| | | Single nucleotide variant (5 prime UTR variant) | Bardet-Biedl syndrome 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Bardet-Biedl syndrome 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | BBS1-related disorder +4 more | |
| | | Single nucleotide variant (missense variant) | BBS1-related disorder +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Bardet-Biedl syndrome 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Bardet-Biedl syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 1 +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | BBS1-related disorder +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | BBS1-related disorder +2 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome +2 more | |