| | MIR636, MIR6516 +1033 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | C1QTNF1, C1QTNF1-AS1 +55 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Microsatellite (3 prime UTR variant) | Desbuquois syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Duplication (3 prime UTR variant) | Desbuquois syndrome | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (3 prime UTR variant) | CANT1-related disorder +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (missense variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | CANT1-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | CANT1-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense 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 (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Desbuquois dysplasia 1 | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Desbuquois dysplasia 1 +1 more | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Insertion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |