| | | Single nucleotide variant (non-coding transcript variant) | Retinitis Pigmentosa, Dominant +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Leber congenital amaurosis 11 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Leber congenital amaurosis 11 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Leber congenital amaurosis 11 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Leber congenital amaurosis 11 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Leber congenital amaurosis 11 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Leber congenital amaurosis 11 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Leber congenital amaurosis 11 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Leber congenital amaurosis 11 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Leber congenital amaurosis 11 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +4 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 11 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +2 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa +3 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 11 +1 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | IMPDH1-related condition +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 11 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Leber congenital amaurosis 11 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Leber congenital amaurosis 11 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +2 more | |
| | | Single nucleotide variant (synonymous variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +2 more | |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | IMPDH1-Related Disorders | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa +1 more | |
| | IMPDH1, LOC129999258 (R24P) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Leber congenital amaurosis 11 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Retinitis pigmentosa +1 more | |