| | LOC123775388, LOC123775389 +1449 more | Copy number gain | See cases | |
| | LOC129389591, LOC129389592 +558 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Intellectual disability, autosomal dominant 55, with seizures | |
| | LOC129389639, LOC129389640 +254 more | Copy number loss | See cases | |
| | | Deletion | Interstitial 6q microdeletion syndrome | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | GJA1, LOC129997089 +11 more | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | Hypoplastic left heart syndrome 1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hypoplastic left heart syndrome 1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hypoplastic left heart syndrome 1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Hypoplastic left heart syndrome 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Hypoplastic left heart syndrome 1 +2 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Syndactyly type 3 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Hypoplastic left heart syndrome 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant palmoplantar keratoderma and congenital alopecia | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia | |
| | | Single nucleotide variant (nonsense) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia | |
| | | 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) | Inborn genetic diseases +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia | |
| | | Single nucleotide variant (nonsense) | 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 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion (inframe_deletion) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Deletion (inframe_deletion) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant palmoplantar keratoderma and congenital alopecia +8 more | |
| | | Single nucleotide variant (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Syndactyly type 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Erythrokeratodermia variabilis et progressiva 3 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Duplication (inframe_insertion) | Oculodentodigital dysplasia | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Duplication (nonsense) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | 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) | Inborn genetic diseases | |
| | | 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) | not provided | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | 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 +1 more | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Hypoplastic left heart syndrome 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia | |
| | | 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 +1 more | |
| | | 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 (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 (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Deletion (inframe_indel) | Atrioventricular septal defect and common atrioventricular junction | |
| | | Single nucleotide variant (missense variant) | Oculodentodigital dysplasia, autosomal recessive | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |