| | LOC112533659, LOC112533660 +2032 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | CD300LG, CFAP97D1 +29 more | Copy number gain | Anomalous pulmonary venous return | |
| | | Single nucleotide variant (3 prime UTR variant) | Sclerosteosis 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Sclerosteosis 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Primary bone dysplasia with increased bone density | |
| | | Deletion (3 prime UTR variant) | Primary bone dysplasia with increased bone density | |
| | | Single nucleotide variant (3 prime UTR variant) | Sclerosteosis 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Sclerosteosis 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Sclerosteosis 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Sclerosteosis 1 | |
| | | Deletion (3 prime UTR variant) | Primary bone dysplasia with increased bone density | |
| | | Single nucleotide variant (3 prime UTR variant) | Sclerosteosis 1 | |
| | | Insertion (3 prime UTR variant) | Primary bone dysplasia with increased bone density | |
| | | Single nucleotide variant (3 prime UTR variant) | Sclerosteosis 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Sclerosteosis 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Sclerosteosis 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Sclerosteosis 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Sclerosteosis 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Sclerosteosis 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Sclerosteosis 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Sclerosteosis 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Sclerosteosis 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Sclerosteosis 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Sclerosteosis 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Sclerosteosis 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Sclerosteosis 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Sclerosteosis 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Sclerosteosis 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Sclerosteosis 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Sclerosteosis 1 | |
| | | 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) | Sclerosteosis 1 | |
| | | Single nucleotide variant (missense variant) | Sclerosteosis 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Sclerosteosis 1 | |
| | | Single nucleotide variant (missense variant) | SOST-related disorder | |
| | | Single nucleotide variant (missense variant) | Sclerosteosis 1 | |
| | | Indel (nonsense) | Sclerosteosis 1 | |
| | | Indel (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Sclerosteosis 1 | |
| | | Single nucleotide variant (nonsense) | Sclerosteosis 1 | |
| | | Single nucleotide variant (nonsense) | Sclerosteosis 1 | |
| | | Single nucleotide variant (missense variant) | SOST-related disorder | |
| | | Single nucleotide variant (missense variant) | Sclerosteosis 1 | |
| | | Single nucleotide variant (nonsense) | Sclerosteosis 1 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Sclerosteosis 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Not Specified | Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant |
| | | Single nucleotide variant (intron variant) | Sclerosteosis 1 | |
| | | Single nucleotide variant (intron variant) | Sclerosteosis 1 | |
| | | Single nucleotide variant (splice donor variant) | Sclerosteosis 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | SOST-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Sclerosteosis 1 | |
| | | 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) | Sclerosteosis 1 | |
| | | Duplication (frameshift variant) | Sclerosteosis 1 | |
| | | Single nucleotide variant (nonsense) | Sclerosteosis 1 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Sclerosteosis 1 | |
| | | Single nucleotide variant (synonymous variant) | Sclerosteosis 1 | |
| | | Single nucleotide variant (missense variant) | Craniodiaphyseal dysplasia, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | SOST-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Sclerosteosis 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant) | Sclerosteosis 1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Sclerosteosis 1 | |
| | | Duplication | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not specified | |