C4310749[trait identifier] AND "deCODE genetics, Amgen"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2574075	NM_001458.5(FLNC):c.711del (p.Glu238fs)	FLNC (E238fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GPathogenic
Select item 2574070	NM_001458.5(FLNC):c.1714C>T (p.Gln572Ter)	FLNC (Q572*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 26	GLikely pathogenic
Select item 2574071	NM_001458.5(FLNC):c.3636C>G (p.Tyr1212Ter)	FLNC (Y1212*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 26	GLikely pathogenic
Select item 2574072	NM_001458.5(FLNC):c.3790+1G>C	FLNC	Single nucleotide variant (splice donor variant)	Hypertrophic cardiomyopathy 26	GLikely pathogenic
Select item 620373	NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter)	FLNC (R1341*)	Single nucleotide variant (nonsense)	FLNC-related disorder +7 more	GPathogenic/Likely pathogenic
Select item 2574073	NM_001458.5(FLNC):c.4172C>A (p.Ser1391Ter)	FLNC (S1391*)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 26	GLikely pathogenic
Select item 2574074	NM_001458.5(FLNC):c.4875del (p.Phe1626fs)	FLNC (F1626fs)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 26	GPathogenic

ClinVar