| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Copy number gain | See cases | |
| | LOC126862582, LOC126862583 +1753 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130061160, XYLT2 (R12W) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | LOC130061160, XYLT2 (R13L) | Single nucleotide variant (missense variant +1 more) | Osteogenesis imperfecta | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC130061160, XYLT2 (A21V) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | LOC130061160, XYLT2 (G37D) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
Click to view in NCBI Gene