| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Seckel syndrome 4 +2 more | |
| | | Deletion (frameshift variant +1 more) | Seckel syndrome 4 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +3 more | |
Click to view in NCBI Gene