| | IMPDH1, LOC129999258 (Y45N) | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication | not provided | |
| | | Deletion | not provided | |
| | IMPDH1, LOC129999258 (V18F) | Single nucleotide variant (missense variant) | not provided | |
| | IMPDH1, LOC129999258 (A23fs) | Microsatellite (frameshift variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | IMPDH1, LOC129999258 (Q25fs) | Insertion (frameshift variant) | not provided | |
| | IMPDH1, LOC129999258 (L10R) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | IMPDH1, LOC129999258 (Q11fs) | Deletion (frameshift variant) | not provided | |
| | IMPDH1, LOC129999258 (A38S) | Single nucleotide variant (missense variant) | not provided | |
| | IMPDH1, LOC129999258 (R39Q) | Single nucleotide variant (missense variant) | not provided | |
| | IMPDH1, LOC129999258 (L10M) | Indel (missense variant) | not provided | |
| | IMPDH1, LOC129999258 (P4S) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | IMPDH1, LOC129999258 (E46A) | Single nucleotide variant (missense variant) | not provided | |
| | IMPDH1, LOC129999258 (R24W) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Retinal dystrophy +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC129999258, IMPDH1 (A43V) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC129999258, IMPDH1 (A17G) | Single nucleotide variant (missense variant) | not provided | |
| | IMPDH1, LOC129999258 (R35Q) | Single nucleotide variant (missense variant) | not provided | |
| | IMPDH1, LOC129999258 (A38T) | Single nucleotide variant (missense variant) | not provided | |
| | IMPDH1, LOC129999258 (G44R) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | IMPDH1, LOC129999258 (Y45H) | Single nucleotide variant (missense variant) | not provided | |
| | LOC129999258, IMPDH1 (A17V) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 11 | |
| | | Single nucleotide variant (missense variant) | Leber congenital amaurosis 11 | |
| | | Single nucleotide variant (missense variant +1 more) | Leber congenital amaurosis 11 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | 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 (non-coding transcript variant +1 more) | 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 (intron variant) | Retinitis pigmentosa +1 more | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Indel (missense variant) | Retinal dystrophy | |
| | | Insertion (inframe_insertion) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Microsatellite (inframe_insertion) | Retinal dystrophy | |
| | IMPDH1, LOC129999258 (P7S) | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy | |
| | 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) | Leber congenital amaurosis 11 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Leber congenital amaurosis 11 +1 more | |
| | IMPDH1, LOC129999258 (Q25fs) | Microsatellite (frameshift variant) | not provided | GConflicting classifications of pathogenicity |