| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Global developmental delay +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | MORC2-related neurodevelopmental disorders +6 more | |
Click to view in NCBI Gene