MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:8477
Name:MYOPATHY, DISTAL, 4
Definition:
Alternative IDs:DO:DOID:11720
ParentIDs:MESH:D049310
TreeNumbers:C05.651.534.500.074/614065 |C10.668.491.175.500.074/614065 |C16.320.577.074/614065
Synonyms:MPD4 |WILLIAMS DISTAL MYOPATHY
Slim Mappings:Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease
Reference: MedGen: 614065
MeSH: 614065
OMIM: 614065;
MSeqDR LSDB:  
Genes: COL11A2; COL2A1; FLNC;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001430Abnormality of the calf musculature
3 HP:0001638Cardiomyopathy
4 HP:0008944Distal lower limb amyotrophy
5 HP:0007149Distal upper limb amyotrophy
6 HP:0001265Hyporeflexia
7 HP:0008180Mildly elevated creatine phosphokinase
8 HP:0001324Muscle weakness
NAMDC:  Muscle weakness: diffuse
9 HP:0003198Myopathy
NAMDC:  Myopathy
10 HP:0003677Slow progression
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_183357.3(ADCY5):c.1368G>A (p.Met456Ile)111ADCY5Uncertain significance1286137967RCV000714607; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632733123066667123066667NC_000003.11:g.123066667C>T-
NC_000007.13:g.(?_128470692)_(128694824_?)dup-1ATP6V1F;FLNC;IRF5;KCP;TNPO3Uncertain significance-1RCV001879723|RCV001902472; NMONDO:MONDO:0012034,MedGen:C1842062,OMIM:608423, Orphanet:55595|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; 7128470692128694824-1-
NC_000007.13:g.(?_128469483)_(128500328_?)del2318FLNCPathogenic-1RCV001384408; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128469483128500328-1-
NC_000007.14:g.(?_128830618)_(128858543_?)del2318FLNCPathogenic-1RCV000708544; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128470672128498597-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NC_000007.13:g.(?_128470672)_(128498597_?)dup2318FLNCUncertain significance-1RCV001345438; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128470672128498597-1-
NC_000007.14:g.(?_128830628)_(128858533_?)dup2318FLNCUncertain significance-1RCV001031213; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128470682128498587-1-
NC_000007.13:g.(?_128470682)_(128498587_?)del2318FLNCPathogenic-1RCV001384407; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128470682128498587-1-
NC_000007.13:g.(?_128470692)_(128482448_?)dup2318FLNCUncertain significance-1RCV003107410; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128470692128482448-
NC_000007.13:g.(?_128470692)_(128498577_?)del2318FLNCPathogenic-1RCV003107413; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128470692128498577-
NM_001458.5(FLNC):c.4A>G (p.Met2Val)2318FLNCUncertain significance-1RCV003027957; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128470695128470695NC_000007.13:g.128470695A>G-
NM_001458.5(FLNC):c.13A>G (p.Ser5Gly)2318FLNCUncertain significance2128932075RCV001978534; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128470704128470704128470704-
NM_001458.5(FLNC):c.15C>A (p.Ser5Arg)2318FLNCConflicting interpretations of pathogenicity759632330RCV000649110|RCV002397288; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284707061284707067:g.128470706C>AClinGen:CA4473948C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.16G>C (p.Gly6Arg)2318FLNCUncertain significance1284761356RCV000689615; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128470707128470707NC_000007.13:g.128470707G>C-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.16G>A (p.Gly6Ser)2318FLNCUncertain significance1284761356RCV001040543; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284707071284707077:g.128470707G>A-
NM_001458.5(FLNC):c.19T>G (p.Tyr7Asp)2318FLNCUncertain significance896068048RCV001051688|RCV002416389; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284707101284707107:g.128470710T>G-
NM_001458.5(FLNC):c.21C>T (p.Tyr7=)2318FLNCLikely benign201179596RCV002202309; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128470712128470712128470712-
NM_001458.5(FLNC):c.22T>C (p.Ser8Pro)2318FLNCBenign/Likely benign544875797RCV000954827|RCV001683701|RCV002445110; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:C3661900|MedGen:CN23073671284707131284707137:g.128470713T>C-
NM_001458.5(FLNC):c.31G>A (p.Gly11Ser)2318FLNCConflicting interpretations of pathogenicity370512642RCV000649116|RCV001592807|RCV002325297; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|MedGen:CN23073671284707221284707227:g.128470722G>AClinGen:CA4473953C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.31G>T (p.Gly11Cys)2318FLNCUncertain significance370512642RCV001064420|RCV002320324; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284707221284707227:g.128470722G>T-
NM_001458.5(FLNC):c.33C>A (p.Gly11=)2318FLNCLikely benign-1RCV003032475; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128470724128470724-
NM_001458.5(FLNC):c.37G>A (p.Gly13Ser)2318FLNCUncertain significance760318519RCV000707188; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128470728128470728NC_000007.13:g.128470728G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.37G>C (p.Gly13Arg)2318FLNCUncertain significance760318519RCV001361948; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128470728128470728128470728-
NM_001458.5(FLNC):c.43G>A (p.Gly15Ser)2318FLNCUncertain significance1263243888RCV001297449; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128470734128470734128470734-
NM_001458.5(FLNC):c.44G>T (p.Gly15Val)2318FLNCUncertain significance766081127RCV001234929|RCV002327566|RCV003145451; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MedGen:C366190071284707351284707357:g.128470735G>T-
NM_001458.5(FLNC):c.45C>T (p.Gly15=)2318FLNCLikely benign2128932096RCV001962414; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128470736128470736128470736-
NM_001458.5(FLNC):c.46dup (p.Asp16fs)2318FLNCLikely pathogenic-1RCV003147860|RCV003147859|RCV003147861; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128470736128470737-
NM_001458.5(FLNC):c.46G>T (p.Asp16Tyr)2318FLNCUncertain significance1807849615RCV001045869; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284707371284707377:g.128470737G>T-
NM_001458.5(FLNC):c.49G>A (p.Glu17Lys)2318FLNCUncertain significance-1RCV003069540|RCV003455701; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:6095247128470740128470740NC_000007.13:g.128470740G>A-
NM_001458.5(FLNC):c.51G>A (p.Glu17=)2318FLNCLikely benign753490528RCV000921046|RCV002336913; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284707421284707427:g.128470742G>A-
NM_001458.5(FLNC):c.57C>T (p.Asp19=)2318FLNCLikely benign754468596RCV001478798; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128470748128470748128470748-
NM_001458.5(FLNC):c.59A>C (p.Glu20Ala)2318FLNCUncertain significance1478918808RCV000532482; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128470750128470750NC_000007.13:g.128470750A>CClinGen:CA369215548C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.60G>A (p.Glu20=)2318FLNCLikely benign-1RCV002867018; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128470751128470751-
NM_001458.5(FLNC):c.61A>G (p.Met21Val)2318FLNCConflicting interpretations of pathogenicity1174042673RCV001366571|RCV003365369; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128470752128470752128470752-
NM_001458.5(FLNC):c.64C>T (p.Pro22Ser)2318FLNCConflicting interpretations of pathogenicity368812043RCV000816369|RCV003344073; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284707551284707557:g.128470755C>T-
NM_001458.5(FLNC):c.65C>G (p.Pro22Arg)2318FLNCUncertain significance-1RCV002700908; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128470756128470756NC_000007.13:g.128470756C>G-
NM_001458.5(FLNC):c.65C>T (p.Pro22Leu)2318FLNCUncertain significance-1RCV002701483; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128470756128470756NC_000007.13:g.128470756C>T-
NM_001458.5(FLNC):c.66G>A (p.Pro22=)2318FLNCLikely benign1585147676RCV001425219; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284707571284707577:g.128470757G>A-
NM_001458.5(FLNC):c.71C>A (p.Thr24Lys)2318FLNCUncertain significance1251048006RCV001234460; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284707621284707627:g.128470762C>A-
NM_001458.5(FLNC):c.72G>A (p.Thr24=)2318FLNCUncertain significance-1RCV002608552; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128470763128470763-
NM_001458.5(FLNC):c.76A>G (p.Lys26Glu)2318FLNCUncertain significance1562988843RCV000689852|RCV003163138; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128470767128470767NC_000007.13:g.128470767A>G-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.77A>C (p.Lys26Thr)2318FLNCUncertain significance2128932111RCV001944866; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128470768128470768128470768-
NM_001458.5(FLNC):c.81C>A (p.Asp27Glu)2318FLNCUncertain significance1318316375RCV001062805|RCV002429700|RCV002482067; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MONDO:MONDO:0012289,MedGen:C18371284707721284707727:g.128470772C>A-
NM_001458.5(FLNC):c.84G>A (p.Leu28=)2318FLNCLikely benign372154508RCV002095058|RCV002409488; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128470775128470775128470775-
NM_001458.5(FLNC):c.86C>T (p.Ala29Val)2318FLNCUncertain significance2128932114RCV002043012; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128470777128470777128470777-
NM_001458.5(FLNC):c.88G>A (p.Glu30Lys)2318FLNCUncertain significance2128932116RCV002006718; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128470779128470779128470779-
NM_001458.5(FLNC):c.92A>T (p.Asp31Val)2318FLNCUncertain significance-1RCV003055230; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128470783128470783NC_000007.13:g.128470783A>T-
NM_001458.5(FLNC):c.95C>T (p.Ala32Val)2318FLNCUncertain significance2128932120RCV001372840; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128470786128470786128470786-
NM_001458.5(FLNC):c.96G>A (p.Ala32=)2318FLNCLikely benign368239688RCV000551745|RCV001702515|RCV001701078|RCV002377143; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|MedGen:CN169374|MedGen:CN2307367128470787128470787NC_000007.13:g.128470787G>AClinGen:CA4473960C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.100T>G (p.Trp34Gly)2318FLNCUncertain significance-1RCV002295128; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128470791128470791128470791-
NM_001458.5(FLNC):c.102G>A (p.Trp34Ter)2318FLNCPathogenic2128932126RCV001932047; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128470793128470793128470793-
NM_001458.5(FLNC):c.108G>A (p.Lys36=)2318FLNCLikely benign1807852313RCV001414934; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128470799128470799128470799-
NM_001458.5(FLNC):c.109A>G (p.Ile37Val)2318FLNCUncertain significance-1RCV002806729; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128470800128470800NC_000007.13:g.128470800A>G-
NM_001458.5(FLNC):c.110T>G (p.Ile37Ser)2318FLNCUncertain significance-1RCV002296306; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128470801128470801128470801-
NM_001458.5(FLNC):c.125T>C (p.Phe42Ser)2318FLNCUncertain significance777706683RCV000649158; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128470816128470816NC_000007.13:g.128470816T>CClinGen:CA4473961C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.125T>G (p.Phe42Cys)2318FLNCUncertain significance777706683RCV000795545|RCV002307617|RCV002424820; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN517202|MedGen:CN23073671284708161284708167:g.128470816T>G-
NM_001458.5(FLNC):c.126C>T (p.Phe42=)2318FLNCLikely benign746857110RCV001465868; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128470817128470817128470817-
NM_001458.5(FLNC):c.127A>C (p.Thr43Pro)2318FLNCUncertain significance1807852947RCV001071017; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284708181284708187:g.128470818A>C-
NM_001458.5(FLNC):c.130C>T (p.Arg44Cys)2318FLNCUncertain significance2128932137RCV001360757; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128470821128470821128470821-
NM_001458.5(FLNC):c.131G>T (p.Arg44Leu)2318FLNCUncertain significance1807853136RCV001042952; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284708221284708227:g.128470822G>T-
NM_001458.5(FLNC):c.131G>C (p.Arg44Pro)2318FLNCUncertain significance-1RCV002791687; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128470822128470822NC_000007.13:g.128470822G>C-
NM_001458.5(FLNC):c.133T>A (p.Trp45Arg)2318FLNCUncertain significance-1RCV002851715; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128470824128470824NC_000007.13:g.128470824T>A-
NM_001458.5(FLNC):c.140A>G (p.Asn47Ser)2318FLNCUncertain significance770861991RCV000798884|RCV001731932|RCV002388463; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN23073671284708311284708317:g.128470831A>G-
NM_001458.5(FLNC):c.141T>C (p.Asn47=)2318FLNCLikely benign1331955110RCV000549487|RCV002395435; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128470832128470832NC_000007.13:g.128470832T>CClinGen:CA457845982C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.142_162dup (p.Glu48_Gly54dup)2318FLNCUncertain significance1807853629RCV001040076; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284708321284708337:g.128470832_128470833insGAGCACCTCAAGTGCGTGGGC-
NM_001458.5(FLNC):c.146_147insT (p.Leu50fs)2318FLNCPathogenic2128932142RCV001388073; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128470837128470838128470837-
NM_001458.5(FLNC):c.147C>T (p.His49=)2318FLNCBenign3734972RCV000117066|RCV000711677|RCV001520067|RCV002390262; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN23073671284708381284708387:g.128470838C>TClinGen:CA152835CN169374 not specified;
NM_001458.5(FLNC):c.147delinsTCT (p.Lys51fs)2318FLNCPathogenic1562988883RCV000687166; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284708381284708387:g.128470838_128470839insCT-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.148C>G (p.Leu50Val)2318FLNCUncertain significance-1RCV003052274; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128470839128470839NC_000007.13:g.128470839C>G-
NM_001458.5(FLNC):c.152A>G (p.Lys51Arg)2318FLNCUncertain significance1807854319RCV001369533|RCV002404879; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128470843128470843128470843-
NM_001458.5(FLNC):c.156dup (p.Val53fs)2318FLNCPathogenic2128932148RCV001386399; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128470846128470847128470846-
NM_001458.5(FLNC):c.161G>T (p.Gly54Val)2318FLNCUncertain significance1032152678RCV001217746; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284708521284708527:g.128470852G>T-
NM_001458.5(FLNC):c.161G>A (p.Gly54Asp)2318FLNCUncertain significance1032152678RCV001240614|RCV002393619; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284708521284708527:g.128470852G>A-
NM_001458.5(FLNC):c.163A>C (p.Lys55Gln)2318FLNCUncertain significance769870285RCV001924369; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128470854128470854128470854-
NM_001458.5(FLNC):c.170T>C (p.Leu57Pro)2318FLNCUncertain significance1585147774RCV000795176; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN23931071284708611284708617:g.128470861T>C-
NM_001458.5(FLNC):c.174C>G (p.Thr58=)2318FLNCLikely benign763488290RCV000547385|RCV000614866|RCV002404522|RCV003326460; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN169374|MedGen:CN230736|MedGen:C366190071284708651284708657:g.128470865C>GClinGen:CA4473967C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.174C>A (p.Thr58=)2318FLNCLikely benign763488290RCV000936008|RCV003323763; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN16937471284708651284708657:g.128470865C>A-
NM_001458.5(FLNC):c.176A>G (p.Asp59Gly)2318FLNCUncertain significance1164296903RCV000691568|RCV001566083; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN51720271284708671284708677:g.128470867A>G-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.179T>A (p.Leu60Gln)2318FLNCUncertain significance1807855891RCV001225178; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284708701284708707:g.128470870T>A-
NM_001458.5(FLNC):c.179T>G (p.Leu60Arg)2318FLNCUncertain significance-1RCV002302905; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128470870128470870128470870-
NM_001458.5(FLNC):c.181C>T (p.Gln61Ter)2318FLNCPathogenic2128932161RCV001385393; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128470872128470872128470872-
NM_001458.5(FLNC):c.185G>A (p.Arg62His)2318FLNCUncertain significance1308771065RCV001057245|RCV002409466; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284708761284708767:g.128470876G>A-
NM_001458.5(FLNC):c.192C>G (p.Leu64=)2318FLNCLikely benign1172570582RCV002085989; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128470883128470883128470883-
NM_001458.5(FLNC):c.196G>T (p.Asp66Tyr)2318FLNCUncertain significance1373245749RCV001758758|RCV002421265|RCV002539142; NMedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128470887128470887128470887-
NM_001458.5(FLNC):c.197A>G (p.Asp66Gly)2318FLNCUncertain significance-1RCV002819834; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128470888128470888NC_000007.13:g.128470888A>G-
NM_001458.5(FLNC):c.198C>T (p.Asp66=)2318FLNCLikely benign764772679RCV001398392; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128470889128470889128470889-
NM_001458.5(FLNC):c.200G>T (p.Gly67Val)2318FLNCUncertain significance1807857687RCV001305955|RCV003294240; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128470891128470891128470891-
NM_001458.5(FLNC):c.204C>G (p.Leu68=)2318FLNCLikely benign752213633RCV001405497|RCV002420904; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128470895128470895128470895-
NM_001458.5(FLNC):c.205C>T (p.Arg69Trp)2318FLNCConflicting interpretations of pathogenicity758342140RCV000690285|RCV002422491; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284708961284708967:g.128470896C>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.210C>G (p.Leu70=)2318FLNCLikely benign777794633RCV002185549; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128470901128470901128470901-
NM_001458.5(FLNC):c.210C>T (p.Leu70=)2318FLNCLikely benign-1RCV002632981; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128470901128470901-
NM_001458.5(FLNC):c.211A>G (p.Ile71Val)2318FLNCUncertain significance1250893880RCV001555594|RCV001859377; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128470902128470902128470902-
NM_001458.5(FLNC):c.212T>C (p.Ile71Thr)2318FLNCUncertain significance1554396387RCV000532536|RCV002420500; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284709031284709037:g.128470903T>CClinGen:CA369216340C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.213C>T (p.Ile71=)2318FLNCLikely benign2128932186RCV001407604; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128470904128470904128470904-
NM_001458.5(FLNC):c.214G>A (p.Ala72Thr)2318FLNCUncertain significance751548628RCV001864799; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128470905128470905128470905-
NM_001458.5(FLNC):c.215C>T (p.Ala72Val)2318FLNCUncertain significance893814984RCV001937727; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128470906128470906128470906-
NM_001458.5(FLNC):c.216G>A (p.Ala72=)2318FLNCLikely benign757077955RCV000934578; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN23931071284709071284709077:g.128470907G>A-
NM_001458.5(FLNC):c.222C>G (p.Leu74=)2318FLNCLikely benign965256172RCV001465826|RCV003298810; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128470913128470913128470913-
NM_001458.5(FLNC):c.227T>G (p.Val76Gly)2318FLNCUncertain significance1011301530RCV001567243|RCV001866005; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128470918128470918128470918-
NM_001458.5(FLNC):c.231_232insGTATGC (p.Leu77_Ser78insValCys)2318FLNCUncertain significance2128932197RCV002000537; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128470921128470922128470921-
NM_001458.5(FLNC):c.231C>T (p.Leu77=)2318FLNCLikely benign-1RCV002770339; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128470922128470922-
NM_001458.5(FLNC):c.232A>C (p.Ser78Arg)2318FLNCConflicting interpretations of pathogenicity746082496RCV001042008|RCV002445234; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284709231284709237:g.128470923A>C-
NM_001458.5(FLNC):c.232A>G (p.Ser78Gly)2318FLNCUncertain significance746082496RCV001754782|RCV001868432; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128470923128470923128470923-
NM_001458.5(FLNC):c.234_235insTCGTATGCAGCTCGTATG (p.Ser78_Gln79insSerTyrAlaAlaArgMet)2318FLNCUncertain significance2128932203RCV002013080; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128470925128470926128470925-
NM_001458.5(FLNC):c.241C>T (p.Arg81Cys)2318FLNCUncertain significance1374458008RCV001220543; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284709321284709327:g.128470932C>T-
NM_001458.5(FLNC):c.244A>C (p.Met82Leu)2318FLNCUncertain significance2128932209RCV001919383|RCV003150471; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|Human Phenotype Ontology:HP:0001638,MONDO:MONDO7128470935128470935128470935-
NM_001458.5(FLNC):c.245T>G (p.Met82Arg)2318FLNCUncertain significance1807859917RCV001231250; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284709361284709367:g.128470936T>G-
NM_001458.5(FLNC):c.245T>A (p.Met82Lys)2318FLNCUncertain significance1807859917RCV001891179|RCV003166972; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128470936128470936128470936-
NM_001458.5(FLNC):c.246G>A (p.Met82Ile)2318FLNCUncertain significance1554396403RCV000649129; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284709371284709377:g.128470937G>AClinGen:CA369216592C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.258C>T (p.Phe86=)2318FLNCLikely benign-1RCV002426130|RCV003101999; NMedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128470949128470949-
NM_001458.5(FLNC):c.261del (p.Pro88fs)2318FLNCPathogenic2128932217RCV001384521; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128470952128470952128470951-
NM_001458.5(FLNC):c.261T>C (p.His87=)2318FLNCLikely benign-1RCV002426394|RCV003102035; NMedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128470952128470952-
NM_001458.5(FLNC):c.263C>A (p.Pro88Gln)2318FLNCUncertain significance1807860720RCV001041614; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284709541284709547:g.128470954C>A-
NM_001458.5(FLNC):c.266G>A (p.Arg89His)2318FLNCUncertain significance1554396410RCV000557513; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284709571284709577:g.128470957G>AClinGen:CA369216712C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.267C>T (p.Arg89=)2318FLNCLikely benign768740257RCV001461748; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284709581284709587:g.128470958C>T-
NM_001458.5(FLNC):c.268C>T (p.Pro90Ser)2318FLNCLikely benign1292076381RCV001976676; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128470959128470959128470959-
NM_001458.5(FLNC):c.269C>G (p.Pro90Arg)2318FLNCUncertain significance1807861341RCV001235973; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284709601284709607:g.128470960C>G-
NM_001458.5(FLNC):c.272A>C (p.Asn91Thr)2318FLNCUncertain significance886042565RCV000297343|RCV002518870; NMedGen:CN517202|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284709631284709637:g.128470963A>CClinGen:CA10604406CN169374 not specified;
NM_001458.5(FLNC):c.273C>A (p.Asn91Lys)2318FLNCUncertain significance1807861563RCV001224333|RCV003163750; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284709641284709647:g.128470964C>A-
NM_001458.5(FLNC):c.277C>T (p.Arg93Cys)2318FLNCUncertain significance762326127RCV002014216; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128470968128470968128470968-
NM_001458.5(FLNC):c.282A>G (p.Gln94=)2318FLNCBenign/Likely benign772401033RCV000692684|RCV002440459; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284709731284709737:g.128470973A>G-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.288G>A (p.Lys96=)2318FLNCLikely benign2128932227RCV002170087; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128470979128470979128470979-
NM_001458.5(FLNC):c.289C>T (p.Leu97=)2318FLNCLikely benign-1RCV002285644|RCV003101641; NMedGen:CN517202|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128470980128470980-
NM_001458.5(FLNC):c.290T>C (p.Leu97Pro)2318FLNCUncertain significance1585147935RCV000794457; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN23931071284709811284709817:g.128470981T>C-
NM_001458.5(FLNC):c.290T>G (p.Leu97Arg)2318FLNCUncertain significance1585147935RCV001349810; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128470981128470981128470981-
NM_001458.5(FLNC):c.292G>A (p.Glu98Lys)2318FLNCUncertain significance1195481399RCV001927360|RCV002440986; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128470983128470983128470983-
NM_001458.5(FLNC):c.292G>C (p.Glu98Gln)2318FLNCUncertain significance1195481399RCV001984764; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128470983128470983128470983-
NM_001458.5(FLNC):c.294G>A (p.Glu98=)2318FLNCLikely benign201839252RCV001084027|RCV000659088|RCV001700214|RCV002438466; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|MedGen:CN169374|MedGen:CN23073671284709851284709857:g.128470985G>AClinGen:CA4473990C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.301_302delinsAA (p.Ser101Asn)2318FLNCUncertain significance2128932233RCV002017202|RCV002441187|RCV003150476; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|Human Phenotype Ontology:HP:0007128470992128470993128470992-
NM_001458.5(FLNC):c.301T>C (p.Ser101Pro)2318FLNCUncertain significance-1RCV002435880|RCV003102979; NMedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128470992128470992128470992-
NM_001458.5(FLNC):c.302C>T (p.Ser101Phe)2318FLNCUncertain significance1554396416RCV000649086; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284709931284709937:g.128470993C>TClinGen:CA369216950C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.306G>A (p.Val102=)2318FLNCLikely benign-1RCV002797187; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128470997128470997-
NM_001458.5(FLNC):c.312C>T (p.Leu104=)2318FLNCLikely benign762302204RCV002134708|RCV002325644; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128471003128471003128471003-
NM_001458.5(FLNC):c.318C>G (p.Phe106Leu)2318FLNCConflicting interpretations of pathogenicity886037829RCV001394421|RCV001555793|RCV002321943; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN517202|MedGen:CN23073671284710091284710097:g.128471009C>GClinVar:427828,ClinGen:CA4473994C0007193 Primary dilated cardiomyopathy;
NM_001458.5(FLNC):c.327C>G (p.Arg109=)2318FLNCLikely benign750328194RCV002174392|RCV003161662; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128471018128471018128471018-
NM_001458.5(FLNC):c.328G>A (p.Glu110Lys)2318FLNCUncertain significance-1RCV002613573; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128471019128471019NC_000007.13:g.128471019G>A-
NM_001458.5(FLNC):c.338del (p.Lys113fs)2318FLNCPathogenic-1RCV002451894|RCV003099444; NMedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128471028128471028128471027-
NM_001458.5(FLNC):c.341T>C (p.Leu114Pro)2318FLNCUncertain significance1807864684RCV001340028|RCV001814308; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:6170477128471032128471032128471032-
NM_001458.5(FLNC):c.342C>T (p.Leu114=)2318FLNCLikely benign368032737RCV001432280; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284710331284710337:g.128471033C>T-
NM_001458.5(FLNC):c.345G>A (p.Val115=)2318FLNCLikely benign-1RCV003072273; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128471036128471036-
NM_001458.5(FLNC):c.352+3C>T2318FLNCUncertain significance750255204RCV001302095|RCV003325994; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:6170477128471046128471046128471046-
NM_001458.5(FLNC):c.352+8C>G2318FLNCLikely benign780084616RCV000437274|RCV000906490; NMedGen:CN169374|MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284710511284710517:g.128471051C>GClinGen:CA4474002CN169374 not specified;
NM_001458.5(FLNC):c.352+8C>T2318FLNCLikely benign-1RCV002711221; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128471051128471051NC_000007.13:g.128471051C>T-
NM_001458.5(FLNC):c.352+8C>A2318FLNCLikely benign-1RCV003043361; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128471051128471051NC_000007.13:g.128471051C>A-
NM_001458.5(FLNC):c.352+9C>T2318FLNCLikely benign749553028RCV000937379; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN23931071284710521284710527:g.128471052C>T-
NM_001458.5(FLNC):c.352+10G>A2318FLNCBenign/Likely benign79489893RCV000440137|RCV000554944|RCV003114565; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C366190071284710531284710537:g.128471053G>AClinGen:CA4474004C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.352+12G>A2318FLNCLikely benign-1RCV003072904; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128471055128471055NC_000007.13:g.128471055G>A-
NM_001458.5(FLNC):c.352+13G>A2318FLNCLikely benign-1RCV002614982; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128471056128471056NC_000007.13:g.128471056G>A-
NC_000007.13:g.(?_128475360)_(128478877_?)del2318FLNCPathogenic-1RCV003107414; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128475360128478877-
NM_001458.5(FLNC):c.353-13C>T2318FLNCLikely benign982648846RCV002162090; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128475367128475367128475367-
NM_001458.5(FLNC):c.353-11C>T2318FLNCLikely benign372623958RCV002103931; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128475369128475369128475369-
NM_001458.5(FLNC):c.353-11C>A2318FLNCLikely benign-1RCV002658870; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128475369128475369NC_000007.13:g.128475369C>A-
NC_000007.14:g.(?_128835316)_(128858533_?)dup2318FLNCUncertain significance-1RCV001032548; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128475370128498587-1-
NC_000007.13:g.(?_128475370)_(128478867_?)del2318FLNCLikely pathogenic-1RCV001379017; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128475370128478867-1-
NM_001458.5(FLNC):c.353-9C>T2318FLNCLikely benign778957130RCV000649191; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284753711284753717:g.128475371C>TClinGen:CA4474023C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.353-6C>T2318FLNCLikely benign748284739RCV001422030; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128475374128475374128475374-
NM_001458.5(FLNC):c.353-4G>T2318FLNCLikely benign758484139RCV002139979; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128475376128475376128475376-
NM_001458.5(FLNC):c.356G>T (p.Ser119Ile)2318FLNCUncertain significance-1RCV003043362; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128475383128475383NC_000007.13:g.128475383G>T-
NM_001458.5(FLNC):c.360G>A (p.Lys120=)2318FLNCLikely benign867399299RCV002089007|RCV003426336; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C36619007128475387128475387128475387-
NM_001458.5(FLNC):c.363C>T (p.Ala121=)2318FLNCLikely benign2128933604RCV001429309|RCV002456706; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128475390128475390128475390-
NM_001458.5(FLNC):c.365T>C (p.Ile122Thr)2318FLNCUncertain significance2128933606RCV002012318|RCV002458874; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128475392128475392128475392-
NM_001458.5(FLNC):c.366C>T (p.Ile122=)2318FLNCLikely benign369120591RCV000251103|RCV000886773|RCV001416159|RCV002450774; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128475393128475393NC_000007.13:g.128475393C>TClinGen:CA4474027CN169374 not specified;
NM_001458.5(FLNC):c.370G>T (p.Asp124Tyr)2318FLNCUncertain significance1808053038RCV001058373; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284753971284753977:g.128475397G>T-
NM_001458.5(FLNC):c.384G>A (p.Lys128=)2318FLNCLikely benign1402021655RCV001392642|RCV003284298; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128475411128475411128475411-
NM_001458.5(FLNC):c.385C>G (p.Leu129Val)2318FLNCUncertain significance-1RCV003021642; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128475412128475412NC_000007.13:g.128475412C>G-
NM_001458.5(FLNC):c.387G>A (p.Leu129=)2318FLNCLikely benign1159200587RCV000649226; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284754141284754147:g.128475414G>AClinGen:CA457846113C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.389T>A (p.Ile130Asn)2318FLNCUncertain significance-1RCV002305404; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128475416128475416128475416-
NM_001458.5(FLNC):c.398T>C (p.Leu133Pro)2318FLNCUncertain significance1808053502RCV001039266|RCV001593200; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN51720271284754251284754257:g.128475425T>C-
NM_001458.5(FLNC):c.399G>T (p.Leu133=)2318FLNCLikely benign2128933616RCV002167756; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128475426128475426128475426-
NM_001458.5(FLNC):c.400A>G (p.Ile134Val)2318FLNCConflicting interpretations of pathogenicity150285287RCV001237753|RCV002375253; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284754271284754277:g.128475427A>G-
NM_001458.5(FLNC):c.402C>G (p.Ile134Met)2318FLNCUncertain significance-1RCV003073015; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128475429128475429NC_000007.13:g.128475429C>G-
NM_001458.5(FLNC):c.405G>T (p.Trp135Cys)2318FLNCUncertain significance2128933620RCV001873049; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128475432128475432128475432-
NM_001458.5(FLNC):c.407C>T (p.Thr136Met)2318FLNCConflicting interpretations of pathogenicity748919727RCV001297749|RCV002322191; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128475434128475434128475434-
NM_001458.5(FLNC):c.408G>A (p.Thr136=)2318FLNCLikely benign370110008RCV000532090|RCV002324029; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284754351284754357:g.128475435G>AClinGen:CA4474031C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.408G>T (p.Thr136=)2318FLNCLikely benign370110008RCV002199285; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128475435128475435128475435-
NM_001458.5(FLNC):c.421T>C (p.Tyr141His)2318FLNCUncertain significance-1RCV002815860; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128475448128475448NC_000007.13:g.128475448T>C-
NM_001458.5(FLNC):c.423C>T (p.Tyr141=)2318FLNCLikely benign761354079RCV000928052|RCV003279155; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284754501284754507:g.128475450C>T-
NM_001458.5(FLNC):c.431C>T (p.Ser144Phe)2318FLNCUncertain significance1225645939RCV001982065; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128475458128475458128475458-
NM_001458.5(FLNC):c.432C>T (p.Ser144=)2318FLNCLikely benign1285077880RCV002111620; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128475459128475459128475459-
NM_001458.5(FLNC):c.432C>G (p.Ser144=)2318FLNCLikely benign-1RCV002695268; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128475459128475459-
NM_001458.5(FLNC):c.438C>T (p.Pro146=)2318FLNCLikely benign2128933631RCV002092640; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128475465128475465128475465-
NM_001458.5(FLNC):c.439A>G (p.Met147Val)2318FLNCUncertain significance539316555RCV001932303|RCV003164141; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128475466128475466128475466-
NM_001458.5(FLNC):c.444G>A (p.Trp148Ter)2318FLNCPathogenic1554397197RCV000649174; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128475471128475471NC_000007.13:g.128475471G>AClinGen:CA369219143C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.446A>T (p.Glu149Val)2318FLNCUncertain significance1808055544RCV001232950; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284754731284754737:g.128475473A>T-
NM_001458.5(FLNC):c.449A>G (p.Asp150Gly)2318FLNCUncertain significance760711912RCV000541184|RCV002291664|RCV002330944; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN517202|MedGen:CN23073671284754761284754767:g.128475476A>GClinGen:CA4474036C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.451G>A (p.Glu151Lys)2318FLNCUncertain significance1354261792RCV002026213; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128475478128475478128475478-
NM_001458.5(FLNC):c.462G>A (p.Glu154=)2318FLNCLikely benign753730559RCV001485601|RCV002342095; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128475489128475489128475489-
NM_001458.5(FLNC):c.468C>A (p.Ala156=)2318FLNCLikely benign1177374780RCV001482566; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128475495128475495128475495-
NM_001458.5(FLNC):c.469C>G (p.Arg157Gly)2318FLNCUncertain significance759739899RCV000424843|RCV001299637|RCV003224280; NMedGen:CN517202|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0012289,MedGen:C18371284754961284754967:g.128475496C>GClinGen:CA4474039CN169374 not specified;
NM_001458.5(FLNC):c.469C>T (p.Arg157Cys)2318FLNCConflicting interpretations of pathogenicity759739899RCV000704368|RCV002334377; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128475496128475496NC_000007.13:g.128475496C>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.470G>A (p.Arg157His)2318FLNCConflicting interpretations of pathogenicity752919962RCV000817620|RCV002336694|RCV002470992|RCV002501127|RCV003145194; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MONDO:MONDO:0014883,MedGen:C43171284754971284754977:g.128475497G>A-
NM_001458.5(FLNC):c.479C>T (p.Thr160Met)2318FLNCUncertain significance1357772572RCV000689336|RCV001333944|RCV003303122; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:6140657128475506128475506NC_000007.13:g.128475506C>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.480G>A (p.Thr160=)2318FLNCLikely benign369534561RCV001483320|RCV002342090; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128475507128475507128475507-
NM_001458.5(FLNC):c.480G>T (p.Thr160=)2318FLNCLikely benign-1RCV003116012; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128475507128475507-
NM_001458.5(FLNC):c.483C>T (p.Pro161=)2318FLNCLikely benign777932071RCV002116792|RCV002331726; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128475510128475510128475510-
NM_001458.5(FLNC):c.486dup (p.Gln163fs)2318FLNCPathogenic2128933653RCV001999988; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128475512128475513128475512-
NM_001458.5(FLNC):c.489G>A (p.Gln163=)2318FLNCLikely benign1382736500RCV001435622; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128475516128475516128475516-
NM_001458.5(FLNC):c.490C>T (p.Arg164Trp)2318FLNCUncertain significance1460797312RCV000702537|RCV001771994|RCV002334359|RCV002470958; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN230736|EFO:EFO_000040771284755171284755177:g.128475517C>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.491G>A (p.Arg164Gln)2318FLNCUncertain significance-1RCV002691203; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128475518128475518NC_000007.13:g.128475518G>A-
NM_001458.5(FLNC):c.492G>T (p.Arg164=)2318FLNCLikely benign751988597RCV001427492; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284755191284755197:g.128475519G>T-
NM_001458.5(FLNC):c.492G>A (p.Arg164=)2318FLNCLikely benign751988597RCV002153449; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128475519128475519128475519-
NM_001458.5(FLNC):c.517G>T (p.Val173Leu)2318FLNCUncertain significance376235207RCV000692577|RCV003372810; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284755441284755447:g.128475544G>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.519_525delinsT (p.Pro174_Gln175del)2318FLNCUncertain significance1808059318RCV001240993; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284755461284755527:g.128475547_128475552del-
NM_001458.5(FLNC):c.520C>T (p.Pro174Ser)2318FLNCUncertain significance1350019040RCV000795562; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN23931071284755471284755477:g.128475547C>T-
NM_001458.5(FLNC):c.525G>C (p.Gln175His)2318FLNCUncertain significance-1RCV003081275; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128475552128475552NC_000007.13:g.128475552G>C-
NM_001458.5(FLNC):c.528G>C (p.Leu176=)2318FLNCLikely benign2128933672RCV002155100; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128475555128475555128475555-
NM_001458.5(FLNC):c.531del (p.Ile178fs)2318FLNCPathogenic2128933676RCV001875115|RCV003355595; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN2307367128475556128475556128475555-
NM_001458.5(FLNC):c.531C>T (p.Pro177=)2318FLNCLikely benign1295139676RCV002162365; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128475558128475558128475558-
NM_001458.5(FLNC):c.532A>T (p.Ile178Phe)2318FLNCUncertain significance-1RCV002745720; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128475559128475559NC_000007.13:g.128475559A>T-
NM_001458.5(FLNC):c.535A>T (p.Thr179Ser)2318FLNCUncertain significance-1RCV002908943; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128475562128475562NC_000007.13:g.128475562A>T-
NM_001458.5(FLNC):c.543C>T (p.Phe181=)2318FLNCLikely benign2128933683RCV001398653; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128475570128475570128475570-
NM_001458.5(FLNC):c.547C>T (p.Arg183Cys)2318FLNCLikely benign369221655RCV001215055; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284755741284755747:g.128475574C>T-
NM_001458.5(FLNC):c.548G>A (p.Arg183His)2318FLNCConflicting interpretations of pathogenicity747837803RCV001042033|RCV003160281; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284755751284755757:g.128475575G>A-
NM_001458.5(FLNC):c.550G>A (p.Asp184Asn)2318FLNCUncertain significance1215344798RCV001038925|RCV002348341; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284755771284755777:g.128475577G>A-
NM_001458.5(FLNC):c.554G>A (p.Trp185Ter)2318FLNCPathogenic1585151331RCV000797334|RCV003117588; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:C366190071284755811284755817:g.128475581G>A-
NM_001458.5(FLNC):c.555G>A (p.Trp185Ter)2318FLNCPathogenic2128933685RCV002002477|RCV002344117; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128475582128475582128475582-
NM_001458.5(FLNC):c.558G>A (p.Gln186=)2318FLNCLikely benign532206394RCV001700859|RCV001724397|RCV002343795|RCV002538628; NMedGen:CN169374|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128475585128475585128475585-
NM_001458.5(FLNC):c.561C>T (p.Asp187=)2318FLNCBenign/Likely benign149474376RCV000437832|RCV000551611|RCV001712234|RCV002348187|RCV002502523; NMedGen:CN169374|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN23073671284755881284755887:g.128475588C>TClinGen:CA4474052C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.563del (p.Gly188fs)2318FLNCPathogenic2128933688RCV001387649; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128475589128475589128475588-
NM_001458.5(FLNC):c.576C>T (p.Gly192=)2318FLNCLikely benign554658261RCV001403263|RCV002354728; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284756031284756037:g.128475603C>T-
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr)2318FLNCConflicting interpretations of pathogenicity387906587RCV000022429|RCV000442836|RCV000600715|RCV001535684|RCV001384941; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0011076,MedGen:C1832370,OMIM:601419, Orphanet:363543, Orphanet:98909; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:001371284756041284756047:g.128475604G>AUniProtKB:Q14315#VAR_066212,OMIM:102565.0004,ClinGen:CA128479C3279722 614065 Myopathy, distal, 4;
NM_001458.5(FLNC):c.581_600del (p.Leu194fs)2318FLNCPathogenic-1RCV002863829; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128475605128475624NC_000007.13:g.128475608_128475627del-
NM_001458.5(FLNC):c.579C>T (p.Ala193=)2318FLNCLikely benign2128933691RCV002210291; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128475606128475606128475606-
NM_001458.5(FLNC):c.583G>A (p.Val195Met)2318FLNCUncertain significance770955703RCV001768731|RCV002032832; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128475610128475610128475610-
NM_001458.5(FLNC):c.587A>T (p.Asp196Val)2318FLNCUncertain significance2128933694RCV001371464; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128475614128475614128475614-
NM_001458.5(FLNC):c.588C>T (p.Asp196=)2318FLNCLikely benign-1RCV002814404; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128475615128475615-
NM_001458.5(FLNC):c.590A>G (p.Asn197Ser)2318FLNCUncertain significance1008787584RCV001037522|RCV002354982; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284756171284756177:g.128475617A>G-
NM_001458.5(FLNC):c.592_593del (p.Cys198fs)2318FLNCPathogenic2128933700RCV001949583; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128475619128475620128475618-
NM_001458.5(FLNC):c.594C>T (p.Cys198=)2318FLNCLikely benign375617228RCV000998904|RCV001470635|RCV002354913; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN23073671284756211284756217:g.128475621C>T-
NM_001458.5(FLNC):c.595G>A (p.Ala199Thr)2318FLNCUncertain significance1410315376RCV000684928|RCV001560873; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN5172027128475622128475622NC_000007.13:g.128475622G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.597C>T (p.Ala199=)2318FLNCBenign/Likely benign143942649RCV000244929|RCV000530980|RCV001532118|RCV002354448|RCV002485136; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C3661900|MedGen:CN23073671284756241284756247:g.128475624C>TClinGen:CA241430C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.600C>T (p.Pro200=)2318FLNCBenign/Likely benign202105410RCV000513411|RCV001086125|RCV001706629|RCV002356563|RCV003150210; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN169374|MedGen:CN23073671284756271284756277:g.128475627C>TClinGen:CA4474057C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.601G>A (p.Gly201Ser)2318FLNCUncertain significance1808062939RCV001213510|RCV002356912; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284756281284756287:g.128475628G>A-
NM_001458.5(FLNC):c.601G>C (p.Gly201Arg)2318FLNCUncertain significance-1RCV002914656; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128475628128475628NC_000007.13:g.128475628G>C-
NM_001458.5(FLNC):c.601+8G>C2318FLNCLikely benign-1RCV003073877; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128475636128475636NC_000007.13:g.128475636G>C-
NM_001458.5(FLNC):c.601+13G>T2318FLNCLikely benign1244760459RCV002081417; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128475641128475641128475641-
NM_001458.5(FLNC):c.601+17G>A2318FLNCLikely benign2128933708RCV002166122; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128475645128475645128475645-
NM_001458.5(FLNC):c.601+20C>A2318FLNCLikely benign2128933710RCV002200024; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128475648128475648128475648-
NM_001458.5(FLNC):c.602-13A>G2318FLNCLikely benign548449826RCV002121194; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477201128477201128477201-
NM_001458.5(FLNC):c.602-11C>T2318FLNCBenign371111092RCV000609279|RCV002062165; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284772031284772037:g.128477203C>TClinGen:CA4474077CN169374 not specified;
NM_001458.5(FLNC):c.602-8C>T2318FLNCLikely benign2128934052RCV002156450; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128477206128477206128477206-
NM_001458.5(FLNC):c.602-7T>A2318FLNCLikely benign-1RCV002619278; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128477207128477207NC_000007.13:g.128477207T>A-
NM_001458.5(FLNC):c.602-4C>T2318FLNCLikely benign-1RCV002666739; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128477210128477210NC_000007.13:g.128477210C>T-
NM_001458.5(FLNC):c.602-3C>T2318FLNCUncertain significance774453069RCV001346254; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477211128477211128477211-
NM_001458.5(FLNC):c.606C>G (p.Leu202=)2318FLNCUncertain significance1246016210RCV001307311; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128477218128477218128477218-
NM_001458.5(FLNC):c.609C>T (p.Cys203=)2318FLNCLikely benign1455396332RCV000649221; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284772211284772217:g.128477221C>TClinGen:CA457579851C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.609C>A (p.Cys203Ter)2318FLNCPathogenic1455396332RCV001946967; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477221128477221128477221-
NM_001458.5(FLNC):c.612C>T (p.Pro204=)2318FLNCLikely benign368103032RCV000527344|RCV002358579|RCV002263788; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MedGen:C366190071284772241284772247:g.128477224C>TClinGen:CA4474080C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.613G>A (p.Asp205Asn)2318FLNCConflicting interpretations of pathogenicity767740333RCV000539807|RCV003372750; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN2307367128477225128477225NC_000007.13:g.128477225G>AClinGen:CA4474081C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.627G>A (p.Trp209Ter)2318FLNCPathogenic-1RCV003009847; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128477239128477239NC_000007.13:g.128477239G>A-
NM_001458.5(FLNC):c.635A>G (p.Asn212Ser)2318FLNCConflicting interpretations of pathogenicity756723697RCV000699223|RCV002360787; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284772471284772477:g.128477247A>G-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.635A>T (p.Asn212Ile)2318FLNCUncertain significance756723697RCV000794758; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN23931071284772471284772477:g.128477247A>T-
NM_001458.5(FLNC):c.636C>T (p.Asn212=)2318FLNCLikely benign1370543390RCV002209694; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477248128477248128477248-
NM_001458.5(FLNC):c.642C>T (p.Pro214=)2318FLNCLikely benign2291558RCV000530478|RCV001721310|RCV002365534; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN23073671284772541284772547:g.128477254C>TClinGen:CA4474084C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.642C>G (p.Pro214=)2318FLNCLikely benign2291558RCV001446611; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128477254128477254128477254-
NM_001458.5(FLNC):c.643G>A (p.Val215Met)2318FLNCConflicting interpretations of pathogenicity754309921RCV000481861|RCV000663409|RCV000703450|RCV000765930|RCV002367659|RCV003419818; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C32771284772551284772557:g.128477255G>AClinGen:CA4474085C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.651C>T (p.Asn217=)2318FLNCLikely benign370425863RCV001458280|RCV002368402|RCV002501607|RCV003323884|RCV001816004; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3277128477263128477263128477263-
NM_001458.5(FLNC):c.652G>A (p.Ala218Thr)2318FLNCUncertain significance777415462RCV000819744|RCV002363146; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284772641284772647:g.128477264G>A-
NM_001458.5(FLNC):c.655C>T (p.Arg219Trp)2318FLNCUncertain significance931787034RCV001984942; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477267128477267128477267-
NM_001458.5(FLNC):c.658del (p.Glu220fs)2318FLNCPathogenic2128934070RCV001951159; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477268128477268128477267-
NM_001458.5(FLNC):c.656G>A (p.Arg219Gln)2318FLNCUncertain significance-1RCV002705376; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128477268128477268NC_000007.13:g.128477268G>A-
NM_001458.5(FLNC):c.658G>C (p.Glu220Gln)2318FLNCUncertain significance2128934071RCV001890072; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477270128477270128477270-
NM_001458.5(FLNC):c.661G>A (p.Ala221Thr)2318FLNCUncertain significance1585152566RCV000823401|RCV003145209; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN51720271284772731284772737:g.128477273G>A-
NM_001458.5(FLNC):c.664A>T (p.Met222Leu)2318FLNCUncertain significance2128934074RCV001366663; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128477276128477276128477276-
NM_001458.5(FLNC):c.664A>G (p.Met222Val)2318FLNCPathogenic2128934074RCV001996617; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128477276128477276128477276-
NM_001458.5(FLNC):c.665T>C (p.Met222Thr)2318FLNCPathogenic-1RCV002284052; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477277128477277128477277OMIM:102565.0011
NM_001458.5(FLNC):c.669G>A (p.Gln223=)2318FLNCLikely benign1048868093RCV001485992; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477281128477281128477281-
NM_001458.5(FLNC):c.671del (p.Gln224fs)2318FLNCPathogenic2128934076RCV001894566; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477283128477283128477282-
NM_001458.5(FLNC):c.673G>T (p.Ala225Ser)2318FLNCUncertain significance1808127026RCV001247100; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284772851284772857:g.128477285G>T-
NM_001458.5(FLNC):c.674C>T (p.Ala225Val)2318FLNCUncertain significance-1RCV003049972; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128477286128477286NC_000007.13:g.128477286C>T-
NM_001458.5(FLNC):c.675C>T (p.Ala225=)2318FLNCLikely benign780730123RCV001393516|RCV002368240; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128477287128477287128477287-
NM_001458.5(FLNC):c.675C>G (p.Ala225=)2318FLNCLikely benign780730123RCV002167324; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128477287128477287128477287-
NM_001458.5(FLNC):c.676G>A (p.Asp226Asn)2318FLNCConflicting interpretations of pathogenicity745775171RCV000649134|RCV002360623; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284772881284772887:g.128477288G>AClinGen:CA4474091C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.678C>T (p.Asp226=)2318FLNCLikely benign769791248RCV000539553|RCV001591260|RCV002367922; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN2307367128477290128477290NC_000007.13:g.128477290C>TClinGen:CA4474092C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.678C>A (p.Asp226Glu)2318FLNCUncertain significance-1RCV002288172|RCV003097753; NMedGen:CN517202|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128477290128477290128477290-
NM_001458.5(FLNC):c.679G>A (p.Asp227Asn)2318FLNCUncertain significance-1RCV002586450; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128477291128477291NC_000007.13:g.128477291G>A-
NM_001458.5(FLNC):c.690G>A (p.Gly230=)2318FLNCLikely benign775254295RCV000649238; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284773021284773027:g.128477302G>AClinGen:CA4474093C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.691G>T (p.Val231Leu)2318FLNCUncertain significance-1RCV002686138; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128477303128477303NC_000007.13:g.128477303G>T-
NM_001458.5(FLNC):c.697C>T (p.Gln233Ter)2318FLNCPathogenic1554397464RCV000530479|RCV001382203; NMedGen:CN239310|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477309128477309NC_000007.13:g.128477309C>TClinGen:CA369221671CN239310 Dilated Cardiomyopathy, Dominant;
NM_001458.5(FLNC):c.699+1G>A2318FLNCLikely pathogenic1562991776RCV000687431; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284773121284773127:g.128477312G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.699+3_699+7del2318FLNCUncertain significance-1RCV003055437; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128477314128477318NC_000007.13:g.128477314_128477318del-
NM_001458.5(FLNC):c.699+5A>G2318FLNCUncertain significance1808129501RCV001916578; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477316128477316128477316-
NM_001458.5(FLNC):c.699+8C>T2318FLNCLikely benign1327027331RCV001451681; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128477319128477319128477319-
NM_001458.5(FLNC):c.699+9dup2318FLNCLikely benign-1RCV003055438; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128477319128477320NC_000007.13:g.128477320dup-
NM_001458.5(FLNC):c.699+9G>A2318FLNCBenign749055253RCV000897423; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284773201284773207:g.128477320G>A-
NM_001458.5(FLNC):c.699+9G>T2318FLNCLikely benign749055253RCV002205352; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477320128477320128477320-
NM_001458.5(FLNC):c.699+18G>A2318FLNCLikely benign2128934092RCV002125854; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477329128477329128477329-
NM_001458.5(FLNC):c.699+20del2318FLNCLikely benign1271212198RCV002205738; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477331128477331128477330-
NM_001458.5(FLNC):c.700-20A>G2318FLNCLikely benign1408797410RCV002092267; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128477432128477432128477432-
NM_001458.5(FLNC):c.700-18C>G2318FLNCLikely benign1305665823RCV002182490; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128477434128477434128477434-
NM_001458.5(FLNC):c.700-5C>T2318FLNCLikely benign745442558RCV000840213|RCV001395985; NMedGen:CN517202|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284774471284774477:g.128477447C>T-
NM_001458.5(FLNC):c.700-4G>T2318FLNCLikely benign755636271RCV002167857; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128477448128477448128477448-
NM_001458.5(FLNC):c.700-4G>A2318FLNCLikely benign-1RCV003121863; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128477448128477448NC_000007.13:g.128477448G>A-
NM_001458.5(FLNC):c.700-2A>G2318FLNCUncertain significance-1RCV003226041; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477450128477450-
NM_001458.5(FLNC):c.707C>T (p.Ala236Val)2318FLNCUncertain significance771789906RCV001239457|RCV002366054; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284774591284774597:g.128477459C>T-
NM_001458.5(FLNC):c.711T>G (p.Pro237=)2318FLNCLikely benign749217540RCV002065841|RCV002363363; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284774631284774637:g.128477463T>G-
NM_001458.5(FLNC):c.714G>A (p.Glu238=)2318FLNCLikely benign1249772444RCV001875586; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477466128477466128477466-
NM_001458.5(FLNC):c.719T>C (p.Ile240Thr)2318FLNCUncertain significance778626535RCV002023512; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477471128477471128477471-
NM_001458.5(FLNC):c.720T>C (p.Ile240=)2318FLNCBenign2291560RCV000117081|RCV000711693|RCV001510683|RCV002371949; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN23073671284774721284774727:g.128477472T>CClinGen:CA152877CN169374 not specified;
NM_001458.5(FLNC):c.720_721inv (p.Val241Met)2318FLNCUncertain significance-1RCV001347575; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477472128477473128477472-
NM_001458.5(FLNC):c.730A>G (p.Asn244Asp)2318FLNCUncertain significance1020489966RCV001925028; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477482128477482128477482-
NM_001458.5(FLNC):c.731A>G (p.Asn244Ser)2318FLNCUncertain significance773579752RCV000692827|RCV003279004; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284774831284774837:g.128477483A>G-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.732C>T (p.Asn244=)2318FLNCBenign/Likely benign566461523RCV000876968|RCV002382012; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284774841284774847:g.128477484C>T-
NM_001458.5(FLNC):c.733G>A (p.Val245Met)2318FLNCUncertain significance-1RCV002284053|RCV002290862|RCV002382502; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128477485128477485128477485OMIM:102565.0012
NM_001458.5(FLNC):c.748G>A (p.Val250Ile)2318FLNCUncertain significance1562991895RCV001296928; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128477500128477500128477500-
NM_001458.5(FLNC):c.752T>C (p.Met251Thr)2318FLNCLikely pathogenic387906586RCV000022428|RCV001781296; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN51720271284775041284775047:g.128477504T>CClinGen:CA128477,UniProtKB:Q14315#VAR_066213,OMIM:102565.0003C3279722 614065 Myopathy, distal, 4;
NM_001458.5(FLNC):c.760C>T (p.Leu254=)2318FLNCLikely benign1808141451RCV002130403; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128477512128477512128477512-
NM_001458.5(FLNC):c.767A>G (p.Gln256Arg)2318FLNCUncertain significance760009430RCV001904378; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128477519128477519128477519-
NM_001458.5(FLNC):c.774del (p.Lys259fs)2318FLNCPathogenic1554397506RCV000536371; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477523128477523NC_000007.13:g.128477526delClinGen:CA658657715CN239310 Dilated Cardiomyopathy, Dominant;
NM_001458.5(FLNC):c.774C>G (p.Pro258=)2318FLNCLikely benign2128934181RCV002197348; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128477526128477526128477526-
NM_001458.5(FLNC):c.777G>A (p.Lys259=)2318FLNCBenign765604975RCV001362534; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128477529128477529128477529-
NM_001458.5(FLNC):c.783G>C (p.Lys261Asn)2318FLNCUncertain significance976229219RCV001327300; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477535128477535128477535-
NM_001458.5(FLNC):c.794del (p.Gly265fs)2318FLNCPathogenic2128934191RCV001974895; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477545128477545128477544-
NM_001458.5(FLNC):c.795T>C (p.Gly265=)2318FLNCBenign2291561RCV000117084|RCV000711695|RCV001510684|RCV002415598; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN23073671284775471284775477:g.128477547T>CClinGen:CA152884CN169374 not specified;
NM_001458.5(FLNC):c.796G>A (p.Ala266Thr)2318FLNCUncertain significance-1RCV002958646; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128477548128477548NC_000007.13:g.128477548G>A-
NM_001458.5(FLNC):c.797C>T (p.Ala266Val)2318FLNCUncertain significance-1RCV002972036; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128477549128477549NC_000007.13:g.128477549C>T-
NM_001458.5(FLNC):c.798C>T (p.Ala266=)2318FLNCLikely benign1350220887RCV002127145; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128477550128477550128477550-
NM_001458.5(FLNC):c.801del (p.Val268fs)2318FLNCPathogenic2128934193RCV001771780|RCV002034498; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:6140657128477553128477553128477552-
NM_001458.5(FLNC):c.802G>A (p.Val268Ile)2318FLNCUncertain significance1210929657RCV001361313|RCV002413856; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128477554128477554128477554-
NM_001458.5(FLNC):c.805C>T (p.Arg269Ter)2318FLNCPathogenic755583250RCV000649143|RCV002280134|RCV003303061; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN2307367128477557128477557NC_000007.13:g.128477557C>TClinGen:CA4474126C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.806G>A (p.Arg269Gln)2318FLNCUncertain significance1585152863RCV000799567; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284775581284775587:g.128477558G>A-
NM_001458.5(FLNC):c.824C>T (p.Pro275Leu)2318FLNCLikely benign1249075788RCV000687388; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284775761284775767:g.128477576C>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.824C>A (p.Pro275His)2318FLNCUncertain significance1249075788RCV001239648; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284775761284775767:g.128477576C>A-
NM_001458.5(FLNC):c.835A>G (p.Ile279Val)2318FLNCUncertain significance1243812099RCV001987694; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128477587128477587128477587-
NM_001458.5(FLNC):c.837C>T (p.Ile279=)2318FLNCLikely benign754916664RCV001550081|RCV002440789|RCV002072032; NMedGen:C3661900|MedGen:CN230736|MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128477589128477589128477589-
NM_001458.5(FLNC):c.838G>A (p.Ala280Thr)2318FLNCUncertain significance-1RCV003085981; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128477590128477590NC_000007.13:g.128477590G>A-
NM_001458.5(FLNC):c.842A>G (p.Tyr281Cys)2318FLNCUncertain significance1202164075RCV001218230; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284775941284775947:g.128477594A>G-
NM_001458.5(FLNC):c.843T>C (p.Tyr281=)2318FLNCLikely benign-1RCV003067987; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128477595128477595-
NM_001458.5(FLNC):c.850+1G>A2318FLNCLikely pathogenic1808146842RCV001976391; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477603128477603128477603-
NM_001458.5(FLNC):c.850+1G>T2318FLNCLikely pathogenic1808146842RCV001976571; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128477603128477603128477603-
NM_001458.5(FLNC):c.850+4T>G2318FLNCUncertain significance368602593RCV001036326; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284776061284776067:g.128477606T>G-
NM_001458.5(FLNC):c.850+4T>C2318FLNCUncertain significance368602593RCV001964932; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477606128477606128477606-
NM_001458.5(FLNC):c.850+5G>A2318FLNCUncertain significance2128934199RCV002045613; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477607128477607128477607-
NM_001458.5(FLNC):c.850+11G>A2318FLNCLikely benign-1RCV002746758; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128477613128477613NC_000007.13:g.128477613G>A-
NM_001458.5(FLNC):c.850+12C>T2318FLNCUncertain significance-1RCV003006023; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128477614128477614NC_000007.13:g.128477614C>T-
NM_001458.5(FLNC):c.850+18G>A2318FLNCBenign55907818RCV000252828|RCV002058060; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477620128477620NC_000007.13:g.128477620G>AClinGen:CA4474135CN169374 not specified;
NM_001458.5(FLNC):c.850+19C>A2318FLNCLikely benign776614185RCV002072781; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128477621128477621128477621-
NM_001458.5(FLNC):c.850+20G>A2318FLNCLikely benign776079280RCV001872536; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128477622128477622128477622-
NM_001458.5(FLNC):c.851-7C>A2318FLNCBenign/Likely benign576908770RCV000649270|RCV001584494; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C36619007128477684128477684NC_000007.13:g.128477684C>AClinGen:CA4474149C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.851-5C>T2318FLNCConflicting interpretations of pathogenicity758216356RCV000430081|RCV000649265|RCV002446712; NMedGen:CN169374|MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284776861284776867:g.128477686C>TClinGen:CA4474150C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.851-4G>C2318FLNCLikely benign372747855RCV000649259|RCV002449075; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284776871284776877:g.128477687G>CClinGen:CA4474151C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.851-4G>A2318FLNCLikely benign372747855RCV000952477|RCV001091005|RCV002409269; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN23073671284776871284776877:g.128477687G>A-
NM_001458.5(FLNC):c.853A>G (p.Ile285Val)2318FLNCUncertain significance-1RCV003078582; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128477693128477693NC_000007.13:g.128477693A>G-
NM_001458.5(FLNC):c.855C>T (p.Ile285=)2318FLNCLikely benign540753816RCV001421712|RCV002449144; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128477695128477695128477695-
NM_001458.5(FLNC):c.856G>C (p.Glu286Gln)2318FLNCUncertain significance1274480597RCV000803448|RCV002442676; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284776961284776967:g.128477696G>C-
NM_001458.5(FLNC):c.856G>A (p.Glu286Lys)2318FLNCUncertain significance1274480597RCV001943209; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477696128477696128477696-
NM_001458.5(FLNC):c.862C>A (p.Gln288Lys)2318FLNCUncertain significance1808151858RCV001967727; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477702128477702128477702-
NM_001458.5(FLNC):c.863A>G (p.Gln288Arg)2318FLNCUncertain significance1808151950RCV001298481; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128477703128477703128477703-
NM_001458.5(FLNC):c.867C>G (p.Gly289=)2318FLNCLikely benign775809908RCV001481697; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128477707128477707128477707-
NM_001458.5(FLNC):c.868A>G (p.Asn290Asp)2318FLNCUncertain significance1329109141RCV001305150|RCV002375371|RCV003128778; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN230736|MedGen:CN5172027128477708128477708128477708-
NM_001458.5(FLNC):c.873C>T (p.Thr291=)2318FLNCLikely benign749823519RCV001471997; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128477713128477713128477713-
NM_001458.5(FLNC):c.874G>A (p.Val292Met)2318FLNCUncertain significance1275499234RCV000702538; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284777141284777147:g.128477714G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.874G>T (p.Val292Leu)2318FLNCUncertain significance1275499234RCV000818757; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284777141284777147:g.128477714G>T-
NM_001458.5(FLNC):c.882G>A (p.Gln294=)2318FLNCLikely benign1220464040RCV000980477; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284777221284777227:g.128477722G>A-
NM_001458.5(FLNC):c.886G>A (p.Ala296Thr)2318FLNCUncertain significance-1RCV002619303; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128477726128477726NC_000007.13:g.128477726G>A-
NM_001458.5(FLNC):c.887C>T (p.Ala296Val)2318FLNCUncertain significance2128934235RCV002041487|RCV003314697; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C36619007128477727128477727128477727-
NM_001458.5(FLNC):c.891C>T (p.His297=)2318FLNCLikely benign-1RCV002861918; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128477731128477731-
NM_001458.5(FLNC):c.896_897delinsTT (p.Thr299Ile)2318FLNCUncertain significance1562992080RCV000707630; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128477736128477737NC_000007.13:g.128477736_128477737delinsTT-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.896C>T (p.Thr299Ile)2318FLNCConflicting interpretations of pathogenicity774743325RCV001071746|RCV002375004; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284777361284777367:g.128477736C>T-
NM_001458.5(FLNC):c.897C>T (p.Thr299=)2318FLNCLikely benign575141899RCV001477266|RCV002377818; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128477737128477737128477737-
NM_001458.5(FLNC):c.898G>A (p.Val300Met)2318FLNCUncertain significance765885585RCV001038528|RCV002372760; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284777381284777387:g.128477738G>A-
NM_001458.5(FLNC):c.899T>G (p.Val300Gly)2318FLNCUncertain significance2128934238RCV001906343; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128477739128477739128477739-
NM_001458.5(FLNC):c.904A>G (p.Thr302Ala)2318FLNCUncertain significance1410531577RCV000714893|RCV000714894|RCV000998905|RCV000808416|RCV003165949; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047128477744128477744NC_000007.13:g.128477744A>G-
NM_001458.5(FLNC):c.905C>T (p.Thr302Met)2318FLNCUncertain significance776362922RCV001064615|RCV001729788|RCV002374969|RCV002482085; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:00171284777451284777457:g.128477745C>T-
NM_001458.5(FLNC):c.906G>A (p.Thr302=)2318FLNCLikely benign758924780RCV002080471; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128477746128477746128477746-
NM_001458.5(FLNC):c.907G>A (p.Val303Met)2318FLNCUncertain significance1554397562RCV000537693; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477747128477747NC_000007.13:g.128477747G>AClinGen:CA369223065C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.909G>A (p.Val303=)2318FLNCLikely benign-1RCV003091520; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128477749128477749-
NM_001458.5(FLNC):c.912C>T (p.Asp304=)2318FLNCLikely benign201239973RCV000556985|RCV002377141|RCV001565232; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MedGen:C36619007128477752128477752NC_000007.13:g.128477752C>TClinGen:CA4474165C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.913G>A (p.Ala305Thr)2318FLNCUncertain significance1312282118RCV001314048|RCV002375397; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128477753128477753128477753-
NM_001458.5(FLNC):c.914C>G (p.Ala305Gly)2318FLNCUncertain significance966097091RCV001373564; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477754128477754128477754-
NM_001458.5(FLNC):c.918C>T (p.Gly306=)2318FLNCBenign/Likely benign200471132RCV001326316|RCV002377421; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128477758128477758128477758-
NM_001458.5(FLNC):c.919G>A (p.Val307Met)2318FLNCUncertain significance763968152RCV000550419|RCV002377142; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284777591284777597:g.128477759G>AClinGen:CA4474168C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.924C>T (p.Gly308=)2318FLNCLikely benign541392206RCV000526545; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284777641284777647:g.128477764C>TClinGen:CA4474170C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.925G>A (p.Glu309Lys)2318FLNCUncertain significance781212262RCV000686698|RCV000765931|RCV002369830; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:6170477128477765128477765NC_000007.13:g.128477765G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.934G>A (p.Val312Ile)2318FLNCUncertain significance2128934250RCV001941076; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477774128477774128477774-
NM_001458.5(FLNC):c.935T>G (p.Val312Gly)2318FLNCUncertain significance1808156535RCV001312749; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128477775128477775128477775-
NM_001458.5(FLNC):c.936C>T (p.Val312=)2318FLNCLikely benign1228125281RCV002113937; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477776128477776128477776-
NM_001458.5(FLNC):c.942C>T (p.Ile314=)2318FLNCLikely benign746121984RCV001495259|RCV001562178|RCV002449308; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C3661900|MedGen:CN2307367128477782128477782128477782-
NM_001458.5(FLNC):c.943G>A (p.Glu315Lys)2318FLNCUncertain significance756104407RCV001369656; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128477783128477783128477783-
NM_001458.5(FLNC):c.949C>A (p.Pro317Thr)2318FLNCUncertain significance1562992145RCV000702353; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284777891284777897:g.128477789C>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.953A>C (p.Glu318Ala)2318FLNCUncertain significance2128934254RCV002010291; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477793128477793128477793-
NM_001458.5(FLNC):c.963C>T (p.Thr321=)2318FLNCLikely benign749769428RCV001395740|RCV002384562; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128477803128477803128477803-
NM_001458.5(FLNC):c.964G>T (p.Glu322Ter)2318FLNCPathogenic1417082178RCV001058059; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284778041284778047:g.128477804G>T-
NM_001458.5(FLNC):c.964G>A (p.Glu322Lys)2318FLNCUncertain significance-1RCV003078853; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128477804128477804NC_000007.13:g.128477804G>A-
NM_001458.5(FLNC):c.967G>A (p.Glu323Lys)2318FLNCUncertain significance1562992158RCV000687379|RCV002369836; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284778071284778077:g.128477807G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.969+4T>G2318FLNCUncertain significance953435954RCV000539128; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477813128477813NC_000007.13:g.128477813T>GClinGen:CA166214537C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.969+10G>A2318FLNCLikely benign953416778RCV001479283; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128477819128477819128477819-
NM_001458.5(FLNC):c.969+12C>T2318FLNCLikely benign-1RCV002943671; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128477821128477821NC_000007.13:g.128477821C>T-
NM_001458.5(FLNC):c.969+13C>T2318FLNCLikely benign774847804RCV002098496; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128477822128477822128477822-
NM_001458.5(FLNC):c.969+14G>T2318FLNCLikely benign765545958RCV000244419|RCV001702390|RCV002058061; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128477823128477823NC_000007.13:g.128477823G>TClinGen:CA4474178CN169374 not specified;
NM_001458.5(FLNC):c.969+14G>A2318FLNCLikely benign765545958RCV002121228; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128477823128477823128477823-
NM_001458.5(FLNC):c.970-20A>G2318FLNCLikely benign751696900RCV002169787; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128478021128478021128478021-
NM_001458.5(FLNC):c.970-15T>C2318FLNCLikely benign751554946RCV002106889; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128478026128478026128478026-
NM_001458.5(FLNC):c.970-5A>G2318FLNCConflicting interpretations of pathogenicity199755800RCV000649267|RCV001592808|RCV002369737; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN517202|MedGen:CN23073671284780361284780367:g.128478036A>GClinGen:CA4474187C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.970-5A>C2318FLNCUncertain significance199755800RCV001341716; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128478036128478036128478036-
NM_001458.5(FLNC):c.970-4A>G2318FLNCConflicting interpretations of pathogenicity532143625RCV000497600|RCV000527914|RCV002225107|RCV002298627|RCV002376908|RCV003150244; NMedGen:CN517202|MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MONDO:MONDO:0012289,MedGen:C18371284780371284780377:g.128478037A>GClinGen:CA4474188C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.970-3T>C2318FLNCUncertain significance1250140261RCV002017728|RCV002370706; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128478038128478038128478038-
NM_001458.5(FLNC):c.977T>C (p.Val326Ala)2318FLNCConflicting interpretations of pathogenicity570010538RCV001349141|RCV001573833; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C36619007128478048128478048128478048-
NM_001458.5(FLNC):c.978G>A (p.Val326=)2318FLNCLikely benign-1RCV002780823; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478049128478049-
NM_001458.5(FLNC):c.986A>G (p.Asn329Ser)2318FLNCUncertain significance536935095RCV002000251|RCV002386851; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128478057128478057128478057-
NM_001458.5(FLNC):c.987C>A (p.Asn329Lys)2318FLNCUncertain significance1808169217RCV001314335; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128478058128478058128478058-
NM_001458.5(FLNC):c.992A>G (p.Asp331Gly)2318FLNCUncertain significance1808169515RCV001057665; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284780631284780637:g.128478063A>G-
NM_001458.5(FLNC):c.1000C>T (p.Arg334Cys)2318FLNCConflicting interpretations of pathogenicity372497581RCV000805817|RCV001577432|RCV002332645|RCV002501083; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:00171284780711284780717:g.128478071C>T-
NM_001458.5(FLNC):c.1000C>A (p.Arg334Ser)2318FLNCLikely benign372497581RCV001943311; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128478071128478071128478071-
NM_001458.5(FLNC):c.1001G>A (p.Arg334His)2318FLNCUncertain significance779347920RCV001216665|RCV002382236|RCV003227887; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN230736|MedGen:C366190071284780721284780727:g.128478072G>A-
NM_001458.5(FLNC):c.1003A>C (p.Thr335Pro)2318FLNCUncertain significance-1RCV002301246; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128478074128478074128478074-
NM_001458.5(FLNC):c.1007A>G (p.Tyr336Cys)2318FLNCUncertain significance748723761RCV001246674|RCV003393916; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|71284780781284780787:g.128478078A>G-
NM_001458.5(FLNC):c.1012G>A (p.Val338Ile)2318FLNCUncertain significance2128934331RCV001870784; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478083128478083128478083-
NM_001458.5(FLNC):c.1019A>G (p.Tyr340Cys)2318FLNCUncertain significance1362619480RCV001369356|RCV003145636; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C36619007128478090128478090128478090-
NM_001458.5(FLNC):c.1026C>T (p.Pro342=)2318FLNCLikely benign200633995RCV000839725|RCV001087110|RCV002501169|RCV002381895; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MONDO:MONDO:0013550,MedGen:C32771284780971284780977:g.128478097C>T-
NM_001458.5(FLNC):c.1027A>G (p.Lys343Glu)2318FLNCUncertain significance745495679RCV000813867; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284780981284780987:g.128478098A>G-
NM_001458.5(FLNC):c.1027A>T (p.Lys343Ter)2318FLNCPathogenic745495679RCV001065667; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284780981284780987:g.128478098A>T-
NM_001458.5(FLNC):c.1032C>T (p.Val344=)2318FLNCBenign2291562RCV000117063|RCV000711674|RCV001517750|RCV002390260; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN23073671284781031284781037:g.128478103C>TClinGen:CA152826CN169374 not specified;
NM_001458.5(FLNC):c.1035T>C (p.Ala345=)2318FLNCLikely benign2128934337RCV002156362; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478106128478106128478106-
NM_001458.5(FLNC):c.1040T>C (p.Leu347Ser)2318FLNCUncertain significance1554397631RCV000649145; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284781111284781117:g.128478111T>CClinGen:CA369223449C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1042C>T (p.His348Tyr)2318FLNCUncertain significance2128934341RCV002001666; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128478113128478113128478113-
NM_001458.5(FLNC):c.1043A>C (p.His348Pro)2318FLNCUncertain significance-1RCV003020667; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478114128478114NC_000007.13:g.128478114A>C-
NM_001458.5(FLNC):c.1047+1G>T2318FLNCLikely pathogenic762493013RCV001231193; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284781191284781197:g.128478119G>T-
NM_001458.5(FLNC):c.1047+1G>A2318FLNCLikely pathogenic762493013RCV001377464; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128478119128478119128478119-
NM_001458.5(FLNC):c.1047+3A>G2318FLNCUncertain significance-1RCV003031201; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478121128478121NC_000007.13:g.128478121A>G-
NM_001458.5(FLNC):c.1047+9C>T2318FLNCLikely benign-1RCV002605251; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478127128478127NC_000007.13:g.128478127C>T-
NM_001458.5(FLNC):c.1047+11C>G2318FLNCLikely benign-1RCV002928828; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478129128478129NC_000007.13:g.128478129C>G-
NM_001458.5(FLNC):c.1047+16C>G2318FLNCLikely benign961893897RCV002078529; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128478134128478134128478134-
NM_001458.5(FLNC):c.1047+16C>T2318FLNCLikely benign-1RCV003116053; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128478134128478134NC_000007.13:g.128478134C>T-
NM_001458.5(FLNC):c.1047+17C>A2318FLNCLikely benign1477732116RCV002158552; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478135128478135128478135-
NM_001458.5(FLNC):c.1047+17C>T2318FLNCLikely benign1477732116RCV002144712; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128478135128478135128478135-
NM_001458.5(FLNC):c.1047+19C>G2318FLNCLikely benign-1RCV002615262; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478137128478137NC_000007.13:g.128478137C>G-
NM_001458.5(FLNC):c.1048-9G>A2318FLNCLikely benign897884333RCV001461810; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128478312128478312128478312-
NM_001458.5(FLNC):c.1048-9G>T2318FLNCLikely benign897884333RCV001458821; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128478312128478312128478312-
NM_001458.5(FLNC):c.1052C>T (p.Thr351Ile)2318FLNCUncertain significance1309343033RCV001955338|RCV003146387; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C36619007128478325128478325128478325-
NM_001458.5(FLNC):c.1053C>T (p.Thr351=)2318FLNCLikely benign375071103RCV000649272|RCV001698458|RCV002413751; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|MedGen:CN23073671284783261284783267:g.128478326C>TClinGen:CA4474223C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1054G>A (p.Val352Met)2318FLNCUncertain significance773023988RCV000649075|RCV002406442|RCV002507113; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MONDO:MONDO:0014883,MedGen:C4317128478327128478327NC_000007.13:g.128478327G>AClinGen:CA4474224C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1059C>T (p.Leu353=)2318FLNCLikely benign760418462RCV001443050|RCV001597273|RCV002414055; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:C3661900|MedGen:CN2307367128478332128478332128478332-
NM_001458.5(FLNC):c.1059C>G (p.Leu353=)2318FLNCLikely benign760418462RCV001500709|RCV003426160; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C36619007128478332128478332128478332-
NM_001458.5(FLNC):c.1064C>T (p.Ala355Val)2318FLNCUncertain significance1231559702RCV001999567; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128478337128478337128478337-
NM_001458.5(FLNC):c.1066G>A (p.Gly356Ser)2318FLNCUncertain significance1808183705RCV001210753; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284783391284783397:g.128478339G>A-
NM_001458.5(FLNC):c.1069C>T (p.Gln357Ter)2318FLNCPathogenic2128934390RCV001942297|RCV002407181; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128478342128478342128478342-
NM_001458.5(FLNC):c.1073A>G (p.Asn358Ser)2318FLNCLikely benign766196208RCV001044116; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284783461284783467:g.128478346A>G-
NM_001458.5(FLNC):c.1074C>T (p.Asn358=)2318FLNCLikely benign776805988RCV001427466|RCV002420961; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128478347128478347128478347-
NM_001458.5(FLNC):c.1081C>T (p.Arg361Cys)2318FLNCConflicting interpretations of pathogenicity200206944RCV000509189|RCV000540279|RCV000764683|RCV001528916|RCV002431471|RCV003403197; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284783541284783547:g.128478354C>TClinGen:CA4474229C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1082G>A (p.Arg361His)2318FLNCUncertain significance752888774RCV000416057|RCV000649117|RCV002480273|RCV003298427; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0012289,MedGen:C18371284783551284783557:g.128478355G>AClinGen:CA4474230C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1087C>A (p.Pro363Thr)2318FLNCUncertain significance2128934398RCV001916326; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128478360128478360128478360-
NM_001458.5(FLNC):c.1089C>T (p.Pro363=)2318FLNCLikely benign1016218211RCV001498730; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128478362128478362128478362-
NM_001458.5(FLNC):c.1094A>G (p.Glu365Gly)2318FLNCConflicting interpretations of pathogenicity752027721RCV000649063|RCV002449072|RCV003144434; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MedGen:CN5172027128478367128478367NC_000007.13:g.128478367A>GClinGen:CA4474233C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1097T>C (p.Val366Ala)2318FLNCUncertain significance1324323411RCV001312796|RCV003375207; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128478370128478370128478370-
NM_001458.5(FLNC):c.1102G>A (p.Val368Met)2318FLNCConflicting interpretations of pathogenicity781718076RCV000552773|RCV000998907|RCV002456209; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN23073671284783751284783757:g.128478375G>AClinGen:CA4474235C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1102G>C (p.Val368Leu)2318FLNCUncertain significance781718076RCV001912568|RCV002458754; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128478375128478375128478375-
NM_001458.5(FLNC):c.1106G>C (p.Gly369Ala)2318FLNCUncertain significance754733061RCV000532764; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284783791284783797:g.128478379G>CClinGen:CA369223716C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1106G>T (p.Gly369Val)2318FLNCUncertain significance-1RCV002594785; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478379128478379NC_000007.13:g.128478379G>T-
NM_001458.5(FLNC):c.1108A>G (p.Met370Val)2318FLNCConflicting interpretations of pathogenicity370406338RCV000694056|RCV002272333|RCV003144524|RCV002458245; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|EFO:EFO_0000407,Human Phenotype Ontology:HP:0007128478381128478381NC_000007.13:g.128478381A>G-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1111dup (p.Ala371fs)2318FLNCPathogenic2128934407RCV001926303; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128478382128478383128478382-
NM_001458.5(FLNC):c.1116G>T (p.Leu372=)2318FLNCLikely benign-1RCV002851096; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478389128478389-
NM_001458.5(FLNC):c.1123G>A (p.Ala375Thr)2318FLNCUncertain significance747623981RCV001230633|RCV002436896; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284783961284783967:g.128478396G>A-
NM_001458.5(FLNC):c.1128C>A (p.Asn376Lys)2318FLNCLikely benign773165378RCV000649072; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478401128478401NC_000007.13:g.128478401C>AClinGen:CA4474241C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1129A>G (p.Lys377Glu)2318FLNCUncertain significance1035933787RCV001307593; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128478402128478402128478402-
NM_001458.5(FLNC):c.1131G>C (p.Lys377Asn)2318FLNCUncertain significance1396483415RCV001234393|RCV002221268; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:60952471284784041284784047:g.128478404G>C-
NM_001458.5(FLNC):c.1135T>G (p.Ser379Ala)2318FLNCUncertain significance746992457RCV001316119; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128478408128478408128478408-
NM_001458.5(FLNC):c.1136C>G (p.Ser379Ter)2318FLNCPathogenic-1RCV002904659; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478409128478409NC_000007.13:g.128478409C>G-
NM_001458.5(FLNC):c.1141C>T (p.Arg381Cys)2318FLNCConflicting interpretations of pathogenicity770692923RCV001307478|RCV002456394; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128478414128478414128478414-
NM_001458.5(FLNC):c.1141C>G (p.Arg381Gly)2318FLNCUncertain significance770692923RCV002022708; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128478414128478414128478414-
NM_001458.5(FLNC):c.1142G>A (p.Arg381His)2318FLNCConflicting interpretations of pathogenicity776469396RCV000811056|RCV000998908|RCV002487765|RCV002460109; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C3661900|MONDO:MONDO:0012289,MedGen:C18371284784151284784157:g.128478415G>A-
NM_001458.5(FLNC):c.1147C>G (p.Pro383Ala)2318FLNCLikely benign770615073RCV002093427; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128478420128478420128478420-
NM_001458.5(FLNC):c.1156G>C (p.Glu386Gln)2318FLNCUncertain significance1204536261RCV002039527|RCV003346709; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN2307367128478429128478429128478429-
NM_001458.5(FLNC):c.1159C>T (p.Pro387Ser)2318FLNCUncertain significance-1RCV002825131; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478432128478432NC_000007.13:g.128478432C>T-
NM_001458.5(FLNC):c.1160C>G (p.Pro387Arg)2318FLNCUncertain significance765434369RCV001915958; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128478433128478433128478433-
NM_001458.5(FLNC):c.1161T>G (p.Pro387=)2318FLNCLikely benign-1RCV002695320; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478434128478434-
NM_001458.5(FLNC):c.1162G>C (p.Val388Leu)2318FLNCUncertain significance1484540724RCV002024681; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128478435128478435128478435-
NM_001458.5(FLNC):c.1166dup (p.Asn390fs)2318FLNCPathogenic-1RCV003030870; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478436128478437NC_000007.13:g.128478439dup-
NM_001458.5(FLNC):c.1166G>A (p.Gly389Asp)2318FLNCConflicting interpretations of pathogenicity763039506RCV000487193|RCV000649173|RCV003150233|RCV002475928|RCV003401513; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|Human Phenotype Ontology:HP:00071284784391284784397:g.128478439G>AClinGen:CA4474248C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1168A>C (p.Asn390His)2318FLNCUncertain significance922960289RCV000649161|RCV001756084; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN5172027128478441128478441NC_000007.13:g.128478441A>CClinGen:CA166214934C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1169A>G (p.Asn390Ser)2318FLNCConflicting interpretations of pathogenicity188905854RCV000649057|RCV002531937; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MeSH:D030342,MedGen:C095012371284784421284784427:g.128478442A>GClinGen:CA4474249C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1171G>A (p.Val391Met)2318FLNCUncertain significance757887021RCV000649138|RCV002331236; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128478444128478444NC_000007.13:g.128478444G>AClinGen:CA4474251C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1175C>A (p.Ala392Asp)2318FLNCUncertain significance1808189981RCV002031196|RCV003146495|RCV002551191; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C3661900|MeSH:D030342,MedGen:C09501237128478448128478448128478448-
NM_001458.5(FLNC):c.1176C>T (p.Ala392=)2318FLNCLikely benign767977714RCV000649247; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284784491284784497:g.128478449C>TClinGen:CA4474252C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1179C>T (p.Asn393=)2318FLNCLikely benign547934558RCV002191992; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128478452128478452128478452-
NM_001458.5(FLNC):c.1182A>G (p.Lys394=)2318FLNCLikely benign2128934426RCV001491968; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478455128478455128478455-
NM_001458.5(FLNC):c.1184C>T (p.Pro395Leu)2318FLNCLikely benign750881912RCV002018235; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128478457128478457128478457-
NM_001458.5(FLNC):c.1185C>T (p.Pro395=)2318FLNCLikely benign-1RCV003005069; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478458128478458-
NM_001458.5(FLNC):c.1186A>G (p.Thr396Ala)2318FLNCUncertain significance1437029966RCV000649128; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284784591284784597:g.128478459A>GClinGen:CA369224283C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1187C>A (p.Thr396Asn)2318FLNCUncertain significance2128934429RCV001937706; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128478460128478460128478460-
NM_001458.5(FLNC):c.1188C>A (p.Thr396=)2318FLNCLikely benign1585153728RCV001453440; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284784611284784617:g.128478461C>A-
NM_001458.5(FLNC):c.1197C>T (p.Asp399=)2318FLNCConflicting interpretations of pathogenicity756546984RCV000342806|RCV001417640; NMedGen:CN517202|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284784701284784707:g.128478470C>TClinGen:CA4474254CN169374 not specified;
NM_001458.5(FLNC):c.1199T>C (p.Ile400Thr)2318FLNCUncertain significance1562992604RCV000714589|RCV000714588; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128478472128478472NC_000007.13:g.128478472T>C-
NM_001458.5(FLNC):c.1200C>T (p.Ile400=)2318FLNCBenign778565971RCV001510880; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128478473128478473128478473-
NM_001458.5(FLNC):c.1205C>T (p.Thr402Ile)2318FLNCConflicting interpretations of pathogenicity374757755RCV001057708|RCV002348424|RCV002489652; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MONDO:MONDO:0012289,MedGen:C18371284784781284784787:g.128478478C>T-
NM_001458.5(FLNC):c.1205del (p.Thr402fs)2318FLNCPathogenic2128934432RCV001380250; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128478478128478478128478477-
NM_001458.5(FLNC):c.1206T>A (p.Thr402=)2318FLNCLikely benign757898362RCV000649168|RCV003362879; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN23073671284784791284784797:g.128478479T>AClinGen:CA457846450C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1206T>G (p.Thr402=)2318FLNCLikely benign757898362RCV002156451; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478479128478479128478479-
NM_001458.5(FLNC):c.1208C>A (p.Ala403Glu)2318FLNCUncertain significance777199447RCV001300302|RCV003346437; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310|MedGen:CN2307367128478481128478481128478481-
NM_001458.5(FLNC):c.1208C>T (p.Ala403Val)2318FLNCUncertain significance777199447RCV001926708|RCV002344063|RCV003146367; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MedGen:C36619007128478481128478481128478481-
NM_001458.5(FLNC):c.1209G>A (p.Ala403=)2318FLNCConflicting interpretations of pathogenicity746938160RCV001349359|RCV002357201; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128478482128478482128478482-
NM_001458.5(FLNC):c.1210+4G>A2318FLNCUncertain significance2128934436RCV001929206; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128478487128478487128478487-
NM_001458.5(FLNC):c.1210+5G>A2318FLNCUncertain significance770923888RCV001248329|RCV002357054|RCV002473243; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|MedGen:CN51720271284784881284784887:g.128478488G>A-
NM_001458.5(FLNC):c.1210+7C>T2318FLNCLikely benign776554557RCV001500514; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284784901284784907:g.128478490C>TClinGen:CA4474261C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1210+8G>A2318FLNCLikely benign368892134RCV000649194; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478491128478491NC_000007.13:g.128478491G>AClinGen:CA4474262C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1210+10G>T2318FLNCLikely benign562941732RCV000927506; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284784931284784937:g.128478493G>T-
NM_001458.5(FLNC):c.1210+13C>T2318FLNCLikely benign775741829RCV002137555; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128478496128478496128478496-
NM_001458.5(FLNC):c.1210+15A>G2318FLNCLikely benign763122529RCV002109592; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128478498128478498128478498-
NM_001458.5(FLNC):c.1210+16G>A2318FLNCLikely benign-1RCV002640667; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478499128478499NC_000007.13:g.128478499G>A-
NM_001458.5(FLNC):c.1210+19G>C2318FLNCLikely benign1174673304RCV002131306; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128478502128478502128478502-
NM_001458.5(FLNC):c.1211-18A>C2318FLNCLikely benign781059433RCV002119083; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128478639128478639128478639-
NM_001458.5(FLNC):c.1211-11G>C2318FLNCLikely benign2128934481RCV002076239; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478646128478646128478646-
NM_001458.5(FLNC):c.1211-6C>T2318FLNCLikely benign745834917RCV000649273|RCV001592809; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN51720271284786511284786517:g.128478651C>TClinGen:CA4474279C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1211-5G>A2318FLNCUncertain significance769599454RCV001040758; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284786521284786527:g.128478652G>A-
NM_001458.5(FLNC):c.1211-4G>T2318FLNCUncertain significance779760488RCV002037317; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128478653128478653128478653-
NM_001458.5(FLNC):c.1215C>T (p.Ala405=)2318FLNCLikely benign749510534RCV000649225|RCV001584493|RCV002358863; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|MedGen:CN2307367128478661128478661NC_000007.13:g.128478661C>TClinGen:CA4474282C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1216G>A (p.Gly406Ser)2318FLNCUncertain significance1343684536RCV000553124|RCV000624554|RCV002223135|RCV002358567; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:00148871284786621284786627:g.128478662G>AClinGen:CA369224361C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1222G>A (p.Gly408Ser)2318FLNCUncertain significance2128934484RCV001906052; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128478668128478668128478668-
NM_001458.5(FLNC):c.1224C>T (p.Gly408=)2318FLNCLikely benign1412295566RCV001908459; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128478670128478670128478670-
NM_001458.5(FLNC):c.1225G>A (p.Asp409Asn)2318FLNCUncertain significance371913931RCV000816191|RCV001585752|RCV002363131|RCV002487799; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:00171284786711284786717:g.128478671G>A-
NM_001458.5(FLNC):c.1227T>C (p.Asp409=)2318FLNCLikely benign375033262RCV000529111|RCV002367913; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128478673128478673NC_000007.13:g.128478673T>CClinGen:CA166215176C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1228G>C (p.Val410Leu)2318FLNCConflicting interpretations of pathogenicity993836469RCV000822173|RCV002363168; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284786741284786747:g.128478674G>C-
NM_001458.5(FLNC):c.1233T>C (p.Ala411=)2318FLNCLikely benign1035589817RCV002198425; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128478679128478679128478679-
NM_001458.5(FLNC):c.1239G>A (p.Val413=)2318FLNCLikely benign774716505RCV002177608|RCV002372849; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128478685128478685128478685-
NM_001458.5(FLNC):c.1242C>T (p.Ile414=)2318FLNCLikely benign761922411RCV000546708|RCV001696952|RCV002384208|RCV003330785; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN230736|MedGen:CN1693747128478688128478688NC_000007.13:g.128478688C>TClinGen:CA4474285C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1242C>G (p.Ile414Met)2318FLNCUncertain significance-1RCV002380368|RCV003103393; NMedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128478688128478688128478688-
NM_001458.5(FLNC):c.1243G>A (p.Val415Met)2318FLNCConflicting interpretations of pathogenicity369182765RCV000702072|RCV002386251|RCV003144557; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|MedGen:CN5172027128478689128478689NC_000007.13:g.128478689G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1246G>A (p.Asp416Asn)2318FLNCUncertain significance-1RCV002838823; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478692128478692NC_000007.13:g.128478692G>A-
NM_001458.5(FLNC):c.1255G>A (p.Gly419Ser)2318FLNCUncertain significance-1RCV002647668; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478701128478701NC_000007.13:g.128478701G>A-
NM_001458.5(FLNC):c.1258C>T (p.Arg420Trp)2318FLNCConflicting interpretations of pathogenicity766755439RCV001050080|RCV002429642; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284787041284787047:g.128478704C>T-
NM_001458.5(FLNC):c.1258C>G (p.Arg420Gly)2318FLNCUncertain significance-1RCV002756063; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478704128478704NC_000007.13:g.128478704C>G-
NM_001458.5(FLNC):c.1259G>A (p.Arg420Gln)2318FLNCConflicting interpretations of pathogenicity371410741RCV000649069|RCV002406441|RCV002477439; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MONDO:MONDO:0014883,MedGen:C4317128478705128478705NC_000007.13:g.128478705G>AClinGen:CA4474290C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1260del (p.Arg421fs)2318FLNCPathogenic2128934500RCV001994548; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128478705128478705128478704-
NM_001458.5(FLNC):c.1260G>A (p.Arg420=)2318FLNCLikely benign759951101RCV000877045|RCV002434161; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284787061284787067:g.128478706G>A-
NM_001458.5(FLNC):c.1261C>T (p.Arg421Trp)2318FLNCConflicting interpretations of pathogenicity759075520RCV000554572|RCV001755874|RCV002491076|RCV002448759; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MONDO:MONDO:0012289,MedGen:C1837128478707128478707NC_000007.13:g.128478707C>TClinGen:CA4474292C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1262G>A (p.Arg421Gln)2318FLNCLikely benign751236317RCV001051035; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284787081284787087:g.128478708G>A-
NM_001458.5(FLNC):c.1269A>C (p.Thr423=)2318FLNCLikely benign1808205111RCV002134431; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128478715128478715128478715-
NM_001458.5(FLNC):c.1272G>A (p.Val424=)2318FLNCLikely benign-1RCV002861248; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478718128478718-
NM_001458.5(FLNC):c.1281C>T (p.Ala427=)2318FLNCLikely benign1055109116RCV001481946|RCV002382103; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284787271284787277:g.128478727C>T-
NM_001458.5(FLNC):c.1282C>G (p.Leu428Val)2318FLNCUncertain significance1585154042RCV000822370|RCV001759617; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN51720271284787281284787287:g.128478728C>G-
NM_001458.5(FLNC):c.1286A>C (p.Glu429Ala)2318FLNCUncertain significance1031308521RCV002030583; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128478732128478732128478732-
NM_001458.5(FLNC):c.1293G>A (p.Lys431=)2318FLNCLikely benign1808206047RCV002151075|RCV002382435; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128478739128478739128478739-
NM_001458.5(FLNC):c.1295G>T (p.Gly432Val)2318FLNCUncertain significance750350780RCV000810486; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284787411284787417:g.128478741G>T-
NM_001458.5(FLNC):c.1301G>A (p.Ser434Asn)2318FLNCUncertain significance1585154054RCV001227134; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284787471284787477:g.128478747G>A-
NM_001458.5(FLNC):c.1303A>G (p.Thr435Ala)2318FLNCUncertain significance1808206478RCV001209174; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284787491284787497:g.128478749A>G-
NM_001458.5(FLNC):c.1304C>T (p.Thr435Met)2318FLNCConflicting interpretations of pathogenicity199935488RCV000530599|RCV002384209; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284787501284787507:g.128478750C>TClinGen:CA4474297C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1305G>A (p.Thr435=)2318FLNCLikely benign779890960RCV000963551|RCV002382187; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284787511284787517:g.128478751G>A-
NM_001458.5(FLNC):c.1309C>T (p.Arg437Cys)2318FLNCUncertain significance374847180RCV000688149|RCV001592871|RCV002272329|RCV002386175|RCV003411601; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C3661900|MONDO:MONDO:0014883,MedGen:C43171284787551284787557:g.128478755C>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1309C>G (p.Arg437Gly)2318FLNCUncertain significance374847180RCV000823305|RCV003307561; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284787551284787557:g.128478755C>G-
NM_001458.5(FLNC):c.1310G>T (p.Arg437Leu)2318FLNCLikely benign370138936RCV000543069; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284787561284787567:g.128478756G>TClinGen:CA4474301C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1310G>A (p.Arg437His)2318FLNCConflicting interpretations of pathogenicity370138936RCV001044617|RCV002379520; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284787561284787567:g.128478756G>A-
NM_001458.5(FLNC):c.1311C>T (p.Arg437=)2318FLNCLikely benign2128934522RCV001403487; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128478757128478757128478757-
NM_001458.5(FLNC):c.1315_1328del (p.Thr439fs)2318FLNCPathogenic-1RCV002881923; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478757128478770NC_000007.13:g.128478761_128478774del-
NM_001458.5(FLNC):c.1325C>A (p.Pro442His)2318FLNCUncertain significance1554397822RCV001888653; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128478771128478771128478771-
NM_001458.5(FLNC):c.1328C>T (p.Ala443Val)2318FLNCUncertain significance1808207788RCV001046547|RCV002489593; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:61406571284787741284787747:g.128478774C>T-
NM_001458.5(FLNC):c.1332G>A (p.Met444Ile)2318FLNCUncertain significance1343786191RCV001350577; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128478778128478778128478778-
NM_001458.5(FLNC):c.1338G>A (p.Gly446=)2318FLNCLikely benign2128934526RCV002208335; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478784128478784128478784-
NM_001458.5(FLNC):c.1341A>G (p.Pro447=)2318FLNCLikely benign2128934528RCV001432488; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128478787128478787128478787-
NM_001458.5(FLNC):c.1347C>T (p.Thr449=)2318FLNCLikely benign776162830RCV000915466|RCV001664548|RCV002382076; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN517202|MedGen:CN23073671284787931284787937:g.128478793C>T-
NM_001458.5(FLNC):c.1348G>A (p.Val450Met)2318FLNCLikely benign747550431RCV000559462|RCV002384210; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128478794128478794NC_000007.13:g.128478794G>AClinGen:CA4474305C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1349T>C (p.Val450Ala)2318FLNCUncertain significance-1RCV002295965; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128478795128478795128478795-
NM_001458.5(FLNC):c.1350G>T (p.Val450=)2318FLNCLikely benign2128934535RCV002177994; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128478796128478796128478796-
NM_001458.5(FLNC):c.1351C>T (p.His451Tyr)2318FLNCUncertain significance-1RCV002695228; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478797128478797NC_000007.13:g.128478797C>T-
NM_001458.5(FLNC):c.1352A>C (p.His451Pro)2318FLNCUncertain significance1808209347RCV001915452; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128478798128478798128478798-
NM_001458.5(FLNC):c.1353T>C (p.His451=)2318FLNCLikely benign1181457724RCV002141860; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128478799128478799128478799-
NM_001458.5(FLNC):c.1354G>A (p.Val452Met)2318FLNCBenign/Likely benign192163925RCV000535494|RCV002384211|RCV001557601; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MedGen:C36619007128478800128478800NC_000007.13:g.128478800G>AClinGen:CA4474306C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1364C>T (p.Ala455Val)2318FLNCUncertain significance777210524RCV000560364|RCV003144345; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN5172027128478810128478810NC_000007.13:g.128478810C>TClinGen:CA4474307C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1365G>A (p.Ala455=)2318FLNCBenign377345122RCV003093251; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478811128478811NC_000007.13:g.128478811G>A-
NM_001458.5(FLNC):c.1367G>T (p.Gly456Val)2318FLNCUncertain significance765622614RCV002050485|RCV002469451; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:C36619007128478813128478813128478813-
NM_001458.5(FLNC):c.1372C>T (p.Pro458Ser)2318FLNCConflicting interpretations of pathogenicity369747694RCV000707525|RCV002386278|RCV003144574; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MedGen:C36619007128478818128478818NC_000007.13:g.128478818C>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1372C>A (p.Pro458Thr)2318FLNCUncertain significance369747694RCV002028257; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128478818128478818128478818-
NM_001458.5(FLNC):c.1373C>G (p.Pro458Arg)2318FLNCUncertain significance1808210779RCV001038835|RCV003145263; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN51720271284788191284788197:g.128478819C>G-
NM_001458.5(FLNC):c.1374C>T (p.Pro458=)2318FLNCBenign115140972RCV000117064|RCV000543411|RCV001729391|RCV002381426; NMedGen:CN169374|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:C3661900|MedGen:CN23073671284788201284788207:g.128478820C>TClinGen:CA152829C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1381C>T (p.Arg461Cys)2318FLNCLikely benign766999669RCV001215837; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284788271284788277:g.128478827C>T-
NM_001458.5(FLNC):c.1382G>T (p.Arg461Leu)2318FLNCUncertain significance377587489RCV001049454|RCV003363077; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284788281284788287:g.128478828G>T-
NM_001458.5(FLNC):c.1382G>A (p.Arg461His)2318FLNCUncertain significance377587489RCV001305133|RCV003145539; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN5172027128478828128478828128478828-
NM_001458.5(FLNC):c.1383C>T (p.Arg461=)2318FLNCLikely benign1562992883RCV002102136; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128478829128478829128478829-
NM_001458.5(FLNC):c.1392C>T (p.Phe464=)2318FLNCLikely benign910678755RCV000536975|RCV002395434; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128478838128478838NC_000007.13:g.128478838C>TClinGen:CA166215257C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1398C>T (p.Val466=)2318FLNCLikely benign942095368RCV000923686|RCV001580555; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN51720271284788441284788447:g.128478844C>T-
NM_001458.5(FLNC):c.1406C>T (p.Ser469Leu)2318FLNCConflicting interpretations of pathogenicity1279257124RCV001224233|RCV002393547; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284788521284788527:g.128478852C>T-
NM_001458.5(FLNC):c.1407G>A (p.Ser469=)2318FLNCUncertain significance766168758RCV001312949; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128478853128478853128478853-
NM_001458.5(FLNC):c.1411G>A (p.Ala471Thr)2318FLNCUncertain significance-1RCV002971577; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478857128478857NC_000007.13:g.128478857G>A-
NM_001458.5(FLNC):c.1411+1G>T2318FLNCLikely pathogenic2128934545RCV001975564; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128478858128478858128478858-
NM_001458.5(FLNC):c.1411+9C>G2318FLNCLikely benign-1RCV003082678; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478866128478866NC_000007.13:g.128478866C>G-
NM_001458.5(FLNC):c.1411+9C>T2318FLNCLikely benign-1RCV003063759; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478866128478866NC_000007.13:g.128478866C>T-
NM_001458.5(FLNC):c.1411+10C>G2318FLNCLikely benign2128934548RCV001417612; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128478867128478867128478867-
NM_001458.5(FLNC):c.1411+17G>T2318FLNCLikely benign954461668RCV002190470; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128478874128478874128478874-
NM_001458.5(FLNC):c.1411+17G>C2318FLNCLikely benign-1RCV002706765; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478874128478874NC_000007.13:g.128478874G>C-
NM_001458.5(FLNC):c.1411+20C>G2318FLNCLikely benign1434883225RCV002197745; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128478877128478877128478877-
NM_001458.5(FLNC):c.1412-10C>T2318FLNCLikely benign371509764RCV001402903; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284800671284800677:g.128480067C>T-
NM_001458.5(FLNC):c.1412-8T>G2318FLNCLikely benign1585155030RCV001462258; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128480069128480069128480069-
NM_001458.5(FLNC):c.1412-6C>T2318FLNCLikely benign753700851RCV000876317|RCV001506616; NMedGen:CN517202|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284800711284800717:g.128480071C>T-
NM_001458.5(FLNC):c.1412-5C>T2318FLNCConflicting interpretations of pathogenicity765122668RCV001405476|RCV002390840; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284800721284800727:g.128480072C>T-
NM_001458.5(FLNC):c.1412-4C>G2318FLNCLikely benign-1RCV002602526; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128480073128480073NC_000007.13:g.128480073C>G-
NM_001458.5(FLNC):c.1412-3del2318FLNCUncertain significance765490580RCV001222908; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284800741284800747:g.128480074_128480074del-
NM_001458.5(FLNC):c.1418A>G (p.Asn473Ser)2318FLNCUncertain significance747289343RCV002017195|RCV003170530; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128480083128480083128480083-
NM_001458.5(FLNC):c.1420C>T (p.Pro474Ser)2318FLNCUncertain significance1562993431RCV000691550; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128480085128480085NC_000007.13:g.128480085C>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1425C>T (p.Asn475=)2318FLNCBenign143610360RCV000321182|RCV000711675|RCV001082559|RCV002392818; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284800901284800907:g.128480090C>TClinGen:CA4474342C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1426G>T (p.Ala476Ser)2318FLNCConflicting interpretations of pathogenicity746359389RCV000549824|RCV002395436; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN2307367128480091128480091NC_000007.13:g.128480091G>TClinGen:CA4474343C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1428C>T (p.Ala476=)2318FLNCLikely benign1585155086RCV001444917; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284800931284800937:g.128480093C>T-
NM_001458.5(FLNC):c.1430G>C (p.Cys477Ser)2318FLNCLikely benign560530105RCV000525798; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284800951284800957:g.128480095G>CClinGen:CA4474344C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1432C>T (p.Arg478Cys)2318FLNCLikely benign780542423RCV001222987; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284800971284800977:g.128480097C>T-
NM_001458.5(FLNC):c.1433G>A (p.Arg478His)2318FLNCUncertain significance749593461RCV000706942|RCV002388348; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128480098128480098NC_000007.13:g.128480098G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1433G>C (p.Arg478Pro)2318FLNCUncertain significance-1RCV003006507; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128480098128480098NC_000007.13:g.128480098G>C-
NM_001458.5(FLNC):c.1434C>T (p.Arg478=)2318FLNCLikely benign201810745RCV000420726|RCV000537907|RCV001724000|RCV002393042; NMedGen:CN169374|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:C3661900|MedGen:CN23073671284800991284800997:g.128480099C>TClinGen:CA4474347C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1435G>A (p.Ala479Thr)2318FLNCConflicting interpretations of pathogenicity772697482RCV000649122|RCV003343976; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128480100128480100NC_000007.13:g.128480100G>AClinGen:CA4474348C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1437C>T (p.Ala479=)2318FLNCLikely benign760412891RCV001444384|RCV002396027; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN2307367128480102128480102128480102-
NM_001458.5(FLNC):c.1444C>T (p.Arg482Ter)2318FLNCConflicting interpretations of pathogenicity1420159591RCV000615997|RCV000701881|RCV002272301; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MONDO:MONDO:0014883,MedGen:C4317128480109128480109NC_000007.13:g.128480109C>TClinGen:CA369225516C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1445G>A (p.Arg482Gln)2318FLNCUncertain significance770337434RCV000538236|RCV002530187|RCV003231646; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MeSH:D030342,MedGen:C0950123|MedGen:CN51720271284801101284801107:g.128480110G>AClinGen:CA4474350C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1448G>A (p.Gly483Asp)2318FLNCUncertain significance1562993476RCV000700527|RCV003163253; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128480113128480113NC_000007.13:g.128480113G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1449C>G (p.Gly483=)2318FLNCLikely benign-1RCV002852169; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128480114128480114-
NM_001458.5(FLNC):c.1454A>G (p.Gln485Arg)2318FLNCUncertain significance1012536919RCV000555808; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284801191284801197:g.128480119A>GClinGen:CA166216071C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1458C>A (p.Pro486=)2318FLNCBenign2291563RCV000117065|RCV000711676|RCV001511957|RCV002390261; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN23073671284801231284801237:g.128480123C>AClinGen:CA152832CN169374 not specified;
NM_001458.5(FLNC):c.1463del (p.Gly488fs)2318FLNCPathogenic2128934867RCV001900236; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128480126128480126128480125-
NM_001458.5(FLNC):c.1468C>T (p.Arg490Cys)2318FLNCUncertain significance1422233407RCV001990880|RCV002221295|RCV002388974|RCV003150474; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|EFO:EFO_0000407,Human Phenotype Ontology:HP:0007128480133128480133128480133-
NM_001458.5(FLNC):c.1469G>A (p.Arg490His)2318FLNCConflicting interpretations of pathogenicity1046320257RCV000699919|RCV001585645|RCV002388302; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN517202|MedGen:CN23073671284801341284801347:g.128480134G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1469G>T (p.Arg490Leu)2318FLNCUncertain significance1046320257RCV001038909; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284801341284801347:g.128480134G>T-
NM_001458.5(FLNC):c.1470C>A (p.Arg490=)2318FLNCLikely benign765212618RCV001437265|RCV002390976; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284801351284801357:g.128480135C>A-
NM_001458.5(FLNC):c.1470C>T (p.Arg490=)2318FLNCLikely benign765212618RCV002088118|RCV003150480|RCV002391215; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|Human Phenotype Ontology:HP:0001638,MONDO:MONDO7128480135128480135128480135-
NM_001458.5(FLNC):c.1471G>C (p.Val491Leu)2318FLNCUncertain significance770264114RCV000213534|RCV001036640; NMedGen:CN169374|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128480136128480136NC_000007.13:g.128480136G>CClinGen:CA10576718CN169374 not specified;
NM_001458.5(FLNC):c.1471G>A (p.Val491Met)2318FLNCConflicting interpretations of pathogenicity770264114RCV000689009|RCV001569945|RCV002388218|RCV002477542; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:0017128480136128480136NC_000007.13:g.128480136G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1474A>G (p.Lys492Glu)2318FLNCConflicting interpretations of pathogenicity118056738RCV000527260|RCV002395437|RCV003144346|RCV003150271; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|MedGen:C3661900|Human Phenotype71284801391284801397:g.128480139A>GClinGen:CA4474355C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1484C>G (p.Ala495Gly)2318FLNCUncertain significance-1RCV002933602; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128480149128480149NC_000007.13:g.128480149C>G-
NM_001458.5(FLNC):c.1485T>C (p.Ala495=)2318FLNCLikely benign-1RCV003089754|RCV003161762; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128480150128480150-
NM_001458.5(FLNC):c.1491C>T (p.Phe497=)2318FLNCLikely benign1199428558RCV001404662|RCV002390952; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284801561284801567:g.128480156C>T-
NM_001458.5(FLNC):c.1492A>G (p.Lys498Glu)2318FLNCConflicting interpretations of pathogenicity781127889RCV000817733|RCV003145195; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN51720271284801571284801577:g.128480157A>G-
NM_001458.5(FLNC):c.1499T>C (p.Phe500Ser)2318FLNCUncertain significance2128934879RCV002025785|RCV003303623; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128480164128480164128480164-
NM_001458.5(FLNC):c.1502C>T (p.Thr501Ile)2318FLNCUncertain significance794727967RCV000180571|RCV001852253|RCV003278680; NMedGen:CN517202|MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284801671284801677:g.128480167C>TClinGen:CA248062CN169374 not specified;
NM_001458.5(FLNC):c.1503_1504dup (p.Lys502fs)2318FLNCPathogenic2128934883RCV001989956; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128480167128480168128480167-
NM_001458.5(FLNC):c.1503C>T (p.Thr501=)2318FLNCLikely benign-1RCV002780262; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128480168128480168-
NM_001458.5(FLNC):c.1505A>T (p.Lys502Met)2318FLNCConflicting interpretations of pathogenicity780486915RCV000731114|RCV000808233; NMedGen:CN517202|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128480170128480170NC_000007.13:g.128480170A>T-
NM_001458.5(FLNC):c.1506G>A (p.Lys502=)2318FLNCUncertain significance749823564RCV001985397; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128480171128480171128480171-
NM_001458.5(FLNC):c.1508G>A (p.Gly503Asp)2318FLNCUncertain significance1483134760RCV000788851|RCV001873218; NMedGen:CN517202|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN23931071284801731284801737:g.128480173G>A-
NM_001458.5(FLNC):c.1510G>A (p.Ala504Thr)2318FLNCUncertain significance1562993551RCV000705608; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128480175128480175NC_000007.13:g.128480175G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1512C>T (p.Ala504=)2318FLNCLikely benign-1RCV002392242|RCV003100697; NMedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128480177128480177-
NM_001458.5(FLNC):c.1513G>A (p.Gly505Ser)2318FLNCConflicting interpretations of pathogenicity200935123RCV000649151|RCV001570354|RCV002388127; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|MedGen:CN23073671284801781284801787:g.128480178G>AClinGen:CA4474365C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1519_1525del (p.Gly507fs)2318FLNCPathogenic1554398092RCV000547591; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128480181128480187NC_000007.13:g.128480184_128480190delClinGen:CA658657716C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1517G>A (p.Ser506Asn)2318FLNCUncertain significance1554398094RCV000649114; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284801821284801827:g.128480182G>AClinGen:CA369225796C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1518C>T (p.Ser506=)2318FLNCBenign/Likely benign368101036RCV000539725|RCV002395438; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284801831284801837:g.128480183C>TClinGen:CA4474367C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1519G>A (p.Gly507Arg)2318FLNCConflicting interpretations of pathogenicity189525930RCV000727134|RCV001084196|RCV002395142|RCV003150234; NMedGen:C3661900|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|Human Phenotype71284801841284801847:g.128480184G>AClinGen:CA4474368C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1525C>G (p.Leu509Val)2318FLNCUncertain significance-1RCV003055238; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128480190128480190NC_000007.13:g.128480190C>G-
NM_001458.5(FLNC):c.1528A>C (p.Lys510Gln)2318FLNCUncertain significance955475416RCV000479599|RCV000812939|RCV002395180; NMedGen:CN517202|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN23073671284801931284801937:g.128480193A>CClinGen:CA16618350CN169374 not specified;
NM_001458.5(FLNC):c.1530G>A (p.Lys510=)2318FLNCLikely benign-1RCV003048795; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128480195128480195-
NM_001458.5(FLNC):c.1533C>T (p.Val511=)2318FLNCLikely benign2128934896RCV002153613; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128480198128480198128480198-
NC_000007.13:g.(?_128480199)_(128481774_?)del2318FLNCLikely pathogenic-1RCV003107412; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128480199128481774-
NM_001458.5(FLNC):c.1535C>A (p.Thr512Lys)2318FLNCUncertain significance775538827RCV000649091; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284802001284802007:g.128480200C>AClinGen:CA369225867C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1535C>T (p.Thr512Met)2318FLNCConflicting interpretations of pathogenicity775538827RCV000952323|RCV001759674; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN51720271284802001284802007:g.128480200C>T-
NM_001458.5(FLNC):c.1536G>A (p.Thr512=)2318FLNCLikely benign1335788654RCV001474625|RCV002405117; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128480201128480201128480201-
NM_001458.5(FLNC):c.1536G>C (p.Thr512=)2318FLNCLikely benign1335788654RCV002149390; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128480201128480201128480201-
NM_001458.5(FLNC):c.1539C>G (p.Val513=)2318FLNCLikely benign2128934900RCV002165425; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128480204128480204128480204-
NM_001458.5(FLNC):c.1541A>C (p.Lys514Thr)2318FLNCUncertain significance375881193RCV000649160|RCV002477441; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:6170477128480206128480206NC_000007.13:g.128480206A>CClinGen:CA4474372C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1545G>T (p.Gly515=)2318FLNCLikely benign-1RCV002786727; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128480210128480210-
NM_001458.5(FLNC):c.1548_1549+2del2318FLNCConflicting interpretations of pathogenicity763330423RCV000704433|RCV003165906; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284802131284802167:g.128480213_128480216del-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1549+2T>G2318FLNCLikely pathogenic111806457RCV000527579|RCV001379263|RCV003302895|RCV003330798; NMedGen:CN239310|MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|Human Phenotype71284802161284802167:g.128480216T>GClinGen:CA166216228CN239310 Dilated Cardiomyopathy, Dominant;
NM_001458.5(FLNC):c.1549+7G>A2318FLNCLikely benign-1RCV002658368; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128480221128480221NC_000007.13:g.128480221G>A-
NM_001458.5(FLNC):c.1549+8C>T2318FLNCLikely benign-1RCV003049759; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128480222128480222NC_000007.13:g.128480222C>T-
NM_001458.5(FLNC):c.1549+15C>A2318FLNCBenign181134489RCV000250808|RCV000514366|RCV002058049; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284802291284802297:g.128480229C>AClinGen:CA4474378CN517202 not provided;
NM_001458.5(FLNC):c.1549+18G>C2318FLNCLikely benign756141780RCV002187273; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128480232128480232128480232-
NM_001458.5(FLNC):c.1550-18C>A2318FLNCLikely benign1453268797RCV002214961; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128480584128480584128480584-
NM_001458.5(FLNC):c.1550-8C>A2318FLNCLikely benign-1RCV003039529; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128480594128480594NC_000007.13:g.128480594C>A-
NM_001458.5(FLNC):c.1553G>A (p.Gly518Asp)2318FLNCUncertain significance1168879153RCV002013567; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128480605128480605128480605-
NM_001458.5(FLNC):c.1563G>A (p.Glu521=)2318FLNCLikely benign-1RCV002611976; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128480615128480615-
NM_001458.5(FLNC):c.1564C>G (p.Pro522Ala)2318FLNCUncertain significance1808287052RCV001066265; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284806161284806167:g.128480616C>G-
NM_001458.5(FLNC):c.1565C>T (p.Pro522Leu)2318FLNCUncertain significance-1RCV002914229; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128480617128480617NC_000007.13:g.128480617C>T-
NC_000007.13:g.(?_128480619)_(128486474_?)del2318FLNCPathogenic-1RCV003107411; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128480619128486474-
NM_001458.5(FLNC):c.1568T>C (p.Val523Ala)2318FLNCConflicting interpretations of pathogenicity182845462RCV000482713|RCV001083373|RCV002402376|RCV003150235; NMedGen:C3661900|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|Human Phenotype71284806201284806207:g.128480620T>CClinGen:CA4474400C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1576C>T (p.Arg526Trp)2318FLNCLikely benign758758113RCV000532188|RCV002404518; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284806281284806287:g.128480628C>TClinGen:CA4474402C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1577G>A (p.Arg526Gln)2318FLNCBenign/Likely benign34932223RCV000173741|RCV000544670|RCV001573925|RCV002390419; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:C3661900|MedGen:CN23073671284806291284806297:g.128480629G>AClinGen:CA200695C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1581G>A (p.Glu527=)2318FLNCLikely benign267601277RCV002994653; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128480633128480633NC_000007.13:g.128480633G>A-
NM_001458.5(FLNC):c.1584T>C (p.Ala528=)2318FLNCLikely benign1585155668RCV001493969|RCV002400041; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284806361284806367:g.128480636T>C-
NM_001458.5(FLNC):c.1584T>G (p.Ala528=)2318FLNCLikely benign-1RCV002654749; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128480636128480636-
NM_001458.5(FLNC):c.1586G>T (p.Gly529Val)2318FLNCUncertain significance2128935018RCV001938737; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128480638128480638128480638-
NM_001458.5(FLNC):c.1589_1602del (p.Asp530fs)2318FLNCPathogenic-1RCV002824865; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128480640128480653NC_000007.13:g.128480641_128480654del-
NM_001458.5(FLNC):c.1589A>T (p.Asp530Val)2318FLNCUncertain significance1371853934RCV000552589; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284806411284806417:g.128480641A>TClinGen:CA369226542C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1591G>A (p.Gly531Ser)2318FLNCUncertain significance779855512RCV001996922; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128480643128480643128480643-
NM_001458.5(FLNC):c.1593_1600del (p.Phe533fs)2318FLNCPathogenic-1RCV003003305; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128480644128480651NC_000007.13:g.128480645_128480652del-
NM_001458.5(FLNC):c.1598T>G (p.Phe533Cys)2318FLNCUncertain significance-1RCV002760425; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128480650128480650NC_000007.13:g.128480650T>G-
NM_001458.5(FLNC):c.1599C>A (p.Phe533Leu)2318FLNCUncertain significance768072902RCV000649081; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128480651128480651NC_000007.13:g.128480651C>AClinGen:CA369226578C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1599C>T (p.Phe533=)2318FLNCLikely benign768072902RCV001459073|RCV002405078; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128480651128480651128480651-
NM_001458.5(FLNC):c.1600G>A (p.Glu534Lys)2318FLNCConflicting interpretations of pathogenicity201905890RCV000173740|RCV001085177|RCV001818414|RCV002399619; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN169374|MedGen:CN2307367128480652128480652NC_000007.13:g.128480652G>AClinGen:CA239199C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1600G>C (p.Glu534Gln)2318FLNCUncertain significance201905890RCV001967424|RCV002503647; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:6170477128480652128480652128480652-
NM_001458.5(FLNC):c.1603T>G (p.Cys535Gly)2318FLNCUncertain significance1808289781RCV001233003; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284806551284806557:g.128480655T>G-
NM_001458.5(FLNC):c.1605C>T (p.Cys535=)2318FLNCConflicting interpretations of pathogenicity199976790RCV000546180|RCV002404519|RCV001577625|RCV002483470; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:00171284806571284806577:g.128480657C>TClinGen:CA4474408C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1605C>A (p.Cys535Ter)2318FLNCPathogenic199976790RCV000649082; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284806571284806577:g.128480657C>AClinGen:CA369226597C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1606G>A (p.Glu536Lys)2318FLNCConflicting interpretations of pathogenicity141616435RCV000558576|RCV003144347|RCV002404520|RCV002497173; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:00171284806581284806587:g.128480658G>AClinGen:CA4474409C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1607A>G (p.Glu536Gly)2318FLNCUncertain significance2128935033RCV001908454; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128480659128480659128480659-
NM_001458.5(FLNC):c.1608G>A (p.Glu536=)2318FLNCBenign/Likely benign549086803RCV001703292|RCV002077158|RCV002388634; NMedGen:C3661900|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128480660128480660128480660-
NM_001458.5(FLNC):c.1609T>G (p.Tyr537Asp)2318FLNCUncertain significance760471547RCV001215401; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284806611284806617:g.128480661T>G-
NM_001458.5(FLNC):c.1614C>T (p.Tyr538=)2318FLNCBenign76046880RCV000117067|RCV000534609|RCV001573753|RCV002399483; NMedGen:CN169374|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:C3661900|MedGen:CN23073671284806661284806667:g.128480666C>TClinGen:CA152838C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1616C>T (p.Pro539Leu)2318FLNCConflicting interpretations of pathogenicity375570393RCV000804565|RCV001726333|RCV002397632; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C3661900|MedGen:CN23073671284806681284806687:g.128480668C>T-
NM_001458.5(FLNC):c.1617G>A (p.Pro539=)2318FLNCLikely benign369222964RCV000547083|RCV002404521; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128480669128480669NC_000007.13:g.128480669G>AClinGen:CA4474413C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1617G>C (p.Pro539=)2318FLNCLikely benign369222964RCV001433461; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128480669128480669128480669-
NM_001458.5(FLNC):c.1618G>T (p.Val540Leu)2318FLNCUncertain significance551472827RCV001370197; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128480670128480670128480670-
NM_001458.5(FLNC):c.1620G>A (p.Val540=)2318FLNCLikely benign2128935043RCV002214063; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128480672128480672128480672-
NM_001458.5(FLNC):c.1628G>A (p.Gly543Glu)2318FLNCUncertain significance1221769888RCV001875373|RCV002397845; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128480680128480680128480680-
NM_001458.5(FLNC):c.1632G>A (p.Lys544=)2318FLNCLikely benign566538377RCV001394969|RCV002400075; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN23073671284806841284806847:g.128480684G>A-
NM_001458.5(FLNC):c.1641G>C (p.Val547=)2318FLNCLikely benign202142168RCV001408330|RCV002404958|RCV003426081; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MedGen:C36619007128480693128480693128480693-
NM_001458.5(FLNC):c.1645A>G (p.Ile549Val)2318FLNCUncertain significance547997371RCV000480032|RCV000686907|RCV002395178; NMedGen:CN517202|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN23073671284806971284806977:g.128480697A>GClinGen:CA4474418C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1649C>T (p.Thr550Met)2318FLNCUncertain significance779802575RCV001936529|RCV003146373; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C36619007128480701128480701128480701-
NM_001458.5(FLNC):c.1650G>A (p.Thr550=)2318FLNCLikely benign754474889RCV000883379|RCV002399979; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284807021284807027:g.128480702G>A-
NM_001458.5(FLNC):c.1654G>T (p.Gly552Cys)2318FLNCUncertain significance-1RCV003035109; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128480706128480706NC_000007.13:g.128480706G>T-
NM_001458.5(FLNC):c.1656C>T (p.Gly552=)2318FLNCLikely benign1585155760RCV001410030|RCV002400131; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN23073671284807081284807087:g.128480708C>T-
NM_001458.5(FLNC):c.1657G>A (p.Gly553Ser)2318FLNCBenign/Likely benign201572079RCV000659089|RCV001080056|RCV002395439; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284807091284807097:g.128480709G>AClinGen:CA4474424C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1662C>T (p.Tyr554=)2318FLNCLikely benign376975967RCV000877354|RCV002399966; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284807141284807147:g.128480714C>T-
NM_001458.5(FLNC):c.1662C>A (p.Tyr554Ter)2318FLNCPathogenic376975967RCV001941736; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128480714128480714128480714-
NM_001458.5(FLNC):c.1663G>A (p.Ala555Thr)2318FLNCUncertain significance1163059574RCV001938614|RCV002388837; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128480715128480715128480715-
NM_001458.5(FLNC):c.1670del (p.Pro557fs)2318FLNCPathogenic2128935054RCV001383973; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128480720128480720128480719-
NM_001458.5(FLNC):c.1672C>T (p.Arg558Cys)2318FLNCUncertain significance370326975RCV001347004; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128480724128480724128480724-
NM_001458.5(FLNC):c.1673G>A (p.Arg558His)2318FLNCConflicting interpretations of pathogenicity776881635RCV000649074|RCV001766401|RCV003372788; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN517202|MedGen:CN2307367128480725128480725NC_000007.13:g.128480725G>AClinGen:CA4474430C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1673G>T (p.Arg558Leu)2318FLNCConflicting interpretations of pathogenicity776881635RCV001037813|RCV002400224|RCV003145261; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MedGen:CN51720271284807251284807257:g.128480725G>T-
NM_001458.5(FLNC):c.1676+1G>A2318FLNCLikely pathogenic111452612RCV000540163|RCV001379592; NMedGen:CN239310|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128480729128480729NC_000007.13:g.128480729G>AClinGen:CA369226826CN239310 Dilated Cardiomyopathy, Dominant;
NM_001458.5(FLNC):c.1676+2dup2318FLNCUncertain significance2128935058RCV001913614; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128480729128480730128480729-
NM_001458.5(FLNC):c.1676+9C>T2318FLNCLikely benign568005957RCV001444099; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128480737128480737128480737-
NM_001458.5(FLNC):c.1676+13C>T2318FLNCLikely benign927536334RCV002215163; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128480741128480741128480741-
NM_001458.5(FLNC):c.1676+20dup2318FLNCBenign751788846RCV002087930; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128480742128480743128480742-
NM_001458.5(FLNC):c.1676+14G>T2318FLNCLikely benign775501421RCV002212546; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128480742128480742128480742-
NM_001458.5(FLNC):c.1676+15C>T2318FLNCLikely benign763127950RCV002197510; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128480743128480743128480743-
NM_001458.5(FLNC):c.1676+16C>T2318FLNCLikely benign764636531RCV002109129; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128480744128480744128480744-
NM_001458.5(FLNC):c.1676+20C>T2318FLNCLikely benign-1RCV002636384; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128480748128480748NC_000007.13:g.128480748C>T-
NM_001458.5(FLNC):c.1677-16C>A2318FLNCLikely benign-1RCV003063227; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128480872128480872NC_000007.13:g.128480872C>A-
NM_001458.5(FLNC):c.1677-14C>T2318FLNCLikely benign562609616RCV002162205; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128480874128480874128480874-
NM_001458.5(FLNC):c.1677-14C>A2318FLNCLikely benign-1RCV003056435; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128480874128480874NC_000007.13:g.128480874C>A-
NM_001458.5(FLNC):c.1677-12C>T2318FLNCLikely benign763076781RCV002225981|RCV003089200; NMedGen:C3661900|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128480876128480876128480876-
NM_001458.5(FLNC):c.1677-12C>G2318FLNCLikely benign-1RCV002909728; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128480876128480876NC_000007.13:g.128480876C>G-
NM_001458.5(FLNC):c.1688T>C (p.Val563Ala)2318FLNCUncertain significance774963796RCV001207701|RCV002411765|RCV002491628; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|MONDO:MONDO:0012289,MedGen:C18371284808991284808997:g.128480899T>C-
NM_001458.5(FLNC):c.1693G>A (p.Val565Met)2318FLNCUncertain significance-1RCV002512346|RCV002569454; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128480904128480904NC_000007.13:g.128480904G>A-
NM_001458.5(FLNC):c.1695G>A (p.Val565=)2318FLNCLikely benign982956977RCV001434133; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN23931071284809061284809067:g.128480906G>A-
NM_001458.5(FLNC):c.1696A>T (p.Ser566Cys)2318FLNCUncertain significance-1RCV003031875; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128480907128480907NC_000007.13:g.128480907A>T-
NM_001458.5(FLNC):c.1698C>T (p.Ser566=)2318FLNCConflicting interpretations of pathogenicity112194548RCV000174053|RCV001081245|RCV002399620|RCV003150045; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|Human Phenotype71284809091284809097:g.128480909C>TClinGen:CA239521C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1706C>T (p.Ala569Val)2318FLNCUncertain significance2128935115RCV002045205; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128480917128480917128480917-
NM_001458.5(FLNC):c.1710A>T (p.Gly570=)2318FLNCLikely benign-1RCV002815335; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128480921128480921-
NM_001458.5(FLNC):c.1711G>A (p.Val571Met)2318FLNCUncertain significance1194021325RCV002019927; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128480922128480922128480922-
NM_001458.5(FLNC):c.1712T>C (p.Val571Ala)2318FLNCUncertain significance750817835RCV001206682; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284809231284809237:g.128480923T>C-
NM_001458.5(FLNC):c.1713G>C (p.Val571=)2318FLNCLikely benign-1RCV002716969; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128480924128480924-
NM_001458.5(FLNC):c.1716A>G (p.Gln572=)2318FLNCLikely benign-1RCV002785358; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128480927128480927-
NM_001458.5(FLNC):c.1723C>T (p.Arg575Trp)2318FLNCUncertain significance761117952RCV000813157; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284809341284809347:g.128480934C>T-
NM_001458.5(FLNC):c.1723C>A (p.Arg575=)2318FLNCUncertain significance-1RCV002872772; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128480934128480934-
NM_001458.5(FLNC):c.1724G>C (p.Arg575Pro)2318FLNCUncertain significance764751276RCV001208933; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284809351284809357:g.128480935G>C-
NM_001458.5(FLNC):c.1724G>A (p.Arg575Gln)2318FLNCUncertain significance764751276RCV001979042|RCV002397977; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128480935128480935128480935-
NM_001458.5(FLNC):c.1728C>G (p.Ala576=)2318FLNCLikely benign370464621RCV001414967|RCV001697996|RCV002404662; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:C3661900|MedGen:CN23073671284809391284809397:g.128480939C>GClinGen:CA4474461CN169374 not specified;
NM_001458.5(FLNC):c.1728C>A (p.Ala576=)2318FLNCLikely benign370464621RCV002216490; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128480939128480939128480939-
NM_001458.5(FLNC):c.1729T>G (p.Trp577Gly)2318FLNCUncertain significance757878206RCV002002686|RCV002407218; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128480940128480940128480940-
NM_001458.5(FLNC):c.1730G>A (p.Trp577Ter)2318FLNCPathogenic2128935124RCV001993075; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128480941128480941128480941-
NM_001458.5(FLNC):c.1735C>A (p.Pro579Thr)2318FLNCUncertain significance1808303402RCV001204450|RCV002402587; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284809461284809467:g.128480946C>A-
NM_001458.5(FLNC):c.1748C>T (p.Thr583Ile)2318FLNCUncertain significance2128935128RCV001983607|RCV002398068; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128480959128480959128480959-
NM_001458.5(FLNC):c.1749T>C (p.Thr583=)2318FLNCLikely benign781196373RCV001419270; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128480960128480960128480960-
NM_001458.5(FLNC):c.1757T>C (p.Val586Ala)2318FLNCConflicting interpretations of pathogenicity374132023RCV000536394|RCV001662580|RCV002413596|RCV002483471; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:00171284809681284809687:g.128480968T>CClinGen:CA4474467C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1758G>A (p.Val586=)2318FLNCLikely benign-1RCV002401630|RCV003121012; NMedGen:CN230736|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128480969128480969-
NM_001458.5(FLNC):c.1766C>T (p.Ser589Leu)2318FLNCConflicting interpretations of pathogenicity780098760RCV000703671|RCV002406641|RCV002477623; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|MONDO:MONDO:0013550,MedGen:C32771284809771284809777:g.128480977C>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1770C>T (p.Ala590=)2318FLNCLikely benign367987438RCV001431898|RCV002409178; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284809811284809817:g.128480981C>T-
NM_001458.5(FLNC):c.1771G>A (p.Asp591Asn)2318FLNCUncertain significance768829742RCV000801264|RCV002534674; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MeSH:D030342,MedGen:C095012371284809821284809827:g.128480982G>A-
NM_001458.5(FLNC):c.1773T>C (p.Asp591=)2318FLNCBenign-1RCV002635475; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128480984128480984-
NM_001458.5(FLNC):c.1782G>A (p.Val594=)2318FLNCUncertain significance1317106205RCV001891363; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128480993128480993128480993-
NM_001458.5(FLNC):c.1797C>T (p.Thr599=)2318FLNCLikely benign773793586RCV000433756|RCV000527948|RCV002411341; NMedGen:CN169374|MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284810081284810087:g.128481008C>TClinGen:CA4474475C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1798G>A (p.Glu600Lys)2318FLNCUncertain significance760911646RCV001922762; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128481009128481009128481009-
NM_001458.5(FLNC):c.1800G>A (p.Glu600=)2318FLNCLikely benign775105479RCV001407924; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128481011128481011128481011-
NM_001458.5(FLNC):c.1801G>A (p.Val601Met)2318FLNCUncertain significance762652248RCV001910664; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128481012128481012128481012-
NM_001458.5(FLNC):c.1802T>C (p.Val601Ala)2318FLNCConflicting interpretations of pathogenicity763590899RCV000649154|RCV000786311|RCV002406443; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN517202|MedGen:CN23073671284810131284810137:g.128481013T>CClinGen:CA4474480C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1809A>G (p.Thr603=)2318FLNCLikely benign751006360RCV001489778; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128481020128481020128481020-
NM_001458.5(FLNC):c.1810C>T (p.Leu604=)2318FLNCLikely benign1554398303RCV000649235; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481021128481021NC_000007.13:g.128481021C>TClinGen:CA457846547C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1811T>C (p.Leu604Pro)2318FLNCUncertain significance-1RCV003055244; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481022128481022NC_000007.13:g.128481022T>C-
NM_001458.5(FLNC):c.1813G>A (p.Gly605Ser)2318FLNCUncertain significance1562994122RCV000690844; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128481024128481024NC_000007.13:g.128481024G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1813+9C>A2318FLNCLikely benign-1RCV002835239; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481033128481033NC_000007.13:g.128481033C>A-
NM_001458.5(FLNC):c.1813+10T>A2318FLNCLikely benign756806116RCV000649249; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481034128481034NC_000007.13:g.128481034T>AClinGen:CA4474482C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1813+16dup2318FLNCBenign-1RCV003052604; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481034128481035NC_000007.13:g.128481040dup-
NM_001458.5(FLNC):c.1813+11G>T2318FLNCConflicting interpretations of pathogenicity138716837RCV000328069|RCV000726499|RCV002059293; NMedGen:CN169374|MedGen:C3661900|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284810351284810357:g.128481035G>TClinGen:CA4474483CN169374 not specified;
NM_001458.5(FLNC):c.1813+12G>A2318FLNCBenign750404224RCV001652000|RCV002073009; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481036128481036128481036-
NM_001458.5(FLNC):c.1813+16G>A2318FLNCLikely benign-1RCV002658003; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481040128481040NC_000007.13:g.128481040G>A-
NM_001458.5(FLNC):c.1813+18AGG[2]2318FLNCLikely benign-1RCV003084355; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481042128481044NC_000007.13:g.128481042AGG[2]-
NM_001458.5(FLNC):c.1814-14C>T2318FLNCLikely benign-1RCV002730566; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481210128481210NC_000007.13:g.128481210C>T-
NM_001458.5(FLNC):c.1814-13C>A2318FLNCLikely benign766268709RCV000606816|RCV002063064; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284812111284812117:g.128481211C>AClinGen:CA4474504CN169374 not specified;
NM_001458.5(FLNC):c.1814-13C>T2318FLNCLikely benign766268709RCV002141399; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128481211128481211128481211-
NM_001458.5(FLNC):c.1814-12A>G2318FLNCLikely benign-1RCV003104848; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481212128481212NC_000007.13:g.128481212A>G-
NM_001458.5(FLNC):c.1814-11C>T2318FLNCLikely benign-1RCV002853255; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481213128481213NC_000007.13:g.128481213C>T-
NM_001458.5(FLNC):c.1814-7G>A2318FLNCLikely benign2128935218RCV001412909; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128481217128481217128481217-
NM_001458.5(FLNC):c.1814-6C>G2318FLNCLikely benign-1RCV003039967; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481218128481218NC_000007.13:g.128481218C>G-
NM_001458.5(FLNC):c.1814-4C>G2318FLNCLikely benign-1RCV002824285; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481220128481220NC_000007.13:g.128481220C>G-
NM_001458.5(FLNC):c.1814-3C>G2318FLNCUncertain significance1162747854RCV001343798; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128481221128481221128481221-
NM_001458.5(FLNC):c.1814G>C (p.Gly605Ala)2318FLNCUncertain significance-1RCV003064177; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481224128481224NC_000007.13:g.128481224G>C-
NM_001458.5(FLNC):c.1815C>T (p.Gly605=)2318FLNCLikely benign2128935228RCV002201709; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481225128481225128481225-
NM_001458.5(FLNC):c.1816T>G (p.Phe606Val)2318FLNCUncertain significance1808316775RCV001350561; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128481226128481226128481226-
NM_001458.5(FLNC):c.1818C>T (p.Phe606=)2318FLNCLikely benign1404509377RCV002407379|RCV002214615; NMedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128481228128481228128481228-
NM_001458.5(FLNC):c.1822A>G (p.Ile608Val)2318FLNCLikely benign779240577RCV001350661; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128481232128481232128481232-
NM_001458.5(FLNC):c.1824C>G (p.Ile608Met)2318FLNCUncertain significance753007069RCV000685387; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284812341284812347:g.128481234C>G-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1824C>T (p.Ile608=)2318FLNCLikely benign-1RCV002410404|RCV003097276; NMedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128481234128481234-
NM_001458.5(FLNC):c.1825G>A (p.Glu609Lys)2318FLNCUncertain significance758389160RCV000548907|RCV002413597; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284812351284812357:g.128481235G>AClinGen:CA4474509C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1825G>C (p.Glu609Gln)2318FLNCUncertain significance758389160RCV001040561; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284812351284812357:g.128481235G>C-
NM_001458.5(FLNC):c.1830G>C (p.Gly610=)2318FLNCLikely benign747467683RCV002172092; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128481240128481240128481240-
NM_001458.5(FLNC):c.1833C>T (p.Pro611=)2318FLNCLikely benign771403245RCV000955637|RCV002409274|RCV003432961; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN230736|MedGen:C366190071284812431284812437:g.128481243C>T-
NM_001458.5(FLNC):c.1840G>A (p.Ala614Thr)2318FLNCConflicting interpretations of pathogenicity746183882RCV001301248|RCV002286577|RCV003284151; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:6095247128481250128481250128481250-
NM_001458.5(FLNC):c.1844dup (p.Ile616fs)2318FLNCPathogenic1808318504RCV001066987; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284812521284812537:g.128481252_128481253insA-
NM_001458.5(FLNC):c.1848C>G (p.Ile616Met)2318FLNCUncertain significance770173704RCV000524898; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284812581284812587:g.128481258C>GClinGen:CA369227203C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1848C>T (p.Ile616=)2318FLNCLikely benign770173704RCV001503700|RCV001546036|RCV002414224; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:C3661900|MedGen:CN2307367128481258128481258128481258-
NM_001458.5(FLNC):c.1848C>A (p.Ile616=)2318FLNCLikely benign-1RCV003071946; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481258128481258-
NM_001458.5(FLNC):c.1849G>A (p.Glu617Lys)2318FLNCConflicting interpretations of pathogenicity773961444RCV001931219|RCV003146369; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C36619007128481259128481259128481259-
NM_001458.5(FLNC):c.1849G>T (p.Glu617Ter)2318FLNCPathogenic-1RCV002863827; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481259128481259NC_000007.13:g.128481259G>T-
NM_001458.5(FLNC):c.1851A>G (p.Glu617=)2318FLNCLikely benign199715890RCV002066342|RCV002409273; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310|MedGen:CN23073671284812611284812617:g.128481261A>G-
NM_001458.5(FLNC):c.1851A>T (p.Glu617Asp)2318FLNCUncertain significance199715890RCV001226458; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284812611284812617:g.128481261A>T-
NM_001458.5(FLNC):c.1857C>T (p.Asp619=)2318FLNCLikely benign771469976RCV000649219|RCV001078484|RCV002406444; NMedGen:CN517202|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128481267128481267NC_000007.13:g.128481267C>TClinGen:CA4474518C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1857C>G (p.Asp619Glu)2318FLNCUncertain significance771469976RCV001247408; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284812671284812677:g.128481267C>G-
NM_001458.5(FLNC):c.1858G>C (p.Asp620His)2318FLNCUncertain significance567514134RCV000698623; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128481268128481268NC_000007.13:g.128481268G>C-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1858G>A (p.Asp620Asn)2318FLNCUncertain significance567514134RCV001245117|RCV002411902; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284812681284812687:g.128481268G>A-
NM_001458.5(FLNC):c.1861_1885dup (p.Arg629fs)2318FLNCPathogenic1585156327RCV000821675; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284812691284812707:g.128481269_128481270insCAAGGGGGATGGCTCCTGCGATGTG-
NM_001458.5(FLNC):c.1862A>T (p.Lys621Met)2318FLNCUncertain significance-1RCV002304757; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128481272128481272128481272-
NM_001458.5(FLNC):c.1866_1867del (p.Asp623fs)2318FLNCPathogenic-1RCV003065951; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481273128481274NC_000007.13:g.128481276_128481277del-
NM_001458.5(FLNC):c.1866G>A (p.Gly622=)2318FLNCLikely benign2128935248RCV002220828; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128481276128481276128481276-
NM_001458.5(FLNC):c.1867G>A (p.Asp623Asn)2318FLNCUncertain significance912680912RCV001346054|RCV002412088; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128481277128481277128481277-
NM_001458.5(FLNC):c.1871G>C (p.Gly624Ala)2318FLNCUncertain significance-1RCV002851365; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481281128481281NC_000007.13:g.128481281G>C-
NM_001458.5(FLNC):c.1872C>T (p.Gly624=)2318FLNCLikely benign2128935252RCV002137846; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128481282128481282128481282-
NM_001458.5(FLNC):c.1878C>T (p.Cys626=)2318FLNCLikely benign369735636RCV002133750|RCV002409570; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN2307367128481288128481288128481288-
NM_001458.5(FLNC):c.1879G>A (p.Asp627Asn)2318FLNCUncertain significance1256634062RCV001900866; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128481289128481289128481289-
NM_001458.5(FLNC):c.1881T>C (p.Asp627=)2318FLNCLikely benign2128935255RCV002157487; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128481291128481291128481291-
NM_001458.5(FLNC):c.1882G>A (p.Val628Met)2318FLNCUncertain significance-1RCV003085951; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481292128481292NC_000007.13:g.128481292G>A-
NM_001458.5(FLNC):c.1885C>T (p.Arg629Trp)2318FLNCConflicting interpretations of pathogenicity759376455RCV000823088|RCV001579972|RCV002221253; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MONDO:MONDO:0013550,MedGen:C32771284812951284812957:g.128481295C>T-
NM_001458.5(FLNC):c.1886G>A (p.Arg629Gln)2318FLNCConflicting interpretations of pathogenicity765173966RCV000816208|RCV001702721|RCV002406859; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN23073671284812961284812967:g.128481296G>A-
NM_001458.5(FLNC):c.1890C>G (p.Tyr630Ter)2318FLNCPathogenic2128935258RCV001924347; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481300128481300128481300-
NM_001458.5(FLNC):c.1890C>T (p.Tyr630=)2318FLNCLikely benign-1RCV002876626; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481300128481300-
NM_001458.5(FLNC):c.1893G>C (p.Trp631Cys)2318FLNCUncertain significance1808320936RCV001219075; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284813031284813037:g.128481303G>C-
NM_001458.5(FLNC):c.1893G>A (p.Trp631Ter)2318FLNCPathogenic1808320936RCV001388350; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128481303128481303128481303-
NM_001458.5(FLNC):c.1895C>A (p.Pro632His)2318FLNCUncertain significance1482049894RCV001892803; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128481305128481305128481305-
NM_001458.5(FLNC):c.1896C>T (p.Pro632=)2318FLNCLikely benign1013540977RCV002131439; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128481306128481306128481306-
NM_001458.5(FLNC):c.1898C>T (p.Thr633Met)2318FLNCConflicting interpretations of pathogenicity1187790496RCV000800296|RCV001592985; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C366190071284813081284813087:g.128481308C>T-
NM_001458.5(FLNC):c.1899G>A (p.Thr633=)2318FLNCBenign/Likely benign553903798RCV001593212|RCV001044656|RCV002409406; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284813091284813097:g.128481309G>A-
NM_001458.5(FLNC):c.1902G>A (p.Glu634=)2318FLNCBenign/Likely benign12536635RCV000174300|RCV000541893|RCV001080126|RCV002408757; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN23073671284813121284813127:g.128481312G>AClinGen:CA200929C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1903C>T (p.Pro635Ser)2318FLNCUncertain significance-1RCV003077103|RCV003060809; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481313128481313NC_000007.13:g.128481313C>T-
NM_001458.5(FLNC):c.1908G>A (p.Gly636=)2318FLNCLikely benign2128935267RCV001455282; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128481318128481318128481318-
NM_001458.5(FLNC):c.1910A>G (p.Glu637Gly)2318FLNCLikely benign536328437RCV002023349; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128481320128481320128481320-
NM_001458.5(FLNC):c.1914C>G (p.Tyr638Ter)2318FLNCPathogenic757352623RCV001381189; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128481324128481324128481324-
NM_001458.5(FLNC):c.1915G>A (p.Ala639Thr)2318FLNCUncertain significance1175392094RCV000813384; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284813251284813257:g.128481325G>A-
NM_001458.5(FLNC):c.1917T>G (p.Ala639=)2318FLNCLikely benign781632907RCV002189444; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128481327128481327128481327-
NM_001458.5(FLNC):c.1923C>T (p.His641=)2318FLNCLikely benign375361259RCV000553799|RCV000615952|RCV001702512|RCV002413598; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN169374|MedGen:CN517202|MedGen:CN23073671284813331284813337:g.128481333C>TClinGen:CA4474530C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1924G>A (p.Val642Ile)2318FLNCConflicting interpretations of pathogenicity369387744RCV000525252|RCV001546268|RCV001824825|RCV002413599; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:C3661900|MedGen:CN169374|MedGen:CN23073671284813341284813347:g.128481334G>AClinGen:CA4474531C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1927A>G (p.Ile643Val)2318FLNCUncertain significance1808322583RCV002047003; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128481337128481337128481337-
NM_001458.5(FLNC):c.1927A>C (p.Ile643Leu)2318FLNCUncertain significance1808322583RCV001978455; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128481337128481337128481337-
NM_001458.5(FLNC):c.1932del (p.Cys644fs)2318FLNCUncertain significance-1RCV003140298; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128481342128481342NC_000007.13:g.128481342del-
NM_001458.5(FLNC):c.1935_1937del (p.Asp646del)2318FLNCUncertain significance765300084RCV000542255|RCV002491077|RCV002413600|RCV003144348; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:6095247128481343128481345NC_000007.13:g.128481345_128481347delClinGen:CA4474532C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1934A>C (p.Asp645Ala)2318FLNCUncertain significance1554398369RCV000649152|RCV003153789; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN51720271284813441284813447:g.128481344A>CClinGen:CA369227397C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1935C>T (p.Asp645=)2318FLNCLikely benign-1RCV002610262; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481345128481345-
NM_001458.5(FLNC):c.1936G>A (p.Asp646Asn)2318FLNCConflicting interpretations of pathogenicity372668691RCV000817903|RCV001702722; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN51720271284813461284813467:g.128481346G>A-
NM_001458.5(FLNC):c.1938T>A (p.Asp646Glu)2318FLNCUncertain significance1347868577RCV001890319; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128481348128481348128481348-
NM_001458.5(FLNC):c.1945_1953dup (p.Ile649_Asp651dup)2318FLNCUncertain significance1554398377RCV000554717; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284813511284813527:g.128481351_128481352insGACATCCGAClinGen:CA658657717C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1948C>T (p.Arg650Ter)2318FLNCPathogenic770606675RCV000479811|RCV000552507|RCV002413329; NMedGen:CN517202|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN23073671284813581284813587:g.128481358C>TClinGen:CA16618351C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1948C>G (p.Arg650Gly)2318FLNCUncertain significance770606675RCV000685417; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284813581284813587:g.128481358C>G-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1953C>T (p.Asp651=)2318FLNCBenign/Likely benign554570268RCV001516055|RCV002421166|RCV003426168; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|MedGen:C36619007128481363128481363128481363-
NM_001458.5(FLNC):c.1958C>T (p.Pro653Leu)2318FLNCUncertain significance1808324139RCV001325043; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128481368128481368128481368-
NM_001458.5(FLNC):c.1962C>T (p.Phe654=)2318FLNCLikely benign1585156448RCV001503224|RCV002416175; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284813721284813727:g.128481372C>T-
NM_001458.5(FLNC):c.1963A>G (p.Ile655Val)2318FLNCUncertain significance2128935277RCV001370612; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128481373128481373128481373-
NM_001458.5(FLNC):c.1965_1966del (p.Ala656fs)2318FLNCPathogenic/Likely pathogenic1585156450RCV001008981|RCV001388841; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284813751284813767:g.128481375_128481376del-
NM_001458.5(FLNC):c.1975C>G (p.Leu659Val)2318FLNCUncertain significance-1RCV002715920; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481385128481385NC_000007.13:g.128481385C>G-
NM_001458.5(FLNC):c.1976T>G (p.Leu659Arg)2318FLNCBenign/Likely benign576402053RCV000350055|RCV000877929|RCV001697710|RCV002418134; NMedGen:CN169374|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C3661900|MedGen:CN23073671284813861284813867:g.128481386T>GClinGen:CA4474541CN169374 not specified;
NM_001458.5(FLNC):c.1979C>T (p.Pro660Leu)2318FLNCUncertain significance775292418RCV001942914|RCV002423028; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128481389128481389128481389-
NM_001458.5(FLNC):c.1980C>T (p.Pro660=)2318FLNCLikely benign762673516RCV000531330|RCV002420498; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128481390128481390NC_000007.13:g.128481390C>TClinGen:CA4474543C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.1981G>A (p.Ala661Thr)2318FLNCUncertain significance1480694554RCV001761104|RCV002421268|RCV002539149; NMedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128481391128481391128481391-
NM_001458.5(FLNC):c.1991_1994del (p.Asp664fs)2318FLNCPathogenic2128935287RCV001380510; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128481398128481401128481397-
NM_001458.5(FLNC):c.2007+6G>A2318FLNCUncertain significance757293841RCV001942953; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128481423128481423128481423-
NM_001458.5(FLNC):c.2007+10C>T2318FLNCLikely benign2128935294RCV002199356; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128481427128481427128481427-
NM_001458.5(FLNC):c.2007+12G>A2318FLNCLikely benign-1RCV002848201; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481429128481429NC_000007.13:g.128481429G>A-
NM_001458.5(FLNC):c.2007+18_2007+23del2318FLNCLikely benign1808326543RCV002110743; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128481432128481437128481431-
NM_001458.5(FLNC):c.2007+17C>T2318FLNCLikely benign-1RCV002711318; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481434128481434NC_000007.13:g.128481434C>T-
NM_001458.5(FLNC):c.2008-18C>A2318FLNCLikely benign763833533RCV002075184; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128481490128481490128481490-
NM_001458.5(FLNC):c.2008-14T>G2318FLNCLikely benign1057460428RCV002216256; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481494128481494128481494-
NM_001458.5(FLNC):c.2008-12C>T2318FLNCLikely benign774607151RCV002090477; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128481496128481496128481496-
NM_001458.5(FLNC):c.2008-10C>T2318FLNCLikely benign2128935323RCV002217275; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128481498128481498128481498-
NM_001458.5(FLNC):c.2008-9T>C2318FLNCLikely benign2128935326RCV002180678; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128481499128481499128481499-
NM_001458.5(FLNC):c.2008-7C>T2318FLNCConflicting interpretations of pathogenicity767576240RCV000174509|RCV000649255; NMedGen:CN517202|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284815011284815017:g.128481501C>TClinGen:CA240056C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2008-6G>A2318FLNCLikely benign577813339RCV001500513|RCV002504474; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:6095247128481502128481502128481502-
NM_001458.5(FLNC):c.2008-6G>T2318FLNCLikely benign577813339RCV002113975; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128481502128481502128481502-
NM_001458.5(FLNC):c.2008-5C>T2318FLNCLikely benign2128935333RCV001409623; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128481503128481503128481503-
NM_001458.5(FLNC):c.2008-5del2318FLNCLikely benign2128935334RCV002158567; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481503128481503128481502-
NM_001458.5(FLNC):c.2008-3C>T2318FLNCUncertain significance-1RCV002776237; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481505128481505NC_000007.13:g.128481505C>T-
NM_001458.5(FLNC):c.2008G>A (p.Val670Met)2318FLNCUncertain significance-1RCV003093328; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481508128481508NC_000007.13:g.128481508G>A-
NM_001458.5(FLNC):c.2022G>A (p.Gly674=)2318FLNCLikely benign1359520022RCV001461850; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128481522128481522128481522-
NM_001458.5(FLNC):c.2023C>T (p.Pro675Ser)2318FLNCConflicting interpretations of pathogenicity1227192105RCV000696041|RCV002422529|RCV002493204; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MONDO:MONDO:0014883,MedGen:C4317128481523128481523NC_000007.13:g.128481523C>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2029C>G (p.Leu677Val)2318FLNCConflicting interpretations of pathogenicity754331955RCV001773058|RCV002540560; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481529128481529128481529-
NM_001458.5(FLNC):c.2029C>T (p.Leu677=)2318FLNCLikely benign754331955RCV002092024; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128481529128481529128481529-
NM_001458.5(FLNC):c.2033A>G (p.Glu678Gly)2318FLNCUncertain significance1232073461RCV001045881; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284815331284815337:g.128481533A>G-
NM_001458.5(FLNC):c.2035C>T (p.Pro679Ser)2318FLNCUncertain significance1808331792RCV001315710; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128481535128481535128481535-
NM_001458.5(FLNC):c.2036C>T (p.Pro679Leu)2318FLNCUncertain significance975517733RCV000649146|RCV001535634|RCV003144442; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:61406571284815361284815367:g.128481536C>TClinGen:CA166217424C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2040C>T (p.Thr680=)2318FLNCConflicting interpretations of pathogenicity368121231RCV000174510|RCV001082930|RCV002415742; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284815401284815407:g.128481540C>TClinGen:CA240057CN169374 not specified;
NM_001458.5(FLNC):c.2041G>A (p.Gly681Ser)2318FLNCLikely benign199705417RCV001067264|RCV001724226; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C366190071284815411284815417:g.128481541G>A-
NM_001458.5(FLNC):c.2046C>T (p.Cys682=)2318FLNCBenign-1RCV002894104; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481546128481546-
NM_001458.5(FLNC):c.2048_2049del (p.Ile683fs)2318FLNCPathogenic2128935347RCV002002467; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128481548128481549128481547-
NM_001458.5(FLNC):c.2050G>A (p.Val684Met)2318FLNCConflicting interpretations of pathogenicity769221710RCV001246140|RCV001751496; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN51720271284815501284815507:g.128481550G>A-
NM_001458.5(FLNC):c.2050G>C (p.Val684Leu)2318FLNCUncertain significance769221710RCV001959413|RCV002423157; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128481550128481550128481550-
NM_001458.5(FLNC):c.2052G>A (p.Val684=)2318FLNCUncertain significance1554398437RCV000539208; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128481552128481552NC_000007.13:g.128481552G>AClinGen:CA457583488C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2059C>T (p.Pro687Ser)2318FLNCUncertain significance-1RCV002659150; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481559128481559NC_000007.13:g.128481559C>T-
NM_001458.5(FLNC):c.2061C>T (p.Pro687=)2318FLNCLikely benign545269561RCV000904458|RCV003169261|RCV001412620; NMedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284815611284815617:g.128481561C>T-
NM_001458.5(FLNC):c.2061C>A (p.Pro687=)2318FLNCLikely benign545269561RCV001470390; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128481561128481561128481561-
NM_001458.5(FLNC):c.2062G>T (p.Ala688Ser)2318FLNCUncertain significance774194364RCV000690480|RCV003163147; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284815621284815627:g.128481562G>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2062G>A (p.Ala688Thr)2318FLNCConflicting interpretations of pathogenicity774194364RCV001369204|RCV002476683; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:6140657128481562128481562128481562-
NM_001458.5(FLNC):c.2062G>C (p.Ala688Pro)2318FLNCUncertain significance774194364RCV001960250; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481562128481562128481562-
NM_001458.5(FLNC):c.2063C>T (p.Ala688Val)2318FLNCUncertain significance772223832RCV000820015; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284815631284815637:g.128481563C>T-
NM_001458.5(FLNC):c.2064T>G (p.Ala688=)2318FLNCLikely benign773444538RCV000615652|RCV001419376|RCV002420613; NMedGen:CN169374|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284815641284815647:g.128481564T>GClinGen:CA4474581CN169374 not specified;
NM_001458.5(FLNC):c.2065G>T (p.Glu689Ter)2318FLNCPathogenic1446694237RCV000649183; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284815651284815657:g.128481565G>TClinGen:CA369227917C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2065G>A (p.Glu689Lys)2318FLNCUncertain significance1446694237RCV001698750|RCV001866263|RCV002496019; NMedGen:C3661900|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0014883,MedGen:C4317128481565128481565128481565-
NM_001458.5(FLNC):c.2068T>C (p.Phe690Leu)2318FLNCConflicting interpretations of pathogenicity200943714RCV000649153|RCV001171871|RCV002422377; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN517202|MedGen:CN2307367128481568128481568NC_000007.13:g.128481568T>CClinGen:CA4474582C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2072C>T (p.Thr691Ile)2318FLNCUncertain significance2128935358RCV001362165; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128481572128481572128481572-
NM_001458.5(FLNC):c.2073C>T (p.Thr691=)2318FLNCLikely benign2128935360RCV002125747; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128481573128481573128481573-
NM_001458.5(FLNC):c.2075T>C (p.Ile692Thr)2318FLNCConflicting interpretations of pathogenicity538863259RCV000707286|RCV002422615|RCV003144571; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|MedGen:CN5172027128481575128481575NC_000007.13:g.128481575T>C-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2078A>C (p.Asp693Ala)2318FLNCBenign/Likely benign34972246RCV000247873|RCV000556197|RCV001701813|RCV002418080; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C3661900|MedGen:CN2307367128481578128481578NC_000007.13:g.128481578A>CClinGen:CA4474584C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2081C>T (p.Ala694Val)2318FLNCConflicting interpretations of pathogenicity1315847764RCV001371251|RCV003448400; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:6170477128481581128481581128481581-
NM_001458.5(FLNC):c.2083C>T (p.Arg695Cys)2318FLNCUncertain significance-1RCV002966947; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481583128481583NC_000007.13:g.128481583C>T-
NM_001458.5(FLNC):c.2084G>T (p.Arg695Leu)2318FLNCUncertain significance766592492RCV000694616|RCV002422519; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128481584128481584NC_000007.13:g.128481584G>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2084G>C (p.Arg695Pro)2318FLNCConflicting interpretations of pathogenicity766592492RCV001067768|RCV002418551|RCV003433011; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MedGen:C366190071284815841284815847:g.128481584G>C-
NM_001458.5(FLNC):c.2084G>A (p.Arg695His)2318FLNCLikely benign766592492RCV001223259; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284815841284815847:g.128481584G>A-
NM_001458.5(FLNC):c.2084del (p.Arg695fs)2318FLNCPathogenic1808334682RCV001238630|RCV001586078; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN51720271284815841284815847:g.128481584_128481584del-
NM_001458.5(FLNC):c.2090C>T (p.Ala697Val)2318FLNCUncertain significance-1RCV003024470; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481590128481590NC_000007.13:g.128481590C>T-
NM_001458.5(FLNC):c.2092G>A (p.Gly698Ser)2318FLNCUncertain significance1461903090RCV001218020|RCV002287483|RCV003145404|RCV003294050; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|Human Phenotype Ontology:HP:0001638,MONDO:MONDO71284815921284815927:g.128481592G>A-
NM_001458.5(FLNC):c.2093G>A (p.Gly698Asp)2318FLNCUncertain significance1562994518RCV000687346; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284815931284815937:g.128481593G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2094C>T (p.Gly698=)2318FLNCUncertain significance1585156683RCV001883940; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128481594128481594128481594-
NM_001458.5(FLNC):c.2107_2119delinsT (p.Lys703_Gln707delinsTer)2318FLNCUncertain significance1585156701RCV000807600; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284816071284816197:g.128481608_128481619del-
NM_001458.5(FLNC):c.2108A>G (p.Lys703Arg)2318FLNCUncertain significance753914864RCV002015602|RCV002423225; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128481608128481608128481608-
NM_001458.5(FLNC):c.2112C>G (p.Leu704=)2318FLNCLikely benign758859689RCV000922806|RCV001452929|RCV002420598; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN23073671284816121284816127:g.128481612C>GClinGen:CA4474588CN169374 not specified;
NM_001458.5(FLNC):c.2114A>C (p.Tyr705Ser)2318FLNCUncertain significance368473600RCV001301112; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128481614128481614128481614-
NM_001458.5(FLNC):c.2119C>T (p.Gln707Ter)2318FLNCPathogenic1808336992RCV001052901|RCV003318659; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN51720271284816191284816197:g.128481619C>T-
NM_001458.5(FLNC):c.2121+4G>A2318FLNCConflicting interpretations of pathogenicity372098008RCV000703917|RCV001575020; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN51720271284816251284816257:g.128481625G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2121+5G>A2318FLNCUncertain significance376348610RCV001984733; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128481626128481626128481626-
NM_001458.5(FLNC):c.2121+9T>C2318FLNCLikely benign2128935382RCV001497355; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128481630128481630128481630-
NM_001458.5(FLNC):c.2121+10T>C2318FLNCLikely benign527417498RCV001425270; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN23931071284816311284816317:g.128481631T>C-
NM_001458.5(FLNC):c.2122-19G>A2318FLNCLikely benign-1RCV002599389; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482266128482266NC_000007.13:g.128482266G>A-
NM_001458.5(FLNC):c.2122-17T>C2318FLNCBenign144828462RCV000252647|RCV002058050; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128482268128482268NC_000007.13:g.128482268T>CClinGen:CA4474604CN169374 not specified;
NC_000007.14:g.(?_128842221)_(128850084_?)del2318FLNCUncertain significance-1RCV001031966; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482275128490138-1-
NM_001458.5(FLNC):c.2122-9T>C2318FLNCLikely benign369054931RCV002076817; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128482276128482276128482276-
NM_001458.5(FLNC):c.2122-6C>G2318FLNCUncertain significance1808361488RCV001034780; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284822791284822797:g.128482279C>G-
NM_001458.5(FLNC):c.2124C>T (p.Asp708=)2318FLNCLikely benign187481700RCV000649212|RCV001088446|RCV002420631; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN23073671284822871284822877:g.128482287C>TClinGen:CA4474606C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2124C>A (p.Asp708Glu)2318FLNCUncertain significance187481700RCV001303896; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128482287128482287128482287-
NM_001458.5(FLNC):c.2125G>A (p.Ala709Thr)2318FLNCBenign/Likely benign192725607RCV000246779|RCV000532267|RCV001702388|RCV002418081; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C3661900|MedGen:CN2307367128482288128482288NC_000007.13:g.128482288G>AClinGen:CA4474608C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2125G>T (p.Ala709Ser)2318FLNCUncertain significance-1RCV002591668; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128482288128482288NC_000007.13:g.128482288G>T-
NM_001458.5(FLNC):c.2127C>T (p.Ala709=)2318FLNCLikely benign753225379RCV001465443|RCV002421056; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128482290128482290128482290-
NM_001458.5(FLNC):c.2128G>A (p.Asp710Asn)2318FLNCConflicting interpretations of pathogenicity370035829RCV000556556|RCV002420499|RCV003144349; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|MedGen:CN51720271284822911284822917:g.128482291G>AClinGen:CA4474611C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2130C>T (p.Asp710=)2318FLNCConflicting interpretations of pathogenicity778781499RCV000726273|RCV001078588|RCV002418128; NMedGen:C3661900|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284822931284822937:g.128482293C>TClinGen:CA4474612CN169374 not specified;
NM_001458.5(FLNC):c.2130C>A (p.Asp710Glu)2318FLNCUncertain significance778781499RCV000692570; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284822931284822937:g.128482293C>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2139C>G (p.Pro713=)2318FLNCLikely benign746825094RCV001422426|RCV002432171; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128482302128482302128482302-
NM_001458.5(FLNC):c.2141T>C (p.Ile714Thr)2318FLNCUncertain significance1554398541RCV000649180; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284823041284823047:g.128482304T>CClinGen:CA369228648C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2142C>T (p.Ile714=)2318FLNCLikely benign199595235RCV000544163|RCV001550238|RCV002431677; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN2307367128482305128482305NC_000007.13:g.128482305C>TClinGen:CA4474618C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2142C>A (p.Ile714=)2318FLNCLikely benign199595235RCV000692976|RCV002424636|RCV003150334; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|Human Phenotype Ontology:HP:00071284823051284823057:g.128482305C>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2142C>G (p.Ile714Met)2318FLNCUncertain significance199595235RCV001937628; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128482305128482305128482305-
NM_001458.5(FLNC):c.2145C>T (p.Asp715=)2318FLNCLikely benign1585157201RCV001448402; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN23931071284823081284823087:g.128482308C>T-
NM_001458.5(FLNC):c.2146A>G (p.Ile716Val)2318FLNCUncertain significance1808363671RCV002036328; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128482309128482309128482309-
NM_001458.5(FLNC):c.2148C>T (p.Ile716=)2318FLNCBenign-1RCV003024707; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482311128482311-
NM_001458.5(FLNC):c.2150A>T (p.Lys717Met)2318FLNCUncertain significance-1RCV003018439; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482313128482313NC_000007.13:g.128482313A>T-
NM_001458.5(FLNC):c.2155A>T (p.Ile719Phe)2318FLNCUncertain significance1808363999RCV001303924; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128482318128482318128482318-
NM_001458.5(FLNC):c.2160del (p.Asn721fs)2318FLNCPathogenic-1RCV003055373; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482320128482320NC_000007.13:g.128482323del-
NM_001458.5(FLNC):c.2160C>T (p.Pro720=)2318FLNCLikely benign1389842402RCV000649261; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284823231284823237:g.128482323C>TClinGen:CA457583714C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2163C>A (p.Asn721Lys)2318FLNCConflicting interpretations of pathogenicity370539335RCV000707251|RCV001731901|RCV002424724; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN517202|MedGen:CN23073671284823261284823267:g.128482326C>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2163C>T (p.Asn721=)2318FLNCLikely benign370539335RCV000955064|RCV002427390; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN23073671284823261284823267:g.128482326C>T-
NM_001458.5(FLNC):c.2164G>A (p.Gly722Ser)2318FLNCUncertain significance762248114RCV000794164|RCV002424804|RCV003144593; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN230736|MedGen:CN51720271284823271284823277:g.128482327G>A-
NM_001458.5(FLNC):c.2166C>T (p.Gly722=)2318FLNCLikely benign1808364808RCV001060298; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284823291284823297:g.128482329C>T-
NM_001458.5(FLNC):c.2167G>A (p.Asp723Asn)2318FLNCConflicting interpretations of pathogenicity375414341RCV001227415|RCV002429966|RCV003145428; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN230736|MedGen:C366190071284823301284823307:g.128482330G>A-
NM_001458.5(FLNC):c.2168A>T (p.Asp723Val)2318FLNCUncertain significance1808365040RCV001322863; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128482331128482331128482331-
NM_001458.5(FLNC):c.2169C>T (p.Asp723=)2318FLNCLikely benign377553322RCV000649231|RCV002424508; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128482332128482332NC_000007.13:g.128482332C>TClinGen:CA4474628C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2170G>A (p.Gly724Ser)2318FLNCUncertain significance764774528RCV001916345|RCV002425237; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128482333128482333128482333-
NM_001458.5(FLNC):c.2171G>A (p.Gly724Asp)2318FLNCUncertain significance1554398553RCV000545563; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284823341284823347:g.128482334G>AClinGen:CA369228902C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2171G>T (p.Gly724Val)2318FLNCUncertain significance-1RCV002736004; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482334128482334NC_000007.13:g.128482334G>T-
NM_001458.5(FLNC):c.2175C>G (p.Thr725=)2318FLNCLikely benign957405389RCV001504184; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128482338128482338128482338-
NM_001458.5(FLNC):c.2179C>T (p.Arg727Cys)2318FLNCUncertain significance752627571RCV001297838; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128482342128482342128482342-
NM_001458.5(FLNC):c.2180G>A (p.Arg727His)2318FLNCBenign/Likely benign200618242RCV000557981|RCV001701044|RCV001725189|RCV002431678; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN169374|MedGen:C3661900|MedGen:CN2307367128482343128482343NC_000007.13:g.128482343G>AClinGen:CA4474631C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2188_2205del (p.Tyr730_Pro735del)2318FLNCUncertain significance2128935556RCV002025805; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128482349128482366128482348-
NM_001458.5(FLNC):c.2189A>G (p.Tyr730Cys)2318FLNCUncertain significance-1RCV002425527|RCV003101117; NMedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128482352128482352128482352-
NM_001458.5(FLNC):c.2190C>T (p.Tyr730=)2318FLNCLikely benign746733934RCV002188360|RCV002416518; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128482353128482353128482353-
NM_001458.5(FLNC):c.2191G>A (p.Val731Met)2318FLNCConflicting interpretations of pathogenicity757110783RCV001237732|RCV002430016; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284823541284823547:g.128482354G>A-
NM_001458.5(FLNC):c.2194C>T (p.Pro732Ser)2318FLNCUncertain significance1562994905RCV000695853; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284823571284823577:g.128482357C>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2199C>G (p.Thr733=)2318FLNCBenign/Likely benign200655185RCV000534013|RCV001697312|RCV002431679; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN23073671284823621284823627:g.128482362C>GClinGen:CA4474635C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2199C>T (p.Thr733=)2318FLNCLikely benign200655185RCV002104158; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128482362128482362128482362-
NM_001458.5(FLNC):c.2201A>G (p.Lys734Arg)2318FLNCUncertain significance1585157281RCV000794527; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN23931071284823641284823647:g.128482364A>G-
NM_001458.5(FLNC):c.2202G>C (p.Lys734Asn)2318FLNCUncertain significance769984017RCV001242274|RCV001556125|RCV002430028; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN517202|MedGen:CN23073671284823651284823657:g.128482365G>C-
NM_001458.5(FLNC):c.2202G>A (p.Lys734=)2318FLNCLikely benign769984017RCV001441892|RCV002432229; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128482365128482365128482365-
NM_001458.5(FLNC):c.2206A>G (p.Ile736Val)2318FLNCUncertain significance2128935565RCV001921900; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128482369128482369128482369-
NM_001458.5(FLNC):c.2212C>G (p.His738Asp)2318FLNCUncertain significance1236577531RCV001206886; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284823751284823757:g.128482375C>G-
NM_001458.5(FLNC):c.2212C>A (p.His738Asn)2318FLNCUncertain significance-1RCV003333572|RCV003333570|RCV003333571; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128482375128482375-
NM_001458.5(FLNC):c.2216C>T (p.Thr739Ile)2318FLNCConflicting interpretations of pathogenicity749380628RCV001233431|RCV002429998; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284823791284823797:g.128482379C>T-
NM_001458.5(FLNC):c.2217C>T (p.Thr739=)2318FLNCLikely benign1169471172RCV000932927; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN23931071284823801284823807:g.128482380C>T-
NM_001458.5(FLNC):c.2219T>C (p.Ile740Thr)2318FLNCUncertain significance2128935573RCV001968633; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128482382128482382128482382-
NM_001458.5(FLNC):c.2224A>G (p.Ile742Val)2318FLNCUncertain significance769224072RCV001242087; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284823871284823877:g.128482387A>G-
NM_001458.5(FLNC):c.2228_2230del (p.Ser743del)2318FLNCUncertain significance2128935577RCV001985855; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128482389128482391128482388-
NM_001458.5(FLNC):c.2227T>C (p.Ser743Pro)2318FLNCUncertain significance-1RCV002625284|RCV003162076; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128482390128482390NC_000007.13:g.128482390T>C-
NM_001458.5(FLNC):c.2234del (p.Gly745fs)2318FLNCPathogenic1374893890RCV001215001|RCV003151838; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN51720271284823941284823947:g.128482394_128482394del-
NM_001458.5(FLNC):c.2238C>T (p.Gly746=)2318FLNCLikely benign759243298RCV000875609|RCV002427209; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284824011284824017:g.128482401C>T-
NM_001458.5(FLNC):c.2239G>A (p.Val747Ile)2318FLNCConflicting interpretations of pathogenicity764876916RCV001237669|RCV002430014|RCV003227014; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|MedGen:CN51720271284824021284824027:g.128482402G>A-
NM_001458.5(FLNC):c.2244C>T (p.Asn748=)2318FLNCLikely benign752145129RCV001409998|RCV002416208; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN23073671284824071284824077:g.128482407C>T-
NM_001458.5(FLNC):c.2245G>A (p.Val749Met)2318FLNCConflicting interpretations of pathogenicity763901270RCV000807277|RCV002424880; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284824081284824087:g.128482408G>A-
NM_001458.5(FLNC):c.2245G>C (p.Val749Leu)2318FLNCUncertain significance763901270RCV001898833; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128482408128482408128482408-
NM_001458.5(FLNC):c.2246T>A (p.Val749Glu)2318FLNCUncertain significance932445396RCV000814812; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284824091284824097:g.128482409T>A-
NM_001458.5(FLNC):c.2248C>G (p.Pro750Ala)2318FLNCUncertain significance1808369718RCV001341285; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128482411128482411128482411-
NM_001458.5(FLNC):c.2254A>G (p.Ser752Gly)2318FLNCUncertain significance-1RCV002842784; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482417128482417NC_000007.13:g.128482417A>G-
NM_001458.5(FLNC):c.2255G>A (p.Ser752Asn)2318FLNCUncertain significance-1RCV002304288; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128482418128482418128482418-
NM_001458.5(FLNC):c.2259C>T (p.Pro753=)2318FLNCLikely benign1585157340RCV001464964; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN23931071284824221284824227:g.128482422C>T-
NM_001458.5(FLNC):c.2263C>T (p.Arg755Trp)2318FLNCUncertain significance990718751RCV001373768|RCV002447494|RCV003447594; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|EFO:EFO_0000407,Human Phenotype7128482426128482426128482426-
NM_001458.5(FLNC):c.2264G>A (p.Arg755Gln)2318FLNCUncertain significance781101985RCV001351954|RCV002260702|RCV003298553; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN517202|MedGen:CN2307367128482427128482427128482427-
NM_001458.5(FLNC):c.2265+1G>A2318FLNCLikely pathogenic1585157354RCV000796331; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN23931071284824291284824297:g.128482429G>A-
NM_001458.5(FLNC):c.2265+5G>A2318FLNCUncertain significance1049500135RCV001314276|RCV002447330; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128482433128482433128482433-
NM_001458.5(FLNC):c.2265+7C>T2318FLNCLikely benign1477196021RCV002219639; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482435128482435128482435-
NM_001458.5(FLNC):c.2265+8C>T2318FLNCLikely benign1808370968RCV001472443; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128482436128482436128482436-
NM_001458.5(FLNC):c.2265+9T>C2318FLNCBenign532692123RCV000930132; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284824371284824377:g.128482437T>C-
NM_001458.5(FLNC):c.2265+10C>A2318FLNCLikely benign-1RCV002607767; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482438128482438NC_000007.13:g.128482438C>A-
NM_001458.5(FLNC):c.2265+12C>G2318FLNCBenign2291566RCV000217056|RCV002054373; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284824401284824407:g.128482440C>GClinGen:CA4474655CN169374 not specified;
NM_001458.5(FLNC):c.2265+12C>T2318FLNCLikely benign2291566RCV002173049; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128482440128482440128482440-
NM_001458.5(FLNC):c.2265+13G>A2318FLNCLikely benign-1RCV002985380; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482441128482441NC_000007.13:g.128482441G>A-
NM_001458.5(FLNC):c.2265+18_2265+20del2318FLNCLikely benign-1RCV002880728; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482446128482448NC_000007.13:g.128482446_128482448del-
NM_001458.5(FLNC):c.2265+18G>A2318FLNCLikely benign-1RCV002922446; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482446128482446NC_000007.13:g.128482446G>A-
NM_001458.5(FLNC):c.2266-14G>C2318FLNCBenign75612085RCV000243348|RCV001705354|RCV002058051; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128482615128482615NC_000007.13:g.128482615G>CClinGen:CA4474671CN169374 not specified;
NM_001458.5(FLNC):c.2266-12C>T2318FLNCLikely benign761615639RCV002116955; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128482617128482617128482617-
NM_001458.5(FLNC):c.2266-11C>T2318FLNCLikely benign1201885833RCV002180588; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128482618128482618128482618-
NM_001458.5(FLNC):c.2266-5C>T2318FLNCLikely benign371960827RCV000916785|RCV001597234|RCV002445016; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN517202|MedGen:CN23073671284826241284826247:g.128482624C>T-
NM_001458.5(FLNC):c.2266-4G>A2318FLNCLikely benign371719048RCV001495265|RCV002449309; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128482625128482625128482625-
NM_001458.5(FLNC):c.2266-3C>T2318FLNCBenign/Likely benign369153392RCV000551023|RCV001722505|RCV002448760; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN2307367128482626128482626NC_000007.13:g.128482626C>TClinGen:CA4474675C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2271C>T (p.Asn757=)2318FLNCBenign-1RCV003078996; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482634128482634-
NM_001458.5(FLNC):c.2272G>A (p.Val758Met)2318FLNCUncertain significance371418145RCV000998911|RCV001049542|RCV002445155; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN23073671284826351284826357:g.128482635G>A-
NM_001458.5(FLNC):c.2277C>T (p.Gly759=)2318FLNCBenign534989876RCV000558317; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284826401284826407:g.128482640C>TClinGen:CA166175021C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2278G>A (p.Glu760Lys)2318FLNCConflicting interpretations of pathogenicity772574007RCV000649182|RCV002470941|RCV003144444; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:61704771284826411284826417:g.128482641G>AClinGen:CA4474678C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2281G>A (p.Gly761Ser)2318FLNCUncertain significance374691339RCV000818898|RCV003145198; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN51720271284826441284826447:g.128482644G>A-
NM_001458.5(FLNC):c.2286C>G (p.Ser762Arg)2318FLNCUncertain significance1160582987RCV001971109; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128482649128482649128482649-
NM_001458.5(FLNC):c.2287C>T (p.His763Tyr)2318FLNCUncertain significance1380984220RCV000806965|RCV003362959; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MeSH:D030342,MedGen:C095012371284826501284826507:g.128482650C>T-
NM_001458.5(FLNC):c.2292C>T (p.Pro764=)2318FLNCLikely benign369916201RCV000248097|RCV000649252|RCV001702389|RCV002446485; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN517202|MedGen:CN23073671284826551284826557:g.128482655C>TClinGen:CA4474680C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2293G>A (p.Glu765Lys)2318FLNCUncertain significance373798394RCV000488406|RCV000800991|RCV002455942; NMedGen:C3661900|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284826561284826567:g.128482656G>AClinGen:CA4474681CN517202 not provided;
NM_001458.5(FLNC):c.2296C>T (p.Arg766Trp)2318FLNCConflicting interpretations of pathogenicity200215340RCV000534354|RCV002497174|RCV001564850|RCV002448761; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:61406571284826591284826597:g.128482659C>TClinGen:CA4474682C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2297G>A (p.Arg766Gln)2318FLNCConflicting interpretations of pathogenicity369935650RCV000551390|RCV003144350|RCV002491078|RCV002456210|RCV002272283; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|MONDO:MONDO:0013550,MedGen:C32771284826601284826607:g.128482660G>AClinGen:CA4474683C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2299del (p.Arg766_Val767insTer)2318FLNCPathogenic2128935670RCV001875665; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128482660128482660128482659-
NM_001458.5(FLNC):c.2305G>T (p.Val769Leu)2318FLNCConflicting interpretations of pathogenicity1046022647RCV000649099|RCV003144436|RCV003303060; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN2307367128482668128482668NC_000007.13:g.128482668G>TClinGen:CA166175076C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2307G>A (p.Val769=)2318FLNCLikely benign906089015RCV000929354|RCV002445048|RCV002489235; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|MONDO:MONDO:0012289,MedGen:C18371284826701284826707:g.128482670G>A-
NM_001458.5(FLNC):c.2310C>T (p.Tyr770=)2318FLNCLikely benign374087953RCV000649208|RCV002424507; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284826731284826737:g.128482673C>TClinGen:CA4474684C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2311G>A (p.Gly771Ser)2318FLNCConflicting interpretations of pathogenicity1031265089RCV001315777|RCV002499610|RCV003145558; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:6095247128482674128482674128482674-
NM_001458.5(FLNC):c.2316C>T (p.Pro772=)2318FLNCLikely benign377595203RCV001450254|RCV002427448; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN23073671284826791284826797:g.128482679C>T-
NM_001458.5(FLNC):c.2316C>G (p.Pro772=)2318FLNCLikely benign377595203RCV001500687; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482679128482679128482679-
NM_001458.5(FLNC):c.2317G>A (p.Gly773Arg)2318FLNCUncertain significance1322212555RCV000795466|RCV002442633; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN23073671284826801284826807:g.128482680G>A-
NM_001458.5(FLNC):c.2321T>C (p.Val774Ala)2318FLNCUncertain significance1808383222RCV001320013; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128482684128482684128482684-
NM_001458.5(FLNC):c.2322G>A (p.Val774=)2318FLNCLikely benign2128935682RCV001395185; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128482685128482685128482685-
NM_001458.5(FLNC):c.2329A>G (p.Thr777Ala)2318FLNCLikely benign1220603614RCV001302826; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128482692128482692128482692-
NM_001458.5(FLNC):c.2331A>G (p.Thr777=)2318FLNCLikely benign1585157630RCV001436417; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284826941284826947:g.128482694A>G-
NM_001458.5(FLNC):c.2335C>T (p.Leu779Phe)2318FLNCUncertain significance2128935691RCV002049024; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128482698128482698128482698-
NM_001458.5(FLNC):c.2344A>G (p.Asn782Asp)2318FLNCUncertain significance1055062421RCV001969206; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482707128482707128482707-
NM_001458.5(FLNC):c.2345A>G (p.Asn782Ser)2318FLNCUncertain significance767436158RCV001971696|RCV003170315; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128482708128482708128482708-
NM_001458.5(FLNC):c.2351C>G (p.Pro784Arg)2318FLNCUncertain significance2128935692RCV001898730; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482714128482714128482714-
NM_001458.5(FLNC):c.2353A>G (p.Thr785Ala)2318FLNCUncertain significance1808384296RCV001241968; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284827161284827167:g.128482716A>G-
NM_001458.5(FLNC):c.2359T>C (p.Phe787Leu)2318FLNCUncertain significance-1RCV002632093; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482722128482722NC_000007.13:g.128482722T>C-
NM_001458.5(FLNC):c.2360T>C (p.Phe787Ser)2318FLNCUncertain significance760513917RCV001985318; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128482723128482723128482723-
NM_001458.5(FLNC):c.2361C>G (p.Phe787Leu)2318FLNCUncertain significance1471063024RCV001225706|RCV002447131; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284827241284827247:g.128482724C>G-
NM_001458.5(FLNC):c.2363C>G (p.Thr788Arg)2318FLNCUncertain significance1010774264RCV001321051; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128482726128482726128482726-
NM_001458.5(FLNC):c.2363C>T (p.Thr788Met)2318FLNCUncertain significance1010774264RCV001313475; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128482726128482726128482726-
NM_001458.5(FLNC):c.2364G>A (p.Thr788=)2318FLNCLikely benign1020284790RCV000527364|RCV002448762; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284827271284827277:g.128482727G>AClinGen:CA166175183C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2364G>C (p.Thr788=)2318FLNCLikely benign-1RCV003066614; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482727128482727-
NM_001458.5(FLNC):c.2375G>T (p.Ser792Ile)2318FLNCUncertain significance1227658348RCV001058110; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284827381284827387:g.128482738G>T-
NM_001458.5(FLNC):c.2376C>T (p.Ser792=)2318FLNCConflicting interpretations of pathogenicity754097557RCV000649092|RCV002485457; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:61704771284827391284827397:g.128482739C>TClinGen:CA4474691C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2377G>A (p.Glu793Lys)2318FLNCLikely benign187143486RCV000649058; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284827401284827407:g.128482740G>AClinGen:CA4474692C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2380G>A (p.Ala794Thr)2318FLNCUncertain significance1198975298RCV000706336; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128482743128482743NC_000007.13:g.128482743G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2382G>A (p.Ala794=)2318FLNCBenign/Likely benign536456072RCV000711678|RCV001087260|RCV002456211; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284827451284827457:g.128482745G>AClinGen:CA4474693C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2382G>C (p.Ala794=)2318FLNCLikely benign536456072RCV001490252; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128482745128482745128482745-
NM_001458.5(FLNC):c.2385del (p.Gln796fs)2318FLNCPathogenic-1RCV003036479; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482745128482745NC_000007.13:g.128482748del-
NM_001458.5(FLNC):c.2383G>A (p.Gly795Arg)2318FLNCUncertain significance1196887010RCV001936309; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128482746128482746128482746-
NM_001458.5(FLNC):c.2385G>T (p.Gly795=)2318FLNCLikely benign758439866RCV002217014|RCV003161421; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128482748128482748128482748-
NM_001458.5(FLNC):c.2389+1G>T2318FLNCPathogenic-1RCV003063934; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482753128482753NC_000007.13:g.128482753G>T-
NM_001458.5(FLNC):c.2389+2T>C2318FLNCPathogenic112903432RCV000689984; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284827541284827547:g.128482754T>C-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2389+4C>T2318FLNCConflicting interpretations of pathogenicity1057523921RCV000436366|RCV001054428|RCV003168695; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284827561284827567:g.128482756C>TClinGen:CA16605041CN169374 not specified;
NM_001458.5(FLNC):c.2389+5G>A2318FLNCUncertain significance901857994RCV001243202; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284827571284827577:g.128482757G>A-
NM_001458.5(FLNC):c.2389+12C>T2318FLNCBenign/Likely benign370526829RCV000252050|RCV000840693|RCV002058052; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128482764128482764NC_000007.13:g.128482764C>TClinGen:CA4474697CN169374 not specified;
NM_001458.5(FLNC):c.2389+13G>A2318FLNCLikely benign757608760RCV002140444; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128482765128482765128482765-
NM_001458.5(FLNC):c.2389+14G>T2318FLNCUncertain significance2128935710RCV001957961; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128482766128482766128482766-
NM_001458.5(FLNC):c.2389+17G>A2318FLNCLikely benign-1RCV003092271; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482769128482769NC_000007.13:g.128482769G>A-
NM_001458.5(FLNC):c.2389+18G>A2318FLNCUncertain significance-1RCV003091170; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482770128482770NC_000007.13:g.128482770G>A-
NM_001458.5(FLNC):c.2389+19G>T2318FLNCUncertain significance1359230020RCV001874178; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128482771128482771128482771-
NM_001458.5(FLNC):c.2390-18G>C2318FLNCLikely benign-1RCV002615386; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482830128482830NC_000007.13:g.128482830G>C-
NM_001458.5(FLNC):c.2390-14C>T2318FLNCBenign71581921RCV000248477|RCV001573964|RCV002058054|RCV002500883; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:00171284828341284828347:g.128482834C>TClinGen:CA4474714CN169374 not specified;
NM_001458.5(FLNC):c.2390-13C>T2318FLNCBenign78086167RCV000243934|RCV001795442|RCV002058053; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284828351284828357:g.128482835C>TClinGen:CA4474715CN169374 not specified;
NM_001458.5(FLNC):c.2390-13C>G2318FLNCLikely benign78086167RCV002155078; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128482835128482835128482835-
NM_001458.5(FLNC):c.2390-10_2406del2318FLNCPathogenic1554398674RCV000541523|RCV001591309; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN5172027128482836128482862NC_000007.13:g.128482838_128482864delClinGen:CA658657718
NM_001458.5(FLNC):c.2390-12G>A2318FLNCLikely benign374233889RCV001592329|RCV002072347; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128482836128482836128482836-
NM_001458.5(FLNC):c.2390-9T>C2318FLNCBenign/Likely benign368068407RCV000528872|RCV000606796|RCV001083797|RCV002476182; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MONDO:MONDO:00171284828391284828397:g.128482839T>CClinGen:CA4474718C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2390-8C>G2318FLNCConflicting interpretations of pathogenicity146063718RCV000407717|RCV000725996|RCV001087652|RCV003150153; NMedGen:CN169374|MedGen:C3661900|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|Human Phenotype71284828401284828407:g.128482840C>GClinGen:CA4474719C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2390-6C>T2318FLNCLikely benign1585157852RCV000826950|RCV002067429; NMedGen:CN517202|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284828421284828427:g.128482842C>T-
NM_001458.5(FLNC):c.2391C>A (p.Gly797=)2318FLNCLikely benign374768092RCV000609525|RCV002063144|RCV002456338; NMedGen:CN169374|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284828491284828497:g.128482849C>AClinGen:CA4474722CN169374 not specified;
NM_001458.5(FLNC):c.2391C>T (p.Gly797=)2318FLNCLikely benign374768092RCV000690647|RCV002458227; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284828491284828497:g.128482849C>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2392G>A (p.Asp798Asn)2318FLNCBenign/Likely benign778594252RCV000541324|RCV001707736|RCV002456212; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN23073671284828501284828507:g.128482850G>AClinGen:CA4474723C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2392G>T (p.Asp798Tyr)2318FLNCUncertain significance778594252RCV001066585; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284828501284828507:g.128482850G>T-
NM_001458.5(FLNC):c.2394C>T (p.Asp798=)2318FLNCLikely benign747802743RCV000553232|RCV003352922; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN23073671284828521284828527:g.128482852C>TClinGen:CA4474724C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2395G>A (p.Val799Met)2318FLNCUncertain significance1345929888RCV001042353; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284828531284828537:g.128482853G>A-
NM_001458.5(FLNC):c.2400C>A (p.Ser800Arg)2318FLNCUncertain significance748717566RCV001914705|RCV002458709; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128482858128482858128482858-
NM_001458.5(FLNC):c.2403C>T (p.Ile801=)2318FLNCLikely benign369234137RCV000874007|RCV002427197; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN23073671284828611284828617:g.128482861C>T-
NM_001458.5(FLNC):c.2403C>A (p.Ile801=)2318FLNCLikely benign369234137RCV002083076; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128482861128482861128482861-
NM_001458.5(FLNC):c.2404G>A (p.Gly802Ser)2318FLNCUncertain significance371398126RCV000529237|RCV002448763|RCV002476183|RCV003144351; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MONDO:MONDO:0012289,MedGen:C18371284828621284828627:g.128482862G>AClinGen:CA4474727C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2404G>C (p.Gly802Arg)2318FLNCUncertain significance-1RCV002988386; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482862128482862NC_000007.13:g.128482862G>C-
NM_001458.5(FLNC):c.2406C>T (p.Gly802=)2318FLNCLikely benign770943809RCV001319508; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128482864128482864128482864-
NM_001458.5(FLNC):c.2413T>C (p.Cys805Arg)2318FLNCUncertain significance-1RCV002742002; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482871128482871NC_000007.13:g.128482871T>C-
NM_001458.5(FLNC):c.2415C>T (p.Cys805=)2318FLNCLikely benign376800693RCV000253464|RCV000945628|RCV002450773; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284828731284828737:g.128482873C>TClinGen:CA4474729CN169374 not specified;
NM_001458.5(FLNC):c.2416G>A (p.Ala806Thr)2318FLNCUncertain significance1386986739RCV001346860|RCV003145598; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN5172027128482874128482874128482874-
NM_001458.5(FLNC):c.2416G>C (p.Ala806Pro)2318FLNCUncertain significance-1RCV002938985; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482874128482874NC_000007.13:g.128482874G>C-
NM_001458.5(FLNC):c.2417C>A (p.Ala806Asp)2318FLNCUncertain significance-1RCV003059187; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482875128482875NC_000007.13:g.128482875C>A-
NM_001458.5(FLNC):c.2419C>T (p.Pro807Ser)2318FLNCUncertain significance946201226RCV000796399|RCV001266654|RCV002442636|RCV002466586; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MeSH:D030342,MedGen:C0950123|MedGen:CN230736|Me71284828771284828777:g.128482877C>T-
NM_001458.5(FLNC):c.2421A>G (p.Pro807=)2318FLNCLikely benign1585157908RCV001494405; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284828791284828797:g.128482879A>G-
NM_001458.5(FLNC):c.2424C>T (p.Gly808=)2318FLNCConflicting interpretations of pathogenicity764991202RCV001370556|RCV002476691|RCV003298609; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:6140657128482882128482882128482882-
NM_001458.5(FLNC):c.2426TGG[1] (p.Val810del)2318FLNCUncertain significance1585157919RCV000792677; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN23931071284828831284828857:g.128482883_128482885del-
NM_001458.5(FLNC):c.2425G>A (p.Val809Met)2318FLNCUncertain significance775770671RCV001248674|RCV001700725|RCV002447232; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN517202|MedGen:CN23073671284828831284828837:g.128482883G>A-
NM_001458.5(FLNC):c.2427G>T (p.Val809=)2318FLNCLikely benign901910589RCV002094536; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128482885128482885128482885-
NM_001458.5(FLNC):c.2428G>C (p.Val810Leu)2318FLNCUncertain significance763153223RCV001319078; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128482886128482886128482886-
NM_001458.5(FLNC):c.2432del (p.Gly811fs)2318FLNCPathogenic776269505RCV001204082; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284828881284828887:g.128482888_128482888del-
NM_001458.5(FLNC):c.2433C>A (p.Gly811=)2318FLNCLikely benign-1RCV003015378; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482891128482891-
NM_001458.5(FLNC):c.2434C>T (p.Pro812Ser)2318FLNCUncertain significance1808396338RCV001308172; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128482892128482892128482892-
NM_001458.5(FLNC):c.2450T>C (p.Ile817Thr)2318FLNCConflicting interpretations of pathogenicity200653747RCV000221213|RCV000541682|RCV002500712|RCV003441792; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MONDO:MONDO:0012289,MedGen:C1837128482908128482908NC_000007.13:g.128482908T>CClinGen:CA4474736C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2454C>T (p.Asp818=)2318FLNCLikely benign2128935767RCV001415587; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128482912128482912128482912-
NM_001458.5(FLNC):c.2457C>T (p.Phe819=)2318FLNCLikely benign761900404RCV000554179|RCV002431680; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284829151284829157:g.128482915C>TClinGen:CA4474737C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2458G>A (p.Asp820Asn)2318FLNCUncertain significance965901086RCV001208600|RCV002447069; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284829161284829167:g.128482916G>A-
NM_001458.5(FLNC):c.2459A>T (p.Asp820Val)2318FLNCUncertain significance886044638RCV000403726|RCV001201727|RCV002429239; NMedGen:CN517202|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284829171284829177:g.128482917A>TClinGen:CA10607003CN169374 not specified;
NM_001458.5(FLNC):c.2460C>T (p.Asp820=)2318FLNCLikely benign-1RCV002579391; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482918128482918-
NM_001458.5(FLNC):c.2463C>A (p.Ile821=)2318FLNCLikely benign-1RCV002731362; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482921128482921-
NM_001458.5(FLNC):c.2466C>T (p.Ile822=)2318FLNCLikely benign1349110023RCV000894781|RCV002444986; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284829241284829247:g.128482924C>T-
NM_001458.5(FLNC):c.2469G>A (p.Lys823=)2318FLNCLikely benign-1RCV002599745; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482927128482927-
NM_001458.5(FLNC):c.2470A>T (p.Asn824Tyr)2318FLNCUncertain significance1562995383RCV000702724|RCV002458290; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128482928128482928NC_000007.13:g.128482928A>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2476_2478del (p.Asn826del)2318FLNCUncertain significance1188205440RCV001904740; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128482932128482934128482931-
NM_001458.5(FLNC):c.2474A>G (p.Asp825Gly)2318FLNCUncertain significance559621589RCV002041740; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128482932128482932128482932-
NM_001458.5(FLNC):c.2478C>T (p.Asn826=)2318FLNCLikely benign756475814RCV001477389|RCV002449267; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128482936128482936128482936-
NM_001458.5(FLNC):c.2485T>G (p.Phe829Val)2318FLNCUncertain significance758056957RCV001197617|RCV002480648; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284829431284829437:g.128482943T>G-
NM_001458.5(FLNC):c.2489C>T (p.Thr830Ile)2318FLNCUncertain significance1367245869RCV001368614|RCV002462965; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:C36619007128482947128482947128482947-
NM_001458.5(FLNC):c.2490C>T (p.Thr830=)2318FLNCLikely benign777580254RCV000430836|RCV000530776|RCV001702775|RCV002429409; NMedGen:CN169374|MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN517202|MedGen:CN23073671284829481284829487:g.128482948C>TClinGen:CA4474744C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2491G>A (p.Val831Ile)2318FLNCUncertain significance746478952RCV000649170|RCV001701427|RCV002424506; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN517202|MedGen:CN2307367128482949128482949NC_000007.13:g.128482949G>AClinGen:CA4474745C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2494A>C (p.Lys832Gln)2318FLNCUncertain significance2128935786RCV001874050; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128482952128482952128482952-
NM_001458.5(FLNC):c.2499C>A (p.Tyr833Ter)2318FLNCPathogenic1389742580RCV001384831|RCV002432069; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128482957128482957128482957-
NM_001458.5(FLNC):c.2500A>G (p.Thr834Ala)2318FLNCUncertain significance781169622RCV000810577|RCV002487760|RCV003307503; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:61704771284829581284829587:g.128482958A>G-
NM_001458.5(FLNC):c.2501C>T (p.Thr834Met)2318FLNCBenign/Likely benign75133741RCV000117068|RCV000543247|RCV001573114|RCV002453429; NMedGen:CN169374|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:C3661900|MedGen:CN23073671284829591284829597:g.128482959C>TClinGen:CA152841C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2502G>A (p.Thr834=)2318FLNCLikely benign984526805RCV002077385; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128482960128482960128482960-
NM_001458.5(FLNC):c.2507del (p.Pro836fs)2318FLNCPathogenic1808400111RCV001063821; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284829641284829647:g.128482964_128482964del-
NM_001458.5(FLNC):c.2506C>T (p.Pro836Ser)2318FLNCUncertain significance1422445527RCV001980790|RCV002458950; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128482964128482964128482964-
NM_001458.5(FLNC):c.2507C>A (p.Pro836Gln)2318FLNCBenign/Likely benign199652368RCV000560197|RCV001704387|RCV001821193|RCV002429416; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN169374|MedGen:CN23073671284829651284829657:g.128482965C>AClinGen:CA4474748C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2507C>T (p.Pro836Leu)2318FLNCUncertain significance199652368RCV001984505; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482965128482965128482965-
NM_001458.5(FLNC):c.2508del (p.Ala838fs)2318FLNCPathogenic1808400430RCV001231735; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284829661284829667:g.128482966_128482966del-
NM_001458.5(FLNC):c.2508A>G (p.Pro836=)2318FLNCLikely benign-1RCV002700271; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482966128482966-
NM_001458.5(FLNC):c.2512G>A (p.Ala838Thr)2318FLNCUncertain significance1808400610RCV001060307; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284829701284829707:g.128482970G>A-
NM_001458.5(FLNC):c.2513C>T (p.Ala838Val)2318FLNCConflicting interpretations of pathogenicity775085661RCV000821076|RCV002427057; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284829711284829717:g.128482971C>T-
NM_001458.5(FLNC):c.2513C>G (p.Ala838Gly)2318FLNCUncertain significance-1RCV003083079; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482971128482971NC_000007.13:g.128482971C>G-
NM_001458.5(FLNC):c.2514G>A (p.Ala838=)2318FLNCLikely benign762824697RCV002106603; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128482972128482972128482972-
NM_001458.5(FLNC):c.2516G>A (p.Gly839Asp)2318FLNCUncertain significance940353148RCV001732627|RCV001882800|RCV002425034|RCV003407781; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN230736|7128482974128482974128482974-
NM_001458.5(FLNC):c.2518C>T (p.Arg840Cys)2318FLNCUncertain significance373514748RCV001212917|RCV003145392; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN51720271284829761284829767:g.128482976C>T-
NM_001458.5(FLNC):c.2519G>A (p.Arg840His)2318FLNCConflicting interpretations of pathogenicity376472014RCV001038667|RCV002427490|RCV002481866; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MONDO:MONDO:0013550,MedGen:C32771284829771284829777:g.128482977G>A-
NM_001458.5(FLNC):c.2521T>C (p.Tyr841His)2318FLNCUncertain significance2128935808RCV001928588; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128482979128482979128482979-
NM_001458.5(FLNC):c.2526C>T (p.Thr842=)2318FLNCLikely benign750927692RCV002213733; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482984128482984128482984-
NM_001458.5(FLNC):c.2527A>T (p.Ile843Phe)2318FLNCUncertain significance973425855RCV001237701; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284829851284829857:g.128482985A>T-
NM_001458.5(FLNC):c.2538G>A (p.Leu846=)2318FLNCLikely benign766913091RCV001474317; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128482996128482996128482996-
NM_001458.5(FLNC):c.2539T>C (p.Phe847Leu)2318FLNCUncertain significance-1RCV002720940; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128482997128482997NC_000007.13:g.128482997T>C-
NM_001458.5(FLNC):c.2542G>A (p.Ala848Thr)2318FLNCUncertain significance-1RCV002766586; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483000128483000NC_000007.13:g.128483000G>A-
NM_001458.5(FLNC):c.2546A>G (p.Asn849Ser)2318FLNCUncertain significance755425307RCV000701522; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128483004128483004NC_000007.13:g.128483004A>G-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2546A>T (p.Asn849Ile)2318FLNCConflicting interpretations of pathogenicity755425307RCV001066544|RCV003145333; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN51720271284830041284830047:g.128483004A>T-
NM_001458.5(FLNC):c.2548C>T (p.Gln850Ter)2318FLNCPathogenic1367760687RCV001387665; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128483006128483006128483006-
NM_001458.5(FLNC):c.2550G>A (p.Gln850=)2318FLNCUncertain significance1585158097RCV000794602; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN23931071284830081284830087:g.128483008G>A-
NM_001458.5(FLNC):c.2550+1G>C2318FLNCLikely pathogenic-1RCV003045646; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483009128483009NC_000007.13:g.128483009G>C-
NM_001458.5(FLNC):c.2550+2T>C2318FLNCLikely pathogenic113972676RCV000794600|RCV002424809; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN23073671284830101284830107:g.128483010T>C-
NM_001458.5(FLNC):c.2550+4C>G2318FLNCUncertain significance-1RCV002731262; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483012128483012NC_000007.13:g.128483012C>G-
NM_001458.5(FLNC):c.2550+10C>T2318FLNCLikely benign2128935820RCV002097380; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128483018128483018128483018-
NM_001458.5(FLNC):c.2550+14T>A2318FLNCLikely benign-1RCV002622554; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483022128483022NC_000007.13:g.128483022T>A-
NM_001458.5(FLNC):c.2550+15_2550+18del2318FLNCLikely benign-1RCV002639128; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483022128483025NC_000007.13:g.128483023_128483026del-
NM_001458.5(FLNC):c.2550+18T>C2318FLNCLikely benign-1RCV002712099; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483026128483026NC_000007.13:g.128483026T>C-
NM_001458.5(FLNC):c.2551-17G>A2318FLNCLikely benign953166619RCV002096651; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128483266128483266128483266-
NM_001458.5(FLNC):c.2551-7C>T2318FLNCLikely benign-1RCV003025910; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483276128483276NC_000007.13:g.128483276C>T-
NM_001458.5(FLNC):c.2551-3C>T2318FLNCUncertain significance1293024920RCV001368074; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128483280128483280128483280-
NM_001458.5(FLNC):c.2553G>T (p.Glu851Asp)2318FLNCUncertain significance-1RCV002433323|RCV003101963; NMedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128483285128483285128483285-
NM_001458.5(FLNC):c.2555T>C (p.Ile852Thr)2318FLNCUncertain significance111482519RCV001930800; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128483287128483287128483287-
NM_001458.5(FLNC):c.2557C>T (p.Pro853Ser)2318FLNCConflicting interpretations of pathogenicity374302753RCV001237752|RCV002436933|RCV003223710; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|MedGen:CN51720271284832891284832897:g.128483289C>T-
NM_001458.5(FLNC):c.2559C>T (p.Pro853=)2318FLNCLikely benign977635757RCV002071826; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128483291128483291128483291-
NM_001458.5(FLNC):c.2560G>A (p.Ala854Thr)2318FLNCUncertain significance749855792RCV000699285|RCV001561260; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN51720271284832921284832927:g.128483292G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2568C>T (p.Pro856=)2318FLNCBenign/Likely benign201611050RCV000841661|RCV001086468|RCV002456213|RCV003330786; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|MedGen:CN16937471284833001284833007:g.128483300C>TClinGen:CA4474783C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2574C>T (p.His858=)2318FLNCLikely benign779819905RCV000937418|RCV002427339; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310|MedGen:CN23073671284833061284833067:g.128483306C>T-
NM_001458.5(FLNC):c.2582T>G (p.Val861Gly)2318FLNCUncertain significance749269317RCV001368470; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128483314128483314128483314-
NM_001458.5(FLNC):c.2587C>G (p.Pro863Ala)2318FLNCConflicting interpretations of pathogenicity754750752RCV000811484|RCV002424905; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284833191284833197:g.128483319C>G-
NM_001458.5(FLNC):c.2587C>T (p.Pro863Ser)2318FLNCUncertain significance754750752RCV001044045; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284833191284833197:g.128483319C>T-
NM_001458.5(FLNC):c.2595C>T (p.His865=)2318FLNCLikely benign778744785RCV001434275|RCV002432207; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128483327128483327128483327-
NM_001458.5(FLNC):c.2596G>A (p.Asp866Asn)2318FLNCConflicting interpretations of pathogenicity201006462RCV001296238|RCV002221620|RCV002437008; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN2307367128483328128483328128483328-
NM_001458.5(FLNC):c.2599G>A (p.Ala867Thr)2318FLNCUncertain significance772127988RCV001872291; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128483331128483331128483331-
NM_001458.5(FLNC):c.2600C>T (p.Ala867Val)2318FLNCUncertain significance1352861184RCV001053065; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284833321284833327:g.128483332C>T-
NM_001458.5(FLNC):c.2602A>G (p.Ser868Gly)2318FLNCUncertain significance201002262RCV000804911|RCV001731934|RCV002424868|RCV002495095; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:00171284833341284833347:g.128483334A>G-
NM_001458.5(FLNC):c.2603_2604delinsT (p.Ser868fs)2318FLNCPathogenic1808416556RCV001243367; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284833351284833367:g.128483336_128483336del-
NM_001458.5(FLNC):c.2604del (p.Ser868fs)2318FLNCPathogenic2128935921RCV001381844; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128483336128483336128483335-
NM_001458.5(FLNC):c.2604C>G (p.Ser868Arg)2318FLNCUncertain significance2128935920RCV001752279|RCV002032808; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128483336128483336128483336-
NM_001458.5(FLNC):c.2604C>T (p.Ser868=)2318FLNCLikely benign-1RCV003093650; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483336128483336-
NM_001458.5(FLNC):c.2604C>A (p.Ser868Arg)2318FLNCUncertain significance-1RCV002639158; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483336128483336NC_000007.13:g.128483336C>A-
NM_001458.5(FLNC):c.2610C>G (p.Val870=)2318FLNCLikely benign2128935926RCV002101910; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128483342128483342128483342-
NM_001458.5(FLNC):c.2616C>T (p.Ala872=)2318FLNCLikely benign769947935RCV000649244; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284833481284833487:g.128483348C>TClinGen:CA166176249C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2616C>G (p.Ala872=)2318FLNCLikely benign769947935RCV002168894; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483348128483348128483348-
NM_001458.5(FLNC):c.2617G>A (p.Glu873Lys)2318FLNCUncertain significance771092335RCV000543589|RCV002431681; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284833491284833497:g.128483349G>AClinGen:CA166176251C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2617G>T (p.Glu873Ter)2318FLNCPathogenic771092335RCV001938868; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128483349128483349128483349-
NM_001458.5(FLNC):c.2621G>A (p.Gly874Asp)2318FLNCUncertain significance2128935929RCV001888201; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128483353128483353128483353-
NM_001458.5(FLNC):c.2622C>T (p.Gly874=)2318FLNCLikely benign777267184RCV000983340; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284833541284833547:g.128483354C>T-
NM_001458.5(FLNC):c.2624C>G (p.Pro875Arg)2318FLNCUncertain significance1418979185RCV000560534; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284833561284833567:g.128483356C>GClinGen:CA369192579C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2627G>T (p.Gly876Val)2318FLNCUncertain significance534407127RCV001205132|RCV001701305; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN51720271284833591284833597:g.128483359G>T-
NM_001458.5(FLNC):c.2628G>T (p.Gly876=)2318FLNCUncertain significance2128935936RCV002041944; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483360128483360128483360-
NM_001458.5(FLNC):c.2630_2631insTCT (p.Leu877_Asn878insLeu)2318FLNCUncertain significance-1RCV003095546; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483360128483361NC_000007.13:g.128483362_128483363insTCT-
NM_001458.5(FLNC):c.2631G>C (p.Leu877=)2318FLNCLikely benign2128935938RCV002212472; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483363128483363128483363-
NM_001458.5(FLNC):c.2633A>G (p.Asn878Ser)2318FLNCUncertain significance-1RCV002618999; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483365128483365NC_000007.13:g.128483365A>G-
NM_001458.5(FLNC):c.2635C>T (p.Arg879Cys)2318FLNCConflicting interpretations of pathogenicity374983276RCV000536582|RCV001508592|RCV002438463|RCV002506359; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:00171284833671284833677:g.128483367C>TClinGen:CA4474794C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2636G>A (p.Arg879His)2318FLNCConflicting interpretations of pathogenicity367997079RCV000649130|RCV001756083; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN5172027128483368128483368NC_000007.13:g.128483368G>AClinGen:CA4474795C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2639C>T (p.Thr880Ile)2318FLNCUncertain significance1324832799RCV001325115|RCV003166905; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128483371128483371128483371-
NM_001458.5(FLNC):c.2641+5G>C2318FLNCUncertain significance2128935942RCV001929156; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128483378128483378128483378-
NM_001458.5(FLNC):c.2641+8_2641+11del2318FLNCLikely benign1808418675RCV001485370; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128483379128483382128483378-
NM_001458.5(FLNC):c.2641+7G>T2318FLNCLikely benign775941446RCV001400815; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128483380128483380128483380-
NM_001458.5(FLNC):c.2641+18G>A2318FLNCLikely benign763402287RCV002182183; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128483391128483391128483391-
NM_001458.5(FLNC):c.2642-18C>T2318FLNCLikely benign202220457RCV002106830; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128483444128483444128483444-
NM_001458.5(FLNC):c.2642-16C>T2318FLNCLikely benign747314181RCV002079960; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128483446128483446128483446-
NM_001458.5(FLNC):c.2642-8G>T2318FLNCLikely benign2128935975RCV002105961; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128483454128483454128483454-
NM_001458.5(FLNC):c.2642-3C>T2318FLNCUncertain significance1808423104RCV001247551; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284834591284834597:g.128483459C>T-
NM_001458.5(FLNC):c.2642G>T (p.Gly881Val)2318FLNCUncertain significance377095070RCV000820273; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284834621284834627:g.128483462G>T-
NM_001458.5(FLNC):c.2644G>A (p.Val882Met)2318FLNCUncertain significance-1RCV003111880; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483464128483464NC_000007.13:g.128483464G>A-
NM_001458.5(FLNC):c.2650G>T (p.Val884Phe)2318FLNCUncertain significance770379589RCV000649106; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284834701284834707:g.128483470G>TClinGen:CA4474812C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2652C>G (p.Val884=)2318FLNCLikely benign369714355RCV001469290; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284834721284834727:g.128483472C>GClinGen:CA4474814C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2652C>T (p.Val884=)2318FLNCLikely benign369714355RCV001492271|RCV002456877; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128483472128483472128483472-
NM_001458.5(FLNC):c.2653G>A (p.Gly885Arg)2318FLNCUncertain significance769110628RCV000549101|RCV002431682|RCV003144352; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN230736|MedGen:C36619007128483473128483473NC_000007.13:g.128483473G>AClinGen:CA4474815C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2655G>A (p.Gly885=)2318FLNCLikely benign1034531656RCV002185577; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128483475128483475128483475-
NM_001458.5(FLNC):c.2658G>A (p.Lys886=)2318FLNCLikely benign2128935981RCV001486539; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483478128483478128483478-
NM_001458.5(FLNC):c.2661C>T (p.Pro887=)2318FLNCLikely benign772723929RCV002204161; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483481128483481128483481-
NM_001458.5(FLNC):c.2666A>G (p.His889Arg)2318FLNCUncertain significance1808424297RCV001984679; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128483486128483486128483486-
NM_001458.5(FLNC):c.2670C>T (p.Phe890=)2318FLNCLikely benign-1RCV003007503; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483490128483490-
NM_001458.5(FLNC):c.2672C>T (p.Thr891Met)2318FLNCConflicting interpretations of pathogenicity766023596RCV001060654|RCV002429687|RCV003145319|RCV003393829; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN230736|MedGen:C3661900|71284834921284834927:g.128483492C>T-
NM_001458.5(FLNC):c.2673G>A (p.Thr891=)2318FLNCLikely benign761823234RCV000691546|RCV002440450|RCV003330902|RCV003457736; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN230736|MedGen:CN169374|MedGen:C36619007128483493128483493NC_000007.13:g.128483493G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2674G>A (p.Val892Met)2318FLNCUncertain significance200986712RCV001312661; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483494128483494128483494-
NM_001458.5(FLNC):c.2686G>A (p.Gly896Arg)2318FLNCConflicting interpretations of pathogenicity200215903RCV000497557|RCV001088702|RCV002455958; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284835061284835067:g.128483506G>AClinGen:CA4474822CN169374 not specified;
NM_001458.5(FLNC):c.2691C>T (p.Ala897=)2318FLNCLikely benign758116420RCV001446151|RCV002456752; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128483511128483511128483511-
NM_001458.5(FLNC):c.2692G>A (p.Gly898Ser)2318FLNCLikely benign777692031RCV001930564; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128483512128483512128483512-
NM_001458.5(FLNC):c.2701A>C (p.Lys901Gln)2318FLNCUncertain significance2128935990RCV001922701; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128483521128483521128483521-
NM_001458.5(FLNC):c.2703G>T (p.Lys901Asn)2318FLNCUncertain significance1554398845RCV000498262|RCV001857001|RCV003278846; NMedGen:CN517202|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284835231284835237:g.128483523G>TClinGen:CA369192959CN169374 not specified;
NM_001458.5(FLNC):c.2706G>A (p.Leu902=)2318FLNCLikely benign-1RCV002837744; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483526128483526-
NM_001458.5(FLNC):c.2707G>A (p.Asp903Asn)2318FLNCUncertain significance781591239RCV001059112; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284835271284835277:g.128483527G>A-
NM_001458.5(FLNC):c.2710G>A (p.Val904Met)2318FLNCUncertain significance1340231541RCV001365439; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128483530128483530128483530-
NM_001458.5(FLNC):c.2711T>G (p.Val904Gly)2318FLNCUncertain significance2128935993RCV002027196; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128483531128483531128483531-
NM_001458.5(FLNC):c.2714A>G (p.Gln905Arg)2318FLNCUncertain significance-1RCV002720102; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483534128483534NC_000007.13:g.128483534A>G-
NM_001458.5(FLNC):c.2717T>C (p.Phe906Ser)2318FLNCUncertain significance1212936871RCV001760945|RCV002540318; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483537128483537128483537-
NM_001458.5(FLNC):c.2724G>C (p.Gly908=)2318FLNCLikely benign1808426712RCV001495627; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128483544128483544128483544-
NM_001458.5(FLNC):c.2730C>G (p.Ala910=)2318FLNCLikely benign1585158635RCV001451663|RCV002434262; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284835501284835507:g.128483550C>G-
NM_001458.5(FLNC):c.2731A>C (p.Lys911Gln)2318FLNCUncertain significance-1RCV002820320; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483551128483551NC_000007.13:g.128483551A>C-
NM_001458.5(FLNC):c.2733G>A (p.Lys911=)2318FLNCConflicting interpretations of pathogenicity374135903RCV000733039|RCV001089435|RCV001700300|RCV002440576; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310|MedGen:CN169374|MedGen:CN2307367128483553128483553NC_000007.13:g.128483553G>A-
NM_001458.5(FLNC):c.2734G>A (p.Gly912Ser)2318FLNCUncertain significance1808427228RCV001879411; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128483554128483554128483554-
NM_001458.5(FLNC):c.2736C>T (p.Gly912=)2318FLNCConflicting interpretations of pathogenicity768894698RCV000649124|RCV002440344; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284835561284835567:g.128483556C>TClinGen:CA4474832C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2737G>A (p.Glu913Lys)2318FLNCConflicting interpretations of pathogenicity774707336RCV001351237|RCV001773705|RCV002438815|RCV002476615; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:0017128483557128483557128483557-
NM_001458.5(FLNC):c.2743_2753del (p.Val914_Val915insTer)2318FLNCPathogenic2128936006RCV001960580; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128483561128483571128483560-
NM_001458.5(FLNC):c.2746C>T (p.Arg916Trp)2318FLNCUncertain significance762095761RCV001920909|RCV002508973; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:6095247128483566128483566128483566-
NM_001458.5(FLNC):c.2747G>A (p.Arg916Gln)2318FLNCConflicting interpretations of pathogenicity143720860RCV000691700|RCV001547807|RCV002440451; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C3661900|MedGen:CN2307367128483567128483567NC_000007.13:g.128483567G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2747G>T (p.Arg916Leu)2318FLNCUncertain significance143720860RCV000802888|RCV002440687; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284835671284835677:g.128483567G>T-
NM_001458.5(FLNC):c.2754_2755insC (p.Glu919fs)2318FLNCPathogenic2128936013RCV001963141; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128483574128483575128483574-
NM_001458.5(FLNC):c.2767A>C (p.Asn923His)2318FLNCUncertain significance1420123492RCV000703512|RCV002440525|RCV003424297; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MedGen:C366190071284835871284835877:g.128483587A>C-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2769C>T (p.Asn923=)2318FLNCLikely benign2128936016RCV001405732; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128483589128483589128483589-
NM_001458.5(FLNC):c.2772T>C (p.His924=)2318FLNCLikely benign1326134089RCV001406683; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128483592128483592128483592-
NM_001458.5(FLNC):c.2774A>T (p.Asp925Val)2318FLNCConflicting interpretations of pathogenicity-1RCV002439641|RCV003102198; NMedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128483594128483594128483594-
NM_001458.5(FLNC):c.2776T>G (p.Tyr926Asp)2318FLNCUncertain significance1808429467RCV001295403; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128483596128483596128483596-
NM_001458.5(FLNC):c.2780_2782del (p.Ser927del)2318FLNCUncertain significance1808429673RCV001248258; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284835981284836007:g.128483598_128483600del-
NM_001458.5(FLNC):c.2779T>C (p.Ser927Pro)2318FLNCUncertain significance-1RCV002751435; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483599128483599NC_000007.13:g.128483599T>C-
NM_001458.5(FLNC):c.2780C>T (p.Ser927Phe)2318FLNCUncertain significance1585158690RCV000823271|RCV002434021; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284836001284836007:g.128483600C>T-
NM_001458.5(FLNC):c.2780C>A (p.Ser927Tyr)2318FLNCUncertain significance1585158690RCV001324377; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128483600128483600128483600-
NM_001458.5(FLNC):c.2782T>A (p.Tyr928Asn)2318FLNCUncertain significance1808429909RCV001055340; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284836021284836027:g.128483602T>A-
NM_001458.5(FLNC):c.2782T>C (p.Tyr928His)2318FLNCUncertain significance1808429909RCV001222684; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284836021284836027:g.128483602T>C-
NM_001458.5(FLNC):c.2790C>T (p.Val930=)2318FLNCLikely benign199966433RCV000649201|RCV001537138|RCV002440345; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN517202|MedGen:CN23073671284836101284836107:g.128483610C>TClinGen:CA4474839C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2790C>G (p.Val930=)2318FLNCLikely benign-1RCV002622238; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483610128483610-
NM_001458.5(FLNC):c.2794T>A (p.Tyr932Asn)2318FLNCUncertain significance1808430365RCV001227237|RCV003145427; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN51720271284836141284836147:g.128483614T>A-
NM_001458.5(FLNC):c.2796C>T (p.Tyr932=)2318FLNCLikely benign1371836474RCV000538095; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284836161284836167:g.128483616C>TClinGen:CA457577814C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2797A>C (p.Thr933Pro)2318FLNCUncertain significance2128936026RCV001903722; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128483617128483617128483617-
NM_001458.5(FLNC):c.2798C>G (p.Thr933Ser)2318FLNCUncertain significance-1RCV002612825; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483618128483618NC_000007.13:g.128483618C>G-
NM_001458.5(FLNC):c.2799C>T (p.Thr933=)2318FLNCLikely benign202186772RCV000874959|RCV001712648|RCV002438582; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:C3661900|MedGen:CN23073671284836191284836197:g.128483619C>TClinGen:CA4474840CN169374 not specified;
NM_001458.5(FLNC):c.2800G>A (p.Ala934Thr)2318FLNCLikely benign763954095RCV000685741; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128483620128483620NC_000007.13:g.128483620G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2807A>T (p.Gln936Leu)2318FLNCUncertain significance2128936027RCV001916939; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128483627128483627128483627-
NM_001458.5(FLNC):c.2811+1G>T2318FLNCLikely pathogenic2128936028RCV002006847; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128483632128483632128483632-
NM_001458.5(FLNC):c.2811+4C>T2318FLNCUncertain significance146715204RCV001262961|RCV001706726|RCV001880049|RCV002436983; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; 71284836351284836357:g.128483635C>T-
NM_001458.5(FLNC):c.2811+5G>A2318FLNCUncertain significance781538211RCV001751556|RCV001294391|RCV001839040|RCV002437000; NMedGen:CN517202|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MONDO:MONDO:0014883,MedGen:C4317128483636128483636128483636-
NM_001458.5(FLNC):c.2811+6C>T2318FLNCUncertain significance750718546RCV001318236; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128483637128483637128483637-
NM_001458.5(FLNC):c.2811+14C>T2318FLNCLikely benign780344743RCV002088205; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128483645128483645128483645-
NM_001458.5(FLNC):c.2811+15T>C2318FLNCLikely benign-1RCV003056196; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483646128483646NC_000007.13:g.128483646T>C-
NM_001458.5(FLNC):c.2811+20T>A2318FLNCLikely benign-1RCV002881276; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483651128483651NC_000007.13:g.128483651T>A-
NM_001458.5(FLNC):c.2812-16C>T2318FLNCLikely benign754582909RCV002194717; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128483834128483834128483834-
NM_001458.5(FLNC):c.2812-16C>A2318FLNCLikely benign754582909RCV002109842; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128483834128483834128483834-
NM_001458.5(FLNC):c.2812-15del2318FLNCLikely benign-1RCV002938553; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483834128483834NC_000007.13:g.128483835del-
NM_001458.5(FLNC):c.2812-14A>G2318FLNCLikely benign755042584RCV002126673; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128483836128483836128483836-
NM_001458.5(FLNC):c.2812-12T>G2318FLNCLikely benign-1RCV002877483; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483838128483838NC_000007.13:g.128483838T>G-
NM_001458.5(FLNC):c.2812-8C>T2318FLNCLikely benign-1RCV002618590; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483842128483842NC_000007.13:g.128483842C>T-
NM_001458.5(FLNC):c.2812-4A>T2318FLNCConflicting interpretations of pathogenicity1461105538RCV001068043|RCV002436671; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284838461284838467:g.128483846A>T-
NM_001458.5(FLNC):c.2812-4A>G2318FLNCUncertain significance-1RCV003085952; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483846128483846NC_000007.13:g.128483846A>G-
NM_001458.5(FLNC):c.2816_2823dup (p.Val942fs)2318FLNCPathogenic2128936072RCV001950674; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483849128483850128483849-
NM_001458.5(FLNC):c.2815A>G (p.Asn939Asp)2318FLNCUncertain significance-1RCV002780790; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483853128483853NC_000007.13:g.128483853A>G-
NM_001458.5(FLNC):c.2819T>A (p.Met940Lys)2318FLNCUncertain significance2128936077RCV002004560; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128483857128483857128483857-
NM_001458.5(FLNC):c.2821G>A (p.Ala941Thr)2318FLNCUncertain significance1334463747RCV001233473; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284838591284838597:g.128483859G>A-
NM_001458.5(FLNC):c.2825T>C (p.Val942Ala)2318FLNCUncertain significance1808440244RCV001246124; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284838631284838637:g.128483863T>C-
NM_001458.5(FLNC):c.2830G>A (p.Val944Met)2318FLNCUncertain significance2128936081RCV001929642; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128483868128483868128483868-
NM_001458.5(FLNC):c.2832G>T (p.Val944=)2318FLNCLikely benign-1RCV002863454; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483870128483870-
NM_001458.5(FLNC):c.2833A>G (p.Thr945Ala)2318FLNCUncertain significance-1RCV003082957; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483871128483871NC_000007.13:g.128483871A>G-
NM_001458.5(FLNC):c.2838T>C (p.Tyr946=)2318FLNCLikely benign769390195RCV001452750|RCV003298775; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128483876128483876128483876-
NM_001458.5(FLNC):c.2838T>A (p.Tyr946Ter)2318FLNCPathogenic769390195RCV001699638|RCV002538626; NMedGen:C3661900|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128483876128483876128483876-
NM_001458.5(FLNC):c.2839G>C (p.Gly947Arg)2318FLNCLikely benign372741923RCV000649214|RCV002440346; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284838771284838777:g.128483877G>CClinGen:CA4474878C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2840G>A (p.Gly947Asp)2318FLNCUncertain significance-1RCV003005264; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483878128483878NC_000007.13:g.128483878G>A-
NM_001458.5(FLNC):c.2841C>T (p.Gly947=)2318FLNCBenign/Likely benign547060988RCV000550584|RCV001700413|RCV002438464|RCV001584312; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN169374|MedGen:CN230736|MedGen:C366190071284838791284838797:g.128483879C>TClinGen:CA4474879C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2842G>A (p.Gly948Arg)2318FLNCUncertain significance768103657RCV000538451|RCV001570072|RCV002483472|RCV002438465; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MONDO:MONDO:0012289,MedGen:C18371284838801284838807:g.128483880G>AClinGen:CA4474880C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2843G>A (p.Gly948Glu)2318FLNCConflicting interpretations of pathogenicity373298499RCV001326747|RCV001773652|RCV002438750; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN2307367128483881128483881128483881-
NM_001458.5(FLNC):c.2844G>A (p.Gly948=)2318FLNCLikely benign-1RCV002435287|RCV003102784; NMedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128483882128483882-
NM_001458.5(FLNC):c.2845G>T (p.Asp949Tyr)2318FLNCUncertain significance761905908RCV000550922; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284838831284838837:g.128483883G>TClinGen:CA369193411C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2845G>C (p.Asp949His)2318FLNCUncertain significance761905908RCV000690174|RCV003163144; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128483883128483883NC_000007.13:g.128483883G>C-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2845G>A (p.Asp949Asn)2318FLNCLikely benign761905908RCV002003626; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128483883128483883128483883-
NM_001458.5(FLNC):c.2846del (p.Asp949fs)2318FLNCPathogenic2128936089RCV001957430; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483884128483884128483883-
NM_001458.5(FLNC):c.2847C>G (p.Asp949Glu)2318FLNCUncertain significance1808441944RCV001305930; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128483885128483885128483885-
NM_001458.5(FLNC):c.2847C>A (p.Asp949Glu)2318FLNCUncertain significance1808441944RCV001349554; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128483885128483885128483885-
NM_001458.5(FLNC):c.2851G>T (p.Val951Phe)2318FLNCUncertain significance760566825RCV000649079; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483889128483889NC_000007.13:g.128483889G>TClinGen:CA4474885C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2856C>T (p.Pro952=)2318FLNCLikely benign2128936094RCV002157922; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128483894128483894128483894-
NM_001458.5(FLNC):c.2862C>G (p.Ser954Arg)2318FLNCUncertain significance766581831RCV001235371; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284839001284839007:g.128483900C>G-
NM_001458.5(FLNC):c.2862C>T (p.Ser954=)2318FLNCLikely benign766581831RCV002151056; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128483900128483900128483900-
NM_001458.5(FLNC):c.2872del (p.Val957_Val958insTer)2318FLNCPathogenic1401551498RCV001242615|RCV001268508; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN51720271284839091284839097:g.128483909_128483909del-
NM_001458.5(FLNC):c.2874G>C (p.Val958=)2318FLNCLikely benign754046100RCV000956206|RCV003307761; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284839121284839127:g.128483912G>C-
NM_001458.5(FLNC):c.2874G>A (p.Val958=)2318FLNCLikely benign754046100RCV002138737|RCV003308018; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128483912128483912128483912-
NM_001458.5(FLNC):c.2879T>G (p.Val960Gly)2318FLNCConflicting interpretations of pathogenicity568452175RCV001756857|RCV001868454|RCV002440856; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128483917128483917128483917-
NM_001458.5(FLNC):c.2879T>C (p.Val960Ala)2318FLNCUncertain significance568452175RCV001942691|RCV003146280; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C36619007128483917128483917128483917-
NM_001458.5(FLNC):c.2884C>A (p.Pro962Thr)2318FLNCUncertain significance765301554RCV001362033|RCV002438839; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128483922128483922128483922-
NM_001458.5(FLNC):c.2888C>T (p.Pro963Leu)2318FLNCUncertain significance963838554RCV001212447|RCV002436818|RCV003145391; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN230736|MedGen:CN51720271284839261284839267:g.128483926C>T-
NM_001458.5(FLNC):c.2889G>A (p.Pro963=)2318FLNCBenign/Likely benign191892345RCV000421903|RCV000526571|RCV001703747|RCV002436280; NMedGen:CN169374|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN23073671284839271284839277:g.128483927G>AClinGen:CA4474892C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2890C>A (p.Leu964Met)2318FLNCUncertain significance1562996103RCV000704179; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284839281284839287:g.128483928C>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2897T>C (p.Leu966Pro)2318FLNCUncertain significance2128936106RCV001917463; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483935128483935128483935-
NM_001458.5(FLNC):c.2900G>A (p.Ser967Asn)2318FLNCUncertain significance-1RCV002438075|RCV003102858; NMedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128483938128483938128483938-
NM_001458.5(FLNC):c.2905del (p.Ile969fs)2318FLNCPathogenic2128936107RCV001390201; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128483940128483940128483939-
NM_001458.5(FLNC):c.2907C>A (p.Ile969=)2318FLNCLikely benign368059457RCV000950994|RCV001547009|RCV002434313|RCV003150373; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN230736|Human Phenotype71284839451284839457:g.128483945C>A-
NM_001458.5(FLNC):c.2911G>A (p.Val971Ile)2318FLNCUncertain significance548199973RCV002018998|RCV003146440; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:C36619007128483949128483949128483949-
NM_001458.5(FLNC):c.2911G>C (p.Val971Leu)2318FLNCUncertain significance548199973RCV001955941|RCV002441090; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128483949128483949128483949-
NM_001458.5(FLNC):c.2914C>T (p.Gln972Ter)2318FLNCPathogenic-1RCV002882058; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483952128483952NC_000007.13:g.128483952C>T-
NM_001458.5(FLNC):c.2915A>G (p.Gln972Arg)2318FLNCUncertain significance-1RCV002756722; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483953128483953NC_000007.13:g.128483953A>G-
NM_001458.5(FLNC):c.2916G>A (p.Gln972=)2318FLNCLikely benign2128936110RCV002188446; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128483954128483954128483954-
NM_001458.5(FLNC):c.2918del (p.Gly973fs)2318FLNCPathogenic-1RCV002846864; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483954128483954NC_000007.13:g.128483956del-
NM_001458.5(FLNC):c.2917G>A (p.Gly973Ser)2318FLNCUncertain significance2128936113RCV002000484|RCV002227573; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|EFO:EFO_0000407,Human Phenotype Ontology:HP:0007128483955128483955128483955-
NM_001458.5(FLNC):c.2919C>T (p.Gly973=)2318FLNCLikely benign-1RCV002731491; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483957128483957-
NM_001458.5(FLNC):c.2929+2_2929+7del2318FLNCLikely pathogenic2128936119RCV002041480; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128483968128483973128483967-
NM_001458.5(FLNC):c.2929+5G>C2318FLNCUncertain significance-1RCV002894143; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483972128483972NC_000007.13:g.128483972G>C-
NM_001458.5(FLNC):c.2929+6T>G2318FLNCUncertain significance2128936121RCV001867572; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128483973128483973128483973-
NM_001458.5(FLNC):c.2929+8G>A2318FLNCLikely benign1808445965RCV002199830; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128483975128483975128483975-
NM_001458.5(FLNC):c.2929+9G>T2318FLNCLikely benign1585159046RCV001434567; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284839761284839767:g.128483976G>T-
NM_001458.5(FLNC):c.2929+10G>T2318FLNCLikely benign747678158RCV001476511; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284839771284839777:g.128483977G>T-
NM_001458.5(FLNC):c.2929+10G>A2318FLNCLikely benign747678158RCV001437161; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128483977128483977128483977-
NM_001458.5(FLNC):c.2929+16G>C2318FLNCLikely benign-1RCV002857844; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483983128483983NC_000007.13:g.128483983G>C-
NM_001458.5(FLNC):c.2929+18C>T2318FLNCLikely benign-1RCV002918878; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483985128483985NC_000007.13:g.128483985C>T-
NM_001458.5(FLNC):c.2929+20C>A2318FLNCLikely benign-1RCV003073804; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128483987128483987NC_000007.13:g.128483987C>A-
NM_001458.5(FLNC):c.2930-13G>A2318FLNCLikely benign367572660RCV001587156|RCV002579464; NMedGen:C3661900|MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484045128484045128484045-
NM_001458.5(FLNC):c.2930-9_2930-7dup2318FLNCLikely benign-1RCV002640304; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484046128484047NC_000007.13:g.128484049_128484051dup-
NM_001458.5(FLNC):c.2930-10C>T2318FLNCLikely benign2128936139RCV001501223; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484048128484048128484048-
NM_001458.5(FLNC):c.2930-7C>A2318FLNCLikely benign1324607570RCV001039060; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284840511284840517:g.128484051C>A-
NM_001458.5(FLNC):c.2930-7C>T2318FLNCLikely benign-1RCV002928458; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484051128484051NC_000007.13:g.128484051C>T-
NM_001458.5(FLNC):c.2930-5C>T2318FLNCConflicting interpretations of pathogenicity371599113RCV000585170|RCV001084700|RCV002438519; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284840531284840537:g.128484053C>TClinGen:CA4474917CN517202 not provided;
NM_001458.5(FLNC):c.2930-5C>G2318FLNCUncertain significance371599113RCV001368185; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128484053128484053128484053-
NM_001458.5(FLNC):c.2930-4G>A2318FLNCLikely benign747623690RCV001399379; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128484054128484054128484054-
NM_001458.5(FLNC):c.2930-4G>T2318FLNCUncertain significance747623690RCV001947574; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128484054128484054128484054-
NM_001458.5(FLNC):c.2930-1G>A2318FLNCLikely pathogenic-1RCV002440057|RCV003102891; NMedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128484057128484057128484057-
NM_001458.5(FLNC):c.2930A>G (p.Lys977Arg)2318FLNCUncertain significance1808450221RCV001227643; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284840581284840587:g.128484058A>G-
NM_001458.5(FLNC):c.2934G>A (p.Val978=)2318FLNCLikely benign771749289RCV001498887|RCV001815569; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C36619007128484062128484062128484062-
NM_001458.5(FLNC):c.2935G>A (p.Ala979Thr)2318FLNCLikely benign-1RCV002633863; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484063128484063NC_000007.13:g.128484063G>A-
NM_001458.5(FLNC):c.2937T>A (p.Ala979=)2318FLNCLikely benign746977392RCV000943485|RCV002434300; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284840651284840657:g.128484065T>A-
NM_001458.5(FLNC):c.2938G>C (p.Val980Leu)2318FLNCUncertain significance-1RCV002582429; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484066128484066NC_000007.13:g.128484066G>C-
NM_001458.5(FLNC):c.2943A>G (p.Gly981=)2318FLNCLikely benign759397444RCV000526916; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284840711284840717:g.128484071A>GClinGen:CA457847776C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2950C>T (p.Gln984Ter)2318FLNCPathogenic769865678RCV001205574; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284840781284840787:g.128484078C>T-
NM_001458.5(FLNC):c.2953G>A (p.Ala985Thr)2318FLNCUncertain significance1179474749RCV000812336|RCV002440760|RCV003145172; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MedGen:CN51720271284840811284840817:g.128484081G>A-
NM_001458.5(FLNC):c.2961T>C (p.Ser987=)2318FLNCLikely benign2128936155RCV001410563; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128484089128484089128484089-
NM_001458.5(FLNC):c.2967C>T (p.Asn989=)2318FLNCLikely benign775727204RCV001432359; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284840951284840957:g.128484095C>T-
NM_001458.5(FLNC):c.2967C>A (p.Asn989Lys)2318FLNCConflicting interpretations of pathogenicity775727204RCV001059891|RCV002436635|RCV003145318; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MedGen:CN51720271284840951284840957:g.128484095C>A-
NM_001458.5(FLNC):c.2969C>T (p.Thr990Ile)2318FLNCUncertain significance933349270RCV002008672; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128484097128484097128484097-
NM_001458.5(FLNC):c.2971C>T (p.Arg991Ter)2318FLNCPathogenic/Likely pathogenic886037830RCV001239831|RCV002494806; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:60952471284840991284840997:g.128484099C>TClinVar:427828,ClinGen:CA166177514C0007193 Primary dilated cardiomyopathy;
NM_001458.5(FLNC):c.2971C>A (p.Arg991=)2318FLNCLikely benign886037830RCV001394725; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128484099128484099128484099-
NM_001458.5(FLNC):c.2972G>A (p.Arg991Gln)2318FLNCUncertain significance-1RCV003053116|RCV003171036; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128484100128484100NC_000007.13:g.128484100G>A-
NM_001458.5(FLNC):c.2977del (p.Ala993fs)2318FLNCPathogenic-1RCV002908873; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484102128484102NC_000007.13:g.128484105del-
NM_001458.5(FLNC):c.2975G>A (p.Gly992Glu)2318FLNCUncertain significance1419637272RCV001345174; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128484103128484103128484103-
NM_001458.5(FLNC):c.2978C>T (p.Ala993Val)2318FLNCUncertain significance2128936160RCV002039364; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128484106128484106128484106-
NM_001458.5(FLNC):c.2981G>T (p.Gly994Val)2318FLNCUncertain significance-1RCV002947740; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484109128484109NC_000007.13:g.128484109G>T-
NM_001458.5(FLNC):c.2982C>G (p.Gly994=)2318FLNCLikely benign947174901RCV000649188|RCV003303062; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284841101284841107:g.128484110C>GClinGen:CA457847834C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2982C>T (p.Gly994=)2318FLNCLikely benign947174901RCV001699713|RCV001724392|RCV002073271; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128484110128484110128484110-
NM_001458.5(FLNC):c.2983G>A (p.Gly995Ser)2318FLNCUncertain significance752053093RCV001360590|RCV002291752|RCV002438832; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN2307367128484111128484111128484111-
NM_001458.5(FLNC):c.2984G>A (p.Gly995Asp)2318FLNCUncertain significance1808452430RCV001048121|RCV003233937; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN51720271284841121284841127:g.128484112G>A-
NM_001458.5(FLNC):c.2994A>G (p.Gln998=)2318FLNCLikely benign558712725RCV000649239|RCV002440347; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284841221284841227:g.128484122A>GClinGen:CA4474930C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.2999A>C (p.Asp1000Ala)2318FLNCConflicting interpretations of pathogenicity1457558516RCV001919252|RCV002441043|RCV003401895; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|7128484127128484127128484127-
NM_001458.5(FLNC):c.3000T>C (p.Asp1000=)2318FLNCBenign/Likely benign184454068RCV000249182|RCV000552303|RCV001640514|RCV002436082|RCV002494730; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C3661900|MedGen:CN23073671284841281284841287:g.128484128T>CClinGen:CA4474931C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3001G>A (p.Val1001Met)2318FLNCUncertain significance1037999644RCV001204877|RCV002436788; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284841291284841297:g.128484129G>A-
NM_001458.5(FLNC):c.3004C>T (p.Arg1002Trp)2318FLNCUncertain significance555764780RCV001222334|RCV002436863|RCV002497758; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MONDO:MONDO:0014883,MedGen:C43171284841321284841327:g.128484132C>T-
NM_001458.5(FLNC):c.3005G>A (p.Arg1002Gln)2318FLNCUncertain significance202039743RCV000540744|RCV000658214|RCV003159895; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN2307367128484133128484133NC_000007.13:g.128484133G>AClinGen:CA4474932C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3006G>A (p.Arg1002=)2318FLNCBenign61737781RCV000402374|RCV000528307|RCV001701987|RCV002436114; NMedGen:CN169374|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C3661900|MedGen:CN23073671284841341284841347:g.128484134G>AClinGen:CA4474933C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3006G>C (p.Arg1002=)2318FLNCLikely benign61737781RCV002122195; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128484134128484134128484134-
NM_001458.5(FLNC):c.3007A>C (p.Met1003Leu)2318FLNCUncertain significance1808453806RCV001066189|RCV003317427; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN51720271284841351284841357:g.128484135A>C-
NM_001458.5(FLNC):c.3014C>T (p.Ser1005Leu)2318FLNCUncertain significance752448040RCV000656160|RCV001859998|RCV002483547; NHuman Phenotype Ontology:HP:0001716,MONDO:MONDO:0008685,MedGen:C0043202,OMIM:194200, Orphanet:907|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C47128484142128484142NC_000007.13:g.128484142C>TClinGen:CA4474935C0043202 194200 Wolff-Parkinson-White pattern;
NM_001458.5(FLNC):c.3015G>A (p.Ser1005=)2318FLNCLikely benign1278675439RCV002068738|RCV003346252; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN23073671284841431284841437:g.128484143G>A-
NM_001458.5(FLNC):c.3019del (p.Ser1007fs)2318FLNCPathogenic2128936173RCV001924894; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128484147128484147128484146-
NM_001458.5(FLNC):c.3022C>T (p.Arg1008Cys)2318FLNCConflicting interpretations of pathogenicity757969015RCV000552673|RCV001550424|RCV002506360|RCV002438467; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MONDO:MONDO:0012289,MedGen:C18371284841501284841507:g.128484150C>TClinGen:CA4474936C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3023G>A (p.Arg1008His)2318FLNCConflicting interpretations of pathogenicity777492254RCV001215020|RCV001751399; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN51720271284841511284841517:g.128484151G>A-
NM_001458.5(FLNC):c.3023G>T (p.Arg1008Leu)2318FLNCUncertain significance-1RCV002301842; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128484151128484151128484151-
NM_001458.5(FLNC):c.3025C>T (p.Arg1009Trp)2318FLNCConflicting interpretations of pathogenicity-1RCV002574086|RCV003146582; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN5172027128484153128484153NC_000007.13:g.128484153C>T-
NM_001458.5(FLNC):c.3025C>G (p.Arg1009Gly)2318FLNCUncertain significance-1RCV002650606; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484153128484153NC_000007.13:g.128484153C>G-
NM_001458.5(FLNC):c.3026G>A (p.Arg1009Gln)2318FLNCUncertain significance375445167RCV001773876|RCV001882853; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128484154128484154128484154-
NM_001458.5(FLNC):c.3032T>C (p.Ile1011Thr)2318FLNCUncertain significance1808454823RCV001219606; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284841601284841607:g.128484160T>C-
NM_001458.5(FLNC):c.3033C>T (p.Ile1011=)2318FLNCLikely benign757092972RCV000932274; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN23931071284841611284841617:g.128484161C>T-
NM_001458.5(FLNC):c.3033C>A (p.Ile1011=)2318FLNCLikely benign757092972RCV002160325; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128484161128484161128484161-
NM_001458.5(FLNC):c.3039C>A (p.Cys1013Ter)2318FLNCPathogenic1554399014RCV000528633|RCV001381192; NMedGen:CN239310|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284841671284841677:g.128484167C>AClinGen:CA369194055CN239310 Dilated Cardiomyopathy, Dominant;
NM_001458.5(FLNC):c.3045G>A (p.Leu1015=)2318FLNCLikely benign369511914RCV002137379|RCV002443193; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128484173128484173128484173-
NM_001458.5(FLNC):c.3052G>A (p.Gly1018Ser)2318FLNCUncertain significance2128936181RCV002006210; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128484180128484180128484180-
NM_001458.5(FLNC):c.3054C>T (p.Gly1018=)2318FLNCConflicting interpretations of pathogenicity769624093RCV000176052|RCV000649237|RCV002444705; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284841821284841827:g.128484182C>TClinGen:CA241918C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3054C>A (p.Gly1018=)2318FLNCLikely benign769624093RCV002126080; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128484182128484182128484182-
NM_001458.5(FLNC):c.3055G>T (p.Gly1019Cys)2318FLNCConflicting interpretations of pathogenicity200864007RCV000533220|RCV002497175|RCV002448764; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:6095247128484183128484183NC_000007.13:g.128484183G>TClinGen:CA4474944C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3055G>A (p.Gly1019Ser)2318FLNCLikely benign200864007RCV000649217|RCV001579748|RCV002449073; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|MedGen:CN23073671284841831284841837:g.128484183G>AClinGen:CA4474943C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3057T>C (p.Gly1019=)2318FLNCLikely benign2128936183RCV002443134|RCV002205150; NMedGen:CN230736|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128484185128484185128484185-
NM_001458.5(FLNC):c.3058G>A (p.Gly1020Arg)2318FLNCUncertain significance2128936185RCV001972095|RCV003320858; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C36619007128484186128484186128484186-
NM_001458.5(FLNC):c.3062C>T (p.Ala1021Val)2318FLNCUncertain significance574118437RCV000545694|RCV002448765|RCV001561486; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MedGen:C366190071284841901284841907:g.128484190C>TClinGen:CA4474945C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3063G>A (p.Ala1021=)2318FLNCLikely benign774361595RCV001483030|RCV003434269|RCV002449277; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN2307367128484191128484191128484191-
NM_001458.5(FLNC):c.3065A>C (p.Glu1022Ala)2318FLNCUncertain significance1808455747RCV001068873; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284841931284841937:g.128484193A>C-
NM_001458.5(FLNC):c.3067G>C (p.Ala1023Pro)2318FLNCUncertain significance376107866RCV000793929; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN23931071284841951284841957:g.128484195G>C-
NM_001458.5(FLNC):c.3067G>A (p.Ala1023Thr)2318FLNCUncertain significance376107866RCV001903905; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128484195128484195128484195-
NM_001458.5(FLNC):c.3069C>G (p.Ala1023=)2318FLNCLikely benign1022641897RCV000553588; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284841971284841977:g.128484197C>GClinGen:CA166177717C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3070C>T (p.Gln1024Ter)2318FLNCPathogenic2128936189RCV001384942; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128484198128484198128484198-
NM_001458.5(FLNC):c.3079C>T (p.Arg1027Cys)2318FLNCUncertain significance541775814RCV001299769|RCV002319696; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128484207128484207128484207-
NM_001458.5(FLNC):c.3080G>A (p.Arg1027His)2318FLNCUncertain significance904161285RCV001920049|RCV002319734|RCV003146317; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|MedGen:C36619007128484208128484208128484208-
NM_001458.5(FLNC):c.3081C>A (p.Arg1027=)2318FLNCLikely benign1554399030RCV000530138; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284842091284842097:g.128484209C>AClinGen:CA457847957C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3084C>A (p.Tyr1028Ter)2318FLNCPathogenic761978559RCV001043745; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284842121284842127:g.128484212C>A-
NM_001458.5(FLNC):c.3085A>G (p.Met1029Val)2318FLNCUncertain significance369078760RCV000547281; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284842131284842137:g.128484213A>GClinGen:CA4474948C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3088C>A (p.Pro1030Thr)2318FLNCUncertain significance1554399034RCV000559554; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128484216128484216NC_000007.13:g.128484216C>AClinGen:CA369194273C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3092del (p.Pro1031fs)2318FLNCPathogenic-1RCV003061562; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484216128484216NC_000007.13:g.128484220del-
NM_001458.5(FLNC):c.3089C>G (p.Pro1030Arg)2318FLNCUncertain significance2128936198RCV001875696|RCV003303297; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128484217128484217128484217-
NM_001458.5(FLNC):c.3090C>T (p.Pro1030=)2318FLNCLikely benign760926290RCV000830807|RCV001081733|RCV001700311|RCV002319943; NMedGen:CN517202|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN169374|MedGen:CN23073671284842181284842187:g.128484218C>T-
NM_001458.5(FLNC):c.3092C>A (p.Pro1031Gln)2318FLNCLikely benign372467579RCV000685414; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128484220128484220NC_000007.13:g.128484220C>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3092C>T (p.Pro1031Leu)2318FLNCConflicting interpretations of pathogenicity372467579RCV000793885|RCV002325504; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284842201284842207:g.128484220C>T-
NM_001458.5(FLNC):c.3092C>G (p.Pro1031Arg)2318FLNCUncertain significance372467579RCV001732408|RCV002539808; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128484220128484220128484220-
NM_001458.5(FLNC):c.3093G>A (p.Pro1031=)2318FLNCUncertain significance1203053799RCV001245617; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284842211284842217:g.128484221G>A-
NM_001458.5(FLNC):c.3096G>C (p.Glu1032Asp)2318FLNCUncertain significance-1RCV002791018|RCV003308287; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310|MedGen:CN2307367128484224128484224NC_000007.13:g.128484224G>C-
NM_001458.5(FLNC):c.3102G>T (p.Gly1034=)2318FLNCLikely benign758066777RCV001447882|RCV002322483; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128484230128484230128484230-
NM_001458.5(FLNC):c.3111G>A (p.Lys1037=)2318FLNCLikely benign1808458398RCV001506935; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128484239128484239128484239-
NM_001458.5(FLNC):c.3114G>A (p.Val1038=)2318FLNCConflicting interpretations of pathogenicity376516180RCV000827366|RCV001488885|RCV002319938; NMedGen:CN517202|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284842421284842427:g.128484242G>A-
NM_001458.5(FLNC):c.3114G>T (p.Val1038=)2318FLNCLikely benign376516180RCV001446397; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484242128484242128484242-
NM_001458.5(FLNC):c.3115G>A (p.Asp1039Asn)2318FLNCUncertain significance1808458838RCV001300673; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128484243128484243128484243-
NM_001458.5(FLNC):c.3118A>G (p.Ile1040Val)2318FLNCUncertain significance759012932RCV001241306; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284842461284842467:g.128484246A>G-
NM_001458.5(FLNC):c.3122C>T (p.Thr1041Ile)2318FLNCUncertain significance557380928RCV001068263; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284842501284842507:g.128484250C>T-
NM_001458.5(FLNC):c.3126C>T (p.Tyr1042=)2318FLNCLikely benign745872537RCV001461742|RCV002322507; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128484254128484254128484254-
NM_001458.5(FLNC):c.3127G>A (p.Asp1043Asn)2318FLNCConflicting interpretations of pathogenicity755896041RCV001236122|RCV002322131; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284842551284842557:g.128484255G>A-
NM_001458.5(FLNC):c.3129T>C (p.Asp1043=)2318FLNCLikely benign1160980989RCV001455799; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128484257128484257128484257-
NM_001458.5(FLNC):c.3133C>A (p.His1045Asn)2318FLNCConflicting interpretations of pathogenicity201863231RCV000497327|RCV000701577|RCV002323864|RCV002506207; NMedGen:CN517202|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN230736|MONDO:MONDO:00171284842611284842617:g.128484261C>AClinGen:CA4474960C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3135C>T (p.His1045=)2318FLNCLikely benign988307328RCV002110235; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128484263128484263128484263-
NM_001458.5(FLNC):c.3136C>G (p.Pro1046Ala)2318FLNCUncertain significance749099313RCV001070296; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284842641284842647:g.128484264C>G-
NM_001458.5(FLNC):c.3137C>T (p.Pro1046Leu)2318FLNCUncertain significance768820218RCV000813817|RCV002292584|RCV003279094; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C3661900|MedGen:CN23073671284842651284842657:g.128484265C>T-
NM_001458.5(FLNC):c.3138G>A (p.Pro1046=)2318FLNCBenign/Likely benign369739262RCV000876270|RCV001698134|RCV002323617; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|MedGen:CN23073671284842661284842667:g.128484266G>AClinGen:CA4474963CN169374 not specified;
NM_001458.5(FLNC):c.3141G>C (p.Val1047=)2318FLNCLikely benign1554399057RCV000649253; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284842691284842697:g.128484269G>CClinGen:CA457847988C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3141G>A (p.Val1047=)2318FLNCLikely benign1554399057RCV002093861; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128484269128484269128484269-
NM_001458.5(FLNC):c.3142C>T (p.Pro1048Ser)2318FLNCUncertain significance-1RCV003014596; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484270128484270NC_000007.13:g.128484270C>T-
NM_001458.5(FLNC):c.3143C>T (p.Pro1048Leu)2318FLNCUncertain significance2128936216RCV001940128; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128484271128484271128484271-
NM_001458.5(FLNC):c.3145_3146delinsTT (p.Gly1049Phe)2318FLNCConflicting interpretations of pathogenicity1585159401RCV000815069|RCV002487789|RCV003279097; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:6170477128484273128484274NC_000007.13:g.128484273_128484274delinsTT-
NM_001458.5(FLNC):c.3148A>G (p.Ser1050Gly)2318FLNCLikely benign773580485RCV000535742; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128484276128484276NC_000007.13:g.128484276A>GClinGen:CA4474966C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3152C>T (p.Pro1051Leu)2318FLNCUncertain significance546130026RCV000696672; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128484280128484280NC_000007.13:g.128484280C>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3153G>A (p.Pro1051=)2318FLNCLikely benign373694043RCV000877076|RCV001593110|RCV002320054|RCV003150367; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN230736|Human Phenotype71284842811284842817:g.128484281G>A-
NM_001458.5(FLNC):c.3153G>T (p.Pro1051=)2318FLNCLikely benign373694043RCV001412283; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128484281128484281128484281-
NM_001458.5(FLNC):c.3160G>A (p.Val1054Met)2318FLNCUncertain significance-1RCV002903813; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484288128484288NC_000007.13:g.128484288G>A-
NM_001458.5(FLNC):c.3166G>A (p.Gly1056Ser)2318FLNCUncertain significance1287987501RCV002045715; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128484294128484294128484294-
NM_001458.5(FLNC):c.3167G>A (p.Gly1056Asp)2318FLNCUncertain significance763807492RCV002024962; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128484295128484295128484295-
NM_001458.5(FLNC):c.3175C>G (p.Pro1059Ala)2318FLNCUncertain significance767119310RCV001907663; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128484303128484303128484303-
NM_001458.5(FLNC):c.3179del (p.Pro1060fs)2318FLNCPathogenic-1RCV002856153; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484303128484303NC_000007.13:g.128484307del-
NM_001458.5(FLNC):c.3177C>T (p.Pro1059=)2318FLNCLikely benign-1RCV002690080; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484305128484305-
NM_001458.5(FLNC):c.3178C>G (p.Pro1060Ala)2318FLNCUncertain significance2128936236RCV001973769|RCV003170293; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MeSH:D030342,MedGen:C09501237128484306128484306128484306-
NM_001458.5(FLNC):c.3180del (p.Asp1061fs)2318FLNCPathogenic/Likely pathogenic1064795229RCV000483656|RCV000701770; NMedGen:CN517202|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284843081284843087:g.128484308_128484308delClinGen:CA16618352C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3186C>T (p.Pro1062=)2318FLNCLikely benign749902294RCV001465330|RCV002322510; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128484314128484314128484314-
NM_001458.5(FLNC):c.3187T>C (p.Ser1063Pro)2318FLNCUncertain significance-1RCV002829964; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484315128484315NC_000007.13:g.128484315T>C-
NM_001458.5(FLNC):c.3192+17T>C2318FLNCLikely benign2128936246RCV002092813; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128484337128484337128484337-
NM_001458.5(FLNC):c.3192+19G>A2318FLNCLikely benign1162838049RCV002145298; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128484339128484339128484339-
NM_001458.5(FLNC):c.3193-13C>T2318FLNCLikely benign-1RCV002781291; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484699128484699NC_000007.13:g.128484699C>T-
NM_001458.5(FLNC):c.3193-5C>T2318FLNCLikely benign1808477946RCV001426195; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128484707128484707128484707-
NM_001458.5(FLNC):c.3193-2A>G2318FLNCConflicting interpretations of pathogenicity749889670RCV000695584|RCV002442465|RCV002507212|RCV003318627; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MONDO:MONDO:0014883,MedGen:C4317128484710128484710NC_000007.13:g.128484710A>G-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3201T>G (p.Ala1067=)2318FLNCBenign/Likely benign760214102RCV000542941|RCV002324025; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128484720128484720NC_000007.13:g.128484720T>GClinGen:CA4474993C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3201T>C (p.Ala1067=)2318FLNCLikely benign760214102RCV002207071; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484720128484720128484720-
NM_001458.5(FLNC):c.3207C>T (p.Gly1069=)2318FLNCLikely benign753825183RCV000649248|RCV002449074; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284847261284847267:g.128484726C>TClinGen:CA166178268C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3209C>T (p.Pro1070Leu)2318FLNCConflicting interpretations of pathogenicity370391049RCV000649094|RCV001756082|RCV002325296|RCV003420137; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:C3661900|MedGen:CN230736|71284847281284847287:g.128484728C>TClinGen:CA4474996C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3210G>A (p.Pro1070=)2318FLNCLikely benign-1RCV002999742; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484729128484729-
NM_001458.5(FLNC):c.3217A>C (p.Lys1073Gln)2318FLNCUncertain significance2128936345RCV002021816; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128484736128484736128484736-
NM_001458.5(FLNC):c.3221dup (p.Gly1075fs)2318FLNCPathogenic2128936346RCV001926381; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128484737128484738128484737-
NM_001458.5(FLNC):c.3226C>T (p.Leu1076=)2318FLNCLikely benign777887406RCV001465156; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484745128484745128484745-
NM_001458.5(FLNC):c.3234C>T (p.Gly1078=)2318FLNCUncertain significance1808479678RCV001209204; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284847531284847537:g.128484753C>T-
NM_001458.5(FLNC):c.3236C>A (p.Thr1079Asn)2318FLNCUncertain significance2128936356RCV001959998; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484755128484755128484755-
NM_001458.5(FLNC):c.3238C>T (p.Pro1080Ser)2318FLNCUncertain significance950648783RCV001204795|RCV001376040; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:61406571284847571284847577:g.128484757C>T-
NM_001458.5(FLNC):c.3240C>T (p.Pro1080=)2318FLNCLikely benign570290798RCV001422013|RCV002324026; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128484759128484759NC_000007.13:g.128484759C>TClinGen:CA4475002C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3241G>A (p.Ala1081Thr)2318FLNCConflicting interpretations of pathogenicity781760817RCV000535936|RCV001569474|RCV002448766; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN23073671284847601284847607:g.128484760G>AClinGen:CA4475003C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3241G>T (p.Ala1081Ser)2318FLNCLikely benign781760817RCV000797452; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN23931071284847601284847607:g.128484760G>T-
NM_001458.5(FLNC):c.3242C>T (p.Ala1081Val)2318FLNCConflicting interpretations of pathogenicity200169573RCV000649184|RCV000762481|RCV001196412|RCV002325300; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|MONDO:MONDO:0014883,MedGen:C43171284847611284847617:g.128484761C>TClinGen:CA4475005C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3243G>A (p.Ala1081=)2318FLNCConflicting interpretations of pathogenicity534482249RCV000176185|RCV001088404|RCV002321695; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284847621284847627:g.128484762G>AClinGen:CA242061C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3243G>T (p.Ala1081=)2318FLNCLikely benign534482249RCV002141477; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128484762128484762128484762-
NM_001458.5(FLNC):c.3246A>G (p.Pro1082=)2318FLNCLikely benign-1RCV002627916; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484765128484765-
NM_001458.5(FLNC):c.3247T>C (p.Phe1083Leu)2318FLNCUncertain significance1354409050RCV001877363|RCV002324267; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN2307367128484766128484766128484766-
NM_001458.5(FLNC):c.3247T>A (p.Phe1083Ile)2318FLNCUncertain significance1354409050RCV001908404|RCV003334401; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|7128484766128484766128484766-
NM_001458.5(FLNC):c.3255C>T (p.Ile1085=)2318FLNCLikely benign771719713RCV000956207|RCV002320171|RCV003331007; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310|MedGen:CN230736|MedGen:CN16937471284847741284847747:g.128484774C>T-
NM_001458.5(FLNC):c.3256G>A (p.Asp1086Asn)2318FLNCUncertain significance369398096RCV001309505; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128484775128484775128484775-
NM_001458.5(FLNC):c.3257_3258delinsTA (p.Asp1086Val)2318FLNCUncertain significance2128936367RCV001980494; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128484776128484777128484776-
NM_001458.5(FLNC):c.3260C>G (p.Thr1087Ser)2318FLNCConflicting interpretations of pathogenicity372205719RCV000649121|RCV002325298|RCV003441996; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN230736|MedGen:C366190071284847791284847797:g.128484779C>GClinGen:CA166178312C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3264G>A (p.Lys1088=)2318FLNCUncertain significance1808481662RCV001340611; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128484783128484783128484783-
NM_001458.5(FLNC):c.3265G>A (p.Gly1089Arg)2318FLNCUncertain significance1554399171RCV000649084; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284847841284847847:g.128484784G>AClinGen:CA369196333C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3266G>A (p.Gly1089Glu)2318FLNCUncertain significance1258543242RCV001315402; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128484785128484785128484785-
NM_001458.5(FLNC):c.3267G>T (p.Gly1089=)2318FLNCLikely benign-1RCV002881992; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484786128484786-
NM_001458.5(FLNC):c.3268G>T (p.Ala1090Ser)2318FLNCUncertain significance760158891RCV002045493|RCV003269074; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MeSH:D030342,MedGen:C09501237128484787128484787128484787-
NM_001458.5(FLNC):c.3275C>A (p.Thr1092Lys)2318FLNCUncertain significance1405189650RCV001351073|RCV002322302; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128484794128484794128484794-
NM_001458.5(FLNC):c.3278G>A (p.Gly1093Asp)2318FLNCUncertain significance1374868566RCV001352347|RCV002447441; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128484797128484797128484797-
NM_001458.5(FLNC):c.3289C>T (p.Leu1097=)2318FLNCLikely benign1585159939RCV001456820; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN23931071284848081284848087:g.128484808C>T-
NM_001458.5(FLNC):c.3294C>T (p.Thr1098=)2318FLNCLikely benign753772262RCV000908304|RCV001422463|RCV003307677; NMedGen:CN517202|MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284848131284848137:g.128484813C>T-
NM_001458.5(FLNC):c.3295G>A (p.Val1099Ile)2318FLNCConflicting interpretations of pathogenicity759452636RCV000487754|RCV001368325|RCV002323848|RCV003150239; NMedGen:C3661900|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|Human Phenotype71284848141284848147:g.128484814G>AClinGen:CA4475012CN517202 not provided;
NM_001458.5(FLNC):c.3297A>G (p.Val1099=)2318FLNCBenign3734973RCV000117069|RCV000711679|RCV001520068|RCV002453430; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN23073671284848161284848167:g.128484816A>GClinGen:CA152844CN169374 not specified;
NM_001458.5(FLNC):c.3300G>A (p.Glu1100=)2318FLNCLikely benign1313856787RCV002172323|RCV002324522; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128484819128484819128484819-
NM_001458.5(FLNC):c.3303C>T (p.Gly1101=)2318FLNCLikely benign568106945RCV001467235; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284848221284848227:g.128484822C>T-
NM_001458.5(FLNC):c.3304C>T (p.Pro1102Ser)2318FLNCConflicting interpretations of pathogenicity199707920RCV000649155|RCV001265885|RCV002051873|RCV002458122|RCV003150321; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MeSH:D030342,MedGen:C0950123|MedGen:CN517202|Me71284848231284848237:g.128484823C>TClinGen:CA4475013C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3308G>A (p.Cys1103Tyr)2318FLNCUncertain significance1238364459RCV001902403; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128484827128484827128484827-
NM_001458.5(FLNC):c.3309C>T (p.Cys1103=)2318FLNCBenign/Likely benign-1RCV002326271|RCV003102351; NMedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128484828128484828-
NM_001458.5(FLNC):c.3310G>A (p.Glu1104Lys)2318FLNCConflicting interpretations of pathogenicity535109443RCV001066386|RCV001570850|RCV003160546; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|MedGen:CN23073671284848291284848297:g.128484829G>A-
NM_001458.5(FLNC):c.3312G>A (p.Glu1104=)2318FLNCLikely benign-1RCV002326329|RCV003099388; NMedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128484831128484831-
NM_001458.5(FLNC):c.3313G>T (p.Ala1105Ser)2318FLNCUncertain significance751887771RCV001337288; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128484832128484832128484832-
NM_001458.5(FLNC):c.3317A>G (p.Lys1106Arg)2318FLNCUncertain significance1349933620RCV002011726; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484836128484836128484836-
NM_001458.5(FLNC):c.3321C>T (p.Ile1107=)2318FLNCLikely benign775641996RCV000874277|RCV002320039; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN23073671284848401284848407:g.128484840C>T-
NM_001458.5(FLNC):c.3322G>A (p.Glu1108Lys)2318FLNCUncertain significance781352216RCV001225140; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284848411284848417:g.128484841G>A-
NM_001458.5(FLNC):c.3324G>A (p.Glu1108=)2318FLNCLikely benign-1RCV002694790; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484843128484843-
NM_001458.5(FLNC):c.3339T>G (p.Gly1113=)2318FLNCLikely benign756592172RCV002171835; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484858128484858128484858-
NM_001458.5(FLNC):c.3342T>C (p.Asp1114=)2318FLNCLikely benign2128936400RCV001465086; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484861128484861128484861-
NM_001458.5(FLNC):c.3344G>A (p.Gly1115Asp)2318FLNCUncertain significance2128936401RCV001888476; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128484863128484863128484863-
NM_001458.5(FLNC):c.3348A>T (p.Ser1116=)2318FLNCLikely benign1053209205RCV000979584|RCV002320190; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN23073671284848671284848677:g.128484867A>T-
NM_001458.5(FLNC):c.3350G>T (p.Cys1117Phe)2318FLNCUncertain significance-1RCV003026183; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484869128484869NC_000007.13:g.128484869G>T-
NM_001458.5(FLNC):c.3353C>T (p.Ala1118Val)2318FLNCConflicting interpretations of pathogenicity780461379RCV001976944|RCV002324452|RCV003146453; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|MedGen:C36619007128484872128484872128484872-
NM_001458.5(FLNC):c.3354T>C (p.Ala1118=)2318FLNCLikely benign2128936403RCV001425497; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128484873128484873128484873-
NM_001458.5(FLNC):c.3358A>G (p.Ser1120Gly)2318FLNCUncertain significance749637616RCV001204803; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284848771284848777:g.128484877A>G-
NM_001458.5(FLNC):c.3366G>A (p.Leu1122=)2318FLNCLikely benign-1RCV002712125; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484885128484885-
NM_001458.5(FLNC):c.3371C>A (p.Thr1124Lys)2318FLNCUncertain significance375013141RCV001309555; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128484890128484890128484890-
NM_001458.5(FLNC):c.3371C>T (p.Thr1124Met)2318FLNCUncertain significance375013141RCV001299891; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128484890128484890128484890-
NM_001458.5(FLNC):c.3372G>A (p.Thr1124=)2318FLNCConflicting interpretations of pathogenicity556913973RCV000519790|RCV001373804; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284848911284848917:g.128484891G>AClinGen:CA4475026CN169374 not specified;
NM_001458.5(FLNC):c.3375G>A (p.Glu1125=)2318FLNCLikely benign1317937683RCV002075834; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128484894128484894128484894-
NM_001458.5(FLNC):c.3376C>G (p.Pro1126Ala)2318FLNCUncertain significance748785077RCV000689993|RCV002458223|RCV003150331; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|Human Phenotype Ontology:HP:0007128484895128484895NC_000007.13:g.128484895C>G-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3377C>G (p.Pro1126Arg)2318FLNCUncertain significance1808488088RCV001226606; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284848961284848967:g.128484896C>G-
NM_001458.5(FLNC):c.3381C>T (p.Gly1127=)2318FLNCLikely benign1052000080RCV001044727; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284849001284849007:g.128484900C>T-
NM_001458.5(FLNC):c.3381C>A (p.Gly1127=)2318FLNCLikely benign1052000080RCV001459203|RCV002456778; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128484900128484900128484900-
NM_001458.5(FLNC):c.3382G>A (p.Glu1128Lys)2318FLNCConflicting interpretations of pathogenicity145724410RCV001215776|RCV002451474|RCV003145399; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MedGen:C366190071284849011284849017:g.128484901G>A-
NM_001458.5(FLNC):c.3384G>A (p.Glu1128=)2318FLNCLikely benign2128936416RCV001447681; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484903128484903128484903-
NM_001458.5(FLNC):c.3387C>T (p.Tyr1129=)2318FLNCLikely benign765189701RCV000933944; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN23931071284849061284849067:g.128484906C>T-
NM_001458.5(FLNC):c.3391A>G (p.Ile1131Val)2318FLNCUncertain significance773110786RCV001210609; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284849101284849107:g.128484910A>G-
NM_001458.5(FLNC):c.3395A>G (p.Asn1132Ser)2318FLNCUncertain significance2128936421RCV001914630; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128484914128484914128484914-
NM_001458.5(FLNC):c.3402G>C (p.Leu1134=)2318FLNCLikely benign1185395026RCV001501953; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484921128484921128484921-
NM_001458.5(FLNC):c.3402G>A (p.Leu1134=)2318FLNCLikely benign-1RCV003010067; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484921128484921-
NM_001458.5(FLNC):c.3405T>C (p.Phe1135=)2318FLNCLikely benign775337940RCV001486099|RCV002454028; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284849241284849247:g.128484924T>C-
NM_001458.5(FLNC):c.3407C>T (p.Ala1136Val)2318FLNCUncertain significance762793681RCV002014663|RCV002492103; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:6095247128484926128484926128484926-
NM_001458.5(FLNC):c.3415del (p.His1139fs)2318FLNCPathogenic1808489575RCV001065920; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284849321284849327:g.128484932_128484932del-
NM_001458.5(FLNC):c.3414C>T (p.Ala1138=)2318FLNCLikely benign751401489RCV001422567; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128484933128484933128484933-
NM_001458.5(FLNC):c.3415C>T (p.His1139Tyr)2318FLNCUncertain significance1562996847RCV000706434; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284849341284849347:g.128484934C>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3417C>T (p.His1139=)2318FLNCLikely benign-1RCV003093729; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484936128484936-
NM_001458.5(FLNC):c.3418A>G (p.Ile1140Val)2318FLNCUncertain significance2128936425RCV001976643; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128484937128484937128484937-
NM_001458.5(FLNC):c.3426C>T (p.Gly1142=)2318FLNCBenign/Likely benign201313781RCV000524985|RCV002456214; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284849451284849457:g.128484945C>TClinGen:CA4475036C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3428C>T (p.Ser1143Leu)2318FLNCUncertain significance756192123RCV000537571|RCV003456413; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C366190071284849471284849477:g.128484947C>TClinGen:CA4475037C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3429G>A (p.Ser1143=)2318FLNCLikely benign780592878RCV002100818|RCV002331723; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128484948128484948128484948-
NM_001458.5(FLNC):c.3430C>T (p.Pro1144Ser)2318FLNCUncertain significance1585160095RCV000809140; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284849491284849497:g.128484949C>T-
NM_001458.5(FLNC):c.3431C>T (p.Pro1144Leu)2318FLNCUncertain significance200723434RCV001218239; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284849501284849507:g.128484950C>T-
NM_001458.5(FLNC):c.3431_3432delinsGT (p.Pro1144Arg)2318FLNCUncertain significance-1RCV003052378; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484950128484951NC_000007.13:g.128484950_128484951delinsGT-
NM_001458.5(FLNC):c.3443C>T (p.Thr1148Ile)2318FLNCUncertain significance2128936430RCV001371932; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128484962128484962128484962-
NM_001458.5(FLNC):c.3443C>G (p.Thr1148Ser)2318FLNCUncertain significance-1RCV002685721; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484962128484962NC_000007.13:g.128484962C>G-
NM_001458.5(FLNC):c.3448C>T (p.Arg1150Trp)2318FLNCUncertain significance779184516RCV001208068|RCV001773466|RCV002451446; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN517202|MedGen:CN23073671284849671284849677:g.128484967C>T-
NM_001458.5(FLNC):c.3448C>A (p.Arg1150=)2318FLNCLikely benign779184516RCV001442230; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484967128484967128484967-
NM_001458.5(FLNC):c.3448C>G (p.Arg1150Gly)2318FLNCUncertain significance779184516RCV001925558|RCV003146349; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C36619007128484967128484967128484967-
NM_001458.5(FLNC):c.3449G>A (p.Arg1150Gln)2318FLNCConflicting interpretations of pathogenicity371372377RCV001036878|RCV001562864|RCV002460125; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C3661900|MedGen:CN23073671284849681284849687:g.128484968G>A-
NM_001458.5(FLNC):c.3454G>T (p.Val1152Leu)2318FLNCUncertain significance1396046243RCV001319436; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128484973128484973128484973-
NM_001458.5(FLNC):c.3456G>A (p.Val1152=)2318FLNCLikely benign-1RCV002636400; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484975128484975-
NM_001458.5(FLNC):c.3458T>G (p.Phe1153Cys)2318FLNCUncertain significance138663492RCV000416211|RCV000649142|RCV003168609; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284849771284849777:g.128484977T>GClinGen:CA4475045C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3458T>A (p.Phe1153Tyr)2318FLNCUncertain significance-1RCV002636401; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484977128484977NC_000007.13:g.128484977T>A-
NM_001458.5(FLNC):c.3463C>G (p.Pro1155Ala)2318FLNCUncertain significance745361779RCV001368973; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128484982128484982128484982-
NM_001458.5(FLNC):c.3464C>T (p.Pro1155Leu)2318FLNCConflicting interpretations of pathogenicity769243979RCV000788732|RCV001869210|RCV003411733; NMedGen:C3661900|MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|71284849831284849837:g.128484983C>T-
NM_001458.5(FLNC):c.3465G>A (p.Pro1155=)2318FLNCConflicting interpretations of pathogenicity374686347RCV000918078|RCV002454096; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284849841284849847:g.128484984G>A-
NM_001458.5(FLNC):c.3465G>C (p.Pro1155=)2318FLNCUncertain significance-1RCV002885965; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484984128484984-
NM_001458.5(FLNC):c.3465G>T (p.Pro1155=)2318FLNCUncertain significance-1RCV003032425; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484984128484984-
NM_001458.5(FLNC):c.3467G>A (p.Ser1156Asn)2318FLNCUncertain significance768725458RCV001202875|RCV002460135; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284849861284849867:g.128484986G>A-
NM_001458.5(FLNC):c.3468C>T (p.Ser1156=)2318FLNCLikely benign-1RCV003068986; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128484987128484987-
NM_001458.5(FLNC):c.3475C>T (p.Arg1159Trp)2318FLNCUncertain significance760500171RCV000416038|RCV000549914|RCV002338978; NMedGen:CN517202|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284849941284849947:g.128484994C>TClinGen:CA4475051C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3476G>A (p.Arg1159Gln)2318FLNCConflicting interpretations of pathogenicity141199483RCV000418627|RCV000812023|RCV003168624; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284849951284849957:g.128484995G>AClinGen:CA4475052CN169374 not specified;
NM_001458.5(FLNC):c.3482_3483delinsTC (p.Ser1161Ile)2318FLNCUncertain significance-1RCV002711028; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128485001128485002NC_000007.13:g.128485001_128485002delinsTC-
NM_001458.5(FLNC):c.3488C>T (p.Pro1163Leu)2318FLNCUncertain significance377489161RCV000649083|RCV002334177|RCV002464280; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MedGen:CN51720271284850071284850077:g.128485007C>TClinGen:CA4475054C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3488C>A (p.Pro1163Gln)2318FLNCUncertain significance377489161RCV001060100; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284850071284850077:g.128485007C>A-
NM_001458.5(FLNC):c.3489G>C (p.Pro1163=)2318FLNCConflicting interpretations of pathogenicity369853278RCV000294105|RCV001080613|RCV002450815|RCV003150150; NMedGen:CN517202|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|Human Phenotype71284850081284850087:g.128485008G>CClinGen:CA4475055C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3489G>A (p.Pro1163=)2318FLNCLikely benign369853278RCV000607093|RCV002063091; NMedGen:CN169374|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284850081284850087:g.128485008G>AClinGen:CA457848337CN169374 not specified;
NM_001458.5(FLNC):c.3499C>T (p.Arg1167Cys)2318FLNCUncertain significance766439553RCV000696166|RCV000711680|RCV000768503|RCV002458257; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN517202|Human Phenotype Ontology:HP:00071284850181284850187:g.128485018C>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3500G>A (p.Arg1167His)2318FLNCConflicting interpretations of pathogenicity574074583RCV001056996|RCV003145312; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C366190071284850191284850197:g.128485019G>A-
NM_001458.5(FLNC):c.3501C>T (p.Arg1167=)2318FLNCLikely benign544320561RCV000951404|RCV002454182; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284850201284850207:g.128485020C>T-
NM_001458.5(FLNC):c.3502G>A (p.Gly1168Ser)2318FLNCConflicting interpretations of pathogenicity199814952RCV001309258|RCV001760373|RCV002456400; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|MedGen:CN2307367128485021128485021128485021-
NM_001458.5(FLNC):c.3502G>T (p.Gly1168Cys)2318FLNCUncertain significance199814952RCV001961978; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128485021128485021128485021-
NM_001458.5(FLNC):c.3506A>G (p.Lys1169Arg)2318FLNCBenign/Likely benign530742766RCV000289546|RCV000649192|RCV002338861; NMedGen:CN169374|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284850251284850257:g.128485025A>GClinGen:CA4475060C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3510C>T (p.Val1170=)2318FLNCLikely benign745571747RCV000542332|RCV001707737|RCV002456215|RCV003330787; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN230736|MedGen:CN16937471284850291284850297:g.128485029C>TClinGen:CA4475063C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3510C>G (p.Val1170=)2318FLNCLikely benign745571747RCV001413659; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128485029128485029128485029-
NM_001458.5(FLNC):c.3511G>A (p.Gly1171Ser)2318FLNCUncertain significance769490872RCV000649107|RCV003329320; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN51720271284850301284850307:g.128485030G>AClinGen:CA4475064C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3511G>T (p.Gly1171Cys)2318FLNCUncertain significance769490872RCV000823716; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284850301284850307:g.128485030G>T-
NM_001458.5(FLNC):c.3512G>A (p.Gly1171Asp)2318FLNCUncertain significance1298622480RCV001245716; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284850311284850317:g.128485031G>A-
NM_001458.5(FLNC):c.3512G>T (p.Gly1171Val)2318FLNCUncertain significance-1RCV002300225; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128485031128485031128485031-
NM_001458.5(FLNC):c.3513T>C (p.Gly1171=)2318FLNCLikely benign1259009437RCV002174898; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128485032128485032128485032-
NM_001458.5(FLNC):c.3518C>T (p.Ala1173Val)2318FLNCUncertain significance1229255608RCV001036119; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284850371284850377:g.128485037C>T-
NM_001458.5(FLNC):c.3529A>G (p.Thr1177Ala)2318FLNCLikely benign748850596RCV000802085; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284850481284850487:g.128485048A>G-
NM_001458.5(FLNC):c.3539G>T (p.Cys1180Phe)2318FLNCUncertain significance1319931619RCV001203585; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284850581284850587:g.128485058G>T-
NM_001458.5(FLNC):c.3541T>C (p.Ser1181Pro)2318FLNCUncertain significance2128936467RCV001363819; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128485060128485060128485060-
NM_001458.5(FLNC):c.3552C>G (p.Gly1184=)2318FLNCLikely benign373310802RCV001496241|RCV002454081; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284850711284850717:g.128485071C>G-
NM_001458.5(FLNC):c.3552C>T (p.Gly1184=)2318FLNCConflicting interpretations of pathogenicity-1RCV002633657|RCV003420388; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|7128485071128485071-
NM_001458.5(FLNC):c.3553G>A (p.Glu1185Lys)2318FLNCConflicting interpretations of pathogenicity912926530RCV000445151|RCV000702103; NMedGen:CN169374|MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284850721284850727:g.128485072G>AClinGen:CA16605647C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3557C>T (p.Ala1186Val)2318FLNCPathogenic/Likely pathogenic1114167361RCV000492004|RCV000538844|RCV000987973|RCV000763162|RCV001266689|RCV001556592|RCV001814165; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:61406571284850761284850767:g.128485076C>TClinGen:CA369197234C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3558G>A (p.Ala1186=)2318FLNCLikely benign774467047RCV001593560|RCV002072322|RCV002458547; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128485077128485077128485077-
NM_001458.5(FLNC):c.3564G>A (p.Leu1188=)2318FLNCLikely benign761683129RCV002100488; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128485083128485083128485083-
NM_001458.5(FLNC):c.3568A>G (p.Ile1190Val)2318FLNCUncertain significance1259241248RCV002051235; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128485087128485087128485087-
NM_001458.5(FLNC):c.3572A>G (p.Glu1191Gly)2318FLNCUncertain significance772055432RCV001346096; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128485091128485091128485091-
NM_001458.5(FLNC):c.3581C>T (p.Ser1194Leu)2318FLNCUncertain significance773481064RCV000822200|RCV002453895; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284851001284851007:g.128485100C>T-
NM_001458.5(FLNC):c.3582G>A (p.Ser1194=)2318FLNCLikely benign200712644RCV001456374|RCV002454047; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284851011284851017:g.128485101G>A-
NM_001458.5(FLNC):c.3588C>T (p.Ala1196=)2318FLNCLikely benign376078628RCV000649245|RCV002334180; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284851071284851077:g.128485107C>TClinGen:CA4475073C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3589G>A (p.Gly1197Arg)2318FLNCUncertain significance753812010RCV000556230|RCV002307543; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN51720271284851081284851087:g.128485108G>AClinGen:CA4475074C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3592G>C (p.Val1198Leu)2318FLNCConflicting interpretations of pathogenicity201912847RCV000532440|RCV001508593|RCV002341413; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN23073671284851111284851117:g.128485111G>CClinGen:CA4475076C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3595A>G (p.Lys1199Glu)2318FLNCUncertain significance753260970RCV001996548; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128485114128485114128485114-
NM_001458.5(FLNC):c.3599C>T (p.Ala1200Val)2318FLNCUncertain significance-1RCV002473424|RCV002569390; NMedGen:CN517202|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128485118128485118NC_000007.13:g.128485118C>T-
NM_001458.5(FLNC):c.3600C>T (p.Ala1200=)2318FLNCLikely benign777931249RCV000649250|RCV003150324; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|Human Phenotype Ontology:HP:0001638,MONDO:MONDO71284851191284851197:g.128485119C>TClinGen:CA4475079C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3601G>A (p.Glu1201Lys)2318FLNCUncertain significance751963297RCV000796704|RCV003144603; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN51720271284851201284851207:g.128485120G>A-
NM_001458.5(FLNC):c.3601G>C (p.Glu1201Gln)2318FLNCUncertain significance751963297RCV001306221; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128485120128485120128485120-
NM_001458.5(FLNC):c.3603G>A (p.Glu1201=)2318FLNCLikely benign755671727RCV002142969; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128485122128485122128485122-
NM_001458.5(FLNC):c.3606G>A (p.Val1202=)2318FLNCLikely benign374499671RCV001466115; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128485125128485125128485125-
NM_001458.5(FLNC):c.3615C>T (p.His1205=)2318FLNCLikely benign1554399300RCV000526255; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284851341284851347:g.128485134C>TClinGen:CA457578689C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3618C>T (p.Asn1206=)2318FLNCLikely benign1039623010RCV001504584; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284851371284851377:g.128485137C>T-
NM_001458.5(FLNC):c.3618C>A (p.Asn1206Lys)2318FLNCUncertain significance1039623010RCV001983158; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128485137128485137128485137-
NM_001458.5(FLNC):c.3621C>T (p.Asn1207=)2318FLNCBenign117864464RCV000421795|RCV000544773|RCV001698337|RCV002451049; NMedGen:CN169374|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:C3661900|MedGen:CN23073671284851401284851407:g.128485140C>TClinGen:CA4475086C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3621C>G (p.Asn1207Lys)2318FLNCUncertain significance117864464RCV001296302; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128485140128485140128485140-
NM_001458.5(FLNC):c.3622G>A (p.Ala1208Thr)2318FLNCConflicting interpretations of pathogenicity528279616RCV000532655|RCV002456216; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128485141128485141NC_000007.13:g.128485141G>AClinGen:CA4475087C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3623C>T (p.Ala1208Val)2318FLNCConflicting interpretations of pathogenicity202184162RCV000545271|RCV001198638|RCV001569461|RCV002460091; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:61704771284851421284851427:g.128485142C>TClinGen:CA4475088C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3624G>A (p.Ala1208=)2318FLNCBenign35281128RCV000117070|RCV000552809|RCV000711681|RCV002453431; NMedGen:CN169374|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:C3661900|MedGen:CN23073671284851431284851437:g.128485143G>AClinGen:CA152847C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3629G>A (p.Gly1210Asp)2318FLNCUncertain significance-1RCV003117290; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128485148128485148NC_000007.13:g.128485148G>A-
NM_001458.5(FLNC):c.3630C>A (p.Gly1210=)2318FLNCLikely benign771020495RCV000649224; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284851491284851497:g.128485149C>AClinGen:CA457578728C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3639C>T (p.His1213=)2318FLNCLikely benign2128936499RCV002077000; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128485158128485158128485158-
NM_001458.5(FLNC):c.3643A>C (p.Thr1215Pro)2318FLNCUncertain significance2128936501RCV001920458; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128485162128485162128485162-
NM_001458.5(FLNC):c.3645C>A (p.Thr1215=)2318FLNCLikely benign-1RCV002452448|RCV003094276; NMedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128485164128485164-
NM_001458.5(FLNC):c.3649A>T (p.Ser1217Cys)2318FLNCConflicting interpretations of pathogenicity759597112RCV000557529|RCV003144353; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN51720271284851681284851687:g.128485168A>TClinGen:CA4475092C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3654T>G (p.Pro1218=)2318FLNCLikely benign1357609481RCV001483331|RCV002456847; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128485173128485173128485173-
NM_001458.5(FLNC):c.3656C>T (p.Ala1219Val)2318FLNCUncertain significance775551445RCV001978519; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128485175128485175128485175-
NM_001458.5(FLNC):c.3663T>C (p.Pro1221=)2318FLNCLikely benign369734958RCV001499465; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128485182128485182128485182-
NM_001458.5(FLNC):c.3670_3671dup (p.Ile1226fs)2318FLNCPathogenic1808505973RCV001234418; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284851881284851897:g.128485188_128485189insTA-
NM_001458.5(FLNC):c.3676A>G (p.Ile1226Val)2318FLNCUncertain significance1808506817RCV002040695; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128485195128485195128485195-
NM_001458.5(FLNC):c.3679dup (p.Thr1227fs)2318FLNCPathogenic-1RCV002899239; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128485197128485198NC_000007.13:g.128485198dup-
NM_001458.5(FLNC):c.3680C>T (p.Thr1227Ile)2318FLNCConflicting interpretations of pathogenicity373573447RCV000649179|RCV001570028|RCV002343339; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN517202|MedGen:CN23073671284851991284851997:g.128485199C>TClinGen:CA4475098C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3687G>A (p.Lys1229=)2318FLNCLikely benign1585160379RCV001444976; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284852061284852067:g.128485206G>A-
NM_001458.5(FLNC):c.3689A>G (p.Tyr1230Cys)2318FLNCUncertain significance863225116RCV000201481|RCV001853229; NHuman Phenotype Ontology:HP:0001638,MONDO:MONDO:0004994,MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,Med71284852081284852087:g.128485208A>GClinGen:CA339606C0878544 Cardiomyopathy;
NM_001458.5(FLNC):c.3693_3695dup (p.Gly1232dup)2318FLNCUncertain significance1808507351RCV001241982|RCV003145466; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN51720271284852091284852107:g.128485209_128485210insGGC-
NM_001458.5(FLNC):c.3692G>A (p.Gly1231Asp)2318FLNCUncertain significance1808507457RCV001237287; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284852111284852117:g.128485211G>A-
NM_001458.5(FLNC):c.3693C>T (p.Gly1231=)2318FLNCConflicting interpretations of pathogenicity765922145RCV000533727|RCV001703736|RCV002348186; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|MedGen:CN23073671284852121284852127:g.128485212C>TClinGen:CA4475099C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3694G>A (p.Gly1232Arg)2318FLNCUncertain significance754533053RCV000819239|RCV002223137; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:61704771284852131284852137:g.128485213G>A-
NM_001458.5(FLNC):c.3695_3698del (p.Gly1232fs)2318FLNCPathogenic2128936511RCV001942059|RCV003289306; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128485214128485217128485213-
NM_001458.5(FLNC):c.3696G>A (p.Gly1232=)2318FLNCLikely benign1057066602RCV001433378|RCV002350853; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128485215128485215128485215-
NM_001458.5(FLNC):c.3699del (p.Val1235fs)2318FLNCPathogenic1808508148RCV001035700; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284852181284852187:g.128485218_128485218del-
NM_001458.5(FLNC):c.3702del (p.Val1235fs)2318FLNCPathogenic2128936516RCV001380511; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128485219128485219128485218-
NM_001458.5(FLNC):c.3702C>T (p.Pro1234=)2318FLNCLikely benign778503145RCV001424375|RCV002350828; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128485221128485221128485221-
NM_001458.5(FLNC):c.3703G>A (p.Val1235Met)2318FLNCUncertain significance1208885010RCV000649113|RCV003162967; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128485222128485222NC_000007.13:g.128485222G>AClinGen:CA369197763C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3706C>T (p.Pro1236Ser)2318FLNCUncertain significance747678267RCV001224210; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284852251284852257:g.128485225C>T-
NM_001458.5(FLNC):c.3711del (p.Lys1237fs)2318FLNCPathogenic2128936518RCV001949283; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128485228128485228128485227-
NM_001458.5(FLNC):c.3711A>C (p.Lys1237Asn)2318FLNCConflicting interpretations of pathogenicity758220780RCV000805240|RCV001567298|RCV002345806; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN23073671284852301284852307:g.128485230A>C-
NM_001458.5(FLNC):c.3713T>C (p.Phe1238Ser)2318FLNCConflicting interpretations of pathogenicity777798089RCV001309759|RCV001548025|RCV002350563; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|MedGen:CN2307367128485232128485232128485232-
NM_001458.5(FLNC):c.3713T>G (p.Phe1238Cys)2318FLNCUncertain significance777798089RCV001346896; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128485232128485232128485232-
NM_001458.5(FLNC):c.3717C>T (p.Pro1239=)2318FLNCLikely benign-1RCV002349048|RCV003094324; NMedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128485236128485236-
NM_001458.5(FLNC):c.3721C>T (p.Arg1241Cys)2318FLNCBenign/Likely benign146953558RCV000243106|RCV000546730|RCV001572642|RCV002347955; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C3661900|MedGen:CN23073671284852401284852407:g.128485240C>TClinGen:CA4475106C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3722G>A (p.Arg1241His)2318FLNCConflicting interpretations of pathogenicity370520806RCV001241271|RCV002348821|RCV002480805; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|MONDO:MONDO:0013550,MedGen:C32771284852411284852417:g.128485241G>A-
NM_001458.5(FLNC):c.3723T>C (p.Arg1241=)2318FLNCLikely benign-1RCV002933105; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128485242128485242-
NM_001458.5(FLNC):c.3730G>A (p.Val1244Met)2318FLNCUncertain significance746023653RCV001891933; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128485249128485249128485249-
NM_001458.5(FLNC):c.3730G>T (p.Val1244Leu)2318FLNCUncertain significance-1RCV002615002; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128485249128485249NC_000007.13:g.128485249G>T-
NM_001458.5(FLNC):c.3733_3737dup (p.Ala1247fs)2318FLNCPathogenic-1RCV002814617; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128485251128485252NC_000007.13:g.128485252_128485256dup-
NM_001458.5(FLNC):c.3740C>T (p.Ala1247Val)2318FLNCConflicting interpretations of pathogenicity775496136RCV000954800|RCV003145240|RCV002346163; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310|MedGen:CN517202|MedGen:CN23073671284852591284852597:g.128485259C>T-
NM_001458.5(FLNC):c.3741G>C (p.Ala1247=)2318FLNCLikely benign763047367RCV001488028; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128485260128485260128485260-
NM_001458.5(FLNC):c.3741G>A (p.Ala1247=)2318FLNCLikely benign-1RCV003009143; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128485260128485260-
NM_001458.5(FLNC):c.3744C>T (p.Val1248=)2318FLNCLikely benign374922440RCV000558971; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284852631284852637:g.128485263C>TClinGen:CA166179034C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3745G>A (p.Asp1249Asn)2318FLNCUncertain significance774968828RCV000649135|RCV002343337|RCV003144440; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MedGen:CN51720271284852641284852647:g.128485264G>AClinGen:CA4475114C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3753T>C (p.Ser1251=)2318FLNCLikely benign1228635169RCV001470708; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284852721284852727:g.128485272T>C-
NM_001458.5(FLNC):c.3756C>T (p.Gly1252=)2318FLNCLikely benign113589230RCV000874662|RCV002346022; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284852751284852757:g.128485275C>T-
NM_001458.5(FLNC):c.3757G>A (p.Val1253Ile)2318FLNCBenign/Likely benign117366477RCV000117071|RCV000535173|RCV001682809|RCV002345417; NMedGen:CN169374|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:C3661900|MedGen:CN2307367128485276128485276NC_000007.13:g.128485276G>AClinGen:CA152850C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3765C>A (p.Val1255=)2318FLNCBenign556428588RCV000551475|RCV001703202|RCV002350338|RCV001692180; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN169374|MedGen:CN230736|MedGen:C366190071284852841284852847:g.128485284C>AClinGen:CA4475117C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3765C>G (p.Val1255=)2318FLNCLikely benign556428588RCV002215533; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128485284128485284128485284-
NM_001458.5(FLNC):c.3772C>T (p.Pro1258Ser)2318FLNCConflicting interpretations of pathogenicity374764212RCV000527622|RCV001575518|RCV002350339; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:C3661900|MedGen:CN23073671284852911284852917:g.128485291C>TClinGen:CA4475120C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3773C>G (p.Pro1258Arg)2318FLNCConflicting interpretations of pathogenicity1425684282RCV001901491|RCV002344003; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128485292128485292128485292-
NM_001458.5(FLNC):c.3781G>C (p.Glu1261Gln)2318FLNCUncertain significance747033771RCV000809624; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284853001284853007:g.128485300G>C-
NM_001458.5(FLNC):c.3781G>A (p.Glu1261Lys)2318FLNCUncertain significance747033771RCV001235979; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284853001284853007:g.128485300G>A-
NM_001458.5(FLNC):c.3783G>A (p.Glu1261=)2318FLNCLikely benign1585160512RCV000981484; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284853021284853027:g.128485302G>A-
NM_001458.5(FLNC):c.3785C>T (p.Pro1262Leu)2318FLNCUncertain significance757144162RCV001914517; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128485304128485304128485304-
NM_001458.5(FLNC):c.3789C>T (p.His1263=)2318FLNCLikely benign780906350RCV000884051|RCV001403259|RCV002348250; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284853081284853087:g.128485308C>TClinGen:CA4475124CN169374 not specified;
NM_001458.5(FLNC):c.3790G>A (p.Gly1264Ser)2318FLNCUncertain significance201335143RCV000649127; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284853091284853097:g.128485309G>AClinGen:CA4475125C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3790G>T (p.Gly1264Cys)2318FLNCUncertain significance201335143RCV001773056|RCV001868632; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128485309128485309128485309-
NM_001458.5(FLNC):c.3790+5G>A2318FLNCConflicting interpretations of pathogenicity199917473RCV000649187|RCV002259360|RCV002360626; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|MedGen:CN23073671284853141284853147:g.128485314G>AClinGen:CA4475126C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3790+5G>C2318FLNCUncertain significance199917473RCV001908929; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128485314128485314128485314-
NM_001458.5(FLNC):c.3790+7G>A2318FLNCLikely benign534439574RCV000649205; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128485316128485316NC_000007.13:g.128485316G>AClinGen:CA4475127C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3790+15G>C2318FLNCLikely benign-1RCV002578353; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128485324128485324NC_000007.13:g.128485324G>C-
NM_001458.5(FLNC):c.3790+20C>A2318FLNCLikely benign1234654866RCV002206140; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128485329128485329128485329-
NM_001458.5(FLNC):c.3791-19C>T2318FLNCLikely benign763590558RCV002165687; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128486025128486025128486025-
NM_001458.5(FLNC):c.3791-18G>A2318FLNCBenign201845310RCV002127892; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128486026128486026128486026-
NM_001458.5(FLNC):c.3791-8G>A2318FLNCLikely benign374187337RCV000900119; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284860361284860367:g.128486036G>A-
NM_001458.5(FLNC):c.3791-1G>C2318FLNCPathogenic/Likely pathogenic781135153RCV000483809|RCV000799570|RCV001332010|RCV002356781; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MONDO:MONDO:0014883,MedGen:C43171284860431284860437:g.128486043G>CClinGen:CA4475142CN517202 not provided;
NM_001458.5(FLNC):c.3793G>A (p.Val1265Ile)2318FLNCUncertain significance368102638RCV000998915|RCV001241471; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284860461284860467:g.128486046G>A-
NM_001458.5(FLNC):c.3798G>T (p.Leu1266=)2318FLNCLikely benign755949518RCV000875929|RCV001593104|RCV003169196; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN23073671284860511284860517:g.128486051G>T-
NM_001458.5(FLNC):c.3798G>A (p.Leu1266=)2318FLNCLikely benign755949518RCV001401428|RCV002368260; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128486051128486051128486051-
NM_001458.5(FLNC):c.3799C>T (p.Arg1267Trp)2318FLNCConflicting interpretations of pathogenicity371483562RCV000699358|RCV000788675|RCV002360788|RCV002493217; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:00171284860521284860527:g.128486052C>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3800G>A (p.Arg1267Gln)2318FLNCConflicting interpretations of pathogenicity768767784RCV000649139|RCV002358859|RCV003144441; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN230736|MedGen:CN51720271284860531284860537:g.128486053G>AClinGen:CA4475147C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3803A>G (p.Glu1268Gly)2318FLNCUncertain significance1585161164RCV000806363; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284860561284860567:g.128486056A>G-
NM_001458.5(FLNC):c.3805G>T (p.Val1269Leu)2318FLNCUncertain significance1808547668RCV001209761; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284860581284860587:g.128486058G>T-
NM_001458.5(FLNC):c.3807G>A (p.Val1269=)2318FLNCConflicting interpretations of pathogenicity1585161170RCV000975496|RCV001486250; NMedGen:CN517202|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN23931071284860601284860607:g.128486060G>A-
NM_001458.5(FLNC):c.3812C>G (p.Thr1271Ser)2318FLNCConflicting interpretations of pathogenicity778997084RCV000873869|RCV001619854|RCV002354682; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN23073671284860651284860657:g.128486065C>G-
NM_001458.5(FLNC):c.3815A>G (p.Glu1272Gly)2318FLNCUncertain significance-1RCV003097456; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486068128486068NC_000007.13:g.128486068A>G-
NM_001458.5(FLNC):c.3822T>C (p.Thr1274=)2318FLNCLikely benign1172843229RCV001393388; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128486075128486075128486075-
NM_001458.5(FLNC):c.3829G>A (p.Ala1277Thr)2318FLNCUncertain significance1808548777RCV001214465; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284860821284860827:g.128486082G>A-
NM_001458.5(FLNC):c.3829G>T (p.Ala1277Ser)2318FLNCUncertain significance1808548777RCV002045449; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128486082128486082128486082-
NM_001458.5(FLNC):c.3832A>G (p.Arg1278Gly)2318FLNCUncertain significance772667448RCV001245908; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284860851284860857:g.128486085A>G-
NM_001458.5(FLNC):c.3833G>A (p.Arg1278Lys)2318FLNCConflicting interpretations of pathogenicity540117605RCV000649088|RCV001771892; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C366190071284860861284860867:g.128486086G>AClinGen:CA4475151C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3833G>C (p.Arg1278Thr)2318FLNCUncertain significance540117605RCV001989323; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128486086128486086128486086-
NM_001458.5(FLNC):c.3835T>C (p.Ser1279Pro)2318FLNCUncertain significance1562997744RCV000696977; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284860881284860887:g.128486088T>C-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3836C>T (p.Ser1279Phe)2318FLNCUncertain significance-1RCV003014567; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486089128486089NC_000007.13:g.128486089C>T-
NM_001458.5(FLNC):c.3837C>T (p.Ser1279=)2318FLNCLikely benign761100799RCV000842384|RCV001441253|RCV002352493; NMedGen:CN517202|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284860901284860907:g.128486090C>T-
NM_001458.5(FLNC):c.3838C>T (p.Leu1280=)2318FLNCBenign34180031RCV000117072|RCV000535374|RCV000711682|RCV002354297; NMedGen:CN169374|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:C3661900|MedGen:CN23073671284860911284860917:g.128486091C>TClinGen:CA152853C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3842C>T (p.Thr1281Ile)2318FLNCUncertain significance776862347RCV001575596|RCV001866063; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486095128486095128486095-
NM_001458.5(FLNC):c.3845C>T (p.Ala1282Val)2318FLNCUncertain significance1256859746RCV001935156|RCV002293539; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C36619007128486098128486098128486098-
NM_001458.5(FLNC):c.3847A>G (p.Thr1283Ala)2318FLNCLikely benign367860958RCV000547994|RCV001704280|RCV002356573; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN23073671284861001284861007:g.128486100A>GClinGen:CA4475154C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3851G>A (p.Gly1284Asp)2318FLNCConflicting interpretations of pathogenicity1041643602RCV001362107|RCV002357230; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128486104128486104128486104-
NM_001458.5(FLNC):c.3852C>T (p.Gly1284=)2318FLNCBenign111337293RCV000444123|RCV000528975|RCV002365506; NMedGen:CN169374|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284861051284861057:g.128486105C>TClinGen:CA4475155C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3853G>A (p.Gly1285Ser)2318FLNCConflicting interpretations of pathogenicity200928780RCV000649071|RCV001771891|RCV002286771|RCV002360619; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|MONDO:MONDO:0014883,MedGen:C43171284861061284861067:g.128486106G>AClinGen:CA4475156C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3854del (p.Gly1285fs)2318FLNCPathogenic1808550611RCV001046273; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284861061284861067:g.128486106_128486106del-
NM_001458.5(FLNC):c.3859_3866del (p.His1287fs)2318FLNCPathogenic-1RCV003027408; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486110128486117NC_000007.13:g.128486112_128486119del-
NM_001458.5(FLNC):c.3861C>T (p.His1287=)2318FLNCBenign/Likely benign375986462RCV000541593|RCV001696953|RCV002358568|RCV003330788; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN230736|MedGen:CN16937471284861141284861147:g.128486114C>TClinGen:CA4475158C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3862G>A (p.Val1288Met)2318FLNCUncertain significance750415476RCV000824612; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284861151284861157:g.128486115G>A-
NM_001458.5(FLNC):c.3862G>C (p.Val1288Leu)2318FLNCUncertain significance750415476RCV001303795|RCV002357105; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128486115128486115128486115-
NM_001458.5(FLNC):c.3864G>A (p.Val1288=)2318FLNCLikely benign2128936748RCV001459822; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128486117128486117128486117-
NM_001458.5(FLNC):c.3866C>T (p.Thr1289Met)2318FLNCConflicting interpretations of pathogenicity755896234RCV001344755|RCV002357188; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128486119128486119128486119-
NM_001458.5(FLNC):c.3866C>A (p.Thr1289Lys)2318FLNCLikely benign-1RCV002904173; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486119128486119NC_000007.13:g.128486119C>A-
NM_001458.5(FLNC):c.3867G>A (p.Thr1289=)2318FLNCLikely benign886038485RCV000250992|RCV001423882; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284861201284861207:g.128486120G>AClinGen:CA10586960CN169374 not specified;
NM_001458.5(FLNC):c.3871C>G (p.Arg1291Gly)2318FLNCLikely benign753591663RCV000649111; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486124128486124NC_000007.13:g.128486124C>GClinGen:CA4475163C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3871C>T (p.Arg1291Cys)2318FLNCUncertain significance753591663RCV000817302; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284861241284861247:g.128486124C>T-
NM_001458.5(FLNC):c.3872G>A (p.Arg1291His)2318FLNCConflicting interpretations of pathogenicity370042010RCV000689109|RCV001556998|RCV002352129; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:C3661900|MedGen:CN23073671284861251284861257:g.128486125G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3876G>A (p.Val1292=)2318FLNCLikely benign1192892491RCV002129922; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128486129128486129128486129-
NM_001458.5(FLNC):c.3879C>T (p.Leu1293=)2318FLNCLikely benign-1RCV003100175; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486132128486132-
NM_001458.5(FLNC):c.3881A>G (p.Asn1294Ser)2318FLNCUncertain significance944103680RCV000694689; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284861341284861347:g.128486134A>G-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3881A>T (p.Asn1294Ile)2318FLNCUncertain significance944103680RCV001215303|RCV003163650; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284861341284861347:g.128486134A>T-
NM_001458.5(FLNC):c.3882C>G (p.Asn1294Lys)2318FLNCUncertain significance1808552408RCV002013879; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128486135128486135128486135-
NM_001458.5(FLNC):c.3885C>T (p.Pro1295=)2318FLNCLikely benign778413094RCV001396627|RCV002367914; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284861381284861387:g.128486138C>TClinGen:CA4475167C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3885C>A (p.Pro1295=)2318FLNCLikely benign-1RCV002932437; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486138128486138-
NM_001458.5(FLNC):c.3887C>T (p.Ser1296Leu)2318FLNCConflicting interpretations of pathogenicity747587140RCV000649089|RCV001575499|RCV002358856|RCV002493037; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:00171284861401284861407:g.128486140C>TClinGen:CA4475168C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3887C>G (p.Ser1296Trp)2318FLNCUncertain significance747587140RCV001966600; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128486140128486140128486140-
NM_001458.5(FLNC):c.3888G>A (p.Ser1296=)2318FLNCConflicting interpretations of pathogenicity-1RCV002899883|RCV003274064; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310|MedGen:CN2307367128486141128486141-
NM_001458.5(FLNC):c.3890G>A (p.Gly1297Glu)2318FLNCUncertain significance771575526RCV002032139|RCV003146501|RCV002493989; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3277128486143128486143128486143-
NM_001458.5(FLNC):c.3893C>T (p.Ala1298Val)2318FLNCUncertain significance1064796931RCV000482004|RCV001064736|RCV002356793|RCV002489180; NMedGen:CN517202|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN230736|MONDO:MONDO:00171284861461284861467:g.128486146C>TClinGen:CA16618353CN169374 not specified;
NM_001458.5(FLNC):c.3905_3919dup (p.Thr1302_Asp1306dup)2318FLNCUncertain significance756167665RCV001299955; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128486149128486150128486149-
NM_001458.5(FLNC):c.3903C>T (p.Asp1301=)2318FLNCLikely benign777004360RCV001404911; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128486156128486156128486156-
NM_001458.5(FLNC):c.3905C>T (p.Thr1302Ile)2318FLNCUncertain significance746249435RCV000811120; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284861581284861587:g.128486158C>T-
NM_001458.5(FLNC):c.3908A>T (p.Tyr1303Phe)2318FLNCUncertain significance1808553804RCV001215578; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284861611284861617:g.128486161A>T-
NM_001458.5(FLNC):c.3909T>C (p.Tyr1303=)2318FLNCLikely benign1329973329RCV001429810|RCV002377688; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128486162128486162128486162-
NM_001458.5(FLNC):c.3919A>G (p.Asn1307Asp)2318FLNCUncertain significance1808554442RCV002043805; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128486172128486172128486172-
NM_001458.5(FLNC):c.3921T>C (p.Asn1307=)2318FLNCLikely benign369198655RCV002103504; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486174128486174128486174-
NM_001458.5(FLNC):c.3927C>T (p.Asp1309=)2318FLNCLikely benign761297336RCV001495242|RCV002377857; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128486180128486180128486180-
NM_001458.5(FLNC):c.3928G>A (p.Gly1310Ser)2318FLNCUncertain significance767079356RCV001773231|RCV001885068|RCV003163886; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128486181128486181128486181-
NM_001458.5(FLNC):c.3934_3937dup (p.Arg1313fs)2318FLNCPathogenic/Likely pathogenic1554399513RCV000554121|RCV001837994|RCV002358632; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN23073671284861831284861847:g.128486183_128486184insACCTClinGen:CA658657720C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3933_3937del (p.Tyr1312fs)2318FLNCPathogenic1808555459RCV001054046; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284861851284861897:g.128486185_128486189del-
NM_001458.5(FLNC):c.3937C>G (p.Arg1313Gly)2318FLNCUncertain significance766330686RCV000703716; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128486190128486190NC_000007.13:g.128486190C>G-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3937C>T (p.Arg1313Ter)2318FLNCPathogenic/Likely pathogenic766330686RCV000702917|RCV001546472|RCV002352198; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN517202|MedGen:CN23073671284861901284861907:g.128486190C>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3937C>A (p.Arg1313=)2318FLNCLikely benign766330686RCV001470688; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284861901284861907:g.128486190C>A-
NM_001458.5(FLNC):c.3938G>A (p.Arg1313Gln)2318FLNCConflicting interpretations of pathogenicity199804244RCV000541793|RCV000605853|RCV002358570|RCV003224329; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN169374|MedGen:CN230736|MONDO:MONDO:00171284861911284861917:g.128486191G>AClinGen:CA4475180C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3938G>C (p.Arg1313Pro)2318FLNCUncertain significance199804244RCV002006788; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128486191128486191128486191-
NM_001458.5(FLNC):c.3947A>G (p.Tyr1316Cys)2318FLNCUncertain significance2128936781RCV001962180; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128486200128486200128486200-
NM_001458.5(FLNC):c.3949_3950del (p.Thr1317fs)2318FLNCPathogenic-1RCV002848209; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486200128486201NC_000007.13:g.128486200AC[1]-
NM_001458.5(FLNC):c.3949A>G (p.Thr1317Ala)2318FLNCConflicting interpretations of pathogenicity377555574RCV000729536|RCV001044583|RCV002369990; NMedGen:CN517202|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN2307367128486202128486202NC_000007.13:g.128486202A>G-
NM_001458.5(FLNC):c.3951C>T (p.Thr1317=)2318FLNCLikely benign765476086RCV000432078|RCV000649215|RCV001079007|RCV002374676; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284862041284862047:g.128486204C>TClinGen:CA4475183C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3952G>T (p.Ala1318Ser)2318FLNCUncertain significance777939926RCV001858889|RCV002354914; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN23073671284862051284862057:g.128486205G>T-
NM_001458.5(FLNC):c.3952G>A (p.Ala1318Thr)2318FLNCConflicting interpretations of pathogenicity777939926RCV001864159|RCV002370380; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128486205128486205128486205-
NM_001458.5(FLNC):c.3953C>T (p.Ala1318Val)2318FLNCUncertain significance-1RCV002375437|RCV003094453; NMedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128486206128486206128486206-
NM_001458.5(FLNC):c.3956A>G (p.Tyr1319Cys)2318FLNCUncertain significance1808556919RCV001347740; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128486209128486209128486209-
NM_001458.5(FLNC):c.3957C>T (p.Tyr1319=)2318FLNCLikely benign781589024RCV001404637|RCV002357340; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128486210128486210128486210-
NM_001458.5(FLNC):c.3958G>A (p.Glu1320Lys)2318FLNCLikely benign746217788RCV001235457; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284862111284862117:g.128486211G>A-
NM_001458.5(FLNC):c.3960G>A (p.Glu1320=)2318FLNCLikely benign200717144RCV000525510|RCV001572548|RCV002358569; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN23073671284862131284862137:g.128486213G>AClinGen:CA4475190C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3964+1G>A2318FLNCLikely pathogenic1808557594RCV001042206; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284862181284862187:g.128486218G>A-
NM_001458.5(FLNC):c.3964+1G>T2318FLNCLikely pathogenic1808557594RCV001971741; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128486218128486218128486218-
NM_001458.5(FLNC):c.3964+5G>A2318FLNCUncertain significance2128936793RCV001787414|RCV001885210; NEFO:EFO_0005303,MeSH:D013398,MedGen:C0038644,OMIM:272120|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065,Orpha7128486222128486222128486222-
NM_001458.5(FLNC):c.3964+9C>T2318FLNCBenign/Likely benign200448727RCV000554412|RCV001575246|RCV002483473; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|MONDO:MONDO:0013550,MedGen:C32771284862261284862267:g.128486226C>TClinGen:CA4475191C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3964+10G>A2318FLNCLikely benign747730336RCV000649220; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284862271284862277:g.128486227G>AClinGen:CA4475192C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3965-20C>T2318FLNCLikely benign781712238RCV002138603; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128486335128486335128486335-
NM_001458.5(FLNC):c.3965-20C>A2318FLNCLikely benign-1RCV003092140; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486335128486335NC_000007.13:g.128486335C>A-
NM_001458.5(FLNC):c.3965-13G>C2318FLNCLikely benign1451257102RCV002111000; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128486342128486342128486342-
NM_001458.5(FLNC):c.3965-12G>T2318FLNCLikely benign368592349RCV002101970; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128486343128486343128486343-
NM_001458.5(FLNC):c.3966C>T (p.Gly1322=)2318FLNCConflicting interpretations of pathogenicity200237564RCV000176382|RCV000724251|RCV001079783|RCV002372088; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284863561284863567:g.128486356C>TClinGen:CA242312C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3966C>A (p.Gly1322=)2318FLNCLikely benign200237564RCV001473420; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128486356128486356128486356-
NM_001458.5(FLNC):c.3966C>G (p.Gly1322=)2318FLNCLikely benign-1RCV002736134; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486356128486356-
NM_001458.5(FLNC):c.3967G>A (p.Val1323Met)2318FLNCUncertain significance771676134RCV000649150; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284863571284863577:g.128486357G>AClinGen:CA4475213C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3967G>T (p.Val1323Leu)2318FLNCUncertain significance-1RCV002619473; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486357128486357NC_000007.13:g.128486357G>T-
NM_001458.5(FLNC):c.3968T>G (p.Val1323Gly)2318FLNCUncertain significance2128936843RCV001900671; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128486358128486358128486358-
NM_001458.5(FLNC):c.3972T>C (p.His1324=)2318FLNCLikely benign201922688RCV000538310|RCV002324027|RCV001591258; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MedGen:C36619007128486362128486362NC_000007.13:g.128486362T>CClinGen:CA4475215C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.3973C>T (p.Leu1325=)2318FLNCBenign34373805RCV000117073|RCV000711683|RCV001510685|RCV002354298; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN23073671284863631284863637:g.128486363C>TClinGen:CA152856CN169374 not specified;
NM_001458.5(FLNC):c.3982G>A (p.Val1328Ile)2318FLNCUncertain significance1585161584RCV000807510; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284863721284863727:g.128486372G>A-
NM_001458.5(FLNC):c.3987G>A (p.Leu1329=)2318FLNCLikely benign374299121RCV000609402|RCV000913266|RCV002377301; NMedGen:CN169374|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284863771284863777:g.128486377G>AClinGen:CA4475216CN169374 not specified;
NM_001458.5(FLNC):c.3999C>T (p.Val1333=)2318FLNCLikely benign1341936427RCV001498997; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128486389128486389128486389-
NM_001458.5(FLNC):c.4000G>A (p.Ala1334Thr)2318FLNCUncertain significance556477946RCV000531868|RCV002483474; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:61406571284863901284863907:g.128486390G>AClinGen:CA4475217C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4003G>A (p.Val1335Met)2318FLNCUncertain significance368220468RCV001041766|RCV002355003; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284863931284863937:g.128486393G>A-
NM_001458.5(FLNC):c.4009A>C (p.Lys1337Gln)2318FLNCUncertain significance1554399580RCV000594936|RCV001854084; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284863991284863997:g.128486399A>CClinGen:CA369198929CN169374 not specified;
NM_001458.5(FLNC):c.4016C>T (p.Pro1339Leu)2318FLNCUncertain significance1808566825RCV001914046; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128486406128486406128486406-
NM_001458.5(FLNC):c.4017C>A (p.Pro1339=)2318FLNCLikely benign2128936853RCV002000500; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128486407128486407128486407-
NM_001458.5(FLNC):c.4018T>A (p.Phe1340Ile)2318FLNCUncertain significance775383465RCV000544192|RCV003148783; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN51720271284864081284864087:g.128486408T>AClinGen:CA4475219C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4018T>G (p.Phe1340Val)2318FLNCUncertain significance775383465RCV000805604; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284864081284864087:g.128486408T>G-
NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter)2318FLNCPathogenic/Likely pathogenic1562998062RCV000760746|RCV001067745|RCV001809795|RCV002370018|RCV003166019; NMedGen:C3661900|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0014883,MedGen:C4317128486411128486411NC_000007.13:g.128486411C>T-
NM_001458.5(FLNC):c.4022G>A (p.Arg1341Gln)2318FLNCConflicting interpretations of pathogenicity149641783RCV000724874|RCV001084885|RCV001706129|RCV002354450|RCV003150047; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN169374|MedGen:CN23073671284864121284864127:g.128486412G>AClinGen:CA242315C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4023A>T (p.Arg1341=)2318FLNCLikely benign751884031RCV000878071|RCV001593119|RCV002354707; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN517202|MedGen:CN23073671284864131284864137:g.128486413A>T-
NM_001458.5(FLNC):c.4030G>A (p.Val1344Met)2318FLNCUncertain significance374127804RCV001210731|RCV002356900; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284864201284864207:g.128486420G>A-
NM_001458.5(FLNC):c.4035C>T (p.Thr1345=)2318FLNCLikely benign538733304RCV001460061|RCV003389743; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:C366190071284864251284864257:g.128486425C>T-
NM_001458.5(FLNC):c.4044T>C (p.Cys1348=)2318FLNCLikely benign1443334555RCV001488082; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN23931071284864341284864347:g.128486434T>C-
NM_001458.5(FLNC):c.4052C>T (p.Thr1351Ile)2318FLNCUncertain significance1585161671RCV000812998; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284864421284864427:g.128486442C>T-
NM_001458.5(FLNC):c.4053C>T (p.Thr1351=)2318FLNCLikely benign2128936870RCV001443868; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128486443128486443128486443-
NM_001458.5(FLNC):c.4054C>T (p.Arg1352Cys)2318FLNCConflicting interpretations of pathogenicity367931139RCV000556748|RCV001700151|RCV002324028; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN517202|MedGen:CN2307367128486444128486444NC_000007.13:g.128486444C>TClinGen:CA4475229C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4054C>A (p.Arg1352Ser)2318FLNCConflicting interpretations of pathogenicity-1RCV002321318|RCV003102511|RCV003443033; NMedGen:CN230736|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310|MedGen:C36619007128486444128486444128486444-
NM_001458.5(FLNC):c.4055G>A (p.Arg1352His)2318FLNCUncertain significance746731567RCV000799244|RCV001592983|RCV002477826; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MONDO:MONDO:0012289,MedGen:C18371284864451284864457:g.128486445G>A-
NM_001458.5(FLNC):c.4055G>T (p.Arg1352Leu)2318FLNCUncertain significance746731567RCV001300415|RCV002322197; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310|MedGen:CN2307367128486445128486445128486445-
NM_001458.5(FLNC):c.4055_4056delinsAT (p.Arg1352His)2318FLNCUncertain significance-1RCV002598882; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486445128486446NC_000007.13:g.128486445_128486446delinsAT-
NM_001458.5(FLNC):c.4056C>T (p.Arg1352=)2318FLNCBenign75770585RCV000117074|RCV000711684|RCV001517751|RCV002321594; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN23073671284864461284864467:g.128486446C>TClinGen:CA152859CN169374 not specified;
NM_001458.5(FLNC):c.4057G>A (p.Val1353Ile)2318FLNCUncertain significance1321855034RCV001068044|RCV003160559; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284864471284864477:g.128486447G>A-
NM_001458.5(FLNC):c.4059_4060del (p.Arg1354fs)2318FLNCPathogenic-1RCV002824251|RCV003308296; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310|MedGen:CN2307367128486449128486450NC_000007.13:g.128486449_128486450del-
NM_001458.5(FLNC):c.4060C>T (p.Arg1354Ter)2318FLNCPathogenic138193236RCV001241233|RCV002321562|RCV003229806; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|MedGen:CN51720271284864501284864507:g.128486450C>T-
NM_001458.5(FLNC):c.4060C>G (p.Arg1354Gly)2318FLNCUncertain significance138193236RCV000691278|RCV003144512; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN51720271284864501284864507:g.128486450C>G-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4061G>A (p.Arg1354Gln)2318FLNCConflicting interpretations of pathogenicity572132215RCV001045725|RCV001823753|RCV002320260; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN169374|MedGen:CN23073671284864511284864517:g.128486451G>A-
NM_001458.5(FLNC):c.4066T>G (p.Phe1356Val)2318FLNCUncertain significance1276975364RCV001299954; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128486456128486456128486456-
NM_001458.5(FLNC):c.4068C>T (p.Phe1356=)2318FLNCLikely benign745413025RCV000649241|RCV003352969; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN23073671284864581284864587:g.128486458C>TClinGen:CA4475232C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4069G>A (p.Gly1357Arg)2318FLNCUncertain significance1218299104RCV000810393|RCV001556052|RCV002325579; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN23073671284864591284864597:g.128486459G>A-
NM_001458.5(FLNC):c.4069G>T (p.Gly1357Trp)2318FLNCUncertain significance-1RCV003088251; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486459128486459NC_000007.13:g.128486459G>T-
NM_001458.5(FLNC):c.4073C>G (p.Pro1358Arg)2318FLNCConflicting interpretations of pathogenicity769586047RCV000649137|RCV002325299|RCV002485458; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MONDO:MONDO:0014883,MedGen:C43171284864631284864637:g.128486463C>GClinGen:CA4475233C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4092G>C (p.Leu1364Phe)2318FLNCConflicting interpretations of pathogenicity768635501RCV000544708|RCV001570876|RCV002324030; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN23073671284864821284864827:g.128486482G>CClinGen:CA4475236C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4092G>T (p.Leu1364Phe)2318FLNCUncertain significance768635501RCV002011544; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486482128486482128486482-
NM_001458.5(FLNC):c.4097A>G (p.Asn1366Ser)2318FLNCConflicting interpretations of pathogenicity185746835RCV000556971|RCV002324031|RCV001731770|RCV002470906; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MedGen:C3661900|EFO:EFO_000040771284864871284864877:g.128486487A>GClinGen:CA4475237C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4101G>A (p.Lys1367=)2318FLNCLikely benign-1RCV002999603; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486491128486491-
NM_001458.5(FLNC):c.4103C>T (p.Ala1368Val)2318FLNCUncertain significance896305338RCV001066408; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284864931284864937:g.128486493C>T-
NM_001458.5(FLNC):c.4105A>G (p.Asn1369Asp)2318FLNCUncertain significance-1RCV002814280; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486495128486495NC_000007.13:g.128486495A>G-
NM_001458.5(FLNC):c.4106A>G (p.Asn1369Ser)2318FLNCUncertain significance1554399615RCV000537720; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284864961284864967:g.128486496A>GClinGen:CA369199125C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4108C>T (p.Arg1370Ter)2318FLNCPathogenic1342121466RCV001044407|RCV002272394|RCV002320257; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:61704771284864981284864987:g.128486498C>T-
NM_001458.5(FLNC):c.4108C>G (p.Arg1370Gly)2318FLNCUncertain significance1342121466RCV001216293; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284864981284864987:g.128486498C>G-
NM_001458.5(FLNC):c.4109G>A (p.Arg1370Gln)2318FLNCConflicting interpretations of pathogenicity761881020RCV000788573|RCV001065013|RCV002325491; NMedGen:CN517202|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN23073671284864991284864997:g.128486499G>A-
NM_001458.5(FLNC):c.4111T>C (p.Phe1371Leu)2318FLNCUncertain significance-1RCV002303233; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128486501128486501128486501-
NM_001458.5(FLNC):c.4117G>A (p.Val1373Met)2318FLNCUncertain significance1159994552RCV001208993; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284865071284865077:g.128486507G>A-
NM_001458.5(FLNC):c.4120G>A (p.Glu1374Lys)2318FLNCUncertain significance-1RCV002294849; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128486510128486510128486510-
NM_001458.5(FLNC):c.4125C>T (p.Thr1375=)2318FLNCBenign/Likely benign191931963RCV000914321|RCV001683692|RCV002332876; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:C3661900|MedGen:CN23073671284865151284865157:g.128486515C>T-
NM_001458.5(FLNC):c.4127+1G>T2318FLNCPathogenic1346981294RCV000797177; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN23931071284865181284865187:g.128486518G>T-
NM_001458.5(FLNC):c.4127+5C>T2318FLNCUncertain significance2128936919RCV002048252; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128486522128486522128486522-
NM_001458.5(FLNC):c.4127+7T>C2318FLNCLikely benign1436165683RCV000960333; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284865241284865247:g.128486524T>C-
NM_001458.5(FLNC):c.4127+8C>T2318FLNCLikely benign2128936922RCV002152511; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128486525128486525128486525-
NM_001458.5(FLNC):c.4127+9C>T2318FLNCConflicting interpretations of pathogenicity368729011RCV000615274|RCV000649190|RCV003150302; NMedGen:CN169374|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|Human Phenotype Ontology:HP:00071284865261284865267:g.128486526C>TClinGen:CA4475242C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4127+11C>G2318FLNCLikely benign372563727RCV002128636; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128486528128486528128486528-
NM_001458.5(FLNC):c.4127+11C>A2318FLNCLikely benign-1RCV002848470; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486528128486528NC_000007.13:g.128486528C>A-
NM_001458.5(FLNC):c.4127+13T>G2318FLNCLikely benign-1RCV003017951; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486530128486530NC_000007.13:g.128486530T>G-
NM_001458.5(FLNC):c.4128-15G>A2318FLNCLikely benign-1RCV002852465; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486784128486784NC_000007.13:g.128486784G>A-
NM_001458.5(FLNC):c.4128-13T>A2318FLNCLikely benign2128937010RCV002204184; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486786128486786128486786-
NM_001458.5(FLNC):c.4128-11T>G2318FLNCUncertain significance-1RCV002637365; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486788128486788NC_000007.13:g.128486788T>G-
NM_001458.5(FLNC):c.4128-9A>C2318FLNCLikely benign2128937012RCV002204905; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486790128486790128486790-
NM_001458.5(FLNC):c.4128-2_4128-1del2318FLNCLikely pathogenic1808585056RCV001054013; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284867971284867987:g.128486797_128486798del-
NM_001458.5(FLNC):c.4128-1G>C2318FLNCLikely pathogenic-1RCV002918913; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486798128486798NC_000007.13:g.128486798G>C-
NM_001458.5(FLNC):c.4129G>A (p.Gly1377Arg)2318FLNCUncertain significance768725407RCV001767013|RCV002538796; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128486800128486800128486800-
NM_001458.5(FLNC):c.4130G>C (p.Gly1377Ala)2318FLNCUncertain significance-1RCV003055699; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486801128486801NC_000007.13:g.128486801G>C-
NM_001458.5(FLNC):c.4132G>A (p.Ala1378Thr)2318FLNCUncertain significance-1RCV003008020; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486803128486803NC_000007.13:g.128486803G>A-
NM_001458.5(FLNC):c.4133C>T (p.Ala1378Val)2318FLNCUncertain significance748008658RCV000403247|RCV001041037|RCV002328785|RCV003401261; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|71284868041284868047:g.128486804C>TClinGen:CA4475256CN169374 not specified;
NM_001458.5(FLNC):c.4134G>A (p.Ala1378=)2318FLNCLikely benign200942470RCV000998919|RCV001823751|RCV002068739|RCV002327227; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN23073671284868051284868057:g.128486805G>A-
NM_001458.5(FLNC):c.4140C>T (p.Thr1380=)2318FLNCBenign/Likely benign183668401RCV000711685|RCV002330939|RCV001078932|RCV001823736; NMedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN16937471284868111284868117:g.128486811C>TClinGen:CA4475259C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4141G>A (p.Gly1381Arg)2318FLNCUncertain significance766513255RCV000693205|RCV002332439; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128486812128486812NC_000007.13:g.128486812G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4141G>T (p.Gly1381Trp)2318FLNCUncertain significance766513255RCV001235088; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284868121284868127:g.128486812G>T-
NM_001458.5(FLNC):c.4142G>A (p.Gly1381Glu)2318FLNCUncertain significance2128937018RCV001957405; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486813128486813128486813-
NM_001458.5(FLNC):c.4143G>C (p.Gly1381=)2318FLNCLikely benign-1RCV003014933; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486814128486814-
NM_001458.5(FLNC):c.4145G>A (p.Gly1382Asp)2318FLNCUncertain significance1808586180RCV001215665; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284868161284868167:g.128486816G>A-
NM_001458.5(FLNC):c.4152C>A (p.Gly1384=)2318FLNCLikely benign2128937024RCV001491132; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128486823128486823128486823-
NM_001458.5(FLNC):c.4153C>T (p.Leu1385=)2318FLNCLikely benign202125701RCV000422452|RCV000649258|RCV001702479|RCV002328965; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN23073671284868241284868247:g.128486824C>TClinGen:CA4475264C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4159A>G (p.Ile1387Val)2318FLNCUncertain significance1032003580RCV000558629|RCV002330940; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284868301284868307:g.128486830A>GClinGen:CA166181881C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4159A>T (p.Ile1387Phe)2318FLNCConflicting interpretations of pathogenicity1032003580RCV001314725|RCV002329265; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128486830128486830128486830-
NM_001458.5(FLNC):c.4161C>T (p.Ile1387=)2318FLNCBenign/Likely benign200288149RCV000251468|RCV000534531|RCV002328742; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284868321284868327:g.128486832C>TClinGen:CA4475265C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4162G>A (p.Glu1388Lys)2318FLNCUncertain significance-1RCV003087026; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486833128486833NC_000007.13:g.128486833G>A-
NM_001458.5(FLNC):c.4170C>T (p.Pro1390=)2318FLNCLikely benign750156834RCV002035257; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128486841128486841128486841-
NM_001458.5(FLNC):c.4172C>T (p.Ser1391Leu)2318FLNCConflicting interpretations of pathogenicity755832014RCV001222620|RCV002562558|RCV003145417; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MeSH:D030342,MedGen:C0950123|MedGen:CN51720271284868431284868437:g.128486843C>T-
NM_001458.5(FLNC):c.4173G>A (p.Ser1391=)2318FLNCLikely benign201481324RCV001587410|RCV002329491|RCV001439441; NMedGen:C3661900|MedGen:CN230736|MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128486844128486844128486844-
NM_001458.5(FLNC):c.4179C>G (p.Ala1393=)2318FLNCLikely benign1304554131RCV001460209; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128486850128486850128486850-
NM_001458.5(FLNC):c.4180A>G (p.Lys1394Glu)2318FLNCUncertain significance1430761286RCV002006730|RCV002331613|RCV003146478; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MedGen:C36619007128486851128486851128486851-
NM_001458.5(FLNC):c.4181A>C (p.Lys1394Thr)2318FLNCUncertain significance-1RCV003072735; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486852128486852NC_000007.13:g.128486852A>C-
NM_001458.5(FLNC):c.4184T>A (p.Met1395Lys)2318FLNCUncertain significance1372801269RCV000814911; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284868551284868557:g.128486855T>A-
NM_001458.5(FLNC):c.4185G>A (p.Met1395Ile)2318FLNCUncertain significance2128937035RCV001990676; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128486856128486856128486856-
NM_001458.5(FLNC):c.4188C>A (p.Ser1396=)2318FLNCLikely benign-1RCV003003156; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486859128486859-
NM_001458.5(FLNC):c.4192A>T (p.Lys1398Ter)2318FLNCPathogenic-1RCV002671801; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486863128486863NC_000007.13:g.128486863A>T-
NM_001458.5(FLNC):c.4197CAA[1] (p.Asn1400del)2318FLNCUncertain significance1167620763RCV002016231; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128486867128486869128486866-
NM_001458.5(FLNC):c.4202A>C (p.Lys1401Thr)2318FLNCUncertain significance1808588600RCV001318919; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486873128486873128486873-
NM_001458.5(FLNC):c.4202A>G (p.Lys1401Arg)2318FLNCUncertain significance1808588600RCV002029109; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128486873128486873128486873-
NM_001458.5(FLNC):c.4218C>T (p.Thr1406=)2318FLNCLikely benign748827721RCV000649207|RCV002331239; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284868891284868897:g.128486889C>TClinGen:CA4475270C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4219G>A (p.Val1407Met)2318FLNCUncertain significance375366821RCV000692406|RCV001756186|RCV002332434; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN517202|MedGen:CN2307367128486890128486890NC_000007.13:g.128486890G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4222G>A (p.Glu1408Lys)2318FLNCUncertain significance965589915RCV001061544|RCV001288180|RCV002327335; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN517202|MedGen:CN23073671284868931284868937:g.128486893G>A-
NM_001458.5(FLNC):c.4224G>T (p.Glu1408Asp)2318FLNCUncertain significance-1RCV002303346; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128486895128486895128486895-
NM_001458.5(FLNC):c.4229T>A (p.Ile1410Asn)2318FLNCUncertain significance778951900RCV000698670|RCV002332471|RCV003225114; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|MedGen:CN5172027128486900128486900NC_000007.13:g.128486900T>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4230C>T (p.Ile1410=)2318FLNCLikely benign-1RCV002653480|RCV003289585; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128486901128486901-
NM_001458.5(FLNC):c.4233C>T (p.Pro1411=)2318FLNCLikely benign2128937047RCV002160768; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128486904128486904128486904-
NM_001458.5(FLNC):c.4254C>T (p.Asp1418=)2318FLNCLikely benign773306584RCV001438584|RCV002329489; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128486925128486925128486925-
NM_001458.5(FLNC):c.4255G>A (p.Val1419Ile)2318FLNCUncertain significance1432229476RCV001295860; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128486926128486926128486926-
NM_001458.5(FLNC):c.4256T>C (p.Val1419Ala)2318FLNCUncertain significance2128937054RCV001981042; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128486927128486927128486927-
NM_001458.5(FLNC):c.4260C>T (p.Asn1420=)2318FLNCLikely benign-1RCV002585491; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486931128486931-
NM_001458.5(FLNC):c.4269C>T (p.Phe1423=)2318FLNCLikely benign781089974RCV001493452|RCV002332860|RCV003432882; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|MedGen:C366190071284869401284869407:g.128486940C>T-
NM_001458.5(FLNC):c.4275dup (p.Arg1426fs)2318FLNCPathogenic756985550RCV001388852; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128486940128486941128486940-
NM_001458.5(FLNC):c.4270G>A (p.Gly1424Arg)2318FLNCUncertain significance1202331272RCV000649126; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284869411284869417:g.128486941G>AClinGen:CA369200936C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4272G>C (p.Gly1424=)2318FLNCLikely benign-1RCV002330045|RCV003094616; NMedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128486943128486943-
NM_001458.5(FLNC):c.4276C>T (p.Arg1426Trp)2318FLNCUncertain significance-1RCV002330067|RCV003102554|RCV003403792; NMedGen:CN230736|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310|7128486947128486947128486947-
NM_001458.5(FLNC):c.4277G>C (p.Arg1426Pro)2318FLNCUncertain significance764452839RCV001946484; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128486948128486948128486948-
NM_001458.5(FLNC):c.4280C>T (p.Pro1427Leu)2318FLNCUncertain significance1192906461RCV001204364|RCV003246749; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MeSH:D030342,MedGen:C095012371284869511284869517:g.128486951C>T-
NM_001458.5(FLNC):c.4287A>C (p.Pro1429=)2318FLNCUncertain significance1808591761RCV001218581; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284869581284869587:g.128486958A>C-
NM_001458.5(FLNC):c.4288+1G>A2318FLNCLikely pathogenic2128937065RCV002050926; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128486960128486960128486960-
NM_001458.5(FLNC):c.4288+3G>A2318FLNCUncertain significance1199950013RCV001898472; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128486962128486962128486962-
NM_001458.5(FLNC):c.4288+7AG[3]2318FLNCBenign780733285RCV002127257; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128486966128486967128486965-
NM_001458.5(FLNC):c.4288+19C>T2318FLNCLikely benign-1RCV003115550; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128486978128486978NC_000007.13:g.128486978C>T-
NM_001458.5(FLNC):c.4288+20G>A2318FLNCLikely benign-1RCV003090500; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128486979128486979NC_000007.13:g.128486979G>A-
NC_000007.13:g.(?_128487731)_(128488142_?)del2318FLNCPathogenic-1RCV001946604; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128487731128488142-1-
NM_001458.5(FLNC):c.4289-18A>C2318FLNCLikely benign-1RCV002890073; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128487733128487733NC_000007.13:g.128487733A>C-
NM_001458.5(FLNC):c.4289-16G>A2318FLNCLikely benign-1RCV003037833; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128487735128487735NC_000007.13:g.128487735G>A-
NM_001458.5(FLNC):c.4289-7_4289-5del2318FLNCLikely benign1286999803RCV000649202; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284877411284877437:g.128487741_128487743delClinGen:CA578150551C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4289-5C>T2318FLNCConflicting interpretations of pathogenicity-1RCV002330175|RCV003102557; NMedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128487746128487746128487746-
NM_001458.5(FLNC):c.4289-4A>C2318FLNCBenign140031589RCV000551693|RCV000407361|RCV002328778; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN169374|MedGen:CN23073671284877471284877477:g.128487747A>CClinGen:CA4475304C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4293C>T (p.Ser1431=)2318FLNCLikely benign376429779RCV001467998|RCV003160897; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128487755128487755128487755-
NM_001458.5(FLNC):c.4293C>A (p.Ser1431Arg)2318FLNCUncertain significance-1RCV002580003; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128487755128487755NC_000007.13:g.128487755C>A-
NM_001458.5(FLNC):c.4295C>T (p.Pro1432Leu)2318FLNCUncertain significance1427806742RCV001884367; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128487757128487757128487757-
NM_001458.5(FLNC):c.4296G>A (p.Pro1432=)2318FLNCLikely benign370827536RCV000416169|RCV001088732|RCV002328904; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284877581284877587:g.128487758G>AClinGen:CA4475306C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4298T>A (p.Phe1433Tyr)2318FLNCUncertain significance2128937234RCV002029124; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128487760128487760128487760-
NM_001458.5(FLNC):c.4299C>T (p.Phe1433=)2318FLNCBenign/Likely benign-1RCV002330254|RCV003102563; NMedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128487761128487761-
NM_001458.5(FLNC):c.4300C>T (p.Arg1434Cys)2318FLNCConflicting interpretations of pathogenicity536331212RCV000820348|RCV002251521|RCV002332701; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN23073671284877621284877627:g.128487762C>T-
NM_001458.5(FLNC):c.4301G>T (p.Arg1434Leu)2318FLNCConflicting interpretations of pathogenicity143623535RCV000498731|RCV001086180|RCV002329185; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284877631284877637:g.128487763G>TClinGen:CA4475310C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4301G>A (p.Arg1434His)2318FLNCConflicting interpretations of pathogenicity143623535RCV000539559|RCV000734411|RCV002329238|RCV002497017; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:00171284877631284877637:g.128487763G>AClinGen:CA4475309C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4302C>T (p.Arg1434=)2318FLNCBenign114697352RCV000422534|RCV000711686|RCV001080257|RCV002328991; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN23073671284877641284877647:g.128487764C>TClinGen:CA4475311C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4303G>A (p.Val1435Met)2318FLNCConflicting interpretations of pathogenicity370643162RCV000540920|RCV002330941; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128487765128487765NC_000007.13:g.128487765G>AClinGen:CA4475312C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4309G>T (p.Val1437Leu)2318FLNCUncertain significance1445187487RCV001976770; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128487771128487771128487771-
NM_001458.5(FLNC):c.4310T>C (p.Val1437Ala)2318FLNCUncertain significance754170282RCV000649157|RCV001771895|RCV003362878; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN517202|MedGen:CN23073671284877721284877727:g.128487772T>CClinGen:CA166182932C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4315G>A (p.Asp1439Asn)2318FLNCUncertain significance1562998835RCV000686708; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128487777128487777NC_000007.13:g.128487777G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4321del (p.Val1441fs)2318FLNCPathogenic-1RCV002700133; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128487782128487782NC_000007.13:g.128487783del-
NM_001458.5(FLNC):c.4323G>A (p.Val1441=)2318FLNCBenign-1RCV002676377; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128487785128487785-
NM_001458.5(FLNC):c.4324G>A (p.Asp1442Asn)2318FLNCUncertain significance-1RCV002993654; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128487786128487786NC_000007.13:g.128487786G>A-
NM_001458.5(FLNC):c.4326C>A (p.Asp1442Glu)2318FLNCUncertain significance1458536220RCV001043901; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284877881284877887:g.128487788C>A-
NM_001458.5(FLNC):c.4329T>C (p.Pro1443=)2318FLNCLikely benign1183819162RCV001441148; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128487791128487791128487791-
NM_001458.5(FLNC):c.4333_4336del (p.Gly1444_Lys1445insTer)2318FLNCPathogenic1562998858RCV000693137; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128487793128487796NC_000007.13:g.128487795_128487798del-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4331G>C (p.Gly1444Ala)2318FLNCLikely benign-1RCV003053179; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128487793128487793NC_000007.13:g.128487793G>C-
NM_001458.5(FLNC):c.4334A>G (p.Lys1445Arg)2318FLNCLikely benign371591881RCV000696646|RCV001555285|RCV002332460; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN23073671284877961284877967:g.128487796A>G-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4342T>C (p.Cys1448Arg)2318FLNCUncertain significance976487545RCV001338357; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128487804128487804128487804-
NM_001458.5(FLNC):c.4350G>A (p.Gly1450=)2318FLNCLikely benign769921610RCV001506670; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128487812128487812128487812-
NM_001458.5(FLNC):c.4352C>G (p.Pro1451Arg)2318FLNCUncertain significance-1RCV002680800; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128487814128487814NC_000007.13:g.128487814C>G-
NM_001458.5(FLNC):c.4356G>C (p.Gly1452=)2318FLNCLikely benign2128937254RCV002206480; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128487818128487818128487818-
NM_001458.5(FLNC):c.4363_4375dup (p.Ala1459fs)2318FLNCPathogenic-1RCV002842880; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128487821128487822NC_000007.13:g.128487825_128487837dup-
NM_001458.5(FLNC):c.4367G>C (p.Gly1456Ala)2318FLNCConflicting interpretations of pathogenicity775049569RCV000704195|RCV002332499|RCV002507233|RCV003144564|RCV003420256; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MONDO:MONDO:0012289,MedGen:C1837128487829128487829NC_000007.13:g.128487829G>C-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4372A>G (p.Arg1458Gly)2318FLNCUncertain significance762257502RCV000697125|RCV001756214; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN51720271284878341284878347:g.128487834A>G-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4374G>A (p.Arg1458=)2318FLNCLikely benign1305563889RCV000649251|RCV002331240; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284878361284878367:g.128487836G>AClinGen:CA457848539C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4378C>T (p.Arg1460Trp)2318FLNCConflicting interpretations of pathogenicity376265227RCV001055020|RCV002327317|RCV003145304; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MedGen:CN51720271284878401284878407:g.128487840C>T-
NM_001458.5(FLNC):c.4378C>G (p.Arg1460Gly)2318FLNCUncertain significance-1RCV002765882; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128487840128487840NC_000007.13:g.128487840C>G-
NM_001458.5(FLNC):c.4379G>A (p.Arg1460Gln)2318FLNCConflicting interpretations of pathogenicity773716930RCV002039042|RCV002331649; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128487841128487841128487841-
NM_001458.5(FLNC):c.4380G>T (p.Arg1460=)2318FLNCLikely benign1005510680RCV001479185|RCV003160939; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128487842128487842128487842-
NM_001458.5(FLNC):c.4387C>G (p.Gln1463Glu)2318FLNCUncertain significance1808623920RCV001943981; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128487849128487849128487849-
NM_001458.5(FLNC):c.4402G>A (p.Asp1468Asn)2318FLNCUncertain significance-1RCV002570184; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128487864128487864NC_000007.13:g.128487864G>A-
NM_001458.5(FLNC):c.4404T>C (p.Asp1468=)2318FLNCBenign2249128RCV000221141|RCV001520069; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284878661284878667:g.128487866T>CClinGen:CA4475325CN169374 not specified;
NM_001458.5(FLNC):c.4404= (p.Asp1468=)2318FLNCBenign2249128RCV000528055; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284878661284878667:g.128487866T>.ClinGen:CA658657721C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4413A>T (p.Gln1471His)2318FLNCUncertain significance765435961RCV000649185|RCV001823742|RCV002331238|RCV003319390; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN169374|MedGen:CN230736|MedGen:CN5172027128487875128487875NC_000007.13:g.128487875A>TClinGen:CA4475326C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4415C>T (p.Ala1472Val)2318FLNCUncertain significance-1RCV002333848|RCV003094688; NMedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128487877128487877128487877-
NM_001458.5(FLNC):c.4420C>T (p.Arg1474Trp)2318FLNCConflicting interpretations of pathogenicity372454458RCV000522249|RCV000705455|RCV002329244; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284878821284878827:g.128487882C>TClinGen:CA4475327C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4421G>A (p.Arg1474Gln)2318FLNCUncertain significance376380652RCV001046304; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284878831284878837:g.128487883G>A-
NM_001458.5(FLNC):c.4423G>T (p.Ala1475Ser)2318FLNCUncertain significance982026083RCV001983428; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128487885128487885128487885-
NM_001458.5(FLNC):c.4424C>T (p.Ala1475Val)2318FLNCConflicting interpretations of pathogenicity369305865RCV000553323|RCV002330942; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128487886128487886NC_000007.13:g.128487886C>TClinGen:CA4475329C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4425G>A (p.Ala1475=)2318FLNCBenign/Likely benign371971762RCV000711687|RCV001085701|RCV002332520; NMedGen:CN517202|MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128487887128487887NC_000007.13:g.128487887G>A-
NM_001458.5(FLNC):c.4431G>A (p.Leu1477=)2318FLNCBenign2291568RCV000117075|RCV000711688|RCV001520070|RCV002326813; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN23073671284878931284878937:g.128487893G>AClinGen:CA152862CN169374 not specified;
NM_001458.5(FLNC):c.4432C>T (p.Gln1478Ter)2318FLNCPathogenic2128937285RCV001380194; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128487894128487894128487894-
NM_001458.5(FLNC):c.4435G>C (p.Val1479Leu)2318FLNCUncertain significance-1RCV003002948; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128487897128487897NC_000007.13:g.128487897G>C-
NM_001458.5(FLNC):c.4445T>C (p.Leu1482Pro)2318FLNCUncertain significance-1RCV002820781; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128487907128487907NC_000007.13:g.128487907T>C-
NM_001458.5(FLNC):c.4456+13C>T2318FLNCBenign/Likely benign200456962RCV000437588|RCV002062601; NMedGen:CN169374|MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284879311284879317:g.128487931C>TClinGen:CA4475334CN169374 not specified;
NM_001458.5(FLNC):c.4456+14G>A2318FLNCBenign/Likely benign375227447RCV000607186|RCV002063065; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284879321284879327:g.128487932G>AClinGen:CA4475335CN169374 not specified;
NM_001458.5(FLNC):c.4456+15G>A2318FLNCLikely benign-1RCV002806971; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128487933128487933NC_000007.13:g.128487933G>A-
NM_001458.5(FLNC):c.4456+16G>A2318FLNCBenign543476754RCV001573825|RCV001701201|RCV002072245; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128487934128487934128487934-
NM_001458.5(FLNC):c.4456+17G>T2318FLNCLikely benign-1RCV002745848; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128487935128487935NC_000007.13:g.128487935G>T-
NM_001458.5(FLNC):c.4457-19C>G2318FLNCBenign/Likely benign369731117RCV000613181|RCV002063066; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284879801284879807:g.128487980C>GClinGen:CA4475346CN169374 not specified;
NM_001458.5(FLNC):c.4457-19C>A2318FLNCLikely benign369731117RCV002087399; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128487980128487980128487980-
NM_001458.5(FLNC):c.4457-8T>C2318FLNCLikely benign2128937313RCV002114817; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128487991128487991128487991-
NM_001458.5(FLNC):c.4457-4C>T2318FLNCLikely benign2128937315RCV002088646; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128487995128487995128487995-
NM_001458.5(FLNC):c.4457-1G>A2318FLNCLikely pathogenic1404524040RCV001971152; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128487998128487998128487998-
NM_001458.5(FLNC):c.4457G>T (p.Gly1486Val)2318FLNCUncertain significance767473791RCV002026172; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128487999128487999128487999-
NM_001458.5(FLNC):c.4459G>A (p.Val1487Met)2318FLNCLikely benign750186463RCV000945474|RCV002332943; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284880011284880017:g.128488001G>A-
NM_001458.5(FLNC):c.4464C>T (p.Ala1488=)2318FLNCLikely benign755909576RCV001498983; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128488006128488006128488006-
NM_001458.5(FLNC):c.4464C>G (p.Ala1488=)2318FLNCLikely benign-1RCV002866693; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128488006128488006-
NM_001458.5(FLNC):c.4465G>A (p.Glu1489Lys)2318FLNCUncertain significance766612482RCV001952137; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128488007128488007128488007-
NM_001458.5(FLNC):c.4467G>A (p.Glu1489=)2318FLNCLikely benign1808631322RCV001425357; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128488009128488009128488009-
NM_001458.5(FLNC):c.4468C>T (p.Pro1490Ser)2318FLNCLikely benign754076573RCV001320367; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128488010128488010128488010-
NM_001458.5(FLNC):c.4471G>A (p.Val1491Met)2318FLNCUncertain significance186904046RCV001051766|RCV002471020|RCV003283906; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:61704771284880131284880137:g.128488013G>A-
NM_001458.5(FLNC):c.4474G>A (p.Glu1492Lys)2318FLNCUncertain significance71581926RCV000695976|RCV002477579|RCV002532341; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:6140657128488016128488016NC_000007.13:g.128488016G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4475A>C (p.Glu1492Ala)2318FLNCUncertain significance-1RCV002298289; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128488017128488017128488017-
NM_001458.5(FLNC):c.4479G>A (p.Val1493=)2318FLNCLikely benign756021559RCV001430921; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284880211284880217:g.128488021G>A-
NM_001458.5(FLNC):c.4480C>T (p.Arg1494Trp)2318FLNCConflicting interpretations of pathogenicity779079128RCV000529464|RCV000714608|RCV000714609|RCV002330943|RCV003144354; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:60952471284880221284880227:g.128488022C>TClinGen:CA4475355C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4481G>A (p.Arg1494Gln)2318FLNCUncertain significance1241325618RCV000813558; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284880231284880237:g.128488023G>A-
NM_001458.5(FLNC):c.4483G>A (p.Asp1495Asn)2318FLNCUncertain significance748265400RCV001309192; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128488025128488025128488025-
NM_001458.5(FLNC):c.4485C>T (p.Asp1495=)2318FLNCLikely benign373198674RCV001477658; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128488027128488027128488027-
NM_001458.5(FLNC):c.4487A>G (p.Asn1496Ser)2318FLNCUncertain significance-1RCV002694977; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128488029128488029NC_000007.13:g.128488029A>G-
NM_001458.5(FLNC):c.4488T>C (p.Asn1496=)2318FLNCConflicting interpretations of pathogenicity377258966RCV000592821|RCV001086237|RCV001701097|RCV002331022; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN169374|MedGen:CN23073671284880301284880307:g.128488030T>CClinGen:CA4475359CN169374 not specified;
NM_001458.5(FLNC):c.4497C>T (p.Gly1499=)2318FLNCUncertain significance1808633213RCV001042511; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284880391284880397:g.128488039C>T-
NM_001458.5(FLNC):c.4505C>T (p.Thr1502Ile)2318FLNCLikely benign-1RCV003076812; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128488047128488047NC_000007.13:g.128488047C>T-
NM_001458.5(FLNC):c.4507G>A (p.Val1503Ile)2318FLNCUncertain significance-1RCV003078802|RCV003377872; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128488049128488049NC_000007.13:g.128488049G>A-
NM_001458.5(FLNC):c.4512C>T (p.His1504=)2318FLNCLikely benign370528183RCV001465896|RCV002342045; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128488054128488054128488054-
NM_001458.5(FLNC):c.4513T>C (p.Tyr1505His)2318FLNCConflicting interpretations of pathogenicity761352737RCV001208838|RCV002339535; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284880551284880557:g.128488055T>C-
NM_001458.5(FLNC):c.4516A>G (p.Thr1506Ala)2318FLNCUncertain significance771974318RCV001920869|RCV002334884; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128488058128488058128488058-
NM_001458.5(FLNC):c.4517C>G (p.Thr1506Ser)2318FLNCUncertain significance1808634430RCV001309128|RCV002341620|RCV003314684; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MedGen:CN5172027128488059128488059128488059-
NM_001458.5(FLNC):c.4519C>A (p.Pro1507Thr)2318FLNCUncertain significance-1RCV002286941|RCV003097707; NMedGen:CN517202|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128488061128488061128488061-
NM_001458.5(FLNC):c.4525A>G (p.Thr1509Ala)2318FLNCLikely benign-1RCV002603769; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128488067128488067NC_000007.13:g.128488067A>G-
NM_001458.5(FLNC):c.4530C>T (p.Asp1510=)2318FLNCLikely benign565243603RCV002220225; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128488072128488072128488072-
NM_001458.5(FLNC):c.4531G>A (p.Gly1511Arg)2318FLNCUncertain significance1445118718RCV001966868; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128488073128488073128488073-
NM_001458.5(FLNC):c.4536C>T (p.Pro1512=)2318FLNCLikely benign-1RCV002949485; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128488078128488078-
NM_001458.5(FLNC):c.4539C>T (p.Tyr1513=)2318FLNCLikely benign759632987RCV001443716; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128488081128488081128488081-
NM_001458.5(FLNC):c.4541C>T (p.Thr1514Met)2318FLNCUncertain significance1159701068RCV001071297; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284880831284880837:g.128488083C>T-
NM_001458.5(FLNC):c.4542G>A (p.Thr1514=)2318FLNCLikely benign-1RCV003075341|RCV003427561; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:C36619007128488084128488084-
NM_001458.5(FLNC):c.4548C>T (p.Ala1516=)2318FLNCLikely benign376441465RCV001426458|RCV002341922; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128488090128488090128488090-
NM_001458.5(FLNC):c.4549G>A (p.Val1517Ile)2318FLNCUncertain significance532654321RCV000649062|RCV002334176; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284880911284880917:g.128488091G>AClinGen:CA4475374C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4550T>C (p.Val1517Ala)2318FLNCUncertain significance-1RCV002610891; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128488092128488092NC_000007.13:g.128488092T>C-
NM_001458.5(FLNC):c.4552A>C (p.Lys1518Gln)2318FLNCUncertain significance778417108RCV001994416; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128488094128488094128488094-
NM_001458.5(FLNC):c.4553A>G (p.Lys1518Arg)2318FLNCConflicting interpretations of pathogenicity201635205RCV000176640|RCV001088530|RCV002326965|RCV003150050|RCV003224192; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|Human Phenotype71284880951284880957:g.128488095A>GClinGen:CA242668C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4556A>G (p.Tyr1519Cys)2318FLNCUncertain significance1012086057RCV000818350|RCV001664435|RCV002336696; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN23073671284880981284880987:g.128488098A>G-
NM_001458.5(FLNC):c.4557T>A (p.Tyr1519Ter)2318FLNCPathogenic2128937364RCV001389885; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128488099128488099128488099-
NM_001458.5(FLNC):c.4560T>C (p.Ala1520=)2318FLNCLikely benign2128937366RCV002076749; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128488102128488102128488102-
NM_001458.5(FLNC):c.4564del (p.Gln1522fs)2318FLNCPathogenic2128937368RCV001999805; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128488105128488105128488104-
NM_001458.5(FLNC):c.4564C>T (p.Gln1522Ter)2318FLNCPathogenic-1RCV003021321; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128488106128488106NC_000007.13:g.128488106C>T-
NM_001458.5(FLNC):c.4565A>G (p.Gln1522Arg)2318FLNCConflicting interpretations of pathogenicity1022106059RCV000553801|RCV002341414; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128488107128488107NC_000007.13:g.128488107A>GClinGen:CA166183552C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4566G>T (p.Gln1522His)2318FLNCUncertain significance559667295RCV000577934|RCV000578011|RCV000578090|RCV000578070|RCV000577958|RCV001308487; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|Human Phenotype Ontology:HP:0001639,MONDO:MONDO:0005045,MeSH:D002312,MedGen:C0007194, Orphanet:217569|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|EFO:EFO_0000407,Human Phe7128488108128488108NC_000007.13:g.128488108G>TClinGen:CA4475377C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4570G>A (p.Val1524Met)2318FLNCUncertain significance1358403336RCV000649087; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128488112128488112NC_000007.13:g.128488112G>AClinGen:CA369202036C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4572G>A (p.Val1524=)2318FLNCLikely benign1808638682RCV002217355; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128488114128488114128488114-
NM_001458.5(FLNC):c.4575A>G (p.Pro1525=)2318FLNCLikely benign-1RCV003043780; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128488117128488117-
NM_001458.5(FLNC):c.4576C>T (p.Arg1526Cys)2318FLNCUncertain significance746275035RCV000320796|RCV000798015|RCV001823722; NMedGen:CN517202|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN16937471284881181284881187:g.128488118C>TClinGen:CA4475378CN169374 not specified;
NM_001458.5(FLNC):c.4576C>G (p.Arg1526Gly)2318FLNCUncertain significance746275035RCV001038744|RCV001528363; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN51720271284881181284881187:g.128488118C>G-
NM_001458.5(FLNC):c.4577G>A (p.Arg1526His)2318FLNCUncertain significance374729872RCV001202879|RCV002339506|RCV003145372; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|MedGen:CN51720271284881191284881197:g.128488119G>A-
NM_001458.5(FLNC):c.4578C>A (p.Arg1526=)2318FLNCLikely benign-1RCV002596227; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128488120128488120-
NM_001458.5(FLNC):c.4579A>G (p.Ser1527Gly)2318FLNCUncertain significance747642919RCV000529681; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284881211284881217:g.128488121A>GClinGen:CA4475381C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4580+1G>A2318FLNCLikely pathogenic-1RCV003039300; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128488123128488123NC_000007.13:g.128488123G>A-
NM_001458.5(FLNC):c.4580+12C>A2318FLNCLikely benign-1RCV002871840; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128488134128488134NC_000007.13:g.128488134C>A-
NM_001458.5(FLNC):c.4580+20T>C2318FLNCLikely benign-1RCV002790115; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128488142128488142NC_000007.13:g.128488142T>C-
NM_001458.5(FLNC):c.4581-12C>T2318FLNCLikely benign781742167RCV000602751|RCV002529627; NMedGen:CN169374|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284886031284886037:g.128488603C>TClinGen:CA4475395CN169374 not specified;
NM_001458.5(FLNC):c.4581-10_4581-8del2318FLNCLikely benign2128937515RCV002164516; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128488603128488605128488602-
NC_000007.14:g.(?_128848551)_(128848992_?)del2318FLNCPathogenic-1RCV001031450; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128488605128489046-1-
NM_001458.5(FLNC):c.4581-10G>A2318FLNCLikely benign2128937516RCV001393599; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128488605128488605128488605-
NM_001458.5(FLNC):c.4581-10G>C2318FLNCLikely benign-1RCV003020699; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128488605128488605NC_000007.13:g.128488605G>C-
NM_001458.5(FLNC):c.4581-6C>T2318FLNCLikely benign-1RCV003110654; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128488609128488609NC_000007.13:g.128488609C>T-
NM_001458.5(FLNC):c.4581-5T>A2318FLNCBenign/Likely benign368660628RCV000599018|RCV001080589|RCV002341415|RCV002506361; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MONDO:MONDO:00171284886101284886107:g.128488610T>AClinGen:CA4475396C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4581C>A (p.Ser1527Arg)2318FLNCUncertain significance2128937518RCV001877967; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128488615128488615128488615-
NM_001458.5(FLNC):c.4589A>G (p.Lys1530Arg)2318FLNCUncertain significance756526090RCV000517179|RCV000699163; NMedGen:CN169374|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284886231284886237:g.128488623A>GClinGen:CA4475397C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4590G>T (p.Lys1530Asn)2318FLNCUncertain significance778534100RCV000811083|RCV002336668|RCV003145166; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MedGen:CN51720271284886241284886247:g.128488624G>T-
NM_001458.5(FLNC):c.4593C>G (p.Ile1531Met)2318FLNCUncertain significance371988433RCV000649178; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284886271284886277:g.128488627C>GClinGen:CA4475399C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4597G>A (p.Val1533Ile)2318FLNCUncertain significance1554399973RCV000649076; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284886311284886317:g.128488631G>AClinGen:CA369202105C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4604C>A (p.Pro1535Gln)2318FLNCUncertain significance-1RCV002597593; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128488638128488638NC_000007.13:g.128488638C>A-
NM_001458.5(FLNC):c.4605A>G (p.Pro1535=)2318FLNCLikely benign1017137913RCV001466111; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128488639128488639128488639-
NM_001458.5(FLNC):c.4607C>T (p.Ala1536Val)2318FLNCUncertain significance1808665032RCV001204359; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284886411284886417:g.128488641C>T-
NM_001458.5(FLNC):c.4611T>C (p.His1537=)2318FLNCLikely benign376222096RCV000930951|RCV002336931; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284886451284886457:g.128488645T>C-
NM_001458.5(FLNC):c.4614T>C (p.Asp1538=)2318FLNCLikely benign746563597RCV001424042|RCV001664873|RCV002341918; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN2307367128488648128488648128488648-
NM_001458.5(FLNC):c.4615G>A (p.Ala1539Thr)2318FLNCPathogenic1562999443RCV000239536|RCV001854932; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:6170477128488649128488649NC_000007.13:g.128488649G>AOMIM:102565.0005
NM_001458.5(FLNC):c.4616C>T (p.Ala1539Val)2318FLNCUncertain significance770746660RCV000818418; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284886501284886507:g.128488650C>T-
NM_001458.5(FLNC):c.4621A>T (p.Lys1541Ter)2318FLNCPathogenic/Likely pathogenic1562999451RCV000700794|RCV002332477|RCV003442044; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MedGen:C366190071284886551284886557:g.128488655A>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4621A>G (p.Lys1541Glu)2318FLNCUncertain significance-1RCV003062984; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128488655128488655NC_000007.13:g.128488655A>G-
NM_001458.5(FLNC):c.4626G>A (p.Val1542=)2318FLNCConflicting interpretations of pathogenicity776682674RCV001820704|RCV002074347; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128488660128488660128488660-
NM_001458.5(FLNC):c.4627C>T (p.Arg1543Trp)2318FLNCUncertain significance745648230RCV000531313|RCV000788621|RCV002330945; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN23073671284886611284886617:g.128488661C>TClinGen:CA4475405C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4628G>A (p.Arg1543Gln)2318FLNCConflicting interpretations of pathogenicity369178040RCV000802879|RCV002336616|RCV003144623; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MedGen:C366190071284886621284886627:g.128488662G>A-
NM_001458.5(FLNC):c.4632C>G (p.Ala1544=)2318FLNCLikely benign-1RCV002823756; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128488666128488666-
NM_001458.5(FLNC):c.4634G>T (p.Ser1545Ile)2318FLNCUncertain significance2128937535RCV002033764; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128488668128488668128488668-
NM_001458.5(FLNC):c.4635C>T (p.Ser1545=)2318FLNCLikely benign371367894RCV001415692|RCV003298692; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128488669128488669128488669-
NM_001458.5(FLNC):c.4636G>A (p.Gly1546Ser)2318FLNCPathogenic/Likely pathogenic774263134RCV000543625|RCV000786137|RCV002272284; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:C3661900|MONDO:MONDO:0014883,MedGen:C43171284886701284886707:g.128488670G>AClinGen:CA4475410C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4636G>T (p.Gly1546Cys)2318FLNCUncertain significance774263134RCV001944842; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128488670128488670128488670-
NM_001458.5(FLNC):c.4637G>A (p.Gly1546Asp)2318FLNCLikely pathogenic1427917546RCV002037367; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128488671128488671128488671-
NM_001458.5(FLNC):c.4639C>T (p.Pro1547Ser)2318FLNCUncertain significance2128937538RCV001914486; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128488673128488673128488673-
NM_001458.5(FLNC):c.4644C>A (p.Gly1548=)2318FLNCLikely benign762001332RCV001458018; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128488678128488678128488678-
NM_001458.5(FLNC):c.4645C>T (p.Leu1549Phe)2318FLNCUncertain significance2128937539RCV001989091; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128488679128488679128488679-
NM_001458.5(FLNC):c.4650C>T (p.Asn1550=)2318FLNCLikely benign547733871RCV001411377|RCV002329444|RCV002504686; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3277128488684128488684128488684-
NM_001458.5(FLNC):c.4651G>A (p.Ala1551Thr)2318FLNCConflicting interpretations of pathogenicity565918031RCV000649169|RCV001574184|RCV002331237; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|MedGen:CN2307367128488685128488685NC_000007.13:g.128488685G>AClinGen:CA4475414C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4653C>T (p.Ala1551=)2318FLNCLikely benign939470112RCV002188070; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128488687128488687128488687-
NM_001458.5(FLNC):c.4660A>C (p.Ile1554Leu)2318FLNCUncertain significance754224673RCV000649104|RCV001766402|RCV002331235; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN517202|MedGen:CN23073671284886941284886947:g.128488694A>CClinGen:CA4475416C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4661T>C (p.Ile1554Thr)2318FLNCUncertain significance777526166RCV001918844|RCV002334874; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128488695128488695128488695-
NM_001458.5(FLNC):c.4662C>T (p.Ile1554=)2318FLNCLikely benign374683306RCV000559677|RCV002341416; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128488696128488696NC_000007.13:g.128488696C>TClinGen:CA4475420C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4675C>A (p.Pro1559Thr)2318FLNCUncertain significance-1RCV002614257; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128488709128488709NC_000007.13:g.128488709C>A-
NM_001458.5(FLNC):c.4678G>A (p.Val1560Met)2318FLNCUncertain significance1351915127RCV001063488; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284887121284887127:g.128488712G>A-
NM_001458.5(FLNC):c.4678G>C (p.Val1560Leu)2318FLNCConflicting interpretations of pathogenicity1351915127RCV001992843|RCV002281204|RCV002334956; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN2307367128488712128488712128488712-
NM_001458.5(FLNC):c.4682del (p.Glu1561fs)2318FLNCPathogenic2128937556RCV001949298; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128488716128488716128488715-
NM_001458.5(FLNC):c.4687A>C (p.Thr1563Pro)2318FLNCUncertain significance1490741362RCV001366554; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128488721128488721128488721-
NM_001458.5(FLNC):c.4689C>A (p.Thr1563=)2318FLNCLikely benign2128937560RCV001466846; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128488723128488723128488723-
NM_001458.5(FLNC):c.4695C>T (p.Asp1565=)2318FLNCLikely benign769871754RCV000827282|RCV001089447|RCV002341417; NMedGen:CN517202|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284887291284887297:g.128488729C>TClinGen:CA4475423C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4696G>A (p.Ala1566Thr)2318FLNCUncertain significance1161262954RCV001779830|RCV002334695|RCV002541109; NMedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128488730128488730128488730-
NM_001458.5(FLNC):c.4697C>G (p.Ala1566Gly)2318FLNCUncertain significance1808670044RCV001897639; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128488731128488731128488731-
NM_001458.5(FLNC):c.4698_4699delinsTT (p.Arg1567Trp)2318FLNCUncertain significance2128937563RCV002028973; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128488732128488733128488732-
NM_001458.5(FLNC):c.4699C>T (p.Arg1567Trp)2318FLNCConflicting interpretations of pathogenicity369842920RCV000792385|RCV002487644|RCV003307422; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:61406571284887331284887337:g.128488733C>T-
NM_001458.5(FLNC):c.4700G>A (p.Arg1567Gln)2318FLNCBenign/Likely benign2291569RCV000117076|RCV000711689|RCV001510686|RCV002326814; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN23073671284887341284887347:g.128488734G>AClinGen:CA152865,UniProtKB:Q14315#VAR_015705CN169374 not specified;
NM_001458.5(FLNC):c.4700G>T (p.Arg1567Leu)2318FLNCUncertain significance2291569RCV000492930|RCV000824615; NMedGen:CN517202|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284887341284887347:g.128488734G>TClinGen:CA369202763CN169374 not specified;
NM_001458.5(FLNC):c.4702G>A (p.Asp1568Asn)2318FLNCUncertain significance1449992399RCV001235995|RCV003322871; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN51720271284887361284887367:g.128488736G>A-
NM_001458.5(FLNC):c.4704C>T (p.Asp1568=)2318FLNCLikely benign749131315RCV000877434; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284887381284887387:g.128488738C>T-
NM_001458.5(FLNC):c.4705G>A (p.Ala1569Thr)2318FLNCConflicting interpretations of pathogenicity768737324RCV000536046|RCV002491079|RCV003159896; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:6095247128488739128488739NC_000007.13:g.128488739G>AClinGen:CA4475425C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4707G>A (p.Ala1569=)2318FLNCConflicting interpretations of pathogenicity541323590RCV000544139|RCV002341418; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284887411284887417:g.128488741G>AClinGen:CA166184187C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4710C>T (p.Gly1570=)2318FLNCBenign774692750RCV000693349; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284887441284887447:g.128488744C>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4711G>A (p.Glu1571Lys)2318FLNCConflicting interpretations of pathogenicity761793156RCV001906579|RCV003146336|RCV003355631; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN2307367128488745128488745128488745-
NM_001458.5(FLNC):c.4716del (p.Leu1573fs)2318FLNCPathogenic1554400021RCV000529991; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284887471284887477:g.128488747_128488747delClinGen:CA658657722C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4716G>T (p.Gly1572=)2318FLNCLikely benign-1RCV003075634; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128488750128488750-
NM_001458.5(FLNC):c.4718T>A (p.Leu1573Ter)2318FLNCPathogenic2128937575RCV001382273; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128488752128488752128488752-
NM_001458.5(FLNC):c.4722C>T (p.Leu1574=)2318FLNCLikely benign376933198RCV001457749; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128488756128488756128488756-
NM_001458.5(FLNC):c.4724C>G (p.Thr1575Ser)2318FLNCLikely benign773294974RCV001069530; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284887581284887587:g.128488758C>G-
NM_001458.5(FLNC):c.4728C>T (p.Val1576=)2318FLNCLikely benign1222823077RCV001730233|RCV002073417|RCV003150456; NMedGen:C3661900|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|Human Phenotype Ontology:HP:0007128488762128488762128488762-
NM_001458.5(FLNC):c.4729C>T (p.Gln1577Ter)2318FLNCPathogenic1585163755RCV000799303; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284887631284887637:g.128488763C>T-
NM_001458.5(FLNC):c.4737+5G>A2318FLNCUncertain significance1808673722RCV001203091; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284887761284887767:g.128488776G>A-
NM_001458.5(FLNC):c.4737+9_4737+10del2318FLNCBenign794727437RCV000176729|RCV000556391|RCV001668338; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN51720271284887771284887787:g.128488777_128488778delClinGen:CA202081C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4737+15A>G2318FLNCBenign/Likely benign182734223RCV000439940|RCV001702652|RCV002062578; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284887861284887867:g.128488786A>GClinGen:CA4475430CN169374 not specified;
NM_001458.5(FLNC):c.4737+15A>C2318FLNCLikely benign182734223RCV002076059; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128488786128488786128488786-
NM_001458.5(FLNC):c.4737+18C>T2318FLNCLikely benign778735721RCV000612263|RCV002063333; NMedGen:CN169374|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284887891284887897:g.128488789C>TClinGen:CA4475432CN169374 not specified;
NM_001458.5(FLNC):c.4737+19C>G2318FLNCLikely benign-1RCV002857016; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128488790128488790NC_000007.13:g.128488790C>G-
NM_001458.5(FLNC):c.4737+20A>G2318FLNCLikely benign-1RCV003068004|RCV003331425; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310|MedGen:CN1693747128488791128488791NC_000007.13:g.128488791A>G-
NM_001458.5(FLNC):c.4738-17C>T2318FLNCLikely benign2128937608RCV002210126; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128488830128488830128488830-
NM_001458.5(FLNC):c.4738-7C>T2318FLNCLikely benign1808677827RCV001395062; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128488840128488840128488840-
NM_001458.5(FLNC):c.4738-6C>T2318FLNCLikely benign771410017RCV002086655; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128488841128488841128488841-
NM_001458.5(FLNC):c.4738-1G>A2318FLNCLikely pathogenic1808678197RCV001377041; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128488846128488846128488846-
NM_001458.5(FLNC):c.4740C>T (p.Asp1580=)2318FLNCLikely benign759816924RCV001434948; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128488849128488849128488849-
NM_001458.5(FLNC):c.4740C>A (p.Asp1580Glu)2318FLNCUncertain significance-1RCV003114883; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128488849128488849NC_000007.13:g.128488849C>A-
NM_001458.5(FLNC):c.4741C>A (p.Pro1581Thr)2318FLNCUncertain significance972936640RCV002039220|RCV002334728; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN2307367128488850128488850128488850-
NM_001458.5(FLNC):c.4742C>A (p.Pro1581His)2318FLNCUncertain significance1365087680RCV001346641; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128488851128488851128488851-
NM_001458.5(FLNC):c.4743C>G (p.Pro1581=)2318FLNCLikely benign765574147RCV002147320; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128488852128488852128488852-
NM_001458.5(FLNC):c.4744G>A (p.Glu1582Lys)2318FLNCConflicting interpretations of pathogenicity753022721RCV000649097|RCV003144435; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN51720271284888531284888537:g.128488853G>AClinGen:CA4475452C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4747G>A (p.Gly1583Ser)2318FLNCUncertain significance2128937618RCV002028780|RCV003170565; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128488856128488856128488856-
NM_001458.5(FLNC):c.4752G>A (p.Lys1584=)2318FLNCLikely benign-1RCV002644314|RCV003162087; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128488861128488861-
NM_001458.5(FLNC):c.4755del (p.Lys1586fs)2318FLNCPathogenic2128937622RCV001382767; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128488862128488862128488861-
NM_001458.5(FLNC):c.4762G>C (p.Ala1588Pro)2318FLNCUncertain significance761482137RCV000689939; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284888711284888717:g.128488871G>C-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4763C>G (p.Ala1588Gly)2318FLNCConflicting interpretations of pathogenicity148545460RCV000537141|RCV001560414|RCV002330946; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|MedGen:CN23073671284888721284888727:g.128488872C>GClinGen:CA4475454C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4767C>T (p.Asn1589=)2318FLNCLikely benign2128937627RCV002130091; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128488876128488876128488876-
NM_001458.5(FLNC):c.4769T>G (p.Ile1590Ser)2318FLNCUncertain significance1808679455RCV001341069; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128488878128488878128488878-
NM_001458.5(FLNC):c.4771C>T (p.Arg1591Trp)2318FLNCConflicting interpretations of pathogenicity576453637RCV000695251|RCV002334312|RCV003144528; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|MedGen:C366190071284888801284888807:g.128488880C>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4771C>A (p.Arg1591=)2318FLNCLikely benign576453637RCV002082269; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128488880128488880128488880-
NM_001458.5(FLNC):c.4772G>A (p.Arg1591Gln)2318FLNCUncertain significance755741955RCV001344269; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128488881128488881128488881-
NM_001458.5(FLNC):c.4775A>G (p.Asp1592Gly)2318FLNCUncertain significance1808679952RCV001241836; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284888841284888847:g.128488884A>G-
NM_001458.5(FLNC):c.4775A>T (p.Asp1592Val)2318FLNCUncertain significance-1RCV003082396; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128488884128488884NC_000007.13:g.128488884A>T-
NM_001458.5(FLNC):c.4779T>G (p.Asn1593Lys)2318FLNCUncertain significance948081935RCV001546397|RCV001319141; NMedGen:CN517202|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128488888128488888128488888-
NM_001458.5(FLNC):c.4783G>A (p.Asp1595Asn)2318FLNCUncertain significance780133859RCV001874841|RCV003146291; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:C36619007128488892128488892128488892-
NM_001458.5(FLNC):c.4790C>T (p.Thr1597Met)2318FLNCUncertain significance753742681RCV000550050|RCV002497176; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:60952471284888991284888997:g.128488899C>TClinGen:CA4475458C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4791G>A (p.Thr1597=)2318FLNCLikely benign374180766RCV000940354|RCV003307736; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN23073671284889001284889007:g.128488900G>A-
NM_001458.5(FLNC):c.4791G>T (p.Thr1597=)2318FLNCLikely benign-1RCV003112376; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128488900128488900-
NM_001458.5(FLNC):c.4794C>A (p.Tyr1598Ter)2318FLNCPathogenic1808681247RCV001236890; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284889031284889037:g.128488903C>A-
NM_001458.5(FLNC):c.4794C>T (p.Tyr1598=)2318FLNCLikely benign1808681247RCV001963257; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128488903128488903128488903-
NM_001458.5(FLNC):c.4795A>G (p.Thr1599Ala)2318FLNCUncertain significance2643767RCV000818480|RCV002336697; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284889041284889047:g.128488904A>G-
NM_001458.5(FLNC):c.4796C>T (p.Thr1599Ile)2318FLNCUncertain significance2128937641RCV001991038; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128488905128488905128488905-
NM_001458.5(FLNC):c.4800G>A (p.Val1600=)2318FLNCLikely benign747928612RCV001417057|RCV002341905; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128488909128488909128488909-
NM_001458.5(FLNC):c.4803C>T (p.Ser1601=)2318FLNCLikely benign371475710RCV001409053|RCV002341879; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128488912128488912128488912-
NM_001458.5(FLNC):c.4811C>T (p.Pro1604Leu)2318FLNCUncertain significance778021239RCV001238496; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284889201284889207:g.128488920C>T-
NM_001458.5(FLNC):c.4812G>A (p.Pro1604=)2318FLNCLikely benign553400393RCV001058699|RCV001700969|RCV001724219|RCV002339292; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN169374|MedGen:C3661900|MedGen:CN23073671284889211284889217:g.128488921G>A-
NM_001458.5(FLNC):c.4812G>T (p.Pro1604=)2318FLNCLikely benign-1RCV002966155; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128488921128488921-
NM_001458.5(FLNC):c.4815C>T (p.Asp1605=)2318FLNCLikely benign2128937651RCV001456140; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128488924128488924128488924-
NM_001458.5(FLNC):c.4817T>A (p.Met1606Lys)2318FLNCUncertain significance1808683017RCV001302976; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128488926128488926128488926-
NM_001458.5(FLNC):c.4825C>G (p.Arg1609Gly)2318FLNCUncertain significance374756527RCV000696973|RCV002334327; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284889341284889347:g.128488934C>G-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4825C>T (p.Arg1609Trp)2318FLNCConflicting interpretations of pathogenicity374756527RCV000809766|RCV001585738; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN51720271284889341284889347:g.128488934C>T-
NM_001458.5(FLNC):c.4826G>A (p.Arg1609Gln)2318FLNCUncertain significance1168628508RCV000701023; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284889351284889357:g.128488935G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4831A>T (p.Thr1611Ser)2318FLNCUncertain significance770231264RCV001364441|RCV001773724; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:C36619007128488940128488940128488940-
NM_001458.5(FLNC):c.4832C>T (p.Thr1611Ile)2318FLNCUncertain significance1025308371RCV001055786|RCV002327319; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284889411284889417:g.128488941C>T-
NM_001458.5(FLNC):c.4851C>T (p.Gly1617=)2318FLNCLikely benign1357827460RCV001465004; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128488960128488960128488960-
NM_001458.5(FLNC):c.4851C>A (p.Gly1617=)2318FLNCLikely benign-1RCV002877608; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128488960128488960-
NM_001458.5(FLNC):c.4852G>A (p.Gly1618Ser)2318FLNCUncertain significance367824027RCV001983603; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128488961128488961128488961-
NM_001458.5(FLNC):c.4857T>C (p.Asp1619=)2318FLNCLikely benign1169437113RCV001408679; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128488966128488966128488966-
NM_001458.5(FLNC):c.4858G>A (p.Glu1620Lys)2318FLNCUncertain significance1808685152RCV001304368|RCV003166722; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128488967128488967128488967-
NM_001458.5(FLNC):c.4860G>A (p.Glu1620=)2318FLNCLikely benign1397680696RCV001417968|RCV003298702; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128488969128488969128488969-
NM_001458.5(FLNC):c.4868A>G (p.Tyr1623Cys)2318FLNCUncertain significance1585164018RCV001317036; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128488977128488977128488977-
NM_001458.5(FLNC):c.4871C>T (p.Ser1624Leu)2318FLNCConflicting interpretations of pathogenicity879255639RCV000239540|RCV001223109|RCV001265576|RCV002255096|RCV003150143|RCV003372670; NMONDO:MONDO:0800371,MedGen:C4310748|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273||MONDO:MOND7128488980128488980NC_000007.13:g.128488980C>TClinGen:CA10586205,UniProtKB:Q14315#VAR_077039,OMIM:102565.0008CN237821 Cardiomyopathy, familial restrictive, 5;
NM_001458.5(FLNC):c.4872G>A (p.Ser1624=)2318FLNCLikely benign767264014RCV000649242|RCV002334179; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284889811284889817:g.128488981G>AClinGen:CA4475471C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4873C>T (p.Pro1625Ser)2318FLNCUncertain significance2128937664RCV001920784; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128488982128488982128488982-
NM_001458.5(FLNC):c.4874C>T (p.Pro1625Leu)2318FLNCUncertain significance1585164029RCV000811921; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284889831284889837:g.128488983C>T-
NM_001458.5(FLNC):c.4878C>T (p.Phe1626=)2318FLNCLikely benign750164635RCV002094529; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128488987128488987128488987-
NM_001458.5(FLNC):c.4879C>T (p.Arg1627Cys)2318FLNCConflicting interpretations of pathogenicity760407609RCV000526189|RCV002341419; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284889881284889887:g.128488988C>TClinGen:CA4475473C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4880G>A (p.Arg1627His)2318FLNCConflicting interpretations of pathogenicity751592993RCV000649149|RCV000659090|RCV002338860; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C3661900|MedGen:CN23073671284889891284889897:g.128488989G>AClinGen:CA10606594C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4880G>T (p.Arg1627Leu)2318FLNCUncertain significance751592993RCV001870912; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128488989128488989128488989-
NM_001458.5(FLNC):c.4884C>A (p.Ile1628=)2318FLNCLikely benign1808686843RCV001427718; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128488993128488993128488993-
NM_001458.5(FLNC):c.4887T>A (p.His1629Gln)2318FLNCUncertain significance1585164043RCV001915523; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128488996128488996128488996-
NM_001458.5(FLNC):c.4888G>T (p.Ala1630Ser)2318FLNCUncertain significance1479430297RCV000533967; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128488997128488997NC_000007.13:g.128488997G>TClinGen:CA369203506C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4888G>A (p.Ala1630Thr)2318FLNCUncertain significance1479430297RCV001986695; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128488997128488997128488997-
NM_001458.5(FLNC):c.4896C>T (p.Pro1632=)2318FLNCLikely benign2128937674RCV002137152; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128489005128489005128489005-
NM_001458.5(FLNC):c.4897A>G (p.Thr1633Ala)2318FLNCUncertain significance-1RCV002595463; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128489006128489006NC_000007.13:g.128489006A>G-
NM_001458.5(FLNC):c.4911C>G (p.Ser1637Arg)2318FLNCConflicting interpretations of pathogenicity1469272964RCV001246304|RCV001587279|RCV002491831|RCV002568650; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN517202|MONDO:MONDO:0013550,MedGen:C32771284890201284890207:g.128489020C>G-
NM_001458.5(FLNC):c.4914G>A (p.Lys1638=)2318FLNCLikely benign371385321RCV000956204|RCV001729759|RCV001729758|RCV002346164; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN169374|MedGen:CN517202|MedGen:CN23073671284890231284890237:g.128489023G>A-
NM_001458.5(FLNC):c.4914G>T (p.Lys1638Asn)2318FLNCUncertain significance-1RCV002947726; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128489023128489023NC_000007.13:g.128489023G>T-
NM_001458.5(FLNC):c.4926_4927insACGTCACA (p.Val1643fs)2318FLNCPathogenic/Likely pathogenic1402879259RCV000547143|RCV001543364|RCV002341490|RCV003324768; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|EFO:EFO_0000407,Human Phenotype Ontology:HP:00071284890281284890297:g.128489028_128489029insCGTCACAAClinGen:CA457848858C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4920_4927+6del2318FLNCLikely pathogenic-1RCV003063814; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128489028128489041NC_000007.13:g.128489029_128489042del-
NM_001458.5(FLNC):c.4920C>T (p.Leu1640=)2318FLNCLikely benign752516424RCV001500952|RCV002334550; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128489029128489029128489029-
NM_001458.5(FLNC):c.4921G>A (p.Val1641Ile)2318FLNCConflicting interpretations of pathogenicity575068215RCV000807427|RCV001508594|RCV002336648; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C3661900|MedGen:CN23073671284890301284890307:g.128489030G>A-
NM_001458.5(FLNC):c.4925C>T (p.Thr1642Ile)2318FLNCUncertain significance756074974RCV000649175; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284890341284890347:g.128489034C>TClinGen:CA4475480C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4926A>G (p.Thr1642=)2318FLNCUncertain significance1808689032RCV001213574; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284890351284890357:g.128489035A>G-
NM_001458.5(FLNC):c.4927+2T>G2318FLNCLikely pathogenic2128937680RCV002044311; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128489038128489038128489038-
NM_001458.5(FLNC):c.4927+3G>A2318FLNCUncertain significance2128937684RCV001967790; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128489039128489039128489039-
NM_001458.5(FLNC):c.4927+5G>A2318FLNCUncertain significance1808689249RCV001878531; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128489041128489041128489041-
NM_001458.5(FLNC):c.4927+10C>T2318FLNCLikely benign-1RCV003039901; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128489046128489046NC_000007.13:g.128489046C>T-
NM_001458.5(FLNC):c.4927+12C>T2318FLNCLikely benign-1RCV003078258; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128489048128489048NC_000007.13:g.128489048C>T-
NM_001458.5(FLNC):c.4927+14C>T2318FLNCLikely benign542105844RCV002088229; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128489050128489050128489050-
NM_001458.5(FLNC):c.4927+14C>A2318FLNCLikely benign-1RCV003075103; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128489050128489050NC_000007.13:g.128489050C>A-
NM_001458.5(FLNC):c.4927+15G>A2318FLNCBenign200013064RCV002127347; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128489051128489051128489051-
NM_001458.5(FLNC):c.4928-16T>G2318FLNCLikely benign-1RCV002932148; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128489219128489219NC_000007.13:g.128489219T>G-
NM_001458.5(FLNC):c.4928-10C>G2318FLNCLikely benign2128937745RCV002175969; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128489225128489225128489225-
NM_001458.5(FLNC):c.4928-9T>C2318FLNCLikely benign749753725RCV002138991; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128489226128489226128489226-
NM_001458.5(FLNC):c.4928-7T>C2318FLNCBenign201957008RCV000176925|RCV000551130|RCV001573908; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C366190071284892281284892287:g.128489228T>CClinGen:CA202173C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4928-4C>G2318FLNCLikely benign774816687RCV001432318; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284892311284892317:g.128489231C>G-
NM_001458.5(FLNC):c.4931C>G (p.Ser1644Cys)2318FLNCUncertain significance1808699932RCV002021738|RCV002337160; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128489238128489238128489238-
NM_001458.5(FLNC):c.4934T>C (p.Ile1645Thr)2318FLNCUncertain significance-1RCV002624508; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128489241128489241NC_000007.13:g.128489241T>C-
NM_001458.5(FLNC):c.4937G>A (p.Gly1646Glu)2318FLNCUncertain significance-1RCV002675680; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128489244128489244NC_000007.13:g.128489244G>A-
NM_001458.5(FLNC):c.4939G>A (p.Gly1647Ser)2318FLNCUncertain significance748563858RCV001998923; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128489246128489246128489246-
NM_001458.5(FLNC):c.4946del (p.Gly1649fs)2318FLNCPathogenic1282619643RCV001386350|RCV002341827; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128489252128489252128489251-
NM_001458.5(FLNC):c.4947C>T (p.Gly1649=)2318FLNCBenign/Likely benign201069454RCV000243782|RCV000526421|RCV001705355|RCV002487123|RCV002338800; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C3661900|MONDO:MONDO:00171284892541284892547:g.128489254C>TClinGen:CA4475507C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4951+2T>C2318FLNCConflicting interpretations of pathogenicity1585164316RCV002010673|RCV003225217|RCV002337120; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C3661900|MedGen:CN2307367128489260128489260128489260-
NM_001458.5(FLNC):c.4951+3G>A2318FLNCConflicting interpretations of pathogenicity377554196RCV001205108|RCV001561960; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN51720271284892611284892617:g.128489261G>A-
NM_001458.5(FLNC):c.4951+7G>A2318FLNCLikely benign370501464RCV000649230; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128489265128489265NC_000007.13:g.128489265G>AClinGen:CA4475509C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4951+10C>T2318FLNCLikely benign778809639RCV000649203; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128489268128489268NC_000007.13:g.128489268C>TClinGen:CA4475510C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4951+16C>G2318FLNCLikely benign-1RCV002858641; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128489274128489274NC_000007.13:g.128489274C>G-
NM_001458.5(FLNC):c.4951+19C>A2318FLNCLikely benign-1RCV002790254; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128489277128489277NC_000007.13:g.128489277C>A-
NM_001458.5(FLNC):c.4952-20C>T2318FLNCLikely benign1199089488RCV002107002; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128489365128489365128489365-
NM_001458.5(FLNC):c.4952-10C>T2318FLNCBenign/Likely benign142611699RCV000538995|RCV001704478; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C366190071284893751284893757:g.128489375C>TClinGen:CA4475526C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4952-9G>T2318FLNCLikely benign747821376RCV000649260|RCV001546668; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN51720271284893761284893767:g.128489376G>TClinGen:CA4475528C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4952-9G>A2318FLNCLikely benign747821376RCV001347123; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128489376128489376128489376-
NM_001458.5(FLNC):c.4952-9G>C2318FLNCLikely benign747821376RCV002141848; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128489376128489376128489376-
NM_001458.5(FLNC):c.4952-7A>G2318FLNCLikely benign746914067RCV002186599; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128489378128489378128489378-
NM_001458.5(FLNC):c.4952-7A>T2318FLNCLikely benign-1RCV002866562; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128489378128489378NC_000007.13:g.128489378A>T-
NM_001458.5(FLNC):c.4952-2A>T2318FLNCLikely pathogenic774945928RCV000690838|RCV002334285|RCV003227829; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|MedGen:CN5172027128489383128489383NC_000007.13:g.128489383A>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4952G>A (p.Gly1651Asp)2318FLNCUncertain significance762493974RCV000726915|RCV001215135|RCV002341149; NMedGen:CN517202|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN23073671284893851284893857:g.128489385G>AClinGen:CA4475530CN169374 not specified;
NM_001458.5(FLNC):c.4953T>G (p.Gly1651=)2318FLNCLikely benign-1RCV003025511; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128489386128489386-
NM_001458.5(FLNC):c.4956C>A (p.Ala1652=)2318FLNCLikely benign-1RCV003024172; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128489389128489389-
NM_001458.5(FLNC):c.4959C>A (p.Cys1653Ter)2318FLNCPathogenic-1RCV003034393; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128489392128489392NC_000007.13:g.128489392C>A-
NM_001458.5(FLNC):c.4969C>T (p.Arg1657Ter)2318FLNCPathogenic/Likely pathogenic1563000044RCV000760793|RCV000809449|RCV003362932; NMedGen:CN517202|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128489402128489402NC_000007.13:g.128489402C>T-
NM_001458.5(FLNC):c.4969C>G (p.Arg1657Gly)2318FLNCUncertain significance1563000044RCV001309961|RCV002471083|RCV002508307; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:6170477128489402128489402128489402-
NM_001458.5(FLNC):c.4970G>A (p.Arg1657Gln)2318FLNCConflicting interpretations of pathogenicity374294752RCV000527473|RCV002341420|RCV003144355; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MedGen:CN51720271284894031284894037:g.128489403G>AClinGen:CA4475534C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4977G>C (p.Gln1659His)2318FLNCUncertain significance1297786780RCV000808094; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284894101284894107:g.128489410G>C-
NM_001458.5(FLNC):c.4979T>C (p.Ile1660Thr)2318FLNCLikely benign750254727RCV001315930; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128489412128489412128489412-
NM_001458.5(FLNC):c.4981G>A (p.Gly1661Arg)2318FLNCUncertain significance2128937796RCV001892802; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128489414128489414128489414-
NM_001458.5(FLNC):c.4984C>T (p.Gln1662Ter)2318FLNCPathogenic1808708673RCV001056776; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284894171284894177:g.128489417C>T-
NM_001458.5(FLNC):c.4991C>T (p.Thr1664Met)2318FLNCConflicting interpretations of pathogenicity780829334RCV000585445|RCV000649125|RCV001262958|RCV002350109; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MONDO:MONDO:0014883,MedGen:C43171284894241284894247:g.128489424C>TClinGen:CA4475536C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.4992G>A (p.Thr1664=)2318FLNCLikely benign766665525RCV002099385; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128489425128489425128489425-
NM_001458.5(FLNC):c.4995G>A (p.Val1665=)2318FLNCLikely benign368212293RCV002171075; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128489428128489428128489428-
NM_001458.5(FLNC):c.5000C>T (p.Thr1667Met)2318FLNCConflicting interpretations of pathogenicity753945728RCV000540351|RCV002341421; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284894331284894337:g.128489433C>TClinGen:CA4475538C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5001G>A (p.Thr1667=)2318FLNCLikely benign370711488RCV000908264|RCV002336892; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284894341284894347:g.128489434G>A-
NM_001458.5(FLNC):c.5001G>T (p.Thr1667=)2318FLNCLikely benign370711488RCV002122608|RCV002337294; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128489434128489434128489434-
NM_001458.5(FLNC):c.5011A>G (p.Lys1671Glu)2318FLNCUncertain significance1563000088RCV000695301; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128489444128489444NC_000007.13:g.128489444A>G-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5013G>T (p.Lys1671Asn)2318FLNCUncertain significance-1RCV002619279; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128489446128489446NC_000007.13:g.128489446G>T-
NM_001458.5(FLNC):c.5019C>T (p.Ala1673=)2318FLNCLikely benign747436514RCV001487181|RCV002336928; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284894521284894527:g.128489452C>T-
NM_001458.5(FLNC):c.5020G>A (p.Gly1674Ser)2318FLNCConflicting interpretations of pathogenicity374124083RCV000552991|RCV000709882|RCV000764684|RCV001584313|RCV002350340; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:60952471284894531284894537:g.128489453G>AClinGen:CA4475545C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5021_5023del (p.Gly1674del)2318FLNCUncertain significance-1RCV003014576; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128489453128489455NC_000007.13:g.128489454_128489456del-
NM_001458.5(FLNC):c.5022T>G (p.Gly1674=)2318FLNCLikely benign1282017206RCV001411568; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128489455128489455128489455-
NM_001458.5(FLNC):c.5026G>A (p.Gly1676Arg)2318FLNCUncertain significance1585164542RCV000797262; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN23931071284894591284894597:g.128489459G>A-
NM_001458.5(FLNC):c.5027G>A (p.Gly1676Glu)2318FLNCUncertain significance-1RCV002810725; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128489460128489460NC_000007.13:g.128489460G>A-
NM_001458.5(FLNC):c.5029A>C (p.Lys1677Gln)2318FLNCUncertain significance1554400214RCV000533419; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284894621284894627:g.128489462A>CClinGen:CA369204024C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5031G>A (p.Lys1677=)2318FLNCLikely benign534356967RCV001485893; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128489464128489464128489464-
NM_001458.5(FLNC):c.5036C>A (p.Thr1679Lys)2318FLNCUncertain significance1364205864RCV001209920; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284894691284894697:g.128489469C>A-
NM_001458.5(FLNC):c.5039G>C (p.Cys1680Ser)2318FLNCUncertain significance552930634RCV001351129; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128489472128489472128489472-
NM_001458.5(FLNC):c.5042C>G (p.Thr1681Arg)2318FLNCBenign/Likely benign193159707RCV000177456|RCV000546030|RCV001721115|RCV002345617; NMedGen:CN169374|MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|MedGen:CN23073671284894751284894757:g.128489475C>GClinGen:CA202476C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5042C>T (p.Thr1681Met)2318FLNCConflicting interpretations of pathogenicity193159707RCV001873002|RCV002343941|RCV003395251; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|7128489475128489475128489475-
NM_001458.5(FLNC):c.5043G>A (p.Thr1681=)2318FLNCLikely benign200405579RCV001453361|RCV002350914|RCV002476772; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN230736|MONDO:MONDO:0012289,MedGen:C1837128489476128489476128489476-
NM_001458.5(FLNC):c.5044G>C (p.Val1682Leu)2318FLNCUncertain significance-1RCV002819117; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128489477128489477NC_000007.13:g.128489477G>C-
NM_001458.5(FLNC):c.5051C>T (p.Thr1684Met)2318FLNCConflicting interpretations of pathogenicity1294213097RCV000813779|RCV002336681|RCV002470990; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MONDO:MONDO:0014883,MedGen:C43171284894841284894847:g.128489484C>T-
NM_001458.5(FLNC):c.5054C>T (p.Pro1685Leu)2318FLNCUncertain significance1385628312RCV001237320|RCV002348804; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284894871284894877:g.128489487C>T-
NM_001458.5(FLNC):c.5055G>A (p.Pro1685=)2318FLNCLikely benign57797061RCV000427923|RCV000823867; NMedGen:CN169374|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284894881284894887:g.128489488G>AClinGen:CA4475551CN169374 not specified;
NM_001458.5(FLNC):c.5056G>T (p.Asp1686Tyr)2318FLNCUncertain significance-1RCV002305369; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128489489128489489128489489-
NM_001458.5(FLNC):c.5059G>A (p.Gly1687Arg)2318FLNCUncertain significance1808713041RCV001231104; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284894921284894927:g.128489492G>A-
NM_001458.5(FLNC):c.5064_5084dup (p.Leu1690_Glu1696dup)2318FLNCUncertain significance1808713133RCV001323380; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128489496128489497128489496-
NM_001458.5(FLNC):c.5068C>G (p.Leu1690Val)2318FLNCLikely benign-1RCV002607612; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128489501128489501NC_000007.13:g.128489501C>G-
NM_001458.5(FLNC):c.5070C>T (p.Leu1690=)2318FLNCBenign/Likely benign202027738RCV000555864|RCV001580494|RCV002339061|RCV002506056; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:00171284895031284895037:g.128489503C>TClinGen:CA4475553C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5071G>A (p.Asp1691Asn)2318FLNCUncertain significance777061037RCV000691625|RCV002275117|RCV002334294|RCV002493176; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:00171284895041284895047:g.128489504G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5088G>C (p.Glu1696Asp)2318FLNCUncertain significance1563000172RCV001923310; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128489521128489521128489521-
NM_001458.5(FLNC):c.5088G>A (p.Glu1696=)2318FLNCLikely benign1563000172RCV002198757|RCV002337398; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128489521128489521128489521-
NM_001458.5(FLNC):c.5097C>T (p.Asp1699=)2318FLNCLikely benign1246194093RCV000553212|RCV002341422; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284895301284895307:g.128489530C>TClinGen:CA457848952C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5098G>A (p.Gly1700Ser)2318FLNCConflicting interpretations of pathogenicity1264382469RCV001554970|RCV001882636; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128489531128489531128489531-
NM_001458.5(FLNC):c.5110A>G (p.Ile1704Val)2318FLNCUncertain significance2128937827RCV001957915; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128489543128489543128489543-
NM_001458.5(FLNC):c.5111T>C (p.Ile1704Thr)2318FLNCConflicting interpretations of pathogenicity752850659RCV001228218|RCV002339621; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284895441284895447:g.128489544T>C-
NM_001458.5(FLNC):c.5114A>T (p.Tyr1705Phe)2318FLNCUncertain significance-1RCV002662927; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128489547128489547NC_000007.13:g.128489547A>T-
NM_001458.5(FLNC):c.5117A>G (p.Tyr1706Cys)2318FLNCUncertain significance-1RCV002923593; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128489550128489550NC_000007.13:g.128489550A>G-
NM_001458.5(FLNC):c.5123C>T (p.Ala1708Val)2318FLNCUncertain significance1011817473RCV000529347; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284895561284895567:g.128489556C>TClinGen:CA166185497C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5124G>A (p.Ala1708=)2318FLNCLikely benign764707313RCV001707848|RCV002066906|RCV002334030; NMedGen:C3661900|MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284895571284895577:g.128489557G>AClinGen:CA4475559CN169374 not specified;
NM_001458.5(FLNC):c.5127C>T (p.Pro1709=)2318FLNCBenign/Likely benign540345016RCV001091489|RCV001523748|RCV002339394; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310|MedGen:CN23073671284895601284895607:g.128489560C>T-
NM_001458.5(FLNC):c.5128G>A (p.Glu1710Lys)2318FLNCUncertain significance200077114RCV000688028|RCV000764685|RCV002334266|RCV003317339; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:6170477128489561128489561NC_000007.13:g.128489561G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5132C>T (p.Pro1711Leu)2318FLNCUncertain significance748879903RCV000690012|RCV000788521|RCV002493170|RCV002343452; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN517202|MONDO:MONDO:0013550,MedGen:C32771284895651284895657:g.128489565C>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5133G>A (p.Pro1711=)2318FLNCLikely benign754646406RCV000926037|RCV001550679; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN51720271284895661284895667:g.128489566G>A-
NM_001458.5(FLNC):c.5135G>C (p.Gly1712Ala)2318FLNCUncertain significance2128937832RCV001761125|RCV002300579; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128489568128489568128489568-
NM_001458.5(FLNC):c.5142C>T (p.Tyr1714=)2318FLNCLikely benign573362121RCV001503202|RCV001581162; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:C36619007128489575128489575128489575-
NM_001458.5(FLNC):c.5143G>A (p.Val1715Ile)2318FLNCLikely benign200178370RCV000649246|RCV001539535|RCV002334181; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|MedGen:CN23073671284895761284895767:g.128489576G>AClinGen:CA4475567C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5149A>T (p.Thr1717Ser)2318FLNCUncertain significance-1RCV002630786; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128489582128489582NC_000007.13:g.128489582A>T-
NM_001458.5(FLNC):c.5155C>T (p.Arg1719Cys)2318FLNCUncertain significance773260834RCV000546251|RCV001755875|RCV003159897; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN23073671284895881284895887:g.128489588C>TClinGen:CA4475568C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5156G>A (p.Arg1719His)2318FLNCConflicting interpretations of pathogenicity746777092RCV001228779|RCV002339624|RCV002466644; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|MONDO:MONDO:0014883,MedGen:C43171284895891284895897:g.128489589G>A-
NM_001458.5(FLNC):c.5157C>T (p.Arg1719=)2318FLNCLikely benign770784518RCV000950512; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284895901284895907:g.128489590C>T-
NM_001458.5(FLNC):c.5160C>T (p.Phe1720=)2318FLNCLikely benign562101000RCV001486597|RCV002334178; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128489593128489593NC_000007.13:g.128489593C>TClinGen:CA4475571C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5160C>A (p.Phe1720Leu)2318FLNCUncertain significance-1RCV003080403; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128489593128489593NC_000007.13:g.128489593C>A-
NM_001458.5(FLNC):c.5165del (p.Gly1722fs)2318FLNCPathogenic/Likely pathogenic1554400242RCV000649119|RCV002255493; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN51720271284895941284895947:g.128489594_128489594delClinGen:CA658797011C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5161G>A (p.Gly1721Arg)2318FLNCUncertain significance759786433RCV001039194|RCV001772220; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN51720271284895941284895947:g.128489594G>A-
NM_001458.5(FLNC):c.5162G>A (p.Gly1721Glu)2318FLNCUncertain significance1181189567RCV001040149|RCV001593203; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN51720271284895951284895957:g.128489595G>A-
NM_001458.5(FLNC):c.5164G>A (p.Gly1722Ser)2318FLNCUncertain significance765591354RCV001339880; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128489597128489597128489597-
NM_001458.5(FLNC):c.5165G>C (p.Gly1722Ala)2318FLNCUncertain significance775405275RCV000799713|RCV002334510|RCV002487683; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MONDO:MONDO:0012289,MedGen:C18371284895981284895987:g.128489598G>C-
NM_001458.5(FLNC):c.5165G>A (p.Gly1722Asp)2318FLNCUncertain significance-1RCV003076305|RCV003274184; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310|MedGen:CN2307367128489598128489598NC_000007.13:g.128489598G>A-
NM_001458.5(FLNC):c.5170C>T (p.His1724Tyr)2318FLNCUncertain significance2128937841RCV002049061; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128489603128489603128489603-
NM_001458.5(FLNC):c.5176C>T (p.Pro1726Ser)2318FLNCConflicting interpretations of pathogenicity529240463RCV001881283|RCV002334792; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128489609128489609128489609-
NM_001458.5(FLNC):c.5179A>G (p.Asn1727Asp)2318FLNCUncertain significance2128937845RCV002038928; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128489612128489612128489612-
NM_001458.5(FLNC):c.5181C>A (p.Asn1727Lys)2318FLNCUncertain significance764500516RCV000649177; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128489614128489614NC_000007.13:g.128489614C>AClinGen:CA4475576C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5182A>G (p.Ser1728Gly)2318FLNCUncertain significance1554400248RCV000558786; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284896151284896157:g.128489615A>GClinGen:CA369204368C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5187C>T (p.Pro1729=)2318FLNCLikely benign2128937847RCV002109602; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128489620128489620128489620-
NM_001458.5(FLNC):c.5191C>T (p.His1731Tyr)2318FLNCConflicting interpretations of pathogenicity1255727604RCV001208681|RCV002466632|RCV003163582; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:61704771284896241284896247:g.128489624C>T-
NM_001458.5(FLNC):c.5193C>T (p.His1731=)2318FLNCLikely benign752034193RCV002087667; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128489626128489626128489626-
NM_001458.5(FLNC):c.5194G>A (p.Val1732Met)2318FLNCConflicting interpretations of pathogenicity374848954RCV000797781|RCV002272359|RCV002334495|RCV003336191; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|EFO:EFO_0000407,Human Phenotype Ontology:HP:00071284896271284896277:g.128489627G>A-
NM_001458.5(FLNC):c.5194G>C (p.Val1732Leu)2318FLNCUncertain significance-1RCV002296236; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128489627128489627128489627-
NM_001458.5(FLNC):c.5199+1G>C2318FLNCLikely pathogenic1465588989RCV001068247; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284896331284896337:g.128489633G>C-
NM_001458.5(FLNC):c.5199+1G>T2318FLNCLikely pathogenic1465588989RCV001378838|RCV003365377; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128489633128489633128489633-
NM_001458.5(FLNC):c.5199+18A>G2318FLNCLikely benign2128937856RCV002166091; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128489650128489650128489650-
NM_001458.5(FLNC):c.5200-20C>T2318FLNCLikely benign-1RCV003061837; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490010128490010NC_000007.13:g.128490010C>T-
NM_001458.5(FLNC):c.5200-18C>T2318FLNCBenign/Likely benign372184893RCV000249135|RCV001797074|RCV002058055; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128490012128490012NC_000007.13:g.128490012C>TClinGen:CA4475600CN169374 not specified;
NM_001458.5(FLNC):c.5200-18C>G2318FLNCUncertain significance-1RCV003007877; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490012128490012NC_000007.13:g.128490012C>G-
NM_001458.5(FLNC):c.5200-17G>A2318FLNCLikely benign377225258RCV002114915; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128490013128490013128490013-
NM_001458.5(FLNC):c.5200-10G>A2318FLNCLikely benign1554400346RCV000649213; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284900201284900207:g.128490020G>AClinGen:CA658797012C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5200-9C>T2318FLNCLikely benign777290470RCV000649189; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490021128490021NC_000007.13:g.128490021C>TClinGen:CA4475605C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5200-8C>T2318FLNCLikely benign1478656876RCV000535264; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128490022128490022NC_000007.13:g.128490022C>TClinGen:CA577746913C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5200G>A (p.Ala1734Thr)2318FLNCUncertain significance1359496906RCV002042698; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490030128490030128490030-
NM_001458.5(FLNC):c.5201C>T (p.Ala1734Val)2318FLNCUncertain significance751149867RCV001941183; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128490031128490031128490031-
NM_001458.5(FLNC):c.5202G>A (p.Ala1734=)2318FLNCLikely benign757233206RCV000543331|RCV002341423|RCV002060347; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MedGen:C366190071284900321284900327:g.128490032G>AClinGen:CA4475607C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5205T>G (p.Cys1735Trp)2318FLNCUncertain significance-1RCV002690996; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490035128490035NC_000007.13:g.128490035T>G-
NM_001458.5(FLNC):c.5208C>A (p.Asp1736Glu)2318FLNCUncertain significance1291689149RCV000535487|RCV000786135|RCV002350341; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN23073671284900381284900387:g.128490038C>AClinGen:CA369204491C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5212C>T (p.Leu1738=)2318FLNCLikely benign1308173261RCV000920005|RCV002336910; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284900421284900427:g.128490042C>T-
NM_001458.5(FLNC):c.5216C>T (p.Pro1739Leu)2318FLNCConflicting interpretations of pathogenicity745650222RCV000548109|RCV001755876|RCV002350342|RCV002483475; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:00171284900461284900467:g.128490046C>TClinGen:CA4475609C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5216C>A (p.Pro1739Gln)2318FLNCConflicting interpretations of pathogenicity745650222RCV000803143|RCV003456434; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C366190071284900461284900467:g.128490046C>A-
NM_001458.5(FLNC):c.5217G>T (p.Pro1739=)2318FLNCLikely benign769643482RCV001412723; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284900471284900477:g.128490047G>T-
NM_001458.5(FLNC):c.5217G>A (p.Pro1739=)2318FLNCLikely benign769643482RCV001479102|RCV002350566; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128490047128490047128490047-
NM_001458.5(FLNC):c.5217G>C (p.Pro1739=)2318FLNCLikely benign769643482RCV002195925; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128490047128490047128490047-
NM_001458.5(FLNC):c.5220C>T (p.His1740=)2318FLNCLikely benign369739871RCV000920637|RCV001537034|RCV002346090; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310|MedGen:C3661900|MedGen:CN23073671284900501284900507:g.128490050C>T-
NM_001458.5(FLNC):c.5221G>A (p.Glu1741Lys)2318FLNCConflicting interpretations of pathogenicity200792813RCV000528792|RCV001545254|RCV002341425|RCV003224330; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:00171284900511284900517:g.128490051G>AClinGen:CA4475613C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5224G>A (p.Glu1742Lys)2318FLNCUncertain significance774458113RCV002021731; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128490054128490054128490054-
NM_001458.5(FLNC):c.5229G>A (p.Glu1743=)2318FLNCLikely benign1245475286RCV002168903; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490059128490059128490059-
NM_001458.5(FLNC):c.5231C>T (p.Pro1744Leu)2318FLNCUncertain significance-1RCV002681720; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490061128490061NC_000007.13:g.128490061C>T-
NM_001458.5(FLNC):c.5233T>A (p.Ser1745Thr)2318FLNCUncertain significance-1RCV002792135; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490063128490063NC_000007.13:g.128490063T>A-
NM_001458.5(FLNC):c.5235T>C (p.Ser1745=)2318FLNCLikely benign1245426549RCV001414366; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128490065128490065128490065-
NM_001458.5(FLNC):c.5238A>C (p.Glu1746Asp)2318FLNCUncertain significance1563000552RCV000706534; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284900681284900687:g.128490068A>C-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5239G>A (p.Val1747Met)2318FLNCUncertain significance764373507RCV000536684; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128490069128490069NC_000007.13:g.128490069G>AClinGen:CA166186164C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5241G>C (p.Val1747=)2318FLNCLikely benign1199231657RCV002150346; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128490071128490071128490071-
NM_001458.5(FLNC):c.5242C>T (p.Pro1748Ser)2318FLNCUncertain significance1380018208RCV001338887|RCV002499670; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:6095247128490072128490072128490072-
NM_001458.5(FLNC):c.5251C>T (p.Arg1751Cys)2318FLNCUncertain significance1585165163RCV000799109|RCV003330958; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN16937471284900811284900817:g.128490081C>T-
NM_001458.5(FLNC):c.5252G>A (p.Arg1751His)2318FLNCLikely benign-1RCV002344357|RCV003096671; NMedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128490082128490082128490082-
NM_001458.5(FLNC):c.5257C>A (p.Pro1753Thr)2318FLNCConflicting interpretations of pathogenicity573399358RCV000818866|RCV002305544; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C366190071284900871284900877:g.128490087C>A-
NM_001458.5(FLNC):c.5261A>G (p.Tyr1754Cys)2318FLNCUncertain significance1330454582RCV000800866|RCV001785726; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN51720271284900911284900917:g.128490091A>G-
NM_001458.5(FLNC):c.5262C>T (p.Tyr1754=)2318FLNCBenign/Likely benign369165766RCV000560150|RCV001697313|RCV002341424|RCV003330789; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN230736|MedGen:CN16937471284900921284900927:g.128490092C>TClinGen:CA4475618C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5263G>A (p.Ala1755Thr)2318FLNCLikely benign368768007RCV001305002; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128490093128490093128490093-
NM_001458.5(FLNC):c.5264C>G (p.Ala1755Gly)2318FLNCConflicting interpretations of pathogenicity1286156977RCV000812823|RCV002336679; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284900941284900947:g.128490094C>G-
NM_001458.5(FLNC):c.5265TCC[1] (p.Pro1757del)2318FLNCUncertain significance1808740121RCV001050670; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284900941284900967:g.128490094_128490096del-
NM_001458.5(FLNC):c.5264C>T (p.Ala1755Val)2318FLNCUncertain significance1286156977RCV001897844; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128490094128490094128490094-
NM_001458.5(FLNC):c.5268T>A (p.Pro1756=)2318FLNCLikely benign1694081600RCV001481102; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128490098128490098128490098-
NM_001458.5(FLNC):c.5272C>T (p.Arg1758Trp)2318FLNCConflicting interpretations of pathogenicity369187211RCV000691370|RCV000764686|RCV001547864|RCV002343461|RCV003150332; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:6170477128490102128490102NC_000007.13:g.128490102C>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5272C>G (p.Arg1758Gly)2318FLNCUncertain significance369187211RCV001228648; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284901021284901027:g.128490102C>G-
NM_001458.5(FLNC):c.5273G>A (p.Arg1758Gln)2318FLNCConflicting interpretations of pathogenicity573984029RCV001729781|RCV001040709|RCV002348350; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284901031284901037:g.128490103G>A-
NM_001458.5(FLNC):c.5274G>A (p.Arg1758=)2318FLNCLikely benign1053977049RCV001427185; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128490104128490104128490104-
NM_001458.5(FLNC):c.5275C>T (p.Pro1759Ser)2318FLNCUncertain significance892618706RCV000704494|RCV002343553; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128490105128490105NC_000007.13:g.128490105C>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5277C>A (p.Pro1759=)2318FLNCLikely benign763698034RCV000549456; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128490107128490107NC_000007.13:g.128490107C>AClinGen:CA457582469C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5277C>T (p.Pro1759=)2318FLNCLikely benign763698034RCV000934769|RCV001731982|RCV002346116; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310|MedGen:CN517202|MedGen:CN23073671284901071284901077:g.128490107C>T-
NM_001458.5(FLNC):c.5278G>A (p.Gly1760Ser)2318FLNCConflicting interpretations of pathogenicity150986092RCV000525434|RCV001312149|RCV002350343|RCV002491080; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:00171284901081284901087:g.128490108G>AClinGen:CA4475624C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5279G>A (p.Gly1760Asp)2318FLNCUncertain significance1808741985RCV001231296; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284901091284901097:g.128490109G>A-
NM_001458.5(FLNC):c.5280C>T (p.Gly1760=)2318FLNCBenign/Likely benign563285308RCV001035344|RCV003160204; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284901101284901107:g.128490110C>T-
NM_001458.5(FLNC):c.5281G>A (p.Ala1761Thr)2318FLNCConflicting interpretations of pathogenicity376023896RCV000542736|RCV001796115|RCV002350344; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN23073671284901111284901117:g.128490111G>AClinGen:CA4475627C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5283C>T (p.Ala1761=)2318FLNCLikely benign1420967776RCV002131295; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128490113128490113128490113-
NM_001458.5(FLNC):c.5284C>T (p.Arg1762Cys)2318FLNCConflicting interpretations of pathogenicity201926772RCV000555159|RCV001034665|RCV002350345|RCV003338663; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MONDO:MONDO:00171284901141284901147:g.128490114C>TClinGen:CA4475628C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5285G>A (p.Arg1762His)2318FLNCConflicting interpretations of pathogenicity779856224RCV000699175|RCV002343510|RCV003144546; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|MedGen:C366190071284901151284901157:g.128490115G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5285G>C (p.Arg1762Pro)2318FLNCUncertain significance-1RCV002622135; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490115128490115NC_000007.13:g.128490115G>C-
NM_001458.5(FLNC):c.5289C>T (p.Pro1763=)2318FLNCLikely benign2128937979RCV002156802; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490119128490119128490119-
NM_001458.5(FLNC):c.5291C>A (p.Thr1764Lys)2318FLNCUncertain significance1585165259RCV000822801; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284901211284901217:g.128490121C>A-
NM_001458.5(FLNC):c.5295C>T (p.His1765=)2318FLNCBenign-1RCV002962411; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490125128490125-
NM_001458.5(FLNC):c.5296T>C (p.Trp1766Arg)2318FLNCUncertain significance751650734RCV000525789|RCV000768505|RCV002350346|RCV001535744|RCV002470907|RCV001591259; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|Human Phenotype Ontology:HP:0001639,MONDO:MONDO71284901261284901267:g.128490126T>CClinGen:CA4475633C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5298+6G>A2318FLNCConflicting interpretations of pathogenicity373553314RCV000252502|RCV000538230|RCV000831067; NMedGen:CN169374|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C36619007128490134128490134NC_000007.13:g.128490134G>AClinGen:CA4475634C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5298+7C>T2318FLNCLikely benign773294846RCV000608056|RCV000649268; NMedGen:CN169374|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284901351284901357:g.128490135C>TClinGen:CA4475635C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5298+7C>G2318FLNCLikely benign773294846RCV001456157; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128490135128490135128490135-
NM_001458.5(FLNC):c.5298+8G>A2318FLNCLikely benign867964395RCV001402007; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128490136128490136128490136-
NM_001458.5(FLNC):c.5298+8G>T2318FLNCLikely benign867964395RCV002211635; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490136128490136128490136-
NM_001458.5(FLNC):c.5298+9C>A2318FLNCLikely benign-1RCV002623164; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490137128490137NC_000007.13:g.128490137C>A-
NM_001458.5(FLNC):c.5298+10C>T2318FLNCLikely benign1361883369RCV001482774; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128490138128490138128490138-
NM_001458.5(FLNC):c.5298+12C>T2318FLNCLikely benign1441508309RCV002086097; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128490140128490140128490140-
NM_001458.5(FLNC):c.5298+13C>G2318FLNCLikely benign1184909389RCV002179793; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128490141128490141128490141-
NM_001458.5(FLNC):c.5298+13C>T2318FLNCLikely benign1184909389RCV002118235; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128490141128490141128490141-
NM_001458.5(FLNC):c.5298+14C>T2318FLNCLikely benign2128937990RCV002091236; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128490142128490142128490142-
NM_001458.5(FLNC):c.5298+16C>T2318FLNCLikely benign1808745487RCV002100589; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490144128490144128490144-
NM_001458.5(FLNC):c.5298+17C>G2318FLNCLikely benign947138277RCV002104817; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490145128490145128490145-
NM_001458.5(FLNC):c.5298+17C>A2318FLNCLikely benign-1RCV002736406; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490145128490145NC_000007.13:g.128490145C>A-
NM_001458.5(FLNC):c.5299-17C>G2318FLNCUncertain significance-1RCV002900040; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490421128490421NC_000007.13:g.128490421C>G-
NM_001458.5(FLNC):c.5299-16C>T2318FLNCBenign/Likely benign753681565RCV000610247|RCV002063059; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284904221284904227:g.128490422C>TClinGen:CA4475648CN169374 not specified;
NM_001458.5(FLNC):c.5299-14C>T2318FLNCLikely benign754663125RCV002102694; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128490424128490424128490424-
NM_001458.5(FLNC):c.5299-13T>A2318FLNCLikely benign2128938069RCV002075028; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128490425128490425128490425-
NM_001458.5(FLNC):c.5299-10C>T2318FLNCLikely benign2128938071RCV001395960; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128490428128490428128490428-
NM_001458.5(FLNC):c.5299-9C>T2318FLNCLikely benign1554400444RCV000649200; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490429128490429NC_000007.13:g.128490429C>TClinGen:CA457583364C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5303C>G (p.Thr1768Arg)2318FLNCUncertain significance778860499RCV001214204; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284904421284904427:g.128490442C>G-
NM_001458.5(FLNC):c.5306A>G (p.Glu1769Gly)2318FLNCUncertain significance-1RCV002810607; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490445128490445NC_000007.13:g.128490445A>G-
NM_001458.5(FLNC):c.5307G>C (p.Glu1769Asp)2318FLNCUncertain significance1808756761RCV001298672; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128490446128490446128490446-
NM_001458.5(FLNC):c.5310G>A (p.Glu1770=)2318FLNCLikely benign777868799RCV000608736|RCV001398012|RCV002350445; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN23073671284904491284904497:g.128490449G>AClinGen:CA4475653CN169374 not specified;
NM_001458.5(FLNC):c.5311C>G (p.Pro1771Ala)2318FLNCConflicting interpretations of pathogenicity200001272RCV000555502|RCV001721389|RCV002348227; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN23073671284904501284904507:g.128490450C>GClinGen:CA4475654C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5317G>A (p.Val1773Met)2318FLNCUncertain significance-1RCV002621515; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490456128490456NC_000007.13:g.128490456G>A-
NM_001458.5(FLNC):c.5320C>T (p.Pro1774Ser)2318FLNCUncertain significance370823820RCV001321589; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128490459128490459128490459-
NM_001458.5(FLNC):c.5321C>G (p.Pro1774Arg)2318FLNCUncertain significance1273796039RCV001979779; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128490460128490460128490460-
NM_001458.5(FLNC):c.5328G>A (p.Glu1776=)2318FLNCLikely benign776941739RCV002105910; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128490467128490467128490467-
NM_001458.5(FLNC):c.5331A>G (p.Pro1777=)2318FLNCLikely benign2128938084RCV001458116; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128490470128490470128490470-
NM_001458.5(FLNC):c.5332A>G (p.Met1778Val)2318FLNCUncertain significance1347090077RCV001059658|RCV002348434; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284904711284904717:g.128490471A>G-
NM_001458.5(FLNC):c.5335G>T (p.Glu1779Ter)2318FLNCPathogenic1808758208RCV001214702; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284904741284904747:g.128490474G>T-
NM_001458.5(FLNC):c.5341A>G (p.Met1781Val)2318FLNCUncertain significance540112341RCV002015918; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490480128490480128490480-
NM_001458.5(FLNC):c.5343G>A (p.Met1781Ile)2318FLNCUncertain significance1554400464RCV000649112; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490482128490482NC_000007.13:g.128490482G>AClinGen:CA369205115C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5352C>T (p.Pro1784=)2318FLNCLikely benign775978179RCV002150122; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128490491128490491128490491-
NM_001458.5(FLNC):c.5353T>A (p.Phe1785Ile)2318FLNCUncertain significance1035403005RCV000796069|RCV003307440; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284904921284904927:g.128490492T>A-
NM_001458.5(FLNC):c.5354T>C (p.Phe1785Ser)2318FLNCUncertain significance1808758860RCV001053339; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284904931284904937:g.128490493T>C-
NM_001458.5(FLNC):c.5358C>G (p.Asn1786Lys)2318FLNCUncertain significance1311819055RCV001221810; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284904971284904977:g.128490497C>G-
NM_001458.5(FLNC):c.5358C>T (p.Asn1786=)2318FLNCLikely benign-1RCV002647474; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490497128490497-
NM_001458.5(FLNC):c.5362G>T (p.Val1788Phe)2318FLNCUncertain significance1808759348RCV001224693; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284905011284905017:g.128490501G>T-
NM_001458.5(FLNC):c.5363T>G (p.Val1788Gly)2318FLNCConflicting interpretations of pathogenicity573899913RCV000693854|RCV001585630|RCV002343478; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN517202|MedGen:CN23073671284905021284905027:g.128490502T>G-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5365A>G (p.Ile1789Val)2318FLNCUncertain significance-1RCV002666905; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490504128490504NC_000007.13:g.128490504A>G-
NM_001458.5(FLNC):c.5367C>T (p.Ile1789=)2318FLNCLikely benign377214486RCV000831462|RCV001085561|RCV001700288|RCV002343340|RCV003150322; NMedGen:CN517202|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN169374|MedGen:CN2307367128490506128490506NC_000007.13:g.128490506C>TClinGen:CA4475663C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5370C>T (p.Pro1790=)2318FLNCLikely benign766344715RCV002140445; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128490509128490509128490509-
NM_001458.5(FLNC):c.5372T>A (p.Phe1791Tyr)2318FLNCUncertain significance2128938095RCV001973565; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128490511128490511128490511-
NM_001458.5(FLNC):c.5373C>T (p.Phe1791=)2318FLNCLikely benign370373860RCV000531536|RCV001584314|RCV002350347; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN23073671284905121284905127:g.128490512C>TClinGen:CA4475665C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5374G>A (p.Ala1792Thr)2318FLNCLikely benign201348102RCV000244089|RCV000649060|RCV001697720|RCV002347956|RCV003150144; NMedGen:CN169374|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN2307367128490513128490513NC_000007.13:g.128490513G>AClinGen:CA4475666C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5375C>T (p.Ala1792Val)2318FLNCConflicting interpretations of pathogenicity200233856RCV000177639|RCV000552189|RCV002345618; NMedGen:CN517202|MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284905141284905147:g.128490514C>TClinGen:CA244143C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5376G>A (p.Ala1792=)2318FLNCBenign/Likely benign758648462RCV000649101|RCV002343336; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284905151284905157:g.128490515G>AClinGen:CA4475668C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5377G>A (p.Val1793Met)2318FLNCConflicting interpretations of pathogenicity587780337RCV000117077|RCV000811021|RCV002490794|RCV003352772; NMedGen:CN517202|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MONDO:MONDO:0012289,MedGen:C1837128490516128490516NC_000007.13:g.128490516G>AClinGen:CA231117CN517202 not provided;
NM_001458.5(FLNC):c.5379G>A (p.Val1793=)2318FLNCLikely benign558457664RCV002096686; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128490518128490518128490518-
NM_001458.5(FLNC):c.5389dup (p.Glu1797fs)2318FLNCPathogenic2128938104RCV001381580; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128490524128490525128490524-
NM_001458.5(FLNC):c.5388G>C (p.Gly1796=)2318FLNCLikely benign371633189RCV001425805|RCV003160708; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128490527128490527128490527-
NM_001458.5(FLNC):c.5391G>A (p.Glu1797=)2318FLNCLikely benign-1RCV003063453; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490530128490530-
NM_001458.5(FLNC):c.5395A>C (p.Thr1799Pro)2318FLNCUncertain significance1243600050RCV001230409; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284905341284905347:g.128490534A>C-
NM_001458.5(FLNC):c.5397A>C (p.Thr1799=)2318FLNCLikely benign781322314RCV001043750|RCV002348364; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284905361284905367:g.128490536A>C-
NM_001458.5(FLNC):c.5398G>A (p.Gly1800Arg)2318FLNCUncertain significance2128938108RCV002019858; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128490537128490537128490537-
NM_001458.5(FLNC):c.5398+1G>C2318FLNCLikely pathogenic1808761665RCV001035909; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284905381284905387:g.128490538G>C-
NM_001458.5(FLNC):c.5398+6G>C2318FLNCLikely benign746415033RCV000870733|RCV001091490; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN51720271284905431284905437:g.128490543G>C-
NM_001458.5(FLNC):c.5398+12T>G2318FLNCLikely benign2128938113RCV002187860; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128490549128490549128490549-
NM_001458.5(FLNC):c.5398+16T>C2318FLNCBenign13227216RCV000249016|RCV002058056; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128490553128490553NC_000007.13:g.128490553T>CClinGen:CA4475674CN169374 not specified;
NM_001458.5(FLNC):c.5399-17C>T2318FLNCLikely benign930809365RCV001699676|RCV001703334|RCV002073282; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128490840128490840128490840-
NM_001458.5(FLNC):c.5399-12_5399-9del2318FLNCLikely benign766580034RCV002025930; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128490843128490846128490842-
NM_001458.5(FLNC):c.5399-8C>T2318FLNCLikely benign575189613RCV001465399; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490849128490849128490849-
NM_001458.5(FLNC):c.5399-8C>A2318FLNCLikely benign-1RCV002695480; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490849128490849NC_000007.13:g.128490849C>A-
NM_001458.5(FLNC):c.5399-2A>C2318FLNCLikely pathogenic2128938204RCV001973945; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128490855128490855128490855-
NM_001458.5(FLNC):c.5399-1G>A2318FLNCLikely pathogenic-1RCV003017360; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490856128490856NC_000007.13:g.128490856G>A-
NM_001458.5(FLNC):c.5407C>T (p.Arg1803Trp)2318FLNCConflicting interpretations of pathogenicity369457426RCV001296237|RCV002350520; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128490865128490865128490865-
NM_001458.5(FLNC):c.5408G>A (p.Arg1803Gln)2318FLNCConflicting interpretations of pathogenicity757482925RCV000794943|RCV002470984|RCV003353025; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|EFO:EFO_0000407,Human Phenotype Ontology:HP:00071284908661284908667:g.128490866G>A-
NM_001458.5(FLNC):c.5410A>T (p.Met1804Leu)2318FLNCConflicting interpretations of pathogenicity201949844RCV000818989|RCV001759597|RCV002345885|RCV002487818; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:00171284908681284908687:g.128490868A>T-
NM_001458.5(FLNC):c.5412G>A (p.Met1804Ile)2318FLNCLikely benign564010656RCV001350542; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128490870128490870128490870-
NM_001458.5(FLNC):c.5413C>A (p.Pro1805Thr)2318FLNCUncertain significance1808775264RCV001312349; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128490871128490871128490871-
NM_001458.5(FLNC):c.5414C>T (p.Pro1805Leu)2318FLNCUncertain significance2128938211RCV001370345; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128490872128490872128490872-
NM_001458.5(FLNC):c.5417C>T (p.Ser1806Leu)2318FLNCUncertain significance1224086145RCV001872085; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128490875128490875128490875-
NM_001458.5(FLNC):c.5418G>A (p.Ser1806=)2318FLNCConflicting interpretations of pathogenicity376078394RCV000339649|RCV001080768|RCV001699335|RCV002348027; NMedGen:C3661900|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN169374|MedGen:CN23073671284908761284908767:g.128490876G>AClinGen:CA4475691C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5426C>T (p.Thr1809Met)2318FLNCConflicting interpretations of pathogenicity369118592RCV000802678|RCV002345793|RCV003144621; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN230736|MedGen:C366190071284908841284908847:g.128490884C>T-
NM_001458.5(FLNC):c.5427G>A (p.Thr1809=)2318FLNCLikely benign774600814RCV000649271|RCV002343342|RCV003424236; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MedGen:C36619007128490885128490885NC_000007.13:g.128490885G>AClinGen:CA4475694C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5427G>C (p.Thr1809=)2318FLNCBenign/Likely benign774600814RCV000711690|RCV001080674|RCV002343585; NMedGen:CN517202|MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128490885128490885NC_000007.13:g.128490885G>C-
NM_001458.5(FLNC):c.5430_5431inv (p.Arg1811Trp)2318FLNCUncertain significance-1RCV002008390; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128490888128490889128490888-
NM_001458.5(FLNC):c.5431C>T (p.Arg1811Trp)2318FLNCUncertain significance374794518RCV001233369|RCV001546048|RCV002348785|RCV002497797; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:00171284908891284908897:g.128490889C>T-
NM_001458.5(FLNC):c.5431C>A (p.Arg1811=)2318FLNCLikely benign-1RCV002672060; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490889128490889-
NM_001458.5(FLNC):c.5432G>A (p.Arg1811Gln)2318FLNCConflicting interpretations of pathogenicity369759751RCV000706225|RCV001772008|RCV002343567|RCV002485770; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0017128490890128490890NC_000007.13:g.128490890G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5438A>G (p.Asn1813Ser)2318FLNCUncertain significance-1RCV003086225; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490896128490896NC_000007.13:g.128490896A>G-
NM_001458.5(FLNC):c.5440A>G (p.Ile1814Val)2318FLNCUncertain significance1168575419RCV002031582|RCV003334404; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|7128490898128490898128490898-
NM_001458.5(FLNC):c.5444C>T (p.Thr1815Ile)2318FLNCUncertain significance1361160043RCV001056843; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284909021284909027:g.128490902C>T-
NM_001458.5(FLNC):c.5445C>T (p.Thr1815=)2318FLNCLikely benign758995789RCV000649218|RCV001577293|RCV001796166|RCV002343341|RCV003150323; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN517202|MedGen:CN169374|MedGen:CN2307367128490903128490903NC_000007.13:g.128490903C>TClinGen:CA4475699C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5446G>A (p.Asp1816Asn)2318FLNCUncertain significance1198641168RCV001241679|RCV002348823|RCV003145465; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|MedGen:CN51720271284909041284909047:g.128490904G>A-
NM_001458.5(FLNC):c.5448CAA[1] (p.Asn1817del)2318FLNCUncertain significance1312829675RCV000649165|RCV002485459|RCV003162969; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:6170477128490905128490907NC_000007.13:g.128490906CAA[1]ClinGen:CA658797013C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5449A>T (p.Asn1817Tyr)2318FLNCUncertain significance373146637RCV000698729|RCV001662771|RCV002343506; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN517202|MedGen:CN23073671284909071284909077:g.128490907A>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5451C>G (p.Asn1817Lys)2318FLNCUncertain significance762869314RCV000813635; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284909091284909097:g.128490909C>G-
NM_001458.5(FLNC):c.5452A>C (p.Lys1818Gln)2318FLNCUncertain significance-1RCV002616094; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490910128490910NC_000007.13:g.128490910A>C-
NM_001458.5(FLNC):c.5455G>T (p.Asp1819Tyr)2318FLNCUncertain significance1808778177RCV001209896; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284909131284909137:g.128490913G>T-
NM_001458.5(FLNC):c.5455G>A (p.Asp1819Asn)2318FLNCUncertain significance1808778177RCV001326807; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128490913128490913128490913-
NM_001458.5(FLNC):c.5456A>T (p.Asp1819Val)2318FLNCUncertain significance2128938237RCV001907694; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128490914128490914128490914-
NM_001458.5(FLNC):c.5457C>T (p.Asp1819=)2318FLNCLikely benign376660713RCV000533034|RCV002350348; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284909151284909157:g.128490915C>TClinGen:CA166188129C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5458G>A (p.Gly1820Ser)2318FLNCConflicting interpretations of pathogenicity763930207RCV001964198|RCV002484860; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:6095247128490916128490916128490916-
NM_001458.5(FLNC):c.5469_5482del (p.Val1824fs)2318FLNCPathogenic1808778979RCV001048699; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284909241284909377:g.128490924_128490937del-
NM_001458.5(FLNC):c.5468C>T (p.Thr1823Met)2318FLNCConflicting interpretations of pathogenicity140857707RCV000690475|RCV001573588|RCV002343457|RCV002477552; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:0017128490926128490926NC_000007.13:g.128490926C>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5469G>A (p.Thr1823=)2318FLNCLikely benign550620019RCV000615608|RCV000875640|RCV002350481; NMedGen:CN169374|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284909271284909277:g.128490927G>AClinGen:CA4475706CN169374 not specified;
NM_001458.5(FLNC):c.5469G>C (p.Thr1823=)2318FLNCLikely benign550620019RCV001437721|RCV002346130; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN23073671284909271284909277:g.128490927G>C-
NM_001458.5(FLNC):c.5470G>A (p.Val1824Met)2318FLNCUncertain significance1808779198RCV001294759; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128490928128490928128490928-
NM_001458.5(FLNC):c.5477A>G (p.Tyr1826Cys)2318FLNCConflicting interpretations of pathogenicity756197388RCV001048238|RCV002348384|RCV003128739; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MedGen:CN51720271284909351284909357:g.128490935A>G-
NM_001458.5(FLNC):c.5478T>G (p.Tyr1826Ter)2318FLNCPathogenic/Likely pathogenic371167779RCV000760650|RCV001388295; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128490936128490936NC_000007.13:g.128490936T>G-
NM_001458.5(FLNC):c.5478T>C (p.Tyr1826=)2318FLNCLikely benign371167779RCV001405611|RCV002346108; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284909361284909367:g.128490936T>C-
NM_001458.5(FLNC):c.5483C>T (p.Pro1828Leu)2318FLNCUncertain significance2128938246RCV001973535; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128490941128490941128490941-
NM_001458.5(FLNC):c.5486C>T (p.Thr1829Ile)2318FLNCUncertain significance1585166066RCV000799112; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284909441284909447:g.128490944C>T-
NM_001458.5(FLNC):c.5489A>G (p.Glu1830Gly)2318FLNCUncertain significance-1RCV002715101; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490947128490947NC_000007.13:g.128490947A>G-
NM_001458.5(FLNC):c.5491A>G (p.Lys1831Glu)2318FLNCUncertain significance374126692RCV002026840; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128490949128490949128490949-
NM_001458.5(FLNC):c.5493A>G (p.Lys1831=)2318FLNCLikely benign-1RCV002794818; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490951128490951-
NM_001458.5(FLNC):c.5495G>T (p.Gly1832Val)2318FLNCUncertain significance1808780127RCV001349688; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128490953128490953128490953-
NM_001458.5(FLNC):c.5500C>T (p.His1834Tyr)2318FLNCConflicting interpretations of pathogenicity377141822RCV000557063|RCV002350349|RCV001532120; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MedGen:C36619007128490958128490958NC_000007.13:g.128490958C>TClinGen:CA4475711C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5505G>C (p.Gln1835His)2318FLNCUncertain significance-1RCV002302337; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128490963128490963128490963-
NM_001458.5(FLNC):c.5506A>C (p.Met1836Leu)2318FLNCUncertain significance1808780678RCV001037201|RCV003363053; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN23073671284909641284909647:g.128490964A>C-
NM_001458.5(FLNC):c.5508G>A (p.Met1836Ile)2318FLNCUncertain significance1175006964RCV001060124; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284909661284909667:g.128490966G>A-
NM_001458.5(FLNC):c.5517G>A (p.Lys1839=)2318FLNCLikely benign779185071RCV000981496; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284909751284909757:g.128490975G>A-
NM_001458.5(FLNC):c.5518T>A (p.Tyr1840Asn)2318FLNCUncertain significance-1RCV002620248; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490976128490976NC_000007.13:g.128490976T>A-
NM_001458.5(FLNC):c.5520T>A (p.Tyr1840Ter)2318FLNCPathogenic1808781579RCV001382707; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128490978128490978128490978-
NM_001458.5(FLNC):c.5520T>C (p.Tyr1840=)2318FLNCLikely benign1808781579RCV001482003; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128490978128490978128490978-
NM_001458.5(FLNC):c.5523C>T (p.Asp1841=)2318FLNCConflicting interpretations of pathogenicity748504948RCV000938808|RCV002346133; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284909811284909817:g.128490981C>T-
NM_001458.5(FLNC):c.5524G>A (p.Gly1842Ser)2318FLNCUncertain significance756880490RCV001219665|RCV002280169; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN51720271284909821284909827:g.128490982G>A-
NM_001458.5(FLNC):c.5530C>T (p.His1844Tyr)2318FLNCUncertain significance-1RCV003041950; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128490988128490988NC_000007.13:g.128490988C>T-
NM_001458.5(FLNC):c.5537C>T (p.Pro1846Leu)2318FLNCUncertain significance1408298919RCV000533089|RCV002350350|RCV003144356; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MedGen:CN51720271284909951284909957:g.128490995C>TClinGen:CA369207098C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5539+10GGGCT[4]2318FLNCLikely benign752668700RCV000945800; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284910061284910077:g.128491006_128491007insGGGCT-
NM_001458.5(FLNC):c.5539+10GGGCT[2]2318FLNCLikely benign752668700RCV002204613; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128491007128491011128491006-
NM_001458.5(FLNC):c.5539+15G>A2318FLNCLikely benign967007657RCV002159192; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128491012128491012128491012-
NM_001458.5(FLNC):c.5539+16G>T2318FLNCLikely benign-1RCV003038998; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128491013128491013NC_000007.13:g.128491013G>T-
NM_001458.5(FLNC):c.5540-20C>T2318FLNCBenign556203733RCV001647764|RCV002072978; NMedGen:C3661900|MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128491266128491266128491266-
NM_001458.5(FLNC):c.5540-19T>C2318FLNCLikely benign2128938346RCV002091439; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128491267128491267128491267-
NM_001458.5(FLNC):c.5540-11T>C2318FLNCLikely benign773637016RCV002130994; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128491275128491275128491275-
NM_001458.5(FLNC):c.5540-8A>G2318FLNCLikely benign760965562RCV002121182; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128491278128491278128491278-
NM_001458.5(FLNC):c.5540-6C>G2318FLNCUncertain significance201335006RCV000545855|RCV003150272; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|Human Phenotype Ontology:HP:0001638,MONDO:MONDO71284912801284912807:g.128491280C>GClinGen:CA4475731C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5540-6C>A2318FLNCLikely benign201335006RCV000696566; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284912801284912807:g.128491280C>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5540-5C>T2318FLNCLikely benign2128938350RCV001487610; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128491281128491281128491281-
NM_001458.5(FLNC):c.5540-2A>G2318FLNCLikely pathogenic111477195RCV002007904; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128491284128491284128491284-
NM_001458.5(FLNC):c.5544C>T (p.Ser1848=)2318FLNCConflicting interpretations of pathogenicity1350503435RCV000937650|RCV001431028|RCV002346125; NMedGen:CN517202|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310|MedGen:CN23073671284912901284912907:g.128491290C>T-
NM_001458.5(FLNC):c.5545C>A (p.Pro1849Thr)2318FLNCUncertain significance1808798354RCV001048235; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284912911284912917:g.128491291C>A-
NM_001458.5(FLNC):c.5550A>G (p.Leu1850=)2318FLNCLikely benign-1RCV002746056; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128491296128491296-
NM_001458.5(FLNC):c.5557del (p.Tyr1853fs)2318FLNCPathogenic2128938355RCV001387424; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128491303128491303128491302-
NM_001458.5(FLNC):c.5560G>C (p.Val1854Leu)2318FLNCUncertain significance-1RCV002933102; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128491306128491306NC_000007.13:g.128491306G>C-
NM_001458.5(FLNC):c.5560G>A (p.Val1854Met)2318FLNCUncertain significance-1RCV003046710; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128491306128491306NC_000007.13:g.128491306G>A-
NM_001458.5(FLNC):c.5564A>T (p.Asp1855Val)2318FLNCUncertain significance-1RCV002607386; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128491310128491310NC_000007.13:g.128491310A>T-
NM_001458.5(FLNC):c.5569_5578del (p.Ile1857fs)2318FLNCPathogenic2128938360RCV001384199; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128491312128491321128491311-
NM_001458.5(FLNC):c.5568C>G (p.Ala1856=)2318FLNCLikely benign1554400651RCV000558257; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284913141284913147:g.128491314C>GClinGen:CA457849025C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys)2318FLNCBenign/Likely benign181067717RCV000177767|RCV000545493|RCV001082895|RCV002345619; NMedGen:CN169374|MedGen:C3661900|MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284913241284913247:g.128491324C>TClinGen:CA202624C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5579G>A (p.Arg1860His)2318FLNCConflicting interpretations of pathogenicity1019973830RCV000484170|RCV000649140|RCV002350077; NMedGen:CN517202|MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284913251284913257:g.128491325G>AClinGen:CA16618354C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5580C>G (p.Arg1860=)2318FLNCLikely benign955205184RCV002123144|RCV002494390; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:6095247128491326128491326128491326-
NM_001458.5(FLNC):c.5583T>C (p.His1861=)2318FLNCLikely benign777992233RCV001455688; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128491329128491329128491329-
NM_001458.5(FLNC):c.5588G>A (p.Ser1863Asn)2318FLNCUncertain significance1224825896RCV002020229; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128491334128491334128491334-
NM_001458.5(FLNC):c.5592C>T (p.Ala1864=)2318FLNCBenign117517372RCV000117078|RCV000534583|RCV002345418; NMedGen:CN169374|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN23073671284913381284913387:g.128491338C>TClinGen:CA152868C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5598G>A (p.Gly1866=)2318FLNCBenign/Likely benign-1RCV002344845|RCV003096802; NMedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128491344128491344-
NM_001458.5(FLNC):c.5605C>T (p.Leu1869=)2318FLNCLikely benign916680913RCV002201442; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128491351128491351128491351-
NM_001458.5(FLNC):c.5607G>C (p.Leu1869=)2318FLNCLikely benign2128938380RCV002102046; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128491353128491353128491353-
NM_001458.5(FLNC):c.5613_5635del (p.Gly1872fs)2318FLNCPathogenic2128938382RCV001901260; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128491354128491376128491353-
NM_001458.5(FLNC):c.5618T>A (p.Met1873Lys)2318FLNCUncertain significance1808801511RCV001053861; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284913641284913647:g.128491364T>A-
NM_001458.5(FLNC):c.5624A>G (p.Asn1875Ser)2318FLNCUncertain significance1808801761RCV001344112|RCV003284233; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128491370128491370128491370-
NM_001458.5(FLNC):c.5625C>T (p.Asn1875=)2318FLNCLikely benign2128938386RCV002217397; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128491371128491371128491371-
NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val)2318FLNCConflicting interpretations of pathogenicity184018403RCV000269975|RCV000725969|RCV001083752|RCV002348011|RCV003150152; NMedGen:CN169374|MedGen:C3661900|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284913901284913907:g.128491390A>GClinGen:CA4475740C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5653A>T (p.Lys1885Ter)2318FLNCPathogenic1563001456RCV000687879; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128491399128491399NC_000007.13:g.128491399A>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5657A>G (p.Asp1886Gly)2318FLNCLikely benign771960952RCV001321341; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128491403128491403128491403-
NM_001458.5(FLNC):c.5665del (p.Glu1889fs)2318FLNCPathogenic2128938391RCV001385781; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128491411128491411128491410-
NM_001458.5(FLNC):c.5666A>G (p.Glu1889Gly)2318FLNCUncertain significance-1RCV002588420; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128491412128491412NC_000007.13:g.128491412A>G-
NM_001458.5(FLNC):c.5668G>T (p.Gly1890Trp)2318FLNCUncertain significance1808803000RCV001996889; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128491414128491414128491414-
NM_001458.5(FLNC):c.5668+3G>A2318FLNCUncertain significance1563001474RCV002022409|RCV002346274; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128491417128491417128491417-
NM_001458.5(FLNC):c.5668+4A>C2318FLNCUncertain significance1259876470RCV000649093|RCV003162966; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284914181284914187:g.128491418A>CClinGen:CA658797014C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5668+6G>A2318FLNCUncertain significance773119692RCV000649068; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284914201284914207:g.128491420G>AClinGen:CA4475744C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5668+8A>C2318FLNCLikely benign2128938396RCV002184888; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128491422128491422128491422-
NM_001458.5(FLNC):c.5668+15G>A2318FLNCLikely benign766668215RCV002112487; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128491429128491429128491429-
NM_001458.5(FLNC):c.5668+16G>T2318FLNCLikely benign-1RCV003082495; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128491430128491430NC_000007.13:g.128491430G>T-
NM_001458.5(FLNC):c.5668+18C>T2318FLNCLikely benign540465449RCV002104674; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128491432128491432128491432-
NM_001458.5(FLNC):c.5668+18C>A2318FLNCLikely benign-1RCV002938797; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128491432128491432NC_000007.13:g.128491432C>A-
NM_001458.5(FLNC):c.5668+19G>A2318FLNCLikely benign-1RCV002947255; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128491433128491433NC_000007.13:g.128491433G>A-
NM_001458.5(FLNC):c.5669-13C>T2318FLNCLikely benign375339065RCV002150018; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128491496128491496128491496-
NM_001458.5(FLNC):c.5669-12C>T2318FLNCBenign79790270RCV000245106|RCV001795443|RCV002058057; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284914971284914977:g.128491497C>TClinGen:CA4475760CN169374 not specified;
NM_001458.5(FLNC):c.5669-10C>T2318FLNCLikely benign371394538RCV000951376; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284914991284914997:g.128491499C>T-
NM_001458.5(FLNC):c.5669-9C>T2318FLNCLikely benign374651908RCV000945564; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284915001284915007:g.128491500C>T-
NM_001458.5(FLNC):c.5669-8A>T2318FLNCLikely benign-1RCV003092392; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128491501128491501NC_000007.13:g.128491501A>T-
NM_001458.5(FLNC):c.5669-1del2318FLNCPathogenic1563001548RCV000686980|RCV003235349; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:6170477128491508128491508OMIM:102565.0014
NM_001458.5(FLNC):c.5670G>A (p.Gly1890=)2318FLNCConflicting interpretations of pathogenicity369881758RCV000878550|RCV001823749|RCV002346042; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN169374|MedGen:CN23073671284915101284915107:g.128491510G>A-
NM_001458.5(FLNC):c.5671G>T (p.Gly1891Cys)2318FLNCUncertain significance2128938427RCV001995923; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128491511128491511128491511-
NM_001458.5(FLNC):c.5675_5678del (p.Leu1892fs)2318FLNCPathogenic1585166614RCV000818175; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284915121284915157:g.128491512_128491515del-
NM_001458.5(FLNC):c.5672G>A (p.Gly1891Asp)2318FLNCUncertain significance1808808728RCV001983362; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128491512128491512128491512-
NM_001458.5(FLNC):c.5672G>T (p.Gly1891Val)2318FLNCUncertain significance-1RCV003052270; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128491512128491512NC_000007.13:g.128491512G>T-
NM_001458.5(FLNC):c.5677_5682del (p.Ser1893_Leu1894del)2318FLNCUncertain significance1425063581RCV001321089; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128491514128491519128491513-
NM_001458.5(FLNC):c.5676dup (p.Ser1893fs)2318FLNCPathogenic-1RCV002999735; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128491515128491516NC_000007.13:g.128491516dup-
NM_001458.5(FLNC):c.5676G>A (p.Leu1892=)2318FLNCLikely benign1479099872RCV002122051; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128491516128491516128491516-
NM_001458.5(FLNC):c.5683G>C (p.Ala1895Pro)2318FLNCUncertain significance2128938435RCV001942440; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128491523128491523128491523-
NM_001458.5(FLNC):c.5685del (p.Val1896fs)2318FLNCPathogenic/Likely pathogenic1808809268RCV001256680|RCV002568754; NMONDO:MONDO:0100042,MedGen:C0264886,OMIM:115080, Orphanet:871|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047,O71284915241284915247:g.128491524_128491524del-
NM_001458.5(FLNC):c.5685C>T (p.Ala1895=)2318FLNCLikely benign1219372997RCV001425662|RCV002350834; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128491525128491525128491525-
NM_001458.5(FLNC):c.5686G>A (p.Val1896Met)2318FLNCConflicting interpretations of pathogenicity891651799RCV000649144|RCV000788647|RCV002343338; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN517202|MedGen:CN2307367128491526128491526NC_000007.13:g.128491526G>AClinGen:CA166188974C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5693G>A (p.Gly1898Asp)2318FLNCUncertain significance1808809802RCV001313732; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128491533128491533128491533-
NM_001458.5(FLNC):c.5697dup (p.Ser1900fs)2318FLNCPathogenic1554400700RCV000649181; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284915361284915377:g.128491536_128491537insAClinGen:CA658797015C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5696C>T (p.Pro1899Leu)2318FLNCUncertain significance-1RCV002580851; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128491536128491536NC_000007.13:g.128491536C>T-
NM_001458.5(FLNC):c.5697A>G (p.Pro1899=)2318FLNCLikely benign1585166641RCV000982123; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284915371284915377:g.128491537A>G-
NM_001458.5(FLNC):c.5700_5701insTGT (p.Ser1900_Lys1901insCys)2318FLNCUncertain significance-1RCV002823958; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128491540128491541NC_000007.13:g.128491540_128491541insTGT-
NM_001458.5(FLNC):c.5703G>A (p.Lys1901=)2318FLNCLikely benign1440069448RCV001858594; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284915431284915437:g.128491543G>A-
NM_001458.5(FLNC):c.5709G>A (p.Glu1903=)2318FLNCLikely benign1279073825RCV000649243; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128491549128491549NC_000007.13:g.128491549G>AClinGen:CA457849154C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5709G>T (p.Glu1903Asp)2318FLNCUncertain significance1279073825RCV001066422; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284915491284915497:g.128491549G>T-
NM_001458.5(FLNC):c.5713A>G (p.Thr1905Ala)2318FLNCUncertain significance1808810815RCV001317176; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128491553128491553128491553-
NM_001458.5(FLNC):c.5716T>C (p.Cys1906Arg)2318FLNCUncertain significance1585166667RCV000811016; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284915561284915567:g.128491556T>C-
NM_001458.5(FLNC):c.5724CAA[1] (p.Asn1909del)2318FLNCUncertain significance780830196RCV001037718; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284915631284915657:g.128491563_128491565del-
NM_001458.5(FLNC):c.5723A>C (p.Asp1908Ala)2318FLNCUncertain significance2128938447RCV001373935; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128491563128491563128491563-
NM_001458.5(FLNC):c.5724C>A (p.Asp1908Glu)2318FLNCUncertain significance2128938449RCV001983204|RCV002344120; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128491564128491564128491564-
NM_001458.5(FLNC):c.5727C>T (p.Asn1909=)2318FLNCLikely benign771291072RCV001464164; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128491567128491567128491567-
NM_001458.5(FLNC):c.5727C>A (p.Asn1909Lys)2318FLNCUncertain significance-1RCV003054775; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128491567128491567NC_000007.13:g.128491567C>A-
NM_001458.5(FLNC):c.5733dup (p.Gly1912fs)2318FLNCPathogenic2128938455RCV001383974; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128491572128491573128491572-
NM_001458.5(FLNC):c.5733T>C (p.Asp1911=)2318FLNCLikely benign-1RCV002917254; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128491573128491573-
NM_001458.5(FLNC):c.5736C>A (p.Gly1912=)2318FLNCLikely benign-1RCV002770140; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128491576128491576-
NM_001458.5(FLNC):c.5742C>T (p.Cys1914=)2318FLNCLikely benign1808812204RCV001413796; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128491582128491582128491582-
NM_001458.5(FLNC):c.5745C>T (p.Thr1915=)2318FLNCLikely benign369449907RCV002068680|RCV002346109; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284915851284915857:g.128491585C>T-
NM_001458.5(FLNC):c.5745C>G (p.Thr1915=)2318FLNCLikely benign369449907RCV002192517; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128491585128491585128491585-
NM_001458.5(FLNC):c.5746G>A (p.Val1916Met)2318FLNCConflicting interpretations of pathogenicity763551371RCV000693748|RCV003144523; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN51720271284915861284915867:g.128491586G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5750C>G (p.Ser1917Cys)2318FLNCUncertain significance-1RCV003031818; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128491590128491590NC_000007.13:g.128491590C>G-
NM_001458.5(FLNC):c.5753A>G (p.Tyr1918Cys)2318FLNCUncertain significance1808812647RCV001325767; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128491593128491593128491593-
NM_001458.5(FLNC):c.5754T>C (p.Tyr1918=)2318FLNCLikely benign764539989RCV000535762; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284915941284915947:g.128491594T>CClinGen:CA4475771C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5754T>A (p.Tyr1918Ter)2318FLNCPathogenic/Likely pathogenic764539989RCV000598899|RCV001854127; NMedGen:CN517202|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284915941284915947:g.128491594T>AClinGen:CA369208313CN517202 not provided;
NM_001458.5(FLNC):c.5758C>A (p.Pro1920Thr)2318FLNCUncertain significance751937921RCV001317230|RCV001587337|RCV002350582; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN517202|MedGen:CN2307367128491598128491598128491598-
NM_001458.5(FLNC):c.5760G>A (p.Pro1920=)2318FLNCLikely benign375912712RCV000952125|RCV002346159; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284916001284916007:g.128491600G>A-
NM_001458.5(FLNC):c.5763T>C (p.Thr1921=)2318FLNCBenign3816884RCV000117079|RCV000711691|RCV001520071|RCV002354299; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN23073671284916031284916037:g.128491603T>CClinGen:CA152871CN169374 not specified;
NM_001458.5(FLNC):c.5763_5764inv (p.Ala1922Thr)2318FLNCConflicting interpretations of pathogenicity-1RCV000547380|RCV001508595|RCV002358571; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN2307367128491603128491604NC_000007.13:g.128491603_128491604invClinGen:CA658657723C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5763del (p.Ala1922fs)2318FLNCPathogenic-1RCV003055368; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128491603128491603NC_000007.13:g.128491603del-
NM_001458.5(FLNC):c.5764G>A (p.Ala1922Thr)2318FLNCBenign202128602RCV000355985|RCV000842225|RCV001078596|RCV002356383; NMedGen:CN169374|MedGen:C3661900|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284916041284916047:g.128491604G>AClinGen:CA4475776CN169374 not specified;
NM_001458.5(FLNC):c.5765C>T (p.Ala1922Val)2318FLNCConflicting interpretations of pathogenicity377206490RCV001916797|RCV002352586|RCV003150470; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|Human Phenotype Ontology:HP:0007128491605128491605128491605-
NM_001458.5(FLNC):c.5766G>A (p.Ala1922=)2318FLNCBenign/Likely benign58914363RCV000241629|RCV000527971|RCV001697721|RCV002356345; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C3661900|MedGen:CN2307367128491606128491606NC_000007.13:g.128491606G>AClinGen:CA4475779C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5770G>A (p.Gly1924Arg)2318FLNCUncertain significance1585166739RCV000810473|RCV002352405; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284916101284916107:g.128491610G>A-
NM_001458.5(FLNC):c.5776T>G (p.Tyr1926Asp)2318FLNCUncertain significance1808814546RCV001203874; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284916161284916167:g.128491616T>G-
NM_001458.5(FLNC):c.5777A>G (p.Tyr1926Cys)2318FLNCConflicting interpretations of pathogenicity376653815RCV000540690|RCV002358572; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128491617128491617NC_000007.13:g.128491617A>GClinGen:CA4475780C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5779A>G (p.Ser1927Gly)2318FLNCUncertain significance369518785RCV001876877|RCV003325586; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C36619007128491619128491619128491619-
NM_001458.5(FLNC):c.5787C>T (p.Ile1929=)2318FLNCLikely benign377063332RCV000649210|RCV001698104|RCV002358716; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|MedGen:CN23073671284916271284916277:g.128491627C>TClinGen:CA4475782C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5788G>A (p.Val1930Met)2318FLNCUncertain significance370076553RCV001297384; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128491628128491628128491628-
NM_001458.5(FLNC):c.5789_5790del (p.Val1930fs)2318FLNCPathogenic-1RCV002972324; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128491628128491629NC_000007.13:g.128491629_128491630del-
NM_001458.5(FLNC):c.5791C>T (p.Arg1931Cys)2318FLNCConflicting interpretations of pathogenicity562155863RCV000519642|RCV000649148|RCV002358418; NMedGen:CN517202|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN23073671284916311284916317:g.128491631C>TClinGen:CA4475785C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5792G>A (p.Arg1931His)2318FLNCUncertain significance780685346RCV000548628|RCV000764687|RCV001755877; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:60952471284916321284916327:g.128491632G>AClinGen:CA369208463C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5792G>T (p.Arg1931Leu)2318FLNCConflicting interpretations of pathogenicity780685346RCV000649159|RCV001662705|RCV002358860; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|MedGen:CN23073671284916321284916327:g.128491632G>TClinGen:CA4475786C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5793C>G (p.Arg1931=)2318FLNCLikely benign374631384RCV000649098; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284916331284916337:g.128491633C>GClinGen:CA457849245C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5793C>T (p.Arg1931=)2318FLNCLikely benign374631384RCV001429002; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128491633128491633128491633-
NM_001458.5(FLNC):c.5796C>T (p.Phe1932=)2318FLNCLikely benign572337697RCV000524914|RCV002358573; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284916361284916367:g.128491636C>TClinGen:CA4475788C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5797G>A (p.Asp1933Asn)2318FLNCUncertain significance762297336RCV000649078; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128491637128491637NC_000007.13:g.128491637G>AClinGen:CA4475790C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5803A>G (p.Lys1935Glu)2318FLNCUncertain significance1808817011RCV001216669; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284916431284916437:g.128491643A>G-
NM_001458.5(FLNC):c.5805G>A (p.Lys1935=)2318FLNCLikely benign759262897RCV000499808|RCV000874221|RCV002358386; NMedGen:CN169374|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128491645128491645NC_000007.13:g.128491645G>AClinGen:CA4475792CN169374 not specified;
NM_001458.5(FLNC):c.5807A>C (p.His1936Pro)2318FLNCUncertain significance1454768847RCV001041022; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284916471284916477:g.128491647A>C-
NM_001458.5(FLNC):c.5808C>T (p.His1936=)2318FLNCLikely benign2128938491RCV002072841; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128491648128491648128491648-
NM_001458.5(FLNC):c.5810T>A (p.Ile1937Asn)2318FLNCConflicting interpretations of pathogenicity1585166795RCV000788797|RCV001373811; NMedGen:CN517202|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN23931071284916501284916507:g.128491650T>A-
NM_001458.5(FLNC):c.5813C>T (p.Pro1938Leu)2318FLNCUncertain significance764747370RCV000649065; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128491653128491653NC_000007.13:g.128491653C>TClinGen:CA369208563C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5814G>A (p.Pro1938=)2318FLNCLikely benign752263141RCV001481309|RCV002354853; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310|MedGen:CN23073671284916541284916547:g.128491654G>A-
NM_001458.5(FLNC):c.5814G>C (p.Pro1938=)2318FLNCLikely benign752263141RCV001499415; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128491654128491654128491654-
NM_001458.5(FLNC):c.5819G>T (p.Ser1940Ile)2318FLNCUncertain significance2128938494RCV002019046; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128491659128491659128491659-
NM_001458.5(FLNC):c.5822C>T (p.Pro1941Leu)2318FLNCUncertain significance1808818042RCV001034967; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284916621284916627:g.128491662C>T-
NM_001458.5(FLNC):c.5823C>T (p.Pro1941=)2318FLNCLikely benign-1RCV002602679; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128491663128491663-
NM_001458.5(FLNC):c.5826C>G (p.Phe1942Leu)2318FLNCUncertain significance567779611RCV001364951; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128491666128491666128491666-
NM_001458.5(FLNC):c.5826C>T (p.Phe1942=)2318FLNCLikely benign567779611RCV002110565; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128491666128491666128491666-
NM_001458.5(FLNC):c.5828C>T (p.Thr1943Ile)2318FLNCUncertain significance376413798RCV000541901|RCV002358574|RCV002470908|RCV003150273|RCV003144357; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MONDO:MONDO:0014883,MedGen:C43171284916681284916687:g.128491668C>TClinGen:CA4475796C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5829A>G (p.Thr1943=)2318FLNCLikely benign2128938497RCV002088581|RCV002352833; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128491669128491669128491669-
NM_001458.5(FLNC):c.5832C>A (p.Ala1944=)2318FLNCLikely benign-1RCV002886281; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128491672128491672-
NM_001458.5(FLNC):c.5836A>G (p.Ile1946Val)2318FLNCUncertain significance2128938499RCV001894088; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128491676128491676128491676-
NM_001458.5(FLNC):c.5837T>C (p.Ile1946Thr)2318FLNCUncertain significance1808818903RCV001059987; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284916771284916777:g.128491677T>C-
NM_001458.5(FLNC):c.5842+1G>A2318FLNCLikely pathogenic2128938502RCV002006519; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128491683128491683128491683-
NM_001458.5(FLNC):c.5842+2T>G2318FLNCLikely pathogenic2128938503RCV001379398; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128491684128491684128491684-
NM_001458.5(FLNC):c.5842+3G>A2318FLNCUncertain significance2128938504RCV001939044; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128491685128491685128491685-
NM_001458.5(FLNC):c.5842+5G>C2318FLNCUncertain significance1254947768RCV001955485; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128491687128491687128491687-
NM_001458.5(FLNC):c.5842+6G>A2318FLNCUncertain significance1010018310RCV001212010; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284916881284916887:g.128491688G>A-
NM_001458.5(FLNC):c.5842+7C>T2318FLNCLikely benign370905549RCV000875636; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284916891284916897:g.128491689C>T-
NM_001458.5(FLNC):c.5842+8G>A2318FLNCBenign/Likely benign781168906RCV000554648|RCV003311841; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C366190071284916901284916907:g.128491690G>AClinGen:CA4475799C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5842+11T>G2318FLNCLikely benign998829059RCV002015075; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128491693128491693128491693-
NM_001458.5(FLNC):c.5842+12G>A2318FLNCLikely benign745604311RCV002166785|RCV002498114; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:6170477128491694128491694128491694-
NM_001458.5(FLNC):c.5842+13T>A2318FLNCLikely benign-1RCV002806842; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128491695128491695NC_000007.13:g.128491695T>A-
NM_001458.5(FLNC):c.5842+14A>T2318FLNCLikely benign-1RCV002620341; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128491696128491696NC_000007.13:g.128491696A>T-
NM_001458.5(FLNC):c.5842+17G>A2318FLNCBenign/Likely benign374289007RCV000605442|RCV002066634; NMedGen:CN169374|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284916991284916997:g.128491699G>AClinGen:CA4475802CN169374 not specified;
NM_001458.5(FLNC):c.5842+20A>G2318FLNCLikely benign749524553RCV002136248; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128491702128491702128491702-
NM_001458.5(FLNC):c.5843-17C>T2318FLNCLikely benign-1RCV003034432; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128492628128492628NC_000007.13:g.128492628C>T-
NC_000007.14:g.(?_128852581)_(128858533_?)del2318FLNCUncertain significance-1RCV000808635; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128492635128498587-
NM_001458.5(FLNC):c.5843-10C>G2318FLNCLikely benign-1RCV002877111; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128492635128492635NC_000007.13:g.128492635C>G-
NM_001458.5(FLNC):c.5843-7C>T2318FLNCLikely benign749562962RCV002178885; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128492638128492638128492638-
NM_001458.5(FLNC):c.5843-6C>G2318FLNCBenign370264663RCV000921462; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN23931071284926391284926397:g.128492639C>G-
NM_001458.5(FLNC):c.5843-4C>T2318FLNCLikely benign2128938764RCV002210415; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128492641128492641128492641-
NM_001458.5(FLNC):c.5843-2A>G2318FLNCConflicting interpretations of pathogenicity1808866340RCV001046766|RCV002355020; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284926431284926437:g.128492643A>G-
NM_001458.5(FLNC):c.5847T>C (p.Asp1949=)2318FLNCLikely benign2128938766RCV001468150; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128492649128492649128492649-
NM_001458.5(FLNC):c.5849A>G (p.Asp1950Gly)2318FLNCUncertain significance-1RCV002610486; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128492651128492651NC_000007.13:g.128492651A>G-
NM_001458.5(FLNC):c.5850C>T (p.Asp1950=)2318FLNCLikely benign778996119RCV001496405; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128492652128492652128492652-
NM_001458.5(FLNC):c.5854A>G (p.Met1952Val)2318FLNCUncertain significance-1RCV002297476; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128492656128492656128492656-
NM_001458.5(FLNC):c.5866C>T (p.Gln1956Ter)2318FLNCPathogenic2128938768RCV001921308; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128492668128492668128492668-
NM_001458.5(FLNC):c.5872A>T (p.Asn1958Tyr)2318FLNCUncertain significance567595947RCV000542213; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284926741284926747:g.128492674A>TClinGen:CA166189848C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5882C>T (p.Thr1961Ile)2318FLNCUncertain significance1808867682RCV001223164; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284926841284926847:g.128492684C>T-
NM_001458.5(FLNC):c.5882C>G (p.Thr1961Ser)2318FLNCUncertain significance-1RCV003007611; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128492684128492684NC_000007.13:g.128492684C>G-
NM_001458.5(FLNC):c.5888C>T (p.Thr1963Met)2318FLNCConflicting interpretations of pathogenicity772580545RCV000687414|RCV001528483|RCV002352124|RCV002470951; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:00171284926901284926907:g.128492690C>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5888C>A (p.Thr1963Lys)2318FLNCUncertain significance772580545RCV001051666; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284926901284926907:g.128492690C>A-
NM_001458.5(FLNC):c.5889_5896dup (p.Ser1966fs)2318FLNCPathogenic-1RCV002819860; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128492690128492691NC_000007.13:g.128492691_128492698dup-
NM_001458.5(FLNC):c.5889G>A (p.Thr1963=)2318FLNCBenign/Likely benign374743518RCV000827168|RCV001083683|RCV002358862|RCV002507114; NMedGen:C3661900|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MONDO:MONDO:0017128492691128492691NC_000007.13:g.128492691G>AClinGen:CA4475826C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5892C>T (p.Asp1964=)2318FLNCBenign/Likely benign747546440RCV000529774|RCV001653909|RCV002358575; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN2307367128492694128492694NC_000007.13:g.128492694C>TClinGen:CA4475827C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5893G>A (p.Val1965Met)2318FLNCUncertain significance771255247RCV001052764; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284926951284926957:g.128492695G>A-
NM_001458.5(FLNC):c.5894T>G (p.Val1965Gly)2318FLNCUncertain significance1585167670RCV000823509; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284926961284926967:g.128492696T>G-
NM_001458.5(FLNC):c.5895G>C (p.Val1965=)2318FLNCLikely benign2128938778RCV001423668; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128492697128492697128492697-
NM_001458.5(FLNC):c.5904dup (p.Ile1969fs)2318FLNCPathogenic1585167678RCV000793322; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN23931071284927051284927067:g.128492705_128492706insG-
NM_001458.5(FLNC):c.5903A>C (p.Lys1968Thr)2318FLNCConflicting interpretations of pathogenicity777028481RCV001323703|RCV002357159; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128492705128492705128492705-
NM_001458.5(FLNC):c.5906T>C (p.Ile1969Thr)2318FLNCUncertain significance-1RCV003015882; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128492708128492708NC_000007.13:g.128492708T>C-
NM_001458.5(FLNC):c.5909C>T (p.Thr1970Ile)2318FLNCUncertain significance1563002254RCV000693412; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128492711128492711NC_000007.13:g.128492711C>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5910C>T (p.Thr1970=)2318FLNCBenign/Likely benign544613263RCV000554965|RCV001692181|RCV002358576; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:C3661900|MedGen:CN23073671284927121284927127:g.128492712C>TClinGen:CA4475831C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5911G>A (p.Glu1971Lys)2318FLNCUncertain significance-1RCV003095428; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128492713128492713NC_000007.13:g.128492713G>A-
NM_001458.5(FLNC):c.5913G>A (p.Glu1971=)2318FLNCLikely benign368751662RCV000649234|RCV002358865; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128492715128492715NC_000007.13:g.128492715G>AClinGen:CA4475832C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5915G>A (p.Ser1972Asn)2318FLNCUncertain significance761342219RCV001338336|RCV003294326; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128492717128492717128492717-
NM_001458.5(FLNC):c.5919T>A (p.Asp1973Glu)2318FLNCUncertain significance767053963RCV001888672|RCV003146303; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C36619007128492721128492721128492721-
NM_001458.5(FLNC):c.5920_5921del (p.Leu1974fs)2318FLNCPathogenic-1RCV003028803; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128492721128492722NC_000007.13:g.128492722_128492723del-
NM_001458.5(FLNC):c.5922G>T (p.Leu1974=)2318FLNCLikely benign370900824RCV000879444|RCV002354712; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284927241284927247:g.128492724G>T-
NM_001458.5(FLNC):c.5935G>A (p.Ala1979Thr)2318FLNCConflicting interpretations of pathogenicity766127245RCV001041652|RCV001585940|RCV002481889; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN517202|MONDO:MONDO:0013550,MedGen:C32771284927371284927377:g.128492737G>A-
NM_001458.5(FLNC):c.5940C>T (p.Ser1980=)2318FLNCLikely benign-1RCV003072957; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128492742128492742NC_000007.13:g.128492742C>T-
NM_001458.5(FLNC):c.5941A>G (p.Ile1981Val)2318FLNCUncertain significance1808870602RCV001319077; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128492743128492743128492743-
NM_001458.5(FLNC):c.5944C>T (p.Arg1982Cys)2318FLNCConflicting interpretations of pathogenicity538779271RCV000878205|RCV002354708|RCV003145224; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MedGen:C366190071284927461284927467:g.128492746C>T-
NM_001458.5(FLNC):c.5945G>A (p.Arg1982His)2318FLNCUncertain significance375046429RCV001071542|RCV003425915|RCV003259085; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310|MedGen:C3661900|MeSH:D030342,MedGen:C095012371284927471284927477:g.128492747G>A-
NM_001458.5(FLNC):c.5954C>T (p.Ser1985Leu)2318FLNCConflicting interpretations of pathogenicity200415625RCV000649090|RCV000998922|RCV001089626|RCV002358857|RCV003420136; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|Human Phenotype Ontology:HP:00071284927561284927567:g.128492756C>TClinGen:CA4475842C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5955G>A (p.Ser1985=)2318FLNCConflicting interpretations of pathogenicity777895128RCV000706138|RCV000762482|RCV002352215; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C3661900|MedGen:CN23073671284927571284927577:g.128492757G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5961C>T (p.Asn1987=)2318FLNCLikely benign747515045RCV001395302|RCV002357311; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128492763128492763128492763-
NM_001458.5(FLNC):c.5962G>A (p.Glu1988Lys)2318FLNCUncertain significance1288953274RCV001066452|RCV002355085; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284927641284927647:g.128492764G>A-
NM_001458.5(FLNC):c.5967G>A (p.Glu1989=)2318FLNCLikely benign2128938808RCV002149798; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128492769128492769128492769-
NM_001458.5(FLNC):c.5978T>G (p.Leu1993Arg)2318FLNCUncertain significance1808872550RCV001066737|RCV001772296; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN51720271284927801284927807:g.128492780T>G-
NM_001458.5(FLNC):c.5979G>T (p.Leu1993=)2318FLNCLikely benign-1RCV002889705; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128492781128492781-
NM_001458.5(FLNC):c.5983del (p.Arg1995fs)2318FLNCPathogenic1808872966RCV001212343; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284927851284927857:g.128492785_128492785del-
NM_001458.5(FLNC):c.5983C>T (p.Arg1995Cys)2318FLNCLikely benign1303027892RCV001938586; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128492785128492785128492785-
NM_001458.5(FLNC):c.5984G>A (p.Arg1995His)2318FLNCConflicting interpretations of pathogenicity371508414RCV000543732|RCV002491081|RCV003159898; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:60952471284927861284927867:g.128492786G>AClinGen:CA4475846C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5990C>T (p.Pro1997Leu)2318FLNCUncertain significance-1RCV002928355; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128492792128492792NC_000007.13:g.128492792C>T-
NM_001458.5(FLNC):c.5995C>T (p.Arg1999Trp)2318FLNCConflicting interpretations of pathogenicity746182820RCV001051950|RCV002355036|RCV003396672; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN230736|71284927971284927977:g.128492797C>T-
NM_001458.5(FLNC):c.5996G>A (p.Arg1999Gln)2318FLNCUncertain significance1346364708RCV000560676|RCV001332011|RCV002497177; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:60952471284927981284927987:g.128492798G>AClinGen:CA369210793C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5997G>A (p.Arg1999=)2318FLNCLikely benign1554400935RCV000649222; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284927991284927997:g.128492799G>AClinGen:CA457849400C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.5999A>C (p.His2000Pro)2318FLNCConflicting interpretations of pathogenicity572095826RCV001342036|RCV003365344; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN2307367128492801128492801128492801-
NM_001458.5(FLNC):c.6000C>G (p.His2000Gln)2318FLNCUncertain significance1254027067RCV001295157|RCV002357078; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128492802128492802128492802-
NM_001458.5(FLNC):c.6002T>C (p.Ile2001Thr)2318FLNCUncertain significance1554400940RCV000544963|RCV002358577; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284928041284928047:g.128492804T>CClinGen:CA369210816C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6004+3G>A2318FLNCUncertain significance-1RCV003091690; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128492809128492809NC_000007.13:g.128492809G>A-
NM_001458.5(FLNC):c.6004+6C>T2318FLNCUncertain significance761548420RCV001307250; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128492812128492812128492812-
NM_001458.5(FLNC):c.6004+7G>A2318FLNCLikely benign771535289RCV001446955; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128492813128492813128492813-
NM_001458.5(FLNC):c.6004+7G>C2318FLNCLikely benign771535289RCV002084644; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128492813128492813128492813-
NM_001458.5(FLNC):c.6004+12dup2318FLNCBenign755640637RCV001512997; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128492814128492815128492814-
NM_001458.5(FLNC):c.6004+10G>A2318FLNCLikely benign2128938830RCV002189783; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128492816128492816128492816-
NM_001458.5(FLNC):c.6004+11G>A2318FLNCBenign117653869RCV000250292|RCV001795444|RCV002058058; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128492817128492817NC_000007.13:g.128492817G>AClinGen:CA4475853CN169374 not specified;
NM_001458.5(FLNC):c.6004+18C>T2318FLNCLikely benign-1RCV003084350; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128492824128492824NC_000007.13:g.128492824C>T-
NM_001458.5(FLNC):c.6004+19G>A2318FLNCBenign12530507RCV000242267|RCV001573135|RCV002058059; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284928251284928257:g.128492825G>AClinGen:CA4475855CN169374 not specified;
NM_001458.5(FLNC):c.6005-14C>G2318FLNCUncertain significance1012108263RCV001882198; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128492868128492868128492868-
NM_001458.5(FLNC):c.6005-11A>T2318FLNCLikely benign-1RCV003060378; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128492871128492871NC_000007.13:g.128492871A>T-
NM_001458.5(FLNC):c.6005-9T>C2318FLNCBenign118124743RCV000177903|RCV000556508|RCV001701779; NMedGen:CN169374|MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C366190071284928731284928737:g.128492873T>CClinGen:CA202655C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6005-7T>C2318FLNCLikely benign1585167904RCV001498484; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284928751284928757:g.128492875T>C-
NM_001458.5(FLNC):c.6005G>T (p.Gly2002Val)2318FLNCUncertain significance747796553RCV000695729; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128492882128492882NC_000007.13:g.128492882G>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6006G>C (p.Gly2002=)2318FLNCLikely benign949178854RCV002217733; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128492883128492883128492883-
NM_001458.5(FLNC):c.6008T>A (p.Ile2003Asn)2318FLNCUncertain significance-1RCV002300104; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128492885128492885128492885-
NM_001458.5(FLNC):c.6009C>A (p.Ile2003=)2318FLNCLikely benign2128938866RCV002220390; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128492886128492886128492886-
NM_001458.5(FLNC):c.6015C>T (p.Phe2005=)2318FLNCLikely benign771715893RCV000649196; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128492892128492892NC_000007.13:g.128492892C>TClinGen:CA4475870C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6020C>T (p.Pro2007Leu)2318FLNCUncertain significance2128938868RCV002021587; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128492897128492897128492897-
NM_001458.5(FLNC):c.6022A>G (p.Lys2008Glu)2318FLNCUncertain significance772621794RCV000808433; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284928991284928997:g.128492899A>G-
NM_001458.5(FLNC):c.6023A>G (p.Lys2008Arg)2318FLNCUncertain significance-1RCV003035576; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128492900128492900NC_000007.13:g.128492900A>G-
NM_001458.5(FLNC):c.6030C>T (p.Val2010=)2318FLNCLikely benign375957769RCV001452972|RCV003298776; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128492907128492907128492907-
NM_001458.5(FLNC):c.6031G>A (p.Gly2011Arg)2318FLNCPathogenic/Likely pathogenic1554400962RCV000549865|RCV000850350|RCV001770467; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|Human Phenotype Ontology:HP:0001723,MONDO:MONDO7128492908128492908NC_000007.13:g.128492908G>AClinGen:CA369210984C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6036G>A (p.Glu2012=)2318FLNCLikely benign1392711485RCV001468488|RCV003346224; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310|MedGen:CN23073671284929131284929137:g.128492913G>A-
NM_001458.5(FLNC):c.6039C>T (p.His2013=)2318FLNCLikely benign776613969RCV001444105; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128492916128492916128492916-
NM_001458.5(FLNC):c.6040G>A (p.Val2014Met)2318FLNCConflicting interpretations of pathogenicity772477251RCV000557717|RCV001584315|RCV003302868; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN517202|MedGen:CN23073671284929171284929177:g.128492917G>AClinGen:CA4475875C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6040G>C (p.Val2014Leu)2318FLNCUncertain significance772477251RCV001342330; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128492917128492917128492917-
NM_001458.5(FLNC):c.6041T>C (p.Val2014Ala)2318FLNCUncertain significance765064363RCV001042923|RCV001333945|RCV001759746|RCV002355006; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:61704771284929181284929187:g.128492918T>C-
NM_001458.5(FLNC):c.6043G>A (p.Val2015Met)2318FLNCUncertain significance775231810RCV000815655|RCV003353054; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284929201284929207:g.128492920G>A-
NM_001458.5(FLNC):c.6048C>T (p.Ser2016=)2318FLNCConflicting interpretations of pathogenicity369991887RCV001447944|RCV002359002|RCV003150432; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|Human Phenotype Ontology:HP:0007128492925128492925128492925-
NM_001458.5(FLNC):c.6049G>A (p.Val2017Met)2318FLNCUncertain significance1019545678RCV001223978; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284929261284929267:g.128492926G>A-
NM_001458.5(FLNC):c.6050T>G (p.Val2017Gly)2318FLNCUncertain significance2128938884RCV001901953; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128492927128492927128492927-
NM_001458.5(FLNC):c.6052C>T (p.Arg2018Cys)2318FLNCConflicting interpretations of pathogenicity1335627502RCV000799685|RCV002352350; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284929291284929297:g.128492929C>T-
NM_001458.5(FLNC):c.6053G>A (p.Arg2018His)2318FLNCUncertain significance764326184RCV000534041|RCV002358578; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284929301284929307:g.128492930G>AClinGen:CA4475879C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6054dup (p.Lys2019fs)2318FLNCPathogenic-1RCV003022543; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128492930128492931NC_000007.13:g.128492931dup-
NM_001458.5(FLNC):c.6057G>A (p.Lys2019=)2318FLNCLikely benign1297126422RCV001456246|RCV002359019; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128492934128492934128492934-
NM_001458.5(FLNC):c.6058A>T (p.Ser2020Cys)2318FLNCUncertain significance537114122RCV000649102; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128492935128492935NC_000007.13:g.128492935A>TClinGen:CA166190162C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6062G>A (p.Gly2021Asp)2318FLNCUncertain significance1439304519RCV002011367; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128492939128492939128492939-
NM_001458.5(FLNC):c.6063C>G (p.Gly2021=)2318FLNCLikely benign751601686RCV002352840|RCV002095369; NMedGen:CN230736|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128492940128492940128492940-
NM_001458.5(FLNC):c.6068A>G (p.His2023Arg)2318FLNCUncertain significance1808882683RCV001771569|RCV001868625; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128492945128492945128492945-
NM_001458.5(FLNC):c.6071del (p.Val2024fs)2318FLNCPathogenic2128938894RCV001965139; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128492948128492948128492947-
NM_001458.5(FLNC):c.6074C>T (p.Thr2025Ile)2318FLNCUncertain significance767695121RCV002014392|RCV002352743; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128492951128492951128492951-
NM_001458.5(FLNC):c.6094C>G (p.Leu2032Val)2318FLNCUncertain significance773543205RCV001363081; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128492971128492971128492971-
NM_001458.5(FLNC):c.6095T>C (p.Leu2032Pro)2318FLNCUncertain significance1554400980RCV000649162; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128492972128492972NC_000007.13:g.128492972T>CClinGen:CA369211229C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6099G>A (p.Val2033=)2318FLNCLikely benign-1RCV002903724; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128492976128492976-
NM_001458.5(FLNC):c.6104C>T (p.Pro2035Leu)2318FLNCUncertain significance1808884606RCV001058670; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284929811284929817:g.128492981C>T-
NM_001458.5(FLNC):c.6105A>G (p.Pro2035=)2318FLNCLikely benign2128938904RCV002131530; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128492982128492982128492982-
NM_001458.5(FLNC):c.6106T>G (p.Ser2036Ala)2318FLNCUncertain significance-1RCV003033633; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128492983128492983NC_000007.13:g.128492983T>G-
NM_001458.5(FLNC):c.6111G>A (p.Glu2037=)2318FLNCLikely benign746635805RCV001402592; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128492988128492988128492988-
NM_001458.5(FLNC):c.6112A>C (p.Ile2038Leu)2318FLNCUncertain significance2128938907RCV001865050|RCV002359297; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128492989128492989128492989-
NM_001458.5(FLNC):c.6114C>T (p.Ile2038=)2318FLNCBenign/Likely benign559639511RCV000649228|RCV001087391|RCV002358864; NMedGen:C3661900|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284929911284929917:g.128492991C>TClinGen:CA4475890C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6114C>G (p.Ile2038Met)2318FLNCUncertain significance559639511RCV001996734; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128492991128492991128492991-
NM_001458.5(FLNC):c.6115G>A (p.Gly2039Arg)2318FLNCUncertain significance1354394880RCV001910021; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128492992128492992128492992-
NM_001458.5(FLNC):c.6120C>T (p.Asp2040=)2318FLNCBenign116974302RCV000434684|RCV000711692|RCV001082058|RCV002356555; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284929971284929977:g.128492997C>TClinGen:CA4475891C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6121G>C (p.Ala2041Pro)2318FLNCUncertain significance745842738RCV000649100|RCV002358858|RCV003144437; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MedGen:CN5172027128492998128492998NC_000007.13:g.128492998G>CClinGen:CA4475892C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6121G>T (p.Ala2041Ser)2318FLNCUncertain significance745842738RCV001229752|RCV003398983; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|71284929981284929987:g.128492998G>T-
NM_001458.5(FLNC):c.6121G>A (p.Ala2041Thr)2318FLNCUncertain significance745842738RCV001314822|RCV003365321; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128492998128492998128492998-
NM_001458.5(FLNC):c.6122C>A (p.Ala2041Asp)2318FLNCUncertain significance1585168065RCV000810039; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284929991284929997:g.128492999C>A-
NM_001458.5(FLNC):c.6123C>T (p.Ala2041=)2318FLNCLikely benign769675272RCV001474288|RCV002359062|RCV001823775; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|MedGen:CN1693747128493000128493000128493000-
NM_001458.5(FLNC):c.6132G>T (p.Val2044=)2318FLNCLikely benign1808885875RCV001472525; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128493009128493009128493009-
NM_001458.5(FLNC):c.6133C>A (p.Arg2045=)2318FLNCUncertain significance762748670RCV001348382; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128493010128493010128493010-
NM_001458.5(FLNC):c.6134G>A (p.Arg2045Gln)2318FLNCConflicting interpretations of pathogenicity747196571RCV000688063|RCV001592869|RCV002352127; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN517202|MedGen:CN23073671284930111284930117:g.128493011G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6134G>C (p.Arg2045Pro)2318FLNCUncertain significance-1RCV002710418; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128493011128493011NC_000007.13:g.128493011G>C-
NM_001458.5(FLNC):c.6135G>C (p.Arg2045=)2318FLNCLikely benign1585168080RCV001475592|RCV002505400; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:60952471284930121284930127:g.128493012G>C-
NM_001458.5(FLNC):c.6136G>A (p.Val2046Ile)2318FLNCUncertain significance-1RCV003117146; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128493013128493013NC_000007.13:g.128493013G>A-
NM_001458.5(FLNC):c.6148G>A (p.Gly2050Arg)2318FLNCUncertain significance1585168103RCV000805113; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284930251284930257:g.128493025G>A-
NM_001458.5(FLNC):c.6149G>A (p.Gly2050Glu)2318FLNCUncertain significance1261109029RCV000821464|RCV002352459; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284930261284930267:g.128493026G>A-
NM_001458.5(FLNC):c.6152T>G (p.Leu2051Arg)2318FLNCUncertain significance2128938929RCV001883778; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128493029128493029128493029-
NM_001458.5(FLNC):c.6156C>T (p.Ser2052=)2318FLNCLikely benign199750173RCV001482768; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128493033128493033128493033-
NM_001458.5(FLNC):c.6157G>A (p.Glu2053Lys)2318FLNCUncertain significance761922251RCV001772396|RCV002032864|RCV003401681; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|7128493034128493034128493034-
NM_001458.5(FLNC):c.6160G>A (p.Gly2054Arg)2318FLNCUncertain significance1808887627RCV001067770|RCV002355091; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284930371284930377:g.128493037G>A-
NM_001458.5(FLNC):c.6166A>G (p.Thr2056Ala)2318FLNCUncertain significance1808887741RCV001313237; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128493043128493043128493043-
NM_001458.5(FLNC):c.6168A>G (p.Thr2056=)2318FLNCLikely benign1808887834RCV002164928; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128493045128493045128493045-
NM_001458.5(FLNC):c.6170T>C (p.Phe2057Ser)2318FLNCUncertain significance1554400996RCV000551363; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284930471284930477:g.128493047T>CClinGen:CA369211516C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6173A>G (p.Gln2058Arg)2318FLNCUncertain significance-1RCV002942494; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128493050128493050NC_000007.13:g.128493050A>G-
NM_001458.5(FLNC):c.6175G>A (p.Val2059Met)2318FLNCBenign/Likely benign201333104RCV000527428|RCV000578034|RCV000578087|RCV000577974|RCV001083558|RCV002356571; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:60952471284930521284930527:g.128493052G>AClinGen:CA4475900C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6190dup (p.Val2064fs)2318FLNCPathogenic/Likely pathogenic1808888920RCV001045974|RCV001784595|RCV002355014; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN517202|MedGen:CN23073671284930661284930677:g.128493066_128493067insG-
NM_001458.5(FLNC):c.6189C>T (p.Ile2063=)2318FLNCLikely benign1408617446RCV001396312|RCV002357312; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128493066128493066128493066-
NM_001458.5(FLNC):c.6189C>A (p.Ile2063=)2318FLNCUncertain significance-1RCV003038222; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128493066128493066-
NM_001458.5(FLNC):c.6190G>A (p.Val2064Met)2318FLNCUncertain significance756710545RCV001904639; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128493067128493067128493067-
NM_001458.5(FLNC):c.6200G>A (p.Arg2067His)2318FLNCUncertain significance776520014RCV000522328|RCV000823001|RCV000852301; NMedGen:CN517202|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MONDO:MONDO:0013550,MedGen:C32771284930771284930777:g.128493077G>AClinGen:CA4475905CN169374 not specified;
NM_001458.5(FLNC):c.6203A>G (p.Asn2068Ser)2318FLNCLikely benign746724687RCV001909028; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128493080128493080128493080-
NM_001458.5(FLNC):c.6204T>C (p.Asn2068=)2318FLNCLikely benign756870900RCV000876871|RCV002363309|RCV003326500; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MedGen:C366190071284930811284930817:g.128493081T>C-
NM_001458.5(FLNC):c.6208G>A (p.Gly2070Ser)2318FLNCUncertain significance-1RCV003062141; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128493085128493085NC_000007.13:g.128493085G>A-
NM_001458.5(FLNC):c.6208+3A>G2318FLNCUncertain significance1585168169RCV001362158; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128493088128493088128493088-
NM_001458.5(FLNC):c.6208+4C>T2318FLNCUncertain significance1554401011RCV000552655; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284930891284930897:g.128493089C>TClinGen:CA658657724C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6208+8C>T2318FLNCLikely benign745328476RCV002143873; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128493093128493093128493093-
NM_001458.5(FLNC):c.6208+12C>T2318FLNCLikely benign769734177RCV002093678; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128493097128493097128493097-
NM_001458.5(FLNC):c.6208+17dup2318FLNCLikely benign1159094051RCV002164730; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128493101128493102128493101-
NM_001458.5(FLNC):c.6208+19A>G2318FLNCLikely benign-1RCV002904253; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128493104128493104NC_000007.13:g.128493104A>G-
NM_001458.5(FLNC):c.6209-18T>C2318FLNCLikely benign1808910059RCV002116598; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128493505128493505128493505-
NM_001458.5(FLNC):c.6209-12G>T2318FLNCLikely benign-1RCV002604445; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128493511128493511NC_000007.13:g.128493511G>T-
NM_001458.5(FLNC):c.6209-12G>A2318FLNCLikely benign-1RCV003003108; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128493511128493511NC_000007.13:g.128493511G>A-
NM_001458.5(FLNC):c.6209-10T>G2318FLNCLikely benign377551753RCV001438630; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN23931071284935131284935137:g.128493513T>G-
NM_001458.5(FLNC):c.6209-4C>T2318FLNCLikely benign752959773RCV000540164|RCV002358580; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284935191284935197:g.128493519C>TClinGen:CA4475923C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6209-3C>G2318FLNCUncertain significance896971028RCV000649132|RCV001766403; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN51720271284935201284935207:g.128493520C>GClinGen:CA166190591C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6209-1G>C2318FLNCLikely pathogenic-1RCV003018105; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128493522128493522NC_000007.13:g.128493522G>C-
NM_001458.5(FLNC):c.6210T>C (p.Gly2070=)2318FLNCLikely benign2128939065RCV001448117; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128493524128493524128493524-
NM_001458.5(FLNC):c.6212A>G (p.Tyr2071Cys)2318FLNCUncertain significance2128939068RCV002045707; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128493526128493526128493526-
NM_001458.5(FLNC):c.6214G>A (p.Gly2072Arg)2318FLNCUncertain significance2128939071RCV001943495; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128493528128493528128493528-
NM_001458.5(FLNC):c.6216G>A (p.Gly2072=)2318FLNCLikely benign200670345RCV001501484; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128493530128493530128493530-
NM_001458.5(FLNC):c.6217G>T (p.Gly2073Cys)2318FLNCUncertain significance1366093926RCV001876403; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128493531128493531128493531-
NM_001458.5(FLNC):c.6218G>C (p.Gly2073Ala)2318FLNCUncertain significance922864783RCV001337325; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128493532128493532128493532-
NM_001458.5(FLNC):c.6218G>A (p.Gly2073Asp)2318FLNCUncertain significance-1RCV002761615; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128493532128493532NC_000007.13:g.128493532G>A-
NM_001458.5(FLNC):c.6226C>T (p.Leu2076=)2318FLNCLikely benign756921919RCV000877510|RCV001593114|RCV003169206|RCV003150368; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN230736|Human Phenotype71284935401284935407:g.128493540C>T-
NM_001458.5(FLNC):c.6230G>A (p.Ser2077Asn)2318FLNCUncertain significance-1RCV002593154; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128493544128493544NC_000007.13:g.128493544G>A-
NM_001458.5(FLNC):c.6233T>C (p.Ile2078Thr)2318FLNCUncertain significance780762913RCV001242548|RCV001751481|RCV002366069|RCV002471054; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:00171284935471284935477:g.128493547T>C-
NM_001458.5(FLNC):c.6238G>C (p.Gly2080Arg)2318FLNCUncertain significance1808912488RCV001297403; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128493552128493552128493552-
NM_001458.5(FLNC):c.6242dup (p.Ser2082fs)2318FLNCPathogenic1585168573RCV000818589; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284935531284935547:g.128493553_128493554insC-
NM_001458.5(FLNC):c.6239G>A (p.Gly2080Asp)2318FLNCUncertain significance2128939083RCV001980946|RCV002471213; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:6170477128493553128493553128493553-
NM_001458.5(FLNC):c.6240_6259del (p.Pro2081fs)2318FLNCPathogenic2128939085RCV001384943|RCV001545499; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C36619007128493554128493573128493553-
NM_001458.5(FLNC):c.6244A>C (p.Ser2082Arg)2318FLNCUncertain significance2128939089RCV002016968; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128493558128493558128493558-
NM_001458.5(FLNC):c.6246C>T (p.Ser2082=)2318FLNCUncertain significance1554401089RCV000649156; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284935601284935607:g.128493560C>TClinGen:CA457585985C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6248A>C (p.Lys2083Thr)2318FLNCUncertain significance2128939092RCV002049765; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128493562128493562128493562-
NM_001458.5(FLNC):c.6250G>T (p.Val2084Leu)2318FLNCUncertain significance-1RCV002618125; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128493564128493564NC_000007.13:g.128493564G>T-
NM_001458.5(FLNC):c.6251T>A (p.Val2084Glu)2318FLNCUncertain significance2128939097RCV001908349; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128493565128493565128493565-
NM_001458.5(FLNC):c.6252G>A (p.Val2084=)2318FLNCLikely benign1386646158RCV000533479; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128493566128493566NC_000007.13:g.128493566G>AClinGen:CA457586005C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6257T>C (p.Ile2086Thr)2318FLNCUncertain significance1808913302RCV001344665; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128493571128493571128493571-
NM_001458.5(FLNC):c.6260A>T (p.Asn2087Ile)2318FLNCUncertain significance-1RCV002297137; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128493574128493574128493574-
NM_001458.5(FLNC):c.6262T>C (p.Cys2088Arg)2318FLNCConflicting interpretations of pathogenicity-1RCV002366728|RCV003103283; NMedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128493576128493576128493576-
NM_001458.5(FLNC):c.6271A>G (p.Met2091Val)2318FLNCUncertain significance1438491751RCV001216733; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284935851284935857:g.128493585A>G-
NM_001458.5(FLNC):c.6275A>G (p.Glu2092Gly)2318FLNCUncertain significance1808914162RCV001978709; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128493589128493589128493589-
NM_001458.5(FLNC):c.6278A>C (p.Asp2093Ala)2318FLNCUncertain significance749292393RCV000690738|RCV003144508; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN51720271284935921284935927:g.128493592A>C-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6279C>T (p.Asp2093=)2318FLNCLikely benign370386782RCV000934481|RCV001558844|RCV002354797; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310|MedGen:CN517202|MedGen:CN23073671284935931284935937:g.128493593C>T-
NM_001458.5(FLNC):c.6280G>A (p.Gly2094Arg)2318FLNCConflicting interpretations of pathogenicity188476936RCV001232176|RCV001751453; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:C366190071284935941284935947:g.128493594G>A-
NM_001458.5(FLNC):c.6282G>C (p.Gly2094=)2318FLNCLikely benign747894981RCV000943486|RCV002354827; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284935961284935967:g.128493596G>C-
NM_001458.5(FLNC):c.6283A>G (p.Thr2095Ala)2318FLNCUncertain significance373022507RCV000800091|RCV003307454; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284935971284935977:g.128493597A>G-
NM_001458.5(FLNC):c.6283A>T (p.Thr2095Ser)2318FLNCUncertain significance373022507RCV001313890|RCV003325560; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN5172027128493597128493597128493597-
NM_001458.5(FLNC):c.6285A>T (p.Thr2095=)2318FLNCLikely benign2128939108RCV001484864; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128493599128493599128493599-
NM_001458.5(FLNC):c.6292G>A (p.Val2098Ile)2318FLNCUncertain significance2128939110RCV001972033; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128493606128493606128493606-
NM_001458.5(FLNC):c.6292G>C (p.Val2098Leu)2318FLNCUncertain significance2128939110RCV001980733; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128493606128493606128493606-
NM_001458.5(FLNC):c.6296C>A (p.Thr2099Asn)2318FLNCUncertain significance771090404RCV001059226; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284936101284936107:g.128493610C>A-
NM_001458.5(FLNC):c.6302G>A (p.Cys2101Tyr)2318FLNCUncertain significance760120511RCV002024972; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128493616128493616128493616-
NM_001458.5(FLNC):c.6309C>T (p.Thr2103=)2318FLNCBenign/Likely benign376992044RCV000177935|RCV000541382|RCV001573292|RCV002362909|RCV002503687; NMedGen:CN169374|MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|MedGen:CN23073671284936231284936237:g.128493623C>TClinGen:CA202665C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6310G>A (p.Glu2104Lys)2318FLNCUncertain significance753069149RCV000811040|RCV001772094; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN51720271284936241284936247:g.128493624G>A-
NM_001458.5(FLNC):c.6310G>C (p.Glu2104Gln)2318FLNCUncertain significance753069149RCV001294798; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128493624128493624128493624-
NM_001458.5(FLNC):c.6312G>A (p.Glu2104=)2318FLNCLikely benign979412217RCV001401573|RCV001568867|RCV002357330; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN2307367128493626128493626128493626-
NM_001458.5(FLNC):c.6315C>T (p.Pro2105=)2318FLNCLikely benign764435558RCV000938951; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284936291284936297:g.128493629C>T-
NM_001458.5(FLNC):c.6316G>A (p.Gly2106Ser)2318FLNCUncertain significance-1RCV002988556; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128493630128493630NC_000007.13:g.128493630G>A-
NM_001458.5(FLNC):c.6321C>G (p.Thr2107=)2318FLNCLikely benign1417451523RCV001434198; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128493635128493635128493635-
NM_001458.5(FLNC):c.6325A>G (p.Ile2109Val)2318FLNCUncertain significance755736125RCV000696525|RCV002360774; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128493639128493639NC_000007.13:g.128493639A>G-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6328A>G (p.Ile2110Val)2318FLNCUncertain significance1236042892RCV001899596; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128493642128493642128493642-
NM_001458.5(FLNC):c.6345_6352del (p.Asp2116fs)2318FLNCPathogenic1808918080RCV001233108; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284936571284936647:g.128493657_128493664del-
NM_001458.5(FLNC):c.6354C>T (p.His2118=)2318FLNCLikely benign368455239RCV000649240|RCV001555308|RCV002360631; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN517202|MedGen:CN2307367128493668128493668NC_000007.13:g.128493668C>TClinGen:CA4475947C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6354C>A (p.His2118Gln)2318FLNCUncertain significance-1RCV002834244; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128493668128493668NC_000007.13:g.128493668C>A-
NM_001458.5(FLNC):c.6355G>A (p.Val2119Met)2318FLNCLikely benign748095197RCV000703661; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128493669128493669NC_000007.13:g.128493669G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6359C>G (p.Pro2120Arg)2318FLNCUncertain significance1808918849RCV001052976; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284936731284936737:g.128493673C>G-
NM_001458.5(FLNC):c.6361+5G>A2318FLNCUncertain significance1808919247RCV001295631|RCV002366116; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128493680128493680128493680-
NM_001458.5(FLNC):c.6361+9C>G2318FLNCLikely benign747274154RCV000949128; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284936841284936847:g.128493684C>G-
NM_001458.5(FLNC):c.6361+11G>T2318FLNCLikely benign-1RCV002959167; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128493686128493686NC_000007.13:g.128493686G>T-
NM_001458.5(FLNC):c.6362-17C>G2318FLNCBenign/Likely benign368901431RCV000607862|RCV002063067; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284937521284937527:g.128493752C>GClinGen:CA4475964CN169374 not specified;
NM_001458.5(FLNC):c.6362-14T>G2318FLNCLikely benign2128939162RCV002188951; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128493755128493755128493755-
NM_001458.5(FLNC):c.6362-10C>T2318FLNCLikely benign1350699492RCV002174989; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128493759128493759128493759-
NM_001458.5(FLNC):c.6362-9C>G2318FLNCLikely benign-1RCV003080466; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128493760128493760NC_000007.13:g.128493760C>G-
NM_001458.5(FLNC):c.6362-8C>T2318FLNCLikely benign-1RCV002731488; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128493761128493761NC_000007.13:g.128493761C>T-
NM_001458.5(FLNC):c.6362-6C>T2318FLNCLikely benign1808923840RCV002214954; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128493763128493763128493763-
NM_001458.5(FLNC):c.6362-5T>G2318FLNCUncertain significance2128939165RCV002031150; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128493764128493764128493764-
NM_001458.5(FLNC):c.6362-1G>T2318FLNCLikely pathogenic1808924231RCV001228174; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284937681284937687:g.128493768G>T-
NM_001458.5(FLNC):c.6369C>T (p.Pro2123=)2318FLNCLikely benign752728262RCV000554119; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284937761284937767:g.128493776C>TClinGen:CA4475967C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6374C>G (p.Thr2125Ser)2318FLNCUncertain significance371455516RCV001065880|RCV002355080|RCV002497464|RCV003145331; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MONDO:MONDO:0012289,MedGen:C18371284937811284937817:g.128493781C>G-
NM_001458.5(FLNC):c.6381_6386dup (p.Val2128_Thr2129dup)2318FLNCUncertain significance1808924597RCV001306653; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128493787128493788128493787-
NM_001458.5(FLNC):c.6387C>T (p.Thr2129=)2318FLNCLikely benign200182180RCV000530143|RCV001702513|RCV002358581|RCV003150274; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|MedGen:CN230736|Human Phenotype7128493794128493794NC_000007.13:g.128493794C>TClinGen:CA4475968C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6388G>A (p.Gly2130Ser)2318FLNCUncertain significance375778608RCV000804822|RCV001569480; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN51720271284937951284937957:g.128493795G>A-
NM_001458.5(FLNC):c.6390C>T (p.Gly2130=)2318FLNCConflicting interpretations of pathogenicity746751083RCV000546299|RCV000598569|RCV002367915; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN2307367128493797128493797NC_000007.13:g.128493797C>TClinGen:CA4475970C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6391G>A (p.Glu2131Lys)2318FLNCUncertain significance757511370RCV001048340|RCV002355028; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284937981284937987:g.128493798G>A-
NM_001458.5(FLNC):c.6396C>T (p.Gly2132=)2318FLNCLikely benign-1RCV002650013; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128493803128493803-
NM_001458.5(FLNC):c.6397C>T (p.Arg2133Cys)2318FLNCUncertain significance1186464414RCV000649166|RCV002358861; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128493804128493804NC_000007.13:g.128493804C>TClinGen:CA369212457C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6398G>A (p.Arg2133His)2318FLNCUncertain significance1808925531RCV001219264|RCV001751417; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN51720271284938051284938057:g.128493805G>A-
NM_001458.5(FLNC):c.6398G>T (p.Arg2133Leu)2318FLNCUncertain significance1808925531RCV001988337; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128493805128493805128493805-
NM_001458.5(FLNC):c.6400A>G (p.Met2134Val)2318FLNCUncertain significance761143223RCV001318659; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128493807128493807128493807-
NM_001458.5(FLNC):c.6405G>A (p.Lys2135=)2318FLNCConflicting interpretations of pathogenicity886043826RCV000340566|RCV001415278; NMedGen:CN517202|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284938121284938127:g.128493812G>AClinGen:CA10605999CN169374 not specified;
NM_001458.5(FLNC):c.6417C>T (p.Thr2139=)2318FLNCLikely benign2128939183RCV002217724; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128493824128493824128493824-
NM_001458.5(FLNC):c.6418C>T (p.Arg2140Trp)2318FLNCLikely benign-1RCV003086819; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128493825128493825NC_000007.13:g.128493825C>T-
NM_001458.5(FLNC):c.6419G>A (p.Arg2140Gln)2318FLNCUncertain significance368662317RCV000554166|RCV002483476; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:60952471284938261284938267:g.128493826G>AClinGen:CA4475976C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6420G>A (p.Arg2140=)2318FLNCLikely benign2128939187RCV001490929|RCV002368504; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128493827128493827128493827-
NM_001458.5(FLNC):c.6421C>T (p.Arg2141Trp)2318FLNCUncertain significance1808926604RCV002013758|RCV003161184; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128493828128493828128493828-
NM_001458.5(FLNC):c.6422G>A (p.Arg2141Gln)2318FLNCUncertain significance769106207RCV001294788|RCV003145513; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN5172027128493829128493829128493829-
NM_001458.5(FLNC):c.6428A>G (p.Gln2143Arg)2318FLNCUncertain significance774715089RCV001071866; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284938351284938357:g.128493835A>G-
NM_001458.5(FLNC):c.6429G>A (p.Gln2143=)2318FLNCLikely benign1434750571RCV001441501; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128493836128493836128493836-
NM_001458.5(FLNC):c.6441C>T (p.Ile2147=)2318FLNCConflicting interpretations of pathogenicity762017885RCV000177977|RCV000724567|RCV001412157|RCV002362910; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284938481284938487:g.128493848C>TClinGen:CA244991C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6447del (p.Ile2150fs)2318FLNCPathogenic1563003153RCV000695927; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284938531284938537:g.128493853_128493853del-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6450C>T (p.Ile2150=)2318FLNCLikely benign776206819RCV000960737|RCV002363480; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284938571284938577:g.128493857C>T-
NM_001458.5(FLNC):c.6450C>A (p.Ile2150=)2318FLNCUncertain significance776206819RCV001207059; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284938571284938577:g.128493857C>A-
NM_001458.5(FLNC):c.6451G>T (p.Gly2151Cys)2318FLNCUncertain significance1563003159RCV000698439; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128493858128493858NC_000007.13:g.128493858G>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6451G>A (p.Gly2151Ser)2318FLNCConflicting interpretations of pathogenicity1563003159RCV001042078|RCV001557508|RCV002508950; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN517202|Human Phenotype Ontology:HP:00071284938581284938587:g.128493858G>A-
NM_001458.5(FLNC):c.6453C>A (p.Gly2151=)2318FLNCLikely benign1808928125RCV001411898; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128493860128493860128493860-
NM_001458.5(FLNC):c.6459C>T (p.Thr2153=)2318FLNCBenign113618587RCV000177978|RCV000560188|RCV002362911; NMedGen:CN169374|MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284938661284938667:g.128493866C>TClinGen:CA202682C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6459C>A (p.Thr2153=)2318FLNCLikely benign113618587RCV002181257; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128493866128493866128493866-
NM_001458.5(FLNC):c.6459C>G (p.Thr2153=)2318FLNCLikely benign113618587RCV002134836; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128493866128493866128493866-
NM_001458.5(FLNC):c.6460T>A (p.Cys2154Ser)2318FLNCUncertain significance1554401153RCV000649133; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284938671284938677:g.128493867T>AClinGen:CA369212589C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6462T>C (p.Cys2154=)2318FLNCLikely benign-1RCV002970701; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128493869128493869-
NM_001458.5(FLNC):c.6471C>T (p.Asn2157=)2318FLNCConflicting interpretations of pathogenicity764877771RCV000998923|RCV001465728|RCV002363529; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN23073671284938781284938787:g.128493878C>T-
NM_001458.5(FLNC):c.6474C>T (p.Leu2158=)2318FLNCLikely benign-1RCV003032500; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128493881128493881-
NM_001458.5(FLNC):c.6479T>C (p.Ile2160Thr)2318FLNCUncertain significance-1RCV003034371|RCV003232765; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN5172027128493886128493886NC_000007.13:g.128493886T>C-
NM_001458.5(FLNC):c.6484+6A>T2318FLNCUncertain significance764061858RCV001365873; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128493897128493897128493897-
NM_001458.5(FLNC):c.6485-8C>T2318FLNCConflicting interpretations of pathogenicity369347947RCV000536231|RCV000597985; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN51720271284940201284940207:g.128494020C>TClinGen:CA4476002C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6486A>G (p.Gly2162=)2318FLNCLikely benign1462242192RCV002084702; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128494029128494029128494029-
NM_001458.5(FLNC):c.6489C>T (p.Asn2163=)2318FLNCLikely benign-1RCV002632789; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494032128494032-
NM_001458.5(FLNC):c.6490T>C (p.Trp2164Arg)2318FLNCUncertain significance1808936908RCV001063326; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284940331284940337:g.128494033T>C-
NM_001458.5(FLNC):c.6491G>A (p.Trp2164Ter)2318FLNCPathogenic2128939246RCV001953594; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128494034128494034128494034-
NM_001458.5(FLNC):c.6497A>C (p.Gln2166Pro)2318FLNCUncertain significance-1RCV002295708; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128494040128494040128494040-
NM_001458.5(FLNC):c.6497A>T (p.Gln2166Leu)2318FLNCUncertain significance-1RCV002296936; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128494040128494040128494040-
NM_001458.5(FLNC):c.6499A>G (p.Met2167Val)2318FLNCUncertain significance2128939248RCV001966070; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128494042128494042128494042-
NM_001458.5(FLNC):c.6504G>A (p.Val2168=)2318FLNCLikely benign372665009RCV001480906|RCV002368475; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128494047128494047128494047-
NM_001458.5(FLNC):c.6517C>T (p.Arg2173Cys)2318FLNCUncertain significance767250474RCV000814849; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284940601284940607:g.128494060C>T-
NM_001458.5(FLNC):c.6517C>G (p.Arg2173Gly)2318FLNCUncertain significance-1RCV002303882|RCV002363759; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310|MedGen:CN2307367128494060128494060128494060-
NM_001458.5(FLNC):c.6518G>A (p.Arg2173His)2318FLNCUncertain significance-1RCV002364198|RCV003098275|RCV003146546; NMedGen:CN230736|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN5172027128494061128494061128494061-
NM_001458.5(FLNC):c.6521T>C (p.Leu2174Pro)2318FLNCUncertain significance-1RCV003029178; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494064128494064NC_000007.13:g.128494064T>C-
NM_001458.5(FLNC):c.6523A>C (p.Thr2175Pro)2318FLNCUncertain significance1358590777RCV001346263; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128494066128494066128494066-
NM_001458.5(FLNC):c.6525A>G (p.Thr2175=)2318FLNCBenign-1RCV002630112; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494068128494068-
NM_001458.5(FLNC):c.6526C>T (p.Arg2176Cys)2318FLNCUncertain significance376885778RCV000705249; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128494069128494069NC_000007.13:g.128494069C>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6527G>A (p.Arg2176His)2318FLNCConflicting interpretations of pathogenicity1295294313RCV001767485|RCV001882906; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128494070128494070128494070-
NM_001458.5(FLNC):c.6529A>G (p.Thr2177Ala)2318FLNCUncertain significance1285672775RCV001222453; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284940721284940727:g.128494072A>G-
NM_001458.5(FLNC):c.6530C>A (p.Thr2177Asn)2318FLNCConflicting interpretations of pathogenicity756345989RCV001059268|RCV002365728; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284940731284940737:g.128494073C>A-
NM_001458.5(FLNC):c.6533T>C (p.Phe2178Ser)2318FLNCUncertain significance1554401204RCV000649120; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284940761284940767:g.128494076T>CClinGen:CA369212763C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6538C>T (p.Arg2180Cys)2318FLNCConflicting interpretations of pathogenicity779029827RCV000811509|RCV002363101|RCV003145167; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MedGen:CN51720271284940811284940817:g.128494081C>T-
NM_001458.5(FLNC):c.6539G>C (p.Arg2180Pro)2318FLNCUncertain significance1554401209RCV000649095|RCV002360620; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128494082128494082NC_000007.13:g.128494082G>CClinGen:CA369212776C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6539G>A (p.Arg2180His)2318FLNCUncertain significance1554401209RCV001070374|RCV002365778; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284940821284940827:g.128494082G>A-
NM_001458.5(FLNC):c.6551C>G (p.Thr2184Ser)2318FLNCLikely benign772588219RCV000796628; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN23931071284940941284940947:g.128494094C>G-
NM_001458.5(FLNC):c.6559CGCACGGAG[3] (p.2187RTE[3])2318FLNCUncertain significance1808941149RCV001245605; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284941011284941027:g.128494101_128494102insCGCACGGAG-
NM_001458.5(FLNC):c.6559C>T (p.Arg2187Cys)2318FLNCUncertain significance747336635RCV002222792|RCV002496150; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128494102128494102128494102-
NM_001458.5(FLNC):c.6561_6564del (p.Thr2188fs)2318FLNCPathogenic-1RCV002796563; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494102128494105NC_000007.13:g.128494104_128494107del-
NM_001458.5(FLNC):c.6560G>A (p.Arg2187His)2318FLNCUncertain significance-1RCV002631113; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494103128494103NC_000007.13:g.128494103G>A-
NM_001458.5(FLNC):c.6563C>T (p.Thr2188Met)2318FLNCConflicting interpretations of pathogenicity769574342RCV002014018|RCV003161199; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128494106128494106128494106-
NM_001458.5(FLNC):c.6564G>A (p.Thr2188=)2318FLNCLikely benign775348656RCV000544446|RCV002367916; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284941071284941077:g.128494107G>AClinGen:CA4476017C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6565G>A (p.Glu2189Lys)2318FLNCUncertain significance-1RCV002301542; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128494108128494108128494108-
NM_001458.5(FLNC):c.6568C>T (p.Arg2190Cys)2318FLNCUncertain significance1474675847RCV001344769|RCV002261351; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN5172027128494111128494111128494111-
NM_001458.5(FLNC):c.6568C>A (p.Arg2190Ser)2318FLNCUncertain significance1474675847RCV001915065; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128494111128494111128494111-
NM_001458.5(FLNC):c.6569G>A (p.Arg2190His)2318FLNCConflicting interpretations of pathogenicity762680314RCV000649147|RCV003162968; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284941121284941127:g.128494112G>AClinGen:CA4476018C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6569G>C (p.Arg2190Pro)2318FLNCConflicting interpretations of pathogenicity762680314RCV001752447|RCV001885028; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128494112128494112128494112-
NM_001458.5(FLNC):c.6570C>T (p.Arg2190=)2318FLNCUncertain significance1184540221RCV001362343; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128494113128494113128494113-
NM_001458.5(FLNC):c.6572C>T (p.Thr2191Met)2318FLNCConflicting interpretations of pathogenicity768329311RCV000482064|RCV000689890|RCV003168978; NMedGen:CN517202|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MeSH:D030342,MedGen:C095012371284941151284941157:g.128494115C>TClinGen:CA4476019C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6573G>C (p.Thr2191=)2318FLNCLikely benign761680664RCV001415785; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN23931071284941161284941167:g.128494116G>C-
NM_001458.5(FLNC):c.6573G>A (p.Thr2191=)2318FLNCLikely benign761680664RCV001505998|RCV002363500; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN23073671284941161284941167:g.128494116G>A-
NM_001458.5(FLNC):c.6587C>T (p.Thr2196Met)2318FLNCUncertain significance560228151RCV001048685; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284941301284941307:g.128494130C>T-
NM_001458.5(FLNC):c.6588G>A (p.Thr2196=)2318FLNCLikely benign750190004RCV001468425|RCV002368437|RCV003222325; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MedGen:C36619007128494131128494131128494131-
NM_001458.5(FLNC):c.6589C>T (p.Arg2197Trp)2318FLNCUncertain significance1808943188RCV001332012|RCV001871828; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:6140657128494132128494132128494132-
NM_001458.5(FLNC):c.6590G>A (p.Arg2197Gln)2318FLNCUncertain significance760535041RCV000814736|RCV002372293; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284941331284941337:g.128494133G>A-
NM_001458.5(FLNC):c.6593G>A (p.Gly2198Asp)2318FLNCUncertain significance909093665RCV000811033|RCV002370179; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284941361284941367:g.128494136G>A-
NM_001458.5(FLNC):c.6594C>T (p.Gly2198=)2318FLNCLikely benign754112206RCV001432286|RCV001703096|RCV002368342; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:C3661900|MedGen:CN2307367128494137128494137128494137-
NM_001458.5(FLNC):c.6594C>A (p.Gly2198=)2318FLNCLikely benign754112206RCV001472067|RCV002368446; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310|MedGen:CN2307367128494137128494137128494137-
NM_001458.5(FLNC):c.6595G>A (p.Gly2199Arg)2318FLNCConflicting interpretations of pathogenicity368977589RCV000536487|RCV001584316|RCV002377136|RCV002470909; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN230736|MONDO:MONDO:00171284941381284941387:g.128494138G>AClinGen:CA4476027C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6602C>T (p.Thr2201Ile)2318FLNCUncertain significance1585169205RCV000816278|RCV001772114; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN51720271284941451284941457:g.128494145C>T-
NM_001458.5(FLNC):c.6606G>A (p.Lys2202=)2318FLNCLikely benign-1RCV002623271|RCV003368018; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128494149128494149-
NM_001458.5(FLNC):c.6607C>T (p.Arg2203Cys)2318FLNCUncertain significance758838323RCV001060508|RCV001593239; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN51720271284941501284941507:g.128494150C>T-
NM_001458.5(FLNC):c.6607C>G (p.Arg2203Gly)2318FLNCUncertain significance758838323RCV001209852; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284941501284941507:g.128494150C>G-
NM_001458.5(FLNC):c.6608G>A (p.Arg2203His)2318FLNCConflicting interpretations of pathogenicity1063262RCV001063688|RCV001577292|RCV002365749; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN23073671284941511284941517:g.128494151G>A-
NM_001458.5(FLNC):c.6609C>T (p.Arg2203=)2318FLNCLikely benign374101315RCV001205621|RCV002365924; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284941521284941527:g.128494152C>T-
NM_001458.5(FLNC):c.6610G>A (p.Glu2204Lys)2318FLNCUncertain significance1476564683RCV001308100|RCV003166755; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128494153128494153128494153-
NM_001458.5(FLNC):c.6616C>T (p.Arg2206Trp)2318FLNCUncertain significance867032077RCV001932434|RCV002361133; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128494159128494159128494159-
NM_001458.5(FLNC):c.6617G>C (p.Arg2206Pro)2318FLNCUncertain significance781671804RCV001307904; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128494160128494160128494160-
NM_001458.5(FLNC):c.6617G>A (p.Arg2206Gln)2318FLNCUncertain significance781671804RCV001349769|RCV003284241; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128494160128494160128494160-
NM_001458.5(FLNC):c.6621_6638del (p.Glu2208_Val2213del)2318FLNCUncertain significance2128939305RCV002003432; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128494161128494178128494160-
NM_001458.5(FLNC):c.6620T>C (p.Val2207Ala)2318FLNCUncertain significance-1RCV002996175; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494163128494163NC_000007.13:g.128494163T>C-
NM_001458.5(FLNC):c.6624G>A (p.Glu2208=)2318FLNCLikely benign768307482RCV002216638; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128494167128494167128494167-
NM_001458.5(FLNC):c.6632C>T (p.Thr2211Ile)2318FLNCUncertain significance1808946811RCV001071638; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284941751284941757:g.128494175C>T-
NM_001458.5(FLNC):c.6634C>T (p.Gln2212Ter)2318FLNCPathogenic2128939316RCV001956089; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128494177128494177128494177-
NM_001458.5(FLNC):c.6639C>T (p.Val2213=)2318FLNCLikely benign747628268RCV000649236|RCV002360630|RCV003457731; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MedGen:C366190071284941821284941827:g.128494182C>TClinGen:CA4476038C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6640G>A (p.Gly2214Ser)2318FLNCUncertain significance1431110219RCV000549281|RCV002367918; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284941831284941837:g.128494183G>AClinGen:CA369212983C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6642C>T (p.Gly2214=)2318FLNCConflicting interpretations of pathogenicity546247674RCV000649118|RCV001771894|RCV002360622; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|MedGen:CN2307367128494185128494185NC_000007.13:g.128494185C>TClinGen:CA4476039C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6643G>A (p.Gly2215Arg)2318FLNCUncertain significance1310201356RCV002046917; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128494186128494186128494186-
NM_001458.5(FLNC):c.6646G>A (p.Asp2216Asn)2318FLNCUncertain significance1808947656RCV001209454; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284941891284941897:g.128494189G>A-
NM_001458.5(FLNC):c.6648C>T (p.Asp2216=)2318FLNCLikely benign1362841989RCV001416609; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128494191128494191NC_000007.13:g.128494191C>TClinGen:CA457849934C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6654C>T (p.Phe2218=)2318FLNCLikely benign2128939330RCV001469433; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128494197128494197128494197-
NM_001458.5(FLNC):c.6656C>A (p.Pro2219His)2318FLNCUncertain significance1808948567RCV001894874; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494199128494199128494199-
NM_001458.5(FLNC):c.6659C>T (p.Ala2220Val)2318FLNCUncertain significance370839908RCV000811891|RCV002363105; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284942021284942027:g.128494202C>T-
NM_001458.5(FLNC):c.6660T>C (p.Ala2220=)2318FLNCLikely benign1808949010RCV001446568|RCV002368376; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128494203128494203128494203-
NM_001458.5(FLNC):c.6663_6664del (p.Phe2222fs)2318FLNCPathogenic2128939337RCV001871112; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128494203128494204128494202-
NM_001458.5(FLNC):c.6661G>A (p.Val2221Met)2318FLNCUncertain significance1198252355RCV001903026; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128494204128494204128494204-
NM_001458.5(FLNC):c.6662T>C (p.Val2221Ala)2318FLNCUncertain significance2128939339RCV001372230; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128494205128494205128494205-
NM_001458.5(FLNC):c.6663G>C (p.Val2221=)2318FLNCLikely benign776372673RCV001895652; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128494206128494206128494206-
NM_001458.5(FLNC):c.6665T>C (p.Phe2222Ser)2318FLNCUncertain significance1554401281RCV000525262|RCV002367919; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN23073671284942081284942087:g.128494208T>CClinGen:CA369213058C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6672C>T (p.Asp2224=)2318FLNCLikely benign-1RCV002750097|RCV003167687; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128494215128494215-
NM_001458.5(FLNC):c.6673T>C (p.Phe2225Leu)2318FLNCUncertain significance-1RCV003068084; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494216128494216NC_000007.13:g.128494216T>C-
NM_001458.5(FLNC):c.6675C>T (p.Phe2225=)2318FLNCLikely benign1247783009RCV001441026; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494218128494218128494218-
NM_001458.5(FLNC):c.6677T>A (p.Leu2226Gln)2318FLNCUncertain significance-1RCV003029655; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494220128494220NC_000007.13:g.128494220T>A-
NM_001458.5(FLNC):c.6682C>T (p.Arg2228Trp)2318FLNCUncertain significance1196014760RCV001900011; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494225128494225128494225-
NM_001458.5(FLNC):c.6683G>A (p.Arg2228Gln)2318FLNCConflicting interpretations of pathogenicity765438770RCV000649167|RCV002291682|RCV002360625|RCV003403496; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:C3661900|MedGen:CN230736|71284942261284942267:g.128494226G>AClinGen:CA4476045C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6685G>A (p.Glu2229Lys)2318FLNCUncertain significance-1RCV002843862; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494228128494228NC_000007.13:g.128494228G>A-
NM_001458.5(FLNC):c.6689G>T (p.Arg2230Leu)2318FLNCLikely benign376035195RCV000537974; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284942321284942327:g.128494232G>TClinGen:CA369213170C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6689G>A (p.Arg2230His)2318FLNCConflicting interpretations of pathogenicity376035195RCV000687144|RCV001592866|RCV002360721; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN517202|MedGen:CN2307367128494232128494232NC_000007.13:g.128494232G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6702C>T (p.Phe2234=)2318FLNCLikely benign370589662RCV000556853|RCV001662581|RCV002367917; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN169374|MedGen:CN23073671284942451284942457:g.128494245C>TClinGen:CA4476048C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6702C>G (p.Phe2234Leu)2318FLNCConflicting interpretations of pathogenicity370589662RCV001992795|RCV002361285; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128494245128494245128494245-
NM_001458.5(FLNC):c.6703G>A (p.Gly2235Ser)2318FLNCConflicting interpretations of pathogenicity752159793RCV001214108|RCV002365962; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284942461284942467:g.128494246G>A-
NM_001458.5(FLNC):c.6707G>C (p.Ser2236Thr)2318FLNCUncertain significance1808951957RCV001340791; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128494250128494250128494250-
NM_001458.5(FLNC):c.6708C>T (p.Ser2236=)2318FLNCLikely benign757805510RCV001408637; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN23931071284942511284942517:g.128494251C>T-
NM_001458.5(FLNC):c.6711C>G (p.Ile2237Met)2318FLNCUncertain significance781708543RCV000809802; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284942541284942547:g.128494254C>G-
NM_001458.5(FLNC):c.6713C>T (p.Thr2238Ile)2318FLNCUncertain significance1043618669RCV001214386; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284942561284942567:g.128494256C>T-
NM_001458.5(FLNC):c.6714C>T (p.Thr2238=)2318FLNCConflicting interpretations of pathogenicity10268251RCV000597579|RCV001080330|RCV002367920|RCV001729638; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MedGen:CN1693747128494257128494257NC_000007.13:g.128494257C>TClinGen:CA4476052C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6714C>G (p.Thr2238=)2318FLNCLikely benign10268251RCV001467647; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128494257128494257128494257-
NM_001458.5(FLNC):c.6715C>T (p.Arg2239Trp)2318FLNCConflicting interpretations of pathogenicity367820987RCV000824072|RCV001772144|RCV002372360; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN23073671284942581284942587:g.128494258C>T-
NM_001458.5(FLNC):c.6716G>A (p.Arg2239Gln)2318FLNCUncertain significance1350832784RCV001294291|RCV001702891; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN5172027128494259128494259128494259-
NM_001458.5(FLNC):c.6716G>T (p.Arg2239Leu)2318FLNCUncertain significance1350832784RCV001699755|RCV002506735|RCV002538632; NMedGen:C3661900|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:6170477128494259128494259128494259-
NM_001458.5(FLNC):c.6720G>A (p.Gln2240=)2318FLNCLikely benign371391208RCV000526740|RCV002367921|RCV001557711; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MedGen:C366190071284942631284942637:g.128494263G>AClinGen:CA4476055C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6721C>T (p.Gln2241Ter)2318FLNCPathogenic2128939369RCV001901247; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128494264128494264128494264-
NM_001458.5(FLNC):c.6724G>A (p.Glu2242Lys)2318FLNCUncertain significance1265897548RCV000539200|RCV001755878|RCV003159899; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN517202|MedGen:CN23073671284942671284942677:g.128494267G>AClinGen:CA369213322C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6727+3G>A2318FLNCUncertain significance771664894RCV001049840; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284942731284942737:g.128494273G>A-
NM_001458.5(FLNC):c.6727+7A>G2318FLNCLikely benign746982412RCV000555360; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128494277128494277NC_000007.13:g.128494277A>GClinGen:CA4476058C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6727+11_6727+26dup2318FLNCLikely benign-1RCV003095810; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494277128494278NC_000007.13:g.128494281_128494296dup-
NM_001458.5(FLNC):c.6727+9C>T2318FLNCLikely benign770803250RCV000875234; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284942791284942797:g.128494279C>T-
NM_001458.5(FLNC):c.6727+9C>G2318FLNCLikely benign770803250RCV001449337; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128494279128494279128494279-
NM_001458.5(FLNC):c.6727+9C>A2318FLNCLikely benign770803250RCV002191243; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128494279128494279128494279-
NM_001458.5(FLNC):c.6727+10G>A2318FLNCLikely benign776420317RCV001500676; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494280128494280128494280-
NM_001458.5(FLNC):c.6727+15C>A2318FLNCLikely benign2128939385RCV002141677; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128494285128494285128494285-
NM_001458.5(FLNC):c.6728-16C>T2318FLNCLikely benign781170154RCV002182395; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128494451128494451128494451-
NM_001458.5(FLNC):c.6728-15C>A2318FLNCLikely benign2128939431RCV002144358; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128494452128494452128494452-
NM_001458.5(FLNC):c.6728-8C>T2318FLNCLikely benign2128939436RCV002161032; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494459128494459128494459-
NM_001458.5(FLNC):c.6728-7C>A2318FLNCLikely benign2128939437RCV002008691; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128494460128494460128494460-
NM_001458.5(FLNC):c.6728-3C>T2318FLNCUncertain significance-1RCV002634553; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494464128494464NC_000007.13:g.128494464C>T-
NM_001458.5(FLNC):c.6728G>A (p.Gly2243Asp)2318FLNCUncertain significance1311623651RCV001071484; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284944671284944677:g.128494467G>A-
NM_001458.5(FLNC):c.6729T>C (p.Gly2243=)2318FLNCLikely benign-1RCV002620149; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494468128494468-
NM_001458.5(FLNC):c.6730G>A (p.Glu2244Lys)2318FLNCUncertain significance1340208212RCV001944083; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494469128494469128494469-
NM_001458.5(FLNC):c.6737G>A (p.Ser2246Asn)2318FLNCUncertain significance-1RCV002622392; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494476128494476NC_000007.13:g.128494476G>A-
NM_001458.5(FLNC):c.6738C>T (p.Ser2246=)2318FLNCLikely benign1042317054RCV001395365; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128494477128494477128494477-
NM_001458.5(FLNC):c.6748A>C (p.Met2250Leu)2318FLNCUncertain significance923795184RCV000656200|RCV001036816|RCV002266989; NHuman Phenotype Ontology:HP:0001716,MONDO:MONDO:0008685,MedGen:C0043202,OMIM:194200, Orphanet:907|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C47128494487128494487NC_000007.13:g.128494487A>CClinGen:CA166191587C0043202 194200 Wolff-Parkinson-White pattern;
NM_001458.5(FLNC):c.6753dup (p.Ala2252fs)2318FLNCPathogenic1808965674RCV001038851; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284944911284944927:g.128494491_128494492insT-
NM_001458.5(FLNC):c.6753_6754dup (p.Ala2252fs)2318FLNCPathogenic-1RCV002853283; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494491128494492NC_000007.13:g.128494492_128494493dup-
NM_001458.5(FLNC):c.6754G>A (p.Ala2252Thr)2318FLNCUncertain significance963272191RCV000823318; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284944931284944937:g.128494493G>A-
NM_001458.5(FLNC):c.6770dup (p.Ser2258fs)2318FLNCPathogenic-1RCV003055702; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494506128494507NC_000007.13:g.128494509dup-
NM_001458.5(FLNC):c.6771A>G (p.Pro2257=)2318FLNCBenign34422412RCV000117080|RCV000526822|RCV001729392|RCV002362746; NMedGen:CN169374|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:C3661900|MedGen:CN23073671284945101284945107:g.128494510A>GClinGen:CA152874C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6773C>T (p.Ser2258Leu)2318FLNCUncertain significance762051422RCV001900020|RCV003150462; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|Human Phenotype Ontology:HP:0001638,MONDO:MONDO7128494512128494512128494512-
NM_001458.5(FLNC):c.6774G>A (p.Ser2258=)2318FLNCLikely benign767691386RCV001500501|RCV001581161|RCV003365417; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|MedGen:CN2307367128494513128494513128494513-
NM_001458.5(FLNC):c.6774G>C (p.Ser2258=)2318FLNCLikely benign-1RCV003021335; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494513128494513-
NM_001458.5(FLNC):c.6775G>A (p.Gly2259Ser)2318FLNCUncertain significance-1RCV003016581; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494514128494514NC_000007.13:g.128494514G>A-
NM_001458.5(FLNC):c.6777C>A (p.Gly2259=)2318FLNCLikely benign1057161787RCV001470625; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284945161284945167:g.128494516C>A-
NM_001458.5(FLNC):c.6777C>T (p.Gly2259=)2318FLNCUncertain significance1057161787RCV001883519; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128494516128494516128494516-
NM_001458.5(FLNC):c.6779A>G (p.Lys2260Arg)2318FLNCConflicting interpretations of pathogenicity751019991RCV000649108|RCV002360621|RCV003144438|RCV003448330; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MedGen:C3661900|MONDO:MONDO:00171284945181284945187:g.128494518A>GClinGen:CA4476088C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6780G>A (p.Lys2260=)2318FLNCLikely benign1808967100RCV002128461; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128494519128494519128494519-
NM_001458.5(FLNC):c.6789C>T (p.Ala2263=)2318FLNCLikely benign761059390RCV001480568|RCV002368473; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128494528128494528128494528-
NM_001458.5(FLNC):c.6798C>T (p.Ile2266=)2318FLNCLikely benign754105222RCV001454524; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128494537128494537128494537-
NM_001458.5(FLNC):c.6799G>A (p.Val2267Ile)2318FLNCUncertain significance758080422RCV000518871|RCV001042328|RCV002367735|RCV002481710; NMedGen:CN517202|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN230736|MONDO:MONDO:00171284945381284945387:g.128494538G>AClinGen:CA4476092CN169374 not specified;
NM_001458.5(FLNC):c.6801C>T (p.Val2267=)2318FLNCLikely benign768689551RCV000918902|RCV002363374; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284945401284945407:g.128494540C>T-
NM_001458.5(FLNC):c.6802G>T (p.Glu2268Ter)2318FLNCPathogenic1156444972RCV001382761; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128494541128494541128494541-
NM_001458.5(FLNC):c.6808G>A (p.Glu2270Lys)2318FLNCConflicting interpretations of pathogenicity202223616RCV000728440|RCV001079289|RCV002367748|RCV003403242; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MedGen:CN16937471284945471284945477:g.128494547G>AClinGen:CA4476094C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6809A>T (p.Glu2270Val)2318FLNCUncertain significance780658670RCV001246488|RCV002366082|RCV003145486; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MedGen:CN51720271284945481284945487:g.128494548A>T-
NM_001458.5(FLNC):c.6810G>A (p.Glu2270=)2318FLNCLikely benign745858001RCV000649263|RCV002360632; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128494549128494549NC_000007.13:g.128494549G>AClinGen:CA4476097C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6812del (p.Asp2271fs)2318FLNCPathogenic-1RCV002852550; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494551128494551NC_000007.13:g.128494551del-
NM_001458.5(FLNC):c.6816C>T (p.Ser2272=)2318FLNCBenign/Likely benign375139827RCV000649266|RCV001766404|RCV002360633; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN517202|MedGen:CN2307367128494555128494555NC_000007.13:g.128494555C>TClinGen:CA4476098C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6816C>A (p.Ser2272Arg)2318FLNCLikely benign375139827RCV001901532; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128494555128494555128494555-
NM_001458.5(FLNC):c.6817G>A (p.Ala2273Thr)2318FLNCConflicting interpretations of pathogenicity372251350RCV000488163|RCV000694275|RCV002289657|RCV002367662; NMedGen:C3661900|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0013550,MedGen:C32771284945561284945567:g.128494556G>AClinGen:CA4476099C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6823A>G (p.Ser2275Gly)2318FLNCUncertain significance-1RCV002640178; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494562128494562NC_000007.13:g.128494562A>G-
NM_001458.5(FLNC):c.6825C>T (p.Ser2275=)2318FLNCLikely benign748970432RCV000892643|RCV002363339; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284945641284945647:g.128494564C>T-
NM_001458.5(FLNC):c.6826G>A (p.Val2276Met)2318FLNCUncertain significance1207179287RCV001243535|RCV001537610|RCV002366073; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:C3661900|MedGen:CN23073671284945651284945657:g.128494565G>A-
NM_001458.5(FLNC):c.6828G>A (p.Val2276=)2318FLNCBenign-1RCV003110442; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128494567128494567-
NM_001458.5(FLNC):c.6829C>T (p.Arg2277Cys)2318FLNCLikely benign761696270RCV002047841; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128494568128494568128494568-
NM_001458.5(FLNC):c.6830G>A (p.Arg2277His)2318FLNCUncertain significance1186556555RCV001069388; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284945691284945697:g.128494569G>A-
NM_001458.5(FLNC):c.6841dup (p.Gln2281fs)2318FLNCPathogenic2128939496RCV001381586; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128494576128494577128494576-
NM_001458.5(FLNC):c.6843G>A (p.Gln2281=)2318FLNCUncertain significance2128939497RCV001921005; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128494582128494582128494582-
NM_001458.5(FLNC):c.6845A>G (p.Glu2282Gly)2318FLNCUncertain significance1808970524RCV001300928; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128494584128494584128494584-
NM_001458.5(FLNC):c.6846A>G (p.Glu2282=)2318FLNCLikely benign-1RCV003035691; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494585128494585-
NM_001458.5(FLNC):c.6848T>C (p.Met2283Thr)2318FLNCUncertain significance1174754248RCV002042906; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494587128494587128494587-
NM_001458.5(FLNC):c.6849G>A (p.Met2283Ile)2318FLNCUncertain significance1375490850RCV000545355; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284945881284945887:g.128494588G>AClinGen:CA369213919C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6853C>A (p.Pro2285Thr)2318FLNCConflicting interpretations of pathogenicity1455006748RCV001557922|RCV002570718; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128494592128494592128494592-
NM_001458.5(FLNC):c.6855C>T (p.Pro2285=)2318FLNCLikely benign772323242RCV002159217|RCV002363690; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128494594128494594128494594-
NM_001458.5(FLNC):c.6860C>T (p.Thr2287Met)2318FLNCConflicting interpretations of pathogenicity1434865362RCV001298922|RCV002366129; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128494599128494599128494599-
NM_001458.5(FLNC):c.6861G>A (p.Thr2287=)2318FLNCLikely benign773130088RCV000955066; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284946001284946007:g.128494600G>A-
NM_001458.5(FLNC):c.6862G>C (p.Val2288Leu)2318FLNCUncertain significance953084143RCV001207187|RCV002365935; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284946011284946017:g.128494601G>C-
NM_001458.5(FLNC):c.6864_6867dup (p.Val2290fs)2318FLNCPathogenic2128939508RCV001387812|RCV001699782; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C36619007128494601128494602128494601-
NM_001458.5(FLNC):c.6864C>T (p.Val2288=)2318FLNCLikely benign761269440RCV000649206|RCV001703223|RCV001701428|RCV002360627; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN517202|MedGen:CN169374|MedGen:CN2307367128494603128494603NC_000007.13:g.128494603C>TClinGen:CA4476106C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6865G>A (p.Ala2289Thr)2318FLNCConflicting interpretations of pathogenicity766740877RCV000876704|RCV002363307|RCV003145222; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MedGen:CN51720271284946041284946047:g.128494604G>A-
NM_001458.5(FLNC):c.6877C>T (p.Arg2293Cys)2318FLNCUncertain significance571239463RCV001299875|RCV001729843|RCV002366132; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN517202|MedGen:CN2307367128494616128494616128494616-
NM_001458.5(FLNC):c.6878G>A (p.Arg2293His)2318FLNCUncertain significance1034483511RCV000553531|RCV002483477; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:60952471284946171284946177:g.128494617G>AClinGen:CA166191805C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6883C>T (p.Gln2295Ter)2318FLNCPathogenic1585169831RCV000795762|RCV002466585; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|EFO:EFO_0000407,Human Phenotype Ontology:HP:00071284946221284946227:g.128494622C>T-
NM_001458.5(FLNC):c.6888C>T (p.His2296=)2318FLNCBenign/Likely benign375259002RCV000529540|RCV001085759|RCV002367924|RCV001700215; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MedGen:CN16937471284946271284946277:g.128494627C>TClinGen:CA4476109C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6889G>A (p.Val2297Met)2318FLNCConflicting interpretations of pathogenicity1420394583RCV000794895|RCV001268782|RCV003166124; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN517202|MedGen:CN23073671284946281284946287:g.128494628G>A-
NM_001458.5(FLNC):c.6890dup (p.Pro2298fs)2318FLNCPathogenic-1RCV002852167; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494628128494629NC_000007.13:g.128494629dup-
NM_001458.5(FLNC):c.6891G>A (p.Val2297=)2318FLNCLikely benign1480800568RCV001499091; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128494630128494630128494630-
NM_001458.5(FLNC):c.6893C>T (p.Pro2298Leu)2318FLNCConflicting interpretations of pathogenicity1382734231RCV000690640|RCV000714271; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|Human Phenotype Ontology:HP:0001723,MONDO:MONDO71284946321284946327:g.128494632C>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6894C>T (p.Pro2298=)2318FLNCLikely benign765567723RCV002073631; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128494633128494633128494633-
NM_001458.5(FLNC):c.6895G>A (p.Gly2299Ser)2318FLNCUncertain significance756870838RCV000545706; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284946341284946347:g.128494634G>AClinGen:CA369214094C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6905T>C (p.Phe2302Ser)2318FLNCUncertain significance-1RCV002900094; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494644128494644NC_000007.13:g.128494644T>C-
NM_001458.5(FLNC):c.6907C>T (p.Gln2303Ter)2318FLNCPathogenic-1RCV003097792|RCV003164442; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS11527128494646128494646NC_000007.13:g.128494646C>T-
NM_001458.5(FLNC):c.6909G>C (p.Gln2303His)2318FLNCUncertain significance-1RCV003048806; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494648128494648NC_000007.13:g.128494648G>C-
NM_001458.5(FLNC):c.6912C>G (p.Phe2304Leu)2318FLNCUncertain significance-1RCV002299316; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128494651128494651128494651-
NM_001458.5(FLNC):c.6915T>C (p.Thr2305=)2318FLNCLikely benign1808975093RCV001442308; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494654128494654128494654-
NM_001458.5(FLNC):c.6923C>T (p.Pro2308Leu)2318FLNCConflicting interpretations of pathogenicity369250297RCV000558130|RCV001566239|RCV002367925; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN517202|MedGen:CN23073671284946621284946627:g.128494662C>TClinGen:CA4476114C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6924G>A (p.Pro2308=)2318FLNCLikely benign756083833RCV001456954; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128494663128494663128494663-
NM_001458.5(FLNC):c.6925C>T (p.Leu2309=)2318FLNCLikely benign1350109880RCV001430117|RCV002368336; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128494664128494664128494664-
NM_001458.5(FLNC):c.6932A>C (p.Glu2311Ala)2318FLNCUncertain significance-1RCV002999592; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494671128494671NC_000007.13:g.128494671A>C-
NM_001458.5(FLNC):c.6938G>A (p.Gly2313Asp)2318FLNCUncertain significance1808975955RCV001214047; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284946771284946777:g.128494677G>A-
NM_001458.5(FLNC):c.6948G>A (p.Lys2316=)2318FLNCLikely benign1808976729RCV002078930; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128494687128494687128494687-
NM_001458.5(FLNC):c.6949G>A (p.Val2317Met)2318FLNCUncertain significance-1RCV002825005; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494688128494688NC_000007.13:g.128494688G>A-
NM_001458.5(FLNC):c.6953G>A (p.Arg2318Gln)2318FLNCConflicting interpretations of pathogenicity749235580RCV000815107|RCV002363124|RCV003127475; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MedGen:CN51720271284946921284946927:g.128494692G>A-
NM_001458.5(FLNC):c.6955del (p.Ala2319fs)2318FLNCPathogenic2128939548RCV001380147; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128494692128494692128494691-
NM_001458.5(FLNC):c.6957del (p.Gly2320fs)2318FLNCPathogenic-1RCV002988572; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494695128494695NC_000007.13:g.128494696del-
NM_001458.5(FLNC):c.6957C>T (p.Ala2319=)2318FLNCLikely benign553639480RCV000420365|RCV001398879|RCV003298437; NMedGen:CN169374|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284946961284946967:g.128494696C>TClinGen:CA4476118CN169374 not specified;
NM_001458.5(FLNC):c.6957C>G (p.Ala2319=)2318FLNCLikely benign553639480RCV001451444; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128494696128494696128494696-
NM_001458.5(FLNC):c.6958G>A (p.Gly2320Arg)2318FLNCLikely pathogenic867808948RCV000534437|RCV000786310; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN51720271284946971284946977:g.128494697G>AClinGen:CA166191873C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6963C>T (p.Gly2321=)2318FLNCLikely benign-1RCV002633701; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494702128494702-
NM_001458.5(FLNC):c.6972G>A (p.Leu2324=)2318FLNCLikely benign1026201839RCV001435414; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128494711128494711128494711-
NM_001458.5(FLNC):c.6975G>A (p.Glu2325=)2318FLNCLikely benign778823809RCV001479095|RCV002368468; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128494714128494714128494714-
NM_001458.5(FLNC):c.6976C>T (p.Arg2326Ter)2318FLNCPathogenic748416758RCV000554323|RCV001571673|RCV002367971|RCV003150276; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN230736|Human Phenotype71284947151284947157:g.128494715C>TClinGen:CA4476120CN239310 Dilated Cardiomyopathy, Dominant;
NM_001458.5(FLNC):c.6977G>A (p.Arg2326Gln)2318FLNCConflicting interpretations of pathogenicity201028676RCV000546923|RCV002377137; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284947161284947167:g.128494716G>AClinGen:CA4476121C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6982G>A (p.Val2328Met)2318FLNCPathogenic2128939561RCV001973664; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128494721128494721128494721-
NM_001458.5(FLNC):c.6986C>G (p.Ala2329Gly)2318FLNCConflicting interpretations of pathogenicity746991573RCV000696383|RCV003303151|RCV003238803; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MedGen:CN51720271284947251284947257:g.128494725C>G-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6987C>T (p.Ala2329=)2318FLNCLikely benign771037016RCV000532872|RCV002367923|RCV001571883; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MedGen:C36619007128494726128494726NC_000007.13:g.128494726C>TClinGen:CA4476124C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6987C>A (p.Ala2329=)2318FLNCUncertain significance-1RCV003080405; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494726128494726-
NM_001458.5(FLNC):c.6988G>A (p.Gly2330Ser)2318FLNCBenign/Likely benign527248119RCV000559622|RCV002367926|RCV001700216|RCV001701077; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MedGen:C3661900|MedGen:CN16937471284947271284947277:g.128494727G>AClinGen:CA4476125C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6990C>T (p.Gly2330=)2318FLNCBenign-1RCV002715035; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494729128494729-
NM_001458.5(FLNC):c.6991G>A (p.Val2331Met)2318FLNCBenign/Likely benign191288058RCV000649269|RCV000729933|RCV001595030|RCV002360634; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN169374|MedGen:C3661900|MedGen:CN2307367128494730128494730NC_000007.13:g.128494730G>AClinGen:CA4476127C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6991G>T (p.Val2331Leu)2318FLNCConflicting interpretations of pathogenicity191288058RCV001230630|RCV003166407; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284947301284947307:g.128494730G>T-
NM_001458.5(FLNC):c.6997+1G>T2318FLNCLikely pathogenic1585169973RCV000795916; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN23931071284947371284947377:g.128494737G>T-
NM_001458.5(FLNC):c.6997+4A>G2318FLNCUncertain significance1227552125RCV000689737|RCV002360732; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284947401284947407:g.128494740A>G-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6998-20A>G2318FLNCLikely benign-1RCV002587867; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494809128494809NC_000007.13:g.128494809A>G-
NM_001458.5(FLNC):c.6998-19C>G2318FLNCLikely benign1187236355RCV002150698; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128494810128494810128494810-
NM_001458.5(FLNC):c.6998-10C>T2318FLNCLikely benign1427937152RCV000535665; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284948191284948197:g.128494819C>TClinGen:CA578150657C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6998-9T>A2318FLNCUncertain significance-1RCV002928378; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494820128494820NC_000007.13:g.128494820T>A-
NM_001458.5(FLNC):c.6998-6C>G2318FLNCLikely benign1336346022RCV001036305; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284948231284948237:g.128494823C>G-
NM_001458.5(FLNC):c.6998-6C>T2318FLNCUncertain significance1336346022RCV001345257; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128494823128494823128494823-
NM_001458.5(FLNC):c.6998-5C>T2318FLNCConflicting interpretations of pathogenicity139030003RCV000724252|RCV001081189|RCV001795298|RCV002362918; NMedGen:C3661900|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN169374|MedGen:CN23073671284948241284948247:g.128494824C>TClinGen:CA245627C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.6998-4C>G2318FLNCLikely benign-1RCV003062890; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494825128494825NC_000007.13:g.128494825C>G-
NM_001458.5(FLNC):c.6999C>T (p.Ala2333=)2318FLNCLikely benign201735453RCV001402319|RCV002377611; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128494830128494830128494830-
NM_001458.5(FLNC):c.7000G>A (p.Glu2334Lys)2318FLNCUncertain significance1808984299RCV001064782|RCV001572354; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN51720271284948311284948317:g.128494831G>A-
NM_001458.5(FLNC):c.7007G>T (p.Ser2336Ile)2318FLNCUncertain significance-1RCV003030167; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494838128494838NC_000007.13:g.128494838G>T-
NM_001458.5(FLNC):c.7014G>A (p.Trp2338Ter)2318FLNCPathogenic2128939606RCV001928000; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128494845128494845128494845-
NM_001458.5(FLNC):c.7016C>T (p.Thr2339Ile)2318FLNCUncertain significance1554401463RCV000528979; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284948471284948477:g.128494847C>TClinGen:CA369214932C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7018C>T (p.Arg2340Trp)2318FLNCUncertain significance2128939610RCV001895845|RCV003407891|RCV002361160; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310||MedGen:CN2307367128494849128494849128494849-
NM_001458.5(FLNC):c.7023G>A (p.Glu2341=)2318FLNCLikely benign2128939611RCV001468545; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128494854128494854128494854-
NM_001458.5(FLNC):c.7025C>T (p.Ala2342Val)2318FLNCUncertain significance2128939613RCV001967350; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128494856128494856128494856-
NM_001458.5(FLNC):c.7029C>T (p.Gly2343=)2318FLNCLikely benign770236960RCV001472847|RCV002363366; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284948601284948607:g.128494860C>T-
NM_001458.5(FLNC):c.7030G>C (p.Ala2344Pro)2318FLNCUncertain significance529917784RCV001322770; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128494861128494861128494861-
NM_001458.5(FLNC):c.7030G>A (p.Ala2344Thr)2318FLNCUncertain significance529917784RCV001341630; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128494861128494861128494861-
NM_001458.5(FLNC):c.7038C>A (p.Gly2346=)2318FLNCLikely benign763377116RCV000917632|RCV001796314|RCV002372550; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310|MedGen:C3661900|MedGen:CN23073671284948691284948697:g.128494869C>A-
NM_001458.5(FLNC):c.7041G>A (p.Leu2347=)2318FLNCLikely benign772789448RCV000649199|RCV002369736; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128494872128494872NC_000007.13:g.128494872G>AClinGen:CA4476147C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7047T>C (p.Ile2349=)2318FLNCLikely benign760345428RCV000649262; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494878128494878NC_000007.13:g.128494878T>CClinGen:CA4476148C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7055A>T (p.Glu2352Val)2318FLNCUncertain significance-1RCV003121900; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128494886128494886NC_000007.13:g.128494886A>T-
NM_001458.5(FLNC):c.7066A>G (p.Lys2356Glu)2318FLNCUncertain significance2128939626RCV002049694; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128494897128494897128494897-
NM_001458.5(FLNC):c.7070_7072del (p.Ala2357del)2318FLNCUncertain significance1554401479RCV000536015; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284949001284949027:g.128494900_128494902delClinGen:CA658657725C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7070C>T (p.Ala2357Val)2318FLNCUncertain significance765841097RCV001951749|RCV002361307; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128494901128494901128494901-
NM_001458.5(FLNC):c.7071G>A (p.Ala2357=)2318FLNCLikely benign753353216RCV001504669|RCV002368532; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN2307367128494902128494902128494902-
NM_001458.5(FLNC):c.7072G>A (p.Glu2358Lys)2318FLNCConflicting interpretations of pathogenicity370769744RCV001890643|RCV003150464; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|Human Phenotype Ontology:HP:0001638,MONDO:MONDO7128494903128494903128494903-
NM_001458.5(FLNC):c.7075A>G (p.Ile2359Val)2318FLNCUncertain significance1554401481RCV000548516; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284949061284949067:g.128494906A>GClinGen:CA369215176C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7078G>A (p.Ala2360Thr)2318FLNCUncertain significance1390516682RCV000524806|RCV002282225; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN16937471284949091284949097:g.128494909G>AClinGen:CA369215190C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7078G>C (p.Ala2360Pro)2318FLNCUncertain significance-1RCV003021438|RCV003146729; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN5172027128494909128494909NC_000007.13:g.128494909G>C-
NM_001458.5(FLNC):c.7080A>G (p.Ala2360=)2318FLNCLikely benign1554401489RCV000649193; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494911128494911NC_000007.13:g.128494911A>GClinGen:CA457588070C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7090C>A (p.Arg2364Ser)2318FLNCUncertain significance374973240RCV000796521; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN23931071284949211284949217:g.128494921C>A-
NM_001458.5(FLNC):c.7090C>T (p.Arg2364Cys)2318FLNCConflicting interpretations of pathogenicity374973240RCV000822078|RCV001357140|RCV002307631|RCV002363167|RCV002495178|RCV003396451; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:C3661900|MedGen:CN169374|MedGen:CN23073671284949211284949217:g.128494921C>T-
NM_001458.5(FLNC):c.7091G>A (p.Arg2364His)2318FLNCBenign/Likely benign201672146RCV000178492|RCV000541798|RCV002292480|RCV002362917; NMedGen:CN169374|MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|MedGen:CN23073671284949221284949227:g.128494922G>AClinGen:CA202899C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7094A>G (p.Lys2365Arg)2318FLNCUncertain significance751765487RCV000805137|RCV003166243; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284949251284949257:g.128494925A>G-
NM_001458.5(FLNC):c.7104C>T (p.Ser2368=)2318FLNCLikely benign1585170155RCV001435976; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284949351284949357:g.128494935C>T-
NM_001458.5(FLNC):c.7106G>A (p.Cys2369Tyr)2318FLNCUncertain significance2128939641RCV001974167|RCV003146441; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:C36619007128494937128494937128494937-
NM_001458.5(FLNC):c.7107C>T (p.Cys2369=)2318FLNCLikely benign781154278RCV000649209|RCV002360628; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128494938128494938NC_000007.13:g.128494938C>TClinGen:CA4476157C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7108G>A (p.Gly2370Ser)2318FLNCConflicting interpretations of pathogenicity201917318RCV000497397|RCV000697254|RCV002506204|RCV002367676; NMedGen:CN517202|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MONDO:MONDO:0013550,MedGen:C32771284949391284949397:g.128494939G>AClinGen:CA4476158C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7110C>A (p.Gly2370=)2318FLNCLikely benign770288312RCV000649195; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494941128494941NC_000007.13:g.128494941C>AClinGen:CA457588201C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7111G>A (p.Val2371Ile)2318FLNCConflicting interpretations of pathogenicity552252122RCV000649141|RCV002360624|RCV003150320; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|Human Phenotype Ontology:HP:00071284949421284949427:g.128494942G>AClinGen:CA4476160C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7118A>T (p.Tyr2373Phe)2318FLNCUncertain significance1021731214RCV001897008; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494949128494949128494949-
NM_001458.5(FLNC):c.7122C>T (p.Val2374=)2318FLNCLikely benign374711133RCV000906275|RCV002372526; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284949531284949537:g.128494953C>T-
NM_001458.5(FLNC):c.7123G>A (p.Val2375Ile)2318FLNCConflicting interpretations of pathogenicity768941858RCV000692071|RCV001766484|RCV002360746; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN517202|MedGen:CN23073671284949541284949547:g.128494954G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7135+6C>T2318FLNCUncertain significance774739675RCV001225990; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284949721284949727:g.128494972C>T-
NM_001458.5(FLNC):c.7135+7G>A2318FLNCLikely benign760271102RCV000925379; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284949731284949737:g.128494973G>A-
NM_001458.5(FLNC):c.7135+9C>A2318FLNCLikely benign2128939656RCV002123280; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128494975128494975128494975-
NM_001458.5(FLNC):c.7135+10C>T2318FLNCLikely benign-1RCV003084378; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494976128494976NC_000007.13:g.128494976C>T-
NM_001458.5(FLNC):c.7135+13A>T2318FLNCLikely benign2128939658RCV002187928; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128494979128494979128494979-
NM_001458.5(FLNC):c.7135+13A>C2318FLNCLikely benign-1RCV002781129; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128494979128494979NC_000007.13:g.128494979A>C-
NM_001458.5(FLNC):c.7136-10C>G2318FLNCLikely benign982485834RCV000977971; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN23931071284952431284952437:g.128495243C>G-
NM_001458.5(FLNC):c.7136-8C>T2318FLNCLikely benign2128939734RCV002211486; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128495245128495245128495245-
NM_001458.5(FLNC):c.7136-6C>A2318FLNCLikely benign368292177RCV000554541|RCV001722506|RCV002476184; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1837128495247128495247NC_000007.13:g.128495247C>AClinGen:CA4476179C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7136-4C>T2318FLNCLikely benign938369758RCV001438056; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284952491284952497:g.128495249C>T-
NM_001458.5(FLNC):c.7138G>C (p.Asp2380His)2318FLNCUncertain significance1334300883RCV000649131; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128495255128495255NC_000007.13:g.128495255G>CClinGen:CA369215503C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7138G>A (p.Asp2380Asn)2318FLNCUncertain significance1334300883RCV002003232; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128495255128495255128495255-
NM_001458.5(FLNC):c.7146G>A (p.Glu2382=)2318FLNCLikely benign779162678RCV000649211|RCV001545774|RCV002360629; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN517202|MedGen:CN2307367128495263128495263NC_000007.13:g.128495263G>AClinGen:CA4476181C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7149C>T (p.Val2383=)2318FLNCLikely benign970004617RCV001911016|RCV003289181; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128495266128495266128495266-
NM_001458.5(FLNC):c.7151C>T (p.Ser2384Phe)2318FLNCUncertain significance1219809283RCV001757153|RCV002538860; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128495268128495268128495268-
NM_001458.5(FLNC):c.7158G>A (p.Lys2386=)2318FLNCLikely benign1554401556RCV000649197; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128495275128495275NC_000007.13:g.128495275G>AClinGen:CA457588420C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7164T>C (p.Asn2388=)2318FLNCLikely benign1000562422RCV001451282|RCV003298770; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128495281128495281128495281-
NM_001458.5(FLNC):c.7171C>T (p.His2391Tyr)2318FLNCUncertain significance1554401558RCV000649066; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128495288128495288NC_000007.13:g.128495288C>TClinGen:CA369215679C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7173C>T (p.His2391=)2318FLNCLikely benign1188007382RCV002095378; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128495290128495290128495290-
NM_001458.5(FLNC):c.7176C>G (p.Ile2392Met)2318FLNCUncertain significance1585170543RCV000818294|RCV003279106; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MeSH:D030342,MedGen:C095012371284952931284952937:g.128495293C>G-
NM_001458.5(FLNC):c.7177C>G (p.Pro2393Ala)2318FLNCUncertain significance1554401559RCV000649123; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128495294128495294NC_000007.13:g.128495294C>GClinGen:CA369215708C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7178C>T (p.Pro2393Leu)2318FLNCUncertain significance2128939746RCV001976626; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128495295128495295128495295-
NM_001458.5(FLNC):c.7178C>G (p.Pro2393Arg)2318FLNCUncertain significance-1RCV003056099; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128495295128495295NC_000007.13:g.128495295C>G-
NM_001458.5(FLNC):c.7180G>C (p.Asp2394His)2318FLNCConflicting interpretations of pathogenicity1554401561RCV000649103|RCV000853258; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C0949657128495297128495297NC_000007.13:g.128495297G>CClinGen:CA369215723C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7182C>T (p.Asp2394=)2318FLNCLikely benign769465229RCV001468402; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128495299128495299128495299-
NM_001458.5(FLNC):c.7185C>T (p.Ser2395=)2318FLNCBenign/Likely benign199880128RCV000526014|RCV002497178|RCV002377138|RCV001558061; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:61406571284953021284953027:g.128495302C>TClinGen:CA4476187C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7186C>T (p.Pro2396Ser)2318FLNCUncertain significance1809007749RCV001915885; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128495303128495303128495303-
NM_001458.5(FLNC):c.7195G>A (p.Val2399Met)2318FLNCUncertain significance2128939752RCV002004388; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128495312128495312128495312-
NM_001458.5(FLNC):c.7197G>A (p.Val2399=)2318FLNCLikely benign1170465988RCV002093565; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128495314128495314128495314-
NM_001458.5(FLNC):c.7198C>G (p.Pro2400Ala)2318FLNCUncertain significance1390223951RCV000792374; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN23931071284953151284953157:g.128495315C>G-
NM_001458.5(FLNC):c.7198C>T (p.Pro2400Ser)2318FLNCUncertain significance1390223951RCV001752403|RCV002544097; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128495315128495315128495315-
NM_001458.5(FLNC):c.7201G>A (p.Val2401Met)2318FLNCUncertain significance868744958RCV001923024|RCV003146347; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C36619007128495318128495318128495318-
NM_001458.5(FLNC):c.7204G>C (p.Ala2402Pro)2318FLNCUncertain significance-1RCV003005077; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128495321128495321NC_000007.13:g.128495321G>C-
NM_001458.5(FLNC):c.7207T>C (p.Ser2403Pro)2318FLNCUncertain significance-1RCV002725422; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128495324128495324NC_000007.13:g.128495324T>C-
NM_001458.5(FLNC):c.7210C>T (p.Leu2404Phe)2318FLNCUncertain significance764034824RCV001372091; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128495327128495327128495327-
NM_001458.5(FLNC):c.7212C>T (p.Leu2404=)2318FLNCLikely benign1809008715RCV002205580; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128495329128495329128495329-
NM_001458.5(FLNC):c.7214C>T (p.Ser2405Leu)2318FLNCUncertain significance2128939759RCV002006275|RCV002370658|RCV003317566; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MedGen:C36619007128495331128495331128495331-
NM_001458.5(FLNC):c.7215G>A (p.Ser2405=)2318FLNCBenign/Likely benign774019775RCV000538735|RCV002377139; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128495332128495332NC_000007.13:g.128495332G>AClinGen:CA4476190C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7217A>T (p.Asp2406Val)2318FLNCUncertain significance-1RCV002625057; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128495334128495334NC_000007.13:g.128495334A>T-
NM_001458.5(FLNC):c.7221C>T (p.Asp2407=)2318FLNCBenign3816885RCV000117082|RCV000711694|RCV001517752|RCV002371950; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN23073671284953381284953387:g.128495338C>TClinGen:CA152880CN169374 not specified;
NM_001458.5(FLNC):c.7222G>A (p.Ala2408Thr)2318FLNCUncertain significance376257910RCV000649073|RCV002369735; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128495339128495339NC_000007.13:g.128495339G>AClinGen:CA166193551C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7224T>G (p.Ala2408=)2318FLNCLikely benign2128939770RCV002159723; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128495341128495341128495341-
NM_001458.5(FLNC):c.7225C>T (p.Arg2409Cys)2318FLNCUncertain significance1244377387RCV001235390; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284953421284953427:g.128495342C>T-
NM_001458.5(FLNC):c.7226G>A (p.Arg2409His)2318FLNCConflicting interpretations of pathogenicity767279710RCV000649059|RCV002369734|RCV002470940|RCV003144433; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310|MedGen:CN230736|MONDO:MONDO:0014883,MedGen:C4317128495343128495343NC_000007.13:g.128495343G>AClinGen:CA4476191C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7227C>T (p.Arg2409=)2318FLNCLikely benign1809009738RCV001459196; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128495344128495344128495344-
NM_001458.5(FLNC):c.7228C>T (p.Arg2410Cys)2318FLNCConflicting interpretations of pathogenicity750686083RCV001242147|RCV002491809|RCV003145469; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:61406571284953451284953457:g.128495345C>T-
NM_001458.5(FLNC):c.7229G>A (p.Arg2410His)2318FLNCConflicting interpretations of pathogenicity558239439RCV000555744|RCV002377140|RCV003224331|RCV003144358; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MONDO:MONDO:0013550,MedGen:C32771284953461284953467:g.128495346G>AClinGen:CA4476193C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7235_7236del (p.Thr2412fs)2318FLNCPathogenic/Likely pathogenic-1RCV002371023|RCV002463377|RCV003103376; NMedGen:CN230736|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524,7128495352128495353128495351-
NM_001458.5(FLNC):c.7235C>T (p.Thr2412Ile)2318FLNCUncertain significance-1RCV002750204; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128495352128495352NC_000007.13:g.128495352C>T-
NM_001458.5(FLNC):c.7238T>C (p.Val2413Ala)2318FLNCUncertain significance-1RCV002305312; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128495355128495355128495355-
NM_001458.5(FLNC):c.7251+1G>A2318FLNCPathogenic1554401581RCV000649067|RCV003235326; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:6170477128495369128495369NC_000007.13:g.128495369G>AClinGen:CA369216134,OMIM:102565.0013C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7251+1G>T2318FLNCPathogenic1554401581RCV001065788; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284953691284953697:g.128495369G>T-
NM_001458.5(FLNC):c.7251+4T>G2318FLNCUncertain significance1389522053RCV001225607; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284953721284953727:g.128495372T>G-
NM_001458.5(FLNC):c.7251+7G>A2318FLNCLikely benign1809010910RCV001401690; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128495375128495375128495375-
NM_001458.5(FLNC):c.7251+13G>A2318FLNCLikely benign367952484RCV002135628; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128495381128495381128495381-
NM_001458.5(FLNC):c.7251+16G>A2318FLNCLikely benign573245805RCV002188701; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128495384128495384128495384-
NM_001458.5(FLNC):c.7251+16G>C2318FLNCLikely benign-1RCV003064816; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128495384128495384NC_000007.13:g.128495384G>C-
NM_001458.5(FLNC):c.7251+20G>T2318FLNCLikely benign758879860RCV002101221; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128495388128495388128495388-
NM_001458.5(FLNC):c.7252-14C>T2318FLNCLikely benign-1RCV002912469; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128496558128496558NC_000007.13:g.128496558C>T-
NM_001458.5(FLNC):c.7252-12T>C2318FLNCUncertain significance-1RCV002603213; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128496560128496560NC_000007.13:g.128496560T>C-
NM_001458.5(FLNC):c.7256C>T (p.Thr2419Met)2318FLNCConflicting interpretations of pathogenicity199768217RCV000884086|RCV001199262|RCV001530834|RCV002372507; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:61704771284965761284965767:g.128496576C>T-
NM_001458.5(FLNC):c.7257G>A (p.Thr2419=)2318FLNCLikely benign201008333RCV000956342|RCV002372663; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284965771284965777:g.128496577G>A-
NM_001458.5(FLNC):c.7260G>A (p.Gly2420=)2318FLNCLikely benign755831714RCV001431937; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN23931071284965801284965807:g.128496580G>A-
NM_001458.5(FLNC):c.7261del (p.Leu2421fs)2318FLNCPathogenic2128940107RCV001381990; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128496581128496581128496580-
NM_001458.5(FLNC):c.7263C>G (p.Leu2421=)2318FLNCLikely benign2128940109RCV001457186; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128496583128496583128496583-
NM_001458.5(FLNC):c.7268T>A (p.Val2423Glu)2318FLNCUncertain significance-1RCV003037483; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128496588128496588NC_000007.13:g.128496588T>A-
NM_001458.5(FLNC):c.7275G>C (p.Gln2425His)2318FLNCUncertain significance2128940112RCV001362160; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128496595128496595128496595-
NM_001458.5(FLNC):c.7278A>G (p.Pro2426=)2318FLNCLikely benign2128940114RCV002120731; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128496598128496598128496598-
NM_001458.5(FLNC):c.7280C>T (p.Ala2427Val)2318FLNCConflicting interpretations of pathogenicity1343869103RCV000788664|RCV000794882|RCV003117578|RCV003279061; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|Human Phenotype Ontology:HP:00071284966001284966007:g.128496600C>T-
NM_001458.5(FLNC):c.7281G>A (p.Ala2427=)2318FLNCBenign/Likely benign186451916RCV000530793|RCV001704479|RCV002379359; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN23073671284966011284966017:g.128496601G>AClinGen:CA4476221C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val)2318FLNCConflicting interpretations of pathogenicity200516164RCV000178551|RCV000649080|RCV000764688|RCV002381577|RCV003155106; NMedGen:C3661900|MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MONDO:MONDO:0013550,MedGen:C32771284966091284966097:g.128496609C>TClinGen:CA245692,UniProtKB:Q14315#VAR_077043C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7290C>T (p.Ala2430=)2318FLNCLikely benign373240622RCV000538942|RCV002384212; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284966101284966107:g.128496610C>TClinGen:CA4476222C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7291G>A (p.Val2431Met)2318FLNCConflicting interpretations of pathogenicity572952653RCV000592671|RCV001085992|RCV002384213; NMedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284966111284966117:g.128496611G>AClinGen:CA4476223C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7294C>T (p.Gln2432Ter)2318FLNCPathogenic1554401756RCV000542796; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128496614128496614NC_000007.13:g.128496614C>TClinGen:CA369216620C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7299G>A (p.Leu2433=)2318FLNCLikely benign772998551RCV001488860|RCV002382181; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310|MedGen:CN23073671284966191284966197:g.128496619G>A-
NM_001458.5(FLNC):c.7302C>T (p.Asn2434=)2318FLNCLikely benign760533029RCV000982370|RCV003424516; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:C366190071284966221284966227:g.128496622C>T-
NM_001458.5(FLNC):c.7303G>A (p.Gly2435Ser)2318FLNCUncertain significance-1RCV002917906; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128496623128496623NC_000007.13:g.128496623G>A-
NM_001458.5(FLNC):c.7313_7330dup (p.Gly2438_Arg2443dup)2318FLNCUncertain significance1554401762RCV000532285; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128496624128496625NC_000007.13:g.128496633_128496650dupClinGen:CA658657726C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7309dup (p.Arg2437fs)2318FLNCPathogenic2128940130RCV001962386; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128496626128496627128496626-
NM_001458.5(FLNC):c.7309C>T (p.Arg2437Trp)2318FLNCConflicting interpretations of pathogenicity756353876RCV000703314|RCV001771996|RCV002386260; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN517202|MedGen:CN23073671284966291284966297:g.128496629C>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7310G>A (p.Arg2437Gln)2318FLNCConflicting interpretations of pathogenicity201762568RCV000649109|RCV002386093|RCV002477440|RCV003144439; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MONDO:MONDO:0012289,MedGen:C1837128496630128496630NC_000007.13:g.128496630G>AClinGen:CA4476230C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7313G>A (p.Gly2438Asp)2318FLNCUncertain significance2128940134RCV002025410; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128496633128496633128496633-
NM_001458.5(FLNC):c.7314C>T (p.Gly2438=)2318FLNCLikely benign765385925RCV000883992|RCV001464876|RCV002382032; NMedGen:CN517202|MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284966341284966347:g.128496634C>T-
NM_001458.5(FLNC):c.7314C>A (p.Gly2438=)2318FLNCLikely benign765385925RCV001488380; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128496634128496634128496634-
NM_001458.5(FLNC):c.7315G>A (p.Val2439Met)2318FLNCConflicting interpretations of pathogenicity752667511RCV001342074|RCV002384463; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128496635128496635128496635-
NM_001458.5(FLNC):c.7319T>C (p.Ile2440Thr)2318FLNCUncertain significance764628080RCV000649115|RCV001771893|RCV002531938; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN517202|MeSH:D030342,MedGen:C09501237128496639128496639NC_000007.13:g.128496639T>CClinGen:CA4476234C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7323T>A (p.Asp2441Glu)2318FLNCUncertain significance752106552RCV002041534; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128496643128496643128496643-
NM_001458.5(FLNC):c.7324G>T (p.Ala2442Ser)2318FLNCUncertain significance1160639957RCV001903411|RCV002512164; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C36619007128496644128496644128496644-
NM_001458.5(FLNC):c.7327C>T (p.Arg2443Trp)2318FLNCUncertain significance1585171621RCV000821026|RCV003279112; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284966471284966477:g.128496647C>T-
NM_001458.5(FLNC):c.7328G>A (p.Arg2443Gln)2318FLNCConflicting interpretations of pathogenicity370293647RCV000544906|RCV002491082|RCV002530188; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:60952471284966481284966487:g.128496648G>AClinGen:CA4476237C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7328G>C (p.Arg2443Pro)2318FLNCUncertain significance370293647RCV001989792; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128496648128496648128496648-
NM_001458.5(FLNC):c.7338_7339del (p.Pro2447fs)2318FLNCPathogenic1585171628RCV000816664; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284966531284966547:g.128496653_128496654del-
NM_001458.5(FLNC):c.7339C>A (p.Pro2447Thr)2318FLNCUncertain significance1554401770RCV000557431; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284966591284966597:g.128496659C>AClinGen:CA369216857C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7342T>G (p.Ser2448Ala)2318FLNCUncertain significance2128940146RCV001968391; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128496662128496662128496662-
NM_001458.5(FLNC):c.7343C>T (p.Ser2448Leu)2318FLNCLikely benign778500387RCV001037874; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284966631284966637:g.128496663C>T-
NM_001458.5(FLNC):c.7344G>A (p.Ser2448=)2318FLNCLikely benign376251952RCV000704603|RCV002386265; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284966641284966647:g.128496664G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7346G>A (p.Gly2449Glu)2318FLNCUncertain significance1322256692RCV002045473; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128496666128496666128496666-
NM_001458.5(FLNC):c.7347G>A (p.Gly2449=)2318FLNCLikely benign2128940153RCV002130773; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128496667128496667128496667-
NM_001458.5(FLNC):c.7349C>A (p.Ala2450Asp)2318FLNCUncertain significance1809071622RCV001205275; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284966691284966697:g.128496669C>A-
NM_001458.5(FLNC):c.7353G>A (p.Val2451=)2318FLNCLikely benign368607789RCV000649085|RCV002386091; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128496673128496673NC_000007.13:g.128496673G>AClinGen:CA4476243C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7363T>C (p.Tyr2455His)2318FLNCConflicting interpretations of pathogenicity371262238RCV001886220|RCV002386649; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128496683128496683128496683-
NM_001458.5(FLNC):c.7364A>G (p.Tyr2455Cys)2318FLNCConflicting interpretations of pathogenicity769298304RCV000816348|RCV001545325|RCV002381835; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN517202|MedGen:CN23073671284966841284966847:g.128496684A>G-
NM_001458.5(FLNC):c.7365C>A (p.Tyr2455Ter)2318FLNCPathogenic540386120RCV000807110; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284966851284966857:g.128496685C>A-
NM_001458.5(FLNC):c.7365C>T (p.Tyr2455=)2318FLNCLikely benign540386120RCV002117632|RCV003307962; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128496685128496685128496685-
NM_001458.5(FLNC):c.7366G>A (p.Val2456Ile)2318FLNCConflicting interpretations of pathogenicity770796119RCV000700251|RCV003163246|RCV003235361; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MedGen:CN51720271284966861284966867:g.128496686G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7371del (p.Glu2458fs)2318FLNCPathogenic1554401780RCV000559888|RCV001584364|RCV002384273; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN23073671284966911284966917:g.128496691_128496691delClinGen:CA658657727C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7379A>G (p.Asp2460Gly)2318FLNCUncertain significance2128940164RCV001902676; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128496699128496699128496699-
NM_001458.5(FLNC):c.7380C>T (p.Asp2460=)2318FLNCLikely benign1203087255RCV001412388; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128496700128496700128496700-
NM_001458.5(FLNC):c.7382G>A (p.Ser2461Asn)2318FLNCUncertain significance550547714RCV000267784|RCV000699663|RCV002379116; NMedGen:CN517202|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284967021284967027:g.128496702G>AClinGen:CA4476246C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7384+2T>C2318FLNCLikely pathogenic112941619RCV001977501; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128496706128496706128496706-
NM_001458.5(FLNC):c.7384+5G>A2318FLNCLikely benign766570592RCV002093461|RCV003161452; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128496709128496709128496709-
NM_001458.5(FLNC):c.7384+12C>G2318FLNCLikely benign-1RCV002716202; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128496716128496716NC_000007.13:g.128496716C>G-
NM_001458.5(FLNC):c.7384+15C>T2318FLNCLikely benign775641997RCV002101498; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128496719128496719128496719-
NM_001458.5(FLNC):c.7384+17C>G2318FLNCLikely benign2128940177RCV002110227; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128496721128496721128496721-
NM_001458.5(FLNC):c.7385-15A>C2318FLNCLikely benign-1RCV002927216; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128496784128496784NC_000007.13:g.128496784A>C-
NM_001458.5(FLNC):c.7385-10T>C2318FLNCLikely benign1585171813RCV001492315; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284967891284967897:g.128496789T>C-
NM_001458.5(FLNC):c.7385-5C>T2318FLNCBenign367793265RCV000533610|RCV000612904|RCV002384214; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN169374|MedGen:CN2307367128496794128496794NC_000007.13:g.128496794C>TClinGen:CA4476264C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7386C>G (p.Asp2462Glu)2318FLNCUncertain significance2128940208RCV002046478; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128496800128496800128496800-
NM_001458.5(FLNC):c.7387A>G (p.Lys2463Glu)2318FLNCUncertain significance-1RCV002629848|RCV003162092; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128496801128496801NC_000007.13:g.128496801A>G-
NM_001458.5(FLNC):c.7389G>A (p.Lys2463=)2318FLNCLikely benign2128940211RCV001428844; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128496803128496803128496803-
NM_001458.5(FLNC):c.7390C>G (p.His2464Asp)2318FLNCLikely benign1269055454RCV000819839; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284968041284968047:g.128496804C>G-
NM_001458.5(FLNC):c.7393A>G (p.Thr2465Ala)2318FLNCUncertain significance-1RCV003076775; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128496807128496807NC_000007.13:g.128496807A>G-
NM_001458.5(FLNC):c.7399C>T (p.Arg2467Cys)2318FLNCUncertain significance1278916117RCV000649096|RCV001529127|RCV002386092; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN517202|MedGen:CN2307367128496813128496813NC_000007.13:g.128496813C>TClinGen:CA369217234C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7399C>G (p.Arg2467Gly)2318FLNCUncertain significance-1RCV002716204; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128496813128496813NC_000007.13:g.128496813C>G-
NM_001458.5(FLNC):c.7400G>A (p.Arg2467His)2318FLNCUncertain significance775910704RCV000649077|RCV003162965; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128496814128496814NC_000007.13:g.128496814G>AClinGen:CA4476267C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7400G>C (p.Arg2467Pro)2318FLNCUncertain significance775910704RCV001298174; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128496814128496814128496814-
NM_001458.5(FLNC):c.7401C>T (p.Arg2467=)2318FLNCLikely benign-1RCV003054076; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128496815128496815-
NM_001458.5(FLNC):c.7411C>A (p.His2471Asn)2318FLNCUncertain significance768896980RCV001244006; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284968251284968257:g.128496825C>A-
NM_001458.5(FLNC):c.7413C>T (p.His2471=)2318FLNCLikely benign774524427RCV000902470|RCV002264069|RCV002382055; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN23073671284968271284968277:g.128496827C>T-
NM_001458.5(FLNC):c.7414G>A (p.Glu2472Lys)2318FLNCUncertain significance948675422RCV001211298|RCV002272408|RCV003163607; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:61704771284968281284968287:g.128496828G>A-
NM_001458.5(FLNC):c.7414G>T (p.Glu2472Ter)2318FLNCPathogenic948675422RCV001984735; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128496828128496828128496828-
NM_001458.5(FLNC):c.7416G>A (p.Glu2472=)2318FLNCLikely benign1241565627RCV002108178; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128496830128496830128496830-
NM_001458.5(FLNC):c.7420G>C (p.Gly2474Arg)2318FLNCUncertain significance-1RCV003025282; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128496834128496834NC_000007.13:g.128496834G>C-
NM_001458.5(FLNC):c.7422C>T (p.Gly2474=)2318FLNCLikely benign755019331RCV002197261|RCV002382298; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128496836128496836128496836-
NM_001458.5(FLNC):c.7423G>A (p.Val2475Ile)2318FLNCConflicting interpretations of pathogenicity191224002RCV000824378|RCV002381885; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284968371284968377:g.128496837G>A-
NM_001458.5(FLNC):c.7430C>T (p.Ser2477Phe)2318FLNCUncertain significance2128940229RCV001993623; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128496844128496844128496844-
NM_001458.5(FLNC):c.7430C>A (p.Ser2477Tyr)2318FLNCUncertain significance-1RCV003008333; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128496844128496844NC_000007.13:g.128496844C>A-
NM_001458.5(FLNC):c.7432A>G (p.Ile2478Val)2318FLNCUncertain significance1430261045RCV000545111; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128496846128496846NC_000007.13:g.128496846A>GClinGen:CA369217343C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7434C>T (p.Ile2478=)2318FLNCLikely benign773767211RCV000963588|RCV002505453; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:60952471284968481284968487:g.128496848C>T-
NM_001458.5(FLNC):c.7437T>C (p.Asp2479=)2318FLNCLikely benign1390623169RCV001422856; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128496851128496851128496851-
NM_001458.5(FLNC):c.7439T>C (p.Val2480Ala)2318FLNCUncertain significance1376119645RCV001324847|RCV002384432; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128496853128496853128496853-
NM_001458.5(FLNC):c.7440C>T (p.Val2480=)2318FLNCLikely benign1585171905RCV001406539|RCV002382208; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN23073671284968541284968547:g.128496854C>T-
NM_001458.5(FLNC):c.7443G>A (p.Lys2481=)2318FLNCLikely benign1457672866RCV000983746|RCV002382217; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN23073671284968571284968577:g.128496857G>A-
NM_001458.5(FLNC):c.7446C>T (p.Phe2482=)2318FLNCLikely benign-1RCV002609911; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128496860128496860-
NM_001458.5(FLNC):c.7449C>T (p.Asn2483=)2318FLNCLikely benign761006044RCV000557651|RCV002384215|RCV002476185; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MONDO:MONDO:0012289,MedGen:C18371284968631284968637:g.128496863C>TClinGen:CA4476274C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7450G>A (p.Gly2484Ser)2318FLNCUncertain significance778922568RCV000533813|RCV002384216|RCV002491083|RCV003144359; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN230736|MONDO:MONDO:0014883,MedGen:C43171284968641284968647:g.128496864G>AClinGen:CA4476275C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7455C>G (p.Ala2485=)2318FLNCUncertain significance1554401819RCV000550977; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284968691284968697:g.128496869C>GClinGen:CA457590387C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7458C>T (p.His2486=)2318FLNCLikely benign752390410RCV001719004|RCV002065403|RCV003352940; NMedGen:C3661900|MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284968721284968727:g.128496872C>TClinGen:CA4476276CN169374 not specified;
NM_001458.5(FLNC):c.7459A>G (p.Ile2487Val)2318FLNCUncertain significance-1RCV002385139|RCV003099643; NMedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128496873128496873128496873-
NM_001458.5(FLNC):c.7462C>T (p.Pro2488Ser)2318FLNCUncertain significance1563005191RCV000690415; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284968761284968767:g.128496876C>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7466G>A (p.Gly2489Glu)2318FLNCUncertain significance2128940243RCV002021434; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128496880128496880128496880-
NM_001458.5(FLNC):c.7483C>T (p.Arg2495Cys)2318FLNCUncertain significance374925943RCV001794830|RCV001885218; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128496897128496897128496897-
NM_001458.5(FLNC):c.7484G>A (p.Arg2495His)2318FLNCConflicting interpretations of pathogenicity757219498RCV000649136|RCV002388126; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284968981284968987:g.128496898G>AClinGen:CA4476280C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7485C>T (p.Arg2495=)2318FLNCLikely benign781056503RCV000874606|RCV001549321; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C366190071284968991284968997:g.128496899C>T-
NM_001458.5(FLNC):c.7486G>T (p.Val2496Phe)2318FLNCUncertain significance200295337RCV000785096|RCV002388412|RCV002535719; NMedGen:CN169374|MedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284969001284969007:g.128496900G>T-
NM_001458.5(FLNC):c.7486G>A (p.Val2496Ile)2318FLNCConflicting interpretations of pathogenicity200295337RCV001898821|RCV002388804; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128496900128496900128496900-
NM_001458.5(FLNC):c.7487T>C (p.Val2496Ala)2318FLNCUncertain significance1284210024RCV001044988|RCV003314664; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN51720271284969011284969017:g.128496901T>C-
NM_001458.5(FLNC):c.7491G>A (p.Gly2497=)2318FLNCLikely benign367843476RCV001391907|RCV002395877; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128496905128496905128496905-
NM_001458.5(FLNC):c.7494G>A (p.Glu2498=)2318FLNCLikely benign749544147RCV001484386|RCV002396154; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128496908128496908128496908-
NM_001458.5(FLNC):c.7496_7497insTGCT (p.Gln2499fs)2318FLNCPathogenic1554401830RCV000649061; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128496910128496911NC_000007.13:g.128496910_128496911insTGCTClinGen:CA658797006C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7499G>A (p.Ser2500Asn)2318FLNCConflicting interpretations of pathogenicity371244800RCV000696812|RCV001585638|RCV002388272; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN2307367128496913128496913NC_000007.13:g.128496913G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7503G>A (p.Gln2501=)2318FLNCLikely benign1270240455RCV002129519|RCV002391256; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128496917128496917128496917-
NM_001458.5(FLNC):c.7504G>A (p.Ala2502Thr)2318FLNCUncertain significance2128940257RCV001940569; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128496918128496918128496918-
NM_001458.5(FLNC):c.7507G>A (p.Gly2503Arg)2318FLNCUncertain significance2128940258RCV001363498; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128496921128496921128496921-
NM_001458.5(FLNC):c.7510del (p.Asp2504fs)2318FLNCPathogenic2128940259RCV001933828; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128496921128496921128496920-
NM_001458.5(FLNC):c.7509G>A (p.Gly2503=)2318FLNCLikely benign-1RCV003009461; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128496923128496923-
NM_001458.5(FLNC):c.7516G>A (p.Gly2506Ser)2318FLNCUncertain significance1809085479RCV001204722; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284969301284969307:g.128496930G>A-
NM_001458.5(FLNC):c.7516G>C (p.Gly2506Arg)2318FLNCUncertain significance1809085479RCV001866741; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128496930128496930128496930-
NM_001458.5(FLNC):c.7523T>G (p.Val2508Gly)2318FLNCUncertain significance2128940265RCV001974442; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128496937128496937128496937-
NM_001458.5(FLNC):c.7526_7527delinsAG (p.Ser2509Ter)2318FLNCPathogenic1809085817RCV001214644; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128496940128496941NC_000007.13:g.128496940_128496941delinsAG-
NM_001458.5(FLNC):c.7529C>T (p.Ala2510Val)2318FLNCUncertain significance1809086035RCV001057717; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284969431284969437:g.128496943C>T-
NM_001458.5(FLNC):c.7533C>T (p.Tyr2511=)2318FLNCBenign/Likely benign376806697RCV000558972|RCV001697308|RCV002395440; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN23073671284969471284969477:g.128496947C>TClinGen:CA4476287C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7536_7548del (p.Pro2513fs)2318FLNCPathogenic1554401837RCV000649171; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128496949128496961NC_000007.13:g.128496950_128496962delClinGen:CA658797007C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7539T>C (p.Pro2513=)2318FLNCLikely benign-1RCV002636510; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128496953128496953-
NM_001458.5(FLNC):c.7545C>T (p.Leu2515=)2318FLNCBenign369791058RCV000535162|RCV000608792|RCV001702514|RCV002395441; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN169374|MedGen:C3661900|MedGen:CN23073671284969591284969597:g.128496959C>TClinGen:CA4476288C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7546G>A (p.Glu2516Lys)2318FLNCUncertain significance373691962RCV000686476|RCV002388199|RCV003144485; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310|MedGen:CN230736|MedGen:CN5172027128496960128496960NC_000007.13:g.128496960G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7551A>G (p.Gly2517=)2318FLNCLikely benign1283157933RCV001472035; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284969651284969657:g.128496965A>G-
NM_001458.5(FLNC):c.7554C>T (p.Gly2518=)2318FLNCUncertain significance761216494RCV002025325|RCV002272554; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C36619007128496968128496968128496968-
NM_001458.5(FLNC):c.7556C>A (p.Thr2519Asn)2318FLNCUncertain significance-1RCV002886121; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128496970128496970NC_000007.13:g.128496970C>A-
NM_001458.5(FLNC):c.7559C>A (p.Thr2520Asn)2318FLNCLikely pathogenic1809086992RCV001325407; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128496973128496973128496973-
NM_001458.5(FLNC):c.7560C>T (p.Thr2520=)2318FLNCConflicting interpretations of pathogenicity527921534RCV000547791|RCV000786412|RCV003159900; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|MedGen:CN23073671284969741284969747:g.128496974C>TClinGen:CA4476292C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7561G>A (p.Gly2521Ser)2318FLNCUncertain significance746969946RCV001352043|RCV002395782; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128496975128496975128496975-
NM_001458.5(FLNC):c.7561G>C (p.Gly2521Arg)2318FLNCUncertain significance-1RCV003011774|RCV003274137; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128496975128496975NC_000007.13:g.128496975G>C-
NM_001458.5(FLNC):c.7561+7G>T2318FLNCLikely benign1040480789RCV002196351; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128496982128496982128496982-
NM_001458.5(FLNC):c.7561+11G>A2318FLNCLikely benign-1RCV003024977; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128496986128496986NC_000007.13:g.128496986G>A-
NM_001458.5(FLNC):c.7561+14G>A2318FLNCLikely benign-1RCV002582186; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128496989128496989NC_000007.13:g.128496989G>A-
NM_001458.5(FLNC):c.7562-17C>T2318FLNCLikely benign571573294RCV002203627; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128497155128497155128497155-
NM_001458.5(FLNC):c.7562-11C>G2318FLNCLikely benign-1RCV002685953; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128497161128497161NC_000007.13:g.128497161C>G-
NM_001458.5(FLNC):c.7562-6C>T2318FLNCLikely benign1450761866RCV002168784; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128497166128497166128497166-
NM_001458.5(FLNC):c.7562-5C>T2318FLNCBenign773923745RCV000943830|RCV001644863; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C366190071284971671284971677:g.128497167C>T-
NM_001458.5(FLNC):c.7562-2_7581dup2318FLNCUncertain significance1809097279RCV001241455; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284971681284971697:g.128497168_128497169insCAGGTGTGTCATCAGAGTTCAT-
NM_001458.5(FLNC):c.7562-4C>T2318FLNCLikely benign1809097044RCV002101378; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128497168128497168128497168-
NM_001458.5(FLNC):c.7562-3C>T2318FLNCUncertain significance1358745378RCV002043457; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128497169128497169128497169-
NM_001458.5(FLNC):c.7562-3C>G2318FLNCUncertain significance-1RCV002838680; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128497169128497169NC_000007.13:g.128497169C>G-
NM_001458.5(FLNC):c.7562-1_7612dup2318FLNCPathogenic-1RCV002899966; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128497170128497171NC_000007.13:g.128497171_128497222dup-
NM_001458.5(FLNC):c.7562-1G>A2318FLNCLikely pathogenic2128940335RCV001379084; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128497171128497171128497171-
NM_001458.5(FLNC):c.7564G>A (p.Val2522Met)2318FLNCUncertain significance780917403RCV001058406|RCV002393281; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284971741284971747:g.128497174G>A-
NM_001458.5(FLNC):c.7565T>C (p.Val2522Ala)2318FLNCUncertain significance-1RCV002949490; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128497175128497175NC_000007.13:g.128497175T>C-
NM_001458.5(FLNC):c.7571del (p.Ser2523_Ser2524insTer)2318FLNCPathogenic1809097778RCV001205002; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284971811284971817:g.128497181_128497181del-
NM_001458.5(FLNC):c.7575G>A (p.Glu2525=)2318FLNCLikely benign2128940338RCV001426082; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128497185128497185128497185-
NM_001458.5(FLNC):c.7576T>A (p.Phe2526Ile)2318FLNCUncertain significance373973635RCV001962495|RCV002223330|RCV002388886; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C3661900|MedGen:CN2307367128497186128497186128497186-
NM_001458.5(FLNC):c.7580T>C (p.Ile2527Thr)2318FLNCUncertain significance749891076RCV000694476|RCV001766495|RCV003163180; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN517202|MeSH:D030342,MedGen:C09501237128497190128497190NC_000007.13:g.128497190T>C-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7580T>G (p.Ile2527Ser)2318FLNCUncertain significance749891076RCV001935289; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128497190128497190128497190-
NM_001458.5(FLNC):c.7581C>T (p.Ile2527=)2318FLNCLikely benign988685183RCV001468004|RCV002396107; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128497191128497191128497191-
NM_001458.5(FLNC):c.7581del (p.Ile2527fs)2318FLNCLikely pathogenic-1RCV003333217|RCV003333215|RCV003333216|RCV003164444; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS115200, Orphanet:21767128497191128497191-
NM_001458.5(FLNC):c.7582G>A (p.Val2528Met)2318FLNCUncertain significance1317229834RCV001220828; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284971921284971927:g.128497192G>A-
NM_001458.5(FLNC):c.7584G>A (p.Val2528=)2318FLNCLikely benign1809098607RCV001431547; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128497194128497194128497194-
NM_001458.5(FLNC):c.7587C>T (p.Asn2529=)2318FLNCLikely benign2128940345RCV002179950; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128497197128497197128497197-
NM_001458.5(FLNC):c.7588A>G (p.Thr2530Ala)2318FLNCUncertain significance760694025RCV001998733; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128497198128497198128497198-
NM_001458.5(FLNC):c.7589C>A (p.Thr2530Asn)2318FLNCUncertain significance766492460RCV001371537; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128497199128497199128497199-
NM_001458.5(FLNC):c.7590C>T (p.Thr2530=)2318FLNCLikely benign-1RCV002394160|RCV003099690; NMedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128497200128497200-
NM_001458.5(FLNC):c.7593G>A (p.Leu2531=)2318FLNCLikely benign-1RCV002857035; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128497203128497203-
NM_001458.5(FLNC):c.7596T>C (p.Asn2532=)2318FLNCLikely benign377522797RCV001411725|RCV002395932; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128497206128497206128497206-
NM_001458.5(FLNC):c.7596T>A (p.Asn2532Lys)2318FLNCUncertain significance377522797RCV001823809|RCV001885365|RCV002388686; NMedGen:CN169374|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128497206128497206128497206-
NM_001458.5(FLNC):c.7597G>C (p.Ala2533Pro)2318FLNCUncertain significance-1RCV002296336|RCV002391407; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128497207128497207128497207-
NM_001458.5(FLNC):c.7599C>T (p.Ala2533=)2318FLNCLikely benign1184080931RCV001501951; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128497209128497209128497209-
NM_001458.5(FLNC):c.7600G>T (p.Gly2534Cys)2318FLNCUncertain significance372504725RCV001930204|RCV003146282; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C36619007128497210128497210128497210-
NM_001458.5(FLNC):c.7601G>T (p.Gly2534Val)2318FLNCUncertain significance778822005RCV001905573; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128497211128497211128497211-
NM_001458.5(FLNC):c.7604C>T (p.Ser2535Leu)2318FLNCUncertain significance201895675RCV000697471|RCV003432742; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C366190071284972141284972147:g.128497214C>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7605G>A (p.Ser2535=)2318FLNCLikely benign777724201RCV000699140|RCV000998925|RCV002388294; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN517202|MedGen:CN23073671284972151284972157:g.128497215G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7606G>A (p.Gly2536Arg)2318FLNCUncertain significance1809100312RCV001044944; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284972161284972167:g.128497216G>A-
NM_001458.5(FLNC):c.7606G>C (p.Gly2536Arg)2318FLNCUncertain significance1809100312RCV001361496; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128497216128497216128497216-
NM_001458.5(FLNC):c.7609G>A (p.Ala2537Thr)2318FLNCConflicting interpretations of pathogenicity201486752RCV001671316|RCV001724383|RCV002539665; NMedGen:C3661900|MedGen:CN169374|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128497219128497219128497219-
NM_001458.5(FLNC):c.7610C>A (p.Ala2537Asp)2318FLNCUncertain significance1394723230RCV000528480|RCV003126816; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN51720271284972201284972207:g.128497220C>AClinGen:CA369219351C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7614G>T (p.Leu2538Phe)2318FLNCBenign/Likely benign180834558RCV000514907|RCV001082529|RCV002395233|RCV002490874; NMedGen:C3661900|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN230736|MONDO:MONDO:00171284972241284972247:g.128497224G>TClinGen:CA4476327C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7618G>C (p.Val2540Leu)2318FLNCUncertain significance746349463RCV000649163|RCV002388128|RCV003144443; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MedGen:C366190071284972281284972287:g.128497228G>CClinGen:CA4476328C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7626T>C (p.Ile2542=)2318FLNCLikely benign1554401890RCV001462193; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128497236128497236NC_000007.13:g.128497236T>CClinGen:CA457850288C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7626T>G (p.Ile2542Met)2318FLNCUncertain significance1554401890RCV000705448; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284972361284972367:g.128497236T>G-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7629T>C (p.Asp2543=)2318FLNCLikely benign1451167404RCV001491003; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN23931071284972391284972397:g.128497239T>C-
NM_001458.5(FLNC):c.7630G>A (p.Gly2544Ser)2318FLNCUncertain significance2128940366RCV002388945|RCV001997779; NMedGen:CN230736|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128497240128497240128497240-
NM_001458.5(FLNC):c.7632C>T (p.Gly2544=)2318FLNCLikely benign1297781614RCV000548003; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128497242128497242NC_000007.13:g.128497242C>TClinGen:CA457850313C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7635C>T (p.Pro2545=)2318FLNCLikely benign2128940367RCV001457352; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128497245128497245128497245-
NM_001458.5(FLNC):c.7636T>A (p.Ser2546Thr)2318FLNCUncertain significance200673841RCV000699971|RCV002388304; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284972461284972467:g.128497246T>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7644G>A (p.Val2548=)2318FLNCLikely benign1249860446RCV002136354; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128497254128497254128497254-
NM_001458.5(FLNC):c.7647G>T (p.Gln2549His)2318FLNCUncertain significance771689118RCV001051989; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284972571284972577:g.128497257G>T-
NM_001458.5(FLNC):c.7648C>T (p.Leu2550=)2318FLNCLikely benign1585172378RCV001412112; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284972581284972587:g.128497258C>T-
NM_001458.5(FLNC):c.7651G>C (p.Asp2551His)2318FLNCUncertain significance1187923021RCV000649172|RCV002388129; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128497261128497261NC_000007.13:g.128497261G>CClinGen:CA369219517C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7652A>G (p.Asp2551Gly)2318FLNCUncertain significance1040102987RCV001302586|RCV001724290; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN5172027128497262128497262128497262-
NM_001458.5(FLNC):c.7653C>T (p.Asp2551=)2318FLNCLikely benign2128940372RCV001437786|RCV002396006; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128497263128497263128497263-
NM_001458.5(FLNC):c.7656T>C (p.Cys2552=)2318FLNCLikely benign-1RCV003088071; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128497266128497266-
NM_001458.5(FLNC):c.7657C>T (p.Arg2553Trp)2318FLNCUncertain significance199519281RCV000699970|RCV001585646|RCV002485715|RCV002388303; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MONDO:MONDO:0012289,MedGen:C18371284972671284972677:g.128497267C>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7658G>A (p.Arg2553Gln)2318FLNCUncertain significance375213102RCV000693353|RCV002388246; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284972681284972687:g.128497268G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7660del (p.Glu2554fs)2318FLNCPathogenic1809103569RCV001069589; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284972681284972687:g.128497268_128497268del-
NM_001458.5(FLNC):c.7659G>C (p.Arg2553=)2318FLNCLikely benign1490653520RCV000649232; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284972691284972697:g.128497269G>CClinGen:CA457850401C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7664G>C (p.Cys2555Ser)2318FLNCUncertain significance1585172407RCV000797842; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN23931071284972741284972747:g.128497274G>C-
NM_001458.5(FLNC):c.7666C>T (p.Pro2556Ser)2318FLNCUncertain significance765967888RCV001206150; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284972761284972767:g.128497276C>T-
NM_001458.5(FLNC):c.7666C>G (p.Pro2556Ala)2318FLNCUncertain significance765967888RCV001906509|RCV002305633; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C36619007128497276128497276128497276-
NM_001458.5(FLNC):c.7667C>T (p.Pro2556Leu)2318FLNCUncertain significance1809104361RCV001886001; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128497277128497277128497277-
NM_001458.5(FLNC):c.7677T>C (p.His2559=)2318FLNCLikely benign200760961RCV001433284; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284972871284972877:g.128497287T>C-
NM_001458.5(FLNC):c.7679T>C (p.Val2560Ala)2318FLNCUncertain significance931678640RCV000803002; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284972891284972897:g.128497289T>C-
NM_001458.5(FLNC):c.7689T>C (p.Tyr2563=)2318FLNCLikely benign-1RCV003114752; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128497299128497299-
NM_001458.5(FLNC):c.7691C>T (p.Thr2564Ile)2318FLNCUncertain significance1405868407RCV001223954; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284973011284973017:g.128497301C>T-
NM_001458.5(FLNC):c.7693C>T (p.Pro2565Ser)2318FLNCUncertain significance1554401906RCV000649064; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128497303128497303NC_000007.13:g.128497303C>TClinGen:CA369219703C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7703C>T (p.Pro2568Leu)2318FLNCUncertain significance-1RCV002304933; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128497313128497313128497313-
NM_001458.5(FLNC):c.7709A>G (p.Asn2570Ser)2318FLNCUncertain significance1381739439RCV001342900|RCV002404801; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128497319128497319128497319-
NM_001458.5(FLNC):c.7709A>C (p.Asn2570Thr)2318FLNCUncertain significance-1RCV002991650|RCV003367942; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310|MedGen:CN2307367128497319128497319NC_000007.13:g.128497319A>C-
NM_001458.5(FLNC):c.7710C>T (p.Asn2570=)2318FLNCLikely benign370733196RCV001454739|RCV002405069; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128497320128497320128497320-
NM_001458.5(FLNC):c.7722C>T (p.Ala2574=)2318FLNCLikely benign1360192955RCV002171042; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128497332128497332128497332-
NM_001458.5(FLNC):c.7727A>C (p.Lys2576Thr)2318FLNCUncertain significance1554401912RCV000649070; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284973371284973377:g.128497337A>CClinGen:CA369219851C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7731C>T (p.Tyr2577=)2318FLNCLikely benign374072349RCV001474651|RCV002405118; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128497341128497341128497341-
NM_001458.5(FLNC):c.7732G>A (p.Gly2578Ser)2318FLNCUncertain significance566747845RCV000528662|RCV003144360|RCV002404523; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C3661900|MedGen:CN2307367128497342128497342NC_000007.13:g.128497342G>AClinGen:CA4476342C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7750_7769dup (p.Lys2591fs)2318FLNCPathogenic/Likely pathogenic2128940399RCV001387372|RCV003155406; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MONDO:MONDO:0016333,MedGen:C0340427,OMIM:PS11527128497358128497359128497358-
NM_001458.5(FLNC):c.7749C>T (p.Ile2583=)2318FLNCLikely benign781217114RCV001495754|RCV002405169; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128497359128497359128497359-
NM_001458.5(FLNC):c.7752G>A (p.Val2584=)2318FLNCLikely benign1809108536RCV002133157; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128497362128497362128497362-
NM_001458.5(FLNC):c.7755C>T (p.Gly2585=)2318FLNCLikely benign746404471RCV000945699|RCV001593137|RCV002409251; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C3661900|MedGen:CN23073671284973651284973657:g.128497365C>T-
NM_001458.5(FLNC):c.7757_7758delinsA (p.Ser2586fs)2318FLNCPathogenic1809109008RCV001243023; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284973671284973687:g.128497368_128497368del-
NM_001458.5(FLNC):c.7765A>G (p.Lys2589Glu)2318FLNCUncertain significance1809109347RCV001220403; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284973751284973757:g.128497375A>G-
NM_001458.5(FLNC):c.7768G>T (p.Ala2590Ser)2318FLNCUncertain significance1354641654RCV001995665; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128497378128497378128497378-
NM_001458.5(FLNC):c.7770C>A (p.Ala2590=)2318FLNCLikely benign2128940407RCV002077672; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128497380128497380128497380-
NM_001458.5(FLNC):c.7772A>G (p.Lys2591Arg)2318FLNCUncertain significance-1RCV002409775|RCV003099741|RCV003314731; NMedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN5172027128497382128497382128497382-
NM_001458.5(FLNC):c.7774G>T (p.Val2592Phe)2318FLNCUncertain significance1268909811RCV002025333; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128497384128497384128497384-
NM_001458.5(FLNC):c.7776C>T (p.Val2592=)2318FLNCLikely benign2128940410RCV001496075; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128497386128497386128497386-
NM_001458.5(FLNC):c.7780+1G>A2318FLNCLikely pathogenic1563005607RCV000706292; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128497391128497391NC_000007.13:g.128497391G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7780+1G>C2318FLNCLikely pathogenic1563005607RCV002001188; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128497391128497391128497391-
NM_001458.5(FLNC):c.7780+1G>T2318FLNCUncertain significance-1RCV003333587|RCV003333585|RCV003333586; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128497391128497391-
NM_001458.5(FLNC):c.7780+2T>C2318FLNCLikely pathogenic1809110247RCV001212384; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284973921284973927:g.128497392T>C-
NM_001458.5(FLNC):c.7780+2T>A2318FLNCLikely pathogenic-1RCV002857009; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128497392128497392NC_000007.13:g.128497392T>A-
NM_001458.5(FLNC):c.7780+3G>C2318FLNCUncertain significance-1RCV002880537; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128497393128497393NC_000007.13:g.128497393G>C-
NM_001458.5(FLNC):c.7780+10A>G2318FLNCBenign/Likely benign201149834RCV000117083|RCV000541257|RCV002262707; NMedGen:CN169374|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:C366190071284974001284974007:g.128497400A>GClinGen:CA152883C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7780+11G>C2318FLNCLikely benign-1RCV002908985; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128497401128497401NC_000007.13:g.128497401G>C-
NM_001458.5(FLNC):c.7780+12T>C2318FLNCLikely benign1809110821RCV002141853; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128497402128497402128497402-
NM_001458.5(FLNC):c.7780+15G>C2318FLNCLikely benign1428983586RCV002076463; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128497405128497405128497405-
NM_001458.5(FLNC):c.7780+15G>T2318FLNCLikely benign-1RCV002711978; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128497405128497405NC_000007.13:g.128497405G>T-
NM_001458.5(FLNC):c.7780+16G>C2318FLNCLikely benign-1RCV003060120; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128497406128497406NC_000007.13:g.128497406G>C-
NM_001458.5(FLNC):c.7780+19G>T2318FLNCLikely benign-1RCV003091488; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128497409128497409NC_000007.13:g.128497409G>T-
NM_001458.5(FLNC):c.7780+19G>A2318FLNCLikely benign-1RCV003109796; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128497409128497409NC_000007.13:g.128497409G>A-
NM_001458.5(FLNC):c.7780+20A>G2318FLNCLikely benign1287178307RCV002219316; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128497410128497410128497410-
NC_000007.13:g.(?_128498042)_(128498597_?)dup2318FLNCUncertain significance-1RCV000649275; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128498042128498597-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NC_000007.13:g.(?_128498042)_(128498291_?)dup2318FLNCUncertain significance-1RCV002036962; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128498042128498291-1-
NC_000007.13:g.(?_128498042)_(128498577_?)dup2318FLNCUncertain significance-1RCV001994994; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128498042128498577-1-
NM_001458.5(FLNC):c.7781-18C>T2318FLNCLikely benign-1RCV003075202; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128498044128498044NC_000007.13:g.128498044C>T-
NM_001458.5(FLNC):c.7781-16T>G2318FLNCLikely benign1418982837RCV002073728; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128498046128498046128498046-
NM_001458.5(FLNC):c.7781-12C>A2318FLNCLikely benign767606683RCV002128456; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128498050128498050128498050-
NC_000007.13:g.(?_128498052)_(128498587_?)dup2318FLNCUncertain significance-1RCV000794816; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128498052128498587-
NM_001458.5(FLNC):c.7781-10C>T2318FLNCLikely benign1425396629RCV001442167; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128498052128498052128498052-
NM_001458.5(FLNC):c.7781-9A>G2318FLNCBenign531760477RCV000873058|RCV003432835; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C366190071284980531284980537:g.128498053A>G-
NM_001458.5(FLNC):c.7781-8C>A2318FLNCLikely benign1363938739RCV001398114; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128498054128498054128498054-
NM_001458.5(FLNC):c.7781-8C>G2318FLNCUncertain significance1363938739RCV002038371; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128498054128498054128498054-
NM_001458.5(FLNC):c.7781-4T>C2318FLNCLikely benign2128940565RCV001392830; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128498058128498058128498058-
NM_001458.5(FLNC):c.7781-3C>T2318FLNCUncertain significance1444704657RCV000649227; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284980591284980597:g.128498059C>TClinGen:CA578151160C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7782T>C (p.Gly2594=)2318FLNCLikely benign2128940567RCV001411969; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128498063128498063128498063-
NM_001458.5(FLNC):c.7784C>T (p.Pro2595Leu)2318FLNCUncertain significance756144972RCV000481218|RCV001345004; NMedGen:CN517202|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284980651284980657:g.128498065C>TClinGen:CA4476365CN169374 not specified;
NM_001458.5(FLNC):c.7785G>A (p.Pro2595=)2318FLNCLikely benign780670412RCV002060767|RCV003303063|RCV003432689; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MedGen:C366190071284980661284980667:g.128498066G>AClinGen:CA4476366C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7791G>A (p.Leu2597=)2318FLNCLikely benign-1RCV002814814; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128498072128498072-
NM_001458.5(FLNC):c.7794C>T (p.Ser2598=)2318FLNCLikely benign1013763254RCV001426588; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN23931071284980751284980757:g.128498075C>T-
NM_001458.5(FLNC):c.7797A>G (p.Gly2599=)2318FLNCLikely benign1317108204RCV001465854|RCV002414120; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128498078128498078128498078-
NM_001458.5(FLNC):c.7803C>T (p.His2601=)2318FLNCLikely benign749737805RCV000553877|RCV002413601; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN2307367128498084128498084NC_000007.13:g.128498084C>TClinGen:CA4476367C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7807C>T (p.Leu2603Phe)2318FLNCUncertain significance746685461RCV001242034|RCV002411892|RCV003145467; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|MedGen:CN51720271284980881284980887:g.128498088C>T-
NM_001458.5(FLNC):c.7812C>T (p.His2604=)2318FLNCLikely benign770653559RCV002107212|RCV002407334; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128498093128498093128498093-
NM_001458.5(FLNC):c.7813G>A (p.Glu2605Lys)2318FLNCUncertain significance1480530077RCV000649105; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284980941284980947:g.128498094G>AClinGen:CA369220064C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7819T>G (p.Ser2607Ala)2318FLNCUncertain significance1809143753RCV001340153; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128498100128498100128498100-
NM_001458.5(FLNC):c.7823C>T (p.Thr2608Met)2318FLNCUncertain significance1175931652RCV000793421|RCV001766630|RCV002507364|RCV003166103|RCV003235397; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN517202|MONDO:MONDO:0013550,MedGen:C32771284981041284981047:g.128498104C>T-
NM_001458.5(FLNC):c.7824G>A (p.Thr2608=)2318FLNCLikely benign776281149RCV001240232; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284981051284981057:g.128498105G>A-
NM_001458.5(FLNC):c.7830G>C (p.Leu2610=)2318FLNCLikely benign1032374300RCV000649254; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284981111284981117:g.128498111G>CClinGen:CA166196082C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7832T>G (p.Val2611Gly)2318FLNCUncertain significance2128940575RCV001366235; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128498113128498113128498113-
NM_001458.5(FLNC):c.7834G>A (p.Glu2612Lys)2318FLNCUncertain significance1183050599RCV000530031|RCV000786136; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN51720271284981151284981157:g.128498115G>AClinGen:CA369220120C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7836G>C (p.Glu2612Asp)2318FLNCUncertain significance-1RCV002295704; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128498117128498117128498117-
NM_001458.5(FLNC):c.7841_7842del (p.Val2614fs)2318FLNCPathogenic/Likely pathogenic1554402003RCV000797152|RCV001535530|RCV003141783; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:61406571284981201284981217:g.128498120_128498121del-
NM_001458.5(FLNC):c.7840G>A (p.Val2614Met)2318FLNCUncertain significance745434129RCV001316094|RCV002412014; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128498121128498121128498121-
NM_001458.5(FLNC):c.7847A>C (p.Lys2616Thr)2318FLNCUncertain significance1585172975RCV001895295; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128498128128498128128498128-
NM_001458.5(FLNC):c.7861C>T (p.Arg2621Trp)2318FLNCUncertain significance1411832198RCV000805257; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284981421284981427:g.128498142C>T-
NM_001458.5(FLNC):c.7862G>A (p.Arg2621Gln)2318FLNCConflicting interpretations of pathogenicity201636548RCV000178623|RCV001082971|RCV002408773|RCV003150053; NMedGen:C3661900|MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|Human Phenotype71284981431284981437:g.128498143G>AClinGen:CA245809C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7864G>T (p.Gly2622Cys)2318FLNCUncertain significance2128940583RCV001989187; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128498145128498145128498145-
NM_001458.5(FLNC):c.7866C>T (p.Gly2622=)2318FLNCLikely benign-1RCV002412250|RCV003103445; NMedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128498147128498147-
NM_001458.5(FLNC):c.7869C>T (p.Ser2623=)2318FLNCLikely benign-1RCV003064174; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128498150128498150-
NM_001458.5(FLNC):c.7875C>T (p.Tyr2625=)2318FLNCLikely benign373614270RCV000876085|RCV002409112; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284981561284981567:g.128498156C>T-
NM_001458.5(FLNC):c.7877G>A (p.Ser2626Asn)2318FLNCConflicting interpretations of pathogenicity2639142RCV000700197|RCV001585647; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C366190071284981581284981587:g.128498158G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7893CTC[1] (p.Ser2633del)2318FLNCUncertain significance767277303RCV001036904; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284981741284981767:g.128498174_128498176del-
NM_001458.5(FLNC):c.7903G>A (p.Ala2635Thr)2318FLNCUncertain significance1009545372RCV000792668; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN23931071284981841284981847:g.128498184G>A-
NM_001458.5(FLNC):c.7906A>T (p.Ser2636Cys)2318FLNCUncertain significance1563005954RCV000688514; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284981871284981877:g.128498187A>T-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7907G>T (p.Ser2636Ile)2318FLNCUncertain significance1424306829RCV001295785|RCV003166645; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:CN2307367128498188128498188128498188-
NM_001458.5(FLNC):c.7911G>A (p.Lys2637=)2318FLNCLikely benign-1RCV003076837; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128498192128498192-
NM_001458.5(FLNC):c.7915G>A (p.Val2639Met)2318FLNCUncertain significance2128940599RCV002000718; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128498196128498196128498196-
NM_001458.5(FLNC):c.7921C>T (p.Arg2641Trp)2318FLNCUncertain significance750629528RCV001196060|RCV001863100; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:61704771284982021284982027:g.128498202C>T-
NM_001458.5(FLNC):c.7922G>A (p.Arg2641Gln)2318FLNCUncertain significance760857362RCV000516343|RCV000816284; NMedGen:CN169374|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128498203128498203NC_000007.13:g.128498203G>AClinGen:CA4476382CN169374 not specified;
NM_001458.5(FLNC):c.7925del (p.Gly2642fs)2318FLNCLikely pathogenic-1RCV003147882|RCV003147880|RCV003147881; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128498203128498203-
NM_001458.5(FLNC):c.7929del (p.Leu2645fs)2318FLNCPathogenic/Likely pathogenic1554402015RCV000649164|RCV003311868; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:C36619007128498210128498210NC_000007.13:g.128498210delClinGen:CA658797008C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7929T>C (p.Pro2643=)2318FLNCLikely benign-1RCV002620057; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128498210128498210-
NM_001458.5(FLNC):c.7931G>C (p.Gly2644Ala)2318FLNCUncertain significance2128940603RCV001372611; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128498212128498212128498212-
NM_001458.5(FLNC):c.7933C>T (p.Leu2645=)2318FLNCLikely benign571671091RCV001392173|RCV002420501; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284982141284982147:g.128498214C>TClinGen:CA4476383C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7934T>C (p.Leu2645Pro)2318FLNCUncertain significance-1RCV002996350; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128498215128498215NC_000007.13:g.128498215T>C-
NM_001458.5(FLNC):c.7935G>A (p.Leu2645=)2318FLNCLikely benign754397217RCV002073702; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128498216128498216128498216-
NM_001458.5(FLNC):c.7946T>C (p.Phe2649Ser)2318FLNCUncertain significance755387909RCV001221479|RCV002418763|RCV002484204; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN230736|MONDO:MONDO:0014883,MedGen:C43171284982271284982277:g.128498227T>C-
NM_001458.5(FLNC):c.7947C>T (p.Phe2649=)2318FLNCBenign/Likely benign368849358RCV000244124|RCV000542823|RCV000578026|RCV000578028|RCV000577968|RCV000578102|RCV000578104|RCV001697691|RCV002418082; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0012289,MedGen:C1837128498228128498228NC_000007.13:g.128498228C>TClinGen:CA4476386C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7948G>A (p.Val2650Met)2318FLNCUncertain significance372172779RCV000697305|RCV002422538|RCV002485698|RCV003144538; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|MONDO:MONDO:0012289,MedGen:C18371284982291284982297:g.128498229G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7949T>A (p.Val2650Glu)2318FLNCUncertain significance-1RCV002617280; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128498230128498230NC_000007.13:g.128498230T>A-
NM_001458.5(FLNC):c.7971C>T (p.Thr2657=)2318FLNCLikely benign758833148RCV000897051|RCV002416108; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284982521284982527:g.128498252C>T-
NM_001458.5(FLNC):c.7972G>A (p.Val2658Met)2318FLNCUncertain significance1269145751RCV000559964|RCV002223225|RCV002420502; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN23073671284982531284982537:g.128498253G>AClinGen:CA369220752C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7980C>A (p.Cys2660Ter)2318FLNCPathogenic2128940614RCV002007281; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128498261128498261128498261-
NM_001458.5(FLNC):c.7990+9C>T2318FLNCBenign/Likely benign566679569RCV000439956|RCV000531620|RCV001700113; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C366190071284982801284982807:g.128498280C>TClinGen:CA4476391C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7990+15dup2318FLNCBenign-1RCV003088404; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128498280128498281NC_000007.13:g.128498286dup-
NM_001458.5(FLNC):c.7990+10G>A2318FLNCLikely benign745488329RCV000649233; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128498281128498281NC_000007.13:g.128498281G>AClinGen:CA4476394C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7990+10G>C2318FLNCLikely benign745488329RCV002154114; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128498281128498281128498281-
NM_001458.5(FLNC):c.7990+15del2318FLNCLikely benign755806046RCV002108495; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128498281128498281128498280-
NM_001458.5(FLNC):c.7990+11G>C2318FLNCLikely benign779393533RCV002199102; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128498282128498282128498282-
NM_001458.5(FLNC):c.7990+11G>A2318FLNCUncertain significance-1RCV002663955; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128498282128498282NC_000007.13:g.128498282G>A-
NM_001458.5(FLNC):c.7990+19G>T2318FLNCBenign/Likely benign534098005RCV002101936|RCV003403705; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN1693747128498290128498290128498290-
NM_001458.5(FLNC):c.7990+20C>T2318FLNCLikely benign1554402030RCV000605553|RCV002062809; NMedGen:CN169374|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN23931071284982911284982917:g.128498291C>TClinGen:CA658797009CN169374 not specified;
NM_001458.5(FLNC):c.7991-19C>T2318FLNCLikely benign537052947RCV000429225|RCV001702482|RCV001865376; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284983711284983717:g.128498371C>TClinGen:CA4476408CN169374 not specified;
NC_000007.14:g.(?_128858326)_(128858533_?)del2318FLNCUncertain significance-1RCV001032715; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128498380128498587-1-
NM_001458.5(FLNC):c.7991-8C>T2318FLNCLikely benign-1RCV002710878; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128498382128498382NC_000007.13:g.128498382C>T-
NM_001458.5(FLNC):c.7991-4C>G2318FLNCLikely benign1303400196RCV000935587; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN23931071284983861284983867:g.128498386C>G-
NM_001458.5(FLNC):c.7991-3C>T2318FLNCUncertain significance-1RCV002740867; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128498387128498387NC_000007.13:g.128498387C>T-
NM_001458.5(FLNC):c.7995C>A (p.Thr2665=)2318FLNCLikely benign2128940644RCV002136127; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128498394128498394128498394-
NM_001458.5(FLNC):c.7998C>T (p.Asn2666=)2318FLNCLikely benign778253796RCV001466225|RCV002421059; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN2307367128498397128498397128498397-
NM_001458.5(FLNC):c.7999ATG[2] (p.Met2669del)2318FLNCUncertain significance1809158348RCV001344746; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128498398128498400128498397-
NM_001458.5(FLNC):c.8003T>C (p.Met2668Thr)2318FLNCConflicting interpretations of pathogenicity200502811RCV000194945|RCV000726864|RCV001083390|RCV002415824; NMedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284984021284984027:g.128498402T>CClinGen:CA209448C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.8013C>T (p.Gly2671=)2318FLNCLikely benign369678123RCV001217767|RCV001698277|RCV002418316; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:C3661900|MedGen:CN23073671284984121284984127:g.128498412C>TClinGen:CA4476411CN169374 not specified;
NM_001458.5(FLNC):c.8014G>A (p.Val2672Met)2318FLNCUncertain significance-1RCV002583565; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128498413128498413NC_000007.13:g.128498413G>A-
NM_001458.5(FLNC):c.8016G>A (p.Val2672=)2318FLNCLikely benign-1RCV002419237|RCV003099818; NMedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128498415128498415-
NM_001458.5(FLNC):c.8019C>G (p.His2673Gln)2318FLNCUncertain significance112180788RCV000689353|RCV002422487|RCV003144501; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|MedGen:CN51720271284984181284984187:g.128498418C>G-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.8019C>T (p.His2673=)2318FLNCLikely benign112180788RCV001401855|RCV002416055; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284984181284984187:g.128498418C>T-
NM_001458.5(FLNC):c.8020G>A (p.Gly2674Ser)2318FLNCUncertain significance372338218RCV000687415|RCV002422476; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284984191284984197:g.128498419G>A-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.8023C>T (p.Pro2675Ser)2318FLNCUncertain significance1563006093RCV001931620; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128498422128498422128498422-
NM_001458.5(FLNC):c.8028G>A (p.Lys2676=)2318FLNCLikely benign-1RCV002885098; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128498427128498427-
NM_001458.5(FLNC):c.8033C>T (p.Pro2678Leu)2318FLNCUncertain significance-1RCV002790661; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128498432128498432NC_000007.13:g.128498432C>T-
NM_001458.5(FLNC):c.8047T>A (p.Tyr2683Asn)2318FLNCUncertain significance1377893206RCV001054642|RCV003283915; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN23073671284984461284984467:g.128498446T>A-
NM_001458.5(FLNC):c.8049C>T (p.Tyr2683=)2318FLNCBenign/Likely benign183104951RCV000434127|RCV000556768|RCV002418284|RCV003311811; NMedGen:CN169374|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736|MedGen:C366190071284984481284984487:g.128498448C>TClinGen:CA4476417C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.8049C>G (p.Tyr2683Ter)2318FLNCUncertain significance-1RCV003340793; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128498448128498448-
NM_001458.5(FLNC):c.8051T>C (p.Val2684Ala)2318FLNCUncertain significance1585173265RCV000795898; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN23931071284984501284984507:g.128498450T>C-
NM_001458.5(FLNC):c.8051del (p.Val2684fs)2318FLNCPathogenic1809161384RCV001999940; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128498450128498450128498449-
NM_001458.5(FLNC):c.8059A>G (p.Met2687Val)2318FLNCUncertain significance369110441RCV001065064|RCV003145327; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN51720271284984581284984587:g.128498458A>G-
NM_001458.5(FLNC):c.8066A>T (p.Asn2689Ile)2318FLNCUncertain significance-1RCV002419359|RCV003103470; NMedGen:CN230736|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128498465128498465128498465-
NM_001458.5(FLNC):c.8069G>A (p.Arg2690Gln)2318FLNCUncertain significance1585173273RCV000801929|RCV002495078; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:60952471284984681284984687:g.128498468G>A-
NM_001458.5(FLNC):c.8070G>T (p.Arg2690=)2318FLNCConflicting interpretations of pathogenicity373087529RCV000289047|RCV000696363|RCV002418136; NMedGen:CN517202|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN23073671284984691284984697:g.128498469G>TClinGen:CA4476420C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.8073G>A (p.Val2691=)2318FLNCLikely benign577664185RCV001505479; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128498472128498472128498472-
NM_001458.5(FLNC):c.8076C>A (p.Tyr2692Ter)2318FLNCPathogenic/Likely pathogenic1563006133RCV000711696|RCV001861966; NMedGen:CN517202|MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128498475128498475NC_000007.13:g.128498475C>A-
NM_001458.5(FLNC):c.8079T>C (p.Asn2693=)2318FLNCLikely benign376051052RCV000890171|RCV002416099; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284984781284984787:g.128498478T>C-
NM_001458.5(FLNC):c.8080G>A (p.Val2694Ile)2318FLNCConflicting interpretations of pathogenicity765388755RCV000929233|RCV002416164|RCV003145236; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN230736|MedGen:CN51720271284984791284984797:g.128498479G>A-
NM_001458.5(FLNC):c.8087A>G (p.Tyr2696Cys)2318FLNCUncertain significance2128940675RCV001925829; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128498486128498486128498486-
NM_001458.5(FLNC):c.8089A>G (p.Thr2697Ala)2318FLNCUncertain significance1292665355RCV000795077|RCV002298774; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:CN51720271284984881284984887:g.128498488A>G-
NM_001458.5(FLNC):c.8091T>C (p.Thr2697=)2318FLNCLikely benign369131204RCV000842755|RCV001503616|RCV002415968; NMedGen:C3661900|MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284984901284984907:g.128498490T>C-
NM_001458.5(FLNC):c.8098G>A (p.Glu2700Lys)2318FLNCUncertain significance2128940691RCV002044455; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN2393107128498497128498497128498497-
NM_001458.5(FLNC):c.8103A>T (p.Lys2701Asn)2318FLNCUncertain significance-1RCV002294972; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128498502128498502128498502-
NM_001458.5(FLNC):c.8107del (p.Asp2703fs)2318FLNCPathogenic/Likely pathogenic1563006160RCV000685726|RCV003226966|RCV003237321; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:C3661900|MedGen:C583068871284985031284985037:g.128498503_128498503delOMIM:102565.0018C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.8106G>A (p.Gly2702=)2318FLNCLikely benign1408621523RCV002143895|RCV002416501; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN2307367128498505128498505128498505-
NM_001458.5(FLNC):c.8109C>G (p.Asp2703Glu)2318FLNCUncertain significance1809164297RCV001222191; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284985081284985087:g.128498508C>G-
NM_001458.5(FLNC):c.8110_8111insC (p.Tyr2704fs)2318FLNCPathogenic-1RCV002886265; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128498509128498510NC_000007.13:g.128498509_128498510insC-
NM_001458.5(FLNC):c.8112C>T (p.Tyr2704=)2318FLNCLikely benign2128940695RCV002149903; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128498511128498511128498511-
NM_001458.5(FLNC):c.8112C>A (p.Tyr2704Ter)2318FLNCUncertain significance-1RCV002937539; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128498511128498511NC_000007.13:g.128498511C>A-
NM_001458.5(FLNC):c.8113A>C (p.Ile2705Leu)2318FLNCUncertain significance1809164468RCV001069389; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284985121284985127:g.128498512A>C-
NM_001458.5(FLNC):c.8114T>C (p.Ile2705Thr)2318FLNCUncertain significance553714847RCV001061044; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:17144571284985131284985137:g.128498513T>C-
NM_001458.5(FLNC):c.8117T>C (p.Leu2706Pro)2318FLNCUncertain significance2128940703RCV002018000; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128498516128498516128498516-
NM_001458.5(FLNC):c.8118C>T (p.Leu2706=)2318FLNCBenign28379666RCV000117085|RCV000537483|RCV001795167|RCV002415599; NMedGen:CN169374|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:C3661900|MedGen:CN23073671284985171284985177:g.128498517C>TClinGen:CA152887C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.8118_8121delinsTATC (p.Leu2706_Ile2707=)2318FLNCBenign/Likely benign2128940705RCV002208460|RCV002502029|RCV003230740; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:6140657128498517128498520128498517-
NM_001458.5(FLNC):c.8121T>C (p.Ile2707=)2318FLNCBenign28437296RCV000117086|RCV000550108|RCV001795168|RCV002415600; NMedGen:CN169374|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310|MedGen:C3661900|MedGen:CN23073671284985201284985207:g.128498520T>CClinGen:CA152890C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.8121T>G (p.Ile2707Met)2318FLNCUncertain significance28437296RCV001066522; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:6327371284985201284985207:g.128498520T>G-
NM_001458.5(FLNC):c.8121_8122inv (p.Val2708Ile)2318FLNCUncertain significance-1RCV001963715; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN2393107128498520128498521128498520-
NM_001458.5(FLNC):c.8130G>A (p.Trp2710Ter)2318FLNCPathogenic121909518RCV000019978|RCV001052798|RCV001091493; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:6170471284985291284985297:g.128498529G>AClinGen:CA258151,OMIM:102565.0001C1836050 609524 Myofibrillar myopathy, filamin C-related;
NM_001458.5(FLNC):c.8131G>T (p.Gly2711Cys)2318FLNCUncertain significance1809165876RCV001303374; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN2393107128498530128498530128498530-
NM_001458.5(FLNC):c.8131G>A (p.Gly2711Ser)2318FLNCUncertain significance1809165876RCV001916327; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128498530128498530128498530-
NM_001458.5(FLNC):c.8136C>T (p.Asp2712=)2318FLNCLikely benign748104907RCV001434031|RCV001544639|RCV001796494|RCV002420980; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310|MedGen:C3661900|MedGen:CN169374|MedGen:CN2307367128498535128498535128498535-
NM_001458.5(FLNC):c.8140dup (p.Ser2714fs)2318FLNCUncertain significance1554402084RCV000649176; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128498536128498537NC_000007.13:g.128498539dupClinGen:CA658797010C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.8137G>A (p.Glu2713Lys)2318FLNCUncertain significance758271134RCV002045092; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128498536128498536128498536-
NM_001458.5(FLNC):c.8143G>T (p.Val2715Phe)2318FLNCUncertain significance370832402RCV001371937; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:752497128498542128498542128498542-
NM_001458.5(FLNC):c.8145C>T (p.Val2715=)2318FLNCLikely benign746842532RCV000877916|RCV001552813|RCV002416087|RCV003150369; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202|MedGen:CN230736|Human Phenotype71284985441284985447:g.128498544C>T-
NM_001458.5(FLNC):c.8156C>T (p.Pro2719Leu)2318FLNCUncertain significance1585173375RCV000793678; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MedGen:CN23931071284985551284985557:g.128498555C>T-
NM_001458.5(FLNC):c.8163A>T (p.Lys2721Asn)2318FLNCUncertain significance2128940727RCV001969667; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128498562128498562128498562-
NM_001458.5(FLNC):c.8168A>T (p.Lys2723Met)2318FLNCUncertain significance-1RCV003040925; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128498567128498567NC_000007.13:g.128498567A>T-
NM_001458.5(FLNC):c.8170G>T (p.Val2724Phe)2318FLNCUncertain significance1220183666RCV001918080; NMONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128498569128498569128498569-
NM_001458.5(FLNC):c.8171T>C (p.Val2724Ala)2318FLNCUncertain significance770027151RCV001337650; NMedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128498570128498570128498570-
NM_001458.5(FLNC):c.8174C>G (p.Pro2725Arg)2318FLNCUncertain significance2128940731RCV001970454; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128498573128498573128498573-
NM_001458.5(FLNC):c.8174C>T (p.Pro2725Leu)2318FLNCUncertain significance2128940731RCV001903763; NMedGen:CN239310; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128498573128498573128498573-
NM_001458.5(FLNC):c.8175T>G (p.Pro2725=)2318FLNCLikely benign374175186RCV000919873|RCV001492645|RCV002427282; NMedGen:CN517202|MedGen:CN239310; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN23073671284985741284985747:g.128498574T>G-
NM_001458.5(FLNC):c.8175T>C (p.Pro2725=)2318FLNCLikely benign374175186RCV002207992; NMONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249; MedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:1714457128498574128498574128498574-
NM_001458.5(FLNC):c.8178A>G (p.Ter2726Trp)2318FLNCUncertain significance1563006225RCV000695617; NMedGen:CN239310; MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:7524971284985771284985777:g.128498577A>G-C4310749 617047 Cardiomyopathy, familial hypertrophic, 26;
NM_001458.5(FLNC):c.7990G>C (p.Gly2664Arg)-1FLNC-AS1;FLNCUncertain significance-1RCV003330144; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632737128498271128498271-
NM_024919.6(FRMD1):c.508G>T (p.Val170Leu)79981FRMD1Uncertain significance199740559RCV000714594; NMONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:632736168465691168465691NC_000006.11:g.168465691C>A-
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