| | ALDH6A1, BBOF1 (R334* +2 more) | Single nucleotide variant (nonsense +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (missense variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | ALDH6A1, BBOF1 (R445Q +2 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | ALDH6A1, BBOF1 (Q436R +2 more) | Single nucleotide variant (missense variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | ALDH6A1, BBOF1 (H122R +2 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | BBOF1, ALDH6A1 (P421S +2 more) | Single nucleotide variant (missense variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (5 prime UTR variant) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | ALDH6A1, BBOF1 (A132S +2 more) | Single nucleotide variant (missense variant) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonate semialdehyde dehydrogenase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | ALDH6A1, BBOF1 (G216R +2 more) | Single nucleotide variant (missense variant) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | ALDH6A1, BBOF1 (D250Y +2 more) | Single nucleotide variant (missense variant) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (splice acceptor variant) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | ALDH6A1, BBOF1 (M280fs +2 more) | Duplication (frameshift variant) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | ALDH6A1, BBOF1 (R386* +2 more) | Single nucleotide variant (nonsense) | Methylmalonate semialdehyde dehydrogenase deficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Microsatellite (intron variant) | not provided +1 more | |
| | | Microsatellite (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (synonymous variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | ALDH6A1, BBOF1 (E267K +2 more) | Single nucleotide variant (missense variant) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Duplication (intron variant) | Methylmalonate semialdehyde dehydrogenase deficiency +1 more | |
| | ALDH6A1, BBOF1 (N303S +2 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | ALDH6A1, BBOF1 (V466A +2 more) | Single nucleotide variant (missense variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | ALDH6A1, BBOF1 (G467E +2 more) | Single nucleotide variant (missense variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | ALDH6A1, BBOF1 (E519del +2 more) | Microsatellite (inframe_deletion +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency +1 more | |
| | ALDH6A1, BBOF1 (R535H +2 more) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency | |