| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | GXYLT2, LOC129937058 (R70L) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | GXYLT2, LOC129937058 (R71W) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | GXYLT2, LOC129937058 (A91V) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
Click to view in NCBI Gene