| | LOC123956263, LOC123956264 +4737 more | Copy number loss | See cases | |
| | LOC129999343, LOC129999344 +2213 more | Copy number gain | See cases | |
| | LOC129999548, LOC129999549 +1547 more | Copy number gain | See cases | |
| | LOC129999373, LOC129999374 +492 more | Copy number loss | See cases | |
| | LOC129999653, LOC129999654 +1380 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129999356, LOC129999357 +284 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | IMPDH1, LOC129999258 (E46A) | Single nucleotide variant (missense variant) | not provided | |
| | IMPDH1, LOC129999258 (Y45N) | Single nucleotide variant (missense variant) | not provided | |
| | IMPDH1, LOC129999258 (Y45H) | Single nucleotide variant (missense variant) | not provided | |
| | IMPDH1, LOC129999258 (G44R) | Single nucleotide variant (missense variant) | not provided | |
| | LOC129999258, IMPDH1 (A43V) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | IMPDH1, LOC129999258 (R39Q) | Single nucleotide variant (missense variant) | not provided | |
| | IMPDH1, LOC129999258 (A38S) | Single nucleotide variant (missense variant) | not provided | |
| | IMPDH1, LOC129999258 (A38T) | Single nucleotide variant (missense variant) | not provided | |
| | IMPDH1, LOC129999258 (R35Q) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Retinal dystrophy +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | IMPDH1, LOC129999258 (Q25fs) | Insertion (frameshift variant) | not provided | |
| | IMPDH1, LOC129999258 (Q25fs) | Microsatellite (frameshift variant) | not provided | GConflicting classifications of pathogenicity |
| | IMPDH1, LOC129999258 (A23fs) | Microsatellite (frameshift variant) | not provided | |
| | IMPDH1, LOC129999258 (R24P) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | IMPDH1, LOC129999258 (R24W) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | IMPDH1, LOC129999258 (V18F) | Single nucleotide variant (missense variant) | not provided | |
| | IMPDH1, LOC129999258 (Q11fs) | Deletion (frameshift variant) | not provided | |
| | LOC129999258, IMPDH1 (A17G) | Single nucleotide variant (missense variant) | not provided | |
| | LOC129999258, IMPDH1 (A17V) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | IMPDH1, LOC129999258 (L10R) | Single nucleotide variant (missense variant) | not provided | |
| | IMPDH1, LOC129999258 (L10M) | Indel (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | IMPDH1, LOC129999258 (P7S) | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | IMPDH1, LOC129999258 (P4S) | Single nucleotide variant (missense variant) | not provided | |
| | | 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 | |