C0349788[trait identifier] AND "Klaassen Lab, Charite University Medic - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 165158	NM_000335.5(SCN5A):c.998+5G>A	SCN5A	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 177973	NM_001105206.3(LAMA4):c.1959T>C (p.Asp653=)	LAMA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1JJ +4 more	GConflicting classifications of pathogenicity
Select item 691822	NM_001005242.3(PKP2):c.1584del (p.Arg529fs)	PKP2 (R529fs +1 more)	Deletion (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely pathogenic
Select item 691835	NM_001005242.3(PKP2):c.1404T>A (p.Asn468Lys)	PKP2 (N468K +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +4 more	GUncertain significance
Select item 241471	NM_024422.6(DSC2):c.1034T>C (p.Ile345Thr)	DSC2 (I345T)	Single nucleotide variant (missense variant)	Cardiomyopathy +5 more	GUncertain significance
Select item 691842	NM_001943.5(DSG2):c.1017del (p.Glu339_Val340insTer)	DSG2	Deletion (frameshift variant)	Arrhythmogenic right ventricular cardiomyopathy	GLikely pathogenic

ClinVar