| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 5 +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (nonsense) | Bardet-Biedl syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 5 | |
| | | Deletion (splice donor variant) | Bardet-Biedl syndrome 5 | |
| | | Single nucleotide variant (splice acceptor variant) | Bardet-Biedl syndrome 5 | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 5 | |
| | | Deletion | Bardet-Biedl syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 5 | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 5 | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome +1 more | |
| | | Deletion (intron variant) | Bardet-Biedl syndrome +1 more | |
| | | Insertion (frameshift variant) | Bardet-Biedl syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (nonsense) | Bardet-Biedl syndrome 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 5 +1 more | |
| | | Duplication (nonsense) | Bardet-Biedl syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 5 +2 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Retinal dystrophy +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 5 | |
| | | Single nucleotide variant (synonymous variant) | Bardet-Biedl syndrome 5 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Bardet-Biedl syndrome 5 +2 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 5 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Bardet-Biedl syndrome 5 | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Bardet-Biedl syndrome 5 | |
| | | Single nucleotide variant (splice acceptor variant) | Bardet-Biedl syndrome 5 +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Bardet-Biedl syndrome +2 more | |
| | | Duplication (frameshift variant) | Bardet-Biedl syndrome 5 | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 5 | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 5 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome | |
| | | Indel | Bardet-Biedl syndrome 5 | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 5 | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |