| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129935343, LOC129935344 +1687 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129935480, LOC129935481 +1299 more | Copy number gain | See cases | |
| | LOC129935841, LOC129935842 +1148 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | IGFBP-AS1, IGFBP2 +16 more | Copy number gain | See cases | Gconflicting data from submitters |
| | LOC112806077, LOC129935569 +2 more | Inversion | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (5 prime UTR variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (5 prime UTR variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (5 prime UTR variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (5 prime UTR variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (5 prime UTR variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (5 prime UTR variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (5 prime UTR variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant) | Schimke immuno-osseous dysplasia | |
| | | Deletion | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant +1 more) | SMARCAL1-related disorder | |
| | | Single nucleotide variant (missense variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant) | Schimke immuno-osseous dysplasia +1 more | |
| | | Single nucleotide variant (nonsense) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (synonymous variant) | Kidney disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (nonsense) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia +1 more | |
| | | Duplication (frameshift variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant) | Schimke immuno-osseous dysplasia +1 more | |
| | | Single nucleotide variant (missense variant) | Schimke immuno-osseous dysplasia +2 more | |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia | |
| | | Deletion (nonsense) | Schimke immuno-osseous dysplasia | |
| | | Deletion (frameshift variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia | |
| | | Duplication (frameshift variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (missense variant) | Schimke immuno-osseous dysplasia | |
| | | Single nucleotide variant (synonymous variant) | Schimke immuno-osseous dysplasia | |
| | | Deletion (frameshift variant) | Schimke immuno-osseous dysplasia | |
| | | Microsatellite (frameshift variant) | Schimke immuno-osseous dysplasia | |