| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with cardiac defects and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with cardiac defects and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with cardiac defects and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with cardiac defects and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with cardiac defects and dysmorphic facies | |
| | | Duplication (frameshift variant) | Intellectual developmental disorder with cardiac defects and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with cardiac defects and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with cardiac defects and dysmorphic facies | |
| | | Single nucleotide variant (intron variant) | Intellectual developmental disorder with cardiac defects and dysmorphic facies | |
| | | Single nucleotide variant (synonymous variant) | Intellectual developmental disorder with cardiac defects and dysmorphic facies | |
| | | Single nucleotide variant (splice acceptor variant) | Intellectual developmental disorder with cardiac defects and dysmorphic facies | |
| | | Duplication (frameshift variant) | Intellectual developmental disorder with cardiac defects and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with cardiac defects and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with cardiac defects and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with cardiac defects and dysmorphic facies | |
| | | Indel (missense variant) | Intellectual developmental disorder with cardiac defects and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with cardiac defects and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with cardiac defects and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with cardiac defects and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with cardiac defects and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder with cardiac defects and dysmorphic facies | |
| | | Single nucleotide variant (nonsense) | Intellectual developmental disorder with cardiac defects and dysmorphic facies | |
| | | Single nucleotide variant (intron variant) | Intellectual developmental disorder with cardiac defects and dysmorphic facies | |
| | | Deletion (frameshift variant) | Intellectual developmental disorder with cardiac defects and dysmorphic facies | |
| | | Single nucleotide variant (nonsense) | Intellectual developmental disorder with cardiac defects and dysmorphic facies | |
| | | Single nucleotide variant (splice acceptor variant) | TMEM94-related condition | |
| | | Duplication (frameshift variant) | TMEM94-related condition | |