| | | Single nucleotide variant (nonsense +2 more) | Bardet-Biedl syndrome 17 | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 17 | |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial aplasia of the vermis +26 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Bardet-Biedl syndrome 18 | |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Bardet-Biedl syndrome 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Familial aplasia of the vermis +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Bardet-Biedl syndrome | |
| | | Duplication (frameshift variant +2 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | Bardet-Biedl syndrome | |
| | | Deletion (intron variant) | Bardet-Biedl syndrome 4 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (splice donor variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not specified +1 more | |
| | | Deletion (inframe_deletion) | Meckel syndrome, type 1 +9 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant) | Bardet-Biedl syndrome +3 more | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Bardet-Biedl syndrome | |
| | LOC128706665, LOC128706666
+1 more | Duplication (5 prime UTR variant +1 more) | Bardet-Biedl syndrome | |