| | | Copy number gain | See cases | |
| | LOC112935964, LOC112935965 +171 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | CCDC54-AS1, LOC123002328 +682 more | Copy number loss | Chromosome 3q13.31 deletion syndrome | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Retinitis Pigmentosa, Recessive +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 3 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 3 | |
| | | Single nucleotide variant (missense variant +2 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 3 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome 3 +2 more | |
| | | Microsatellite (inframe_deletion +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 1 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 3 +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | ARL6-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | ARL6-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 3 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number loss | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | ARL6-related disorder +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 55 +3 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome 3 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome 3 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 3 | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 3 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 3 +1 more | |