| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | C17orf107, C17orf114 +498 more | Copy number loss | See cases | |
| | LOC130060077, LOC130060078 +911 more | Copy number gain | Chromosome 17p13.3 duplication syndrome | |
| | | Copy number gain | See cases | |
| | LOC130060037, LOC130060038 +291 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Deletion (3 prime UTR variant) | Cone-Rod Dystrophy, Dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Duplication (3 prime UTR variant) | Cone-Rod Dystrophy, Dominant | |
| | | Insertion (3 prime UTR variant) | Cone-Rod Dystrophy, Dominant | |
| | | Deletion (3 prime UTR variant) | Cone-Rod Dystrophy, Dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Insertion (3 prime UTR variant) | Cone-Rod Dystrophy, Dominant | |
| | | Insertion (3 prime UTR variant) | Cone-Rod Dystrophy, Dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Insertion (3 prime UTR variant) | Cone-Rod Dystrophy, Dominant | |
| | | Insertion (3 prime UTR variant) | Cone-Rod Dystrophy, Dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Deletion (3 prime UTR variant) | Cone-Rod Dystrophy, Dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Indel (3 prime UTR variant) | Cone-Rod Dystrophy, Dominant | |
| | | Deletion (3 prime UTR variant) | Cone-Rod Dystrophy, Dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Insertion (3 prime UTR variant) | Cone-Rod Dystrophy, Dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Duplication (3 prime UTR variant) | Cone-Rod Dystrophy, Dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Insertion (3 prime UTR variant) | Cone-Rod Dystrophy, Dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Microsatellite (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Microsatellite (3 prime UTR variant) | Cone-Rod Dystrophy, Dominant | |
| | | Microsatellite (3 prime UTR variant) | Cone-Rod Dystrophy, Dominant | |
| | | Deletion (3 prime UTR variant) | Cone-Rod Dystrophy, Dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Microsatellite (3 prime UTR variant) | not provided | |
| | | Microsatellite (3 prime UTR variant) | Cone-Rod Dystrophy, Dominant | |
| | | Microsatellite (3 prime UTR variant) | Cone-Rod Dystrophy, Dominant | |
| | | Microsatellite (3 prime UTR variant) | Cone-Rod Dystrophy, Dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Deletion (3 prime UTR variant) | Cone-Rod Dystrophy, Dominant | |
| | | Indel (3 prime UTR variant) | Cone-Rod Dystrophy, Dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Microsatellite (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Microsatellite (3 prime UTR variant) | Cone-Rod Dystrophy, Dominant | |
| | | Microsatellite (3 prime UTR variant) | Cone-Rod Dystrophy, Dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Deletion (3 prime UTR variant) | Cone-Rod Dystrophy, Dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Deletion (3 prime UTR variant) | Cone-Rod Dystrophy, Dominant | |
| | | Deletion (3 prime UTR variant) | Cone-Rod Dystrophy, Dominant | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Cone-rod dystrophy 5 | |