| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | ALDH6A1, BBOF1 (G473S +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ALDH6A1, BBOF1 (M481I +2 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ALDH6A1, BBOF1 (G467E +2 more) | Single nucleotide variant (missense variant +1 more) | Methylmalonate semialdehyde dehydrogenase deficiency +1 more | |
| | ALDH6A1, BBOF1 (R386* +2 more) | Single nucleotide variant (nonsense) | not provided +2 more | GConflicting classifications of pathogenicity |
| | ALDH6A1, BBOF1 (L229del +2 more) | Microsatellite (inframe_deletion) | Inborn genetic diseases | |
| | ALDH6A1, BBOF1 (K187R +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ALDH6A1, BBOF1 (E325A +2 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | ALDH6A1, BBOF1 (H122R +2 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | ALDH6A1, BBOF1 (N263S +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ALDH6A1, BBOF1 (D214E +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ALDH6A1, BBOF1 (S198P +2 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | ALDH6A1, BBOF1 (R127Q +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | ALDH6A1, BBOF1 (E105D +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | ALDH6A1-related condition +3 more | |