| - 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 |
| - GRCh37:
- Chr12:52913554
- GRCh38:
- Chr12:52519770
| KRT5 | N176S | not provided, Epidermolysis bullosa simplex with mottled pigmentation | Pathogenic/Likely pathogenic
(Feb 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:52910431
- GRCh38:
- Chr12:52516647
| KRT5, LOC126861525 | E477K | Epidermolysis bullosa simplex, Epidermolysis bullosa simplex 1C, localized, Epidermolysis bullosa simplex with mottled pigmentation
| Pathogenic
(May 28, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:52908850
- GRCh38:
- Chr12:52515066
| KRT5 | G550fs | not provided, Epidermolysis bullosa simplex | Pathogenic
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:52914007
- GRCh38:
- Chr12:52520223
| KRT5 | P25L | KRT5-related condition, not provided, Epidermolysis bullosa simplex
| Pathogenic
(Dec 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:52911486
- GRCh38:
- Chr12:52517702
| KRT5 | M327T | Dowling-Degos disease 1, Epidermolysis bullosa simplex 1C, localized, Epidermolysis bullosa simplex, Koebner type,
Epidermolysis bullosa simplex with migratory circinate erythema, Epidermolysis bullosa simplex with mottled pigmentation, Epidermolysis bullosa simplex 1A, generalized severe,
Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive, not provided, Epidermolysis bullosa simplex, Koebner type
| Pathogenic
(Nov 28, 2022) | criteria provided, multiple submitters, no conflicts |