Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_032601.3(MCEE):c.427C>T (p.Arg143Cys) | 84693 | MCEE | Likely pathogenic;Pathogenic | 138436961 | RCV000203412; RCV000186007; | N | MedGen:C1855100,OMIM:251120,ORPHA:308425; MedGen:CN221809 | 2 | 71337204 | 71337204 | NM_032601.3:c.427C>T | NP_115990.3:p.Arg143Cys | NC_000002.11:g.71337204G>A | - | C1855100 251120 Methylmalonyl-CoA epimerase deficiency; CN221809 not provided | | |
NM_032601.3(MCEE):c.178A>C (p.Lys60Gln) | 84693 | MCEE | Pathogenic | 147401037 | RCV000203363; RCV000186009; | N | MedGen:C1855100,OMIM:251120,ORPHA:308425; MedGen:CN221809 | 2 | 71351536 | 71351536 | NM_032601.3:c.178A>C | NP_115990.3:p.Lys60Gln | NC_000002.11:g.71351536T>G | - | C1855100 251120 Methylmalonyl-CoA epimerase deficiency; CN221809 not provided | | |
NM_032601.3(MCEE):c.139C>T (p.Arg47Ter) | 84693 | MCEE | Pathogenic | 111033538 | RCV000002434; | N | MedGen:C1855100,OMIM:251120,ORPHA:308425 | 2 | 71351575 | 71351575 | NM_032601.3:c.139C>T | NP_115990.3:p.Arg47Ter | NC_000002.11:g.71351575G>A | OMIM Allelic Variant:608419.0001 | C1855100 251120 Methylmalonyl-CoA epimerase deficiency | | |