| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +2 more) | Cohen syndrome +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Cohen syndrome | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Cohen syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +3 more | |
Click to view in NCBI Gene