| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | ALG9 congenital disorder of glycosylation +2 more | |
| | | Single nucleotide variant (splice donor variant) | Cutis laxa with osteodystrophy +1 more | |
| | | Deletion (frameshift variant) | Cutis laxa with osteodystrophy | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Cutis laxa with osteodystrophy | |
| | | Single nucleotide variant (nonsense) | Cutis laxa with osteodystrophy | |
| | ATP6V0A2, LOC126861666 (Q645fs) | Deletion (frameshift variant) | Cutis laxa with osteodystrophy | |
| | | Deletion (splice acceptor variant) | Cutis laxa with osteodystrophy | |
| | | Single nucleotide variant (nonsense) | Cutis laxa with osteodystrophy | |
| | | Single nucleotide variant (missense variant) | Cutis laxa with osteodystrophy | |
| | | Single nucleotide variant (3 prime UTR variant) | Cutis laxa with osteodystrophy | |
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