Table 2 CNVs detected in 48 established cardiac disease genes.

From: Characterization of clinically relevant copy-number variants from exomes of patients with inherited heart disease and unexplained sudden cardiac death

Patient ID

Diagnosis

CNV class

Predicted CNV interval (hg19)

CNV length (kb)

Quality score

Most clinically relevant gene

CMD1

HCM

Deletion

chr11:47345261-47359431

14.2

93

MYBPC3

NSW76A

SUD

Deletion

chr7:149981783-150777008

795.2

93

KCNH2

CBD1

DCM

Deletion

chr2:179417075-179501545

84.5

99

TTN

CIJ3

DCM

Deletion

chr10:68280379-68535287

254.9

92

CTNNA3

AHM1

LVNC

Deletion

chr1:236882093-236897871

15.8

76

ACTN2

AYQ1

HCM

Duplication

chr14:23859337-23889071

29.7

95

MYH7

CBT1

LVNC

Duplication

chr10:112540513-112595730

55.2

92

RBM20a

BLX1

LQTS

Duplication

chr6:118832413-118953777

121.4

94

PLN

  1. CNV copy-number variant, DCM dilated cardiomyopathy, HCM hypertrophic cardiomyopathy, LQTS long QT syndrome, LVNC left ventricular noncompaction, SUD unexplained sudden cardiac death.
  2. aPatient has a pathogenic de novo deletion in NKX2-5.
Back to article page