Links from MedGen
Items: 3
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr12:52913573
- GRCh38:
- Chr12:52519789
| KRT5 | E170* | Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr12:52913971
- GRCh38:
- Chr12:52520187
| KRT5 | R37Q | Dowling-Degos disease 1, Epidermolysis bullosa simplex with migratory circinate erythema, Epidermolysis bullosa simplex with mottled pigmentation,
Epidermolysis bullosa simplex 1A, generalized severe, Epidermolysis bullosa simplex 2A, generalized severe, Epidermolysis bullosa simplex 2B, generalized intermediate,
Epidermolysis bullosa simplex 2C, localized, Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive, Epidermolysis bullosa simplex,
not provided | Benign/Likely benign
(Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:52912906
- GRCh38:
- Chr12:52519122
| KRT5, LOC126861526 | | not specified, not provided, Epidermolysis bullosa simplex,
Epidermolysis bullosa simplex 2A, generalized severe, Epidermolysis bullosa simplex 2B, generalized intermediate, Epidermolysis bullosa simplex 2C, localized,
Epidermolysis bullosa simplex 2d, generalized, intermediate or severe, autosomal recessive, Epidermolysis bullosa simplex 1A, generalized severe, Dowling-Degos disease 1,
Epidermolysis bullosa simplex with migratory circinate erythema, Epidermolysis bullosa simplex with mottled pigmentation ...see more | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |