| | | Duplication (frameshift variant) | Bardet-Biedl syndrome 12 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome +1 more | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Bardet-Biedl syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | BBS12-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 12 | |
| | | Duplication (frameshift variant) | Bardet-Biedl syndrome 12 | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 12 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Bardet-Biedl syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 12 | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 12 | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 12 +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Bardet-Biedl syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 12 +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | BBS12-related condition +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome +1 more | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 12 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 12 | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome +2 more | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 12 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Abnormal cardiovascular system morphology +5 more | |
| | | Microsatellite (frameshift variant) | Bardet-Biedl syndrome 12 | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Indel (frameshift variant) | Bardet-Biedl syndrome 12 +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Bardet-Biedl syndrome 12 | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 12 +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (nonsense) | Retinal dystrophy +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 12 | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 12 | |
| | | Deletion (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 12 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 12 +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Bardet-Biedl syndrome 12 | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 12 | |
| | | Duplication (frameshift variant) | Bardet-Biedl syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 12 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 12 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome +3 more | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 12 | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 12 +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | Bardet-Biedl syndrome 12 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 12 | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 12 | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 12 | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Bardet-Biedl syndrome 12 | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Bardet-Biedl syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 12 | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 12 +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Bardet-Biedl syndrome 12 | |
| | | Microsatellite (frameshift variant) | BBS12-related condition +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 12 | |
| | | Microsatellite (inframe_deletion) | Bardet-Biedl syndrome 12 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 12 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 12 +1 more | GPathogenic/Likely pathogenic |