| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 1 | |
| | | Microsatellite (intron variant) | Bardet-Biedl syndrome 1 | |
| | | Deletion | Bardet-Biedl syndrome | |
| | | Deletion | Bardet-Biedl syndrome | |
| | | Deletion | Bardet-Biedl syndrome | |
| | | Deletion | Bardet-Biedl syndrome | |
| | | Duplication (3 prime UTR variant +1 more) | Bardet-Biedl syndrome 1 | |
| | | Microsatellite (frameshift variant) | Bardet-Biedl syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 1 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | BBS1-related disorder | |
| | | Single nucleotide variant (intron variant) | BBS1-related disorder | |
| | | Single nucleotide variant (intron variant) | BBS1-related disorder | |
| | | Single nucleotide variant (intron variant) | BBS1-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (3 prime UTR 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 | |
| | | Microsatellite (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous 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 (synonymous 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 (3 prime UTR variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous 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 (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Microsatellite (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome | |
| | | Duplication (3 prime UTR variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Duplication (frameshift variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous 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 | |
| | | Duplication (frameshift variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Bardet-Biedl syndrome | |
| | | Duplication (3 prime UTR variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous 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 | |
| | | Duplication (frameshift variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Deletion (3 prime UTR variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Duplication (3 prime UTR variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Bardet-Biedl syndrome | |
| | | Deletion (3 prime UTR variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |