| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | CDK5RAP2-related disorder +2 more | |
| | | Single nucleotide variant (intron variant) | Microcephaly 3, primary, autosomal recessive | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 3, primary, autosomal recessive | |
| | | Copy number gain | Hypotonia +2 more | |
Click to view in NCBI Gene