NM_001458.5(FLNC):c.5754T>A (p.Tyr1918Ter)Pathogenic
not provided|Hypertrophic cardiomyopathy 26|Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26;not provided;Myofibrillar myopathy 5
β
β
ββ2026β Residue 1918
NM_001458.5(FLNC):c.8130G>A (p.Trp2710Ter)Pathogenic
Myofibrillar myopathy 5|not provided|Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;not provided;Distal myopathy with posterior leg and anterior hand involvement
β
β
ββ2026β Residue 2710
NM_001458.5(FLNC):c.2971C>T (p.Arg991Ter)Pathogenic
Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement|Hypertrophic cardiomyopathy 26|Primary dilated cardiomyopathy|Cardiovascular phenotype|Arrhythmogenic right ventricular cardiomyopathy|Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement;not provided
β
β
ββ2026β Residue 991
NM_001458.5(FLNC):c.2119C>T (p.Gln707Ter)Pathogenic
not provided|Cardiovascular phenotype|Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement;not provided;Hypertrophic cardiomyopathy 26
β
β
ββ2026β Residue 707
NM_001458.5(FLNC):c.5199+1G>TPathogenic
Cardiovascular phenotype|not provided|not provided;Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26
β
β
ββ2026
NM_001458.5(FLNC):c.6822C>G (p.Tyr2274Ter)Pathogenic
Cardiovascular phenotype|Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26;not provided;Myofibrillar myopathy 5
β
β
ββ2026β Residue 2274
NM_001458.5(FLNC):c.8076C>A (p.Tyr2692Ter)Pathogenic
not provided|not provided;Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement
β
β
ββ2026β Residue 2692
NM_001458.5(FLNC):c.7536_7548del (p.Pro2513fs)Pathogenic
Cardiovascular phenotype|not provided|Distal myopathy with posterior leg and anterior hand involvement;not provided;Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26
β
β
ββ2026β Residue 2513
NM_001458.5(FLNC):c.3791-1G>CPathogenic
not provided|Hypertrophic cardiomyopathy 26|Cardiovascular phenotype|FLNC-related disorder|Primary dilated cardiomyopathy|Myofibrillar myopathy 5;not provided;Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26
β
β
ββ2026
NM_001458.5(FLNC):c.1092dup (p.Glu365Ter)Pathogenic
Cardiovascular phenotype|Hypertrophic cardiomyopathy 26;not provided;Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement
β
β
ββ2026β Residue 365
NM_001458.5(FLNC):c.4192A>T (p.Lys1398Ter)Pathogenic
Cardiovascular phenotype|not provided;Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement|not provided|FLNC-related disorder
β
β
ββ2026β Residue 1398
NM_001458.5(FLNC):c.7581del (p.Ile2527fs)Pathogenic
Hypertrophic cardiomyopathy 26|Myofibrillar myopathy 5|Distal myopathy with posterior leg and anterior hand involvement|Primary familial dilated cardiomyopathy|Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement;not provided;Hypertrophic cardiomyopathy 26
β
β
ββ2026β Residue 2527
NM_001458.5(FLNC):c.4926_4927insACGTCACA (p.Val1643fs)Pathogenic
Cardiovascular phenotype|Primary dilated cardiomyopathy|not provided|not provided;Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5
β
β
ββ2025β Residue 1643
NM_001458.5(FLNC):c.2160del (p.Asn721fs)Pathogenic
Cardiovascular phenotype|not provided;Myofibrillar myopathy 5;Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26
β
β
ββ2025β Residue 721
NM_001458.5(FLNC):c.671del (p.Gln224fs)Pathogenic
Cardiovascular phenotype|Myofibrillar myopathy 5;not provided;Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26
β
β
ββ2025β Residue 224
NM_001458.5(FLNC):c.6009del (p.Ser2004fs)Pathogenic
Cardiovascular phenotype|Myofibrillar myopathy 5;not provided;Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement
β
β
ββ2025β Residue 2004
NM_001458.5(FLNC):c.5520T>G (p.Tyr1840Ter)Pathogenic
Cardiovascular phenotype|not provided;Distal myopathy with posterior leg and anterior hand involvement;Hypertrophic cardiomyopathy 26;Myofibrillar myopathy 5
β
β
ββ2025β Residue 1840
NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter)Pathogenic
not provided|Hypertrophic cardiomyopathy 26|Cardiovascular phenotype|Primary familial dilated cardiomyopathy|Primary dilated cardiomyopathy|FLNC-related disorder|Myofibrillar myopathy 5;not provided;Hypertrophic cardiomyopathy 26;Distal myopathy with posterior leg and anterior hand involvement
β
β
ββ2025β Residue 1341
NM_001458.5(FLNC):c.4952-2A>TLikely pathogenic
Cardiovascular phenotype|not provided|Distal myopathy with posterior leg and anterior hand involvement;Myofibrillar myopathy 5;not provided;Hypertrophic cardiomyopathy 26
β
β
ββ2025
NM_001458.5(FLNC):c.7414G>T (p.Glu2472Ter)Pathogenic
Cardiomyopathy|Myofibrillar myopathy 5;Hypertrophic cardiomyopathy 26;not provided;Distal myopathy with posterior leg and anterior hand involvement
β
β
ββ2025β Residue 2472