TMEM43[gene] AND (clinsig_pathogenic[prop] OR clinsig_likely_pathogeni - ClinVar

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 408701.	NM_024334.3(TMEM43):c.253G>A (p.Glu85Lys) GRCh37: Chr3:14172412 GRCh38: Chr3:14130912	TMEM43		Emery-Dreifuss muscular dystrophy 7, autosomal dominant	Pathogenic (Jun 1, 2011)	no assertion criteria provided
Select item 17019172.	NM_024334.3(TMEM43):c.393-2A>G GRCh37: Chr3:14174044 GRCh38: Chr3:14132544	TMEM43		Arrhythmogenic right ventricular dysplasia 5	Likely pathogenic (Feb 1, 2013)	criteria provided, single submitter
Select item 7343.	NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) GRCh37: Chr3:14183165 GRCh38: Chr3:14141665	TMEM43	S358L	Cardiovascular phenotype, Familial isolated arrhythmogenic right ventricular dysplasia, not provided, Cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy, Primary dilated cardiomyopathy, Arrhythmogenic right ventricular dysplasia 5	Pathogenic (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts

ClinVar