| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | KDELR2, LOC129997936 (W24S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | KDELR2, LOC129997936 (K22M) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
Click to view in NCBI Gene