| | LOC129932244, LOC129932245 +1147 more | Copy number gain | See cases | |
| | LOC126806027, LOC126806028 +723 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC126806029, LOC129932471 +720 more | Copy number loss | Orofacial cleft 2 | |
| | | Single nucleotide variant | Junctional epidermolysis bullosa | |
| | | Single nucleotide variant | Junctional epidermolysis bullosa | |
| | | Single nucleotide variant (3 prime UTR variant) | Junctional epidermolysis bullosa | |
| | | Single nucleotide variant (3 prime UTR variant) | Junctional epidermolysis bullosa | |
| | | Single nucleotide variant (3 prime UTR variant) | Junctional epidermolysis bullosa | |
| | | Single nucleotide variant (3 prime UTR variant) | Junctional epidermolysis bullosa | |
| | | Single nucleotide variant (3 prime UTR variant) | Junctional epidermolysis bullosa | |
| | | Single nucleotide variant (3 prime UTR variant) | Junctional epidermolysis bullosa | |
| | | Single nucleotide variant (3 prime UTR variant) | Junctional epidermolysis bullosa | |
| | | Single nucleotide variant (3 prime UTR variant) | Junctional epidermolysis bullosa | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Junctional epidermolysis bullosa | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Deletion (frameshift variant +1 more) | Junctional epidermolysis bullosa gravis of Herlitz | |
| | | 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) | Amelogenesis imperfecta type 1A | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Amelogenesis imperfecta | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Indel (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Amelogenesis imperfecta type 1A +5 more | |
| | | Single nucleotide variant (nonsense) | Amelogenesis imperfecta type 1A | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Junctional epidermolysis bullosa | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Duplication (frameshift variant) | Amelogenesis imperfecta type 1A | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Amelogenesis imperfecta type 1A | |
| | | 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 | |
| | | Single nucleotide variant (splice donor variant) | Amelogenesis imperfecta type 1A | |
| | | Single nucleotide variant (missense variant) | Junctional epidermolysis bullosa +1 more | GConflicting classifications of pathogenicity |
| | | 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 (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Amelogenesis imperfecta type 1A | |
| | | 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) | Junctional epidermolysis bullosa gravis of Herlitz +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Junctional epidermolysis bullosa | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | Amelogenesis imperfecta type 1A | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Indel (inframe_indel) | 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 (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Deletion (frameshift variant) | Junctional epidermolysis bullosa gravis of Herlitz | |
| | | Single nucleotide variant (nonsense) | Junctional epidermolysis bullosa, non-Herlitz type | |
| | | Microsatellite (frameshift 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 (splice acceptor 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 | |