| | BBS2, OGFOD1 (S231L +5 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | BBS2, OGFOD1 (I342F +5 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | BBS2, OGFOD1 (I376T +5 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | BBS2, OGFOD1 (R464Q +5 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | BBS2, OGFOD1 (P388R +5 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | BBS2, OGFOD1 (S537A +5 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 74 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 2 +7 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 74 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | BBS2-related condition +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome +1 more | |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 2 +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | BBS2-related condition +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |