| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | ALDH18A1-related de Barsy syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa, autosomal dominant 3 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | Hereditary spastic paraplegia 9A +3 more | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary spastic paraplegia 9A | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 3 | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 3 | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Insertion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
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