| | | Single nucleotide variant (3 prime UTR variant +1 more) | Bardet-Biedl syndrome 1 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (3 prime UTR variant +1 more) | Bardet-Biedl syndrome 1 | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Bardet-Biedl syndrome 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 1 +1 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Bardet-Biedl syndrome 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Bardet-Biedl syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 1 | |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant +1 more) | Bardet-Biedl syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Bardet-Biedl syndrome 1 +1 more | GPathogenic/Likely pathogenic |
| | | Insertion (frameshift variant +1 more) | Bardet-Biedl syndrome 1 | |
| | | Deletion (nonsense +1 more) | Bardet-Biedl syndrome 1 | |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome +2 more | |
| | | Duplication (frameshift variant +1 more) | Bardet-Biedl syndrome 1 | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Bardet-Biedl syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 1 | |
| | | Deletion (frameshift variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +1 more) | Bardet-Biedl syndrome 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Retinitis pigmentosa +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_indel +1 more) | Bardet-Biedl syndrome 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 1 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Bardet-Biedl syndrome 1 | |