| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +2 more | |
| | | Microsatellite (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (nonsense) | Cohen syndrome | |
| | | Duplication (splice donor variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cohen syndrome | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Cohen syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cohen syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Cohen syndrome | |
| | | Single nucleotide variant (nonsense) | Cohen syndrome | |
| | | Single nucleotide variant (splice donor variant) | Cohen syndrome | |
| | | Deletion (frameshift variant) | Cohen syndrome | GPathogenic/Likely pathogenic |
| | | Deletion | Cohen syndrome | |
| | | Deletion | Cohen syndrome | |
Click to view in NCBI Gene