Disease Browser
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Parent Node: Distal Myopathies (D049310) | ..Starting node ..MYOPATHY, DISTAL, 4 (OMIM:614065)
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Sister Nodes: | ..Distal myopathy, Nonaka type (C536816)
| ..Jankovic Rivera syndrome (C537563)
| ..Miyoshi Muscular Dystrophy 2 (C567646)
| ..Miyoshi Muscular Dystrophy 3 (C567645)
| ..Miyoshi myopathy (C537480)
| ..Myopathy, Distal 2 (C565262)
| ..Myopathy, Distal 3 (C566445)
| ..MYOPATHY, DISTAL, 4 (OMIM:614065)
| ..MYOPATHY, DISTAL, 5 (OMIM:617030)
| ..MYOPATHY, DISTAL, TATEYAMA TYPE (OMIM:614321)
| ..Myopathy, Distal, with Anterior Tibial Onset (C564664)
| ..Myopathy, Distal, With Early Respiratory Failure, Autosomal Dominant (C564377)
| ..Myopathy, Distal, with Onset in Infancy (C563543)
| ..Welander distal myopathy, Swedish type (C536690)
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Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD
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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 : Genes: COL11A2; COL2A1; FLNC; | Phenotypes | | Disease Causing ClinVar Variants | Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | NM_183357.3(ADCY5):c.1368G>A (p.Met456Ile) | 111 | ADCY5 | Uncertain significance | 1286137967 | RCV000714607; | N | MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273 | 3 | 123066667 | 123066667 | | | NC_000003.11:g.123066667C>T | - | | | NC_000007.13:g.(?_128470692)_(128694824_?)dup | -1 | ATP6V1F;FLNC;IRF5;KCP;TNPO3 | Uncertain significance | -1 | RCV001879723|RCV001902472; | N | MONDO: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; | 7 | 128470692 | 128694824 | | | -1 | - | | | NC_000007.13:g.(?_128469483)_(128500328_?)del | 2318 | FLNC | Pathogenic | -1 | RCV001384408; | N | 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 | 7 | 128469483 | 128500328 | | | -1 | - | | | NC_000007.14:g.(?_128830618)_(128858543_?)del | 2318 | FLNC | Pathogenic | -1 | RCV000708544; | N | 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 | 7 | 128470672 | 128498597 | | | | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NC_000007.13:g.(?_128470672)_(128498597_?)dup | 2318 | FLNC | Uncertain significance | -1 | RCV001345438; | N | 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 | 7 | 128470672 | 128498597 | | | -1 | - | | | NC_000007.14:g.(?_128830628)_(128858533_?)dup | 2318 | FLNC | Uncertain significance | -1 | RCV001031213; | N | 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 | 7 | 128470682 | 128498587 | | | -1 | - | | | NC_000007.13:g.(?_128470682)_(128498587_?)del | 2318 | FLNC | Pathogenic | -1 | RCV001384407; | N | 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 | 7 | 128470682 | 128498587 | | | -1 | - | | | NC_000007.13:g.(?_128470692)_(128482448_?)dup | 2318 | FLNC | Uncertain significance | -1 | RCV003107410; | N | 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 | 7 | 128470692 | 128482448 | | | | - | | | NC_000007.13:g.(?_128470692)_(128498577_?)del | 2318 | FLNC | Pathogenic | -1 | RCV003107413; | N | 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 | 7 | 128470692 | 128498577 | | | | - | | | NM_001458.5(FLNC):c.4A>G (p.Met2Val) | 2318 | FLNC | Uncertain significance | -1 | RCV003027957; | N | 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 | 7 | 128470695 | 128470695 | | | NC_000007.13:g.128470695A>G | - | | | NM_001458.5(FLNC):c.13A>G (p.Ser5Gly) | 2318 | FLNC | Uncertain significance | 2128932075 | RCV001978534; | N | 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 | 7 | 128470704 | 128470704 | | | 128470704 | - | | | NM_001458.5(FLNC):c.15C>A (p.Ser5Arg) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 759632330 | RCV000649110|RCV002397288; | N | 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:CN230736 | 7 | 128470706 | 128470706 | | | 7:g.128470706C>A | ClinGen:CA4473948 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.16G>C (p.Gly6Arg) | 2318 | FLNC | Uncertain significance | 1284761356 | RCV000689615; | N | 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 | 7 | 128470707 | 128470707 | | | NC_000007.13:g.128470707G>C | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.16G>A (p.Gly6Ser) | 2318 | FLNC | Uncertain significance | 1284761356 | RCV001040543; | N | 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 | 7 | 128470707 | 128470707 | | | 7:g.128470707G>A | - | | | NM_001458.5(FLNC):c.19T>G (p.Tyr7Asp) | 2318 | FLNC | Uncertain significance | 896068048 | RCV001051688|RCV002416389; | N | 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|MedGen:CN230736 | 7 | 128470710 | 128470710 | | | 7:g.128470710T>G | - | | | NM_001458.5(FLNC):c.21C>T (p.Tyr7=) | 2318 | FLNC | Likely benign | 201179596 | RCV002202309; | N | 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 | 7 | 128470712 | 128470712 | | | 128470712 | - | | | NM_001458.5(FLNC):c.22T>C (p.Ser8Pro) | 2318 | FLNC | Benign/Likely benign | 544875797 | RCV000954827|RCV001683701|RCV002445110; | N | MONDO:MONDO: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:CN230736 | 7 | 128470713 | 128470713 | | | 7:g.128470713T>C | - | | | NM_001458.5(FLNC):c.31G>A (p.Gly11Ser) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 370512642 | RCV000649116|RCV001592807|RCV002325297; | N | 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:C3661900|MedGen:CN230736 | 7 | 128470722 | 128470722 | | | 7:g.128470722G>A | ClinGen:CA4473953 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.31G>T (p.Gly11Cys) | 2318 | FLNC | Uncertain significance | 370512642 | RCV001064420|RCV002320324; | N | 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 | 7 | 128470722 | 128470722 | | | 7:g.128470722G>T | - | | | NM_001458.5(FLNC):c.33C>A (p.Gly11=) | 2318 | FLNC | Likely benign | -1 | RCV003032475; | N | 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 | 7 | 128470724 | 128470724 | | | | - | | | NM_001458.5(FLNC):c.37G>A (p.Gly13Ser) | 2318 | FLNC | Uncertain significance | 760318519 | RCV000707188; | N | 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 | 7 | 128470728 | 128470728 | | | NC_000007.13:g.128470728G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.37G>C (p.Gly13Arg) | 2318 | FLNC | Uncertain significance | 760318519 | RCV001361948; | N | 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 | 7 | 128470728 | 128470728 | | | 128470728 | - | | | NM_001458.5(FLNC):c.43G>A (p.Gly15Ser) | 2318 | FLNC | Uncertain significance | 1263243888 | RCV001297449; | N | 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 | 7 | 128470734 | 128470734 | | | 128470734 | - | | | NM_001458.5(FLNC):c.44G>T (p.Gly15Val) | 2318 | FLNC | Uncertain significance | 766081127 | RCV001234929|RCV002327566|RCV003145451; | N | 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|MedGen:C3661900 | 7 | 128470735 | 128470735 | | | 7:g.128470735G>T | - | | | NM_001458.5(FLNC):c.45C>T (p.Gly15=) | 2318 | FLNC | Likely benign | 2128932096 | RCV001962414; | N | 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 | 7 | 128470736 | 128470736 | | | 128470736 | - | | | NM_001458.5(FLNC):c.46dup (p.Asp16fs) | 2318 | FLNC | Likely pathogenic | -1 | RCV003147860|RCV003147859|RCV003147861; | N | MONDO:MONDO: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 | 7 | 128470736 | 128470737 | | | | - | | | NM_001458.5(FLNC):c.46G>T (p.Asp16Tyr) | 2318 | FLNC | Uncertain significance | 1807849615 | RCV001045869; | N | 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 | 7 | 128470737 | 128470737 | | | 7:g.128470737G>T | - | | | NM_001458.5(FLNC):c.49G>A (p.Glu17Lys) | 2318 | FLNC | Uncertain significance | -1 | RCV003069540|RCV003455701; | N | 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:0012289,MedGen:C1836050,OMIM:609524 | 7 | 128470740 | 128470740 | | | NC_000007.13:g.128470740G>A | - | | | NM_001458.5(FLNC):c.51G>A (p.Glu17=) | 2318 | FLNC | Likely benign | 753490528 | RCV000921046|RCV002336913; | N | 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 | 7 | 128470742 | 128470742 | | | 7:g.128470742G>A | - | | | NM_001458.5(FLNC):c.57C>T (p.Asp19=) | 2318 | FLNC | Likely benign | 754468596 | RCV001478798; | N | 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 | 7 | 128470748 | 128470748 | | | 128470748 | - | | | NM_001458.5(FLNC):c.59A>C (p.Glu20Ala) | 2318 | FLNC | Uncertain significance | 1478918808 | RCV000532482; | N | 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 | 7 | 128470750 | 128470750 | | | NC_000007.13:g.128470750A>C | ClinGen:CA369215548 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.60G>A (p.Glu20=) | 2318 | FLNC | Likely benign | -1 | RCV002867018; | N | 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 | 7 | 128470751 | 128470751 | | | | - | | | NM_001458.5(FLNC):c.61A>G (p.Met21Val) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1174042673 | RCV001366571|RCV003365369; | N | 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 | 7 | 128470752 | 128470752 | | | 128470752 | - | | | NM_001458.5(FLNC):c.64C>T (p.Pro22Ser) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 368812043 | RCV000816369|RCV003344073; | N | 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:CN230736 | 7 | 128470755 | 128470755 | | | 7:g.128470755C>T | - | | | NM_001458.5(FLNC):c.65C>G (p.Pro22Arg) | 2318 | FLNC | Uncertain significance | -1 | RCV002700908; | N | 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 | 7 | 128470756 | 128470756 | | | NC_000007.13:g.128470756C>G | - | | | NM_001458.5(FLNC):c.65C>T (p.Pro22Leu) | 2318 | FLNC | Uncertain significance | -1 | RCV002701483; | N | 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 | 7 | 128470756 | 128470756 | | | NC_000007.13:g.128470756C>T | - | | | NM_001458.5(FLNC):c.66G>A (p.Pro22=) | 2318 | FLNC | Likely benign | 1585147676 | RCV001425219; | N | 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 | 7 | 128470757 | 128470757 | | | 7:g.128470757G>A | - | | | NM_001458.5(FLNC):c.71C>A (p.Thr24Lys) | 2318 | FLNC | Uncertain significance | 1251048006 | RCV001234460; | N | 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 | 7 | 128470762 | 128470762 | | | 7:g.128470762C>A | - | | | NM_001458.5(FLNC):c.72G>A (p.Thr24=) | 2318 | FLNC | Uncertain significance | -1 | RCV002608552; | N | 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 | 7 | 128470763 | 128470763 | | | | - | | | NM_001458.5(FLNC):c.76A>G (p.Lys26Glu) | 2318 | FLNC | Uncertain significance | 1562988843 | RCV000689852|RCV003163138; | N | 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:CN230736 | 7 | 128470767 | 128470767 | | | NC_000007.13:g.128470767A>G | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.77A>C (p.Lys26Thr) | 2318 | FLNC | Uncertain significance | 2128932111 | RCV001944866; | N | 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 | 7 | 128470768 | 128470768 | | | 128470768 | - | | | NM_001458.5(FLNC):c.81C>A (p.Asp27Glu) | 2318 | FLNC | Uncertain significance | 1318316375 | RCV001062805|RCV002429700|RCV002482067; | N | 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|MONDO:MONDO:0012289,MedGen:C183 | 7 | 128470772 | 128470772 | | | 7:g.128470772C>A | - | | | NM_001458.5(FLNC):c.84G>A (p.Leu28=) | 2318 | FLNC | Likely benign | 372154508 | RCV002095058|RCV002409488; | N | 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:CN230736 | 7 | 128470775 | 128470775 | | | 128470775 | - | | | NM_001458.5(FLNC):c.86C>T (p.Ala29Val) | 2318 | FLNC | Uncertain significance | 2128932114 | RCV002043012; | N | 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 | 7 | 128470777 | 128470777 | | | 128470777 | - | | | NM_001458.5(FLNC):c.88G>A (p.Glu30Lys) | 2318 | FLNC | Uncertain significance | 2128932116 | RCV002006718; | N | 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 | 7 | 128470779 | 128470779 | | | 128470779 | - | | | NM_001458.5(FLNC):c.92A>T (p.Asp31Val) | 2318 | FLNC | Uncertain significance | -1 | RCV003055230; | N | 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 | 7 | 128470783 | 128470783 | | | NC_000007.13:g.128470783A>T | - | | | NM_001458.5(FLNC):c.95C>T (p.Ala32Val) | 2318 | FLNC | Uncertain significance | 2128932120 | RCV001372840; | N | 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 | 7 | 128470786 | 128470786 | | | 128470786 | - | | | NM_001458.5(FLNC):c.96G>A (p.Ala32=) | 2318 | FLNC | Likely benign | 368239688 | RCV000551745|RCV001702515|RCV001701078|RCV002377143; | N | 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:C3661900|MedGen:CN169374|MedGen:CN230736 | 7 | 128470787 | 128470787 | | | NC_000007.13:g.128470787G>A | ClinGen:CA4473960 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.100T>G (p.Trp34Gly) | 2318 | FLNC | Uncertain significance | -1 | RCV002295128; | N | 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 | 7 | 128470791 | 128470791 | | | 128470791 | - | | | NM_001458.5(FLNC):c.102G>A (p.Trp34Ter) | 2318 | FLNC | Pathogenic | 2128932126 | RCV001932047; | N | 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 | 7 | 128470793 | 128470793 | | | 128470793 | - | | | NM_001458.5(FLNC):c.108G>A (p.Lys36=) | 2318 | FLNC | Likely benign | 1807852313 | RCV001414934; | N | 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 | 7 | 128470799 | 128470799 | | | 128470799 | - | | | NM_001458.5(FLNC):c.109A>G (p.Ile37Val) | 2318 | FLNC | Uncertain significance | -1 | RCV002806729; | N | 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 | 7 | 128470800 | 128470800 | | | NC_000007.13:g.128470800A>G | - | | | NM_001458.5(FLNC):c.110T>G (p.Ile37Ser) | 2318 | FLNC | Uncertain significance | -1 | RCV002296306; | N | MONDO:MONDO: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 | 7 | 128470801 | 128470801 | | | 128470801 | - | | | NM_001458.5(FLNC):c.125T>C (p.Phe42Ser) | 2318 | FLNC | Uncertain significance | 777706683 | RCV000649158; | N | 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 | 7 | 128470816 | 128470816 | | | NC_000007.13:g.128470816T>C | ClinGen:CA4473961 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.125T>G (p.Phe42Cys) | 2318 | FLNC | Uncertain significance | 777706683 | RCV000795545|RCV002307617|RCV002424820; | N | 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:CN517202|MedGen:CN230736 | 7 | 128470816 | 128470816 | | | 7:g.128470816T>G | - | | | NM_001458.5(FLNC):c.126C>T (p.Phe42=) | 2318 | FLNC | Likely benign | 746857110 | RCV001465868; | N | 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 | 7 | 128470817 | 128470817 | | | 128470817 | - | | | NM_001458.5(FLNC):c.127A>C (p.Thr43Pro) | 2318 | FLNC | Uncertain significance | 1807852947 | RCV001071017; | N | 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 | 7 | 128470818 | 128470818 | | | 7:g.128470818A>C | - | | | NM_001458.5(FLNC):c.130C>T (p.Arg44Cys) | 2318 | FLNC | Uncertain significance | 2128932137 | RCV001360757; | N | 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 | 7 | 128470821 | 128470821 | | | 128470821 | - | | | NM_001458.5(FLNC):c.131G>T (p.Arg44Leu) | 2318 | FLNC | Uncertain significance | 1807853136 | RCV001042952; | N | 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 | 7 | 128470822 | 128470822 | | | 7:g.128470822G>T | - | | | NM_001458.5(FLNC):c.131G>C (p.Arg44Pro) | 2318 | FLNC | Uncertain significance | -1 | RCV002791687; | N | 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 | 7 | 128470822 | 128470822 | | | NC_000007.13:g.128470822G>C | - | | | NM_001458.5(FLNC):c.133T>A (p.Trp45Arg) | 2318 | FLNC | Uncertain significance | -1 | RCV002851715; | N | 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 | 7 | 128470824 | 128470824 | | | NC_000007.13:g.128470824T>A | - | | | NM_001458.5(FLNC):c.140A>G (p.Asn47Ser) | 2318 | FLNC | Uncertain significance | 770861991 | RCV000798884|RCV001731932|RCV002388463; | N | 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:C3661900|MedGen:CN230736 | 7 | 128470831 | 128470831 | | | 7:g.128470831A>G | - | | | NM_001458.5(FLNC):c.141T>C (p.Asn47=) | 2318 | FLNC | Likely benign | 1331955110 | RCV000549487|RCV002395435; | N | 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:CN230736 | 7 | 128470832 | 128470832 | | | NC_000007.13:g.128470832T>C | ClinGen:CA457845982 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.142_162dup (p.Glu48_Gly54dup) | 2318 | FLNC | Uncertain significance | 1807853629 | RCV001040076; | N | 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 | 7 | 128470832 | 128470833 | | | 7:g.128470832_128470833insGAGCACCTCAAGTGCGTGGGC | - | | | NM_001458.5(FLNC):c.146_147insT (p.Leu50fs) | 2318 | FLNC | Pathogenic | 2128932142 | RCV001388073; | N | 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 | 7 | 128470837 | 128470838 | | | 128470837 | - | | | NM_001458.5(FLNC):c.147C>T (p.His49=) | 2318 | FLNC | Benign | 3734972 | RCV000117066|RCV000711677|RCV001520067|RCV002390262; | N | MedGen: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:CN230736 | 7 | 128470838 | 128470838 | | | 7:g.128470838C>T | ClinGen:CA152835 | CN169374 not specified; | | NM_001458.5(FLNC):c.147delinsTCT (p.Lys51fs) | 2318 | FLNC | Pathogenic | 1562988883 | RCV000687166; | N | 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 | 7 | 128470838 | 128470838 | | | 7:g.128470838_128470839insCT | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.148C>G (p.Leu50Val) | 2318 | FLNC | Uncertain significance | -1 | RCV003052274; | N | 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 | 7 | 128470839 | 128470839 | | | NC_000007.13:g.128470839C>G | - | | | NM_001458.5(FLNC):c.152A>G (p.Lys51Arg) | 2318 | FLNC | Uncertain significance | 1807854319 | RCV001369533|RCV002404879; | N | 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 | 7 | 128470843 | 128470843 | | | 128470843 | - | | | NM_001458.5(FLNC):c.156dup (p.Val53fs) | 2318 | FLNC | Pathogenic | 2128932148 | RCV001386399; | N | 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 | 7 | 128470846 | 128470847 | | | 128470846 | - | | | NM_001458.5(FLNC):c.161G>T (p.Gly54Val) | 2318 | FLNC | Uncertain significance | 1032152678 | RCV001217746; | N | 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 | 7 | 128470852 | 128470852 | | | 7:g.128470852G>T | - | | | NM_001458.5(FLNC):c.161G>A (p.Gly54Asp) | 2318 | FLNC | Uncertain significance | 1032152678 | RCV001240614|RCV002393619; | N | 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:CN230736 | 7 | 128470852 | 128470852 | | | 7:g.128470852G>A | - | | | NM_001458.5(FLNC):c.163A>C (p.Lys55Gln) | 2318 | FLNC | Uncertain significance | 769870285 | RCV001924369; | N | 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 | 7 | 128470854 | 128470854 | | | 128470854 | - | | | NM_001458.5(FLNC):c.170T>C (p.Leu57Pro) | 2318 | FLNC | Uncertain significance | 1585147774 | RCV000795176; | N | 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 | 7 | 128470861 | 128470861 | | | 7:g.128470861T>C | - | | | NM_001458.5(FLNC):c.174C>G (p.Thr58=) | 2318 | FLNC | Likely benign | 763488290 | RCV000547385|RCV000614866|RCV002404522|RCV003326460; | N | 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:CN169374|MedGen:CN230736|MedGen:C3661900 | 7 | 128470865 | 128470865 | | | 7:g.128470865C>G | ClinGen:CA4473967 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.174C>A (p.Thr58=) | 2318 | FLNC | Likely benign | 763488290 | RCV000936008|RCV003323763; | N | 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|MedGen:CN169374 | 7 | 128470865 | 128470865 | | | 7:g.128470865C>A | - | | | NM_001458.5(FLNC):c.176A>G (p.Asp59Gly) | 2318 | FLNC | Uncertain significance | 1164296903 | RCV000691568|RCV001566083; | N | 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:CN517202 | 7 | 128470867 | 128470867 | | | 7:g.128470867A>G | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.179T>A (p.Leu60Gln) | 2318 | FLNC | Uncertain significance | 1807855891 | RCV001225178; | N | 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 | 7 | 128470870 | 128470870 | | | 7:g.128470870T>A | - | | | NM_001458.5(FLNC):c.179T>G (p.Leu60Arg) | 2318 | FLNC | Uncertain significance | -1 | RCV002302905; | N | MONDO:MONDO: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 | 7 | 128470870 | 128470870 | | | 128470870 | - | | | NM_001458.5(FLNC):c.181C>T (p.Gln61Ter) | 2318 | FLNC | Pathogenic | 2128932161 | RCV001385393; | N | 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 | 7 | 128470872 | 128470872 | | | 128470872 | - | | | NM_001458.5(FLNC):c.185G>A (p.Arg62His) | 2318 | FLNC | Uncertain significance | 1308771065 | RCV001057245|RCV002409466; | N | 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 | 7 | 128470876 | 128470876 | | | 7:g.128470876G>A | - | | | NM_001458.5(FLNC):c.192C>G (p.Leu64=) | 2318 | FLNC | Likely benign | 1172570582 | RCV002085989; | N | 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 | 7 | 128470883 | 128470883 | | | 128470883 | - | | | NM_001458.5(FLNC):c.196G>T (p.Asp66Tyr) | 2318 | FLNC | Uncertain significance | 1373245749 | RCV001758758|RCV002421265|RCV002539142; | N | MedGen: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:75249 | 7 | 128470887 | 128470887 | | | 128470887 | - | | | NM_001458.5(FLNC):c.197A>G (p.Asp66Gly) | 2318 | FLNC | Uncertain significance | -1 | RCV002819834; | N | 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 | 7 | 128470888 | 128470888 | | | NC_000007.13:g.128470888A>G | - | | | NM_001458.5(FLNC):c.198C>T (p.Asp66=) | 2318 | FLNC | Likely benign | 764772679 | RCV001398392; | N | 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 | 7 | 128470889 | 128470889 | | | 128470889 | - | | | NM_001458.5(FLNC):c.200G>T (p.Gly67Val) | 2318 | FLNC | Uncertain significance | 1807857687 | RCV001305955|RCV003294240; | N | 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:CN230736 | 7 | 128470891 | 128470891 | | | 128470891 | - | | | NM_001458.5(FLNC):c.204C>G (p.Leu68=) | 2318 | FLNC | Likely benign | 752213633 | RCV001405497|RCV002420904; | N | 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 | 7 | 128470895 | 128470895 | | | 128470895 | - | | | NM_001458.5(FLNC):c.205C>T (p.Arg69Trp) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 