| | LOC130064925, LOC130064926 +1081 more | Copy number gain | See cases | |
| | LOC130064903, LOC130064904 +1093 more | Copy number gain | See cases | |
| | LOC130065082, LOC130065083 +806 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130065034, LOC130065035 +761 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | Retinitis pigmentosa 11 | |
| | | Copy number loss | Retinitis pigmentosa 11 | |
| | NDUFA3, TFPT (D230G +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | NDUFA3, TFPT (F223S +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | Retinitis pigmentosa 11 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | PRPF31, PRPF31-AS1 +1 more | Copy number loss | Retinitis pigmentosa 11 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Deletion (5 prime UTR variant) | PRPF31-related disorder | |
| | | Single nucleotide variant (5 prime UTR variant) | Retinitis Pigmentosa, Dominant +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Retinitis Pigmentosa, Dominant +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | PRPF31, PRPF31-AS1 +1 more | Single nucleotide variant (splice donor variant) | Retinitis pigmentosa +1 more | GPathogenic/Likely pathogenic |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | not provided | |
| | | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | PPP1R15A, PPP2R1A +308 more | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Retinitis pigmentosa 11 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | PGLYRP1, PGLYRP2 +1364 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |