| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene