| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 1, primary, autosomal recessive +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 1, primary, autosomal recessive +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 1, primary, autosomal recessive +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 1, primary, autosomal recessive +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 1, primary, autosomal recessive +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 1, primary, autosomal recessive +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Indel (non-coding transcript variant +1 more) | not provided +1 more | |
| | MCPH1, MCPH1-AS1 (G660R +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | not provided +1 more | |
| | MCPH1, MCPH1-AS1 (P799S +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Microcephaly 1, primary, autosomal recessive +1 more | GConflicting classifications of pathogenicity |
| | MCPH1, MCPH1-AS1 (P828S +2 more) | Single nucleotide variant (missense variant) | not provided +2 more | |