| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Microcephaly 5, primary, autosomal recessive | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_deletion +1 more) | not provided +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 5, primary, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 5, primary, autosomal recessive +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly 5, primary, autosomal recessive | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly 5, primary, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Microcephaly 5, primary, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Microcephaly 5, primary, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Microcephaly 5, primary, autosomal recessive +1 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly 5, primary, autosomal recessive +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Microcephaly 5, primary, autosomal recessive | |