ClinVar Miner

Variants in gene KRT5

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
32 7 16 21 17 121 178

Condition and significance breakdown #

Total conditions: 13
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
not provided 15 5 2 2 0 121 135
Epidermolysis bullosa simplex 0 1 14 20 15 0 50
not specified 0 0 0 1 13 0 14
Epidermolysis bullosa simplex, Cockayne-Touraine type 7 0 0 0 0 0 7
Epidermolysis bullosa herpetiformis, Dowling-Meara 5 0 0 0 0 0 5
Epidermolysis bullosa simplex, Koebner type 4 1 0 0 0 0 5
Dowling-Degos disease 1 2 0 0 0 0 0 2
Epidermolysis bullosa simplex, autosomal recessive 2 0 0 0 0 0 2
Epidermolysis bullosa simplex with migratory circinate erythema 1 0 0 0 0 0 1
Epidermolysis bullosa simplex with migratory circinate erythema; Epidermolysis bullosa simplex with mottled pigmentation; Epidermolysis bullosa herpetiformis, Dowling-Meara; Epidermolysis bullosa simplex, autosomal recessive; Epidermolysis bullosa simplex, Koebner type; Epidermolysis bullosa simplex, Cockayne-Touraine type; Dowling-Degos disease 1 1 0 0 0 0 0 1
Epidermolysis bullosa simplex with mottled pigmentation 1 0 0 0 0 0 1
Epidermolysis bullosa simplex, Dowling-Meara type, with severe palmoplantar keratoderma 1 0 0 0 0 0 1
Epidermolysis bullosa simplex, generalized, with severe palmoplantar keratosis 1 0 0 0 0 0 1

Submitter and significance breakdown #

Total submitters: 11
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Epithelial Biology; Institute of Medical Biology, Singapore 0 0 0 0 0 121 121
Illumina Clinical Services Laboratory,Illumina 0 0 14 20 15 0 49
GeneDx 15 5 2 0 2 0 24
OMIM 21 0 0 0 0 0 21
PreventionGenetics,PreventionGenetics 0 0 0 1 12 0 13
GeneReviews 3 0 0 0 0 0 3
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 2 0 0 2
Genetic Services Laboratory, University of Chicago 1 0 0 0 0 0 1
Fulgent Genetics,Fulgent Genetics 1 0 0 0 0 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 1 0 0 0 0 1

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