ClinVar for MedGen (Select 1801983) - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25000551.	NM_207163.3(LMOD2):c.355_356insGAG (p.Thr118_Glu119insGly) GRCh37: Chr7:123301993-123301994 GRCh38: Chr7:123661939-123661940	LMOD2		Cardiomyopathy, dilated, 2G	Uncertain significance (Mar 30, 2021)	criteria provided, single submitter
Select item 16870962.	NM_207163.3(LMOD2):c.1537C>T (p.Arg513Ter) GRCh37: Chr7:123303177 GRCh38: Chr7:123663123	LMOD2		Cardiomyopathy, dilated, 2G	Pathogenic (May 26, 2022)	no assertion criteria provided
Select item 16870953.	NM_207163.3(LMOD2):c.1243_1244del (p.Leu415fs) GRCh37: Chr7:123302881-123302882 GRCh38: Chr7:123662827-123662828	LMOD2	L415fs	Cardiomyopathy, dilated, 2G	Pathogenic (May 26, 2022)	no assertion criteria provided
Select item 16870944.	NM_207163.3(LMOD2):c.1193G>A (p.Trp398Ter) GRCh37: Chr7:123302833 GRCh38: Chr7:123662779	LMOD2		Cardiomyopathy, dilated, 2G	Pathogenic (May 26, 2022)	no assertion criteria provided
Select item 13285205.	NM_207163.3(LMOD2):c.273+1G>A GRCh37: Chr7:123296291 GRCh38: Chr7:123656237	LMOD2		Cardiomyopathy, dilated, 2G, Familial isolated dilated cardiomyopathy	Pathogenic (May 26, 2022)	no assertion criteria provided

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