| | | Copy number loss | See cases | |
| | | Deletion (frameshift variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (nonsense) | Bardet-Biedl syndrome 10 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 10 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Inversion (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 10 +2 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 10 +2 more | |
| | | Duplication (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Bardet-Biedl syndrome 10 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome +1 more | |
| | | Microsatellite (frameshift variant) | Bardet-Biedl syndrome +2 more | |
| | | Duplication (frameshift variant) | Bardet-Biedl syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome +9 more | GPathogenic/Likely pathogenic |
| | | Indel (nonsense) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Bardet-Biedl syndrome 10 +1 more | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |