| | | Copy number loss | See cases | |
| | | Single nucleotide variant (splice acceptor variant) | Retinitis pigmentosa 55 | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | ARL6-related disorder | |
| | | Single nucleotide variant (intron variant) | ARL6-related disorder | |
| | | Single nucleotide variant (splice donor variant) | Retinal dystrophy | |
| | | Deletion (intron variant) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 3 +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 (synonymous variant +1 more) | 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) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (intron variant) | 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 (synonymous variant +1 more) | Retinitis pigmentosa 55 +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) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (splice donor variant) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Microsatellite (intron variant) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 55 +1 more | |
| | | Deletion (intron variant) | Retinitis pigmentosa 55 +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 (non-coding transcript variant +1 more) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Retinitis pigmentosa 55 +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 (synonymous variant +1 more) | Retinitis pigmentosa 55 +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 (synonymous variant +1 more) | Retinitis pigmentosa 55 +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) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Retinitis pigmentosa 55 +1 more | |
| | | Microsatellite (intron variant) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +3 more) | Bardet-Biedl syndrome 3 +1 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 (non-coding transcript 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 (intron variant) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (non-coding transcript 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 (non-coding transcript variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Bardet-Biedl syndrome 3 +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 | |
| | | Deletion (splice acceptor variant) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (non-coding transcript 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) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 3 +1 more | |
| | | Copy number loss | Chromosome 3q13.31 deletion syndrome | |
| | | Deletion | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | |
| | | Duplication | Bardet-Biedl syndrome | |
| | | Duplication | Bardet-Biedl syndrome 3 +1 more | |
| | | Duplication | Bardet-Biedl syndrome 3 +1 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 (intron variant) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (non-coding transcript 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 (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) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Retinitis pigmentosa 55 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 3 +1 more | |
| | | Deletion (intron variant) | Bardet-Biedl syndrome 3 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 3 +1 more | |