758342140 | RCV000690285|RCV002422491; | N | 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:CN230736 | 7 | 128470896 | 128470896 | | | 7:g.128470896C>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.210C>G (p.Leu70=) | 2318 | FLNC | Likely benign | 777794633 | RCV002185549; | N | 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 | 7 | 128470901 | 128470901 | | | 128470901 | - | | | NM_001458.5(FLNC):c.210C>T (p.Leu70=) | 2318 | FLNC | Likely benign | -1 | RCV002632981; | N | 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 | 7 | 128470901 | 128470901 | | | | - | | | NM_001458.5(FLNC):c.211A>G (p.Ile71Val) | 2318 | FLNC | Uncertain significance | 1250893880 | RCV001555594|RCV001859377; | N | MedGen: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 | 7 | 128470902 | 128470902 | | | 128470902 | - | | | NM_001458.5(FLNC):c.212T>C (p.Ile71Thr) | 2318 | FLNC | Uncertain significance | 1554396387 | RCV000532536|RCV002420500; | N | 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:CN230736 | 7 | 128470903 | 128470903 | | | 7:g.128470903T>C | ClinGen:CA369216340 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.213C>T (p.Ile71=) | 2318 | FLNC | Likely benign | 2128932186 | RCV001407604; | N | 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 | 7 | 128470904 | 128470904 | | | 128470904 | - | | | NM_001458.5(FLNC):c.214G>A (p.Ala72Thr) | 2318 | FLNC | Uncertain significance | 751548628 | RCV001864799; | N | 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 | 7 | 128470905 | 128470905 | | | 128470905 | - | | | NM_001458.5(FLNC):c.215C>T (p.Ala72Val) | 2318 | FLNC | Uncertain significance | 893814984 | RCV001937727; | N | 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 | 7 | 128470906 | 128470906 | | | 128470906 | - | | | NM_001458.5(FLNC):c.216G>A (p.Ala72=) | 2318 | FLNC | Likely benign | 757077955 | RCV000934578; | N | 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 | 7 | 128470907 | 128470907 | | | 7:g.128470907G>A | - | | | NM_001458.5(FLNC):c.222C>G (p.Leu74=) | 2318 | FLNC | Likely benign | 965256172 | RCV001465826|RCV003298810; | N | 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 | 7 | 128470913 | 128470913 | | | 128470913 | - | | | NM_001458.5(FLNC):c.227T>G (p.Val76Gly) | 2318 | FLNC | Uncertain significance | 1011301530 | RCV001567243|RCV001866005; | N | MedGen: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 | 7 | 128470918 | 128470918 | | | 128470918 | - | | | NM_001458.5(FLNC):c.231_232insGTATGC (p.Leu77_Ser78insValCys) | 2318 | FLNC | Uncertain significance | 2128932197 | RCV002000537; | N | 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 | 7 | 128470921 | 128470922 | | | 128470921 | - | | | NM_001458.5(FLNC):c.231C>T (p.Leu77=) | 2318 | FLNC | Likely benign | -1 | RCV002770339; | N | 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 | 7 | 128470922 | 128470922 | | | | - | | | NM_001458.5(FLNC):c.232A>C (p.Ser78Arg) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 746082496 | RCV001042008|RCV002445234; | N | 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|MedGen:CN230736 | 7 | 128470923 | 128470923 | | | 7:g.128470923A>C | - | | | NM_001458.5(FLNC):c.232A>G (p.Ser78Gly) | 2318 | FLNC | Uncertain significance | 746082496 | RCV001754782|RCV001868432; | N | MedGen: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 | 7 | 128470923 | 128470923 | | | 128470923 | - | | | NM_001458.5(FLNC):c.234_235insTCGTATGCAGCTCGTATG (p.Ser78_Gln79insSerTyrAlaAlaArgMet) | 2318 | FLNC | Uncertain significance | 2128932203 | RCV002013080; | N | 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 | 7 | 128470925 | 128470926 | | | 128470925 | - | | | NM_001458.5(FLNC):c.241C>T (p.Arg81Cys) | 2318 | FLNC | Uncertain significance | 1374458008 | RCV001220543; | N | 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 | 7 | 128470932 | 128470932 | | | 7:g.128470932C>T | - | | | NM_001458.5(FLNC):c.244A>C (p.Met82Leu) | 2318 | FLNC | Uncertain significance | 2128932209 | RCV001919383|RCV003150471; | N | 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:614065, Orphanet:63273|Human Phenotype Ontology:HP:0001638,MONDO:MONDO | 7 | 128470935 | 128470935 | | | 128470935 | - | | | NM_001458.5(FLNC):c.245T>G (p.Met82Arg) | 2318 | FLNC | Uncertain significance | 1807859917 | RCV001231250; | N | 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 | 7 | 128470936 | 128470936 | | | 7:g.128470936T>G | - | | | NM_001458.5(FLNC):c.245T>A (p.Met82Lys) | 2318 | FLNC | Uncertain significance | 1807859917 | RCV001891179|RCV003166972; | N | 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 | 7 | 128470936 | 128470936 | | | 128470936 | - | | | NM_001458.5(FLNC):c.246G>A (p.Met82Ile) | 2318 | FLNC | Uncertain significance | 1554396403 | RCV000649129; | N | 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 | 7 | 128470937 | 128470937 | | | 7:g.128470937G>A | ClinGen:CA369216592 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.258C>T (p.Phe86=) | 2318 | FLNC | Likely benign | -1 | RCV002426130|RCV003101999; | N | MedGen: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:CN239310 | 7 | 128470949 | 128470949 | | | | - | | | NM_001458.5(FLNC):c.261del (p.Pro88fs) | 2318 | FLNC | Pathogenic | 2128932217 | RCV001384521; | N | 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 | 7 | 128470952 | 128470952 | | | 128470951 | - | | | NM_001458.5(FLNC):c.261T>C (p.His87=) | 2318 | FLNC | Likely benign | -1 | RCV002426394|RCV003102035; | N | MedGen: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:CN239310 | 7 | 128470952 | 128470952 | | | | - | | | NM_001458.5(FLNC):c.263C>A (p.Pro88Gln) | 2318 | FLNC | Uncertain significance | 1807860720 | RCV001041614; | N | 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 | 7 | 128470954 | 128470954 | | | 7:g.128470954C>A | - | | | NM_001458.5(FLNC):c.266G>A (p.Arg89His) | 2318 | FLNC | Uncertain significance | 1554396410 | RCV000557513; | N | 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 | 7 | 128470957 | 128470957 | | | 7:g.128470957G>A | ClinGen:CA369216712 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.267C>T (p.Arg89=) | 2318 | FLNC | Likely benign | 768740257 | RCV001461748; | N | 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 | 7 | 128470958 | 128470958 | | | 7:g.128470958C>T | - | | | NM_001458.5(FLNC):c.268C>T (p.Pro90Ser) | 2318 | FLNC | Likely benign | 1292076381 | RCV001976676; | N | 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 | 7 | 128470959 | 128470959 | | | 128470959 | - | | | NM_001458.5(FLNC):c.269C>G (p.Pro90Arg) | 2318 | FLNC | Uncertain significance | 1807861341 | RCV001235973; | N | 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 | 7 | 128470960 | 128470960 | | | 7:g.128470960C>G | - | | | NM_001458.5(FLNC):c.272A>C (p.Asn91Thr) | 2318 | FLNC | Uncertain significance | 886042565 | RCV000297343|RCV002518870; | N | MedGen: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 | 7 | 128470963 | 128470963 | | | 7:g.128470963A>C | ClinGen:CA10604406 | CN169374 not specified; | | NM_001458.5(FLNC):c.273C>A (p.Asn91Lys) | 2318 | FLNC | Uncertain significance | 1807861563 | RCV001224333|RCV003163750; | N | 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:CN230736 | 7 | 128470964 | 128470964 | | | 7:g.128470964C>A | - | | | NM_001458.5(FLNC):c.277C>T (p.Arg93Cys) | 2318 | FLNC | Uncertain significance | 762326127 | RCV002014216; | N | 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 | 7 | 128470968 | 128470968 | | | 128470968 | - | | | NM_001458.5(FLNC):c.282A>G (p.Gln94=) | 2318 | FLNC | Benign/Likely benign | 772401033 | RCV000692684|RCV002440459; | N | 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:CN230736 | 7 | 128470973 | 128470973 | | | 7:g.128470973A>G | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.288G>A (p.Lys96=) | 2318 | FLNC | Likely benign | 2128932227 | RCV002170087; | N | 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 | 7 | 128470979 | 128470979 | | | 128470979 | - | | | NM_001458.5(FLNC):c.289C>T (p.Leu97=) | 2318 | FLNC | Likely benign | -1 | RCV002285644|RCV003101641; | N | MedGen: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 | 7 | 128470980 | 128470980 | | | | - | | | NM_001458.5(FLNC):c.290T>C (p.Leu97Pro) | 2318 | FLNC | Uncertain significance | 1585147935 | RCV000794457; | N | 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 | 7 | 128470981 | 128470981 | | | 7:g.128470981T>C | - | | | NM_001458.5(FLNC):c.290T>G (p.Leu97Arg) | 2318 | FLNC | Uncertain significance | 1585147935 | RCV001349810; | N | 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 | 7 | 128470981 | 128470981 | | | 128470981 | - | | | NM_001458.5(FLNC):c.292G>A (p.Glu98Lys) | 2318 | FLNC | Uncertain significance | 1195481399 | RCV001927360|RCV002440986; | N | 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 | 7 | 128470983 | 128470983 | | | 128470983 | - | | | NM_001458.5(FLNC):c.292G>C (p.Glu98Gln) | 2318 | FLNC | Uncertain significance | 1195481399 | RCV001984764; | N | 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:614065, Orphanet:63273 | 7 | 128470983 | 128470983 | | | 128470983 | - | | | NM_001458.5(FLNC):c.294G>A (p.Glu98=) | 2318 | FLNC | Likely benign | 201839252 | RCV001084027|RCV000659088|RCV001700214|RCV002438466; | N | 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:C3661900|MedGen:CN169374|MedGen:CN230736 | 7 | 128470985 | 128470985 | | | 7:g.128470985G>A | ClinGen:CA4473990 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.301_302delinsAA (p.Ser101Asn) | 2318 | FLNC | Uncertain significance | 2128932233 | RCV002017202|RCV002441187|RCV003150476; | N | 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:CN230736|Human Phenotype Ontology:HP:000 | 7 | 128470992 | 128470993 | | | 128470992 | - | | | NM_001458.5(FLNC):c.301T>C (p.Ser101Pro) | 2318 | FLNC | Uncertain significance | -1 | RCV002435880|RCV003102979; | N | MedGen: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:CN239310 | 7 | 128470992 | 128470992 | | | 128470992 | - | | | NM_001458.5(FLNC):c.302C>T (p.Ser101Phe) | 2318 | FLNC | Uncertain significance | 1554396416 | RCV000649086; | N | 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 | 7 | 128470993 | 128470993 | | | 7:g.128470993C>T | ClinGen:CA369216950 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.306G>A (p.Val102=) | 2318 | FLNC | Likely benign | -1 | RCV002797187; | N | 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 | 7 | 128470997 | 128470997 | | | | - | | | NM_001458.5(FLNC):c.312C>T (p.Leu104=) | 2318 | FLNC | Likely benign | 762302204 | RCV002134708|RCV002325644; | N | 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 | 7 | 128471003 | 128471003 | | | 128471003 | - | | | NM_001458.5(FLNC):c.318C>G (p.Phe106Leu) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 886037829 | RCV001394421|RCV001555793|RCV002321943; | N | 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:CN230736 | 7 | 128471009 | 128471009 | | | 7:g.128471009C>G | ClinVar:427828,ClinGen:CA4473994 | C0007193 Primary dilated cardiomyopathy; | | NM_001458.5(FLNC):c.327C>G (p.Arg109=) | 2318 | FLNC | Likely benign | 750328194 | RCV002174392|RCV003161662; | N | 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 | 7 | 128471018 | 128471018 | | | 128471018 | - | | | NM_001458.5(FLNC):c.328G>A (p.Glu110Lys) | 2318 | FLNC | Uncertain significance | -1 | RCV002613573; | N | 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 | 7 | 128471019 | 128471019 | | | NC_000007.13:g.128471019G>A | - | | | NM_001458.5(FLNC):c.338del (p.Lys113fs) | 2318 | FLNC | Pathogenic | -1 | RCV002451894|RCV003099444; | N | MedGen: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:CN239310 | 7 | 128471028 | 128471028 | | | 128471027 | - | | | NM_001458.5(FLNC):c.341T>C (p.Leu114Pro) | 2318 | FLNC | Uncertain significance | 1807864684 | RCV001340028|RCV001814308; | N | 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:MONDO:0014883,MedGen:C4310749,OMIM:617047 | 7 | 128471032 | 128471032 | | | 128471032 | - | | | NM_001458.5(FLNC):c.342C>T (p.Leu114=) | 2318 | FLNC | Likely benign | 368032737 | RCV001432280; | N | 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 | 7 | 128471033 | 128471033 | | | 7:g.128471033C>T | - | | | NM_001458.5(FLNC):c.345G>A (p.Val115=) | 2318 | FLNC | Likely benign | -1 | RCV003072273; | N | 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 | 7 | 128471036 | 128471036 | | | | - | | | NM_001458.5(FLNC):c.352+3C>T | 2318 | FLNC | Uncertain significance | 750255204 | RCV001302095|RCV003325994; | N | MONDO:MONDO: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:617047 | 7 | 128471046 | 128471046 | | | 128471046 | - | | | NM_001458.5(FLNC):c.352+8C>G | 2318 | FLNC | Likely benign | 780084616 | RCV000437274|RCV000906490; | N | MedGen: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 | 7 | 128471051 | 128471051 | | | 7:g.128471051C>G | ClinGen:CA4474002 | CN169374 not specified; | | NM_001458.5(FLNC):c.352+8C>T | 2318 | FLNC | Likely benign | -1 | RCV002711221; | N | 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 | 7 | 128471051 | 128471051 | | | NC_000007.13:g.128471051C>T | - | | | NM_001458.5(FLNC):c.352+8C>A | 2318 | FLNC | Likely benign | -1 | RCV003043361; | N | 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 | 7 | 128471051 | 128471051 | | | NC_000007.13:g.128471051C>A | - | | | NM_001458.5(FLNC):c.352+9C>T | 2318 | FLNC | Likely benign | 749553028 | RCV000937379; | N | 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 | 7 | 128471052 | 128471052 | | | 7:g.128471052C>T | - | | | NM_001458.5(FLNC):c.352+10G>A | 2318 | FLNC | Benign/Likely benign | 79489893 | RCV000440137|RCV000554944|RCV003114565; | N | MedGen: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 | 7 | 128471053 | 128471053 | | | 7:g.128471053G>A | ClinGen:CA4474004 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.352+12G>A | 2318 | FLNC | Likely benign | -1 | RCV003072904; | N | 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 | 7 | 128471055 | 128471055 | | | NC_000007.13:g.128471055G>A | - | | | NM_001458.5(FLNC):c.352+13G>A | 2318 | FLNC | Likely benign | -1 | RCV002614982; | N | 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 | 7 | 128471056 | 128471056 | | | NC_000007.13:g.128471056G>A | - | | | NC_000007.13:g.(?_128475360)_(128478877_?)del | 2318 | FLNC | Pathogenic | -1 | RCV003107414; | N | 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 | 7 | 128475360 | 128478877 | | | | - | | | NM_001458.5(FLNC):c.353-13C>T | 2318 | FLNC | Likely benign | 982648846 | RCV002162090; | N | 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 | 7 | 128475367 | 128475367 | | | 128475367 | - | | | NM_001458.5(FLNC):c.353-11C>T | 2318 | FLNC | Likely benign | 372623958 | RCV002103931; | N | 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 | 7 | 128475369 | 128475369 | | | 128475369 | - | | | NM_001458.5(FLNC):c.353-11C>A | 2318 | FLNC | Likely benign | -1 | RCV002658870; | N | 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 | 7 | 128475369 | 128475369 | | | NC_000007.13:g.128475369C>A | - | | | NC_000007.14:g.(?_128835316)_(128858533_?)dup | 2318 | FLNC | Uncertain significance | -1 | RCV001032548; | N | 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 | 7 | 128475370 | 128498587 | | | -1 | - | | | NC_000007.13:g.(?_128475370)_(128478867_?)del | 2318 | FLNC | Likely pathogenic | -1 | RCV001379017; | N | 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 | 7 | 128475370 | 128478867 | | | -1 | - | | | NM_001458.5(FLNC):c.353-9C>T | 2318 | FLNC | Likely benign | 778957130 | RCV000649191; | N | 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 | 7 | 128475371 | 128475371 | | | 7:g.128475371C>T | ClinGen:CA4474023 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.353-6C>T | 2318 | FLNC | Likely benign | 748284739 | RCV001422030; | N | 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 | 7 | 128475374 | 128475374 | | | 128475374 | - | | | NM_001458.5(FLNC):c.353-4G>T | 2318 | FLNC | Likely benign | 758484139 | RCV002139979; | N | MONDO:MONDO: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 | 7 | 128475376 | 128475376 | | | 128475376 | - | | | NM_001458.5(FLNC):c.356G>T (p.Ser119Ile) | 2318 | FLNC | Uncertain significance | -1 | RCV003043362; | N | 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 | 7 | 128475383 | 128475383 | | | NC_000007.13:g.128475383G>T | - | | | NM_001458.5(FLNC):c.360G>A (p.Lys120=) | 2318 | FLNC | Likely benign | 867399299 | RCV002089007|RCV003426336; | N | 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:C3661900 | 7 | 128475387 | 128475387 | | | 128475387 | - | | | NM_001458.5(FLNC):c.363C>T (p.Ala121=) | 2318 | FLNC | Likely benign | 2128933604 | RCV001429309|RCV002456706; | N | 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 | 7 | 128475390 | 128475390 | | | 128475390 | - | | | NM_001458.5(FLNC):c.365T>C (p.Ile122Thr) | 2318 | FLNC | Uncertain significance | 2128933606 | RCV002012318|RCV002458874; | N | 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:CN230736 | 7 | 128475392 | 128475392 | | | 128475392 | - | | | NM_001458.5(FLNC):c.366C>T (p.Ile122=) | 2318 | FLNC | Likely benign | 369120591 | RCV000251103|RCV000886773|RCV001416159|RCV002450774; | N | MedGen: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:CN230736 | 7 | 128475393 | 128475393 | | | NC_000007.13:g.128475393C>T | ClinGen:CA4474027 | CN169374 not specified; | | NM_001458.5(FLNC):c.370G>T (p.Asp124Tyr) | 2318 | FLNC | Uncertain significance | 1808053038 | RCV001058373; | N | 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 | 7 | 128475397 | 128475397 | | | 7:g.128475397G>T | - | | | NM_001458.5(FLNC):c.384G>A (p.Lys128=) | 2318 | FLNC | Likely benign | 1402021655 | RCV001392642|RCV003284298; | N | 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:CN230736 | 7 | 128475411 | 128475411 | | | 128475411 | - | | | NM_001458.5(FLNC):c.385C>G (p.Leu129Val) | 2318 | FLNC | Uncertain significance | -1 | RCV003021642; | N | 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 | 7 | 128475412 | 128475412 | | | NC_000007.13:g.128475412C>G | - | | | NM_001458.5(FLNC):c.387G>A (p.Leu129=) | 2318 | FLNC | Likely benign | 1159200587 | RCV000649226; | N | 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 | 7 | 128475414 | 128475414 | | | 7:g.128475414G>A | ClinGen:CA457846113 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.389T>A (p.Ile130Asn) | 2318 | FLNC | Uncertain significance | -1 | RCV002305404; | N | 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 | 7 | 128475416 | 128475416 | | | 128475416 | - | | | NM_001458.5(FLNC):c.398T>C (p.Leu133Pro) | 2318 | FLNC | Uncertain significance | 1808053502 | RCV001039266|RCV001593200; | N | 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|MedGen:CN517202 | 7 | 128475425 | 128475425 | | | 7:g.128475425T>C | - | | | NM_001458.5(FLNC):c.399G>T (p.Leu133=) | 2318 | FLNC | Likely benign | 2128933616 | RCV002167756; | N | 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 | 7 | 128475426 | 128475426 | | | 128475426 | - | | | NM_001458.5(FLNC):c.400A>G (p.Ile134Val) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 150285287 | RCV001237753|RCV002375253; | N | 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:CN230736 | 7 | 128475427 | 128475427 | | | 7:g.128475427A>G | - | | | NM_001458.5(FLNC):c.402C>G (p.Ile134Met) | 2318 | FLNC | Uncertain significance | -1 | RCV003073015; | N | 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 | 7 | 128475429 | 128475429 | | | NC_000007.13:g.128475429C>G | - | | | NM_001458.5(FLNC):c.405G>T (p.Trp135Cys) | 2318 | FLNC | Uncertain significance | 2128933620 | RCV001873049; | N | 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 | 7 | 128475432 | 128475432 | | | 128475432 | - | | | NM_001458.5(FLNC):c.407C>T (p.Thr136Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 748919727 | RCV001297749|RCV002322191; | N | 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 | 7 | 128475434 | 128475434 | | | 128475434 | - | | | NM_001458.5(FLNC):c.408G>A (p.Thr136=) | 2318 | FLNC | Likely benign | 370110008 | RCV000532090|RCV002324029; | N | 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:CN230736 | 7 | 128475435 | 128475435 | | | 7:g.128475435G>A | ClinGen:CA4474031 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.408G>T (p.Thr136=) | 2318 | FLNC | Likely benign | 370110008 | RCV002199285; | N | 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 | 7 | 128475435 | 128475435 | | | 128475435 | - | | | NM_001458.5(FLNC):c.421T>C (p.Tyr141His) | 2318 | FLNC | Uncertain significance | -1 | RCV002815860; | N | 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 | 7 | 128475448 | 128475448 | | | NC_000007.13:g.128475448T>C | - | | | NM_001458.5(FLNC):c.423C>T (p.Tyr141=) | 2318 | FLNC | Likely benign | 761354079 | RCV000928052|RCV003279155; | N | 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:614065, Orphanet:63273|MedGen:CN230736 | 7 | 128475450 | 128475450 | | | 7:g.128475450C>T | - | | | NM_001458.5(FLNC):c.431C>T (p.Ser144Phe) | 2318 | FLNC | Uncertain significance | 1225645939 | RCV001982065; | N | 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 | 7 | 128475458 | 128475458 | | | 128475458 | - | | | NM_001458.5(FLNC):c.432C>T (p.Ser144=) | 2318 | FLNC | Likely benign | 1285077880 | RCV002111620; | N | 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 | 7 | 128475459 | 128475459 | | | 128475459 | - | | | NM_001458.5(FLNC):c.432C>G (p.Ser144=) | 2318 | FLNC | Likely benign | -1 | RCV002695268; | N | 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 | 7 | 128475459 | 128475459 | | | | - | | | NM_001458.5(FLNC):c.438C>T (p.Pro146=) | 2318 | FLNC | Likely benign | 2128933631 | RCV002092640; | N | 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 | 7 | 128475465 | 128475465 | | | 128475465 | - | | | NM_001458.5(FLNC):c.439A>G (p.Met147Val) | 2318 | FLNC | Uncertain significance | 539316555 | RCV001932303|RCV003164141; | N | 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 | 7 | 128475466 | 128475466 | | | 128475466 | - | | | NM_001458.5(FLNC):c.444G>A (p.Trp148Ter) | 2318 | FLNC | Pathogenic | 1554397197 | RCV000649174; | N | 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 | 7 | 128475471 | 128475471 | | | NC_000007.13:g.128475471G>A | ClinGen:CA369219143 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.446A>T (p.Glu149Val) | 2318 | FLNC | Uncertain significance | 1808055544 | RCV001232950; | N | 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 | 7 | 128475473 | 128475473 | | | 7:g.128475473A>T | - | | | NM_001458.5(FLNC):c.449A>G (p.Asp150Gly) | 2318 | FLNC | Uncertain significance | 760711912 | RCV000541184|RCV002291664|RCV002330944; | N | 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:CN517202|MedGen:CN230736 | 7 | 128475476 | 128475476 | | | 7:g.128475476A>G | ClinGen:CA4474036 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.451G>A (p.Glu151Lys) | 2318 | FLNC | Uncertain significance | 1354261792 | RCV002026213; | N | 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 | 7 | 128475478 | 128475478 | | | 128475478 | - | | | NM_001458.5(FLNC):c.462G>A (p.Glu154=) | 2318 | FLNC | Likely benign | 753730559 | RCV001485601|RCV002342095; | N | 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 | 7 | 128475489 | 128475489 | | | 128475489 | - | | | NM_001458.5(FLNC):c.468C>A (p.Ala156=) | 2318 | FLNC | Likely benign | 1177374780 | RCV001482566; | N | 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 | 7 | 128475495 | 128475495 | | | 128475495 | - | | | NM_001458.5(FLNC):c.469C>G (p.Arg157Gly) | 2318 | FLNC | Uncertain significance | 759739899 | RCV000424843|RCV001299637|RCV003224280; | N | 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:63273|MONDO:MONDO:0012289,MedGen:C183 | 7 | 128475496 | 128475496 | | | 7:g.128475496C>G | ClinGen:CA4474039 | CN169374 not specified; | | NM_001458.5(FLNC):c.469C>T (p.Arg157Cys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 759739899 | RCV000704368|RCV002334377; | N | 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:CN230736 | 7 | 128475496 | 128475496 | | | NC_000007.13:g.128475496C>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.470G>A (p.Arg157His) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 752919962 | RCV000817620|RCV002336694|RCV002470992|RCV002501127|RCV003145194; | N | 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|MONDO:MONDO:0014883,MedGen:C431 | 7 | 128475497 | 128475497 | | | 7:g.128475497G>A | - | | | NM_001458.5(FLNC):c.479C>T (p.Thr160Met) | 2318 | FLNC | Uncertain significance | 1357772572 | RCV000689336|RCV001333944|RCV003303122; | N | 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:0013550,MedGen:C3279722,OMIM:614065 | 7 | 128475506 | 128475506 | | | NC_000007.13:g.128475506C>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.480G>A (p.Thr160=) | 2318 | FLNC | Likely benign | 369534561 | RCV001483320|RCV002342090; | N | 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:CN230736 | 7 | 128475507 | 128475507 | | | 128475507 | - | | | NM_001458.5(FLNC):c.480G>T (p.Thr160=) | 2318 | FLNC | Likely benign | -1 | RCV003116012; | N | 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 | 7 | 128475507 | 128475507 | | | | - | | | NM_001458.5(FLNC):c.483C>T (p.Pro161=) | 2318 | FLNC | Likely benign | 777932071 | RCV002116792|RCV002331726; | N | 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 | 7 | 128475510 | 128475510 | | | 128475510 | - | | | NM_001458.5(FLNC):c.486dup (p.Gln163fs) | 2318 | FLNC | Pathogenic | 2128933653 | RCV001999988; | N | 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 | 7 | 128475512 | 128475513 | | | 128475512 | - | | | NM_001458.5(FLNC):c.489G>A (p.Gln163=) | 2318 | FLNC | Likely benign | 1382736500 | RCV001435622; | N | 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 | 7 | 128475516 | 128475516 | | | 128475516 | - | | | NM_001458.5(FLNC):c.490C>T (p.Arg164Trp) | 2318 | FLNC | Uncertain significance | 1460797312 | RCV000702537|RCV001771994|RCV002334359|RCV002470958; | N | 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:CN517202|MedGen:CN230736|EFO:EFO_0000407 | 7 | 128475517 | 128475517 | | | 7:g.128475517C>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.491G>A (p.Arg164Gln) | 2318 | FLNC | Uncertain significance | -1 | RCV002691203; | N | 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 | 7 | 128475518 | 128475518 | | | NC_000007.13:g.128475518G>A | - | | | NM_001458.5(FLNC):c.492G>T (p.Arg164=) | 2318 | FLNC | Likely benign | 751988597 | RCV001427492; | N | 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 | 7 | 128475519 | 128475519 | | | 7:g.128475519G>T | - | | | NM_001458.5(FLNC):c.492G>A (p.Arg164=) | 2318 | FLNC | Likely benign | 751988597 | RCV002153449; | N | 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 | 7 | 128475519 | 128475519 | | | 128475519 | - | | | NM_001458.5(FLNC):c.517G>T (p.Val173Leu) | 2318 | FLNC | Uncertain significance | 376235207 | RCV000692577|RCV003372810; | N | 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 | 7 | 128475544 | 128475544 | | | 7:g.128475544G>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.519_525delinsT (p.Pro174_Gln175del) | 2318 | FLNC | Uncertain significance | 1808059318 | RCV001240993; | N | 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 | 7 | 128475546 | 128475552 | | | 7:g.128475547_128475552del | - | | | NM_001458.5(FLNC):c.520C>T (p.Pro174Ser) | 2318 | FLNC | Uncertain significance | 1350019040 | RCV000795562; | N | 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 | 7 | 128475547 | 128475547 | | | 7:g.128475547C>T | - | | | NM_001458.5(FLNC):c.525G>C (p.Gln175His) | 2318 | FLNC | Uncertain significance | -1 | RCV003081275; | N | 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 | 7 | 128475552 | 128475552 | | | NC_000007.13:g.128475552G>C | - | | | NM_001458.5(FLNC):c.528G>C (p.Leu176=) | 2318 | FLNC | Likely benign | 2128933672 | RCV002155100; | N | 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 | 7 | 128475555 | 128475555 | | | 128475555 | - | | | NM_001458.5(FLNC):c.531del (p.Ile178fs) | 2318 | FLNC | Pathogenic | 2128933676 | RCV001875115|RCV003355595; | N | MONDO:MONDO: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:CN230736 | 7 | 128475556 | 128475556 | | | 128475555 | - | | | NM_001458.5(FLNC):c.531C>T (p.Pro177=) | 2318 | FLNC | Likely benign | 1295139676 | RCV002162365; | N | 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 | 7 | 128475558 | 128475558 | | | 128475558 | - | | | NM_001458.5(FLNC):c.532A>T (p.Ile178Phe) | 2318 | FLNC | Uncertain significance | -1 | RCV002745720; | N | 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 | 7 | 128475559 | 128475559 | | | NC_000007.13:g.128475559A>T | - | | | NM_001458.5(FLNC):c.535A>T (p.Thr179Ser) | 2318 | FLNC | Uncertain significance | -1 | RCV002908943; | N | 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 | 7 | 128475562 | 128475562 | | | NC_000007.13:g.128475562A>T | - | | | NM_001458.5(FLNC):c.543C>T (p.Phe181=) | 2318 | FLNC | Likely benign | 2128933683 | RCV001398653; | N | 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 | 7 | 128475570 | 128475570 | | | 128475570 | - | | | NM_001458.5(FLNC):c.547C>T (p.Arg183Cys) | 2318 | FLNC | Likely benign | 369221655 | RCV001215055; | N | 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 | 7 | 128475574 | 128475574 | | | 7:g.128475574C>T | - | | | NM_001458.5(FLNC):c.548G>A (p.Arg183His) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 747837803 | RCV001042033|RCV003160281; | N | 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 | 7 | 128475575 | 128475575 | | | 7:g.128475575G>A | - | | | NM_001458.5(FLNC):c.550G>A (p.Asp184Asn) | 2318 | FLNC | Uncertain significance | 1215344798 | RCV001038925|RCV002348341; | N | 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|MedGen:CN230736 | 7 | 128475577 | 128475577 | | | 7:g.128475577G>A | - | | | NM_001458.5(FLNC):c.554G>A (p.Trp185Ter) | 2318 | FLNC | Pathogenic | 1585151331 | RCV000797334|RCV003117588; | N | 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:C3661900 | 7 | 128475581 | 128475581 | | | 7:g.128475581G>A | - | | | NM_001458.5(FLNC):c.555G>A (p.Trp185Ter) | 2318 | FLNC | Pathogenic | 2128933685 | RCV002002477|RCV002344117; | N | 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 | 7 | 128475582 | 128475582 | | | 128475582 | - | | | NM_001458.5(FLNC):c.558G>A (p.Gln186=) | 2318 | FLNC | Likely benign | 532206394 | RCV001700859|RCV001724397|RCV002343795|RCV002538628; | N | MedGen: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:63273 | 7 | 128475585 | 128475585 | | | 128475585 | - | | | NM_001458.5(FLNC):c.561C>T (p.Asp187=) | 2318 | FLNC | Benign/Likely benign | 149474376 | RCV000437832|RCV000551611|RCV001712234|RCV002348187|RCV002502523; | N | 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|MedGen:C3661900|MedGen:CN230736 | 7 | 128475588 | 128475588 | | | 7:g.128475588C>T | ClinGen:CA4474052 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.563del (p.Gly188fs) | 2318 | FLNC | Pathogenic | 2128933688 | RCV001387649; | N | 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 | 7 | 128475589 | 128475589 | | | 128475588 | - | | | NM_001458.5(FLNC):c.576C>T (p.Gly192=) | 2318 | FLNC | Likely benign | 554658261 | RCV001403263|RCV002354728; | N | 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:CN230736 | 7 | 128475603 | 128475603 | | | 7:g.128475603C>T | - | | | NM_001458.5(FLNC):c.577G>A (p.Ala193Thr) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 387906587 | RCV000022429|RCV000442836|RCV000600715|RCV001535684|RCV001384941; | N | MONDO: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:0013 | 7 | 128475604 | 128475604 | | | 7:g.128475604G>A | UniProtKB:Q14315#VAR_066212,OMIM:102565.0004,ClinGen:CA128479 | C3279722 614065 Myopathy, distal, 4; | | NM_001458.5(FLNC):c.581_600del (p.Leu194fs) | 2318 | FLNC | Pathogenic | -1 | RCV002863829; | N | 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 | 7 | 128475605 | 128475624 | | | NC_000007.13:g.128475608_128475627del | - | | | NM_001458.5(FLNC):c.579C>T (p.Ala193=) | 2318 | FLNC | Likely benign | 2128933691 | RCV002210291; | N | 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 | 7 | 128475606 | 128475606 | | | 128475606 | - | | | NM_001458.5(FLNC):c.583G>A (p.Val195Met) | 2318 | FLNC | Uncertain significance | 770955703 | RCV001768731|RCV002032832; | N | MedGen: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 | 7 | 128475610 | 128475610 | | | 128475610 | - | | | NM_001458.5(FLNC):c.587A>T (p.Asp196Val) | 2318 | FLNC | Uncertain significance | 2128933694 | RCV001371464; | N | 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 | 7 | 128475614 | 128475614 | | | 128475614 | - | | | NM_001458.5(FLNC):c.588C>T (p.Asp196=) | 2318 | FLNC | Likely benign | -1 | RCV002814404; | N | 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 | 7 | 128475615 | 128475615 | | | | - | | | NM_001458.5(FLNC):c.590A>G (p.Asn197Ser) | 2318 | FLNC | Uncertain significance | 1008787584 | RCV001037522|RCV002354982; | N | 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|MedGen:CN230736 | 7 | 128475617 | 128475617 | | | 7:g.128475617A>G | - | | | NM_001458.5(FLNC):c.592_593del (p.Cys198fs) | 2318 | FLNC | Pathogenic | 2128933700 | RCV001949583; | N | 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 | 7 | 128475619 | 128475620 | | | 128475618 | - | | | NM_001458.5(FLNC):c.594C>T (p.Cys198=) | 2318 | FLNC | Likely benign | 375617228 | RCV000998904|RCV001470635|RCV002354913; | N | MedGen: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 | 7 | 128475621 | 128475621 | | | 7:g.128475621C>T | - | | | NM_001458.5(FLNC):c.595G>A (p.Ala199Thr) | 2318 | FLNC | Uncertain significance | 1410315376 | RCV000684928|RCV001560873; | N | 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:CN517202 | 7 | 128475622 | 128475622 | | | NC_000007.13:g.128475622G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.597C>T (p.Ala199=) | 2318 | FLNC | Benign/Likely benign | 143942649 | RCV000244929|RCV000530980|RCV001532118|RCV002354448|RCV002485136; | N | MedGen: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:CN230736 | 7 | 128475624 | 128475624 | | | 7:g.128475624C>T | ClinGen:CA241430 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.600C>T (p.Pro200=) | 2318 | FLNC | Benign/Likely benign | 202105410 | RCV000513411|RCV001086125|RCV001706629|RCV002356563|RCV003150210; | N | 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:CN169374|MedGen:CN230736 | 7 | 128475627 | 128475627 | | | 7:g.128475627C>T | ClinGen:CA4474057 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.601G>A (p.Gly201Ser) | 2318 | FLNC | Uncertain significance | 1808062939 | RCV001213510|RCV002356912; | N | 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:CN230736 | 7 | 128475628 | 128475628 | | | 7:g.128475628G>A | - | | | NM_001458.5(FLNC):c.601G>C (p.Gly201Arg) | 2318 | FLNC | Uncertain significance | -1 | RCV002914656; | N | 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 | 7 | 128475628 | 128475628 | | | NC_000007.13:g.128475628G>C | - | | | NM_001458.5(FLNC):c.601+8G>C | 2318 | FLNC | Likely benign | -1 | RCV003073877; | N | 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 | 7 | 128475636 | 128475636 | | | NC_000007.13:g.128475636G>C | - | | | NM_001458.5(FLNC):c.601+13G>T | 2318 | FLNC | Likely benign | 1244760459 | RCV002081417; | N | 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 | 7 | 128475641 | 128475641 | | | 128475641 | - | | | NM_001458.5(FLNC):c.601+17G>A | 2318 | FLNC | Likely benign | 2128933708 | RCV002166122; | N | 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 | 7 | 128475645 | 128475645 | | | 128475645 | - | | | NM_001458.5(FLNC):c.601+20C>A | 2318 | FLNC | Likely benign | 2128933710 | RCV002200024; | N | MONDO:MONDO: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 | 7 | 128475648 | 128475648 | | | 128475648 | - | | | NM_001458.5(FLNC):c.602-13A>G | 2318 | FLNC | Likely benign | 548449826 | RCV002121194; | N | 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 | 7 | 128477201 | 128477201 | | | 128477201 | - | | | NM_001458.5(FLNC):c.602-11C>T | 2318 | FLNC | Benign | 371111092 | RCV000609279|RCV002062165; | N | MedGen: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 | 7 | 128477203 | 128477203 | | | 7:g.128477203C>T | ClinGen:CA4474077 | CN169374 not specified; | | NM_001458.5(FLNC):c.602-8C>T | 2318 | FLNC | Likely benign | 2128934052 | RCV002156450; | N | 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 | 7 | 128477206 | 128477206 | | | 128477206 | - | | | NM_001458.5(FLNC):c.602-7T>A | 2318 | FLNC | Likely benign | -1 | RCV002619278; | N | 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 | 7 | 128477207 | 128477207 | | | NC_000007.13:g.128477207T>A | - | | | NM_001458.5(FLNC):c.602-4C>T | 2318 | FLNC | Likely benign | -1 | RCV002666739; | N | 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 | 7 | 128477210 | 128477210 | | | NC_000007.13:g.128477210C>T | - | | | NM_001458.5(FLNC):c.602-3C>T | 2318 | FLNC | Uncertain significance | 774453069 | RCV001346254; | N | 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 | 7 | 128477211 | 128477211 | | | 128477211 | - | | | NM_001458.5(FLNC):c.606C>G (p.Leu202=) | 2318 | FLNC | Uncertain significance | 1246016210 | RCV001307311; | N | 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 | 7 | 128477218 | 128477218 | | | 128477218 | - | | | NM_001458.5(FLNC):c.609C>T (p.Cys203=) | 2318 | FLNC | Likely benign | 1455396332 | RCV000649221; | N | 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 | 7 | 128477221 | 128477221 | | | 7:g.128477221C>T | ClinGen:CA457579851 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.609C>A (p.Cys203Ter) | 2318 | FLNC | Pathogenic | 1455396332 | RCV001946967; | N | 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 | 7 | 128477221 | 128477221 | | | 128477221 | - | | | NM_001458.5(FLNC):c.612C>T (p.Pro204=) | 2318 | FLNC | Likely benign | 368103032 | RCV000527344|RCV002358579|RCV002263788; | N | 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:C3661900 | 7 | 128477224 | 128477224 | | | 7:g.128477224C>T | ClinGen:CA4474080 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.613G>A (p.Asp205Asn) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 767740333 | RCV000539807|RCV003372750; | N | 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:CN230736 | 7 | 128477225 | 128477225 | | | NC_000007.13:g.128477225G>A | ClinGen:CA4474081 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.627G>A (p.Trp209Ter) | 2318 | FLNC | Pathogenic | -1 | RCV003009847; | N | 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 | 7 | 128477239 | 128477239 | | | NC_000007.13:g.128477239G>A | - | | | NM_001458.5(FLNC):c.635A>G (p.Asn212Ser) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 756723697 | RCV000699223|RCV002360787; | N | 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:CN230736 | 7 | 128477247 | 128477247 | | | 7:g.128477247A>G | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.635A>T (p.Asn212Ile) | 2318 | FLNC | Uncertain significance | 756723697 | RCV000794758; | N | 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 | 7 | 128477247 | 128477247 | | | 7:g.128477247A>T | - | | | NM_001458.5(FLNC):c.636C>T (p.Asn212=) | 2318 | FLNC | Likely benign | 1370543390 | RCV002209694; | N | 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 | 7 | 128477248 | 128477248 | | | 128477248 | - | | | NM_001458.5(FLNC):c.642C>T (p.Pro214=) | 2318 | FLNC | Likely benign | 2291558 | RCV000530478|RCV001721310|RCV002365534; | N | 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:CN230736 | 7 | 128477254 | 128477254 | | | 7:g.128477254C>T | ClinGen:CA4474084 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.642C>G (p.Pro214=) | 2318 | FLNC | Likely benign | 2291558 | RCV001446611; | N | 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 | 7 | 128477254 | 128477254 | | | 128477254 | - | | | NM_001458.5(FLNC):c.643G>A (p.Val215Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 754309921 | RCV000481861|RCV000663409|RCV000703450|RCV000765930|RCV002367659|RCV003419818; | N | MedGen: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:C327 | 7 | 128477255 | 128477255 | | | 7:g.128477255G>A | ClinGen:CA4474085 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.651C>T (p.Asn217=) | 2318 | FLNC | Likely benign | 370425863 | RCV001458280|RCV002368402|RCV002501607|RCV003323884|RCV001816004; | N | 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|MONDO:MONDO:0013550,MedGen:C327 | 7 | 128477263 | 128477263 | | | 128477263 | - | | | NM_001458.5(FLNC):c.652G>A (p.Ala218Thr) | 2318 | FLNC | Uncertain significance | 777415462 | RCV000819744|RCV002363146; | N | 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 | 7 | 128477264 | 128477264 | | | 7:g.128477264G>A | - | | | NM_001458.5(FLNC):c.655C>T (p.Arg219Trp) | 2318 | FLNC | Uncertain significance | 931787034 | RCV001984942; | N | 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:614065, Orphanet:63273 | 7 | 128477267 | 128477267 | | | 128477267 | - | | | NM_001458.5(FLNC):c.658del (p.Glu220fs) | 2318 | FLNC | Pathogenic | 2128934070 | RCV001951159; | N | 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 | 7 | 128477268 | 128477268 | | | 128477267 | - | | | NM_001458.5(FLNC):c.656G>A (p.Arg219Gln) | 2318 | FLNC | Uncertain significance | -1 | RCV002705376; | N | 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 | 7 | 128477268 | 128477268 | | | NC_000007.13:g.128477268G>A | - | | | NM_001458.5(FLNC):c.658G>C (p.Glu220Gln) | 2318 | FLNC | Uncertain significance | 2128934071 | RCV001890072; | N | 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:614065, Orphanet:63273 | 7 | 128477270 | 128477270 | | | 128477270 | - | | | NM_001458.5(FLNC):c.661G>A (p.Ala221Thr) | 2318 | FLNC | Uncertain significance | 1585152566 | RCV000823401|RCV003145209; | N | 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:CN517202 | 7 | 128477273 | 128477273 | | | 7:g.128477273G>A | - | | | NM_001458.5(FLNC):c.664A>T (p.Met222Leu) | 2318 | FLNC | Uncertain significance | 2128934074 | RCV001366663; | N | 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 | 7 | 128477276 | 128477276 | | | 128477276 | - | | | NM_001458.5(FLNC):c.664A>G (p.Met222Val) | 2318 | FLNC | Pathogenic | 2128934074 | RCV001996617; | N | 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 | 7 | 128477276 | 128477276 | | | 128477276 | - | | | NM_001458.5(FLNC):c.665T>C (p.Met222Thr) | 2318 | FLNC | Pathogenic | -1 | RCV002284052; | N | MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273 | 7 | 128477277 | 128477277 | | | 128477277 | OMIM:102565.0011 | | | NM_001458.5(FLNC):c.669G>A (p.Gln223=) | 2318 | FLNC | Likely benign | 1048868093 | RCV001485992; | N | 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 | 7 | 128477281 | 128477281 | | | 128477281 | - | | | NM_001458.5(FLNC):c.671del (p.Gln224fs) | 2318 | FLNC | Pathogenic | 2128934076 | RCV001894566; | N | 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 | 7 | 128477283 | 128477283 | | | 128477282 | - | | | NM_001458.5(FLNC):c.673G>T (p.Ala225Ser) | 2318 | FLNC | Uncertain significance | 1808127026 | RCV001247100; | N | 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 | 7 | 128477285 | 128477285 | | | 7:g.128477285G>T | - | | | NM_001458.5(FLNC):c.674C>T (p.Ala225Val) | 2318 | FLNC | Uncertain significance | -1 | RCV003049972; | N | 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 | 7 | 128477286 | 128477286 | | | NC_000007.13:g.128477286C>T | - | | | NM_001458.5(FLNC):c.675C>T (p.Ala225=) | 2318 | FLNC | Likely benign | 780730123 | RCV001393516|RCV002368240; | N | 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:CN230736 | 7 | 128477287 | 128477287 | | | 128477287 | - | | | NM_001458.5(FLNC):c.675C>G (p.Ala225=) | 2318 | FLNC | Likely benign | 780730123 | RCV002167324; | N | 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 | 7 | 128477287 | 128477287 | | | 