| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 1 | |
| | | Microsatellite (intron variant) | Bardet-Biedl syndrome 1 | |
| | | 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 | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Bardet-Biedl syndrome 1 | |
| | | Indel (frameshift variant +1 more) | Bardet-Biedl syndrome 1 | |
| | | Single nucleotide variant (splice donor variant +1 more) | Bardet-Biedl syndrome 1 | |
| | | Single nucleotide variant (splice donor variant) | Bardet-Biedl syndrome 1 | |
| | | Duplication (frameshift variant) | Bardet-Biedl syndrome 1 | |
| | | Single nucleotide variant (splice donor variant) | Bardet-Biedl syndrome 1 | |
| | | Single nucleotide variant (splice donor variant) | Bardet-Biedl syndrome 1 +1 more | |
| | | Deletion (splice acceptor variant +1 more) | Bardet-Biedl syndrome 1 | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 1 | |
| | | Duplication (frameshift variant +1 more) | Bardet-Biedl syndrome 1 | |
| | | Duplication (frameshift variant) | Bardet-Biedl syndrome 1 | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Bardet-Biedl syndrome 1 | |
| | | Single nucleotide variant (splice donor variant +1 more) | Bardet-Biedl syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 1 | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 1 | |
| | | Copy number loss | Bardet-Biedl syndrome 1 | |
| | LOC126862183, SCAPER (R1098Q +4 more) | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 1 | |
| | | Copy number loss | Bardet-Biedl syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 1 | |
| | | Single nucleotide variant (splice donor variant) | Bardet-Biedl syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 1 +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 1 | |
| | | Deletion (3 prime UTR variant +1 more) | Bardet-Biedl syndrome 1 | |
| | | Duplication (frameshift variant) | Bardet-Biedl syndrome 1 | |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 1 | |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome 1 | |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Bardet-Biedl syndrome 1 | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant) | Bardet-Biedl syndrome +1 more | |
| | | Deletion (3 prime UTR variant +1 more) | Bardet-Biedl syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 3 +3 more | |
| | | Deletion (splice donor variant) | Bardet-Biedl syndrome 1 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | BBS1-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome | |
| | | Deletion (nonsense) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome +1 more | |
| | | Microsatellite (frameshift variant) | Bardet-Biedl syndrome | |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome +1 more | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (splice donor variant) | Bardet-Biedl syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +5 more | |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 1 | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Bardet-Biedl syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome 1 +2 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Retinitis pigmentosa 55 +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 1 +2 more | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Nephronophthisis +3 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | BBS1-related disorder +1 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant +1 more) | Bardet-Biedl syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa +4 more | |