| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | ALDH18A1-related de Barsy syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | ALDH18A1-related de Barsy syndrome | |
| | | Indel (splice acceptor variant +1 more) | ALDH18A1-related de Barsy syndrome | |
| | | Single nucleotide variant (splice donor variant) | ALDH18A1-related de Barsy syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia, Stanescu type +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | ALDH18A1-related de Barsy syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | ALDH18A1-related de Barsy syndrome | |
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