128477287 | - | | | NM_001458.5(FLNC):c.676G>A (p.Asp226Asn) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 745775171 | RCV000649134|RCV002360623; | N | 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:CN230736 | 7 | 128477288 | 128477288 | | | 7:g.128477288G>A | ClinGen:CA4474091 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.678C>T (p.Asp226=) | 2318 | FLNC | Likely benign | 769791248 | RCV000539553|RCV001591260|RCV002367922; | N | 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:CN230736 | 7 | 128477290 | 128477290 | | | NC_000007.13:g.128477290C>T | ClinGen:CA4474092 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.678C>A (p.Asp226Glu) | 2318 | FLNC | Uncertain significance | -1 | RCV002288172|RCV003097753; | N | MedGen: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 | 7 | 128477290 | 128477290 | | | 128477290 | - | | | NM_001458.5(FLNC):c.679G>A (p.Asp227Asn) | 2318 | FLNC | Uncertain significance | -1 | RCV002586450; | N | 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 | 7 | 128477291 | 128477291 | | | NC_000007.13:g.128477291G>A | - | | | NM_001458.5(FLNC):c.690G>A (p.Gly230=) | 2318 | FLNC | Likely benign | 775254295 | RCV000649238; | N | 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 | 7 | 128477302 | 128477302 | | | 7:g.128477302G>A | ClinGen:CA4474093 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.691G>T (p.Val231Leu) | 2318 | FLNC | Uncertain significance | -1 | RCV002686138; | N | 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 | 7 | 128477303 | 128477303 | | | NC_000007.13:g.128477303G>T | - | | | NM_001458.5(FLNC):c.697C>T (p.Gln233Ter) | 2318 | FLNC | Pathogenic | 1554397464 | RCV000530479|RCV001382203; | N | MedGen: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:63273 | 7 | 128477309 | 128477309 | | | NC_000007.13:g.128477309C>T | ClinGen:CA369221671 | CN239310 Dilated Cardiomyopathy, Dominant; | | NM_001458.5(FLNC):c.699+1G>A | 2318 | FLNC | Likely pathogenic | 1562991776 | RCV000687431; | N | 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 | 7 | 128477312 | 128477312 | | | 7:g.128477312G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.699+3_699+7del | 2318 | FLNC | Uncertain significance | -1 | RCV003055437; | N | 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 | 7 | 128477314 | 128477318 | | | NC_000007.13:g.128477314_128477318del | - | | | NM_001458.5(FLNC):c.699+5A>G | 2318 | FLNC | Uncertain significance | 1808129501 | RCV001916578; | N | 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:614065, Orphanet:63273 | 7 | 128477316 | 128477316 | | | 128477316 | - | | | NM_001458.5(FLNC):c.699+8C>T | 2318 | FLNC | Likely benign | 1327027331 | RCV001451681; | N | 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 | 7 | 128477319 | 128477319 | | | 128477319 | - | | | NM_001458.5(FLNC):c.699+9dup | 2318 | FLNC | Likely benign | -1 | RCV003055438; | N | 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 | 7 | 128477319 | 128477320 | | | NC_000007.13:g.128477320dup | - | | | NM_001458.5(FLNC):c.699+9G>A | 2318 | FLNC | Benign | 749055253 | RCV000897423; | N | MONDO:MONDO: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 | 7 | 128477320 | 128477320 | | | 7:g.128477320G>A | - | | | NM_001458.5(FLNC):c.699+9G>T | 2318 | FLNC | Likely benign | 749055253 | RCV002205352; | N | 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 | 7 | 128477320 | 128477320 | | | 128477320 | - | | | NM_001458.5(FLNC):c.699+18G>A | 2318 | FLNC | Likely benign | 2128934092 | RCV002125854; | N | 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:614065, Orphanet:63273 | 7 | 128477329 | 128477329 | | | 128477329 | - | | | NM_001458.5(FLNC):c.699+20del | 2318 | FLNC | Likely benign | 1271212198 | RCV002205738; | N | 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:614065, Orphanet:63273 | 7 | 128477331 | 128477331 | | | 128477330 | - | | | NM_001458.5(FLNC):c.700-20A>G | 2318 | FLNC | Likely benign | 1408797410 | RCV002092267; | N | 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 | 7 | 128477432 | 128477432 | | | 128477432 | - | | | NM_001458.5(FLNC):c.700-18C>G | 2318 | FLNC | Likely benign | 1305665823 | RCV002182490; | N | 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 | 7 | 128477434 | 128477434 | | | 128477434 | - | | | NM_001458.5(FLNC):c.700-5C>T | 2318 | FLNC | Likely benign | 745442558 | RCV000840213|RCV001395985; | N | 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:63273 | 7 | 128477447 | 128477447 | | | 7:g.128477447C>T | - | | | NM_001458.5(FLNC):c.700-4G>T | 2318 | FLNC | Likely benign | 755636271 | RCV002167857; | N | 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 | 7 | 128477448 | 128477448 | | | 128477448 | - | | | NM_001458.5(FLNC):c.700-4G>A | 2318 | FLNC | Likely benign | -1 | RCV003121863; | N | 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 | 7 | 128477448 | 128477448 | | | NC_000007.13:g.128477448G>A | - | | | NM_001458.5(FLNC):c.700-2A>G | 2318 | FLNC | Uncertain significance | -1 | RCV003226041; | N | MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273 | 7 | 128477450 | 128477450 | | | | - | | | NM_001458.5(FLNC):c.707C>T (p.Ala236Val) | 2318 | FLNC | Uncertain significance | 771789906 | RCV001239457|RCV002366054; | N | 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:CN230736 | 7 | 128477459 | 128477459 | | | 7:g.128477459C>T | - | | | NM_001458.5(FLNC):c.711T>G (p.Pro237=) | 2318 | FLNC | Likely benign | 749217540 | RCV002065841|RCV002363363; | N | 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 | 7 | 128477463 | 128477463 | | | 7:g.128477463T>G | - | | | NM_001458.5(FLNC):c.714G>A (p.Glu238=) | 2318 | FLNC | Likely benign | 1249772444 | RCV001875586; | N | 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 | 7 | 128477466 | 128477466 | | | 128477466 | - | | | NM_001458.5(FLNC):c.719T>C (p.Ile240Thr) | 2318 | FLNC | Uncertain significance | 778626535 | RCV002023512; | N | 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:614065, Orphanet:63273 | 7 | 128477471 | 128477471 | | | 128477471 | - | | | NM_001458.5(FLNC):c.720T>C (p.Ile240=) | 2318 | FLNC | Benign | 2291560 | RCV000117081|RCV000711693|RCV001510683|RCV002371949; | N | MedGen: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:CN230736 | 7 | 128477472 | 128477472 | | | 7:g.128477472T>C | ClinGen:CA152877 | CN169374 not specified; | | NM_001458.5(FLNC):c.720_721inv (p.Val241Met) | 2318 | FLNC | Uncertain significance | -1 | RCV001347575; | N | 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 | 7 | 128477472 | 128477473 | | | 128477472 | - | | | NM_001458.5(FLNC):c.730A>G (p.Asn244Asp) | 2318 | FLNC | Uncertain significance | 1020489966 | RCV001925028; | N | 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 | 7 | 128477482 | 128477482 | | | 128477482 | - | | | NM_001458.5(FLNC):c.731A>G (p.Asn244Ser) | 2318 | FLNC | Uncertain significance | 773579752 | RCV000692827|RCV003279004; | N | 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 | 7 | 128477483 | 128477483 | | | 7:g.128477483A>G | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.732C>T (p.Asn244=) | 2318 | FLNC | Benign/Likely benign | 566461523 | RCV000876968|RCV002382012; | N | 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 | 7 | 128477484 | 128477484 | | | 7:g.128477484C>T | - | | | NM_001458.5(FLNC):c.733G>A (p.Val245Met) | 2318 | FLNC | Uncertain significance | -1 | RCV002284053|RCV002290862|RCV002382502; | N | MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047, Orphanet:75249|MedGen:CN230736 | 7 | 128477485 | 128477485 | | | 128477485 | OMIM:102565.0012 | | | NM_001458.5(FLNC):c.748G>A (p.Val250Ile) | 2318 | FLNC | Uncertain significance | 1562991895 | RCV001296928; | N | 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 | 7 | 128477500 | 128477500 | | | 128477500 | - | | | NM_001458.5(FLNC):c.752T>C (p.Met251Thr) | 2318 | FLNC | Likely pathogenic | 387906586 | RCV000022428|RCV001781296; | N | MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273|MedGen:CN517202 | 7 | 128477504 | 128477504 | | | 7:g.128477504T>C | ClinGen:CA128477,UniProtKB:Q14315#VAR_066213,OMIM:102565.0003 | C3279722 614065 Myopathy, distal, 4; | | NM_001458.5(FLNC):c.760C>T (p.Leu254=) | 2318 | FLNC | Likely benign | 1808141451 | RCV002130403; | N | 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 | 7 | 128477512 | 128477512 | | | 128477512 | - | | | NM_001458.5(FLNC):c.767A>G (p.Gln256Arg) | 2318 | FLNC | Uncertain significance | 760009430 | RCV001904378; | N | 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 | 7 | 128477519 | 128477519 | | | 128477519 | - | | | NM_001458.5(FLNC):c.774del (p.Lys259fs) | 2318 | FLNC | Pathogenic | 1554397506 | RCV000536371; | N | 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 | 7 | 128477523 | 128477523 | | | NC_000007.13:g.128477526del | ClinGen:CA658657715 | CN239310 Dilated Cardiomyopathy, Dominant; | | NM_001458.5(FLNC):c.774C>G (p.Pro258=) | 2318 | FLNC | Likely benign | 2128934181 | RCV002197348; | N | MONDO:MONDO: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 | 7 | 128477526 | 128477526 | | | 128477526 | - | | | NM_001458.5(FLNC):c.777G>A (p.Lys259=) | 2318 | FLNC | Benign | 765604975 | RCV001362534; | N | 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 | 7 | 128477529 | 128477529 | | | 128477529 | - | | | NM_001458.5(FLNC):c.783G>C (p.Lys261Asn) | 2318 | FLNC | Uncertain significance | 976229219 | RCV001327300; | N | 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 | 7 | 128477535 | 128477535 | | | 128477535 | - | | | NM_001458.5(FLNC):c.794del (p.Gly265fs) | 2318 | FLNC | Pathogenic | 2128934191 | RCV001974895; | N | 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 | 7 | 128477545 | 128477545 | | | 128477544 | - | | | NM_001458.5(FLNC):c.795T>C (p.Gly265=) | 2318 | FLNC | Benign | 2291561 | RCV000117084|RCV000711695|RCV001510684|RCV002415598; | N | MedGen: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:CN230736 | 7 | 128477547 | 128477547 | | | 7:g.128477547T>C | ClinGen:CA152884 | CN169374 not specified; | | NM_001458.5(FLNC):c.796G>A (p.Ala266Thr) | 2318 | FLNC | Uncertain significance | -1 | RCV002958646; | N | 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 | 7 | 128477548 | 128477548 | | | NC_000007.13:g.128477548G>A | - | | | NM_001458.5(FLNC):c.797C>T (p.Ala266Val) | 2318 | FLNC | Uncertain significance | -1 | RCV002972036; | N | 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 | 7 | 128477549 | 128477549 | | | NC_000007.13:g.128477549C>T | - | | | NM_001458.5(FLNC):c.798C>T (p.Ala266=) | 2318 | FLNC | Likely benign | 1350220887 | RCV002127145; | N | 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 | 7 | 128477550 | 128477550 | | | 128477550 | - | | | NM_001458.5(FLNC):c.801del (p.Val268fs) | 2318 | FLNC | Pathogenic | 2128934193 | RCV001771780|RCV002034498; | N | MONDO: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:614065 | 7 | 128477553 | 128477553 | | | 128477552 | - | | | NM_001458.5(FLNC):c.802G>A (p.Val268Ile) | 2318 | FLNC | Uncertain significance | 1210929657 | RCV001361313|RCV002413856; | N | 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:CN230736 | 7 | 128477554 | 128477554 | | | 128477554 | - | | | NM_001458.5(FLNC):c.805C>T (p.Arg269Ter) | 2318 | FLNC | Pathogenic | 755583250 | RCV000649143|RCV002280134|RCV003303061; | N | 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:CN517202|MedGen:CN230736 | 7 | 128477557 | 128477557 | | | NC_000007.13:g.128477557C>T | ClinGen:CA4474126 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.806G>A (p.Arg269Gln) | 2318 | FLNC | Uncertain significance | 1585152863 | RCV000799567; | N | 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 | 7 | 128477558 | 128477558 | | | 7:g.128477558G>A | - | | | NM_001458.5(FLNC):c.824C>T (p.Pro275Leu) | 2318 | FLNC | Likely benign | 1249075788 | RCV000687388; | N | 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 | 7 | 128477576 | 128477576 | | | 7:g.128477576C>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.824C>A (p.Pro275His) | 2318 | FLNC | Uncertain significance | 1249075788 | RCV001239648; | N | 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 | 7 | 128477576 | 128477576 | | | 7:g.128477576C>A | - | | | NM_001458.5(FLNC):c.835A>G (p.Ile279Val) | 2318 | FLNC | Uncertain significance | 1243812099 | RCV001987694; | N | 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 | 7 | 128477587 | 128477587 | | | 128477587 | - | | | NM_001458.5(FLNC):c.837C>T (p.Ile279=) | 2318 | FLNC | Likely benign | 754916664 | RCV001550081|RCV002440789|RCV002072032; | N | MedGen: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:171445 | 7 | 128477589 | 128477589 | | | 128477589 | - | | | NM_001458.5(FLNC):c.838G>A (p.Ala280Thr) | 2318 | FLNC | Uncertain significance | -1 | RCV003085981; | N | 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 | 7 | 128477590 | 128477590 | | | NC_000007.13:g.128477590G>A | - | | | NM_001458.5(FLNC):c.842A>G (p.Tyr281Cys) | 2318 | FLNC | Uncertain significance | 1202164075 | RCV001218230; | N | 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 | 7 | 128477594 | 128477594 | | | 7:g.128477594A>G | - | | | NM_001458.5(FLNC):c.843T>C (p.Tyr281=) | 2318 | FLNC | Likely benign | -1 | RCV003067987; | N | 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 | 7 | 128477595 | 128477595 | | | | - | | | NM_001458.5(FLNC):c.850+1G>A | 2318 | FLNC | Likely pathogenic | 1808146842 | RCV001976391; | N | 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 | 7 | 128477603 | 128477603 | | | 128477603 | - | | | NM_001458.5(FLNC):c.850+1G>T | 2318 | FLNC | Likely pathogenic | 1808146842 | RCV001976571; | N | 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 | 7 | 128477603 | 128477603 | | | 128477603 | - | | | NM_001458.5(FLNC):c.850+4T>G | 2318 | FLNC | Uncertain significance | 368602593 | RCV001036326; | N | 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 | 7 | 128477606 | 128477606 | | | 7:g.128477606T>G | - | | | NM_001458.5(FLNC):c.850+4T>C | 2318 | FLNC | Uncertain significance | 368602593 | RCV001964932; | N | 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:614065, Orphanet:63273 | 7 | 128477606 | 128477606 | | | 128477606 | - | | | NM_001458.5(FLNC):c.850+5G>A | 2318 | FLNC | Uncertain significance | 2128934199 | RCV002045613; | N | 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 | 7 | 128477607 | 128477607 | | | 128477607 | - | | | NM_001458.5(FLNC):c.850+11G>A | 2318 | FLNC | Likely benign | -1 | RCV002746758; | N | 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 | 7 | 128477613 | 128477613 | | | NC_000007.13:g.128477613G>A | - | | | NM_001458.5(FLNC):c.850+12C>T | 2318 | FLNC | Uncertain significance | -1 | RCV003006023; | N | 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 | 7 | 128477614 | 128477614 | | | NC_000007.13:g.128477614C>T | - | | | NM_001458.5(FLNC):c.850+18G>A | 2318 | FLNC | Benign | 55907818 | RCV000252828|RCV002058060; | N | MedGen: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 | 7 | 128477620 | 128477620 | | | NC_000007.13:g.128477620G>A | ClinGen:CA4474135 | CN169374 not specified; | | NM_001458.5(FLNC):c.850+19C>A | 2318 | FLNC | Likely benign | 776614185 | RCV002072781; | N | 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 | 7 | 128477621 | 128477621 | | | 128477621 | - | | | NM_001458.5(FLNC):c.850+20G>A | 2318 | FLNC | Likely benign | 776079280 | RCV001872536; | N | 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 | 7 | 128477622 | 128477622 | | | 128477622 | - | | | NM_001458.5(FLNC):c.851-7C>A | 2318 | FLNC | Benign/Likely benign | 576908770 | RCV000649270|RCV001584494; | N | 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:C3661900 | 7 | 128477684 | 128477684 | | | NC_000007.13:g.128477684C>A | ClinGen:CA4474149 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.851-5C>T | 2318 | FLNC | Conflicting interpretations of pathogenicity | 758216356 | RCV000430081|RCV000649265|RCV002446712; | N | MedGen: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:CN230736 | 7 | 128477686 | 128477686 | | | 7:g.128477686C>T | ClinGen:CA4474150 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.851-4G>C | 2318 | FLNC | Likely benign | 372747855 | RCV000649259|RCV002449075; | N | 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:CN230736 | 7 | 128477687 | 128477687 | | | 7:g.128477687G>C | ClinGen:CA4474151 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.851-4G>A | 2318 | FLNC | Likely benign | 372747855 | RCV000952477|RCV001091005|RCV002409269; | N | 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:CN517202|MedGen:CN230736 | 7 | 128477687 | 128477687 | | | 7:g.128477687G>A | - | | | NM_001458.5(FLNC):c.853A>G (p.Ile285Val) | 2318 | FLNC | Uncertain significance | -1 | RCV003078582; | N | 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 | 7 | 128477693 | 128477693 | | | NC_000007.13:g.128477693A>G | - | | | NM_001458.5(FLNC):c.855C>T (p.Ile285=) | 2318 | FLNC | Likely benign | 540753816 | RCV001421712|RCV002449144; | N | 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:CN230736 | 7 | 128477695 | 128477695 | | | 128477695 | - | | | NM_001458.5(FLNC):c.856G>C (p.Glu286Gln) | 2318 | FLNC | Uncertain significance | 1274480597 | RCV000803448|RCV002442676; | N | 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 | 7 | 128477696 | 128477696 | | | 7:g.128477696G>C | - | | | NM_001458.5(FLNC):c.856G>A (p.Glu286Lys) | 2318 | FLNC | Uncertain significance | 1274480597 | RCV001943209; | N | 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 | 7 | 128477696 | 128477696 | | | 128477696 | - | | | NM_001458.5(FLNC):c.862C>A (p.Gln288Lys) | 2318 | FLNC | Uncertain significance | 1808151858 | RCV001967727; | N | 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 | 7 | 128477702 | 128477702 | | | 128477702 | - | | | NM_001458.5(FLNC):c.863A>G (p.Gln288Arg) | 2318 | FLNC | Uncertain significance | 1808151950 | RCV001298481; | N | 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 | 7 | 128477703 | 128477703 | | | 128477703 | - | | | NM_001458.5(FLNC):c.867C>G (p.Gly289=) | 2318 | FLNC | Likely benign | 775809908 | RCV001481697; | N | 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 | 7 | 128477707 | 128477707 | | | 128477707 | - | | | NM_001458.5(FLNC):c.868A>G (p.Asn290Asp) | 2318 | FLNC | Uncertain significance | 1329109141 | RCV001305150|RCV002375371|RCV003128778; | N | 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|MedGen:CN517202 | 7 | 128477708 | 128477708 | | | 128477708 | - | | | NM_001458.5(FLNC):c.873C>T (p.Thr291=) | 2318 | FLNC | Likely benign | 749823519 | RCV001471997; | N | 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 | 7 | 128477713 | 128477713 | | | 128477713 | - | | | NM_001458.5(FLNC):c.874G>A (p.Val292Met) | 2318 | FLNC | Uncertain significance | 1275499234 | RCV000702538; | N | 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 | 7 | 128477714 | 128477714 | | | 7:g.128477714G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.874G>T (p.Val292Leu) | 2318 | FLNC | Uncertain significance | 1275499234 | RCV000818757; | N | 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 | 7 | 128477714 | 128477714 | | | 7:g.128477714G>T | - | | | NM_001458.5(FLNC):c.882G>A (p.Gln294=) | 2318 | FLNC | Likely benign | 1220464040 | RCV000980477; | N | 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 | 7 | 128477722 | 128477722 | | | 7:g.128477722G>A | - | | | NM_001458.5(FLNC):c.886G>A (p.Ala296Thr) | 2318 | FLNC | Uncertain significance | -1 | RCV002619303; | N | 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 | 7 | 128477726 | 128477726 | | | NC_000007.13:g.128477726G>A | - | | | NM_001458.5(FLNC):c.887C>T (p.Ala296Val) | 2318 | FLNC | Uncertain significance | 2128934235 | RCV002041487|RCV003314697; | N | 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 | 7 | 128477727 | 128477727 | | | 128477727 | - | | | NM_001458.5(FLNC):c.891C>T (p.His297=) | 2318 | FLNC | Likely benign | -1 | RCV002861918; | N | 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 | 7 | 128477731 | 128477731 | | | | - | | | NM_001458.5(FLNC):c.896_897delinsTT (p.Thr299Ile) | 2318 | FLNC | Uncertain significance | 1562992080 | RCV000707630; | N | 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 | 7 | 128477736 | 128477737 | | | NC_000007.13:g.128477736_128477737delinsTT | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.896C>T (p.Thr299Ile) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 774743325 | RCV001071746|RCV002375004; | N | 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 | 7 | 128477736 | 128477736 | | | 7:g.128477736C>T | - | | | NM_001458.5(FLNC):c.897C>T (p.Thr299=) | 2318 | FLNC | Likely benign | 575141899 | RCV001477266|RCV002377818; | N | 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|MedGen:CN230736 | 7 | 128477737 | 128477737 | | | 128477737 | - | | | NM_001458.5(FLNC):c.898G>A (p.Val300Met) | 2318 | FLNC | Uncertain significance | 765885585 | RCV001038528|RCV002372760; | N | 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|MedGen:CN230736 | 7 | 128477738 | 128477738 | | | 7:g.128477738G>A | - | | | NM_001458.5(FLNC):c.899T>G (p.Val300Gly) | 2318 | FLNC | Uncertain significance | 2128934238 | RCV001906343; | N | 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 | 7 | 128477739 | 128477739 | | | 128477739 | - | | | NM_001458.5(FLNC):c.904A>G (p.Thr302Ala) | 2318 | FLNC | Uncertain significance | 1410531577 | RCV000714893|RCV000714894|RCV000998905|RCV000808416|RCV003165949; | N | MONDO: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:61704 | 7 | 128477744 | 128477744 | | | NC_000007.13:g.128477744A>G | - | | | NM_001458.5(FLNC):c.905C>T (p.Thr302Met) | 2318 | FLNC | Uncertain significance | 776362922 | RCV001064615|RCV001729788|RCV002374969|RCV002482085; | N | 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:C3661900|MedGen:CN230736|MONDO:MONDO:001 | 7 | 128477745 | 128477745 | | | 7:g.128477745C>T | - | | | NM_001458.5(FLNC):c.906G>A (p.Thr302=) | 2318 | FLNC | Likely benign | 758924780 | RCV002080471; | N | 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 | 7 | 128477746 | 128477746 | | | 128477746 | - | | | NM_001458.5(FLNC):c.907G>A (p.Val303Met) | 2318 | FLNC | Uncertain significance | 1554397562 | RCV000537693; | N | 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 | 7 | 128477747 | 128477747 | | | NC_000007.13:g.128477747G>A | ClinGen:CA369223065 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.909G>A (p.Val303=) | 2318 | FLNC | Likely benign | -1 | RCV003091520; | N | 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 | 7 | 128477749 | 128477749 | | | | - | | | NM_001458.5(FLNC):c.912C>T (p.Asp304=) | 2318 | FLNC | Likely benign | 201239973 | RCV000556985|RCV002377141|RCV001565232; | N | 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:C3661900 | 7 | 128477752 | 128477752 | | | NC_000007.13:g.128477752C>T | ClinGen:CA4474165 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.913G>A (p.Ala305Thr) | 2318 | FLNC | Uncertain significance | 1312282118 | RCV001314048|RCV002375397; | N | 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 | 7 | 128477753 | 128477753 | | | 128477753 | - | | | NM_001458.5(FLNC):c.914C>G (p.Ala305Gly) | 2318 | FLNC | Uncertain significance | 966097091 | RCV001373564; | N | 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 | 7 | 128477754 | 128477754 | | | 128477754 | - | | | NM_001458.5(FLNC):c.918C>T (p.Gly306=) | 2318 | FLNC | Benign/Likely benign | 200471132 | RCV001326316|RCV002377421; | N | MONDO:MONDO: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 | 7 | 128477758 | 128477758 | | | 128477758 | - | | | NM_001458.5(FLNC):c.919G>A (p.Val307Met) | 2318 | FLNC | Uncertain significance | 763968152 | RCV000550419|RCV002377142; | N | 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:CN230736 | 7 | 128477759 | 128477759 | | | 7:g.128477759G>A | ClinGen:CA4474168 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.924C>T (p.Gly308=) | 2318 | FLNC | Likely benign | 541392206 | RCV000526545; | N | 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 | 7 | 128477764 | 128477764 | | | 7:g.128477764C>T | ClinGen:CA4474170 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.925G>A (p.Glu309Lys) | 2318 | FLNC | Uncertain significance | 781212262 | RCV000686698|RCV000765931|RCV002369830; | N | 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|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047 | 7 | 128477765 | 128477765 | | | NC_000007.13:g.128477765G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.934G>A (p.Val312Ile) | 2318 | FLNC | Uncertain significance | 2128934250 | RCV001941076; | N | 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 | 7 | 128477774 | 128477774 | | | 128477774 | - | | | NM_001458.5(FLNC):c.935T>G (p.Val312Gly) | 2318 | FLNC | Uncertain significance | 1808156535 | RCV001312749; | N | 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 | 7 | 128477775 | 128477775 | | | 128477775 | - | | | NM_001458.5(FLNC):c.936C>T (p.Val312=) | 2318 | FLNC | Likely benign | 1228125281 | RCV002113937; | N | 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 | 7 | 128477776 | 128477776 | | | 128477776 | - | | | NM_001458.5(FLNC):c.942C>T (p.Ile314=) | 2318 | FLNC | Likely benign | 746121984 | RCV001495259|RCV001562178|RCV002449308; | N | 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:C3661900|MedGen:CN230736 | 7 | 128477782 | 128477782 | | | 128477782 | - | | | NM_001458.5(FLNC):c.943G>A (p.Glu315Lys) | 2318 | FLNC | Uncertain significance | 756104407 | RCV001369656; | N | 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 | 7 | 128477783 | 128477783 | | | 128477783 | - | | | NM_001458.5(FLNC):c.949C>A (p.Pro317Thr) | 2318 | FLNC | Uncertain significance | 1562992145 | RCV000702353; | N | 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 | 7 | 128477789 | 128477789 | | | 7:g.128477789C>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.953A>C (p.Glu318Ala) | 2318 | FLNC | Uncertain significance | 2128934254 | RCV002010291; | N | 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 | 7 | 128477793 | 128477793 | | | 128477793 | - | | | NM_001458.5(FLNC):c.963C>T (p.Thr321=) | 2318 | FLNC | Likely benign | 749769428 | RCV001395740|RCV002384562; | N | 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:CN230736 | 7 | 128477803 | 128477803 | | | 128477803 | - | | | NM_001458.5(FLNC):c.964G>T (p.Glu322Ter) | 2318 | FLNC | Pathogenic | 1417082178 | RCV001058059; | N | 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 | 7 | 128477804 | 128477804 | | | 7:g.128477804G>T | - | | | NM_001458.5(FLNC):c.964G>A (p.Glu322Lys) | 2318 | FLNC | Uncertain significance | -1 | RCV003078853; | N | 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 | 7 | 128477804 | 128477804 | | | NC_000007.13:g.128477804G>A | - | | | NM_001458.5(FLNC):c.967G>A (p.Glu323Lys) | 2318 | FLNC | Uncertain significance | 1562992158 | RCV000687379|RCV002369836; | N | 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:CN230736 | 7 | 128477807 | 128477807 | | | 7:g.128477807G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.969+4T>G | 2318 | FLNC | Uncertain significance | 953435954 | RCV000539128; | N | 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 | 7 | 128477813 | 128477813 | | | NC_000007.13:g.128477813T>G | ClinGen:CA166214537 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.969+10G>A | 2318 | FLNC | Likely benign | 953416778 | RCV001479283; | N | 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 | 7 | 128477819 | 128477819 | | | 128477819 | - | | | NM_001458.5(FLNC):c.969+12C>T | 2318 | FLNC | Likely benign | -1 | RCV002943671; | N | 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 | 7 | 128477821 | 128477821 | | | NC_000007.13:g.128477821C>T | - | | | NM_001458.5(FLNC):c.969+13C>T | 2318 | FLNC | Likely benign | 774847804 | RCV002098496; | N | 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 | 7 | 128477822 | 128477822 | | | 128477822 | - | | | NM_001458.5(FLNC):c.969+14G>T | 2318 | FLNC | Likely benign | 765545958 | RCV000244419|RCV001702390|RCV002058061; | N | MedGen: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 | 7 | 128477823 | 128477823 | | | NC_000007.13:g.128477823G>T | ClinGen:CA4474178 | CN169374 not specified; | | NM_001458.5(FLNC):c.969+14G>A | 2318 | FLNC | Likely benign | 765545958 | RCV002121228; | N | 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 | 7 | 128477823 | 128477823 | | | 128477823 | - | | | NM_001458.5(FLNC):c.970-20A>G | 2318 | FLNC | Likely benign | 751696900 | RCV002169787; | N | 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 | 7 | 128478021 | 128478021 | | | 128478021 | - | | | NM_001458.5(FLNC):c.970-15T>C | 2318 | FLNC | Likely benign | 751554946 | RCV002106889; | N | 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 | 7 | 128478026 | 128478026 | | | 128478026 | - | | | NM_001458.5(FLNC):c.970-5A>G | 2318 | FLNC | Conflicting interpretations of pathogenicity | 199755800 | RCV000649267|RCV001592808|RCV002369737; | N | 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:CN517202|MedGen:CN230736 | 7 | 128478036 | 128478036 | | | 7:g.128478036A>G | ClinGen:CA4474187 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.970-5A>C | 2318 | FLNC | Uncertain significance | 199755800 | RCV001341716; | N | 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 | 7 | 128478036 | 128478036 | | | 128478036 | - | | | NM_001458.5(FLNC):c.970-4A>G | 2318 | FLNC | Conflicting interpretations of pathogenicity | 532143625 | RCV000497600|RCV000527914|RCV002225107|RCV002298627|RCV002376908|RCV003150244; | N | MedGen: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:C183 | 7 | 128478037 | 128478037 | | | 7:g.128478037A>G | ClinGen:CA4474188 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.970-3T>C | 2318 | FLNC | Uncertain significance | 1250140261 | RCV002017728|RCV002370706; | N | 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:CN230736 | 7 | 128478038 | 128478038 | | | 128478038 | - | | | NM_001458.5(FLNC):c.977T>C (p.Val326Ala) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 570010538 | RCV001349141|RCV001573833; | N | 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 | 7 | 128478048 | 128478048 | | | 128478048 | - | | | NM_001458.5(FLNC):c.978G>A (p.Val326=) | 2318 | FLNC | Likely benign | -1 | RCV002780823; | N | 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 | 7 | 128478049 | 128478049 | | | | - | | | NM_001458.5(FLNC):c.986A>G (p.Asn329Ser) | 2318 | FLNC | Uncertain significance | 536935095 | RCV002000251|RCV002386851; | N | 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 | 7 | 128478057 | 128478057 | | | 128478057 | - | | | NM_001458.5(FLNC):c.987C>A (p.Asn329Lys) | 2318 | FLNC | Uncertain significance | 1808169217 | RCV001314335; | N | 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 | 7 | 128478058 | 128478058 | | | 128478058 | - | | | NM_001458.5(FLNC):c.992A>G (p.Asp331Gly) | 2318 | FLNC | Uncertain significance | 1808169515 | RCV001057665; | N | 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 | 7 | 128478063 | 128478063 | | | 7:g.128478063A>G | - | | | NM_001458.5(FLNC):c.1000C>T (p.Arg334Cys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 372497581 | RCV000805817|RCV001577432|RCV002332645|RCV002501083; | N | 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:CN517202|MedGen:CN230736|MONDO:MONDO:001 | 7 | 128478071 | 128478071 | | | 7:g.128478071C>T | - | | | NM_001458.5(FLNC):c.1000C>A (p.Arg334Ser) | 2318 | FLNC | Likely benign | 372497581 | RCV001943311; | N | 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 | 7 | 128478071 | 128478071 | | | 128478071 | - | | | NM_001458.5(FLNC):c.1001G>A (p.Arg334His) | 2318 | FLNC | Uncertain significance | 779347920 | RCV001216665|RCV002382236|RCV003227887; | N | 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|MedGen:C3661900 | 7 | 128478072 | 128478072 | | | 7:g.128478072G>A | - | | | NM_001458.5(FLNC):c.1003A>C (p.Thr335Pro) | 2318 | FLNC | Uncertain significance | -1 | RCV002301246; | N | MONDO:MONDO: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 | 7 | 128478074 | 128478074 | | | 128478074 | - | | | NM_001458.5(FLNC):c.1007A>G (p.Tyr336Cys) | 2318 | FLNC | Uncertain significance | 748723761 | RCV001246674|RCV003393916; | N | 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| | 7 | 128478078 | 128478078 | | | 7:g.128478078A>G | - | | | NM_001458.5(FLNC):c.1012G>A (p.Val338Ile) | 2318 | FLNC | Uncertain significance | 2128934331 | RCV001870784; | N | 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 | 7 | 128478083 | 128478083 | | | 128478083 | - | | | NM_001458.5(FLNC):c.1019A>G (p.Tyr340Cys) | 2318 | FLNC | Uncertain significance | 1362619480 | RCV001369356|RCV003145636; | N | 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 | 7 | 128478090 | 128478090 | | | 128478090 | - | | | NM_001458.5(FLNC):c.1026C>T (p.Pro342=) | 2318 | FLNC | Likely benign | 200633995 | RCV000839725|RCV001087110|RCV002501169|RCV002381895; | N | 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:171445|MONDO:MONDO:0013550,MedGen:C327 | 7 | 128478097 | 128478097 | | | 7:g.128478097C>T | - | | | NM_001458.5(FLNC):c.1027A>G (p.Lys343Glu) | 2318 | FLNC | Uncertain significance | 745495679 | RCV000813867; | N | 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 | 7 | 128478098 | 128478098 | | | 7:g.128478098A>G | - | | | NM_001458.5(FLNC):c.1027A>T (p.Lys343Ter) | 2318 | FLNC | Pathogenic | 745495679 | RCV001065667; | N | 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 | 7 | 128478098 | 128478098 | | | 7:g.128478098A>T | - | | | NM_001458.5(FLNC):c.1032C>T (p.Val344=) | 2318 | FLNC | Benign | 2291562 | RCV000117063|RCV000711674|RCV001517750|RCV002390260; | N | MedGen: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:CN230736 | 7 | 128478103 | 128478103 | | | 7:g.128478103C>T | ClinGen:CA152826 | CN169374 not specified; | | NM_001458.5(FLNC):c.1035T>C (p.Ala345=) | 2318 | FLNC | Likely benign | 2128934337 | RCV002156362; | N | 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 | 7 | 128478106 | 128478106 | | | 128478106 | - | | | NM_001458.5(FLNC):c.1040T>C (p.Leu347Ser) | 2318 | FLNC | Uncertain significance | 1554397631 | RCV000649145; | N | 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 | 7 | 128478111 | 128478111 | | | 7:g.128478111T>C | ClinGen:CA369223449 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1042C>T (p.His348Tyr) | 2318 | FLNC | Uncertain significance | 2128934341 | RCV002001666; | N | 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 | 7 | 128478113 | 128478113 | | | 128478113 | - | | | NM_001458.5(FLNC):c.1043A>C (p.His348Pro) | 2318 | FLNC | Uncertain significance | -1 | RCV003020667; | N | 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 | 7 | 128478114 | 128478114 | | | NC_000007.13:g.128478114A>C | - | | | NM_001458.5(FLNC):c.1047+1G>T | 2318 | FLNC | Likely pathogenic | 762493013 | RCV001231193; | N | 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 | 7 | 128478119 | 128478119 | | | 7:g.128478119G>T | - | | | NM_001458.5(FLNC):c.1047+1G>A | 2318 | FLNC | Likely pathogenic | 762493013 | RCV001377464; | N | 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 | 7 | 128478119 | 128478119 | | | 128478119 | - | | | NM_001458.5(FLNC):c.1047+3A>G | 2318 | FLNC | Uncertain significance | -1 | RCV003031201; | N | 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 | 7 | 128478121 | 128478121 | | | NC_000007.13:g.128478121A>G | - | | | NM_001458.5(FLNC):c.1047+9C>T | 2318 | FLNC | Likely benign | -1 | RCV002605251; | N | 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 | 7 | 128478127 | 128478127 | | | NC_000007.13:g.128478127C>T | - | | | NM_001458.5(FLNC):c.1047+11C>G | 2318 | FLNC | Likely benign | -1 | RCV002928828; | N | 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 | 7 | 128478129 | 128478129 | | | NC_000007.13:g.128478129C>G | - | | | NM_001458.5(FLNC):c.1047+16C>G | 2318 | FLNC | Likely benign | 961893897 | RCV002078529; | N | 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 | 7 | 128478134 | 128478134 | | | 128478134 | - | | | NM_001458.5(FLNC):c.1047+16C>T | 2318 | FLNC | Likely benign | -1 | RCV003116053; | N | 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 | 7 | 128478134 | 128478134 | | | NC_000007.13:g.128478134C>T | - | | | NM_001458.5(FLNC):c.1047+17C>A | 2318 | FLNC | Likely benign | 1477732116 | RCV002158552; | N | 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 | 7 | 128478135 | 128478135 | | | 128478135 | - | | | NM_001458.5(FLNC):c.1047+17C>T | 2318 | FLNC | Likely benign | 1477732116 | RCV002144712; | N | 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 | 7 | 128478135 | 128478135 | | | 128478135 | - | | | NM_001458.5(FLNC):c.1047+19C>G | 2318 | FLNC | Likely benign | -1 | RCV002615262; | N | 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 | 7 | 128478137 | 128478137 | | | NC_000007.13:g.128478137C>G | - | | | NM_001458.5(FLNC):c.1048-9G>A | 2318 | FLNC | Likely benign | 897884333 | RCV001461810; | N | 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 | 7 | 128478312 | 128478312 | | | 128478312 | - | | | NM_001458.5(FLNC):c.1048-9G>T | 2318 | FLNC | Likely benign | 897884333 | RCV001458821; | N | 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 | 7 | 128478312 | 128478312 | | | 128478312 | - | | | NM_001458.5(FLNC):c.1052C>T (p.Thr351Ile) | 2318 | FLNC | Uncertain significance | 1309343033 | RCV001955338|RCV003146387; | N | 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 | 7 | 128478325 | 128478325 | | | 128478325 | - | | | NM_001458.5(FLNC):c.1053C>T (p.Thr351=) | 2318 | FLNC | Likely benign | 375071103 | RCV000649272|RCV001698458|RCV002413751; | N | 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:C3661900|MedGen:CN230736 | 7 | 128478326 | 128478326 | | | 7:g.128478326C>T | ClinGen:CA4474223 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1054G>A (p.Val352Met) | 2318 | FLNC | Uncertain significance | 773023988 | RCV000649075|RCV002406442|RCV002507113; | N | 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:CN230736|MONDO:MONDO:0014883,MedGen:C431 | 7 | 128478327 | 128478327 | | | NC_000007.13:g.128478327G>A | ClinGen:CA4474224 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1059C>T (p.Leu353=) | 2318 | FLNC | Likely benign | 760418462 | RCV001443050|RCV001597273|RCV002414055; | N | MONDO:MONDO: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:CN230736 | 7 | 128478332 | 128478332 | | | 128478332 | - | | | NM_001458.5(FLNC):c.1059C>G (p.Leu353=) | 2318 | FLNC | Likely benign | 760418462 | RCV001500709|RCV003426160; | N | 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:C3661900 | 7 | 128478332 | 128478332 | | | 128478332 | - | | | NM_001458.5(FLNC):c.1064C>T (p.Ala355Val) | 2318 | FLNC | Uncertain significance | 1231559702 | RCV001999567; | N | 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 | 7 | 128478337 | 128478337 | | | 128478337 | - | | | NM_001458.5(FLNC):c.1066G>A (p.Gly356Ser) | 2318 | FLNC | Uncertain significance | 1808183705 | RCV001210753; | N | 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 | 7 | 128478339 | 128478339 | | | 7:g.128478339G>A | - | | | NM_001458.5(FLNC):c.1069C>T (p.Gln357Ter) | 2318 | FLNC | Pathogenic | 2128934390 | RCV001942297|RCV002407181; | N | 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 | 7 | 128478342 | 128478342 | | | 128478342 | - | | | NM_001458.5(FLNC):c.1073A>G (p.Asn358Ser) | 2318 | FLNC | Likely benign | 766196208 | RCV001044116; | N | 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 | 7 | 128478346 | 128478346 | | | 7:g.128478346A>G | - | | | NM_001458.5(FLNC):c.1074C>T (p.Asn358=) | 2318 | FLNC | Likely benign | 776805988 | RCV001427466|RCV002420961; | N | 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 | 7 | 128478347 | 128478347 | | | 128478347 | - | | | NM_001458.5(FLNC):c.1081C>T (p.Arg361Cys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 200206944 | RCV000509189|RCV000540279|RCV000764683|RCV001528916|RCV002431471|RCV003403197; | N | MONDO: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:75249 | 7 | 128478354 | 128478354 | | | 7:g.128478354C>T | ClinGen:CA4474229 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1082G>A (p.Arg361His) | 2318 | FLNC | Uncertain significance | 752888774 | RCV000416057|RCV000649117|RCV002480273|RCV003298427; | N | 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:0012289,MedGen:C183 | 7 | 128478355 | 128478355 | | | 7:g.128478355G>A | ClinGen:CA4474230 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1087C>A (p.Pro363Thr) | 2318 | FLNC | Uncertain significance | 2128934398 | RCV001916326; | N | 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 | 7 | 128478360 | 128478360 | | | 128478360 | - | | | NM_001458.5(FLNC):c.1089C>T (p.Pro363=) | 2318 | FLNC | Likely benign | 1016218211 | RCV001498730; | N | 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 | 7 | 128478362 | 128478362 | | | 128478362 | - | | | NM_001458.5(FLNC):c.1094A>G (p.Glu365Gly) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 752027721 | RCV000649063|RCV002449072|RCV003144434; | N | 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:CN230736|MedGen:CN517202 | 7 | 128478367 | 128478367 | | | NC_000007.13:g.128478367A>G | ClinGen:CA4474233 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1097T>C (p.Val366Ala) | 2318 | FLNC | Uncertain significance | 1324323411 | RCV001312796|RCV003375207; | N | 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 | 7 | 128478370 | 128478370 | | | 128478370 | - | | | NM_001458.5(FLNC):c.1102G>A (p.Val368Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 781718076 | RCV000552773|RCV000998907|RCV002456209; | N | 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:CN230736 | 7 | 128478375 | 128478375 | | | 7:g.128478375G>A | ClinGen:CA4474235 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1102G>C (p.Val368Leu) | 2318 | FLNC | Uncertain significance | 781718076 | RCV001912568|RCV002458754; | N | 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 | 7 | 128478375 | 128478375 | | | 128478375 | - | | | NM_001458.5(FLNC):c.1106G>C (p.Gly369Ala) | 2318 | FLNC | Uncertain significance | 754733061 | RCV000532764; | N | 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 | 7 | 128478379 | 128478379 | | | 7:g.128478379G>C | ClinGen:CA369223716 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1106G>T (p.Gly369Val) | 2318 | FLNC | Uncertain significance | -1 | RCV002594785; | N | 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 | 7 | 128478379 | 128478379 | | | NC_000007.13:g.128478379G>T | - | | | NM_001458.5(FLNC):c.1108A>G (p.Met370Val) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 370406338 | RCV000694056|RCV002272333|RCV003144524|RCV002458245; | N | 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|EFO:EFO_0000407,Human Phenotype Ontology:HP:000 | 7 | 128478381 | 128478381 | | | NC_000007.13:g.128478381A>G | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1111dup (p.Ala371fs) | 2318 | FLNC | Pathogenic | 2128934407 | RCV001926303; | N | 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 | 7 | 128478382 | 128478383 | | | 128478382 | - | | | NM_001458.5(FLNC):c.1116G>T (p.Leu372=) | 2318 | FLNC | Likely benign | -1 | RCV002851096; | N | 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 | 7 | 128478389 | 128478389 | | | | - | | | NM_001458.5(FLNC):c.1123G>A (p.Ala375Thr) | 2318 | FLNC | Uncertain significance | 747623981 | RCV001230633|RCV002436896; | N | 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:CN230736 | 7 | 128478396 | 128478396 | | | 7:g.128478396G>A | - | | | NM_001458.5(FLNC):c.1128C>A (p.Asn376Lys) | 2318 | FLNC | Likely benign | 773165378 | RCV000649072; | N | 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 | 7 | 128478401 | 128478401 | | | NC_000007.13:g.128478401C>A | ClinGen:CA4474241 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1129A>G (p.Lys377Glu) | 2318 | FLNC | Uncertain significance | 1035933787 | RCV001307593; | N | 