Table 1. Known PLN variants associated with cardiomyopathy.

Variant	Disease	No. of probands carrying variant	Frequency in control chromosomes	Definitely Pathogenic	References
c.25C > T (p.R9C)	DCM	2	0/200; 0/400	Yes	6,18
c.26G > T (p.R9L)	DCM	1	0/1000	Unknown	23,24,35,36
c.26G > A (p.R9H)	DCM	1	0/1000	Unknown	24,36
c.40_42delAGA (p.R14del)	DCM, ARVC	39 DCM, 13 ARVC10; 1 DCM8; 1 DCM25; 101 DCM and ARVC13; 1 DCM26; 1 DCM24; 1 ARVC21	1/94610; 0/13168;0/20025;6/1643413; 0/100024	Yes	8,10,13,21,24, 25, 26,37
c.73C > T (p.R25C)	DCM	1	NA	Unknown	27
c.116T > G (p.L39X)	DCM, HCM	2 DCM7; 1 HCM28; 1 HCM9	0/5007; 0/60028; 0/2009	Yes (DCM) and Unknown (HCM)	7,9,28
c.1-77A > G	HCM	1	0/592	Unknown	29
c.1-42C > G	HCM	1	0/100	Unknown	30