Table 2.
CNV detection rate per gene and predicted outcomes.
| A. Genes with CNVs identified in cardiomyopathy patients | |||||
|---|---|---|---|---|---|
| Gene | Number of patients tested | Number of patients with clinically significant CNVs | CNV type | Predicted outcome of CNV | Known disease mechanism of variants in gene for cardiomyopathy |
| EMD | 904 | 1 | Whole gene dup | Unknown | LOF |
| GLA | 1252 | 1 | Whole gene dup | Unknown | LOF |
| LAMP2 | 1361 | 2 | Whole gene dup, Intragenic del | Unknown, LOF | LOF |
| LMNA | 922 | 1 | Intragenic del | LOF | LOF |
| MYBPC3 | 1379 | 1 | Intragenic del | LOF | LOF |
| MYOZ2 | 1252 | 1 | Intragenic dup | LOF | Unknown |
| NEXN | 1361 | 1 | Whole gene dup | Unknown | Unknown |
| PKP2 | 841 | 2 | Whole gene dup, Intragenic del | LOF, LOF | LOF |
| TAZ | 922 | 1 | Whole gene dup | Unknown | LOF |
| TTN | 904 | 1 | Intragenic dup | LOF | LOF |
| B. Genes with no CNVs identified in cardiomyopathy patients | |||
|---|---|---|---|
| Gene | Number of patients tested | Gene | Number of patients tested |
| ABCC9 | 904 | MYH6 | 795 |
| ACTC1 | 1379 | MYH7 | 1379 |
| ACTN2 | 1361 | MYL2 | 1252 |
| ANKRD1 | 795 | MYL3 | 1252 |
| CASQ2 | 859 | MYLK2 | 795 |
| CAV3 | 795 | PLN | 1361 |
| CRYAB | 795 | PRKAG2 | 1252 |
| CSRP3 | 1361 | RBM20 | 904 |
| CTF1 | 904 | RYR2 | 841 |
| DES | 904 | SGCD | 904 |
| DSC2 | 841 | TCAP | 904 |
| DSG2 | 841 | TMEM43 | 841 |
| DSP | 841 | TNNC1 | 1361 |
| DTNA | 813 | TNNI3 | 1361 |
| FHL2 | 795 | TNNT2 | 1379 |
| JUP | 841 | TPM1 | 1361 |
| LAMA4 | 795 | TTR | 1252 |
| LDB3 | 922 | VCL | 922 |
dup, duplication; del, deletion; LOF, loss of function; GOF, gain of function.