| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability-hypotonic facies syndrome, X-linked, 1 | |
Click to view in NCBI Gene