| ID | Type | Gene/Location | Detail | CHD Type |
|---|---|---|---|---|
| V0364 | Small Variation | GATA5 | NM_080473.5:c.8A>G | isolated CHD: BAV |
| V0365 | Small Variation | GATA5 | NM_080473.5:c.56C>G | isolated CHD: BAV |
| V0366 | Small Variation | GATA5 | NM_080473.5:c.199A>C | isolated CHD: BAV |
| V0367 | Small Variation | GATA5 | NM_080473.5:c424T>C | isolated CHD: BAV |
| V0368 | Small Variation | GATA5 | NM_080473.5:c.496G>A | isolated CHD: BAV |
| V0369 | Small Variation | GATA5 | NM_080473.5:c.609C>T | isolated CHD: BAV |
| V0370 | Small Variation | GATA5 | NC_000020.11:g.62475569G>A | isolated CHD: BAV |
| V0371 | Small Variation | GATA5 | NM_080473.5:c.852G>A | isolated CHD: BAV |
| V0372 | Small Variation | GATA5 | NC_000020.11:g.62466597G>C | isolated CHD: BAV |
| V0373 | Small Variation | GATA5 | NM_080473.5:c.981G>C | isolated CHD: BAV |
| V0374 | Small Variation | GATA5 | NM_080473.5:c.1128A>G | isolated CHD: BAV |
| V0667 | Small Variation | FBN1 | NM_000138.4:c.1586G>A | isolated CHD: BAV |
| V0668 | Small Variation | FBN1 | NM_000138.4:c.1906A>G | isolated CHD: BAV |
| V0669 | Small Variation | FBN1 | NM_000138.4:c.8176C>T | isolated CHD: BAV |
| V0722 | Small Variation | GATA5 | NM_080473.5:c.46T>G | isolated CHD: BAV |
| V0723 | Small Variation | GATA5 | NM_080473.5:c.754A>C | isolated CHD: BAV |
| V0835 | Small Variation | APC | NM_000038.6:c.7862C>G | isolated CHD: BAV |
| V0836 | Small Variation | MCTP2 | NM_018349.3:c.2539C>T | isolated CHD: BAV |
| V0837 | Small Variation | MSX1 | NM_002448.3:c.581A>G | isolated CHD: BAV |
| V0838 | Small Variation | NFATC1 | NM_006162.5:c.230C>T | isolated CHD: BAV |
| V0839 | Small Variation | NFATC1 | NM_006162.5:c.628G>A | isolated CHD: BAV |
| V0840 | Small Variation | NOS1 | NM_000620.5:c.1975G>A | isolated CHD: BAV |
| V0841 | Small Variation | NOTCH1 | NM_017617.5:c.6481C>T | isolated CHD: BAV |
| V0842 | Small Variation | NOTCH2 | NM_024408.4:c.6363G>C | isolated CHD: BAV |
| V0843 | Small Variation | NOTCH3 | NM_000435.3:c.509A>G | isolated CHD: BAV |
| V0844 | Small Variation | PAX6 | NM_000280.4:c.1225G>A | isolated CHD: BAV |
| V0845 | Small Variation | PIGF | NM_002643.4:c.370A>G | isolated CHD: BAV |
| V0846 | Small Variation | AXIN1 | NM_003502.4:c.2522G>A | isolated CHD: BAV |
| V0847 | Small Variation | PPP3CA | NM_000944.5:c.334C>T | isolated CHD: BAV |
| V0848 | Small Variation | PTCH1 | NM_000264.5:c.3487G>A | isolated CHD: BAV |
| V0849 | Small Variation | PTCH2 | NM_003738.5:c.3139C>T | isolated CHD: BAV |
| V0850 | Small Variation | SLC35B2 | NM_178148.4:c.1105A>G | isolated CHD: BAV |
| V0851 | Small Variation | SNAI3 | NM_178310.4:c.488C>T | isolated CHD: BAV |
| V0852 | Small Variation | SOX9 | NM_000346.4:c.817G>C | isolated CHD: BAV |
| V0853 | Small Variation | TBX5 | NM_000192.3:c.1115C>T | isolated CHD: BAV |
| V0854 | Small Variation | TBX5 | NM_000192.3:c.787G>A | isolated CHD: BAV |
| V0855 | Small Variation | VEGFB | NM_003377.5:c.286C>G | isolated CHD: BAV |
| V0856 | Small Variation | VEGFC | NM_005429.5:c.140A>T | isolated CHD: BAV |
| V0857 | Small Variation | AXIN2 | NM_004655.4:c.2051C>T | isolated CHD: BAV |
| V0858 | Small Variation | WNT4 | NM_030761.5:c.129C>A | isolated CHD: BAV |
| V0859 | Small Variation | ZNF236 | NM_007345.3:c.4628C>T | isolated CHD: BAV |
| V0860 | Small Variation | FLT1 | NM_002019.4:c.3092C>G | isolated CHD: BAV |
| V0861 | Small Variation | GATA4 | NM_001308093.1:c.1310G>C | isolated CHD: BAV |
| V0862 | Small Variation | GATA5 | NM_080473.5:c.698T>C | isolated CHD: BAV |
| V0863 | Small Variation | GLI1 | NM_005269.3:c.3142G>A | isolated CHD: BAV |
| V0864 | Small Variation | JAG1 | NM_000214.3:c.2810G>A | isolated CHD: BAV |
| V0865 | Small Variation | MCTP2 | NM_018349.3:c.1634C>T | isolated CHD: BAV |
| V1127 | Small Variation | NOTCH1 | NM_017617.5:c.3511-2A>G | isolated CHD: BAV |
| V1131 | Small Variation | NOTCH1 | NM_017617.5:c.865+2C>A | isolated CHD: BAV |
| V1132 | Small Variation | NOTCH1 | NM_017617.5:c.865+2C>A | isolated CHD: BAV |
| V2333 | Small Variation | GATA4 | NM_002052.5:c.1309G>A | isolated CHD: BAV |
| V2334 | Small Variation | chr5, chr7 | NA | isolated CHD: BAV |