| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935164, LOC129935165 +697 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126806416, LOC126806417 +591 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | CALCRL, CALCRL-AS1 +88 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Deletion | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis Pigmentosa, Recessive | |
| | | Duplication (3 prime UTR variant +1 more) | Retinitis Pigmentosa, Recessive | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis Pigmentosa, Recessive | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa | |
| | | Duplication (3 prime UTR variant +1 more) | Retinitis Pigmentosa, Recessive | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa | |
| | | Deletion (3 prime UTR variant +1 more) | Retinitis Pigmentosa, Recessive | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | |
| | | Indel (3 prime UTR variant +1 more) | Retinitis Pigmentosa, Recessive | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinitis pigmentosa | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Duplication (inframe_insertion +2 more) | Retinal dystrophy | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | CERKL, ITGA4 (K419fs +4 more) | Duplication (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | CERKL, ITGA4 (P418L +4 more) | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | CERKL, ITGA4 (I417T +4 more) | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | ITGA4, CERKL (M460fs +4 more) | Deletion (3 prime UTR variant +2 more) | not provided | |
| | CERKL, ITGA4 (E459* +4 more) | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | CERKL, ITGA4 (G505fs +4 more) | Deletion (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | CERKL, ITGA4 (E414K +4 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | CERKL, ITGA4 (Y522* +4 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Retinal dystrophy | |
| | CERKL, ITGA4 (G454fs +4 more) | Duplication (3 prime UTR variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | CERKL, ITGA4 (Y409D +4 more) | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | CERKL, ITGA4 (L503P +4 more) | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | CERKL, ITGA4 (S407fs +4 more) | Duplication (3 prime UTR variant +2 more) | Retinitis pigmentosa 26 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | CERKL, ITGA4 (I545T +4 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Retinitis pigmentosa 26 +2 more | |
| | CERKL, ITGA4 (I406fs +4 more) | Duplication (3 prime UTR variant +2 more) | not provided | |
| | CERKL, ITGA4 (I450fs +4 more) | Duplication (3 prime UTR variant +2 more) | Retinitis pigmentosa 26 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Inversion (3 prime UTR variant +1 more) | Retinitis pigmentosa 26 | |
| | CERKL, ITGA4 (L405F +4 more) | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Inversion (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Retinitis pigmentosa +1 more | |
| | CERKL, ITGA4 (H402Y +4 more) | Single nucleotide variant (3 prime UTR variant +2 more) | Inborn genetic diseases +2 more | |
| | CERKL, ITGA4 (L401S +4 more) | Single nucleotide variant (3 prime UTR variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Retinal dystrophy | |
| | | Duplication (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Duplication (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |