| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | |
Click to view in NCBI Gene