| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Autosomal recessive cutis laxa type 2B | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Microsatellite (frameshift variant) | Autosomal recessive cutis laxa type 2B | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cutis laxa | |
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