Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | | Uncombable hair syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Uncombable hair syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Uncombable hair syndrome 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Uncombable hair syndrome 1 +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene