| | | Single nucleotide variant (synonymous variant) | ALDH18A1-related condition +5 more | |
| | | Single nucleotide variant (missense variant) | de Barsy syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | de Barsy syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | ALDH18A1-related de Barsy syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | ALDH18A1-related de Barsy syndrome +7 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant spastic paraplegia type 9 +6 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | ALDH18A1-related condition +4 more | |
| | | Single nucleotide variant (synonymous variant) | ALDH18A1-related condition | |
| | | Single nucleotide variant (synonymous variant) | ALDH18A1-related condition | |
| | | Single nucleotide variant (missense variant) | ALDH18A1-related condition | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | ALDH18A1-related condition | |
| | | Single nucleotide variant (synonymous variant) | ALDH18A1-related de Barsy syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | ALDH18A1-related de Barsy syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant spastic paraplegia type 9 +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +6 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant spastic paraplegia type 9 +6 more | |
| | | Single nucleotide variant (splice acceptor variant) | ALDH18A1-related condition | |
| | | Single nucleotide variant (intron variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant spastic paraplegia type 9 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | ALDH18A1-related condition | |
| | | Single nucleotide variant (synonymous variant +1 more) | ALDH18A1-related de Barsy syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | ALDH18A1-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | ALDH18A1-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | ALDH18A1-related condition | |
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa, autosomal dominant 3 +4 more | |
| | | Single nucleotide variant (intron variant) | Cutis laxa, autosomal dominant 3 +5 more | |
| | | Single nucleotide variant (5 prime UTR variant) | ALDH18A1-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | ALDH18A1-related condition +2 more | GConflicting classifications of pathogenicity |