| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (splice acceptor variant) | Weill-Marchesani 4 syndrome, recessive | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Weill-Marchesani 4 syndrome, recessive | |
| | | Single nucleotide variant (nonsense) | Weill-Marchesani 4 syndrome, recessive | |
| | | Deletion (frameshift variant) | Weill-Marchesani 4 syndrome, recessive | |
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