| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | |
| | | Single nucleotide variant (missense variant) | Primary microcephaly type 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations +1 more | |
| | | Single nucleotide variant (nonsense) | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | |
| | | Deletion (frameshift variant) | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | |
| | | Deletion (frameshift variant) | Microcephaly 2, primary, autosomal recessive, with or without cortical malformations | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
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