"Klaassen Lab, Charite University Medicine Berlin"[submitter] AND "PKP - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 970859	NM_001005242.3(PKP2):c.2261_2269del (p.Thr754_Asn756del)	PKP2	Deletion (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 179097	NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val)	PKP2 (I789V +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9 +5 more	GConflicting classifications of pathogenicity
Select item 464422	NM_001005242.3(PKP2):c.2068A>G (p.Thr690Ala)	PKP2 (T734A +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 1338737	NM_001005242.3(PKP2):c.1068_1069dup (p.Val357fs)	PKP2 (V357fs)	Duplication (frameshift variant)	Left ventricular noncompaction cardiomyopathy	GLikely pathogenic

ClinVar