| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Menkes kinky-hair syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Menkes kinky-hair syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome +5 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene