| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Cutis laxa, X-linked +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | |
| | | Single nucleotide variant (no sequence alteration +1 more) | not specified +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | X-linked distal spinal muscular atrophy type 3 +3 more | GConflicting classifications of pathogenicity |
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