| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Weill-Marchesani syndrome +2 more | |
| | | Single nucleotide variant (no sequence alteration) | Weill-Marchesani syndrome 1 +2 more | |
Click to view in NCBI Gene