| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Transposition of the great arteries, dextro-looped | |
| | | Single nucleotide variant (missense variant) | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | |
| | | Insertion (frameshift variant) | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | |
| | | Indel (frameshift variant) | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | Cardiac anomalies - developmental delay - facial dysmorphism syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Transposition of the great arteries, dextro-looped +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | |
| | | Copy number loss | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | |
| | | Copy number loss | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | |
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