| | | Single nucleotide variant | Bardet-Biedl syndrome 4 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Bardet-Biedl syndrome 4 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Bardet-Biedl syndrome 4 +1 more | |
| | | Duplication (intron variant) | Bardet-Biedl syndrome 4 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Bardet-Biedl syndrome 4 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Bardet-Biedl syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 4 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Bardet-Biedl syndrome 4 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Bardet-Biedl syndrome 4 +1 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Bardet-Biedl syndrome 4 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Bardet-Biedl syndrome 4 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Bardet-Biedl syndrome 4 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Bardet-Biedl syndrome 4 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 4 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Bardet-Biedl syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 4 +1 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 4 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 4 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 4 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 4 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 4 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 4 +1 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 4 +3 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 4 +1 more | |
| | | Microsatellite (inframe_deletion +1 more) | Bardet-Biedl syndrome 4 +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | BBS4-related disorder +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome +3 more | |
| | | Duplication (inframe_insertion +1 more) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 4 +1 more | |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome +2 more | |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 4 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 4 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 4 +1 more | |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome 4 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome +2 more | |
| | | Microsatellite (frameshift variant +1 more) | Bardet-Biedl syndrome 4 +2 more | |