| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Oculodentodigital dysplasia | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (nonsense) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Microsatellite (inframe_deletion) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | GJA1-related disorder | |
| | | Single nucleotide variant (missense variant) | GJA1-related disorder | |
| | | Single nucleotide variant (missense variant) | GJA1-related disorder | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | Intellectual disability, autosomal dominant 55, with seizures | |
| | | Copy number loss | 6q terminal deletion syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | GJA1-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Duplication (inframe_insertion) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive +1 more | |
| | | Single nucleotide variant (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | ARHGAP18, C6orf58 +27 more | Copy number loss | not provided | |