FLNC — 6114 ClinVar variants

All ClinVar germline FLNC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1618 flagged for review →

374 Pathogenic · 50 Pathogenic/Likely pathogenic · 194 Likely pathogenic · 530 Conflicting · 119 Benign · 161 Benign/Likely benign · 1948 Likely benign · 2738 Uncertain significance

Full FLNC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1618

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

FLNC p.Val2328Met Pathogenic Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.His2315Asn Pathogenic No assertion criteria
hypertrophic cardiomyopathy 26

Predictors agree, ClinVar conflicts 157

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification. · showing the 150 best-reviewed of 157

FLNC p.Ala1021Val Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Ala1208Val Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Ala1334Thr Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Ala1551Thr Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Ala1755Gly Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Ala1755Thr Conflicting Single submitter
hypertrophic cardiomyopathy 26
FLNC p.Ala1761Thr Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Ala2220Val Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Ala2273Thr Conflicting Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Ala2289Thr Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Ala2537Thr Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Ala443Val Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Ala479Thr Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Ala614Thr Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Ala867Val Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Arg1002Gln Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Arg1150Gly Conflicting Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Arg1267Trp Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Arg1291His Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Arg1352Ser Conflicting Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Arg1370Gln Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Arg1426Gln Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Arg1460Gln Conflicting Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Arg1526Cys Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Arg1657Gln Conflicting Single submitter
cardiomyopathy
FLNC p.Arg1758Gln Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Arg1762Cys Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Arg1762His Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Arg1803Gln Conflicting Single submitter
dilated cardiomyopathy
FLNC p.Arg1811Gln Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Arg183His Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Arg1860His Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Arg1982Cys Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Arg2018Cys Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Arg2018His Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Arg2140Trp Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Arg2141Gln Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Arg2293His Conflicting Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Arg2340Trp Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Arg2495Gly Conflicting Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Arg2621Gln Conflicting Single submitter
hypertrophic cardiomyopathy 26
FLNC p.Arg361Cys Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Arg420Gln Conflicting Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Arg421Gln Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Arg461Leu Conflicting Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Arg490His Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Arg558Leu Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Arg695Pro Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Arg69Trp Conflicting Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Arg840His Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Arg916Gln Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Asn212Ser Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Asn393His Conflicting Single submitter
hypertrophic cardiomyopathy 26
FLNC p.Asn721Lys Conflicting Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Asn989Lys Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Asp16Gly Conflicting Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Asp2394His Conflicting Single submitter
familial hypertrophic cardiomyopathy
FLNC p.Asp27Glu Conflicting Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Asp723Asn Conflicting Single submitter
hypertrophic cardiomyopathy 26
FLNC p.Asp925Val Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Cys2088Arg Conflicting Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Glu1104Lys Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Glu1571Lys Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Glu1741Lys Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Glu1742Lys Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Glu1776Asp Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Glu534Lys Conflicting Single submitter
hypertrophic cardiomyopathy 26
FLNC p.Glu617Lys Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Glu760Lys Conflicting Single submitter
hypertrophic cardiomyopathy 26
FLNC p.Gly11Ser Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Gly1284Asp Conflicting Single submitter
hypertrophic cardiomyopathy 26
FLNC p.Gly1357Arg Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Gly1444Ala Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Gly1546Ser Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Gly1700Ser Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Gly1760Ser Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Gly2011Arg Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Gly2039Arg Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Gly2094Arg Conflicting Single submitter
hypertrophic cardiomyopathy 26
FLNC p.Gly2235Ser Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Gly2320Arg Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Gly389Asp Conflicting Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Gly507Arg Conflicting Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Gly6Asp Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Gly761Ser Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Gly771Ser Conflicting Single submitter
hypertrophic cardiomyopathy 26
FLNC p.Gly898Ser Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Ile134Val Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Ile1387Phe Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Ile1554Leu Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Ile1660Thr Conflicting Single submitter
hypertrophic cardiomyopathy 26
FLNC p.Ile1704Thr Conflicting Single submitter
hypertrophic cardiomyopathy 26
FLNC p.Ile1882Val Conflicting Single submitter
cardiomyopathy
FLNC p.Ile2487Val Conflicting Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Ile692Thr Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Ile817Thr Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Leu12Phe Conflicting Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Leu1364Phe Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Leu2404Val Conflicting Single submitter
hypertrophic cardiomyopathy 26
FLNC p.Lys2260Arg Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Lys502Met Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Met21Val Conflicting Single submitter
hypertrophic cardiomyopathy 26
FLNC p.Phe106Leu Conflicting Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Phe1340Ile Conflicting Single submitter
hypertrophic cardiomyopathy 26
FLNC p.Phe690Leu Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Pro1102Ser Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Pro1432Leu Conflicting Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Pro1604Leu Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Pro1726Ser Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Pro1739Gln Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Pro1739Leu Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Pro1753Thr Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Pro1763Thr Conflicting Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Pro1920Leu Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Pro2285Thr Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Pro2298His Conflicting Single submitter
hypertrophic cardiomyopathy 26
FLNC p.Pro2298Leu Conflicting Single submitter
restrictive cardiomyopathy
FLNC p.Pro237Leu Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Pro539Leu Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Ser1194Leu Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Ser1391Leu Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Ser1607Gly Conflicting Single submitter
hypertrophic cardiomyopathy 26
FLNC p.Ser1637Arg Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Ser1972Asn Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Ser469Leu Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Ser589Leu Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Ser5Arg Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Thr1041Ser Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Thr1087Ser Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Thr1289Lys Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Thr1963Met Conflicting Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Thr402Ile Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Thr739Ile Conflicting Single submitter
hypertrophic cardiomyopathy 26
FLNC p.Tyr1505His Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Tyr1926Cys Conflicting Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Tyr2563His Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Tyr340Cys Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Val1244Met Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Val1323Leu Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Val1435Met Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Val1732Met Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Val1793Met Conflicting Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Val1896Met Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Val1916Met Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Val2014Met Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Val2064Met Conflicting Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Val2267Ile Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Val2331Leu Conflicting Single submitter
hypertrophic cardiomyopathy 26
FLNC p.Val2439Met Conflicting Single submitter
hypertrophic cardiomyopathy 26
FLNC p.Val2480Ala Conflicting Single submitter
hypertrophic cardiomyopathy 26

Predicted LoF vs a conflicting call 10

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

FLNC c.1412-1G>A Conflicting Single submitter
hypertrophic cardiomyopathy 26
FLNC c.1548_1549+2del Conflicting Single submitter
dilated cardiomyopathy
FLNC c.1813+2T>C Conflicting Single submitter
Cardiovascular phenotype
FLNC c.2265+1G>A Conflicting Single submitter
myofibrillar myopathy 5
FLNC c.3193-2A>G Conflicting Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC c.4951+2T>C Conflicting Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC c.5843-2A>G Conflicting Single submitter
Cardiovascular phenotype
FLNC c.7780+1G>T Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Leu2645fs Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Tyr2704Ter Conflicting Single submitter
myofibrillar myopathy 5

Predictors lean, ClinVar uncertain 1152

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 1152

FLNC p.Ala1023Pro Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Ala1173Val Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Ala1378Val Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Ala1566Val Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Ala1569Val Uncertain significance Multiple submitters
FLNC p.Ala1708Val Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Ala199Thr Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Ala2041Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 26
FLNC p.Ala2069Thr Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Ala218Thr Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Ala221Thr Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Ala225Ser Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Ala2360Thr Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Ala2450Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 26
FLNC p.Ala266Asp Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Ala305Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Ala305Val Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Ala345Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Ala392Asp Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Ala403Glu Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 26
FLNC p.Ala528Thr Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Ala639Thr Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Ala709Ser Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Ala72Thr Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Ala794Thr Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Ala854Thr Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Ala941Thr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 26
FLNC p.Arg1009Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 26
FLNC p.Arg1027His Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Arg1267Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 26
FLNC p.Arg1352Leu Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Arg1494Gln Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Arg1526His Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Arg1543Pro Uncertain significance Multiple submitters
FLNC p.Arg164Gln Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Arg164Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Arg1751Cys Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Arg1982His Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Arg1999Gln Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Arg219Gln Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Arg2293Cys Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Arg2318Leu Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Arg2553Gln Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Arg2621Pro Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Arg361His Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Arg437Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Arg461His Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Arg482Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Arg490Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Arg490Leu Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Arg575Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Arg575Trp Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Arg62His Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Arg650Gln Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Arg755Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Arg755Trp Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Asn1294Ser Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Asn1369Asp Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Asn1817Lys Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Asn1817Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Asn2570Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 26
FLNC p.Asn2689Ile Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 26
FLNC p.Asn824Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Asn959Ser Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Asp1114Gly Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Asp150Asn Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Asp1736Glu Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Asp1908Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Asp2093Ala Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Asp620Asn Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Asp623Asn Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Asp623Glu Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Asp63Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Asp645Ala Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Asp646His Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Asp66Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Asp701Glu Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Asp715Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Asp820Val Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 26
FLNC p.Asp949His Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Cys1117Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 26
FLNC p.Cys1180Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Cys1180Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Cys1348Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Cys1680Ser Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Cys2088Tyr Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 26
FLNC p.Cys2101Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Cys2369Tyr Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Cys618Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Cys618Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Cys665Tyr Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Gln1024Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Gln288Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Gln38Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Gln905Arg Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Glu1032Asp Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Glu1408Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Glu1663Gly Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Glu17Lys Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Glu1830Gly Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Glu20Ala Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Glu2104Lys Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Glu2605Lys Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Glu2700Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Glu600Lys Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Glu609Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Glu637Asp Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Glu765Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Gly1071Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Gly1075Arg Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Gly1089Arg Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Gly1093Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Gly1184Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Gly1184Val Uncertain significance Multiple submitters
restrictive cardiomyopathy
FLNC p.Gly1210Asp Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Gly1231Asp Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Gly1264Cys Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Gly1310Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Gly1322Asp Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Gly1377Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Gly1381Arg Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Gly1381Trp Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Gly1424Arg Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Gly1452Arg Uncertain significance Multiple submitters
FLNC p.Gly1486Val Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Gly1511Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 26
FLNC p.Gly1570Cys Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Gly15Ser Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Gly15Val Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Gly1676Arg Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Gly1712Ala Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 26
FLNC p.Gly1721Arg Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Gly1721Glu Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Gly1722Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Gly1722Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Gly1924Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Gly2002Val Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Gly201Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Gly2050Glu Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Gly2054Arg Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Gly2070Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Gly2070Asp Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Gly2072Arg Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Gly2080Arg Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 26
FLNC p.Gly2080Asp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 26
FLNC p.Gly2106Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Gly2367Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Gly2474Val Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Gly2521Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Gly2544Ser Uncertain significance Multiple submitters
Cardiovascular phenotype

Predictors split 297

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 297

FLNC p.Ala1200Thr Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Ala1200Val Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Ala1734Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Ala2041Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Ala2442Ser Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Ala2635Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Ala296Val Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Arg1167Cys Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Arg1543Trp Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Arg1609Gly Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Arg2067His Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Arg2228Trp Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Arg2467Gly Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Arg2641Trp Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 26
FLNC p.Asn1727Ser Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Asn180Ser Uncertain significance Multiple submitters
cardiomyopathy
FLNC p.Asn1875Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Asn1998Lys Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Asp1816Asn Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 26
FLNC p.Asp1973Glu Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Asp2093Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Asp2116Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Asp2406Val Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Asp2441Gly Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 26
FLNC p.Asp2551His Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Asp374Asn Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Asp530Val Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Asp903Val Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Gln1463Glu Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Glu1166Lys Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Glu1201Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 26
FLNC p.Glu2458Lys Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Glu286Gln Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 26
FLNC p.Glu315Lys Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Glu678Gly Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Gly1171Ser Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Gly1486Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Gly2330Asp Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Gly2330Ser Benign/Likely benign Multiple submitters
myofibrillar myopathy 5
FLNC p.Gly2435Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Gly2484Ser Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Gly2521Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 26
FLNC p.Gly2534Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 26
FLNC p.Gly2578Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Gly518Ser Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Gly531Ser Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Gly553Ser Benign/Likely benign Multiple submitters
myofibrillar myopathy 5
FLNC p.Gly698Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 26
FLNC p.Gly724Asp Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Gly724Ser Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Gly973Ser Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.His2000Gln Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.His2391Tyr Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.His889Tyr Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Leu2572His Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Lys2316Arg Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Lys2365Arg Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Lys2637Thr Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Phe2649Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Pro1046Ala Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Pro1080Ser Uncertain significance Multiple submitters
Dilated Cardiomyopathy, Dominant
FLNC p.Pro1141Ala Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Pro1163Gln Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Pro1163Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Pro1236Ser Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Pro1427Leu Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Pro1711Leu Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Pro1846Leu Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Pro1938Leu Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Pro2556Leu Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Pro287Leu Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Pro383Ala Benign/Likely benign Multiple submitters
hypertrophic cardiomyopathy 26
FLNC p.Pro635Ser Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Pro660Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Pro950Thr Uncertain significance Multiple submitters
FLNC-related disorder
FLNC p.Thr1124Met Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 26
FLNC p.Thr1225Asn Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Thr1611Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Thr1943Ile Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 26
FLNC p.Thr2056Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Thr2095Ala Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Thr2095Ser Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 26
FLNC p.Thr24Lys Uncertain significance Multiple submitters
hypertrophic cardiomyopathy 26
FLNC p.Thr302Met Uncertain significance Multiple submitters
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Thr396Ala Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Thr880Ile Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Thr990Ile Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Tyr1623Cys Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Tyr281Cys Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Val1265Ile Uncertain significance Multiple submitters
myofibrillar myopathy 5
FLNC p.Val1560Met Uncertain significance Multiple submitters
Dilated Cardiomyopathy, Dominant
FLNC p.Val2297Leu Uncertain significance Multiple submitters
Cardiovascular phenotype
FLNC p.Ala1247Glu Uncertain significance Single submitter
hypertrophic cardiomyopathy 26
FLNC p.Ala1630Thr Uncertain significance Single submitter
myofibrillar myopathy 5
FLNC p.Ala2314Thr Uncertain significance Single submitter
FLNC p.Ala2329Gly Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Ala2427Val Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Ala2430Val Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Ala2436Val Uncertain significance Single submitter
FLNC p.Ala2590Ser Uncertain significance Single submitter
myofibrillar myopathy 5
FLNC p.Ala296Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy 26
FLNC p.Ala296Thr Uncertain significance Single submitter
myofibrillar myopathy 5
FLNC p.Ala29Val Uncertain significance Single submitter
myofibrillar myopathy 5
FLNC p.Ala392Ser Uncertain significance Single submitter
Cardiovascular phenotype
FLNC p.Ala495Gly Uncertain significance Single submitter
myofibrillar myopathy 5
FLNC p.Ala694Val Conflicting Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Arg1008Cys Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Arg1267Gln Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Arg1278Gly Uncertain significance Single submitter
myofibrillar myopathy 5
FLNC p.Arg1278Thr Likely benign Single submitter
myofibrillar myopathy 5
FLNC p.Arg1313Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy 26
FLNC p.Arg1354Leu Uncertain significance Single submitter
myofibrillar myopathy 5
FLNC p.Arg1434Cys Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Arg1434Pro Uncertain significance Single submitter
myofibrillar myopathy 5
FLNC p.Arg1609Trp Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Arg1627Gly Likely benign Single submitter
hypertrophic cardiomyopathy 26
FLNC p.Arg1627His Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Arg1627Leu Uncertain significance Single submitter
myofibrillar myopathy 5
FLNC p.Arg1719His Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Arg2277Cys Conflicting Single submitter
hypertrophic cardiomyopathy 26
FLNC p.Arg2277His Uncertain significance Single submitter
myofibrillar myopathy 5
FLNC p.Arg2318Gln Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Arg2409Cys Likely benign Single submitter
myofibrillar myopathy 5
FLNC p.Arg2409His Conflicting Single submitter
hypertrophic cardiomyopathy 26
FLNC p.Arg2410His Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Arg2467Cys Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Arg2467His Conflicting Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Arg2495Cys Conflicting Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Arg2495His Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Arg334Ser Likely benign Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Arg437His Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Arg478His Conflicting Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Asn1132Ser Uncertain significance Single submitter
myofibrillar myopathy 5
FLNC p.Asn1817Ser Uncertain significance Single submitter
hypertrophic cardiomyopathy 26
FLNC p.Asn1958Lys Uncertain significance Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Asn2388Ser Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Asn2532His Uncertain significance Single submitter
myofibrillar myopathy 5
FLNC p.Asn47Ser Conflicting Single submitter
myofibrillar myopathy 5
FLNC p.Asp1439Asn Uncertain significance Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Asp1442Asn Uncertain significance Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Asp1468Asn Conflicting Single submitter
Cardiovascular phenotype
FLNC p.Asp1495Gly Uncertain significance Single submitter
hypertrophic cardiomyopathy 26
FLNC p.Asp1495Tyr Uncertain significance Single submitter
Cardiovascular phenotype
FLNC p.Asp1592Asn Uncertain significance Single submitter
Cardiovascular phenotype
FLNC p.Asp1686Tyr Uncertain significance Single submitter
myofibrillar myopathy 5
FLNC p.Asp1950Gly Uncertain significance Single submitter
myofibrillar myopathy 5
FLNC p.Asp2551Gly Uncertain significance Single submitter
distal myopathy with posterior leg and anterior hand involvement
FLNC p.Asp31Glu Uncertain significance Single submitter
Cardiovascular phenotype
FLNC p.Asp530Tyr Uncertain significance Single submitter
FLNC p.Asp866Asn Conflicting Single submitter
Cardiovascular phenotype

All FLNC variants

Pathogenic 374

Showing the top 300 by review status; the full set is in the sitemap.

p.Tyr1840Ter Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.2390-10_2406del Multiple submitters Cardiovascular phenotype
c.4457-1G>C Multiple submitters FLNC-related disorder
p.Ala1902fs Multiple submitters myofibrillar myopathy 5
p.Ala260fs Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Arg1354fs Multiple submitters Cardiovascular phenotype
p.Arg1370Ter Multiple submitters hypertrophic cardiomyopathy 26
p.Arg2326Ter Multiple submitters Cardiovascular phenotype
p.Arg269Ter Multiple submitters hypertrophic cardiomyopathy 26
p.Arg482Ter Multiple submitters myofibrillar myopathy 5
p.Arg650Ter Multiple submitters myofibrillar myopathy 5
p.Arg695fs Multiple submitters myofibrillar myopathy 5
p.Asn329fs Multiple submitters hypertrophic cardiomyopathy 26
p.Asn721fs Multiple submitters Cardiovascular phenotype
p.Asp1061fs Multiple submitters myofibrillar myopathy 5
p.Asp530fs Multiple submitters myofibrillar myopathy 5
p.Cys2555Ter Multiple submitters myofibrillar myopathy 5
p.Gln1024Ter Multiple submitters hypertrophic cardiomyopathy 26
p.Gln1478Ter Multiple submitters myofibrillar myopathy 5
p.Gln1662Ter Multiple submitters myofibrillar myopathy 5
p.Gln224fs Multiple submitters Cardiovascular phenotype
p.Gln2295Ter Multiple submitters myofibrillar myopathy 5
p.Gln2303Ter Multiple submitters myofibrillar myopathy 5
p.Gln2501Ter Multiple submitters Cardiovascular phenotype
p.Gln357Ter Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Gln707Ter Multiple submitters Cardiovascular phenotype
p.Gln937Ter Multiple submitters hypertrophic cardiomyopathy 26
p.Glu2334Ter Multiple submitters Cardiovascular phenotype
p.Glu2472Ter Multiple submitters myofibrillar myopathy 5
p.Glu365Ter Multiple submitters Cardiovascular phenotype
p.Glu386Ter Multiple submitters dilated cardiomyopathy
p.Gly1649fs Multiple submitters Cardiovascular phenotype
p.Gly188fs Multiple submitters myofibrillar myopathy 5
p.Gly2054Ter Multiple submitters myofibrillar myopathy 5
p.Gly745fs Multiple submitters myofibrillar myopathy 5
p.Ile178fs Multiple submitters Cardiovascular phenotype
p.Leu1573Ter Multiple submitters myofibrillar myopathy 5
p.Lys113fs Multiple submitters Cardiovascular phenotype
p.Pro1031fs Multiple submitters myofibrillar myopathy 5
p.Pro2081fs Multiple submitters myofibrillar myopathy 5
p.Ser2004fs Multiple submitters myofibrillar myopathy 5
p.Thr1684fs Multiple submitters Cardiovascular phenotype
p.Trp185Ter Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Trp2710Ter Multiple submitters hypertrophic cardiomyopathy 26
p.Trp34Ter Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Tyr1316fs Multiple submitters Cardiovascular phenotype
p.Tyr1840Ter Multiple submitters hypertrophic cardiomyopathy 26
p.Tyr1926Ter Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Tyr2274Ter Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Tyr638Ter Multiple submitters myofibrillar myopathy 5
p.Tyr833Ter Multiple submitters Cardiovascular phenotype
p.Val1682fs Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Val2439fs Multiple submitters myofibrillar myopathy 5
p.Val513fs Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Val957_Val958insTer Multiple submitters myofibrillar myopathy 5
p.Gly1912fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Phe2222fs Single submitter Cardiovascular phenotype
p.Tyr2455Ter Single submitter hypertrophic cardiomyopathy 26
p.Ile2527fs Single submitter
c.2389+1G>T Single submitter distal myopathy with posterior leg and anterior hand involvement
c.2389+2T>C Single submitter distal myopathy with posterior leg and anterior hand involvement
c.2550_2550+3del Single submitter hypertrophic cardiomyopathy 26
c.2813delG Single submitter Cardiovascular phenotype
c.3791-1delG Single submitter hypertrophic cardiomyopathy 26
c.4127+1G>T Single submitter distal myopathy with posterior leg and anterior hand involvement
c.4288+1del Single submitter
c.5669-1del Single submitter distal myopathy with posterior leg and anterior hand involvement
c.6004+1G>A Single submitter hypertrophic cardiomyopathy 26
c.6727+21_7065del Single submitter hypertrophic cardiomyopathy 26
c.7251+1G>A Single submitter distal myopathy with posterior leg and anterior hand involvement
c.7251+1G>T Single submitter myofibrillar myopathy 5
c.7562-1_7612dup Single submitter hypertrophic cardiomyopathy 26
c.7562-15_7637delinsGAGG Single submitter Two-raphe bicuspid aortic valve
p.Ala1081fs Single submitter Cardiovascular phenotype
p.Ala10fs Single submitter Cardiovascular phenotype
p.Ala1247fs Single submitter myofibrillar myopathy 5
p.Ala1290Ter Single submitter hypertrophic cardiomyopathy 26
p.Ala1334fs Single submitter hypertrophic cardiomyopathy 26
p.Ala1455fs Single submitter Cardiovascular phenotype
p.Ala1459fs Single submitter myofibrillar myopathy 5
p.Ala1539Thr Single submitter myofibrillar myopathy 5
p.Ala1672fs Single submitter hypertrophic cardiomyopathy 26
p.Ala1922fs Single submitter myofibrillar myopathy 5
p.Ala2252fs Single submitter myofibrillar myopathy 5
p.Ala2319fs Single submitter myofibrillar myopathy 5
p.Ala371fs Single submitter myofibrillar myopathy 5
p.Ala403fs Single submitter hypertrophic cardiomyopathy 26
p.Ala504fs Single submitter Cardiovascular phenotype
p.Ala528fs Single submitter hypertrophic cardiomyopathy 26
p.Ala813fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Ala838fs Single submitter hypertrophic cardiomyopathy 26
p.Ala854fs Single submitter hypertrophic cardiomyopathy 26
p.Ala993fs Single submitter hypertrophic cardiomyopathy 26
p.Arg1027_Tyr1028insTer Single submitter myofibrillar myopathy 5
p.Arg1426fs Single submitter myofibrillar myopathy 5
p.Arg2437fs Single submitter myofibrillar myopathy 5
p.Arg2443fs Single submitter Cardiovascular phenotype
p.Arg269fs Single submitter hypertrophic cardiomyopathy 26
p.Arg381fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Arg421fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Arg461fs Single submitter Cardiovascular phenotype
p.Arg629fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Arg766_Val767insTer Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Asn1286fs Single submitter Cardiovascular phenotype
p.Asn390fs Single submitter myofibrillar myopathy 5
p.Asn40fs Single submitter myofibrillar myopathy 5
p.Asp1568fs Single submitter Cardiovascular phenotype
p.Asp1950delinsGlyTer Single submitter hypertrophic cardiomyopathy 26
p.Asp2093fs Single submitter Cardiovascular phenotype
p.Asp2116fs Single submitter hypertrophic cardiomyopathy 26
p.Asp2271fs Single submitter myofibrillar myopathy 5
p.Asp2460fs Single submitter hypertrophic cardiomyopathy 26
p.Asp2504fs Single submitter myofibrillar myopathy 5
p.Asp316fs Single submitter hypertrophic cardiomyopathy 26
p.Asp59fs Single submitter myofibrillar myopathy 5
p.Asp623fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Asp627fs Single submitter familial dilated cardiomyopathy
p.Asp664fs Single submitter myofibrillar myopathy 5
p.Asp949fs Single submitter myofibrillar myopathy 5
p.Cys1013Ter Single submitter hypertrophic cardiomyopathy 26
p.Cys1117Ter Single submitter Cardiovascular phenotype
p.Cys1653Ter Single submitter myofibrillar myopathy 5
p.Cys198fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Cys203Ter Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Cys535Ter Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Cys665Ter Single submitter Cardiovascular phenotype
p.Gln1315fs Single submitter myofibrillar myopathy 5
p.Gln1522fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Gln1522Ter Single submitter myofibrillar myopathy 5
p.Gln1577Ter Single submitter myofibrillar myopathy 5
p.Gln159Ter Single submitter hypertrophic cardiomyopathy 26
p.Gln163fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Gln1749Ter Single submitter hypertrophic cardiomyopathy 26
p.Gln1956Ter Single submitter myofibrillar myopathy 5
p.Gln1976Ter Single submitter Cardiovascular phenotype
p.Gln2166Ter Single submitter myofibrillar myopathy 5
p.Gln2212Ter Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Gln2241Ter Single submitter myofibrillar myopathy 5
p.Gln224Ter Single submitter myofibrillar myopathy 5
p.Gln2281fs Single submitter myofibrillar myopathy 5
p.Gln233Ter Single submitter hypertrophic cardiomyopathy 26
p.Gln2425fs Single submitter hypertrophic cardiomyopathy 26
p.Gln2432Ter Single submitter hypertrophic cardiomyopathy 26
p.Gln2499fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Gln2499Ter Single submitter myofibrillar myopathy 5
p.Gln256Ter Single submitter hypertrophic cardiomyopathy 26
p.Gln2647Ter Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Gln288Ter Single submitter myofibrillar myopathy 5
p.Gln294Ter Single submitter Cardiovascular phenotype
p.Gln301Ter Single submitter myofibrillar myopathy 5
p.Gln485Ter Single submitter myofibrillar myopathy 5
p.Gln564Ter Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Gln613Ter Single submitter Cardiovascular phenotype
p.Gln61Ter Single submitter myofibrillar myopathy 5
p.Gln796fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Gln79Ter Single submitter hypertrophic cardiomyopathy 26
p.Gln850Ter Single submitter myofibrillar myopathy 5
p.Gln936fs Single submitter myofibrillar myopathy 5
p.Gln94Ter Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Gln972Ter Single submitter hypertrophic cardiomyopathy 26
p.Gln984Ter Single submitter myofibrillar myopathy 5
p.Glu1361Ter Single submitter myofibrillar myopathy 5
p.Glu1374fs Single submitter hypertrophic cardiomyopathy 26
p.Glu1561fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Glu1779Ter Single submitter myofibrillar myopathy 5
p.Glu1797fs Single submitter myofibrillar myopathy 5
p.Glu1889fs Single submitter myofibrillar myopathy 5
p.Glu2012Ter Single submitter hypertrophic cardiomyopathy 26
p.Glu220fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Glu2268Ter Single submitter myofibrillar myopathy 5
p.Glu2334fs Single submitter hypertrophic cardiomyopathy 26
p.Glu2382fs Single submitter hypertrophic cardiomyopathy 26
p.Glu238fs Single submitter Cardiovascular phenotype
p.Glu2458fs Single submitter Cardiovascular phenotype
p.Glu2554fs Single submitter myofibrillar myopathy 5
p.Glu322Ter Single submitter myofibrillar myopathy 5
p.Glu425fs Single submitter Cardiovascular phenotype
p.Glu508fs Single submitter Cardiovascular phenotype
p.Glu600Ter Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Glu609Ter Single submitter hypertrophic cardiomyopathy 26
p.Glu617Ter Single submitter myofibrillar myopathy 5
p.Glu689fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Glu689Ter Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Glu760Ter Single submitter Cardiovascular phenotype
p.Glu873Ter Single submitter myofibrillar myopathy 5
p.Glu919fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Gly1075fs Single submitter myofibrillar myopathy 5
p.Gly1285fs Single submitter myofibrillar myopathy 5
p.Gly1379fs Single submitter Cardiovascular phenotype
p.Gly1444_Lys1445insTer Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Gly1760fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Gly1796fs Single submitter spastic ataxia
p.Gly1872fs Single submitter myofibrillar myopathy 5
p.Gly1912fs Single submitter myofibrillar myopathy 5
p.Gly201fs Single submitter Cardiovascular phenotype
p.Gly2320fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Gly2320Ter Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Gly2321fs Single submitter hypertrophic cardiomyopathy 26
p.Gly2489fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Gly2506fs Single submitter hypertrophic cardiomyopathy 26
p.Gly2517fs Single submitter Cardiovascular phenotype
p.Gly2518fs Single submitter myofibrillar myopathy 5
p.Gly265fs Single submitter myofibrillar myopathy 5
p.Gly382fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Gly488fs Single submitter myofibrillar myopathy 5
p.Gly507fs Single submitter hypertrophic cardiomyopathy 26
p.Gly584fs Single submitter Cardiovascular phenotype
p.Gly802fs Single submitter familial dilated cardiomyopathy
p.Gly811fs Single submitter myofibrillar myopathy 5
p.Gly973fs Single submitter myofibrillar myopathy 5
p.His1139fs Single submitter myofibrillar myopathy 5
p.His1287fs Single submitter myofibrillar myopathy 5
p.His1504fs Single submitter myofibrillar myopathy 5
p.His448fs Single submitter hypertrophic cardiomyopathy 26
p.Ile1226fs Single submitter hypertrophic cardiomyopathy 26
p.Ile1857fs Single submitter myofibrillar myopathy 5
p.Ile1969fs Single submitter myofibrillar myopathy 5
p.Ile2150fs Single submitter myofibrillar myopathy 5
p.Ile37fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Ile459fs Single submitter hypertrophic cardiomyopathy 26
p.Ile616fs Single submitter myofibrillar myopathy 5
p.Ile683fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Ile716fs Single submitter hypertrophic cardiomyopathy 26
p.Ile969fs Single submitter myofibrillar myopathy 5
p.Leu1072fs Single submitter hypertrophic cardiomyopathy 26
p.Leu1280fs Single submitter dilated cardiomyopathy 1A
p.Leu133fs Single submitter hypertrophic cardiomyopathy 26
p.Leu165fs Single submitter Cardiovascular phenotype
p.Leu1787fs Single submitter myofibrillar myopathy 5
p.Leu1892fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Leu194fs Single submitter myofibrillar myopathy 5
p.Leu1974fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Leu2421fs Single submitter myofibrillar myopathy 5
p.Leu50fs Single submitter myofibrillar myopathy 5
p.Leu604fs Single submitter myofibrillar myopathy 5
p.Lys1237fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Lys1586fs Single submitter myofibrillar myopathy 5
p.Lys1615fs Single submitter myofibrillar myopathy 5
p.Lys1885Ter Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Lys2019fs Single submitter
p.Lys2113fs Single submitter hypertrophic cardiomyopathy 26
p.Lys2481fs Single submitter hypertrophic cardiomyopathy 26
p.Lys259fs Single submitter hypertrophic cardiomyopathy 26
p.Lys2699Ter Single submitter
p.Lys343Ter Single submitter myofibrillar myopathy 5
p.Lys502fs Single submitter hypertrophic cardiomyopathy 26
p.Lys51fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Lys703_Gln707delinsTer Single submitter hypertrophic cardiomyopathy 26
p.Lys737fs Single submitter hypertrophic cardiomyopathy 26
p.Met2250fs Single submitter myofibrillar myopathy 5
p.Met370fs Single submitter hypertrophic cardiomyopathy 26
p.Phe1730fs Single submitter hypertrophic cardiomyopathy 26
p.Phe2114fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Phe2218fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Phe2222fs Single submitter myofibrillar myopathy 5
p.Phe42fs Single submitter hypertrophic cardiomyopathy 26
p.Phe500fs Single submitter Cardiovascular phenotype
p.Phe533fs Single submitter hypertrophic cardiomyopathy 26
p.Phe92fs Single submitter hypertrophic cardiomyopathy 26
p.Pro1060_Asp1061insTer Single submitter myofibrillar myopathy 5
p.Pro1060fs Single submitter myofibrillar myopathy 5
p.Pro1358fs Single submitter myofibrillar myopathy 5
p.Pro1685fs Single submitter hypertrophic cardiomyopathy 26
p.Pro2035fs Single submitter hypertrophic cardiomyopathy 26
p.Pro2298fs Single submitter myofibrillar myopathy 5
p.Pro2447fs Single submitter hypertrophic cardiomyopathy 26
p.Pro516fs Single submitter hypertrophic cardiomyopathy 26
p.Pro557fs Single submitter myofibrillar myopathy 5
p.Pro863fs Single submitter hypertrophic cardiomyopathy 26
p.Pro88fs Single submitter myofibrillar myopathy 5
p.Pro955fs Single submitter hypertrophic cardiomyopathy 26
p.Ser1005Ter Single submitter Cardiovascular phenotype
p.Ser1007fs Single submitter myofibrillar myopathy 5
p.Ser1161fs Single submitter Cardiovascular phenotype
p.Ser1893fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Ser1893Ter Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Ser1900fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Ser1966fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Ser2082fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Ser2258fs Single submitter myofibrillar myopathy 5
p.Ser2415fs Single submitter Cardiovascular phenotype
p.Ser2448fs Single submitter hypertrophic cardiomyopathy 26
p.Ser2477fs Single submitter hypertrophic cardiomyopathy 26
p.Ser2490fs Single submitter
p.Ser2509Ter Single submitter myofibrillar myopathy 5
p.Ser2523_Ser2524insTer Single submitter myofibrillar myopathy 5
p.Ser2586fs Single submitter myofibrillar myopathy 5
p.Ser2627fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Ser339fs Single submitter hypertrophic cardiomyopathy 26
p.Ser379Ter Single submitter myofibrillar myopathy 5
p.Ser792fs Single submitter Cardiovascular phenotype
p.Ser868fs Single submitter myofibrillar myopathy 5
p.Thr1227fs Single submitter hypertrophic cardiomyopathy 26
p.Thr1240fs Single submitter hypertrophic cardiomyopathy 26
p.Thr1317fs Single submitter myofibrillar myopathy 5
p.Thr1597fs Single submitter hypertrophic cardiomyopathy 26
p.Thr2188fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Thr402fs Single submitter myofibrillar myopathy 5
p.Thr439fs Single submitter myofibrillar myopathy 5
p.Thr519fs Single submitter Cardiovascular phenotype

Pathogenic/Likely pathogenic 50

c.2550+2T>C Multiple submitters Cardiovascular phenotype
c.2930-1G>A Multiple submitters Cardiovascular phenotype
c.3791-1G>C Multiple submitters hypertrophic cardiomyopathy 26
c.4952-2A>T Multiple submitters myofibrillar myopathy 5
c.5199+1G>T Multiple submitters Cardiovascular phenotype
p.Ala1186Val Multiple submitters FLNC-related disorder
p.Ala193Thr Multiple submitters hypertrophic cardiomyopathy 26
p.Ala656fs Multiple submitters Cardiovascular phenotype
p.Arg1313fs Multiple submitters hypertrophic cardiomyopathy 26
p.Arg1313Ter Multiple submitters Cardiovascular phenotype
p.Arg1341Ter Multiple submitters Cardiovascular phenotype
p.Arg1352fs Multiple submitters hypertrophic cardiomyopathy 26
p.Arg1354Ter Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Arg1657Ter Multiple submitters Cardiovascular phenotype
p.Arg1995fs Multiple submitters myofibrillar myopathy 5
p.Arg991Ter Multiple submitters Cardiovascular phenotype
p.Asp1301fs Multiple submitters Cardiovascular phenotype
p.Cys1103fs Multiple submitters FLNC-related disorder
p.Cys2454_Tyr2455insTer Multiple submitters myofibrillar myopathy 5
p.Gln1315Ter Multiple submitters FLNC-related disorder
p.Gln1835Ter Multiple submitters dilated cardiomyopathy
p.Gly1232fs Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Gly1722fs Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Gly2642fs Multiple submitters hypertrophic cardiomyopathy 26
p.Ile1937Asn Multiple submitters myofibrillar myopathy 5
p.Ile2527fs Multiple submitters hypertrophic cardiomyopathy 26
p.Leu1573fs Multiple submitters hypertrophic cardiomyopathy 26
p.Lys1398Ter Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Lys1541Ter Multiple submitters hypertrophic cardiomyopathy 26
p.Lys2591fs Multiple submitters myofibrillar myopathy 5
p.Met222Val Multiple submitters hypertrophic cardiomyopathy 26
p.Met251Thr Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Phe2165fs Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Phe298fs Multiple submitters hypertrophic cardiomyopathy 26
p.Pro2513fs Multiple submitters hypertrophic cardiomyopathy 26
p.Pro611fs Multiple submitters myofibrillar myopathy 5
p.Ser101fs Multiple submitters FLNC-related disorder
p.Ser1624Leu Multiple submitters hypertrophic cardiomyopathy 26
p.Ser1806Ter Multiple submitters Cardiovascular phenotype
p.Thr1351fs Multiple submitters hypertrophic cardiomyopathy 26
p.Thr2412fs Multiple submitters hypertrophic cardiomyopathy 26
p.Thr943_Val944insTer Multiple submitters FLNC-related disorder
p.Tyr1826Ter Multiple submitters myofibrillar myopathy 5
p.Tyr1918Ter Multiple submitters Cardiovascular phenotype
p.Val1441fs Multiple submitters hypertrophic cardiomyopathy 26
p.Val1643fs Multiple submitters myofibrillar myopathy 5
p.Val1896fs Multiple submitters Cardiovascular phenotype
p.Val2064fs Multiple submitters familial dilated cardiomyopathy
p.Val2297Met Multiple submitters myofibrillar myopathy 5
p.Val2614fs Multiple submitters distal myopathy with posterior leg and anterior hand involvement

Likely pathogenic 194

c.1047+1G>T Multiple submitters myofibrillar myopathy 5
c.1048-1G>A Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.1210+1G>A Multiple submitters Cardiovascular phenotype
c.1549+2T>G Multiple submitters hypertrophic cardiomyopathy 26
c.2007+1G>A Multiple submitters hypertrophic cardiomyopathy 26
c.2550+1G>C Multiple submitters myofibrillar myopathy 5
c.2929+2_2929+7del Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.4128-1G>C Multiple submitters myofibrillar myopathy 5
c.5398+1G>C Multiple submitters Cardiovascular phenotype
c.5399-1G>A Multiple submitters myofibrillar myopathy 5
c.6727+1G>A Multiple submitters hypertrophic cardiomyopathy 26
c.7385-1G>A Multiple submitters FLNC-related disorder
c.7780+1G>C Multiple submitters FLNC-related disorder
c.850+1G>T Multiple submitters myofibrillar myopathy 5
c.1047+1G>A Single submitter myofibrillar myopathy 5
c.1047+2dup Single submitter FLNC-related disorder
c.1211-1G>A Single submitter FLNC-related disorder
c.1411+1G>T Single submitter hypertrophic cardiomyopathy 26
c.1549+1G>A Single submitter hypertrophic cardiomyopathy 26
c.1676+1G>A Single submitter hypertrophic cardiomyopathy 26
c.1677-1G>C Single submitter Cardiovascular phenotype
c.1813+1G>C Single submitter Cardiovascular phenotype
c.1814-1G>A Single submitter myofibrillar myopathy 5
c.2265+1G>T Single submitter
c.2265+2T>C Single submitter distal myopathy with posterior leg and anterior hand involvement
c.2266-1G>A Single submitter FLNC-related disorder
c.2389+1G>A Single submitter FLNC-related disorder
c.2641+1G>T Single submitter myofibrillar myopathy 5
c.2641+2T>G Single submitter distal myopathy with posterior leg and anterior hand involvement
c.2811+1G>A Single submitter Cardiovascular phenotype
c.2811+1G>T Single submitter hypertrophic cardiomyopathy 26
c.2918_2929+6delinsCCTCCCA Single submitter FLNC-related disorder
c.2920_2929+6delinsTCCA Single submitter hypertrophic cardiomyopathy 26
c.2920_2929+6delinsTCCCA Single submitter hypertrophic cardiomyopathy 26
c.352+1G>A Single submitter distal myopathy with posterior leg and anterior hand involvement
c.352+1G>T Single submitter hypertrophic cardiomyopathy 26
c.3791-14_3895del Single submitter hypertrophic cardiomyopathy 26
c.3791-1G>A Single submitter distal myopathy with posterior leg and anterior hand involvement
c.3964+1G>A Single submitter myofibrillar myopathy 5
c.3964+1G>T Single submitter myofibrillar myopathy 5
c.4127+1G>A Single submitter hypertrophic cardiomyopathy 26
c.4128-2_4128-1del Single submitter myofibrillar myopathy 5
c.4288+1G>A Single submitter myofibrillar myopathy 5
c.4288+1G>T Single submitter cardiomyopathy
c.4288+2T>G Single submitter myofibrillar myopathy 5
c.4456+1G>A Single submitter myofibrillar myopathy 5
c.4457-10_4464del Single submitter FLNC-related disorder
c.4457-1G>A Single submitter distal myopathy with posterior leg and anterior hand involvement
c.4457-1G>T Single submitter Cardiovascular phenotype
c.4580_4580+12del Single submitter hypertrophic cardiomyopathy 26
c.4580+1G>A Single submitter myofibrillar myopathy 5
c.4581-2A>G Single submitter familial dilated cardiomyopathy
c.4737+1G>T Single submitter distal myopathy with posterior leg and anterior hand involvement
c.4738-1G>A Single submitter myofibrillar myopathy 5
c.4920_4927+6del Single submitter distal myopathy with posterior leg and anterior hand involvement
c.4927+2T>C Single submitter hypertrophic cardiomyopathy 26
c.4927+2T>G Single submitter myofibrillar myopathy 5
c.4928-1G>C Single submitter myofibrillar myopathy 5
c.5199+1G>A Single submitter hypertrophic cardiomyopathy 26
c.5199+1G>C Single submitter myofibrillar myopathy 5
c.5399-2A>C Single submitter myofibrillar myopathy 5
c.5540-2A>G Single submitter distal myopathy with posterior leg and anterior hand involvement
c.5668+1G>C Single submitter
c.5842+1G>T Single submitter myofibrillar myopathy 5
c.5842+2T>G Single submitter myofibrillar myopathy 5
c.5843-1G>C Single submitter hypertrophic cardiomyopathy 26
c.602-1G>A Single submitter hypertrophic cardiomyopathy 26
c.602-2A>C Single submitter hypertrophic cardiomyopathy 26
c.6202_6208+11del Single submitter hypertrophic cardiomyopathy 26
c.6208+2T>C Single submitter hypertrophic cardiomyopathy 26
c.6209-1G>C Single submitter hypertrophic cardiomyopathy 26
c.6362-1G>T Single submitter hypertrophic cardiomyopathy 26
c.6474_6484+25del Single submitter hypertrophic cardiomyopathy 26
c.699+1G>A Single submitter distal myopathy with posterior leg and anterior hand involvement
c.699+2T>C Single submitter distal myopathy with posterior leg and anterior hand involvement
c.6997+1G>A Single submitter myofibrillar myopathy 5
c.6997+1G>T Single submitter distal myopathy with posterior leg and anterior hand involvement
c.6998-2A>G Single submitter
c.700-1G>A Single submitter hypertrophic cardiomyopathy 26
c.7384+2T>C Single submitter distal myopathy with posterior leg and anterior hand involvement
c.7385-2A>G Single submitter Cardiovascular phenotype
c.7562-1G>A Single submitter myofibrillar myopathy 5
c.7780+1G>A Single submitter distal myopathy with posterior leg and anterior hand involvement
c.7780+2T>A Single submitter myofibrillar myopathy 5
c.7780+2T>C Single submitter myofibrillar myopathy 5
c.850+1G>A Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Ala103fs Single submitter FLNC-related disorder
p.Ala1183Leu Single submitter hypertrophic cardiomyopathy 26
p.Ala1368fs Single submitter Cardiovascular phenotype
p.Ala1895Pro Single submitter myofibrillar myopathy 5
p.Ala29Glu Single submitter hypertrophic cardiomyopathy 26
p.Ala985fs Single submitter hypertrophic cardiomyopathy 26
p.Arg437fs Single submitter Cardiovascular phenotype
p.Arg84fs Single submitter hypertrophic cardiomyopathy 26
p.Asn2087fs Single submitter
p.Asn975fs Single submitter hypertrophic cardiomyopathy 26
p.Asp16fs Single submitter hypertrophic cardiomyopathy 26
p.Asp1819del Single submitter FLNC-related disorder
p.Asp2703_Tyr2704insTer Single submitter myofibrillar myopathy 5
p.Asp798fs Single submitter FLNC-related disorder
p.Asp9fs Single submitter Cardiovascular phenotype
p.Cys1103Ter Single submitter FLNC-related disorder
p.Cys203Tyr Single submitter nemaline myopathy
p.Cys2101Ter Single submitter hypertrophic cardiomyopathy 26
p.Cys2679fs Single submitter Cardiovascular phenotype
p.Gln159fs Single submitter FLNC-related disorder
p.Gln1851Ter Single submitter myofibrillar myopathy 5
p.Gln1956fs Single submitter hypertrophic cardiomyopathy 26
p.Gln2248Ter Single submitter familial dilated cardiomyopathy
p.Gln2253Ter Single submitter FLNC-related disorder
p.Gln905Ter Single submitter dilated cardiomyopathy
p.Gln936Ter Single submitter hypertrophic cardiomyopathy 26
p.Gln982Ter Single submitter FLNC-related disorder
p.Glu1388fs Single submitter FLNC-related disorder
p.Glu1489fs Single submitter cardiovascular disorder
p.Glu2009fs Single submitter cardiomyopathy
p.Glu2012fs Single submitter FLNC-related disorder
p.Glu2311Ter Single submitter Cardiovascular phenotype
p.Glu2352Ter Single submitter FLNC-related disorder
p.Glu2358Ter Single submitter hypertrophic cardiomyopathy 26
p.Glu238Ter Single submitter FLNC-related disorder
p.Glu365_Val366insTer Single submitter hypertrophic cardiomyopathy 26
p.Glu678fs Single submitter myofibrillar myopathy 5
p.Glu765Ter Single submitter Cardiovascular phenotype
p.Gly1020fs Single submitter Cardiovascular phenotype
p.Gly1094fs Single submitter hypertrophic cardiomyopathy 26
p.Gly1115fs Single submitter hypertrophic cardiomyopathy 26
p.Gly1424Val Single submitter myofibrillar myopathy 5
p.Gly1546Asp Single submitter myofibrillar myopathy 5
p.Gly1548Arg Single submitter hypertrophic cardiomyopathy 26
p.Gly1898fs Single submitter cardiomyopathy
p.Gly2011Glu Single submitter FLNC-related disorder
p.Gly2198fs Single submitter FLNC-related disorder
p.Gly2223fs Single submitter myofibrillar myopathy 5
p.Gly2569fs Single submitter
p.Gly505fs Single submitter
p.Gly570Ter Single submitter hypertrophic cardiomyopathy 26
p.Gly771fs Single submitter cardiomyopathy
p.His451fs Single submitter distal myopathy with posterior leg and anterior hand involvement
p.His657fs Single submitter
p.Ile2573Ser Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Ile643fs Single submitter
p.Leu1134fs Single submitter hypertrophic cardiomyopathy 26
p.Leu1919fs Single submitter
p.Leu2174fs Single submitter FLNC-related disorder
p.Leu974fs Single submitter FLNC-related disorder
p.Lys1088fs Single submitter FLNC-related disorder
p.Lys1713Ter Single submitter myofibrillar myopathy 5
p.Lys2630Ter Single submitter
p.Lys886fs Single submitter
p.Phe1153fs Single submitter FLNC-related disorder
p.Phe1529fs Single submitter familial dilated cardiomyopathy
p.Pro2028fs Single submitter FLNC-related disorder
p.Pro2298Ser Single submitter restrictive cardiomyopathy
p.Pro662fs Single submitter hypertrophic cardiomyopathy 26
p.Ser1256Ter Single submitter FLNC-related disorder
p.Ser1449Ter Single submitter familial dilated cardiomyopathy
p.Ser1470fs Single submitter hypertrophic cardiomyopathy 26
p.Ser1637fs Single submitter hypertrophic cardiomyopathy 26
p.Ser1940Arg Single submitter hypertrophic cardiomyopathy 26
p.Ser1966Ter Single submitter dilated cardiomyopathy
p.Ser612fs Single submitter FLNC-related disorder
p.Ser652Ter Single submitter FLNC-related disorder
p.Thr1809fs Single submitter myofibrillar myopathy 5
p.Thr2103fs Single submitter
p.Thr2414fs Single submitter FLNC-related disorder
p.Thr2520Asn Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Trp206Ter Single submitter familial dilated cardiomyopathy
p.Trp2710Gly Single submitter FLNC-related disorder
p.Trp744Ter Single submitter FLNC-related disorder
p.Tyr1212fs Single submitter hypertrophic cardiomyopathy 26
p.Tyr1319Ter Single submitter
p.Tyr928Ter Single submitter FLNC-related disorder
p.Tyr932Ter Single submitter
p.Val1119fs Single submitter cardiomyopathy
p.Val1152_Phe1153insTer Single submitter hypertrophic cardiomyopathy 26
p.Val195Gly Single submitter
p.Val2046fs Single submitter
p.Val2399fs Single submitter
p.Val2496fs Single submitter cardiomyopathy
p.Val2691fs Single submitter FLNC-related disorder
p.Val312fs Single submitter hypertrophic cardiomyopathy 26
p.Val327fs Single submitter hypertrophic cardiomyopathy 26
p.Val532fs Single submitter
c.3790+1G>C No assertion criteria hypertrophic cardiomyopathy 26
c.6004+2T>C No assertion criteria hypertrophic cardiomyopathy 26
p.Arg1762fs No assertion criteria FLNC-associated cardiomyopathy
p.Asp1580Asn No assertion criteria hypertrophic cardiomyopathy 26
p.Gln572Ter No assertion criteria hypertrophic cardiomyopathy 26
p.Ile1621Phe No assertion criteria restrictive cardiomyopathy
p.Pro1729Ser No assertion criteria distal myopathy with posterior leg and anterior hand involvement
p.Pro836fs No assertion criteria cardiomyopathy
p.Ser1391Ter No assertion criteria hypertrophic cardiomyopathy 26
p.Thr929fs No assertion criteria dilated cardiomyopathy

Conflicting classifications of pathogenicity 530

Showing the top 300 by review status; the full set is in the sitemap.

p.Gly2243= Single submitter distal myopathy with posterior leg and anterior hand involvement
c.1211-5G>C Single submitter Cardiovascular phenotype
c.1412-1G>A Single submitter hypertrophic cardiomyopathy 26 ⚠
c.1412-5C>T Single submitter Cardiovascular phenotype
c.1548_1549+2del Single submitter dilated cardiomyopathy ⚠
c.1813+11G>T Single submitter hypertrophic cardiomyopathy 26
c.1813+2T>C Single submitter Cardiovascular phenotype ⚠
c.2008-7C>T Single submitter hypertrophic cardiomyopathy 26
c.2121+4G>A Single submitter myofibrillar myopathy 5
c.2265+1G>A Single submitter myofibrillar myopathy 5 ⚠
c.2265+5G>A Single submitter hypertrophic cardiomyopathy 26
c.2389+4C>T Single submitter Cardiovascular phenotype
c.2390-8C>G Single submitter distal myopathy with posterior leg and anterior hand involvement
c.2641+8_2641+11del Single submitter hypertrophic cardiomyopathy 26
c.2811+6C>T Single submitter myofibrillar myopathy 5
c.2930-5C>T Single submitter hypertrophic cardiomyopathy 26
c.2930-7C>A Single submitter distal myopathy with posterior leg and anterior hand involvement
c.3193-2A>G Single submitter distal myopathy with posterior leg and anterior hand involvement ⚠
c.3790+5G>A Single submitter myofibrillar myopathy 5
c.4127+9C>T Single submitter hypertrophic cardiomyopathy 26
c.4289-5C>T Single submitter Cardiovascular phenotype
c.4951+2T>C Single submitter distal myopathy with posterior leg and anterior hand involvement ⚠
c.4951+3G>A Single submitter myofibrillar myopathy 5
c.4951+7G>A Single submitter cardiomyopathy
c.5298+6G>A Single submitter distal myopathy with posterior leg and anterior hand involvement
c.5399-12_5399-9del Single submitter hypertrophic cardiomyopathy 26
c.5540-6C>G Single submitter distal myopathy with posterior leg and anterior hand involvement
c.5668+3G>A Single submitter Cardiovascular phenotype
p.Ala1922Thr Single submitter myofibrillar myopathy 5
c.5842+1G>A Single submitter Cardiovascular phenotype
c.5842+7C>T Single submitter myofibrillar myopathy 5
c.5843-2A>G Single submitter Cardiovascular phenotype ⚠
c.6004+6C>T Single submitter Cardiovascular phenotype
c.6208+8C>G Single submitter myofibrillar myopathy 5
c.6485-8C>T Single submitter distal myopathy with posterior leg and anterior hand involvement
c.6997+4A>G Single submitter Cardiovascular phenotype
c.6998-5C>T Single submitter hypertrophic cardiomyopathy 26
c.700-5C>T Single submitter Cardiovascular phenotype
c.7135+6C>T Single submitter myofibrillar myopathy 5
c.7385-4A>G Single submitter distal myopathy with posterior leg and anterior hand involvement
c.7780+1G>T Single submitter myofibrillar myopathy 5 ⚠
c.7990+10G>A Single submitter cardiomyopathy
c.850+4T>G Single submitter cardiomyopathy
c.851-4G>A Single submitter myofibrillar myopathy 5
c.851-5C>T Single submitter Cardiovascular phenotype
c.970-4A>G Single submitter cardiomyopathy
c.970-5A>G Single submitter myofibrillar myopathy 5
p.Ala1021Val Single submitter Cardiovascular phenotype ⚠
p.Ala1081Ser Single submitter myofibrillar myopathy 5
p.Ala1081Thr Single submitter Cardiovascular phenotype
p.Ala1081Val Single submitter hypertrophic cardiomyopathy 26
p.Ala1090Ser Single submitter Cardiovascular phenotype
p.Ala1118Val Single submitter Cardiovascular phenotype
p.Ala1208Thr Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Ala1208Val Single submitter myofibrillar myopathy 5 ⚠
p.Ala1247Val Single submitter Cardiovascular phenotype
p.Ala1318Thr Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Ala1334Thr Single submitter Cardiovascular phenotype ⚠
p.Ala1475Val Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Ala1551Thr Single submitter myofibrillar myopathy 5 ⚠
p.Ala1566Thr Single submitter Cardiovascular phenotype
p.Ala1569Thr Single submitter Cardiovascular phenotype
p.Ala1588Gly Single submitter Cardiovascular phenotype
p.Ala1755Gly Single submitter myofibrillar myopathy 5 ⚠
p.Ala1755Thr Single submitter hypertrophic cardiomyopathy 26 ⚠
p.Ala1761Thr Single submitter Cardiovascular phenotype ⚠
p.Ala1792Val Single submitter hypertrophic cardiomyopathy 26
p.Ala1922Val Single submitter Cardiovascular phenotype
p.Ala1979Thr Single submitter myofibrillar myopathy 5
p.Ala2220Val Single submitter myofibrillar myopathy 5 ⚠
p.Ala2273Thr Single submitter distal myopathy with posterior leg and anterior hand involvement ⚠
p.Ala2289Thr Single submitter Cardiovascular phenotype ⚠
p.Ala2329Gly Single submitter myofibrillar myopathy 5 ⚠
p.Ala2427Val Single submitter myofibrillar myopathy 5 ⚠
p.Ala2430Val Single submitter Cardiovascular phenotype ⚠
p.Ala2537Thr Single submitter myofibrillar myopathy 5 ⚠
p.Ala375Thr Single submitter hypertrophic cardiomyopathy 26
p.Ala403= Single submitter Cardiovascular phenotype
p.Ala443Val Single submitter myofibrillar myopathy 5 ⚠
p.Ala455Val Single submitter myofibrillar myopathy 5
p.Ala476Ser Single submitter Cardiovascular phenotype
p.Ala479Thr Single submitter Cardiovascular phenotype ⚠
p.Ala614Thr Single submitter Cardiovascular phenotype ⚠
p.Ala688Thr Single submitter myofibrillar myopathy 5
p.Ala694Val Single submitter distal myopathy with posterior leg and anterior hand involvement ⚠
p.Ala838Val Single submitter myofibrillar myopathy 5
p.Ala867Thr Single submitter hypertrophic cardiomyopathy 26
p.Ala867Val Single submitter myofibrillar myopathy 5 ⚠
p.Arg1002Gln Single submitter Cardiovascular phenotype ⚠
p.Arg1008Cys Single submitter myofibrillar myopathy 5 ⚠
p.Arg1008His Single submitter myofibrillar myopathy 5
p.Arg1009Trp Single submitter hypertrophic cardiomyopathy 26
p.Arg1150Gly Single submitter distal myopathy with posterior leg and anterior hand involvement ⚠
p.Arg1159Gln Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Arg1167His Single submitter myofibrillar myopathy 5
p.Arg1241His Single submitter myofibrillar myopathy 5
p.Arg1267Gln Single submitter myofibrillar myopathy 5 ⚠
p.Arg1267Trp Single submitter myofibrillar myopathy 5 ⚠
p.Arg1278Lys Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Arg1291Gly Single submitter myofibrillar myopathy 5
p.Arg1291His Single submitter myofibrillar myopathy 5 ⚠
p.Arg1313Gln Single submitter myofibrillar myopathy 5
p.Arg1341Gln Single submitter hypertrophic cardiomyopathy 26
p.Arg1352Ser Single submitter distal myopathy with posterior leg and anterior hand involvement ⚠
p.Arg1354Gln Single submitter myofibrillar myopathy 5
p.Arg1370Gln Single submitter myofibrillar myopathy 5 ⚠
p.Arg1426Gln Single submitter Cardiovascular phenotype ⚠
p.Arg1434Cys Single submitter Cardiovascular phenotype ⚠
p.Arg1434His Single submitter hypertrophic cardiomyopathy 26
p.Arg1434Leu Single submitter Cardiovascular phenotype
p.Arg1460Gln Single submitter distal myopathy with posterior leg and anterior hand involvement ⚠
p.Arg1460Trp Single submitter Cardiovascular phenotype
p.Arg1474Trp Single submitter hypertrophic cardiomyopathy 26
p.Arg1494Trp Single submitter myofibrillar myopathy 5
p.Arg1526Cys Single submitter Cardiovascular phenotype ⚠
p.Arg1543Gln Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Arg157Cys Single submitter hypertrophic cardiomyopathy 26
p.Arg157His Single submitter hypertrophic cardiomyopathy 26
p.Arg1591Trp Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Arg1609Trp Single submitter Cardiovascular phenotype ⚠
p.Arg1627Cys Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Arg1627His Single submitter Cardiovascular phenotype ⚠
p.Arg1657Gln Single submitter cardiomyopathy ⚠
p.Arg1719His Single submitter Cardiovascular phenotype ⚠
p.Arg1758Gln Single submitter Cardiovascular phenotype ⚠
p.Arg1758Trp Single submitter myofibrillar myopathy 5
p.Arg1762Cys Single submitter myofibrillar myopathy 5 ⚠
p.Arg1762His Single submitter myofibrillar myopathy 5 ⚠
p.Arg1803= Single submitter myofibrillar myopathy 5
p.Arg1803Gln Single submitter dilated cardiomyopathy ⚠
p.Arg1803Trp Single submitter Cardiovascular phenotype
p.Arg1811Gln Single submitter Cardiovascular phenotype ⚠
p.Arg183Cys Single submitter Cardiovascular phenotype
p.Arg183His Single submitter Cardiovascular phenotype ⚠
p.Arg1860His Single submitter Cardiovascular phenotype ⚠
p.Arg1931Cys Single submitter myofibrillar myopathy 5
p.Arg1931Leu Single submitter myofibrillar myopathy 5
p.Arg1982Cys Single submitter myofibrillar myopathy 5 ⚠
p.Arg1995His Single submitter Cardiovascular phenotype
p.Arg1999Trp Single submitter myofibrillar myopathy 5
p.Arg2018Cys Single submitter Cardiovascular phenotype ⚠
p.Arg2018His Single submitter Cardiovascular phenotype ⚠
p.Arg2045Gln Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Arg2133Cys Single submitter myofibrillar myopathy 5
p.Arg2133His Single submitter Cardiovascular phenotype
p.Arg2140Trp Single submitter Cardiovascular phenotype ⚠
p.Arg2141Gln Single submitter Cardiovascular phenotype ⚠
p.Arg2176His Single submitter hypertrophic cardiomyopathy 26
p.Arg2180Cys Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Arg2190His Single submitter Cardiovascular phenotype
p.Arg2190Pro Single submitter hypertrophic cardiomyopathy 26
p.Arg2203His Single submitter Cardiovascular phenotype
p.Arg2206= Single submitter Cardiovascular phenotype
p.Arg2228Gln Single submitter FLNC-related disorder
p.Arg2230His Single submitter myofibrillar myopathy 5
p.Arg2239Trp Single submitter myofibrillar myopathy 5
p.Arg2277Cys Single submitter hypertrophic cardiomyopathy 26 ⚠
p.Arg2293His Single submitter distal myopathy with posterior leg and anterior hand involvement ⚠
p.Arg2318Gln Single submitter Cardiovascular phenotype ⚠
p.Arg2326Gln Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Arg2340Trp Single submitter myofibrillar myopathy 5 ⚠
p.Arg2364Cys Single submitter FLNC-related disorder
p.Arg2409His Single submitter hypertrophic cardiomyopathy 26 ⚠
p.Arg2410Cys Single submitter hypertrophic cardiomyopathy 26
p.Arg2410His Single submitter myofibrillar myopathy 5 ⚠
p.Arg2437Gln Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Arg2437Trp Single submitter Cardiovascular phenotype
p.Arg2443Gln Single submitter Cardiovascular phenotype
p.Arg2443Trp Single submitter myofibrillar myopathy 5
p.Arg2467Cys Single submitter myofibrillar myopathy 5 ⚠
p.Arg2467His Single submitter distal myopathy with posterior leg and anterior hand involvement ⚠
p.Arg2495Cys Single submitter distal myopathy with posterior leg and anterior hand involvement ⚠
p.Arg2495Gly Single submitter distal myopathy with posterior leg and anterior hand involvement ⚠
p.Arg2495His Single submitter myofibrillar myopathy 5 ⚠
p.Arg2553Trp Single submitter myofibrillar myopathy 5
p.Arg2621Gln Single submitter hypertrophic cardiomyopathy 26 ⚠
p.Arg2690= Single submitter hypertrophic cardiomyopathy 26
p.Arg334Cys Single submitter myofibrillar myopathy 5
p.Arg361Cys Single submitter Cardiovascular phenotype ⚠
p.Arg381Cys Single submitter Cardiovascular phenotype
p.Arg381His Single submitter myofibrillar myopathy 5
p.Arg420Gln Single submitter distal myopathy with posterior leg and anterior hand involvement ⚠
p.Arg420Trp Single submitter Cardiovascular phenotype
p.Arg421Gln Single submitter Cardiovascular phenotype ⚠
p.Arg421Trp Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Arg437His Single submitter Cardiovascular phenotype ⚠
p.Arg461Cys Single submitter myofibrillar myopathy 5
p.Arg461Leu Single submitter distal myopathy with posterior leg and anterior hand involvement ⚠
p.Arg478His Single submitter distal myopathy with posterior leg and anterior hand involvement ⚠
p.Arg490His Single submitter Cardiovascular phenotype ⚠
p.Arg558His Single submitter myofibrillar myopathy 5
p.Arg558Leu Single submitter Cardiovascular phenotype ⚠
p.Arg629Gln Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Arg629Trp Single submitter Cardiovascular phenotype
p.Arg695His Single submitter myofibrillar myopathy 5
p.Arg695Pro Single submitter Cardiovascular phenotype ⚠
p.Arg69Trp Single submitter distal myopathy with posterior leg and anterior hand involvement ⚠
p.Arg766Gln Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Arg766Trp Single submitter myofibrillar myopathy 5
p.Arg840His Single submitter myofibrillar myopathy 5 ⚠
p.Arg879Cys Single submitter myofibrillar myopathy 5
p.Arg879His Single submitter Cardiovascular phenotype
p.Arg916Gln Single submitter Cardiovascular phenotype ⚠
p.Arg916Leu Single submitter Cardiovascular phenotype
p.Asn1206Ser Single submitter myofibrillar myopathy 5
p.Asn1366Ser Single submitter myofibrillar myopathy 5
p.Asn1496= Single submitter Cardiovascular phenotype
p.Asn212Ser Single submitter Cardiovascular phenotype ⚠
p.Asn2157= Single submitter Cardiovascular phenotype
p.Asn2388Ser Single submitter Cardiovascular phenotype ⚠
p.Asn329Ser Single submitter myofibrillar myopathy 5
p.Asn358Ser Single submitter myofibrillar myopathy 5
p.Asn376Lys Single submitter Cardiovascular phenotype
p.Asn390Ser Single submitter Cardiovascular phenotype
p.Asn393His Single submitter hypertrophic cardiomyopathy 26 ⚠
p.Asn47Ser Single submitter myofibrillar myopathy 5 ⚠
p.Asn721Lys Single submitter distal myopathy with posterior leg and anterior hand involvement ⚠
p.Asn782Ser Single submitter Cardiovascular phenotype
p.Asn849Ile Single submitter myofibrillar myopathy 5
p.Asn989Lys Single submitter Cardiovascular phenotype ⚠
p.Asp1000Ala Single submitter FLNC-related disorder
p.Asp1043Asn Single submitter myofibrillar myopathy 5
p.Asp1468Asn Single submitter Cardiovascular phenotype ⚠
p.Asp150Gly Single submitter myofibrillar myopathy 5
p.Asp1691Asn Single submitter myofibrillar myopathy 5
p.Asp16Gly Single submitter distal myopathy with posterior leg and anterior hand involvement ⚠
p.Asp1841= Single submitter Cardiovascular phenotype
p.Asp1886Gly Single submitter hypertrophic cardiomyopathy 26
p.Asp205Asn Single submitter Cardiovascular phenotype
p.Asp226Asn Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Asp2394His Single submitter familial hypertrophic cardiomyopathy ⚠
p.Asp27Glu Single submitter distal myopathy with posterior leg and anterior hand involvement ⚠
p.Asp399= Single submitter Cardiovascular phenotype
p.Asp646Asn Single submitter hypertrophic cardiomyopathy 26
p.Asp646Glu Single submitter Cardiovascular phenotype
p.Asp708Glu Single submitter hypertrophic cardiomyopathy 26
p.Asp710Asn Single submitter Cardiovascular phenotype
p.Asp723Asn Single submitter hypertrophic cardiomyopathy 26 ⚠
p.Asp798Glu Single submitter hypertrophic cardiomyopathy 26
p.Asp820Asn Single submitter myofibrillar myopathy 5
p.Asp866Asn Single submitter Cardiovascular phenotype ⚠
p.Asp925Val Single submitter Cardiovascular phenotype ⚠
p.Asp949Asn Single submitter Cardiovascular phenotype
p.Cys2088Arg Single submitter distal myopathy with posterior leg and anterior hand involvement ⚠
p.Cys535= Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Gln1471His Single submitter Dilated Cardiomyopathy, Dominant
p.Gln1522Arg Single submitter Cardiovascular phenotype ⚠
p.Gln2143Arg Single submitter myofibrillar myopathy 5
p.Glu1104Lys Single submitter myofibrillar myopathy 5 ⚠
p.Glu1128Lys Single submitter Cardiovascular phenotype ⚠
p.Glu1185Lys Single submitter Cardiovascular phenotype
p.Glu1489Lys Single submitter Cardiovascular phenotype
p.Glu1571Lys Single submitter Cardiovascular phenotype ⚠
p.Glu1582Lys Single submitter myofibrillar myopathy 5 ⚠
p.Glu1741Lys Single submitter myofibrillar myopathy 5 ⚠
p.Glu1742Lys Single submitter myofibrillar myopathy 5 ⚠
p.Glu1776Asp Single submitter myofibrillar myopathy 5 ⚠
p.Glu2053Lys Single submitter FLNC-related disorder ⚠
p.Glu2208Lys Single submitter myofibrillar myopathy 5
p.Glu2270Lys Single submitter myofibrillar myopathy 5
p.Glu2270Val Single submitter myofibrillar myopathy 5
p.Glu2334Lys Single submitter myofibrillar myopathy 5 ⚠
p.Glu2358Lys Single submitter myofibrillar myopathy 5 ⚠
p.Glu2472Lys Single submitter Cardiovascular phenotype
p.Glu2516Lys Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Glu309Lys Single submitter Cardiovascular phenotype
p.Glu365Gly Single submitter Cardiovascular phenotype
p.Glu534Lys Single submitter hypertrophic cardiomyopathy 26 ⚠
p.Glu536Lys Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Glu617Lys Single submitter myofibrillar myopathy 5 ⚠
p.Glu637Gly Single submitter Cardiovascular phenotype
p.Glu760Lys Single submitter hypertrophic cardiomyopathy 26 ⚠
p.Glu793Lys Single submitter myofibrillar myopathy 5 ⚠
p.Glu913Lys Single submitter myofibrillar myopathy 5
p.Gly1019Cys Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Gly1049Phe Single submitter hypertrophic cardiomyopathy 26
p.Gly1168Ser Single submitter hypertrophic cardiomyopathy 26 ⚠
p.Gly1184= Single submitter Cardiovascular phenotype
p.Gly11Ser Single submitter Cardiovascular phenotype ⚠
p.Gly1284Asp Single submitter hypertrophic cardiomyopathy 26 ⚠
p.Gly1285Ser Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Gly1357Arg Single submitter Cardiovascular phenotype ⚠
p.Gly1363Ala Single submitter Cardiovascular phenotype
p.Gly1444Ala Single submitter Cardiovascular phenotype ⚠
p.Gly1456Ala Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Gly1546Ser Single submitter myofibrillar myopathy 5 ⚠
p.Gly1674Ser Single submitter myofibrillar myopathy 5
p.Gly1700Ser Single submitter Cardiovascular phenotype ⚠
p.Gly1760Ser Single submitter myofibrillar myopathy 5 ⚠
p.Gly1820Ser Single submitter hypertrophic cardiomyopathy 26 ⚠
p.Gly1890= Single submitter myofibrillar myopathy 5
p.Gly2011Arg Single submitter myofibrillar myopathy 5 ⚠
p.Gly2039Arg Single submitter Cardiovascular phenotype ⚠
p.Gly2094Arg Single submitter hypertrophic cardiomyopathy 26 ⚠
p.Gly2130= Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Gly2151Ser Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Gly2199Arg Single submitter myofibrillar myopathy 5
p.Gly2214= Single submitter myofibrillar myopathy 5
p.Gly2235Ser Single submitter myofibrillar myopathy 5 ⚠
p.Gly2269= Single submitter hypertrophic cardiomyopathy 26

