| ID | Type | Gene/Location | Detail | CHD Type |
|---|---|---|---|---|
| V0278 | Small Variation | NKX2-5 | NM_004387.4:c.63A>G | isolated CHD: HLHS |
| V0279 | Small Variation | NKX2-5 | NM_004387.4:c.*61G>T | isolated CHD: HLHS |
| V0280 | Small Variation | GATA4 | NM_002052.5:c.997+56C>A | isolated CHD: HLHS |
| V0281 | Small Variation | GATA4 | NM_002052.5:c.997+321G>A | isolated CHD: HLHS |
| V0282 | Small Variation | HAND1 | NM_004821.3:c.468T>G | isolated CHD: HLHS |
| V0283 | Small Variation | GATA4 | NM_002052.5:c.1129A>G | isolated CHD: HLHS |
| V0284 | Small Variation | HAND1 | NM_004821.3:c.162G>A | isolated CHD: HLHS |
| V0285 | Small Variation | HAND1 | NM_004821.3:c.531G>C | isolated CHD: HLHS |
| V0286 | Small Variation | GATA4 | NM_002052.5:c.1113A>G | isolated CHD: HLHS |
| V0287 | Small Variation | GATA4 | NM_002052.5:c.909+25G>A | isolated CHD: HLHS |
| V0288 | Small Variation | HAND1 | NM_004821.3:c.543+30A>T | isolated CHD: HLHS |
| V0866 | Small Variation | Increased homozygosity | NA | isolated CHD: HLHS |
| V1755 | Small Variation | FOXL1 | NM_005250.3:c.926A>G | isolated CHD: HLHS |
| C0232 | CNV | NA | NA | isolated CHD: HLHS |
| C0233 | CNV | NA | NA | isolated CHD: HLHS |
| C0234 | CNV | NA | NA | isolated CHD: HLHS |
| C0235 | CNV | NA | NA | isolated CHD: HLHS |
| C0236 | CNV | NA | NA | isolated CHD: HLHS |
| C0237 | CNV | NA | NA | isolated CHD: HLHS |