| | LOC126806252, LOC126806253 +2457 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Bardet-Biedl syndrome 15 | |
| | | Deletion (non-coding transcript variant +1 more) | Bardet-Biedl syndrome | |
| | | Deletion (3 prime UTR variant +1 more) | Bardet-Biedl syndrome | |
| | | Microsatellite (3 prime UTR variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Bardet-Biedl syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Bardet-Biedl syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Bardet-Biedl syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Bardet-Biedl syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Bardet-Biedl syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Bardet-Biedl syndrome 15 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Bardet-Biedl syndrome 15 | |
| | | Microsatellite (3 prime UTR variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Bardet-Biedl syndrome 15 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 15 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (splice donor variant) | Bardet-Biedl syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | WDPCP-related disorder +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome 15 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | WDPCP-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | WDPCP-related disorder +1 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 15 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 15 | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Heart defect - tongue hamartoma - polysyndactyly syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | WDPCP-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (splice donor variant) | Bardet-Biedl syndrome 15 | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 15 +4 more | |
| | | Deletion (frameshift variant +1 more) | Heart defect - tongue hamartoma - polysyndactyly syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Deletion (inframe deletion +1 more) | WDPCP-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 15 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Heart defect - tongue hamartoma - polysyndactyly syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome 15 | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Heart defect - tongue hamartoma - polysyndactyly syndrome +2 more | |
| | | Microsatellite (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 15 +5 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Deletion (splice donor variant) | Bardet-Biedl syndrome | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |