| | | Single nucleotide variant (missense variant) | Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more | |
| | | Single nucleotide variant (nonsense) | Methylmalonic acidemia +3 more | |
| | | Single nucleotide variant (missense variant) | Methylmalonic acidemia +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Deletion (frameshift variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | |
| | | Deletion (frameshift variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Methylmalonic acidemia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Methylmalonic acidemia +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | |
| | | Single nucleotide variant (splice acceptor variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Methylmalonic acidemia +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice donor variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | |
| | | Deletion (frameshift variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Microsatellite (inframe_deletion) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more | |
| | | Duplication (frameshift variant) | Methylmalonic acidemia +2 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Methylmalonic acidemia +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more | |
| | | Insertion (frameshift variant) | Methylmalonic acidemia +2 more | |
| | | Single nucleotide variant (nonsense) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | |
| | | Single nucleotide variant (nonsense) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more | |
| | | Duplication (frameshift variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more | |
| | | Duplication (inframe_insertion) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | |
| | | Single nucleotide variant (nonsense) | Methylmalonic acidemia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Methylmalonic acidemia +2 more | |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (nonsense) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | |
| | | Single nucleotide variant (nonsense) | Methylmalonic acidemia +3 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | |
| | | Duplication (frameshift variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency | |