| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion | not provided | |
| | | Duplication | Atrial fibrillation, familial, 14 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with impaired language and dysmorphic facies | |
| | | Duplication (intron variant) | DDX6-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not specified | |
| | | Single nucleotide variant (missense variant) | DDX6-related disorder | |
| | | Single nucleotide variant (nonsense) | DDX6-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with impaired language and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Teratoma | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with impaired language and dysmorphic facies | |
| | | Duplication | not provided | |
| | | Duplication | Inflammatory bowel disease 28 +5 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with impaired language and dysmorphic facies | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Copy number gain | MISSED ABORTION | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with impaired language and dysmorphic facies | |
| | | 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) | Intellectual developmental disorder with impaired language and dysmorphic facies | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with impaired language and dysmorphic facies | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Duplication | not provided | |
| | | Deletion (splice donor variant) | Intellectual developmental disorder with impaired language and dysmorphic facies | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Intellectual developmental disorder with impaired language and dysmorphic facies +1 more | |
| | | Duplication | Immunodeficiency 18 +4 more | |
| | | Duplication | Distal trisomy 11q | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with impaired language and dysmorphic facies +1 more | GPathogenic/Likely pathogenic |
| | | Deletion | Inflammatory bowel disease 28 +3 more | |
| | | Copy number gain | not provided | |
| | | Deletion | Neurodevelopmental delay +7 more | |
| | | Duplication (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with impaired language and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with impaired language and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with impaired language and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with impaired language and dysmorphic facies | |
| | | Copy number gain | not provided | |
| | | Deletion | Long QT syndrome 10 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130007012, LOC130007013 +769 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC126861364, LOC126861365 +764 more | Copy number gain | See cases | |
| | LOC130006930, LOC130006931 +1199 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |