Links from MedGen
Items: 9
| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | KRT5, LOC126861525 (E478D) | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex with migratory circinate erythema +6 more | |
| | KRT5, LOC126861526 (K199N) | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex +9 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +10 more | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Dowling-Degos disease 1 | |
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa simplex, Koebner type +7 more | |
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