| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC102723692, XYLT1 (D636N) | Single nucleotide variant (missense variant) | not provided | |
| | LOC102723692, XYLT1 (M545V) | Single nucleotide variant (non-coding transcript variant +1 more) | Desbuquois dysplasia 1 +2 more | |
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