| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | DCPS, GSEC (P242L +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | DCPS, GSEC (R264L +1 more) | Single nucleotide variant (missense variant) | Al-Raqad syndrome | |
Click to view in NCBI Gene