| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Clinodactyly of the 5th finger +4 more | |
| | | Microsatellite (frameshift variant) | Neurodevelopmental delay +11 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene