	NM_032601.4(MCEE):c.164T>C (p.Val55Ala)	MCEE (V55A)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GConflicting classifications of pathogenicity
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 336940	NM_032601.4(MCEE):c.136G>A (p.Gly46Ser)	MCEE (G46S)	Single nucleotide variant (missense variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GUncertain significance
Select item 729893	NM_032601.4(MCEE):c.120T>C (p.Gly40=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GBenign/Likely benign
Select item 195391	NM_032601.4(MCEE):c.102C>G (p.Pro34=)	MCEE	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 898375	NM_032601.4(MCEE):c.66C>T (p.Pro22=)	MCEE	Single nucleotide variant (synonymous variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GConflicting classifications of pathogenicity
Select item 898376	NM_032601.4(MCEE):c.41-13T>A	MCEE	Single nucleotide variant (intron variant)	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	GBenign/Likely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 20