Links from MedGen
Items: 7
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | not provided +9 more | |
| | | Single nucleotide variant (synonymous variant) | Dowling-Degos disease 1 +10 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | KRT5, LOC126861525 (E477K) | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex 1C, localized +3 more | |
| | | Deletion (frameshift variant) | KRT5-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | KRT5-related disorder +8 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene