| | LOC115995524, LOC115995525 +2647 more | Copy number gain | See cases | |
| | LOC129937630, LOC129937631 +320 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LNCSRLR, LOC123192011 +16 more | Copy number loss | See cases | |
| | LNCSRLR, LOC123192011 +7 more | Copy number gain | See cases | |
| | LNCSRLR, LOC129389144 +1 more | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Bruck syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Bruck syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Bruck syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Bruck syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Bruck syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Bruck syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Bruck syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Bruck syndrome 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Bruck syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Bruck syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Bruck syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Bruck syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Bruck syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Bruck syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Bruck syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Bruck syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Bruck syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Bruck syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Bruck syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Bruck syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Bruck syndrome 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Bruck syndrome 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Bruck syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Bruck syndrome 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Bruck syndrome 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Bruck syndrome 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta +2 more | |
| | | Single nucleotide variant (missense variant) | Bruck syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | 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 (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided +10 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | 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) | Bruck syndrome 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Bruck syndrome 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bruck syndrome 2 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Bruck syndrome 2 | |
| | | Single nucleotide variant (nonsense) | Bruck syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Bruck syndrome 2 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Bruck syndrome 2 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Bruck syndrome 2 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Bruck syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |