| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | FOXD1-related condition | |
| | | Duplication (inframe insertion) | FOXD1-related condition | |
| | | Single nucleotide variant (missense variant) | FOXD1-related condition | |
| | | Microsatellite (inframe deletion) | FOXD1-related condition | |
| | | Single nucleotide variant (synonymous variant) | FOXD1-related condition | |
| | | Single nucleotide variant (synonymous variant) | FOXD1-related condition | |
| | | Single nucleotide variant (synonymous variant) | FOXD1-related condition | |
| | | Single nucleotide variant (synonymous variant) | FOXD1-related condition | |
| | | Single nucleotide variant (synonymous variant) | FOXD1-related condition | |
| | | Single nucleotide variant (synonymous variant) | FOXD1-related condition | |
| | | Single nucleotide variant (synonymous variant) | FOXD1-related condition | |
| | | Single nucleotide variant (synonymous variant) | FOXD1-related condition | |
| | | Deletion (inframe deletion) | FOXD1-related condition | |
| | | Single nucleotide variant (synonymous variant) | FOXD1-related condition | |
| | | Single nucleotide variant (synonymous variant) | FOXD1-related condition | |
| | | Microsatellite (5 prime UTR variant) | FOXD1-related condition | |
| | | Duplication (frameshift variant) | FOXD1-related condition | |
| | | Single nucleotide variant (synonymous variant) | FOXD1-related condition | |
| | | Single nucleotide variant (synonymous variant) | FOXD1-related condition | |
| | | Single nucleotide variant (synonymous variant) | FOXD1-related condition | |
| | | Single nucleotide variant (synonymous variant) | FOXD1-related condition | |
| | | Single nucleotide variant (5 prime UTR variant) | FOXD1-related condition | |
| | | Deletion (inframe deletion) | FOXD1-related condition | |
| | | Single nucleotide variant (synonymous variant) | FOXD1-related condition | |
| | | Single nucleotide variant (synonymous variant) | FOXD1-related condition | |
| | | Single nucleotide variant (synonymous variant) | FOXD1-related condition | |
| | | Microsatellite (inframe insertion) | FOXD1-related condition | |
| | | Single nucleotide variant (synonymous variant) | FOXD1-related condition | |
| | | Single nucleotide variant (synonymous variant) | FOXD1-related condition | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (synonymous variant) | FOXD1-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Hereditary breast ovarian cancer syndrome | |
| | LINC02219, LINC02229 +265 more | Copy number loss | Intellectual disability | |
| | C5orf24, C5orf34 +600 more | Deletion | Neurodevelopmental disorder | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC123497907, LOC123497908 +1445 more | Copy number gain | See cases | |