| | | Single nucleotide variant (nonsense) | Microcephaly 5, primary, autosomal recessive +2 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Microcephaly 5, primary, autosomal recessive | |
| | | Deletion (frameshift variant +1 more) | Microcephaly 5, primary, autosomal recessive | |
| | | Microsatellite (frameshift variant +1 more) | Microcephaly 5, primary, autosomal recessive | |
| | | Deletion (frameshift variant +1 more) | ASPM-related disorder +4 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | |
| | | Duplication (frameshift variant +1 more) | Microcephaly 5, primary, autosomal recessive | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | ASPM-related disorder +3 more | |
| | | Single nucleotide variant (splice donor variant) | Microcephaly 5, primary, autosomal recessive | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Microsatellite (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Microcephaly 5, primary, autosomal recessive | |
| | | Deletion (frameshift variant) | Microcephaly 5, primary, autosomal recessive | |
| | | Deletion (frameshift variant) | Microcephaly 5, primary, autosomal recessive | |
| | ASPM, LOC129932155 (A84fs) | Indel (frameshift variant) | Microcephaly 5, primary, autosomal recessive | |