| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +5 more | |
| | | Microsatellite (inframe_deletion) | Inborn genetic diseases +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +3 more) | Intellectual disability, autosomal recessive 12 | |
| | | Deletion (frameshift variant) | Intellectual disability, severe +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Intellectual disability, severe | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, severe +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Intellectual disability, severe +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Nephronophthisis 11 +27 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Global developmental delay +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Baralle-Macken syndrome | |
| | | Single nucleotide variant (splice donor variant) | Baralle-Macken syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Microcephaly +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly +2 more | |
| | | Duplication (frameshift variant +2 more) | Microcephaly +2 more | |
| | | Single nucleotide variant (missense variant +3 more) | Microcephaly +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Cerebral calcification +3 more | |
| | | Microsatellite (frameshift variant) | Intellectual disability, severe +3 more | |
| | | Single nucleotide variant (nonsense) | Cerebral calcification +3 more | |
| | | Single nucleotide variant (nonsense) | Cerebral calcification +3 more | |
| | | Deletion (frameshift variant) | Cerebral calcification +3 more | |
| | | Deletion (frameshift variant) | Intellectual disability, severe +10 more | |
| | | Single nucleotide variant (intron variant) | Motor delay +4 more | |
| | | Deletion (frameshift variant) | Intellectual disability, severe | |
| | | Single nucleotide variant (nonsense) | dystrophia +14 more | |
| | | Single nucleotide variant (nonsense) | Progressive myoclonic epilepsy +10 more | |
| | | Single nucleotide variant (nonsense) | Microcephaly +9 more | |