| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | SETD2 associated neurodevelopmental disorder with multiple congenital anomalies +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Luscan-Lumish syndrome +1 more | |
Click to view in NCBI Gene