Benign 119

c.1412-159G>A Multiple submitters
c.1412-95C>G Multiple submitters
c.1676+63C>G Multiple submitters
c.1813+12G>A Multiple submitters hypertrophic cardiomyopathy 26
c.1814-28T>C Multiple submitters
c.2121+181C>T Multiple submitters
c.2121+236A>T Multiple submitters
c.2265+12C>G Multiple submitters hypertrophic cardiomyopathy 26
c.2265+41C>A Multiple submitters
c.2266-14G>C Multiple submitters myofibrillar myopathy 5
c.2390-13C>T Multiple submitters myofibrillar myopathy 5
c.2390-42G>T Multiple submitters
c.2551-113G>A Multiple submitters
c.2551-56T>C Multiple submitters
c.3193-148C>T Multiple submitters
c.4289-178T>A Multiple submitters
c.4289-4A>C Multiple submitters Cardiovascular phenotype
c.4737+29G>A Multiple submitters
c.4737+9_4737+10del Multiple submitters hypertrophic cardiomyopathy 26
c.5398+16T>C Multiple submitters myofibrillar myopathy 5
c.5399-91G>A Multiple submitters
c.5540-120T>C Multiple submitters
c.5669-12C>T Multiple submitters myofibrillar myopathy 5
c.5842+91C>T Multiple submitters
c.5843-87G>A Multiple submitters
c.5843-88G>C Multiple submitters
c.6208+84C>T Multiple submitters
c.6484+55G>C Multiple submitters
c.7135+24G>A Multiple submitters
c.7251+194G>T Multiple submitters
c.7252-40G>C Multiple submitters
c.850+18G>A Multiple submitters myofibrillar myopathy 5
c.969+56G>A Multiple submitters
c.-210G>A Multiple submitters
c.-230C>A Multiple submitters
c.-316C>T Multiple submitters
c.*1A>G Multiple submitters cardiomyopathy
c.*214C>T Multiple submitters
p.Ala1208= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Ala1864= Multiple submitters myofibrillar myopathy 5
p.Arg1352= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Arg1434= Multiple submitters myofibrillar myopathy 5
p.Asp1468= Multiple submitters hypertrophic cardiomyopathy 26
p.Asp2407= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Gly1284= Multiple submitters cardiomyopathy
p.Gly265= Multiple submitters myofibrillar myopathy 5
p.His49= Multiple submitters myofibrillar myopathy 5
p.Ile240= Multiple submitters myofibrillar myopathy 5
p.Leu1280= Multiple submitters myofibrillar myopathy 5
p.Leu1325= Multiple submitters myofibrillar myopathy 5
p.Leu1477= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Pro458= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Pro486= Multiple submitters Cardiovascular phenotype
p.Tyr538= Multiple submitters myofibrillar myopathy 5
p.Val1099= Multiple submitters myofibrillar myopathy 5
p.Val344= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Ser1806= Single submitter
c.1047+21dup Single submitter hypertrophic cardiomyopathy 26
c.1411+208G>A Single submitter
c.1550-11dup Single submitter hypertrophic cardiomyopathy 26
c.1676+20dup Single submitter myofibrillar myopathy 5
c.1676+63_1676+64del Single submitter
c.1676+66_1677-63del Single submitter
c.1813+16dup Single submitter myofibrillar myopathy 5
c.2121+294G>A Single submitter
c.2265+22del Single submitter hypertrophic cardiomyopathy 26
c.2389+20del Single submitter hypertrophic cardiomyopathy 26
c.2389+48C>T Single submitter
c.3192+43G>C Single submitter
c.352+117_352+118insT Single submitter
c.352+41G>A Single submitter
c.353-32C>T Single submitter
c.3791-105_3791-95del Single submitter
c.3791-194T>G Single submitter
c.3964+40_3964+41insGGTGGGCAGGGCCGGGCA Single submitter
c.4128-30T>C Single submitter
c.4288+22_4288+23dup Single submitter myofibrillar myopathy 5
c.4288+304T>C Single submitter
c.4288+7AG[3] Single submitter myofibrillar myopathy 5
c.4289-50G>A Single submitter
c.4581-159T>C Single submitter
c.4581-176G>A Single submitter
c.4581-224C>A Single submitter
c.4581-49G>A Single submitter
c.5842+260G>C Single submitter
c.5843-248C>T Single submitter
c.5843-6dup Single submitter hypertrophic cardiomyopathy 26
c.6004+12dup Single submitter myofibrillar myopathy 5
c.601+203A>G Single submitter
c.602-34C>T Single submitter
c.6361+27C>T Single submitter
c.6485-37G>A Single submitter
c.6727+21C>T Single submitter
c.699+34G>A Single submitter
c.6997+37G>C Single submitter
c.6998-36G>A Single submitter
c.7136-34C>G Single submitter
c.7251+201C>T Single submitter
c.7252-173C>T Single submitter
c.7252-282CA[2] Single submitter
c.7384+23A>T Single submitter
c.7780+177C>T Single submitter
c.7780+24C>T Single submitter
c.7781-117G>A Single submitter
c.7781-124A>G Single submitter
c.7781-290G>A Single submitter
c.7990+15dup Single submitter myofibrillar myopathy 5
c.*55CA[10] Single submitter
c.*55CA[12] Single submitter
c.*55CA[8] Single submitter
p.Arg2190= Single submitter hypertrophic cardiomyopathy 26
p.Cys682= Single submitter myofibrillar myopathy 5
p.Glu2270Gln Single submitter hypertrophic cardiomyopathy 26
p.Gly1049Cys Single submitter Cardiovascular phenotype
p.Gly1343= Single submitter hypertrophic cardiomyopathy 26
p.Gly874= Single submitter hypertrophic cardiomyopathy 26
p.Leu50= Single submitter hypertrophic cardiomyopathy 26
p.Thr2175= Single submitter distal myopathy with posterior leg and anterior hand involvement
p.Val2276= Single submitter myofibrillar myopathy 5

Benign/Likely benign 161

c.1549+15C>A Multiple submitters myofibrillar myopathy 5
c.1813+36G>A Multiple submitters
c.2122-17T>C Multiple submitters myofibrillar myopathy 5
c.2122-27T>C Multiple submitters
c.2265+9T>C Multiple submitters myofibrillar myopathy 5
c.2266-3C>T Multiple submitters Cardiovascular phenotype
c.2266-5C>T Multiple submitters Cardiovascular phenotype
c.2389+12C>T Multiple submitters myofibrillar myopathy 5
c.2389+13G>A Multiple submitters myofibrillar myopathy 5
c.2390-14C>T Multiple submitters myofibrillar myopathy 5
c.2390-9T>C Multiple submitters cardiomyopathy
c.352+10G>A Multiple submitters myofibrillar myopathy 5
c.3791-18G>A Multiple submitters myofibrillar myopathy 5
c.3964+9C>T Multiple submitters myofibrillar myopathy 5
c.4456+13C>T Multiple submitters hypertrophic cardiomyopathy 26
c.4456+14G>A Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.4456+16G>A Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.4457-19C>G Multiple submitters myofibrillar myopathy 5
c.4581-5T>A Multiple submitters Cardiovascular phenotype
c.4737+15A>G Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.4737+18C>T Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.4927+15G>A Multiple submitters myofibrillar myopathy 5
c.4928-7T>C Multiple submitters hypertrophic cardiomyopathy 26
c.4952-10C>T Multiple submitters hypertrophic cardiomyopathy 26
c.4952-9G>A Multiple submitters myofibrillar myopathy 5
c.4952-9G>T Multiple submitters myofibrillar myopathy 5
c.5200-18C>T Multiple submitters hypertrophic cardiomyopathy 26
c.5299-16C>T Multiple submitters myofibrillar myopathy 5
c.5398+6G>C Multiple submitters myofibrillar myopathy 5
c.5540-20C>T Multiple submitters hypertrophic cardiomyopathy 26
c.5842+17G>A Multiple submitters hypertrophic cardiomyopathy 26
c.5842+8G>A Multiple submitters myofibrillar myopathy 5
c.5843-6C>G Multiple submitters myofibrillar myopathy 5
c.6004+11G>A Multiple submitters myofibrillar myopathy 5
c.6004+19G>A Multiple submitters myofibrillar myopathy 5
c.6005-9T>C Multiple submitters hypertrophic cardiomyopathy 26
c.602-11C>T Multiple submitters myofibrillar myopathy 5
c.6362-17C>G Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.699+9G>A Multiple submitters myofibrillar myopathy 5
c.7136-6C>A Multiple submitters myofibrillar myopathy 5
c.7251+13G>A Multiple submitters myofibrillar myopathy 5
c.7385-5C>T Multiple submitters myofibrillar myopathy 5
c.7562-5C>T Multiple submitters myofibrillar myopathy 5
c.7780+10A>G Multiple submitters myofibrillar myopathy 5
c.7781-9A>G Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.7990+19G>T Multiple submitters myofibrillar myopathy 5
c.7990+9C>T Multiple submitters cardiomyopathy
c.851-7C>A Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.969+14G>T Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.-12G>T Multiple submitters
p.Ala1569= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Ala1734= Multiple submitters Cardiovascular phenotype
p.Ala1922= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Ala1922Thr Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Ala1983= Multiple submitters Cardiovascular phenotype
p.Ala199= Multiple submitters hypertrophic cardiomyopathy 26
p.Ala2427= Multiple submitters myofibrillar myopathy 5
p.Ala32= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Ala455= Multiple submitters Cardiovascular phenotype
p.Ala709Thr Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Arg1241Cys Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Arg1567Gln Multiple submitters myofibrillar myopathy 5
p.Arg1860Cys Multiple submitters hypertrophic cardiomyopathy 26
p.Arg2364His Multiple submitters hypertrophic cardiomyopathy 26
p.Arg526Gln Multiple submitters hypertrophic cardiomyopathy 26
p.Arg727His Multiple submitters myofibrillar myopathy 5
p.Asn1207= Multiple submitters Cardiovascular phenotype
p.Asn244= Multiple submitters Cardiovascular phenotype
p.Asn367= Multiple submitters Cardiovascular phenotype
p.Asn475= Multiple submitters cardiomyopathy
p.Asn757= Multiple submitters Cardiovascular phenotype
p.Asp1000= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Asp187= Multiple submitters cardiomyopathy
p.Asp1964= Multiple submitters myofibrillar myopathy 5
p.Asp2040= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Asp226= Multiple submitters Cardiovascular phenotype
p.Asp304= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Asp591= Multiple submitters Cardiovascular phenotype
p.Asp623= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Asp651= Multiple submitters Cardiovascular phenotype
p.Asp693Ala Multiple submitters Cardiovascular phenotype
p.Asp798Asn Multiple submitters Cardiovascular phenotype
p.Cys1103= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Gln94= Multiple submitters myofibrillar myopathy 5
p.Glu247= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Glu536= Multiple submitters myofibrillar myopathy 5
p.Glu634= Multiple submitters Cardiovascular phenotype
p.Gly1142= Multiple submitters myofibrillar myopathy 5
p.Gly1570= Multiple submitters myofibrillar myopathy 5
p.Gly1649= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Gly1760= Multiple submitters Cardiovascular phenotype
p.Gly1866= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Gly2330= Multiple submitters myofibrillar myopathy 5
p.Gly2330Ser Multiple submitters myofibrillar myopathy 5 ⚠
p.Gly2370= Multiple submitters hypertrophic cardiomyopathy 26
p.Gly2585= Multiple submitters Cardiovascular phenotype
p.Gly306= Multiple submitters Cardiovascular phenotype
p.Gly553Ser Multiple submitters myofibrillar myopathy 5 ⚠
p.Gly759= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Gly896Arg Multiple submitters myofibrillar myopathy 5
p.Gly947= Multiple submitters Cardiovascular phenotype
p.His1287= Multiple submitters Cardiovascular phenotype
p.His1740= Multiple submitters myofibrillar myopathy 5
p.His1765= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.His2296= Multiple submitters myofibrillar myopathy 5
p.His641= Multiple submitters Cardiovascular phenotype
p.Ile122= Multiple submitters hypertrophic cardiomyopathy 26
p.Ile1387= Multiple submitters Cardiovascular phenotype
p.Ile1564= Multiple submitters Cardiovascular phenotype
p.Ile2038= Multiple submitters myofibrillar myopathy 5
p.Ile2478= Multiple submitters Cardiovascular phenotype
p.Ile2707= Multiple submitters Cardiovascular phenotype
p.Ile400= Multiple submitters Cardiovascular phenotype
p.Ile969= Multiple submitters myofibrillar myopathy 5
p.Leu1385= Multiple submitters Cardiovascular phenotype
p.Leu1690= Multiple submitters myofibrillar myopathy 5
p.Leu2515= Multiple submitters Cardiovascular phenotype
p.Leu2538Phe Multiple submitters myofibrillar myopathy 5
p.Leu2706= Multiple submitters Cardiovascular phenotype
p.Leu2706_Ile2707= Multiple submitters myofibrillar myopathy 5
p.Leu659Arg Multiple submitters Cardiovascular phenotype
p.Lys1169= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Lys1169Arg Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Lys1445= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Lys259= Multiple submitters hypertrophic cardiomyopathy 26
p.Phe1433= Multiple submitters Cardiovascular phenotype
p.Phe2649= Multiple submitters hypertrophic cardiomyopathy 26
p.Pro200= Multiple submitters hypertrophic cardiomyopathy 26
p.Pro2257= Multiple submitters Cardiovascular phenotype
p.Pro2470= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Pro383Ala Multiple submitters hypertrophic cardiomyopathy 26 ⚠
p.Pro836Gln Multiple submitters cardiomyopathy
p.Pro856= Multiple submitters Cardiovascular phenotype
p.Ser1985= Multiple submitters myofibrillar myopathy 5
p.Ser2272= Multiple submitters myofibrillar myopathy 5
p.Ser2395= Multiple submitters myofibrillar myopathy 5
p.Ser2405= Multiple submitters myofibrillar myopathy 5
p.Ser506= Multiple submitters Cardiovascular phenotype
p.Ser8Pro Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Thr1271Ser Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Thr1380= Multiple submitters myofibrillar myopathy 5
p.Thr1681Arg Multiple submitters hypertrophic cardiomyopathy 26
p.Thr1684= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Thr1921= Multiple submitters Cardiovascular phenotype
p.Thr1970= Multiple submitters myofibrillar myopathy 5
p.Thr1978= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Thr2103= Multiple submitters hypertrophic cardiomyopathy 26
p.Thr2129= Multiple submitters Cardiovascular phenotype
p.Thr633= Multiple submitters myofibrillar myopathy 5
p.Thr834Met Multiple submitters myofibrillar myopathy 5
p.Thr933= Multiple submitters Cardiovascular phenotype
p.Tyr1754= Multiple submitters Cardiovascular phenotype
p.Tyr2511= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Tyr2683= Multiple submitters Cardiovascular phenotype
p.Tyr340= Multiple submitters myofibrillar myopathy 5
p.Val1253Ile Multiple submitters myofibrillar myopathy 5
p.Val1441= Multiple submitters myofibrillar myopathy 5
p.Val2059Met Multiple submitters myofibrillar myopathy 5
p.Val2331Met Multiple submitters Cardiovascular phenotype
p.Val831= Multiple submitters myofibrillar myopathy 5
c.-26_-9dup No assertion criteria FLNC-related disorder

Likely benign 1948

Showing the top 300 by review status; the full set is in the sitemap.

p.Ala1856= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Thr1921= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Arg1931= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Pro1938= Multiple submitters Cardiovascular phenotype
p.Pro2257= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Ala2263= Multiple submitters hypertrophic cardiomyopathy 26
p.Val2548= Multiple submitters hypertrophic cardiomyopathy 26
c.1047+9C>T Multiple submitters myofibrillar myopathy 5
c.1210+13C>T Multiple submitters myofibrillar myopathy 5
c.1210+15A>G Multiple submitters myofibrillar myopathy 5
c.1210+7C>T Multiple submitters myofibrillar myopathy 5
c.1211-52C>T Multiple submitters
c.1211-6C>T Multiple submitters myofibrillar myopathy 5
c.1412-13C>G Multiple submitters myofibrillar myopathy 5
c.1412-19C>T Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.1412-6C>G Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.1412-6C>T Multiple submitters myofibrillar myopathy 5
c.1549+7G>A Multiple submitters myofibrillar myopathy 5
c.1676+14G>T Multiple submitters myofibrillar myopathy 5
c.1677-12C>T Multiple submitters myofibrillar myopathy 5
c.1677-19C>T Multiple submitters hypertrophic cardiomyopathy 26
c.1813+10T>A Multiple submitters myofibrillar myopathy 5
c.1814-13C>A Multiple submitters myofibrillar myopathy 5
c.2007+18A>T Multiple submitters
c.2008-6G>A Multiple submitters hypertrophic cardiomyopathy 26
c.2122-111C>T Multiple submitters
c.2265+12C>T Multiple submitters hypertrophic cardiomyopathy 26
c.2266-12C>T Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.2266-15C>T Multiple submitters myofibrillar myopathy 5
c.2266-4G>A Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.2266-4G>T Multiple submitters myofibrillar myopathy 5
c.2390-12G>A Multiple submitters hypertrophic cardiomyopathy 26
c.2390-6C>T Multiple submitters myofibrillar myopathy 5
c.2550+18T>C Multiple submitters hypertrophic cardiomyopathy 26
c.2641+18G>A Multiple submitters hypertrophic cardiomyopathy 26
c.2642-18C>T Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.2812-14A>G Multiple submitters myofibrillar myopathy 5
c.2812-4A>T Multiple submitters myofibrillar myopathy 5
c.2930-13G>A Multiple submitters myofibrillar myopathy 5
c.2930-4G>A Multiple submitters Cardiovascular phenotype
c.352+13G>A Multiple submitters hypertrophic cardiomyopathy 26
c.352+8C>G Multiple submitters hypertrophic cardiomyopathy 26
c.352+9C>T Multiple submitters myofibrillar myopathy 5
c.353-13C>T Multiple submitters hypertrophic cardiomyopathy 26
c.3791-19C>T Multiple submitters hypertrophic cardiomyopathy 26
c.3791-8G>A Multiple submitters myofibrillar myopathy 5
c.4127+62C>T Multiple submitters
c.4127+7T>C Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.4288+19C>T Multiple submitters myofibrillar myopathy 5
c.4289-7_4289-5del Multiple submitters myofibrillar myopathy 5
c.4580+106G>A Multiple submitters
c.4581-12C>T Multiple submitters myofibrillar myopathy 5
c.4737+20A>G Multiple submitters myofibrillar myopathy 5
c.4927+14C>A Multiple submitters myofibrillar myopathy 5
c.4928-4C>G Multiple submitters Cardiovascular phenotype
c.4951+10C>T Multiple submitters myofibrillar myopathy 5
c.5200-9C>T Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.5298+10C>T Multiple submitters myofibrillar myopathy 5
c.5298+7C>T Multiple submitters myofibrillar myopathy 5
c.5299-14C>T Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.5399-17C>T Multiple submitters myofibrillar myopathy 5
c.5399-4G>T Multiple submitters hypertrophic cardiomyopathy 26
c.5399-8C>T Multiple submitters myofibrillar myopathy 5
c.5668+18C>G Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.5842+12G>A Multiple submitters hypertrophic cardiomyopathy 26
c.5843-118G>A Multiple submitters
c.6004+18C>T Multiple submitters hypertrophic cardiomyopathy 26
c.6004+7G>A Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.601+19A>G Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.601+8G>C Multiple submitters myofibrillar myopathy 5
c.602-13A>G Multiple submitters myofibrillar myopathy 5
c.602-6C>T Multiple submitters hypertrophic cardiomyopathy 26
c.602-7T>A Multiple submitters hypertrophic cardiomyopathy 26
c.6208+13C>T Multiple submitters hypertrophic cardiomyopathy 26
c.6209-145C>G Multiple submitters
c.6209-4C>T Multiple submitters Cardiovascular phenotype
c.6361+9C>G Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.6484+8C>T Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.6727+7A>G Multiple submitters myofibrillar myopathy 5
c.6728-15C>G Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.699+20del Multiple submitters myofibrillar myopathy 5
c.699+8C>T Multiple submitters myofibrillar myopathy 5
c.700-18C>G Multiple submitters hypertrophic cardiomyopathy 26
c.700-4G>A Multiple submitters Cardiovascular phenotype
c.700-4G>T Multiple submitters Cardiovascular phenotype
c.7135+7G>A Multiple submitters myofibrillar myopathy 5
c.7136-4C>T Multiple submitters Cardiovascular phenotype
c.7251+16G>A Multiple submitters myofibrillar myopathy 5
c.7251+16G>C Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.7252-13G>A Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.7384+5G>A Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.7385-15A>C Multiple submitters myofibrillar myopathy 5
c.7385-17C>T Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.7781-47A>G Multiple submitters
c.7990+15del Multiple submitters hypertrophic cardiomyopathy 26
c.7990+20C>T Multiple submitters myofibrillar myopathy 5
c.7991-19C>T Multiple submitters hypertrophic cardiomyopathy 26
c.850+19C>T Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.850+20G>A Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.851-4G>C Multiple submitters myofibrillar myopathy 5
c.970-15T>C Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.-199A>G Multiple submitters
p.Ala1021= Multiple submitters Cardiovascular phenotype
p.Ala1023= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Ala1067= Multiple submitters Cardiovascular phenotype
p.Ala1186= Multiple submitters Cardiovascular phenotype
p.Ala1196= Multiple submitters myofibrillar myopathy 5
p.Ala1200= Multiple submitters cardiomyopathy
p.Ala121= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Ala1247= Multiple submitters Cardiovascular phenotype
p.Ala1378= Multiple submitters Cardiovascular phenotype
p.Ala1488= Multiple submitters Cardiovascular phenotype
p.Ala1516= Multiple submitters Cardiovascular phenotype
p.Ala1520= Multiple submitters Cardiovascular phenotype
p.Ala1566= Multiple submitters hypertrophic cardiomyopathy 26
p.Ala1588= Multiple submitters Cardiovascular phenotype
p.Ala1708= Multiple submitters myofibrillar myopathy 5
p.Ala1761= Multiple submitters myofibrillar myopathy 5
p.Ala1792Thr Multiple submitters myofibrillar myopathy 5
p.Ala1895= Multiple submitters Cardiovascular phenotype
p.Ala2041= Multiple submitters Cardiovascular phenotype
p.Ala2220= Multiple submitters Cardiovascular phenotype
p.Ala225= Multiple submitters myofibrillar myopathy 5
p.Ala2263= Multiple submitters Cardiovascular phenotype
p.Ala2329= Multiple submitters myofibrillar myopathy 5
p.Ala2333= Multiple submitters myofibrillar myopathy 5
p.Ala2357= Multiple submitters Cardiovascular phenotype
p.Ala2430= Multiple submitters Cardiovascular phenotype
p.Ala2533= Multiple submitters hypertrophic cardiomyopathy 26
p.Ala2590= Multiple submitters Cardiovascular phenotype
p.Ala305= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Ala392= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Ala427= Multiple submitters Cardiovascular phenotype
p.Ala479= Multiple submitters Cardiovascular phenotype
p.Ala495= Multiple submitters myofibrillar myopathy 5
p.Ala504= Multiple submitters hypertrophic cardiomyopathy 26
p.Ala590= Multiple submitters Cardiovascular phenotype
p.Ala688= Multiple submitters myofibrillar myopathy 5
p.Ala838= Multiple submitters myofibrillar myopathy 5
p.Ala897= Multiple submitters Cardiovascular phenotype
p.Ala979= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Arg109= Multiple submitters Cardiovascular phenotype
p.Arg1150Gln Multiple submitters Cardiovascular phenotype
p.Arg1167= Multiple submitters myofibrillar myopathy 5
p.Arg1341= Multiple submitters Cardiovascular phenotype
p.Arg1458= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Arg1460= Multiple submitters Cardiovascular phenotype
p.Arg164= Multiple submitters Cardiovascular phenotype
p.Arg1751His Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Arg1758= Multiple submitters Cardiovascular phenotype
p.Arg1860= Multiple submitters myofibrillar myopathy 5
p.Arg2133= Multiple submitters hypertrophic cardiomyopathy 26
p.Arg2140= Multiple submitters myofibrillar myopathy 5
p.Arg2203= Multiple submitters myofibrillar myopathy 5
p.Arg2230= Multiple submitters hypertrophic cardiomyopathy 26
p.Arg420= Multiple submitters myofibrillar myopathy 5
p.Arg461= Multiple submitters Cardiovascular phenotype
p.Arg478= Multiple submitters cardiomyopathy
p.Arg490= Multiple submitters myofibrillar myopathy 5
p.Arg526Trp Multiple submitters myofibrillar myopathy 5
p.Arg766= Multiple submitters myofibrillar myopathy 5
p.Asn1206= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Asn1307= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Asn1550= Multiple submitters hypertrophic cardiomyopathy 26
p.Asn1858= Multiple submitters Cardiovascular phenotype
p.Asn1875= Multiple submitters myofibrillar myopathy 5
p.Asn1909= Multiple submitters Cardiovascular phenotype
p.Asn1987= Multiple submitters Cardiovascular phenotype
p.Asn2068= Multiple submitters Cardiovascular phenotype
p.Asn217= Multiple submitters myofibrillar myopathy 5
p.Asn2388= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Asn2434= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Asn2483= Multiple submitters myofibrillar myopathy 5
p.Asn2532= Multiple submitters Cardiovascular phenotype
p.Asn2570= Multiple submitters Cardiovascular phenotype
p.Asn2666= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Asn2693= Multiple submitters myofibrillar myopathy 5
p.Asn330= Multiple submitters hypertrophic cardiomyopathy 26
p.Asn358= Multiple submitters Cardiovascular phenotype
p.Asn47= Multiple submitters myofibrillar myopathy 5
p.Asn721= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Asn748= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Asn782= Multiple submitters myofibrillar myopathy 5
p.Asn826= Multiple submitters Cardiovascular phenotype
p.Asp1309= Multiple submitters Cardiovascular phenotype
p.Asp1418= Multiple submitters Cardiovascular phenotype
p.Asp1495= Multiple submitters Cardiovascular phenotype
p.Asp1538= Multiple submitters Cardiovascular phenotype
p.Asp1565= Multiple submitters Cardiovascular phenotype
p.Asp1568= Multiple submitters Cardiovascular phenotype
p.Asp1580= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Asp1699= Multiple submitters Cardiovascular phenotype
p.Asp1819= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Asp1949= Multiple submitters myofibrillar myopathy 5
p.Asp2093= Multiple submitters myofibrillar myopathy 5
p.Asp2216= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Asp2224= Multiple submitters Cardiovascular phenotype
p.Asp2479= Multiple submitters Cardiovascular phenotype
p.Asp2551= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Asp2712= Multiple submitters Cardiovascular phenotype
p.Asp409= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Asp619= Multiple submitters myofibrillar myopathy 5
p.Asp645= Multiple submitters Cardiovascular phenotype
p.Asp66= Multiple submitters myofibrillar myopathy 5
p.Asp708= Multiple submitters Cardiovascular phenotype
p.Asp715= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Asp723= Multiple submitters myofibrillar myopathy 5
p.Asp798= Multiple submitters Cardiovascular phenotype
p.Asp820= Multiple submitters hypertrophic cardiomyopathy 26
p.Cys1469= Multiple submitters Cardiovascular phenotype
p.Cys198= Multiple submitters Cardiovascular phenotype
p.Cys203= Multiple submitters Cardiovascular phenotype
p.Cys2369= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Cys626= Multiple submitters myofibrillar myopathy 5
p.Cys805= Multiple submitters myofibrillar myopathy 5
p.Gln1478= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Gln163= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Gln186= Multiple submitters myofibrillar myopathy 5
p.Gln2240= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Gln2501= Multiple submitters myofibrillar myopathy 5
p.Gln288= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Gln998= Multiple submitters myofibrillar myopathy 5
p.Glu1100= Multiple submitters Cardiovascular phenotype
p.Glu1104= Multiple submitters Cardiovascular phenotype
p.Glu1125= Multiple submitters Cardiovascular phenotype
p.Glu1320= Multiple submitters myofibrillar myopathy 5
p.Glu1492= Multiple submitters Cardiovascular phenotype
p.Glu154= Multiple submitters Cardiovascular phenotype
p.Glu1620= Multiple submitters hypertrophic cardiomyopathy 26
p.Glu1675= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Glu1696= Multiple submitters myofibrillar myopathy 5
p.Glu17= Multiple submitters myofibrillar myopathy 5
p.Glu1741= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Glu1770= Multiple submitters Cardiovascular phenotype
p.Glu1971= Multiple submitters myofibrillar myopathy 5
p.Glu2012= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Glu2104= Multiple submitters Cardiovascular phenotype
p.Glu2208= Multiple submitters myofibrillar myopathy 5
p.Glu2270= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Glu2325= Multiple submitters Cardiovascular phenotype
p.Glu238= Multiple submitters Cardiovascular phenotype
p.Glu2382= Multiple submitters myofibrillar myopathy 5
p.Glu2472= Multiple submitters myofibrillar myopathy 5
p.Glu2498= Multiple submitters Cardiovascular phenotype
p.Glu521= Multiple submitters myofibrillar myopathy 5
p.Glu617= Multiple submitters Cardiovascular phenotype
p.Glu98= Multiple submitters myofibrillar myopathy 5
p.Gly1018= Multiple submitters Cardiovascular phenotype
p.Gly1019= Multiple submitters Cardiovascular phenotype
p.Gly1019Ser Multiple submitters Cardiovascular phenotype
p.Gly1034= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Gly1069= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Gly1101= Multiple submitters myofibrillar myopathy 5
p.Gly1127= Multiple submitters hypertrophic cardiomyopathy 26
p.Gly1210= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Gly1231= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Gly1232= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Gly1252= Multiple submitters myofibrillar myopathy 5
p.Gly1322= Multiple submitters myofibrillar myopathy 5
p.Gly1424= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Gly1450= Multiple submitters Cardiovascular phenotype
p.Gly1548= Multiple submitters Cardiovascular phenotype
p.Gly1674= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Gly1676= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Gly1796= Multiple submitters Cardiovascular phenotype
p.Gly1807= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Gly2002= Multiple submitters myofibrillar myopathy 5
p.Gly2021= Multiple submitters myofibrillar myopathy 5
p.Gly2034= Multiple submitters Cardiovascular phenotype
p.Gly2050= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Gly2070= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Gly2094= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Gly2198= Multiple submitters Cardiovascular phenotype
p.Gly2259= Multiple submitters Cardiovascular phenotype
p.Gly230= Multiple submitters Cardiovascular phenotype
p.Gly2343= Multiple submitters Cardiovascular phenotype
p.Gly2346= Multiple submitters Cardiovascular phenotype
p.Gly2420= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Gly2438= Multiple submitters Cardiovascular phenotype
p.Gly2474= Multiple submitters myofibrillar myopathy 5
p.Gly2497= Multiple submitters Cardiovascular phenotype
p.Gly2517= Multiple submitters myofibrillar myopathy 5
p.Gly2599= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Gly2622= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Gly2671= Multiple submitters Cardiovascular phenotype
p.Gly2702= Multiple submitters Cardiovascular phenotype
p.Gly308= Multiple submitters myofibrillar myopathy 5
p.Gly408= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Gly446= Multiple submitters myofibrillar myopathy 5
p.Gly552= Multiple submitters Cardiovascular phenotype
p.Gly674= Multiple submitters myofibrillar myopathy 5
p.Gly746= Multiple submitters myofibrillar myopathy 5
p.Gly795= Multiple submitters Cardiovascular phenotype
p.Gly797= Multiple submitters myofibrillar myopathy 5
p.Gly802= Multiple submitters Cardiovascular phenotype
p.Gly885= Multiple submitters myofibrillar myopathy 5
p.Gly947Arg Multiple submitters myofibrillar myopathy 5
p.Gly948= Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Gly994= Multiple submitters Cardiovascular phenotype
p.His1139= Multiple submitters myofibrillar myopathy 5

Uncertain significance 2738

Showing the top 300 by review status; the full set is in the sitemap.

c.1210+5G>A Multiple submitters myofibrillar myopathy 5
c.1211-5G>A Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.1549+3_1549+4insT Multiple submitters hypertrophic cardiomyopathy 26
c.1549+5G>A Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.2389+5G>A Multiple submitters myofibrillar myopathy 5
c.2551-3C>T Multiple submitters myofibrillar myopathy 5
c.2642-2dup Multiple submitters myofibrillar myopathy 5
c.2811+3G>A Multiple submitters hypertrophic cardiomyopathy 26
c.2811+4C>T Multiple submitters myofibrillar myopathy 5
c.2811+5G>A Multiple submitters Cardiovascular phenotype
c.2930-5C>G Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.3790+5G>C Multiple submitters hypertrophic cardiomyopathy 26
c.3964+5G>A Multiple submitters myofibrillar myopathy 5
c.4580+4A>G Multiple submitters myofibrillar myopathy 5
c.5668+4A>C Multiple submitters Cardiovascular phenotype
c.6004+3G>A Multiple submitters myofibrillar myopathy 5
c.6209-3C>G Multiple submitters myofibrillar myopathy 5
c.6361+5G>A Multiple submitters myofibrillar myopathy 5
c.699+4C>T Multiple submitters myofibrillar myopathy 5
c.7385-3C>A Multiple submitters distal myopathy with posterior leg and anterior hand involvement
c.850+5G>A Multiple submitters myofibrillar myopathy 5
c.970-3T>C Multiple submitters myofibrillar myopathy 5
p.2187RTE[3] Multiple submitters myofibrillar myopathy 5
p.Ala1023Pro Multiple submitters myofibrillar myopathy 5 ⚠
p.Ala103Thr Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Ala1105Ser Multiple submitters Dilated Cardiomyopathy, Dominant
p.Ala1136Val Multiple submitters Cardiovascular phenotype
p.Ala1173Val Multiple submitters myofibrillar myopathy 5 ⚠
p.Ala1174Thr Multiple submitters Cardiovascular phenotype
p.Ala1200Thr Multiple submitters distal myopathy with posterior leg and anterior hand involvement ⚠
p.Ala1200Val Multiple submitters myofibrillar myopathy 5 ⚠
p.Ala1247Thr Multiple submitters myofibrillar myopathy 5
p.Ala1277Thr Multiple submitters myofibrillar myopathy 5
p.Ala1282Val Multiple submitters hypertrophic cardiomyopathy 26
p.Ala1298Val Multiple submitters Cardiovascular phenotype
p.Ala1318Ser Multiple submitters Cardiovascular phenotype
p.Ala1318Val Multiple submitters Cardiovascular phenotype
p.Ala1368Val Multiple submitters myofibrillar myopathy 5
p.Ala1378Val Multiple submitters Cardiovascular phenotype ⚠
p.Ala1472Val Multiple submitters Cardiovascular phenotype
p.Ala1475Ser Multiple submitters myofibrillar myopathy 5
p.Ala1536Val Multiple submitters myofibrillar myopathy 5
p.Ala1566Val Multiple submitters distal myopathy with posterior leg and anterior hand involvement ⚠
p.Ala1569Val Multiple submitters ⚠
p.Ala1672Thr Multiple submitters myofibrillar myopathy 5
p.Ala1708Val Multiple submitters myofibrillar myopathy 5 ⚠
p.Ala1734Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala199Thr Multiple submitters myofibrillar myopathy 5 ⚠
p.Ala2041Pro Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Ala2041Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala2041Thr Multiple submitters hypertrophic cardiomyopathy 26 ⚠
p.Ala2069Thr Multiple submitters myofibrillar myopathy 5 ⚠
p.Ala208Asp Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Ala2148Thr Multiple submitters hypertrophic cardiomyopathy 26
p.Ala218Thr Multiple submitters myofibrillar myopathy 5 ⚠
p.Ala221Thr Multiple submitters myofibrillar myopathy 5 ⚠
p.Ala2252Thr Multiple submitters Cardiovascular phenotype
p.Ala225Ser Multiple submitters myofibrillar myopathy 5 ⚠
p.Ala2264Thr Multiple submitters Cardiovascular phenotype
p.Ala2357Val Multiple submitters Cardiovascular phenotype
p.Ala2360Pro Multiple submitters myofibrillar myopathy 5
p.Ala2360Thr Multiple submitters distal myopathy with posterior leg and anterior hand involvement ⚠
p.Ala236Val Multiple submitters myofibrillar myopathy 5
p.Ala2408Thr Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Ala2442Ser Multiple submitters distal myopathy with posterior leg and anterior hand involvement ⚠
p.Ala2450Thr Multiple submitters hypertrophic cardiomyopathy 26 ⚠
p.Ala2485Val Multiple submitters FLNC-related disorder
p.Ala2533Pro Multiple submitters myofibrillar myopathy 5
p.Ala2537Asp Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Ala2635Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala266Asp Multiple submitters distal myopathy with posterior leg and anterior hand involvement ⚠
p.Ala266Thr Multiple submitters Cardiovascular phenotype
p.Ala280Thr Multiple submitters hypertrophic cardiomyopathy 26
p.Ala296Val Multiple submitters myofibrillar myopathy 5 ⚠
p.Ala305Thr Multiple submitters Cardiovascular phenotype ⚠
p.Ala305Val Multiple submitters distal myopathy with posterior leg and anterior hand involvement ⚠
p.Ala324Thr Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Ala32Val Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Ala345Ser Multiple submitters Cardiovascular phenotype ⚠
p.Ala392Asp Multiple submitters myofibrillar myopathy 5 ⚠
p.Ala403Glu Multiple submitters hypertrophic cardiomyopathy 26 ⚠
p.Ala403Val Multiple submitters Cardiovascular phenotype
p.Ala528Thr Multiple submitters distal myopathy with posterior leg and anterior hand involvement ⚠
p.Ala555Thr Multiple submitters Cardiovascular phenotype
p.Ala639Ser Multiple submitters myofibrillar myopathy 5
p.Ala639Thr Multiple submitters myofibrillar myopathy 5 ⚠
p.Ala661Thr Multiple submitters hypertrophic cardiomyopathy 26
p.Ala688Ser Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Ala688Val Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Ala709Ser Multiple submitters myofibrillar myopathy 5 ⚠
p.Ala72Thr Multiple submitters distal myopathy with posterior leg and anterior hand involvement ⚠
p.Ala72Val Multiple submitters hypertrophic cardiomyopathy 26
p.Ala794Thr Multiple submitters distal myopathy with posterior leg and anterior hand involvement ⚠
p.Ala806Thr Multiple submitters myofibrillar myopathy 5
p.Ala813Val Multiple submitters
p.Ala815Thr Multiple submitters hypertrophic cardiomyopathy 26
p.Ala838Gly Multiple submitters myofibrillar myopathy 5
p.Ala854Thr Multiple submitters distal myopathy with posterior leg and anterior hand involvement ⚠
p.Ala941Thr Multiple submitters hypertrophic cardiomyopathy 26 ⚠
p.Ala985Thr Multiple submitters myofibrillar myopathy 5
p.Ala993Val Multiple submitters Cardiovascular phenotype
p.Arg1002Trp Multiple submitters myofibrillar myopathy 5
p.Arg1009Gln Multiple submitters hypertrophic cardiomyopathy 26 ⚠
p.Arg1027Cys Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Arg1027His Multiple submitters myofibrillar myopathy 5 ⚠
p.Arg1027Leu Multiple submitters Cardiovascular phenotype
p.Arg109Ser Multiple submitters hypertrophic cardiomyopathy 26
p.Arg1150Trp Multiple submitters myofibrillar myopathy 5
p.Arg1159Gly Multiple submitters Cardiovascular phenotype
p.Arg1159Trp Multiple submitters hypertrophic cardiomyopathy 26
p.Arg1167Cys Multiple submitters myofibrillar myopathy 5 ⚠
p.Arg1267Gly Multiple submitters hypertrophic cardiomyopathy 26 ⚠
p.Arg1291Cys Multiple submitters hypertrophic cardiomyopathy 26
p.Arg1352Leu Multiple submitters distal myopathy with posterior leg and anterior hand involvement ⚠
p.Arg1354Gly Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Arg1376= Multiple submitters hypertrophic cardiomyopathy 26
p.Arg1426Trp Multiple submitters Cardiovascular phenotype
p.Arg1458Gly Multiple submitters myofibrillar myopathy 5
p.Arg1494Gln Multiple submitters myofibrillar myopathy 5 ⚠
p.Arg1526His Multiple submitters Cardiovascular phenotype ⚠
p.Arg1543Pro Multiple submitters ⚠
p.Arg1543Trp Multiple submitters myofibrillar myopathy 5 ⚠
p.Arg1567Leu Multiple submitters myofibrillar myopathy 5
p.Arg157Gly Multiple submitters myofibrillar myopathy 5
p.Arg1591Gln Multiple submitters Cardiovascular phenotype
p.Arg1609Gly Multiple submitters myofibrillar myopathy 5 ⚠
p.Arg164Gln Multiple submitters myofibrillar myopathy 5 ⚠
p.Arg164Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg1657Gly Multiple submitters Dilated Cardiomyopathy, Dominant
p.Arg1719Cys Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Arg1751Cys Multiple submitters myofibrillar myopathy 5 ⚠
p.Arg1811Leu Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Arg1811Trp Multiple submitters hypertrophic cardiomyopathy 26
p.Arg1931His Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Arg1982His Multiple submitters Cardiovascular phenotype ⚠
p.Arg1999Gln Multiple submitters myofibrillar myopathy 5 ⚠
p.Arg2045Trp Multiple submitters Cardiovascular phenotype
p.Arg2067Cys Multiple submitters Cardiovascular phenotype
p.Arg2067His Multiple submitters myofibrillar myopathy 5 ⚠
p.Arg2133Ser Multiple submitters Cardiovascular phenotype
p.Arg2140Gln Multiple submitters Cardiovascular phenotype
p.Arg2141Trp Multiple submitters Cardiovascular phenotype
p.Arg2173Cys Multiple submitters Cardiovascular phenotype
p.Arg2173Gly Multiple submitters myofibrillar myopathy 5
p.Arg2173His Multiple submitters Cardiovascular phenotype
p.Arg2180His Multiple submitters myofibrillar myopathy 5
p.Arg2180Pro Multiple submitters Cardiovascular phenotype
p.Arg2187Cys Multiple submitters myofibrillar myopathy 5
p.Arg2187His Multiple submitters Cardiovascular phenotype
p.Arg2187Leu Multiple submitters myofibrillar myopathy 5
p.Arg2190Cys Multiple submitters hypertrophic cardiomyopathy 26
p.Arg2190Ser Multiple submitters myofibrillar myopathy 5
p.Arg2197Gln Multiple submitters Cardiovascular phenotype
p.Arg2197Trp Multiple submitters myofibrillar myopathy 5
p.Arg219Gln Multiple submitters distal myopathy with posterior leg and anterior hand involvement ⚠
p.Arg219Gly Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Arg2203Cys Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Arg2203Gly Multiple submitters myofibrillar myopathy 5
p.Arg2206Gln Multiple submitters Cardiovascular phenotype
p.Arg2206Trp Multiple submitters Cardiovascular phenotype
p.Arg2228Trp Multiple submitters distal myopathy with posterior leg and anterior hand involvement ⚠
p.Arg2230Cys Multiple submitters Cardiovascular phenotype
p.Arg2239Gln Multiple submitters hypertrophic cardiomyopathy 26
p.Arg2239Gly Multiple submitters myofibrillar myopathy 5
p.Arg2239Leu Multiple submitters Cardiovascular phenotype
p.Arg2293Cys Multiple submitters distal myopathy with posterior leg and anterior hand involvement ⚠
p.Arg2318Leu Multiple submitters myofibrillar myopathy 5 ⚠
p.Arg2467Gly Multiple submitters myofibrillar myopathy 5 ⚠
p.Arg2553Gln Multiple submitters distal myopathy with posterior leg and anterior hand involvement ⚠
p.Arg2596Lys Multiple submitters Cardiovascular phenotype
p.Arg2621Pro Multiple submitters distal myopathy with posterior leg and anterior hand involvement ⚠
p.Arg2641Gln Multiple submitters hypertrophic cardiomyopathy 26
p.Arg2641Trp Multiple submitters hypertrophic cardiomyopathy 26 ⚠
p.Arg2690Gln Multiple submitters myofibrillar myopathy 5
p.Arg269Gln Multiple submitters Cardiovascular phenotype
p.Arg334His Multiple submitters Cardiovascular phenotype
p.Arg361His Multiple submitters distal myopathy with posterior leg and anterior hand involvement ⚠
p.Arg437Cys Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Arg437Gly Multiple submitters Cardiovascular phenotype ⚠
p.Arg461His Multiple submitters Cardiovascular phenotype ⚠
p.Arg482Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg490Cys Multiple submitters Cardiovascular phenotype ⚠
p.Arg490Leu Multiple submitters myofibrillar myopathy 5 ⚠
p.Arg558Cys Multiple submitters myofibrillar myopathy 5
p.Arg575Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg575Trp Multiple submitters distal myopathy with posterior leg and anterior hand involvement ⚠
p.Arg62His Multiple submitters myofibrillar myopathy 5 ⚠
p.Arg62Ser Multiple submitters Cardiovascular phenotype
p.Arg650Gln Multiple submitters distal myopathy with posterior leg and anterior hand involvement ⚠
p.Arg695Cys Multiple submitters myofibrillar myopathy 5
p.Arg695Leu Multiple submitters myofibrillar myopathy 5
p.Arg727Cys Multiple submitters myofibrillar myopathy 5
p.Arg755Gln Multiple submitters Cardiovascular phenotype ⚠
p.Arg755Trp Multiple submitters Cardiovascular phenotype ⚠
p.Arg81Cys Multiple submitters myofibrillar myopathy 5
p.Arg840Cys Multiple submitters Cardiovascular phenotype
p.Arg84Gly Multiple submitters myofibrillar myopathy 5
p.Arg916Trp Multiple submitters Cardiovascular phenotype
p.Arg991Gln Multiple submitters myofibrillar myopathy 5
p.Asn1286Thr Multiple submitters myofibrillar myopathy 5
p.Asn1294Ile Multiple submitters Cardiovascular phenotype
p.Asn1294Lys Multiple submitters myofibrillar myopathy 5
p.Asn1294Ser Multiple submitters myofibrillar myopathy 5 ⚠
p.Asn1307Ser Multiple submitters Cardiovascular phenotype
p.Asn1369Asp Multiple submitters myofibrillar myopathy 5 ⚠
p.Asn1496Asp Multiple submitters Cardiovascular phenotype
p.Asn1496Ser Multiple submitters myofibrillar myopathy 5
p.Asn1593Lys Multiple submitters myofibrillar myopathy 5
p.Asn1727Ser Multiple submitters myofibrillar myopathy 5 ⚠
p.Asn180Ser Multiple submitters cardiomyopathy ⚠
p.Asn1817del Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Asn1817Lys Multiple submitters myofibrillar myopathy 5 ⚠
p.Asn1817Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Asn1875Ser Multiple submitters Cardiovascular phenotype ⚠
p.Asn1909del Multiple submitters myofibrillar myopathy 5
p.Asn1958Tyr Multiple submitters hypertrophic cardiomyopathy 26
p.Asn197Ser Multiple submitters Cardiovascular phenotype
p.Asn1998Lys Multiple submitters distal myopathy with posterior leg and anterior hand involvement ⚠
p.Asn1998Ser Multiple submitters Cardiovascular phenotype
p.Asn2087Ser Multiple submitters hypertrophic cardiomyopathy 26
p.Asn244Asp Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Asn244Ser Multiple submitters myofibrillar myopathy 5
p.Asn2532Lys Multiple submitters myofibrillar myopathy 5
p.Asn2570Ser Multiple submitters hypertrophic cardiomyopathy 26 ⚠
p.Asn2570Thr Multiple submitters hypertrophic cardiomyopathy 26
p.Asn2689Ile Multiple submitters hypertrophic cardiomyopathy 26 ⚠
p.Asn2693Ile Multiple submitters Cardiovascular phenotype
p.Asn290Asp Multiple submitters Dilated Cardiomyopathy, Dominant
p.Asn290Ser Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Asn329Lys Multiple submitters Cardiovascular phenotype
p.Asn390His Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Asn473Ser Multiple submitters Cardiovascular phenotype
p.Asn748Lys Multiple submitters hypertrophic cardiomyopathy 26
p.Asn782Asp Multiple submitters hypertrophic cardiomyopathy 26
p.Asn824Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Asn826del Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Asn826Lys Multiple submitters myofibrillar myopathy 5
p.Asn849Ser Multiple submitters Cardiovascular phenotype
p.Asn91Asp Multiple submitters cardiomyopathy
p.Asn91Lys Multiple submitters Cardiovascular phenotype
p.Asn91Ser Multiple submitters FLNC-related disorder
p.Asn91Thr Multiple submitters hypertrophic cardiomyopathy 26
p.Asn923His Multiple submitters Cardiovascular phenotype
p.Asn959Ser Multiple submitters myofibrillar myopathy 5 ⚠
p.Asp1043Glu Multiple submitters hypertrophic cardiomyopathy 26
p.Asp1086Val Multiple submitters Cardiovascular phenotype
p.Asp1114Gly Multiple submitters distal myopathy with posterior leg and anterior hand involvement ⚠
p.Asp1249Asn Multiple submitters myofibrillar myopathy 5
p.Asp1498Tyr Multiple submitters hypertrophic cardiomyopathy 26
p.Asp150Asn Multiple submitters distal myopathy with posterior leg and anterior hand involvement ⚠
p.Asp1568Asn Multiple submitters myofibrillar myopathy 5
p.Asp1595Asn Multiple submitters myofibrillar myopathy 5
p.Asp1635Asn Multiple submitters Cardiovascular phenotype
p.Asp1736Glu Multiple submitters distal myopathy with posterior leg and anterior hand involvement ⚠
p.Asp1816Asn Multiple submitters hypertrophic cardiomyopathy 26 ⚠
p.Asp184Asn Multiple submitters myofibrillar myopathy 5
p.Asp1886His Multiple submitters
p.Asp1908Glu Multiple submitters Cardiovascular phenotype ⚠
p.Asp1933Asn Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Asp1933Glu Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Asp1973Glu Multiple submitters myofibrillar myopathy 5 ⚠
p.Asp2093Ala Multiple submitters distal myopathy with posterior leg and anterior hand involvement ⚠
p.Asp2093Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp2116Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp2116Glu Multiple submitters Cardiovascular phenotype
p.Asp226Glu Multiple submitters myofibrillar myopathy 5
p.Asp227Asn Multiple submitters hypertrophic cardiomyopathy 26
p.Asp2406Val Multiple submitters myofibrillar myopathy 5 ⚠
p.Asp2441Gly Multiple submitters hypertrophic cardiomyopathy 26 ⚠
p.Asp2504Asn Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Asp2551His Multiple submitters Cardiovascular phenotype ⚠
p.Asp2703fs Multiple submitters Cardiovascular phenotype
p.Asp304Asn Multiple submitters Cardiovascular phenotype
p.Asp316His Multiple submitters hypertrophic cardiomyopathy 26
p.Asp374Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp409Asn Multiple submitters hypertrophic cardiomyopathy 26
p.Asp416Asn Multiple submitters myofibrillar myopathy 5
p.Asp530Val Multiple submitters myofibrillar myopathy 5 ⚠
p.Asp591Asn Multiple submitters Cardiovascular phenotype
p.Asp59Gly Multiple submitters myofibrillar myopathy 5
p.Asp620Asn Multiple submitters myofibrillar myopathy 5 ⚠
p.Asp623Asn Multiple submitters myofibrillar myopathy 5 ⚠
p.Asp623Glu Multiple submitters distal myopathy with posterior leg and anterior hand involvement ⚠
p.Asp63Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Asp645Ala Multiple submitters distal myopathy with posterior leg and anterior hand involvement ⚠
p.Asp646del Multiple submitters distal myopathy with posterior leg and anterior hand involvement
p.Asp646His Multiple submitters Cardiovascular phenotype ⚠
p.Asp66Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Asp701Glu Multiple submitters distal myopathy with posterior leg and anterior hand involvement ⚠
p.Asp715Asn Multiple submitters Cardiovascular phenotype ⚠
p.Asp723Tyr Multiple submitters myofibrillar myopathy 5
p.Asp820Val Multiple submitters hypertrophic cardiomyopathy 26 ⚠
p.Asp903Val Multiple submitters distal myopathy with posterior leg and anterior hand involvement ⚠
p.Asp949His Multiple submitters distal myopathy with posterior leg and anterior hand involvement ⚠
p.Cys1117Arg Multiple submitters hypertrophic cardiomyopathy 26 ⚠
p.Cys1180Arg Multiple submitters Cardiovascular phenotype ⚠
p.Cys1180Ser Multiple submitters Cardiovascular phenotype ⚠
p.Cys1348Tyr Multiple submitters Cardiovascular phenotype ⚠
p.Cys1680Ser Multiple submitters myofibrillar myopathy 5 ⚠
p.Cys1735Trp Multiple submitters hypertrophic cardiomyopathy 26