| | LOC126861648, LOC126861649 +4836 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | See cases | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Transposition of the great arteries, dextro-looped | |
| | | Single nucleotide variant (synonymous variant) | Transposition of the great arteries, dextro-looped | |
| | | Single nucleotide variant (missense variant) | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | |
| | | Duplication (frameshift variant) | Transposition of the great arteries, dextro-looped | |
| | | Single nucleotide variant (missense variant) | Transposition of the great arteries, dextro-looped | |
| | | Single nucleotide variant (missense variant) | Transposition of the great arteries, dextro-looped | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Transposition of the great arteries, dextro-looped | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Transposition of the great arteries, dextro-looped | |
| | | Single nucleotide variant (synonymous variant) | Transposition of the great arteries, dextro-looped | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Transposition of the great arteries, dextro-looped | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Transposition of the great arteries, dextro-looped | |
| | | Single nucleotide variant (intron variant) | Transposition of the great arteries, dextro-looped | |
| | | Single nucleotide variant (intron variant) | Transposition of the great arteries, dextro-looped | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Transposition of the great arteries, dextro-looped | |
| | | Single nucleotide variant (missense variant) | Transposition of the great arteries, dextro-looped +2 more | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Transposition of the great arteries, dextro-looped | |
| | | Single nucleotide variant (synonymous variant) | Transposition of the great arteries, dextro-looped | |
| | | Single nucleotide variant (synonymous variant) | Transposition of the great arteries, dextro-looped | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Transposition of the great arteries, dextro-looped | |
| | | Duplication (intron variant) | Transposition of the great arteries, dextro-looped | |
| | | Single nucleotide variant (intron variant) | Transposition of the great arteries, dextro-looped | |
| | | Microsatellite (intron variant) | Transposition of the great arteries, dextro-looped | |
| | | Single nucleotide variant (intron variant) | Transposition of the great arteries, dextro-looped | |
| | | Insertion (intron variant) | Transposition of the great arteries, dextro-looped | |
| | | Deletion (intron variant) | Transposition of the great arteries, dextro-looped | |
| | | Single nucleotide variant (intron variant) | Transposition of the great arteries, dextro-looped | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | |
| | | Single nucleotide variant (synonymous variant) | Transposition of the great arteries, dextro-looped +1 more | |
| | | Single nucleotide variant (synonymous variant) | Transposition of the great arteries, dextro-looped +1 more | |
| | | Single nucleotide variant (missense variant) | Transposition of the great arteries, dextro-looped +1 more | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | |
| | | Deletion (frameshift variant) | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Transposition of the great arteries, dextro-looped | |
| | | Single nucleotide variant (synonymous variant) | Transposition of the great arteries, dextro-looped | |
| | | Single nucleotide variant (missense variant) | Transposition of the great arteries, dextro-looped | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Transposition of the great arteries, dextro-looped | |
| | | Single nucleotide variant (missense variant) | Transposition of the great arteries, dextro-looped | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Transposition of the great arteries, dextro-looped +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Transposition of the great arteries, dextro-looped | |
| | | Single nucleotide variant (missense variant) | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | |
| | | Deletion (frameshift variant) | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | Transposition of the great arteries, dextro-looped | |
| | | Duplication (frameshift variant) | Transposition of the great arteries, dextro-looped | |
| | | Deletion (frameshift variant) | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | |
| | | Single nucleotide variant (intron variant) | Transposition of the great arteries, dextro-looped +1 more | |
| | | Duplication (frameshift variant) | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | |
| | | Single nucleotide variant (synonymous variant) | Transposition of the great arteries, dextro-looped | |
| | | Single nucleotide variant (missense variant) | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Transposition of the great arteries, dextro-looped | |
| | | 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) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Transposition of the great arteries, dextro-looped | |
| | | Deletion (frameshift variant) | Intellectual disability | |
| | | Single nucleotide variant (synonymous variant) | Transposition of the great arteries, dextro-looped | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Transposition of the great arteries, dextro-looped | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Transposition of the great arteries, dextro-looped | |
| | | Deletion (intron variant) | Transposition of the great arteries, dextro-looped | |
| | | Single nucleotide variant (intron variant) | Transposition of the great arteries, dextro-looped | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Transposition of the great arteries, dextro-looped | |
| | | Single nucleotide variant (intron variant) | Transposition of the great arteries, dextro-looped | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Transposition of the great arteries, dextro-looped | |
| | | Single nucleotide variant (synonymous variant) | Transposition of the great arteries, dextro-looped | |
| | | Deletion (frameshift variant) | Cardiac anomalies - developmental delay - facial dysmorphism syndrome | |
| | | Single nucleotide variant (missense variant) | Transposition of the great arteries, dextro-looped | |