| | LOC129937446, LOC129937447 +1343 more | Copy number gain | See cases | |
| | LOC129937268, LOC129937269 +2645 more | Copy number gain | See cases | |
| | LOC126806816, LOC126806817 +484 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant) | ATP2C1-related disorder | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Familial benign pemphigus | |
| | | Single nucleotide variant (intron variant) | Familial benign pemphigus | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Familial benign pemphigus | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Familial benign pemphigus | |
| | | Microsatellite (5 prime UTR variant +1 more) | Familial benign pemphigus | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Familial benign pemphigus | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Familial benign pemphigus | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Familial benign pemphigus | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | ATP2C1-related disorder | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Familial benign pemphigus +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Familial benign pemphigus | |
| | | Deletion (splice donor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | ATP2C1-related disorder | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial benign pemphigus | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Familial benign pemphigus | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Familial benign pemphigus | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Familial benign pemphigus | |
| | | Single nucleotide variant (missense variant) | Familial benign pemphigus | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Familial benign pemphigus +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | ATP2C1-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Familial benign pemphigus | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (frameshift variant) | Familial benign pemphigus | |
| | | Single nucleotide variant (missense variant) | Familial benign pemphigus | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Familial benign pemphigus | |
| | | Single nucleotide variant (intron variant) | Familial benign pemphigus | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Familial benign pemphigus | |
| | | Single nucleotide variant (splice acceptor variant) | Familial benign pemphigus | |
| | | Single nucleotide variant (missense variant) | Familial benign pemphigus | |
| | | Single nucleotide variant (synonymous variant) | Familial benign pemphigus | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (intron variant) | not provided | |
| | | 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 (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Familial benign pemphigus | |