| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 1, primary, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly 1, primary, autosomal recessive | |
| | | Duplication (frameshift variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | MCPH1-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Microcephaly 1, primary, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Deletion (frameshift variant +1 more) | Microcephaly 1, primary, autosomal recessive | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not specified +3 more | |
| | MCPH1, MCPH1-AS1 (R648* +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
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