C0349788[trait identifier] AND "Molecular Genetics, Royal Melbourne Ho - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 16826	NM_001927.4(DES):c.1216C>T (p.Arg406Trp)	DES (R406W)	Single nucleotide variant (missense variant)	Desmin-related myofibrillar myopathy +3 more	GPathogenic/Likely pathogenic
Select item 44906	NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)	DSP (R1458G)	Single nucleotide variant (missense variant +1 more)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 45047	NM_001005242.3(PKP2):c.1689dup (p.Val564fs)	PKP2 (V608fs +1 more)	Duplication (frameshift variant)	Familial isolated arrhythmogenic right ventricular dysplasia +5 more	GPathogenic/Likely pathogenic
Select item 45028	NM_001005242.3(PKP2):c.148_151del (p.Thr50fs)	PKP2 (T50fs)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 9 +5 more	GPathogenic
Select item 691732	NM_002471.4(MYH6):c.3979-2A>C	MYH6	Single nucleotide variant (splice acceptor variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 46186	NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs)	DSC2 (A897fs)	Duplication (3 prime UTR variant +1 more)	Arrhythmogenic right ventricular dysplasia 11 +6 more	GBenign/Likely benign

ClinVar