| | | Copy number gain | See cases | |
| | LOC126863153, LOC126863154 +2088 more | Copy number gain | See cases | |
| | LOC130067137, LOC130067138 +823 more | Copy number gain | See cases | |
| | LOC130067246, LOC130067247 +556 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Indel (missense variant +1 more) | Cerebellar vermis atrophy +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Fundus dystrophy, pseudoinflammatory, recessive form | |
| | | Single nucleotide variant (intron variant) | Sorsby fundus dystrophy | |
| | | Single nucleotide variant (intron variant) | Sorsby fundus dystrophy | |
| | | Single nucleotide variant (intron variant) | Sorsby fundus dystrophy | |
| | | Single nucleotide variant (intron variant) | Sorsby fundus dystrophy | |
| | | Single nucleotide variant (intron variant) | Sorsby fundus dystrophy | |
| | | Single nucleotide variant (intron variant) | Sorsby fundus dystrophy | |
| | | Single nucleotide variant (intron variant) | Sorsby fundus dystrophy | |
| | | Single nucleotide variant (intron variant) | Sorsby fundus dystrophy | |
| | | Single nucleotide variant (intron variant) | Sorsby fundus dystrophy | |
| | | Single nucleotide variant (intron variant) | Sorsby fundus dystrophy | |
| | | Single nucleotide variant (intron variant) | Sorsby fundus dystrophy | |
| | | Single nucleotide variant (intron variant) | Sorsby fundus dystrophy | |
| | | Single nucleotide variant (intron variant) | Sorsby fundus dystrophy | |
| | | Single nucleotide variant (intron variant) | Sorsby fundus dystrophy | |
| | | Single nucleotide variant (intron variant) | Sorsby fundus dystrophy | |
| | | Single nucleotide variant (intron variant) | Sorsby fundus dystrophy | |
| | | Single nucleotide variant (intron variant) | Sorsby fundus dystrophy | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Sorsby fundus dystrophy | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Sorsby fundus dystrophy | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Sorsby fundus dystrophy | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Sorsby fundus dystrophy | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Sorsby fundus dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Sorsby fundus dystrophy | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Sorsby fundus dystrophy +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | 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 (synonymous variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |