| | LOC130057927, LOC130057928 +1764 more | Copy number gain | See cases | |
| | ADPGK, ADPGK-AS1 +197 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC116268473, LOC116268474 +1244 more | Copy number gain | See cases | |
| | ADPGK, ADPGK-AS1 +204 more | Copy number gain | See cases | |
| | LOC130057525, LOC130057526 +205 more | Duplication | Schizophrenia | |
| | LOC130057584, LOC130057585 +202 more | Copy number loss | See cases | |
| | ADPGK, ADPGK-AS1 +195 more | Copy number loss | See cases | |
| | ADPGK, ADPGK-AS1 +236 more | Copy number loss | See cases | |
| | LOC130057567, LOC130057568 +243 more | Copy number loss | See cases | |
| | | Single nucleotide variant | Bardet-Biedl syndrome 4 | |
| | | Single nucleotide variant | not specified +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Bardet-Biedl syndrome 4 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Bardet-Biedl syndrome 4 | |
| | | Deletion | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | BBS4-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Bardet-Biedl syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +3 more) | Bardet-Biedl syndrome +1 more | GPathogenic/Likely pathogenic |
| | | 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 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Bardet-Biedl syndrome +1 more | GPathogenic/Likely pathogenic |
| | | 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) | not specified +1 more | |
| | | 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) | BBS4-related disorder | |
| | | 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 | |
| | | 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) | BBS4-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Bardet-Biedl syndrome | |
| | | 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 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Bardet-Biedl syndrome 4 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Bardet-Biedl syndrome | |
| | | Microsatellite (non-coding transcript variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | BBS4-related disorder | |
| | | Single nucleotide variant (nonsense +2 more) | BBS4-related disorder | |
| | | Duplication (frameshift variant +2 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (nonsense +2 more) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Bardet-Biedl syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (nonsense +2 more) | Bardet-Biedl syndrome 4 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +2 more) | Bardet-Biedl syndrome 4 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +2 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (synonymous variant +2 more) | Bardet-Biedl syndrome 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Bardet-Biedl syndrome 4 +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (nonsense +2 more) | Bardet-Biedl syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant +2 more) | Bardet-Biedl syndrome 4 | |
| | | Single nucleotide variant (splice donor variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (splice donor variant +1 more) | Bardet-Biedl syndrome | |
| | | Deletion (intron variant) | Bardet-Biedl syndrome 4 | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Duplication (intron variant) | Bardet-Biedl syndrome 4 +1 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 4 +3 more | |
| | | Copy number loss | Bardet-Biedl syndrome | |
| | | Deletion (intron variant) | Bardet-Biedl syndrome 4 +1 more | |
| | | Deletion (intron variant) | BBS4-related disorder | |
| | | Deletion | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | BBS4-related disorder | |
| | | 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 4 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Bardet-Biedl syndrome | |