| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | XYLT1, LOC102723692 (R586C) | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 2 +2 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 2 +3 more | |
| | | Single nucleotide variant (missense variant) | Desbuquois dysplasia 1 +2 more | |
Click to view in NCBI Gene