| | | Copy number gain | See cases | |
| | LOC130007898, LOC130007899 +206 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Epidermolytic ichthyosis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Epidermolytic ichthyosis +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Epidermolytic ichthyosis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Hereditary angioedema with normal C1Inh | |
| | | Single nucleotide variant (3 prime UTR variant) | Epidermolytic ichthyosis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Epidermolytic ichthyosis +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Diffuse nonepidermolytic palmoplantar keratoderma +1 more | |
| | | Single nucleotide variant (missense variant) | Epidermolytic hyperkeratosis 1 | |
| | | Single nucleotide variant (missense variant) | Epidermolytic ichthyosis +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Epidermolytic ichthyosis +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | Congenital reticular ichthyosiform erythroderma | |
| | | Deletion (frameshift variant) | not provided | |
| | | Duplication (frameshift variant) | Ichthyosis hystrix of Curth-Macklin | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | KRT1-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | KRT1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | KRT1-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Indel (inframe_indel) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Diffuse nonepidermolytic palmoplantar keratoderma +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Epidermolytic ichthyosis +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | Keratosis palmoplantaris striata 3 | |
| | | Indel (frameshift variant) | Ichthyosis hystrix of Curth-Macklin | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (frameshift variant) | Ichthyosis hystrix of Curth-Macklin | |
| | | Single nucleotide variant (missense variant) | Diffuse nonepidermolytic palmoplantar keratoderma +1 more | |
| | | Deletion (frameshift variant) | Ichthyosis hystrix of Curth-Macklin | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Diffuse nonepidermolytic palmoplantar keratoderma +1 more | |
| | | Single nucleotide variant (intron variant) | Epidermolytic ichthyosis +1 more | |
| | | Single nucleotide variant (splice donor variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Epidermolytic ichthyosis +2 more | |
| | | Single nucleotide variant (synonymous variant) | Epidermolytic ichthyosis +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Epidermolytic ichthyosis +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Diffuse nonepidermolytic palmoplantar keratoderma +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Epidermolytic ichthyosis | |
| | | Single nucleotide variant (synonymous variant) | KRT1-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Ichthyosis, annular epidermolytic, 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Epidermolytic hyperkeratosis 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | KRT1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (no sequence alteration) | not provided | |
| | | Deletion (inframe_deletion) | Diffuse nonepidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Diffuse nonepidermolytic palmoplantar keratoderma +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Epidermolytic ichthyosis +2 more | |
| | | Single nucleotide variant (missense variant) | Diffuse nonepidermolytic palmoplantar keratoderma +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (inframe_insertion) | not provided | |
| | | Single nucleotide variant (missense variant) | Diffuse nonepidermolytic palmoplantar keratoderma | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |