"3billion"[submitter] AND "FLNC"[gene] - ClinVar - NCBI

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Items: 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444230	NM_001458.5(FLNC):c.3343_3344insT (p.Gly1115fs)	FLNC (G1115fs)	Insertion (frameshift variant)	Hypertrophic cardiomyopathy 26	GLikely pathogenic
Select item 1705399	NM_001458.5(FLNC):c.3456_3457del (p.Val1152_Phe1153insTer)	FLNC	Microsatellite (frameshift 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

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