"Baylor Genetics"[submitter] AND "FLNC"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441637	NM_001458.5(FLNC):c.46dup (p.Asp16fs)	FLNC (D16fs)	Duplication (frameshift variant)	Hypertrophic cardiomyopathy 26 +2 more	GLikely pathogenic
Select item 2158004	NM_001458.5(FLNC):c.49G>A (p.Glu17Lys)	FLNC (E17K)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 568850	NM_001458.5(FLNC):c.479C>T (p.Thr160Met)	FLNC (T160M)	Single nucleotide variant (missense variant)	Distal myopathy with posterior leg and anterior hand involvement +5 more	GUncertain significance
Select item 2582564	NM_001458.5(FLNC):c.2212C>A (p.His738Asn)	FLNC (H738N)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 26 +2 more	GUncertain significance
Select item 1030458	NM_001458.5(FLNC):c.3076G>A (p.Val1026Met)	FLNC (V1026M)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 420146	NM_001458.5(FLNC):c.3791-1G>C	FLNC	Single nucleotide variant (splice acceptor variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 1073366	NM_001458.5(FLNC):c.4946del (p.Gly1649fs)	FLNC (G1649fs)	Deletion (frameshift variant)	Cardiovascular phenotype +4 more	GPathogenic
Select item 472119	NM_001458.5(FLNC):c.5996G>A (p.Arg1999Gln)	FLNC, FLNC-AS1 (R1999Q +1 more)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 5 +4 more	GUncertain significance
Select item 840829	NM_001458.5(FLNC):c.6041T>C (p.Val2014Ala)	FLNC, FLNC-AS1 (V2014A +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 1030459	NM_001458.5(FLNC):c.6589C>T (p.Arg2197Trp)	FLNC, FLNC-AS1 (R2197W +1 more)	Single nucleotide variant (missense variant)	Dilated Cardiomyopathy, Dominant +3 more	GUncertain significance
Select item 1710099	NM_001458.5(FLNC):c.7581del (p.Ile2527fs)	FLNC, FLNC-AS1 (I2494fs +1 more)	Deletion (frameshift variant)	Primary familial dilated cardiomyopathy +3 more	GLikely pathogenic
Select item 2582574	NM_001458.5(FLNC):c.7780+1G>T	FLNC, FLNC-AS1	Single nucleotide variant (splice donor variant)	Myofibrillar myopathy 5 +3 more	GConflicting classifications of pathogenicity
Select item 2441651	NM_001458.5(FLNC):c.7925del (p.Gly2642fs)	FLNC, FLNC-AS1 (G2609fs +1 more)	Deletion (frameshift variant)	Hypertrophic cardiomyopathy 26 +2 more	GLikely pathogenic
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic