| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Ataxia-telangiectasia syndrome +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Koolen-de Vries syndrome | |
| | | Single nucleotide variant (nonsense) | Koolen-de Vries syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Koolen-de Vries syndrome | |
| | | Single nucleotide variant (missense variant) | Koolen-de Vries syndrome | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Koolen-de Vries syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Koolen-de Vries syndrome | |
| | | Deletion (frameshift variant) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Koolen-de Vries syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Koolen-de Vries syndrome | |
| | | Single nucleotide variant (nonsense) | Koolen-de Vries syndrome | |
Click to view in NCBI Gene