| | | Single nucleotide variant (intron variant) | Osteoporosis with pseudoglioma +8 more | |
| | | Single nucleotide variant (intron variant) | Exudative vitreoretinopathy 4 +8 more | |
| | | Single nucleotide variant (intron variant) | not provided +8 more | |
| | | Single nucleotide variant (intron variant) | not provided +8 more | |
| | | Single nucleotide variant (intron variant) | Exudative vitreoretinopathy 1 +8 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +8 more | |
| | | Single nucleotide variant (intron variant) | not provided +8 more | |
| | | Single nucleotide variant (intron variant) | not provided +8 more | |
| | | Single nucleotide variant (synonymous variant) | Worth disease +8 more | |
| | | Single nucleotide variant (intron variant) | not provided +8 more | |
| | | Single nucleotide variant (synonymous variant) | Exudative vitreoretinopathy 1 +8 more | |
| | | Duplication (intron variant) | not provided +8 more | |
| | | Single nucleotide variant (synonymous variant) | Exudative vitreoretinopathy 1 +8 more | |
| | | Single nucleotide variant (intron variant) | not provided +8 more | |
| | | Single nucleotide variant (synonymous variant) | Exudative vitreoretinopathy 4 +8 more | |
| | | Microsatellite (intron variant) | Autosomal dominant osteopetrosis 1 +8 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +8 more | |
| | | Single nucleotide variant (intron variant) | not provided +8 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Exudative vitreoretinopathy 1 +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Polycystic liver disease 4 with or without kidney cysts +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (intron variant) | Polycystic liver disease 4 with or without kidney cysts +8 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Exudative vitreoretinopathy 1 +8 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +9 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant osteopetrosis 1 +8 more | |
| | | Single nucleotide variant (missense variant) | Osteoporosis with pseudoglioma +8 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +9 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | Worth disease +8 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Worth disease +8 more | |
| | | Single nucleotide variant (missense variant) | Bone mineral density quantitative trait locus 1 +8 more | |
| | | Single nucleotide variant (missense variant) | Bone mineral density quantitative trait locus 1 +9 more | |
| | | Single nucleotide variant (intron variant) | Exudative vitreoretinopathy 1 +8 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Inborn genetic diseases +9 more | |
| | | Single nucleotide variant (missense variant) | Exudative vitreoretinopathy 1 +8 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Bone mineral density quantitative trait locus 1 +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bone mineral density quantitative trait locus 1 +8 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | Exudative vitreoretinopathy 1 +8 more | |
| | | Single nucleotide variant (missense variant) | Exudative vitreoretinopathy 1 +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | Exudative vitreoretinopathy 1 +8 more | |
| | | Single nucleotide variant (missense variant) | Exudative vitreoretinopathy 1 +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Autosomal dominant osteopetrosis 1 +9 more | |
| | | Microsatellite (5 prime UTR variant +1 more) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | Exudative vitreoretinopathy 1 +8 more | |
| | | Single nucleotide variant (missense variant) | Bone mineral density quantitative trait locus 1 +8 more | |
| | | Single nucleotide variant (missense variant) | Bone mineral density quantitative trait locus 1 +8 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +8 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +8 more | |
| | | Single nucleotide variant (intron variant) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | Bone mineral density quantitative trait locus 1 +8 more | |
| | | Single nucleotide variant (intron variant) | Bone mineral density quantitative trait locus 1 +8 more | |
| | | Single nucleotide variant (missense variant) | Exudative vitreoretinopathy 1 +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | Exudative vitreoretinopathy 4 +8 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Worth disease | |
| | | Single nucleotide variant (missense variant) | Exudative vitreoretinopathy 4 +8 more | |
| | | Single nucleotide variant (missense variant) | Worth disease +8 more | |
| | | Single nucleotide variant (missense variant) | Bone mineral density quantitative trait locus 1 +8 more | |
| | | Single nucleotide variant (missense variant) | Exudative vitreoretinopathy 4 +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Exudative vitreoretinopathy 4 +8 more | |
| | | Single nucleotide variant (intron variant) | not provided +8 more | |
| | | Single nucleotide variant (intron variant) | not provided +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Worth disease +8 more | |
| | | Single nucleotide variant (intron variant) | not provided +8 more | |
| | | Single nucleotide variant (intron variant) | not specified +9 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +8 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant osteopetrosis 1 +8 more | |
| | | Microsatellite (intron variant) | Bone mineral density quantitative trait locus 1 +8 more | |
| | | Single nucleotide variant (synonymous variant) | Worth disease +8 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +8 more | |
| | | Single nucleotide variant (intron variant) | not provided +8 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +8 more | |
| | | Single nucleotide variant (intron variant) | not provided +8 more | |
| | | Single nucleotide variant (synonymous variant) | Exudative vitreoretinopathy 1 +8 more | |
| | | Single nucleotide variant (intron variant) | Exudative vitreoretinopathy 1 +8 more | |
| | | Single nucleotide variant (intron variant) | Exudative vitreoretinopathy 1 +8 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant osteopetrosis 1 +8 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +8 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant osteopetrosis 1 +8 more | |
| | | Single nucleotide variant (intron variant) | not provided +8 more | |
| | | Single nucleotide variant (synonymous variant) | Exudative vitreoretinopathy 1 +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +8 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal dominant osteopetrosis 1 +8 more | |
| | | Single nucleotide variant (intron variant) | Osteoporosis +8 more | |
| | | Single nucleotide variant (synonymous variant) | Osteoporosis with pseudoglioma +8 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +8 more | |