| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Deletion | Combined malonic and methylmalonic acidemia | |
| | | Deletion | Combined malonic and methylmalonic acidemia | |
| | | Deletion | Combined malonic and methylmalonic acidemia | |
| | | Deletion | Combined malonic and methylmalonic acidemia | |
| | | Deletion | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (missense variant +2 more) | Combined malonic and methylmalonic acidemia | |
| | | Deletion (frameshift variant +1 more) | Combined malonic and methylmalonic acidemia | |
| | | Deletion (frameshift variant +1 more) | Combined malonic and methylmalonic acidemia | |
| | | Duplication (frameshift variant +1 more) | Combined malonic and methylmalonic acidemia | |
| | | Microsatellite (frameshift variant +1 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (nonsense +2 more) | Combined malonic and methylmalonic acidemia | |
| | | Deletion (nonsense +1 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Combined malonic and methylmalonic acidemia | |
| | | Deletion (frameshift variant +2 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (nonsense +1 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (nonsense +1 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant +2 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (missense variant +2 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | ACSF3, LOC125177393 (V74A +1 more) | Single nucleotide variant (missense variant +1 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (missense variant +2 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Deletion (frameshift variant +1 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Deletion (frameshift variant +1 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Duplication (frameshift variant +1 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Deletion (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (splice acceptor variant) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined malonic and methylmalonic acidemia | |
| | | Deletion (frameshift variant +1 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined malonic and methylmalonic acidemia | |
| | | Deletion (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (splice acceptor variant) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (nonsense +1 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (intron variant) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined malonic and methylmalonic acidemia | |
| | | Duplication (nonsense +2 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (synonymous variant +2 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined malonic and methylmalonic acidemia | |
| | | Single nucleotide variant (synonymous variant +1 more) | Combined malonic and methylmalonic acidemia | |
| | | Deletion (frameshift variant +1 more) | Combined malonic and methylmalonic acidemia | |