| | | Copy number gain | See cases | |
| | LOC130007898, LOC130007899 +206 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (3 prime UTR variant) | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (3 prime UTR variant) | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (3 prime UTR variant) | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (3 prime UTR variant) | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (3 prime UTR variant) | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (3 prime UTR variant) | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (3 prime UTR variant) | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (3 prime UTR variant) | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (3 prime UTR variant) | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (3 prime UTR variant) | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (3 prime UTR variant) | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (3 prime UTR variant) | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (3 prime UTR variant) | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (3 prime UTR variant) | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (3 prime UTR variant) | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (3 prime UTR variant) | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (3 prime UTR variant) | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (3 prime UTR variant) | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (3 prime UTR variant) | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (missense variant) | Ichthyosis bullosa of Siemens | |
| | | 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) | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (synonymous variant) | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (missense variant) | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (synonymous variant) | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ichthyosis bullosa of Siemens +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Ichthyosis bullosa of Siemens +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (missense variant) | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | KRT2-related disorder | |
| | | Single nucleotide variant (synonymous variant) | KRT2-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | KRT2-related disorder | |
| | | Single nucleotide variant (missense variant) | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (synonymous variant) | KRT2-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | KRT2-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Ichthyosis bullosa of Siemens | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | KRT2-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |