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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 691817	NM_022114.4(PRDM16):c.1110C>A (p.Asp370Glu)	PRDM16 (D370E)	Single nucleotide variant (missense variant)	Left ventricular noncompaction cardiomyopathy	GUncertain significance
Select item 60725	NM_022114.4(PRDM16):c.1573dup (p.Arg525fs)	PRDM16	Duplication (frameshift variant)	Left ventricular noncompaction cardiomyopathy +1 more	GPathogenic
Select item 1675068	NM_022114.4(PRDM16):c.1627C>T (p.Gln543Ter)	PRDM16 (Q543*)	Single nucleotide variant (nonsense)	Left ventricular noncompaction cardiomyopathy	GPathogenic
Select item 60724	NM_022114.4(PRDM16):c.2104A>T (p.Lys702Ter)	PRDM16 (K702*)	Single nucleotide variant (nonsense)	Left ventricular noncompaction cardiomyopathy	GPathogenic
Select item 474419	NM_022114.4(PRDM16):c.2296G>A (p.Gly766Ser)	PRDM16 (G766S)	Single nucleotide variant (missense variant)	Primary familial hypertrophic cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 691814	NM_022114.4(PRDM16):c.2372G>A (p.Gly791Asp)	PRDM16 (G791D)	Single nucleotide variant (missense variant)	Familial restrictive cardiomyopathy	GUncertain significance
Select item 60726	NM_022114.4(PRDM16):c.2447A>G (p.Asn816Ser)	PRDM16 (N816S)	Single nucleotide variant (missense variant)	Left ventricular noncompaction 8 +1 more	GUncertain significance

ClinVar