| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Hypotonia +6 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly +4 more | |
| | | Single nucleotide variant (missense variant) | Intellectual disability +2 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly +4 more | |
Click to view in NCBI Gene