| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 3 | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant spastic paraplegia type 9 +2 more | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 3 | |
| | | Single nucleotide variant (intron variant) | Cutis laxa, autosomal dominant 3 +2 more | |
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