| | LOC130057806, LOC130057807 +1763 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130057831, LOC130057832 +664 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC130057938, LOC130057939 +611 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC121530602, LOC121530603 +517 more | Copy number gain | See cases | |
| | LOC129390732, LOC129390733 +500 more | Copy number gain | See cases | |
| | LOC126862240, LOC126862241 +311 more | Copy number gain | See cases | |
| | ADAMTS17, ALDH1A3 +422 more | Copy number gain | See cases | |
| | ADAMTS17, ALDH1A3 +228 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +205 more | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +218 more | Copy number gain | See cases | |
| | ADAMTS17, ALDH1A3 +202 more | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +203 more | Copy number loss | See cases | |
| | ADAMTS17, ALDH1A3 +201 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | ADAMTS17, ALDH1A3 +195 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (nonsense +1 more) | NR2F2 associated disorders | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | NR2F2-related disorder | |
| | | Single nucleotide variant (nonsense +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Duplication (frameshift variant +1 more) | Congenital heart defects, multiple types, 4 | |
| | | Deletion (frameshift variant +1 more) | Congenital heart defects, multiple types, 4 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital heart defects, multiple types, 4 +1 more | |
| | | Deletion (frameshift variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | NR2F2-related congenital heart defects | |
| | | Single nucleotide variant (missense variant +1 more) | NR2F2-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron variant +1 more) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital heart defects, multiple types, 4 | |
| | | Microsatellite (inframe_insertion +1 more) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital heart defects, multiple types, 4 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | NR2F2 associated disorders | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (missense variant +1 more) | NR2F2 associated disorders | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (missense variant +1 more) | NR2F2 associated disorders | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | NR2F2 associated disorders | |
| | | Single nucleotide variant (intron variant +1 more) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (intron variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (synonymous variant) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (synonymous variant) | NR2F2-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Congenital heart defects, multiple types, 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital heart defects, multiple types, 4 | |
| | | Duplication (frameshift variant) | Congenital heart defects, multiple types, 4 | |
| | | Deletion (frameshift variant) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (nonsense) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (missense variant) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (missense variant) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (missense variant) | Congenital heart defects, multiple types, 4 | |
| | | Deletion (frameshift variant) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (synonymous variant) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (missense variant) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (missense variant) | 46,XY disorder of sex development | |
| | | Single nucleotide variant (nonsense) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (synonymous variant) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (synonymous variant) | Congenital heart defects, multiple types, 4 | |
| | | Single nucleotide variant (synonymous variant) | Congenital heart defects, multiple types, 4 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |