C0878544[trait identifier] AND "Human Genetics Bochum, Ruhr University - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 487631	NM_001276345.2(TNNT2):c.3G>A (p.Met1Ile)	TNNT2 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 180493	NM_001035.3(RYR2):c.3271G>A (p.Glu1091Lys)	RYR2 (E1091K)	Single nucleotide variant (missense variant)	Cardiomyopathy +3 more	GUncertain significance
Select item 519482	NM_033337.3(CAV3):c.337G>A (p.Glu113Lys)	CAV3, OXTR (E113K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1801708	NM_001458.5(FLNC):c.6023dup (p.Glu2009fs)	FLNC, FLNC-AS1 (E1976fs +1 more)	Duplication (frameshift variant)	Cardiomyopathy	GLikely pathogenic
Select item 840155	NM_001458.5(FLNC):c.6451G>A (p.Gly2151Ser)	FLNC, FLNC-AS1 (G2118S +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +5 more	GConflicting classifications of pathogenicity
Select item 42735	NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter)	MYBPC3 (Q1233*)	Single nucleotide variant (nonsense)	not provided +8 more	GPathogenic/Likely pathogenic
Select item 577848	NM_001943.5(DSG2):c.1489C>A (p.Pro497Thr)	DSG2 (P497T)	Single nucleotide variant (missense variant)	Cardiomyopathy +2 more	GUncertain significance

ClinVar