| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Non-syndromic intellectual disability | Gno classifications from unflagged records |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
Click to view in NCBI Gene