| | | Single nucleotide variant (missense variant) | CEBALID syndrome +5 more | |
| | | Microsatellite (inframe_deletion) | Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures +8 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 +1 more | |
| | | Single nucleotide variant (missense variant) | HDAC4-related disorder +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Motor tics +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Pancreatitis +26 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) | Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures +3 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) | Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures +3 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) | Hypertrichosis +10 more | |
| | | Single nucleotide variant (intron variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Intellectual disability, severe | |
| | | Single nucleotide variant (nonsense) | not provided +14 more | |
| | | Single nucleotide variant (nonsense) | not provided +10 more | |
| | | Single nucleotide variant (nonsense) | not provided +8 more | |