| | LOC130004500, LOC130004501 +821 more | Copy number gain | See cases | |
| | EDRF1-AS1, EDRF1-DT +1036 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Deletion | Desmoplastic/nodular medulloblastoma | |
| | LOC124416905, LOC124416906 +318 more | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Junctional epidermolysis bullosa | |
| | | Single nucleotide variant (3 prime UTR variant) | Junctional epidermolysis bullosa, non-Herlitz type | |
| | | Deletion (3 prime UTR variant) | Junctional epidermolysis bullosa | |
| | | Single nucleotide variant (3 prime UTR variant) | Junctional epidermolysis bullosa, non-Herlitz type | |
| | | Single nucleotide variant (3 prime UTR variant) | Junctional epidermolysis bullosa, non-Herlitz type +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Junctional epidermolysis bullosa, non-Herlitz type | |
| | | Single nucleotide variant (3 prime UTR variant) | Junctional epidermolysis bullosa, non-Herlitz type | |
| | | Single nucleotide variant (3 prime UTR variant) | Junctional epidermolysis bullosa, non-Herlitz type | |
| | | Single nucleotide variant (3 prime UTR variant) | Junctional epidermolysis bullosa, non-Herlitz type | |
| | | Single nucleotide variant (3 prime UTR variant) | Junctional epidermolysis bullosa, non-Herlitz type | |
| | | Deletion (3 prime UTR variant) | Junctional epidermolysis bullosa | |
| | | Single nucleotide variant (3 prime UTR variant) | Junctional epidermolysis bullosa, non-Herlitz type | |
| | | Single nucleotide variant (3 prime UTR variant) | Junctional epidermolysis bullosa, non-Herlitz type | |
| | | Single nucleotide variant (3 prime UTR variant) | Junctional epidermolysis bullosa, non-Herlitz type +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Junctional epidermolysis bullosa, non-Herlitz type +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Junctional epidermolysis bullosa, non-Herlitz type | |
| | | Single nucleotide variant (3 prime UTR variant) | Junctional epidermolysis bullosa, non-Herlitz type +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | COL17A1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous 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 (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) | Junctional epidermolysis bullosa, non-Herlitz type +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (splice donor variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense 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 (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 (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 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Junctional epidermolysis bullosa, non-Herlitz type +2 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) | 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 (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | COL17A1-related disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |