| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant +1 more) | Seckel syndrome 7 | |
| | | Single nucleotide variant (missense variant) | Seckel syndrome 7 +2 more | |
| | | Single nucleotide variant (missense variant) | Seckel syndrome 7 +1 more | |
Click to view in NCBI Gene