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 | 7 | 128478402 | 128478402 | | | 128478402 | - | | | NM_001458.5(FLNC):c.1131G>C (p.Lys377Asn) | 2318 | FLNC | Uncertain significance | 1396483415 | RCV001234393|RCV002221268; | N | 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:C1836050,OMIM:609524 | 7 | 128478404 | 128478404 | | | 7:g.128478404G>C | - | | | NM_001458.5(FLNC):c.1135T>G (p.Ser379Ala) | 2318 | FLNC | Uncertain significance | 746992457 | RCV001316119; | N | 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 | 7 | 128478408 | 128478408 | | | 128478408 | - | | | NM_001458.5(FLNC):c.1136C>G (p.Ser379Ter) | 2318 | FLNC | Pathogenic | -1 | RCV002904659; | N | 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 | 7 | 128478409 | 128478409 | | | NC_000007.13:g.128478409C>G | - | | | NM_001458.5(FLNC):c.1141C>T (p.Arg381Cys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 770692923 | RCV001307478|RCV002456394; | N | 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 | 7 | 128478414 | 128478414 | | | 128478414 | - | | | NM_001458.5(FLNC):c.1141C>G (p.Arg381Gly) | 2318 | FLNC | Uncertain significance | 770692923 | RCV002022708; | N | 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 | 7 | 128478414 | 128478414 | | | 128478414 | - | | | NM_001458.5(FLNC):c.1142G>A (p.Arg381His) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 776469396 | RCV000811056|RCV000998908|RCV002487765|RCV002460109; | N | 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:0012289,MedGen:C183 | 7 | 128478415 | 128478415 | | | 7:g.128478415G>A | - | | | NM_001458.5(FLNC):c.1147C>G (p.Pro383Ala) | 2318 | FLNC | Likely benign | 770615073 | RCV002093427; | N | MONDO:MONDO: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 | 7 | 128478420 | 128478420 | | | 128478420 | - | | | NM_001458.5(FLNC):c.1156G>C (p.Glu386Gln) | 2318 | FLNC | Uncertain significance | 1204536261 | RCV002039527|RCV003346709; | N | MONDO:MONDO: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:CN230736 | 7 | 128478429 | 128478429 | | | 128478429 | - | | | NM_001458.5(FLNC):c.1159C>T (p.Pro387Ser) | 2318 | FLNC | Uncertain significance | -1 | RCV002825131; | N | 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 | 7 | 128478432 | 128478432 | | | NC_000007.13:g.128478432C>T | - | | | NM_001458.5(FLNC):c.1160C>G (p.Pro387Arg) | 2318 | FLNC | Uncertain significance | 765434369 | RCV001915958; | N | 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 | 7 | 128478433 | 128478433 | | | 128478433 | - | | | NM_001458.5(FLNC):c.1161T>G (p.Pro387=) | 2318 | FLNC | Likely benign | -1 | RCV002695320; | N | 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 | 7 | 128478434 | 128478434 | | | | - | | | NM_001458.5(FLNC):c.1162G>C (p.Val388Leu) | 2318 | FLNC | Uncertain significance | 1484540724 | RCV002024681; | N | 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 | 7 | 128478435 | 128478435 | | | 128478435 | - | | | NM_001458.5(FLNC):c.1166dup (p.Asn390fs) | 2318 | FLNC | Pathogenic | -1 | RCV003030870; | N | 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 | 7 | 128478436 | 128478437 | | | NC_000007.13:g.128478439dup | - | | | NM_001458.5(FLNC):c.1166G>A (p.Gly389Asp) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 763039506 | RCV000487193|RCV000649173|RCV003150233|RCV002475928|RCV003401513; | N | 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|Human Phenotype Ontology:HP:000 | 7 | 128478439 | 128478439 | | | 7:g.128478439G>A | ClinGen:CA4474248 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1168A>C (p.Asn390His) | 2318 | FLNC | Uncertain significance | 922960289 | RCV000649161|RCV001756084; | N | 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:CN517202 | 7 | 128478441 | 128478441 | | | NC_000007.13:g.128478441A>C | ClinGen:CA166214934 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1169A>G (p.Asn390Ser) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 188905854 | RCV000649057|RCV002531937; | N | 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|MeSH:D030342,MedGen:C0950123 | 7 | 128478442 | 128478442 | | | 7:g.128478442A>G | ClinGen:CA4474249 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1171G>A (p.Val391Met) | 2318 | FLNC | Uncertain significance | 757887021 | RCV000649138|RCV002331236; | N | 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:CN230736 | 7 | 128478444 | 128478444 | | | NC_000007.13:g.128478444G>A | ClinGen:CA4474251 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1175C>A (p.Ala392Asp) | 2318 | FLNC | Uncertain significance | 1808189981 | RCV002031196|RCV003146495|RCV002551191; | N | 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|MeSH:D030342,MedGen:C0950123 | 7 | 128478448 | 128478448 | | | 128478448 | - | | | NM_001458.5(FLNC):c.1176C>T (p.Ala392=) | 2318 | FLNC | Likely benign | 767977714 | RCV000649247; | N | 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 | 7 | 128478449 | 128478449 | | | 7:g.128478449C>T | ClinGen:CA4474252 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1179C>T (p.Asn393=) | 2318 | FLNC | Likely benign | 547934558 | RCV002191992; | N | 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 | 7 | 128478452 | 128478452 | | | 128478452 | - | | | NM_001458.5(FLNC):c.1182A>G (p.Lys394=) | 2318 | FLNC | Likely benign | 2128934426 | RCV001491968; | N | 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 | 7 | 128478455 | 128478455 | | | 128478455 | - | | | NM_001458.5(FLNC):c.1184C>T (p.Pro395Leu) | 2318 | FLNC | Likely benign | 750881912 | RCV002018235; | N | 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 | 7 | 128478457 | 128478457 | | | 128478457 | - | | | NM_001458.5(FLNC):c.1185C>T (p.Pro395=) | 2318 | FLNC | Likely benign | -1 | RCV003005069; | N | 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 | 7 | 128478458 | 128478458 | | | | - | | | NM_001458.5(FLNC):c.1186A>G (p.Thr396Ala) | 2318 | FLNC | Uncertain significance | 1437029966 | RCV000649128; | N | 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 | 7 | 128478459 | 128478459 | | | 7:g.128478459A>G | ClinGen:CA369224283 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1187C>A (p.Thr396Asn) | 2318 | FLNC | Uncertain significance | 2128934429 | RCV001937706; | N | 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 | 7 | 128478460 | 128478460 | | | 128478460 | - | | | NM_001458.5(FLNC):c.1188C>A (p.Thr396=) | 2318 | FLNC | Likely benign | 1585153728 | RCV001453440; | N | 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 | 7 | 128478461 | 128478461 | | | 7:g.128478461C>A | - | | | NM_001458.5(FLNC):c.1197C>T (p.Asp399=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 756546984 | RCV000342806|RCV001417640; | N | MedGen: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 | 7 | 128478470 | 128478470 | | | 7:g.128478470C>T | ClinGen:CA4474254 | CN169374 not specified; | | NM_001458.5(FLNC):c.1199T>C (p.Ile400Thr) | 2318 | FLNC | Uncertain significance | 1562992604 | RCV000714589|RCV000714588; | N | MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524, Orphanet:171445|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273 | 7 | 128478472 | 128478472 | | | NC_000007.13:g.128478472T>C | - | | | NM_001458.5(FLNC):c.1200C>T (p.Ile400=) | 2318 | FLNC | Benign | 778565971 | RCV001510880; | N | 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 | 7 | 128478473 | 128478473 | | | 128478473 | - | | | NM_001458.5(FLNC):c.1205C>T (p.Thr402Ile) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 374757755 | RCV001057708|RCV002348424|RCV002489652; | N | 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|MONDO:MONDO:0012289,MedGen:C183 | 7 | 128478478 | 128478478 | | | 7:g.128478478C>T | - | | | NM_001458.5(FLNC):c.1205del (p.Thr402fs) | 2318 | FLNC | Pathogenic | 2128934432 | RCV001380250; | N | 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 | 7 | 128478478 | 128478478 | | | 128478477 | - | | | NM_001458.5(FLNC):c.1206T>A (p.Thr402=) | 2318 | FLNC | Likely benign | 757898362 | RCV000649168|RCV003362879; | N | 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 | 7 | 128478479 | 128478479 | | | 7:g.128478479T>A | ClinGen:CA457846450 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1206T>G (p.Thr402=) | 2318 | FLNC | Likely benign | 757898362 | RCV002156451; | N | 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 | 7 | 128478479 | 128478479 | | | 128478479 | - | | | NM_001458.5(FLNC):c.1208C>A (p.Ala403Glu) | 2318 | FLNC | Uncertain significance | 777199447 | RCV001300302|RCV003346437; | N | 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:CN230736 | 7 | 128478481 | 128478481 | | | 128478481 | - | | | NM_001458.5(FLNC):c.1208C>T (p.Ala403Val) | 2318 | FLNC | Uncertain significance | 777199447 | RCV001926708|RCV002344063|RCV003146367; | N | 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|MedGen:C3661900 | 7 | 128478481 | 128478481 | | | 128478481 | - | | | NM_001458.5(FLNC):c.1209G>A (p.Ala403=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 746938160 | RCV001349359|RCV002357201; | N | 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:CN230736 | 7 | 128478482 | 128478482 | | | 128478482 | - | | | NM_001458.5(FLNC):c.1210+4G>A | 2318 | FLNC | Uncertain significance | 2128934436 | RCV001929206; | N | 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 | 7 | 128478487 | 128478487 | | | 128478487 | - | | | NM_001458.5(FLNC):c.1210+5G>A | 2318 | FLNC | Uncertain significance | 770923888 | RCV001248329|RCV002357054|RCV002473243; | N | 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:CN230736|MedGen:CN517202 | 7 | 128478488 | 128478488 | | | 7:g.128478488G>A | - | | | NM_001458.5(FLNC):c.1210+7C>T | 2318 | FLNC | Likely benign | 776554557 | RCV001500514; | N | 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 | 7 | 128478490 | 128478490 | | | 7:g.128478490C>T | ClinGen:CA4474261 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1210+8G>A | 2318 | FLNC | Likely benign | 368892134 | RCV000649194; | N | 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 | 7 | 128478491 | 128478491 | | | NC_000007.13:g.128478491G>A | ClinGen:CA4474262 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1210+10G>T | 2318 | FLNC | Likely benign | 562941732 | RCV000927506; | N | 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 | 7 | 128478493 | 128478493 | | | 7:g.128478493G>T | - | | | NM_001458.5(FLNC):c.1210+13C>T | 2318 | FLNC | Likely benign | 775741829 | RCV002137555; | N | 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 | 7 | 128478496 | 128478496 | | | 128478496 | - | | | NM_001458.5(FLNC):c.1210+15A>G | 2318 | FLNC | Likely benign | 763122529 | RCV002109592; | N | 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 | 7 | 128478498 | 128478498 | | | 128478498 | - | | | NM_001458.5(FLNC):c.1210+16G>A | 2318 | FLNC | Likely benign | -1 | RCV002640667; | N | 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 | 7 | 128478499 | 128478499 | | | NC_000007.13:g.128478499G>A | - | | | NM_001458.5(FLNC):c.1210+19G>C | 2318 | FLNC | Likely benign | 1174673304 | RCV002131306; | N | MONDO:MONDO: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 | 7 | 128478502 | 128478502 | | | 128478502 | - | | | NM_001458.5(FLNC):c.1211-18A>C | 2318 | FLNC | Likely benign | 781059433 | RCV002119083; | N | 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 | 7 | 128478639 | 128478639 | | | 128478639 | - | | | NM_001458.5(FLNC):c.1211-11G>C | 2318 | FLNC | Likely benign | 2128934481 | RCV002076239; | N | 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 | 7 | 128478646 | 128478646 | | | 128478646 | - | | | NM_001458.5(FLNC):c.1211-6C>T | 2318 | FLNC | Likely benign | 745834917 | RCV000649273|RCV001592809; | N | 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:CN517202 | 7 | 128478651 | 128478651 | | | 7:g.128478651C>T | ClinGen:CA4474279 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1211-5G>A | 2318 | FLNC | Uncertain significance | 769599454 | RCV001040758; | N | 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 | 7 | 128478652 | 128478652 | | | 7:g.128478652G>A | - | | | NM_001458.5(FLNC):c.1211-4G>T | 2318 | FLNC | Uncertain significance | 779760488 | RCV002037317; | N | 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 | 7 | 128478653 | 128478653 | | | 128478653 | - | | | NM_001458.5(FLNC):c.1215C>T (p.Ala405=) | 2318 | FLNC | Likely benign | 749510534 | RCV000649225|RCV001584493|RCV002358863; | N | 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:C3661900|MedGen:CN230736 | 7 | 128478661 | 128478661 | | | NC_000007.13:g.128478661C>T | ClinGen:CA4474282 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1216G>A (p.Gly406Ser) | 2318 | FLNC | Uncertain significance | 1343684536 | RCV000553124|RCV000624554|RCV002223135|RCV002358567; | N | 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|MeSH:D030342,MedGen:C0950123|MONDO:MONDO:001488 | 7 | 128478662 | 128478662 | | | 7:g.128478662G>A | ClinGen:CA369224361 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1222G>A (p.Gly408Ser) | 2318 | FLNC | Uncertain significance | 2128934484 | RCV001906052; | N | 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 | 7 | 128478668 | 128478668 | | | 128478668 | - | | | NM_001458.5(FLNC):c.1224C>T (p.Gly408=) | 2318 | FLNC | Likely benign | 1412295566 | RCV001908459; | N | 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 | 7 | 128478670 | 128478670 | | | 128478670 | - | | | NM_001458.5(FLNC):c.1225G>A (p.Asp409Asn) | 2318 | FLNC | Uncertain significance | 371913931 | RCV000816191|RCV001585752|RCV002363131|RCV002487799; | N | 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:CN517202|MedGen:CN230736|MONDO:MONDO:001 | 7 | 128478671 | 128478671 | | | 7:g.128478671G>A | - | | | NM_001458.5(FLNC):c.1227T>C (p.Asp409=) | 2318 | FLNC | Likely benign | 375033262 | RCV000529111|RCV002367913; | N | 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:CN230736 | 7 | 128478673 | 128478673 | | | NC_000007.13:g.128478673T>C | ClinGen:CA166215176 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1228G>C (p.Val410Leu) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 993836469 | RCV000822173|RCV002363168; | N | 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 | 7 | 128478674 | 128478674 | | | 7:g.128478674G>C | - | | | NM_001458.5(FLNC):c.1233T>C (p.Ala411=) | 2318 | FLNC | Likely benign | 1035589817 | RCV002198425; | N | 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 | 7 | 128478679 | 128478679 | | | 128478679 | - | | | NM_001458.5(FLNC):c.1239G>A (p.Val413=) | 2318 | FLNC | Likely benign | 774716505 | RCV002177608|RCV002372849; | N | 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:CN230736 | 7 | 128478685 | 128478685 | | | 128478685 | - | | | NM_001458.5(FLNC):c.1242C>T (p.Ile414=) | 2318 | FLNC | Likely benign | 761922411 | RCV000546708|RCV001696952|RCV002384208|RCV003330785; | N | 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:CN230736|MedGen:CN169374 | 7 | 128478688 | 128478688 | | | NC_000007.13:g.128478688C>T | ClinGen:CA4474285 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1242C>G (p.Ile414Met) | 2318 | FLNC | Uncertain significance | -1 | RCV002380368|RCV003103393; | N | MedGen: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:CN239310 | 7 | 128478688 | 128478688 | | | 128478688 | - | | | NM_001458.5(FLNC):c.1243G>A (p.Val415Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 369182765 | RCV000702072|RCV002386251|RCV003144557; | N | 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:CN230736|MedGen:CN517202 | 7 | 128478689 | 128478689 | | | NC_000007.13:g.128478689G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1246G>A (p.Asp416Asn) | 2318 | FLNC | Uncertain significance | -1 | RCV002838823; | N | 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 | 7 | 128478692 | 128478692 | | | NC_000007.13:g.128478692G>A | - | | | NM_001458.5(FLNC):c.1255G>A (p.Gly419Ser) | 2318 | FLNC | Uncertain significance | -1 | RCV002647668; | N | 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 | 7 | 128478701 | 128478701 | | | NC_000007.13:g.128478701G>A | - | | | NM_001458.5(FLNC):c.1258C>T (p.Arg420Trp) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 766755439 | RCV001050080|RCV002429642; | N | 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|MedGen:CN230736 | 7 | 128478704 | 128478704 | | | 7:g.128478704C>T | - | | | NM_001458.5(FLNC):c.1258C>G (p.Arg420Gly) | 2318 | FLNC | Uncertain significance | -1 | RCV002756063; | N | 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 | 7 | 128478704 | 128478704 | | | NC_000007.13:g.128478704C>G | - | | | NM_001458.5(FLNC):c.1259G>A (p.Arg420Gln) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 371410741 | RCV000649069|RCV002406441|RCV002477439; | N | 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:CN230736|MONDO:MONDO:0014883,MedGen:C431 | 7 | 128478705 | 128478705 | | | NC_000007.13:g.128478705G>A | ClinGen:CA4474290 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1260del (p.Arg421fs) | 2318 | FLNC | Pathogenic | 2128934500 | RCV001994548; | N | 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 | 7 | 128478705 | 128478705 | | | 128478704 | - | | | NM_001458.5(FLNC):c.1260G>A (p.Arg420=) | 2318 | FLNC | Likely benign | 759951101 | RCV000877045|RCV002434161; | N | 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:CN230736 | 7 | 128478706 | 128478706 | | | 7:g.128478706G>A | - | | | NM_001458.5(FLNC):c.1261C>T (p.Arg421Trp) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 759075520 | RCV000554572|RCV001755874|RCV002491076|RCV002448759; | N | 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:CN517202|MONDO:MONDO:0012289,MedGen:C183 | 7 | 128478707 | 128478707 | | | NC_000007.13:g.128478707C>T | ClinGen:CA4474292 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1262G>A (p.Arg421Gln) | 2318 | FLNC | Likely benign | 751236317 | RCV001051035; | N | 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 | 7 | 128478708 | 128478708 | | | 7:g.128478708G>A | - | | | NM_001458.5(FLNC):c.1269A>C (p.Thr423=) | 2318 | FLNC | Likely benign | 1808205111 | RCV002134431; | N | MONDO:MONDO: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 | 7 | 128478715 | 128478715 | | | 128478715 | - | | | NM_001458.5(FLNC):c.1272G>A (p.Val424=) | 2318 | FLNC | Likely benign | -1 | RCV002861248; | N | 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 | 7 | 128478718 | 128478718 | | | | - | | | NM_001458.5(FLNC):c.1281C>T (p.Ala427=) | 2318 | FLNC | Likely benign | 1055109116 | RCV001481946|RCV002382103; | N | 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:CN230736 | 7 | 128478727 | 128478727 | | | 7:g.128478727C>T | - | | | NM_001458.5(FLNC):c.1282C>G (p.Leu428Val) | 2318 | FLNC | Uncertain significance | 1585154042 | RCV000822370|RCV001759617; | N | 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:CN517202 | 7 | 128478728 | 128478728 | | | 7:g.128478728C>G | - | | | NM_001458.5(FLNC):c.1286A>C (p.Glu429Ala) | 2318 | FLNC | Uncertain significance | 1031308521 | RCV002030583; | N | 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 | 7 | 128478732 | 128478732 | | | 128478732 | - | | | NM_001458.5(FLNC):c.1293G>A (p.Lys431=) | 2318 | FLNC | Likely benign | 1808206047 | RCV002151075|RCV002382435; | N | 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 | 7 | 128478739 | 128478739 | | | 128478739 | - | | | NM_001458.5(FLNC):c.1295G>T (p.Gly432Val) | 2318 | FLNC | Uncertain significance | 750350780 | RCV000810486; | N | 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 | 7 | 128478741 | 128478741 | | | 7:g.128478741G>T | - | | | NM_001458.5(FLNC):c.1301G>A (p.Ser434Asn) | 2318 | FLNC | Uncertain significance | 1585154054 | RCV001227134; | N | 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 | 7 | 128478747 | 128478747 | | | 7:g.128478747G>A | - | | | NM_001458.5(FLNC):c.1303A>G (p.Thr435Ala) | 2318 | FLNC | Uncertain significance | 1808206478 | RCV001209174; | N | 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 | 7 | 128478749 | 128478749 | | | 7:g.128478749A>G | - | | | NM_001458.5(FLNC):c.1304C>T (p.Thr435Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 199935488 | RCV000530599|RCV002384209; | N | 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 | 7 | 128478750 | 128478750 | | | 7:g.128478750C>T | ClinGen:CA4474297 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1305G>A (p.Thr435=) | 2318 | FLNC | Likely benign | 779890960 | RCV000963551|RCV002382187; | N | 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 | 7 | 128478751 | 128478751 | | | 7:g.128478751G>A | - | | | NM_001458.5(FLNC):c.1309C>T (p.Arg437Cys) | 2318 | FLNC | Uncertain significance | 374847180 | RCV000688149|RCV001592871|RCV002272329|RCV002386175|RCV003411601; | N | 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|MONDO:MONDO:0014883,MedGen:C431 | 7 | 128478755 | 128478755 | | | 7:g.128478755C>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1309C>G (p.Arg437Gly) | 2318 | FLNC | Uncertain significance | 374847180 | RCV000823305|RCV003307561; | N | 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 | 7 | 128478755 | 128478755 | | | 7:g.128478755C>G | - | | | NM_001458.5(FLNC):c.1310G>T (p.Arg437Leu) | 2318 | FLNC | Likely benign | 370138936 | RCV000543069; | N | 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 | 7 | 128478756 | 128478756 | | | 7:g.128478756G>T | ClinGen:CA4474301 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1310G>A (p.Arg437His) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 370138936 | RCV001044617|RCV002379520; | N | 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 | 7 | 128478756 | 128478756 | | | 7:g.128478756G>A | - | | | NM_001458.5(FLNC):c.1311C>T (p.Arg437=) | 2318 | FLNC | Likely benign | 2128934522 | RCV001403487; | N | 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 | 7 | 128478757 | 128478757 | | | 128478757 | - | | | NM_001458.5(FLNC):c.1315_1328del (p.Thr439fs) | 2318 | FLNC | Pathogenic | -1 | RCV002881923; | N | 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 | 7 | 128478757 | 128478770 | | | NC_000007.13:g.128478761_128478774del | - | | | NM_001458.5(FLNC):c.1325C>A (p.Pro442His) | 2318 | FLNC | Uncertain significance | 1554397822 | RCV001888653; | N | 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:614065, Orphanet:63273 | 7 | 128478771 | 128478771 | | | 128478771 | - | | | NM_001458.5(FLNC):c.1328C>T (p.Ala443Val) | 2318 | FLNC | Uncertain significance | 1808207788 | RCV001046547|RCV002489593; | N | 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|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065 | 7 | 128478774 | 128478774 | | | 7:g.128478774C>T | - | | | NM_001458.5(FLNC):c.1332G>A (p.Met444Ile) | 2318 | FLNC | Uncertain significance | 1343786191 | RCV001350577; | N | 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 | 7 | 128478778 | 128478778 | | | 128478778 | - | | | NM_001458.5(FLNC):c.1338G>A (p.Gly446=) | 2318 | FLNC | Likely benign | 2128934526 | RCV002208335; | N | 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 | 7 | 128478784 | 128478784 | | | 128478784 | - | | | NM_001458.5(FLNC):c.1341A>G (p.Pro447=) | 2318 | FLNC | Likely benign | 2128934528 | RCV001432488; | N | 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 | 7 | 128478787 | 128478787 | | | 128478787 | - | | | NM_001458.5(FLNC):c.1347C>T (p.Thr449=) | 2318 | FLNC | Likely benign | 776162830 | RCV000915466|RCV001664548|RCV002382076; | N | 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:CN517202|MedGen:CN230736 | 7 | 128478793 | 128478793 | | | 7:g.128478793C>T | - | | | NM_001458.5(FLNC):c.1348G>A (p.Val450Met) | 2318 | FLNC | Likely benign | 747550431 | RCV000559462|RCV002384210; | N | 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 | 7 | 128478794 | 128478794 | | | NC_000007.13:g.128478794G>A | ClinGen:CA4474305 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1349T>C (p.Val450Ala) | 2318 | FLNC | Uncertain significance | -1 | RCV002295965; | N | MONDO:MONDO: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 | 7 | 128478795 | 128478795 | | | 128478795 | - | | | NM_001458.5(FLNC):c.1350G>T (p.Val450=) | 2318 | FLNC | Likely benign | 2128934535 | RCV002177994; | N | 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 | 7 | 128478796 | 128478796 | | | 128478796 | - | | | NM_001458.5(FLNC):c.1351C>T (p.His451Tyr) | 2318 | FLNC | Uncertain significance | -1 | RCV002695228; | N | 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 | 7 | 128478797 | 128478797 | | | NC_000007.13:g.128478797C>T | - | | | NM_001458.5(FLNC):c.1352A>C (p.His451Pro) | 2318 | FLNC | Uncertain significance | 1808209347 | RCV001915452; | N | 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 | 7 | 128478798 | 128478798 | | | 128478798 | - | | | NM_001458.5(FLNC):c.1353T>C (p.His451=) | 2318 | FLNC | Likely benign | 1181457724 | RCV002141860; | N | 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 | 7 | 128478799 | 128478799 | | | 128478799 | - | | | NM_001458.5(FLNC):c.1354G>A (p.Val452Met) | 2318 | FLNC | Benign/Likely benign | 192163925 | RCV000535494|RCV002384211|RCV001557601; | N | 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:C3661900 | 7 | 128478800 | 128478800 | | | NC_000007.13:g.128478800G>A | ClinGen:CA4474306 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1364C>T (p.Ala455Val) | 2318 | FLNC | Uncertain significance | 777210524 | RCV000560364|RCV003144345; | N | 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:CN517202 | 7 | 128478810 | 128478810 | | | NC_000007.13:g.128478810C>T | ClinGen:CA4474307 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1365G>A (p.Ala455=) | 2318 | FLNC | Benign | 377345122 | RCV003093251; | N | 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 | 7 | 128478811 | 128478811 | | | NC_000007.13:g.128478811G>A | - | | | NM_001458.5(FLNC):c.1367G>T (p.Gly456Val) | 2318 | FLNC | Uncertain significance | 765622614 | RCV002050485|RCV002469451; | N | MONDO:MONDO: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 | 7 | 128478813 | 128478813 | | | 128478813 | - | | | NM_001458.5(FLNC):c.1372C>T (p.Pro458Ser) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 369747694 | RCV000707525|RCV002386278|RCV003144574; | N | 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|MedGen:C3661900 | 7 | 128478818 | 128478818 | | | NC_000007.13:g.128478818C>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1372C>A (p.Pro458Thr) | 2318 | FLNC | Uncertain significance | 369747694 | RCV002028257; | N | 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 | 7 | 128478818 | 128478818 | | | 128478818 | - | | | NM_001458.5(FLNC):c.1373C>G (p.Pro458Arg) | 2318 | FLNC | Uncertain significance | 1808210779 | RCV001038835|RCV003145263; | N | 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|MedGen:CN517202 | 7 | 128478819 | 128478819 | | | 7:g.128478819C>G | - | | | NM_001458.5(FLNC):c.1374C>T (p.Pro458=) | 2318 | FLNC | Benign | 115140972 | RCV000117064|RCV000543411|RCV001729391|RCV002381426; | N | MedGen: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:CN230736 | 7 | 128478820 | 128478820 | | | 7:g.128478820C>T | ClinGen:CA152829 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1381C>T (p.Arg461Cys) | 2318 | FLNC | Likely benign | 766999669 | RCV001215837; | N | 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 | 7 | 128478827 | 128478827 | | | 7:g.128478827C>T | - | | | NM_001458.5(FLNC):c.1382G>T (p.Arg461Leu) | 2318 | FLNC | Uncertain significance | 377587489 | RCV001049454|RCV003363077; | N | 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 | 7 | 128478828 | 128478828 | | | 7:g.128478828G>T | - | | | NM_001458.5(FLNC):c.1382G>A (p.Arg461His) | 2318 | FLNC | Uncertain significance | 377587489 | RCV001305133|RCV003145539; | N | 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:CN517202 | 7 | 128478828 | 128478828 | | | 128478828 | - | | | NM_001458.5(FLNC):c.1383C>T (p.Arg461=) | 2318 | FLNC | Likely benign | 1562992883 | RCV002102136; | N | 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 | 7 | 128478829 | 128478829 | | | 128478829 | - | | | NM_001458.5(FLNC):c.1392C>T (p.Phe464=) | 2318 | FLNC | Likely benign | 910678755 | RCV000536975|RCV002395434; | N | 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:CN230736 | 7 | 128478838 | 128478838 | | | NC_000007.13:g.128478838C>T | ClinGen:CA166215257 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1398C>T (p.Val466=) | 2318 | FLNC | Likely benign | 942095368 | RCV000923686|RCV001580555; | N | 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:614065, Orphanet:63273|MedGen:CN517202 | 7 | 128478844 | 128478844 | | | 7:g.128478844C>T | - | | | NM_001458.5(FLNC):c.1406C>T (p.Ser469Leu) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1279257124 | RCV001224233|RCV002393547; | N | 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:CN230736 | 7 | 128478852 | 128478852 | | | 7:g.128478852C>T | - | | | NM_001458.5(FLNC):c.1407G>A (p.Ser469=) | 2318 | FLNC | Uncertain significance | 766168758 | RCV001312949; | N | 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 | 7 | 128478853 | 128478853 | | | 128478853 | - | | | NM_001458.5(FLNC):c.1411G>A (p.Ala471Thr) | 2318 | FLNC | Uncertain significance | -1 | RCV002971577; | N | 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 | 7 | 128478857 | 128478857 | | | NC_000007.13:g.128478857G>A | - | | | NM_001458.5(FLNC):c.1411+1G>T | 2318 | FLNC | Likely pathogenic | 2128934545 | RCV001975564; | N | 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 | 7 | 128478858 | 128478858 | | | 128478858 | - | | | NM_001458.5(FLNC):c.1411+9C>G | 2318 | FLNC | Likely benign | -1 | RCV003082678; | N | 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 | 7 | 128478866 | 128478866 | | | NC_000007.13:g.128478866C>G | - | | | NM_001458.5(FLNC):c.1411+9C>T | 2318 | FLNC | Likely benign | -1 | RCV003063759; | N | 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 | 7 | 128478866 | 128478866 | | | NC_000007.13:g.128478866C>T | - | | | NM_001458.5(FLNC):c.1411+10C>G | 2318 | FLNC | Likely benign | 2128934548 | RCV001417612; | N | 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 | 7 | 128478867 | 128478867 | | | 128478867 | - | | | NM_001458.5(FLNC):c.1411+17G>T | 2318 | FLNC | Likely benign | 954461668 | RCV002190470; | N | 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 | 7 | 128478874 | 128478874 | | | 128478874 | - | | | NM_001458.5(FLNC):c.1411+17G>C | 2318 | FLNC | Likely benign | -1 | RCV002706765; | N | 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 | 7 | 128478874 | 128478874 | | | NC_000007.13:g.128478874G>C | - | | | NM_001458.5(FLNC):c.1411+20C>G | 2318 | FLNC | Likely benign | 1434883225 | RCV002197745; | N | 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 | 7 | 128478877 | 128478877 | | | 128478877 | - | | | NM_001458.5(FLNC):c.1412-10C>T | 2318 | FLNC | Likely benign | 371509764 | RCV001402903; | N | 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 | 7 | 128480067 | 128480067 | | | 7:g.128480067C>T | - | | | NM_001458.5(FLNC):c.1412-8T>G | 2318 | FLNC | Likely benign | 1585155030 | RCV001462258; | N | 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 | 7 | 128480069 | 128480069 | | | 128480069 | - | | | NM_001458.5(FLNC):c.1412-6C>T | 2318 | FLNC | Likely benign | 753700851 | RCV000876317|RCV001506616; | N | MedGen: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 | 7 | 128480071 | 128480071 | | | 7:g.128480071C>T | - | | | NM_001458.5(FLNC):c.1412-5C>T | 2318 | FLNC | Conflicting interpretations of pathogenicity | 765122668 | RCV001405476|RCV002390840; | N | 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 | 7 | 128480072 | 128480072 | | | 7:g.128480072C>T | - | | | NM_001458.5(FLNC):c.1412-4C>G | 2318 | FLNC | Likely benign | -1 | RCV002602526; | N | 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 | 7 | 128480073 | 128480073 | | | NC_000007.13:g.128480073C>G | - | | | NM_001458.5(FLNC):c.1412-3del | 2318 | FLNC | Uncertain significance | 765490580 | RCV001222908; | N | 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 | 7 | 128480074 | 128480074 | | | 7:g.128480074_128480074del | - | | | NM_001458.5(FLNC):c.1418A>G (p.Asn473Ser) | 2318 | FLNC | Uncertain significance | 747289343 | RCV002017195|RCV003170530; | N | 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:CN230736 | 7 | 128480083 | 128480083 | | | 128480083 | - | | | NM_001458.5(FLNC):c.1420C>T (p.Pro474Ser) | 2318 | FLNC | Uncertain significance | 1562993431 | RCV000691550; | N | 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 | 7 | 128480085 | 128480085 | | | NC_000007.13:g.128480085C>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1425C>T (p.Asn475=) | 2318 | FLNC | Benign | 143610360 | RCV000321182|RCV000711675|RCV001082559|RCV002392818; | N | MedGen: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:CN230736 | 7 | 128480090 | 128480090 | | | 7:g.128480090C>T | ClinGen:CA4474342 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1426G>T (p.Ala476Ser) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 746359389 | RCV000549824|RCV002395436; | N | 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:CN230736 | 7 | 128480091 | 128480091 | | | NC_000007.13:g.128480091G>T | ClinGen:CA4474343 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1428C>T (p.Ala476=) | 2318 | FLNC | Likely benign | 1585155086 | RCV001444917; | N | 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 | 7 | 128480093 | 128480093 | | | 7:g.128480093C>T | - | | | NM_001458.5(FLNC):c.1430G>C (p.Cys477Ser) | 2318 | FLNC | Likely benign | 560530105 | RCV000525798; | N | 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 | 7 | 128480095 | 128480095 | | | 7:g.128480095G>C | ClinGen:CA4474344 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1432C>T (p.Arg478Cys) | 2318 | FLNC | Likely benign | 780542423 | RCV001222987; | N | 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 | 7 | 128480097 | 128480097 | | | 7:g.128480097C>T | - | | | NM_001458.5(FLNC):c.1433G>A (p.Arg478His) | 2318 | FLNC | Uncertain significance | 749593461 | RCV000706942|RCV002388348; | N | 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:CN230736 | 7 | 128480098 | 128480098 | | | NC_000007.13:g.128480098G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1433G>C (p.Arg478Pro) | 2318 | FLNC | Uncertain significance | -1 | RCV003006507; | N | 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 | 7 | 128480098 | 128480098 | | | NC_000007.13:g.128480098G>C | - | | | NM_001458.5(FLNC):c.1434C>T (p.Arg478=) | 2318 | FLNC | Likely benign | 201810745 | RCV000420726|RCV000537907|RCV001724000|RCV002393042; | N | MedGen: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:CN230736 | 7 | 128480099 | 128480099 | | | 7:g.128480099C>T | ClinGen:CA4474347 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1435G>A (p.Ala479Thr) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 772697482 | RCV000649122|RCV003343976; | N | 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 | 7 | 128480100 | 128480100 | | | NC_000007.13:g.128480100G>A | ClinGen:CA4474348 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1437C>T (p.Ala479=) | 2318 | FLNC | Likely benign | 760412891 | RCV001444384|RCV002396027; | N | MONDO:MONDO: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:CN230736 | 7 | 128480102 | 128480102 | | | 128480102 | - | | | NM_001458.5(FLNC):c.1444C>T (p.Arg482Ter) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1420159591 | RCV000615997|RCV000701881|RCV002272301; | N | MedGen: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:C431 | 7 | 128480109 | 128480109 | | | NC_000007.13:g.128480109C>T | ClinGen:CA369225516 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1445G>A (p.Arg482Gln) | 2318 | FLNC | Uncertain significance | 770337434 | RCV000538236|RCV002530187|RCV003231646; | N | 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|MeSH:D030342,MedGen:C0950123|MedGen:CN517202 | 7 | 128480110 | 128480110 | | | 7:g.128480110G>A | ClinGen:CA4474350 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1448G>A (p.Gly483Asp) | 2318 | FLNC | Uncertain significance | 1562993476 | RCV000700527|RCV003163253; | N | 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:CN230736 | 7 | 128480113 | 128480113 | | | NC_000007.13:g.128480113G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1449C>G (p.Gly483=) | 2318 | FLNC | Likely benign | -1 | RCV002852169; | N | 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 | 7 | 128480114 | 128480114 | | | | - | | | NM_001458.5(FLNC):c.1454A>G (p.Gln485Arg) | 2318 | FLNC | Uncertain significance | 1012536919 | RCV000555808; | N | 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 | 7 | 128480119 | 128480119 | | | 7:g.128480119A>G | ClinGen:CA166216071 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1458C>A (p.Pro486=) | 2318 | FLNC | Benign | 2291563 | RCV000117065|RCV000711676|RCV001511957|RCV002390261; | N | MedGen: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:CN230736 | 7 | 128480123 | 128480123 | | | 7:g.128480123C>A | ClinGen:CA152832 | CN169374 not specified; | | NM_001458.5(FLNC):c.1463del (p.Gly488fs) | 2318 | FLNC | Pathogenic | 2128934867 | RCV001900236; | N | 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 | 7 | 128480126 | 128480126 | | | 128480125 | - | | | NM_001458.5(FLNC):c.1468C>T (p.Arg490Cys) | 2318 | FLNC | Uncertain significance | 1422233407 | RCV001990880|RCV002221295|RCV002388974|RCV003150474; | N | 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|EFO:EFO_0000407,Human Phenotype Ontology:HP:000 | 7 | 128480133 | 128480133 | | | 128480133 | - | | | NM_001458.5(FLNC):c.1469G>A (p.Arg490His) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1046320257 | RCV000699919|RCV001585645|RCV002388302; | N | 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:CN517202|MedGen:CN230736 | 7 | 128480134 | 128480134 | | | 7:g.128480134G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1469G>T (p.Arg490Leu) | 2318 | FLNC | Uncertain significance | 1046320257 | RCV001038909; | N | 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 | 7 | 128480134 | 128480134 | | | 7:g.128480134G>T | - | | | NM_001458.5(FLNC):c.1470C>A (p.Arg490=) | 2318 | FLNC | Likely benign | 765212618 | RCV001437265|RCV002390976; | N | 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 | 7 | 128480135 | 128480135 | | | 7:g.128480135C>A | - | | | NM_001458.5(FLNC):c.1470C>T (p.Arg490=) | 2318 | FLNC | Likely benign | 765212618 | RCV002088118|RCV003150480|RCV002391215; | N | 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|Human Phenotype Ontology:HP:0001638,MONDO:MONDO | 7 | 128480135 | 128480135 | | | 128480135 | - | | | NM_001458.5(FLNC):c.1471G>C (p.Val491Leu) | 2318 | FLNC | Uncertain significance | 770264114 | RCV000213534|RCV001036640; | N | MedGen: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 | 7 | 128480136 | 128480136 | | | NC_000007.13:g.128480136G>C | ClinGen:CA10576718 | CN169374 not specified; | | NM_001458.5(FLNC):c.1471G>A (p.Val491Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 770264114 | RCV000689009|RCV001569945|RCV002388218|RCV002477542; | N | 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:CN517202|MedGen:CN230736|MONDO:MONDO:001 | 7 | 128480136 | 128480136 | | | NC_000007.13:g.128480136G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1474A>G (p.Lys492Glu) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 118056738 | RCV000527260|RCV002395437|RCV003144346|RCV003150271; | N | 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|MedGen:C3661900|Human Phenotype | 7 | 128480139 | 128480139 | | | 7:g.128480139A>G | ClinGen:CA4474355 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1484C>G (p.Ala495Gly) | 2318 | FLNC | Uncertain significance | -1 | RCV002933602; | N | 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 | 7 | 128480149 | 128480149 | | | NC_000007.13:g.128480149C>G | - | | | NM_001458.5(FLNC):c.1485T>C (p.Ala495=) | 2318 | FLNC | Likely benign | -1 | RCV003089754|RCV003161762; | N | 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 | 7 | 128480150 | 128480150 | | | | - | | | NM_001458.5(FLNC):c.1491C>T (p.Phe497=) | 2318 | FLNC | Likely benign | 1199428558 | RCV001404662|RCV002390952; | N | 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 | 7 | 128480156 | 128480156 | | | 7:g.128480156C>T | - | | | NM_001458.5(FLNC):c.1492A>G (p.Lys498Glu) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 781127889 | RCV000817733|RCV003145195; | N | 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:CN517202 | 7 | 128480157 | 128480157 | | | 7:g.128480157A>G | - | | | NM_001458.5(FLNC):c.1499T>C (p.Phe500Ser) | 2318 | FLNC | Uncertain significance | 2128934879 | RCV002025785|RCV003303623; | N | 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:CN230736 | 7 | 128480164 | 128480164 | | | 128480164 | - | | | NM_001458.5(FLNC):c.1502C>T (p.Thr501Ile) | 2318 | FLNC | Uncertain significance | 794727967 | RCV000180571|RCV001852253|RCV003278680; | N | MedGen: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:CN230736 | 7 | 128480167 | 128480167 | | | 7:g.128480167C>T | ClinGen:CA248062 | CN169374 not specified; | | NM_001458.5(FLNC):c.1503_1504dup (p.Lys502fs) | 2318 | FLNC | Pathogenic | 2128934883 | RCV001989956; | N | 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 | 7 | 128480167 | 128480168 | | | 128480167 | - | | | NM_001458.5(FLNC):c.1503C>T (p.Thr501=) | 2318 | FLNC | Likely benign | -1 | RCV002780262; | N | 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 | 7 | 128480168 | 128480168 | | | | - | | | NM_001458.5(FLNC):c.1505A>T (p.Lys502Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 780486915 | RCV000731114|RCV000808233; | N | MedGen: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 | 7 | 128480170 | 128480170 | | | NC_000007.13:g.128480170A>T | - | | | NM_001458.5(FLNC):c.1506G>A (p.Lys502=) | 2318 | FLNC | Uncertain significance | 749823564 | RCV001985397; | N | 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 | 7 | 128480171 | 128480171 | | | 128480171 | - | | | NM_001458.5(FLNC):c.1508G>A (p.Gly503Asp) | 2318 | FLNC | Uncertain significance | 1483134760 | RCV000788851|RCV001873218; | N | MedGen: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 | 7 | 128480173 | 128480173 | | | 7:g.128480173G>A | - | | | NM_001458.5(FLNC):c.1510G>A (p.Ala504Thr) | 2318 | FLNC | Uncertain significance | 1562993551 | RCV000705608; | N | 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 | 7 | 128480175 | 128480175 | | | NC_000007.13:g.128480175G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1512C>T (p.Ala504=) | 2318 | FLNC | Likely benign | -1 | RCV002392242|RCV003100697; | N | MedGen: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:CN239310 | 7 | 128480177 | 128480177 | | | | - | | | NM_001458.5(FLNC):c.1513G>A (p.Gly505Ser) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 200935123 | RCV000649151|RCV001570354|RCV002388127; | N | 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:C3661900|MedGen:CN230736 | 7 | 128480178 | 128480178 | | | 7:g.128480178G>A | ClinGen:CA4474365 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1519_1525del (p.Gly507fs) | 2318 | FLNC | Pathogenic | 1554398092 | RCV000547591; | N | 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 | 7 | 128480181 | 128480187 | | | NC_000007.13:g.128480184_128480190del | ClinGen:CA658657716 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1517G>A (p.Ser506Asn) | 2318 | FLNC | Uncertain significance | 1554398094 | RCV000649114; | N | 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 | 7 | 128480182 | 128480182 | | | 7:g.128480182G>A | ClinGen:CA369225796 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1518C>T (p.Ser506=) | 2318 | FLNC | Benign/Likely benign | 368101036 | RCV000539725|RCV002395438; | N | 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 | 7 | 128480183 | 128480183 | | | 7:g.128480183C>T | ClinGen:CA4474367 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1519G>A (p.Gly507Arg) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 189525930 | RCV000727134|RCV001084196|RCV002395142|RCV003150234; | N | MedGen: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 Phenotype | 7 | 128480184 | 128480184 | | | 7:g.128480184G>A | ClinGen:CA4474368 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1525C>G (p.Leu509Val) | 2318 | FLNC | Uncertain significance | -1 | RCV003055238; | N | 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 | 7 | 128480190 | 128480190 | | | NC_000007.13:g.128480190C>G | - | | | NM_001458.5(FLNC):c.1528A>C (p.Lys510Gln) | 2318 | FLNC | Uncertain significance | 955475416 | RCV000479599|RCV000812939|RCV002395180; | N | MedGen: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 | 7 | 128480193 | 128480193 | | | 7:g.128480193A>C | ClinGen:CA16618350 | CN169374 not specified; | | NM_001458.5(FLNC):c.1530G>A (p.Lys510=) | 2318 | FLNC | Likely benign | -1 | RCV003048795; | N | 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 | 7 | 128480195 | 128480195 | | | | - | | | NM_001458.5(FLNC):c.1533C>T (p.Val511=) | 2318 | FLNC | Likely benign | 2128934896 | RCV002153613; | N | 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 | 7 | 128480198 | 128480198 | | | 128480198 | - | | | NC_000007.13:g.(?_128480199)_(128481774_?)del | 2318 | FLNC | Likely pathogenic | -1 | RCV003107412; | N | 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 | 7 | 128480199 | 128481774 | | | | - | | | NM_001458.5(FLNC):c.1535C>A (p.Thr512Lys) | 2318 | FLNC | Uncertain significance | 775538827 | RCV000649091; | N | 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 | 7 | 128480200 | 128480200 | | | 7:g.128480200C>A | ClinGen:CA369225867 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1535C>T (p.Thr512Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 775538827 | RCV000952323|RCV001759674; | N | 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:CN517202 | 7 | 128480200 | 128480200 | | | 7:g.128480200C>T | - | | | NM_001458.5(FLNC):c.1536G>A (p.Thr512=) | 2318 | FLNC | Likely benign | 1335788654 | RCV001474625|RCV002405117; | N | 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:CN230736 | 7 | 128480201 | 128480201 | | | 128480201 | - | | | NM_001458.5(FLNC):c.1536G>C (p.Thr512=) | 2318 | FLNC | Likely benign | 1335788654 | RCV002149390; | N | 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 | 7 | 128480201 | 128480201 | | | 128480201 | - | | | NM_001458.5(FLNC):c.1539C>G (p.Val513=) | 2318 | FLNC | Likely benign | 2128934900 | RCV002165425; | N | 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 | 7 | 128480204 | 128480204 | | | 128480204 | - | | | NM_001458.5(FLNC):c.1541A>C (p.Lys514Thr) | 2318 | FLNC | Uncertain significance | 375881193 | RCV000649160|RCV002477441; | N | 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|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047 | 7 | 128480206 | 128480206 | | | NC_000007.13:g.128480206A>C | ClinGen:CA4474372 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1545G>T (p.Gly515=) | 2318 | FLNC | Likely benign | -1 | RCV002786727; | N | 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 | 7 | 128480210 | 128480210 | | | | - | | | NM_001458.5(FLNC):c.1548_1549+2del | 2318 | FLNC | Conflicting interpretations of pathogenicity | 763330423 | RCV000704433|RCV003165906; | N | 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:CN230736 | 7 | 128480213 | 128480216 | | | 7:g.128480213_128480216del | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1549+2T>G | 2318 | FLNC | Likely pathogenic | 111806457 | RCV000527579|RCV001379263|RCV003302895|RCV003330798; | N | MedGen: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 Phenotype | 7 | 128480216 | 128480216 | | | 7:g.128480216T>G | ClinGen:CA166216228 | CN239310 Dilated Cardiomyopathy, Dominant; | | NM_001458.5(FLNC):c.1549+7G>A | 2318 | FLNC | Likely benign | -1 | RCV002658368; | N | 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 | 7 | 128480221 | 128480221 | | | NC_000007.13:g.128480221G>A | - | | | NM_001458.5(FLNC):c.1549+8C>T | 2318 | FLNC | Likely benign | -1 | RCV003049759; | N | 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 | 7 | 128480222 | 128480222 | | | NC_000007.13:g.128480222C>T | - | | | NM_001458.5(FLNC):c.1549+15C>A | 2318 | FLNC | Benign | 181134489 | RCV000250808|RCV000514366|RCV002058049; | N | MedGen: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 | 7 | 128480229 | 128480229 | | | 7:g.128480229C>A | ClinGen:CA4474378 | CN517202 not provided; | | NM_001458.5(FLNC):c.1549+18G>C | 2318 | FLNC | Likely benign | 756141780 | RCV002187273; | N | 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 | 7 | 128480232 | 128480232 | | | 128480232 | - | | | NM_001458.5(FLNC):c.1550-18C>A | 2318 | FLNC | Likely benign | 1453268797 | RCV002214961; | N | MONDO:MONDO: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 | 7 | 128480584 | 128480584 | | | 128480584 | - | | | NM_001458.5(FLNC):c.1550-8C>A | 2318 | FLNC | Likely benign | -1 | RCV003039529; | N | 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 | 7 | 128480594 | 128480594 | | | NC_000007.13:g.128480594C>A | - | | | NM_001458.5(FLNC):c.1553G>A (p.Gly518Asp) | 2318 | FLNC | Uncertain significance | 1168879153 | RCV002013567; | N | 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 | 7 | 128480605 | 128480605 | | | 128480605 | - | | | NM_001458.5(FLNC):c.1563G>A (p.Glu521=) | 2318 | FLNC | Likely benign | -1 | RCV002611976; | N | 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 | 7 | 128480615 | 128480615 | | | | - | | | NM_001458.5(FLNC):c.1564C>G (p.Pro522Ala) | 2318 | FLNC | Uncertain significance | 1808287052 | RCV001066265; | N | 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 | 7 | 128480616 | 128480616 | | | 7:g.128480616C>G | - | | | NM_001458.5(FLNC):c.1565C>T (p.Pro522Leu) | 2318 | FLNC | Uncertain significance | -1 | RCV002914229; | N | 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 | 7 | 128480617 | 128480617 | | | NC_000007.13:g.128480617C>T | - | | | NC_000007.13:g.(?_128480619)_(128486474_?)del | 2318 | FLNC | Pathogenic | -1 | RCV003107411; | N | 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 | 7 | 128480619 | 128486474 | | | | - | | | NM_001458.5(FLNC):c.1568T>C (p.Val523Ala) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 182845462 | RCV000482713|RCV001083373|RCV002402376|RCV003150235; | N | MedGen: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 Phenotype | 7 | 128480620 | 128480620 | | | 7:g.128480620T>C | ClinGen:CA4474400 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1576C>T (p.Arg526Trp) | 2318 | FLNC | Likely benign | 758758113 | RCV000532188|RCV002404518; | N | 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:CN230736 | 7 | 128480628 | 128480628 | | | 7:g.128480628C>T | ClinGen:CA4474402 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1577G>A (p.Arg526Gln) | 2318 | FLNC | Benign/Likely benign | 34932223 | RCV000173741|RCV000544670|RCV001573925|RCV002390419; | N | MedGen: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:CN230736 | 7 | 128480629 | 128480629 | | | 7:g.128480629G>A | ClinGen:CA200695 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1581G>A (p.Glu527=) | 2318 | FLNC | Likely benign | 267601277 | RCV002994653; | N | 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 | 7 | 128480633 | 128480633 | | | NC_000007.13:g.128480633G>A | - | | | NM_001458.5(FLNC):c.1584T>C (p.Ala528=) | 2318 | FLNC | Likely benign | 1585155668 | RCV001493969|RCV002400041; | N | 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:CN230736 | 7 | 128480636 | 128480636 | | | 7:g.128480636T>C | - | | | NM_001458.5(FLNC):c.1584T>G (p.Ala528=) | 2318 | FLNC | Likely benign | -1 | RCV002654749; | N | 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 | 7 | 128480636 | 128480636 | | | | - | | | NM_001458.5(FLNC):c.1586G>T (p.Gly529Val) | 2318 | FLNC | Uncertain significance | 2128935018 | RCV001938737; | N | 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:614065, Orphanet:63273 | 7 | 128480638 | 128480638 | | | 128480638 | - | | | NM_001458.5(FLNC):c.1589_1602del (p.Asp530fs) | 2318 | FLNC | Pathogenic | -1 | RCV002824865; | N | 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 | 7 | 128480640 | 128480653 | | | NC_000007.13:g.128480641_128480654del | - | | | NM_001458.5(FLNC):c.1589A>T (p.Asp530Val) | 2318 | FLNC | Uncertain significance | 1371853934 | RCV000552589; | N | 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 | 7 | 128480641 | 128480641 | | | 7:g.128480641A>T | ClinGen:CA369226542 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1591G>A (p.Gly531Ser) | 2318 | FLNC | Uncertain significance | 779855512 | RCV001996922; | N | 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 | 7 | 128480643 | 128480643 | | | 128480643 | - | | | NM_001458.5(FLNC):c.1593_1600del (p.Phe533fs) | 2318 | FLNC | Pathogenic | -1 | RCV003003305; | N | 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 | 7 | 128480644 | 128480651 | | | NC_000007.13:g.128480645_128480652del | - | | | NM_001458.5(FLNC):c.1598T>G (p.Phe533Cys) | 2318 | FLNC | Uncertain significance | -1 | RCV002760425; | N | 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 | 7 | 128480650 | 128480650 | | | NC_000007.13:g.128480650T>G | - | | | NM_001458.5(FLNC):c.1599C>A (p.Phe533Leu) | 2318 | FLNC | Uncertain significance | 768072902 | RCV000649081; | N | 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 | 7 | 128480651 | 128480651 | | | NC_000007.13:g.128480651C>A | ClinGen:CA369226578 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1599C>T (p.Phe533=) | 2318 | FLNC | Likely benign | 768072902 | RCV001459073|RCV002405078; | N | 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:614065, Orphanet:63273|MedGen:CN230736 | 7 | 128480651 | 128480651 | | | 128480651 | - | | | NM_001458.5(FLNC):c.1600G>A (p.Glu534Lys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 201905890 | RCV000173740|RCV001085177|RCV001818414|RCV002399619; | N | 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:CN169374|MedGen:CN230736 | 7 | 128480652 | 128480652 | | | NC_000007.13:g.128480652G>A | ClinGen:CA239199 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1600G>C (p.Glu534Gln) | 2318 | FLNC | Uncertain significance | 201905890 | RCV001967424|RCV002503647; | N | 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:614065, Orphanet:63273|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047 | 7 | 128480652 | 128480652 | | | 128480652 | - | | | NM_001458.5(FLNC):c.1603T>G (p.Cys535Gly) | 2318 | FLNC | Uncertain significance | 1808289781 | RCV001233003; | N | 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 | 7 | 128480655 | 128480655 | | | 7:g.128480655T>G | - | | | NM_001458.5(FLNC):c.1605C>T (p.Cys535=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 199976790 | RCV000546180|RCV002404519|RCV001577625|RCV002483470; | N | 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:C3661900|MONDO:MONDO:001 | 7 | 128480657 | 128480657 | | | 7:g.128480657C>T | ClinGen:CA4474408 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1605C>A (p.Cys535Ter) | 2318 | FLNC | Pathogenic | 199976790 | RCV000649082; | N | 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 | 7 | 128480657 | 128480657 | | | 7:g.128480657C>A | ClinGen:CA369226597 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1606G>A (p.Glu536Lys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 141616435 | RCV000558576|RCV003144347|RCV002404520|RCV002497173; | N | 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:C3661900|MedGen:CN230736|MONDO:MONDO:001 | 7 | 128480658 | 128480658 | | | 7:g.128480658G>A | ClinGen:CA4474409 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1607A>G (p.Glu536Gly) | 2318 | FLNC | Uncertain significance | 2128935033 | RCV001908454; | N | 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 | 7 | 128480659 | 128480659 | | | 128480659 | - | | | NM_001458.5(FLNC):c.1608G>A (p.Glu536=) | 2318 | FLNC | Benign/Likely benign | 549086803 | RCV001703292|RCV002077158|RCV002388634; | N | 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:63273|MedGen:CN230736 | 7 | 128480660 | 128480660 | | | 128480660 | - | | | NM_001458.5(FLNC):c.1609T>G (p.Tyr537Asp) | 2318 | FLNC | Uncertain significance | 760471547 | RCV001215401; | N | 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 | 7 | 128480661 | 128480661 | | | 7:g.128480661T>G | - | | | NM_001458.5(FLNC):c.1614C>T (p.Tyr538=) | 2318 | FLNC | Benign | 76046880 | RCV000117067|RCV000534609|RCV001573753|RCV002399483; | N | MedGen: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:CN230736 | 7 | 128480666 | 128480666 | | | 7:g.128480666C>T | ClinGen:CA152838 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1616C>T (p.Pro539Leu) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 375570393 | RCV000804565|RCV001726333|RCV002397632; | N | 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:614065, Orphanet:63273|MedGen:C3661900|MedGen:CN230736 | 7 | 128480668 | 128480668 | | | 7:g.128480668C>T | - | | | NM_001458.5(FLNC):c.1617G>A (p.Pro539=) | 2318 | FLNC | Likely benign | 369222964 | RCV000547083|RCV002404521; | N | 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:CN230736 | 7 | 128480669 | 128480669 | | | NC_000007.13:g.128480669G>A | ClinGen:CA4474413 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1617G>C (p.Pro539=) | 2318 | FLNC | Likely benign | 369222964 | RCV001433461; | N | 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 | 7 | 128480669 | 128480669 | | | 128480669 | - | | | NM_001458.5(FLNC):c.1618G>T (p.Val540Leu) | 2318 | FLNC | Uncertain significance | 551472827 | RCV001370197; | N | 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 | 7 | 128480670 | 128480670 | | | 128480670 | - | | | NM_001458.5(FLNC):c.1620G>A (p.Val540=) | 2318 | FLNC | Likely benign | 2128935043 | RCV002214063; | N | 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 | 7 | 128480672 | 128480672 | | | 128480672 | - | | | NM_001458.5(FLNC):c.1628G>A (p.Gly543Glu) | 2318 | FLNC | Uncertain significance | 1221769888 | RCV001875373|RCV002397845; | N | 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:CN230736 | 7 | 128480680 | 128480680 | | | 128480680 | - | | | NM_001458.5(FLNC):c.1632G>A (p.Lys544=) | 2318 | FLNC | Likely benign | 566538377 | RCV001394969|RCV002400075; | N | MONDO:MONDO: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:CN230736 | 7 | 128480684 | 128480684 | | | 7:g.128480684G>A | - | | | NM_001458.5(FLNC):c.1641G>C (p.Val547=) | 2318 | FLNC | Likely benign | 202142168 | RCV001408330|RCV002404958|RCV003426081; | N | 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:CN230736|MedGen:C3661900 | 7 | 128480693 | 128480693 | | | 128480693 | - | | | NM_001458.5(FLNC):c.1645A>G (p.Ile549Val) | 2318 | FLNC | Uncertain significance | 547997371 | RCV000480032|RCV000686907|RCV002395178; | N | MedGen: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 | 7 | 128480697 | 128480697 | | | 7:g.128480697A>G | ClinGen:CA4474418 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1649C>T (p.Thr550Met) | 2318 | FLNC | Uncertain significance | 779802575 | RCV001936529|RCV003146373; | N | 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:614065, Orphanet:63273|MedGen:C3661900 | 7 | 128480701 | 128480701 | | | 128480701 | - | | | NM_001458.5(FLNC):c.1650G>A (p.Thr550=) | 2318 | FLNC | Likely benign | 754474889 | RCV000883379|RCV002399979; | N | 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:CN230736 | 7 | 128480702 | 128480702 | | | 7:g.128480702G>A | - | | | NM_001458.5(FLNC):c.1654G>T (p.Gly552Cys) | 2318 | FLNC | Uncertain significance | -1 | RCV003035109; | N | 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 | 7 | 128480706 | 128480706 | | | NC_000007.13:g.128480706G>T | - | | | NM_001458.5(FLNC):c.1656C>T (p.Gly552=) | 2318 | FLNC | Likely benign | 1585155760 | RCV001410030|RCV002400131; | N | 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 | 7 | 128480708 | 128480708 | | | 7:g.128480708C>T | - | | | NM_001458.5(FLNC):c.1657G>A (p.Gly553Ser) | 2318 | FLNC | Benign/Likely benign | 201572079 | RCV000659089|RCV001080056|RCV002395439; | N | 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:171445|MedGen:CN230736 | 7 | 128480709 | 128480709 | | | 7:g.128480709G>A | ClinGen:CA4474424 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1662C>T (p.Tyr554=) | 2318 | FLNC | Likely benign | 376975967 | RCV000877354|RCV002399966; | N | 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 | 7 | 128480714 | 128480714 | | | 7:g.128480714C>T | - | | | NM_001458.5(FLNC):c.1662C>A (p.Tyr554Ter) | 2318 | FLNC | Pathogenic | 376975967 | RCV001941736; | N | 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 | 7 | 128480714 | 128480714 | | | 128480714 | - | | | NM_001458.5(FLNC):c.1663G>A (p.Ala555Thr) | 2318 | FLNC | Uncertain significance | 1163059574 | RCV001938614|RCV002388837; | N | 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 | 7 | 128480715 | 128480715 | | | 128480715 | - | | | NM_001458.5(FLNC):c.1670del (p.Pro557fs) | 2318 | FLNC | Pathogenic | 2128935054 | RCV001383973; | N | 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 | 7 | 128480720 | 128480720 | | | 128480719 | - | | | NM_001458.5(FLNC):c.1672C>T (p.Arg558Cys) | 2318 | FLNC | Uncertain significance | 370326975 | RCV001347004; | N | 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 | 7 | 128480724 | 128480724 | | | 128480724 | - | | | NM_001458.5(FLNC):c.1673G>A (p.Arg558His) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 776881635 | RCV000649074|RCV001766401|RCV003372788; | N | 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:CN517202|MedGen:CN230736 | 7 | 128480725 | 128480725 | | | NC_000007.13:g.128480725G>A | ClinGen:CA4474430 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1673G>T (p.Arg558Leu) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 776881635 | RCV001037813|RCV002400224|RCV003145261; | N | 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|MedGen:CN230736|MedGen:CN517202 | 7 | 128480725 | 128480725 | | | 7:g.128480725G>T | - | | | NM_001458.5(FLNC):c.1676+1G>A | 2318 | FLNC | Likely pathogenic | 111452612 | RCV000540163|RCV001379592; | N | MedGen: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:63273 | 7 | 128480729 | 128480729 | | | NC_000007.13:g.128480729G>A | ClinGen:CA369226826 | CN239310 Dilated Cardiomyopathy, Dominant; | | NM_001458.5(FLNC):c.1676+2dup | 2318 | FLNC | Uncertain significance | 2128935058 | RCV001913614; | N | 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 | 7 | 128480729 | 128480730 | | | 128480729 | - | | | NM_001458.5(FLNC):c.1676+9C>T | 2318 | FLNC | Likely benign | 568005957 | RCV001444099; | N | MONDO:MONDO: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 | 7 | 128480737 | 128480737 | | | 128480737 | - | | | NM_001458.5(FLNC):c.1676+13C>T | 2318 | FLNC | Likely benign | 927536334 | RCV002215163; | N | 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:614065, Orphanet:63273 | 7 | 128480741 | 128480741 | | | 128480741 | - | | | NM_001458.5(FLNC):c.1676+20dup | 2318 | FLNC | Benign | 751788846 | RCV002087930; | N | 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 | 7 | 128480742 | 128480743 | | | 128480742 | - | | | NM_001458.5(FLNC):c.1676+14G>T | 2318 | FLNC | Likely benign | 775501421 | RCV002212546; | N | 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 | 7 | 128480742 | 128480742 | | | 128480742 | - | | | NM_001458.5(FLNC):c.1676+15C>T | 2318 | FLNC | Likely benign | 763127950 | RCV002197510; | N | MONDO:MONDO: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 | 7 | 128480743 | 128480743 | | | 128480743 | - | | | NM_001458.5(FLNC):c.1676+16C>T | 2318 | FLNC | Likely benign | 764636531 | RCV002109129; | N | 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 | 7 | 128480744 | 128480744 | | | 128480744 | - | | | NM_001458.5(FLNC):c.1676+20C>T | 2318 | FLNC | Likely benign | -1 | RCV002636384; | N | 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 | 7 | 128480748 | 128480748 | | | NC_000007.13:g.128480748C>T | - | | | NM_001458.5(FLNC):c.1677-16C>A | 2318 | FLNC | Likely benign | -1 | RCV003063227; | N | 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 | 7 | 128480872 | 128480872 | | | NC_000007.13:g.128480872C>A | - | | | NM_001458.5(FLNC):c.1677-14C>T | 2318 | FLNC | Likely benign | 562609616 | RCV002162205; | N | 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 | 7 | 128480874 | 128480874 | | | 128480874 | - | | | NM_001458.5(FLNC):c.1677-14C>A | 2318 | FLNC | Likely benign | -1 | RCV003056435; | N | 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 | 7 | 128480874 | 128480874 | | | NC_000007.13:g.128480874C>A | - | | | NM_001458.5(FLNC):c.1677-12C>T | 2318 | FLNC | Likely benign | 763076781 | RCV002225981|RCV003089200; | N | 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:63273 | 7 | 128480876 | 128480876 | | | 128480876 | - | | | NM_001458.5(FLNC):c.1677-12C>G | 2318 | FLNC | Likely benign | -1 | RCV002909728; | N | 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 | 7 | 128480876 | 128480876 | | | NC_000007.13:g.128480876C>G | - | | | NM_001458.5(FLNC):c.1688T>C (p.Val563Ala) | 2318 | FLNC | Uncertain significance | 774963796 | RCV001207701|RCV002411765|RCV002491628; | N | 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:CN230736|MONDO:MONDO:0012289,MedGen:C183 | 7 | 128480899 | 128480899 | | | 7:g.128480899T>C | - | | | NM_001458.5(FLNC):c.1693G>A (p.Val565Met) | 2318 | FLNC | Uncertain significance | -1 | RCV002512346|RCV002569454; | N | MedGen: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 | 7 | 128480904 | 128480904 | | | NC_000007.13:g.128480904G>A | - | | | NM_001458.5(FLNC):c.1695G>A (p.Val565=) | 2318 | FLNC | Likely benign | 982956977 | RCV001434133; | N | 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 | 7 | 128480906 | 128480906 | | | 7:g.128480906G>A | - | | | NM_001458.5(FLNC):c.1696A>T (p.Ser566Cys) | 2318 | FLNC | Uncertain significance | -1 | RCV003031875; | N | 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 | 7 | 128480907 | 128480907 | | | NC_000007.13:g.128480907A>T | - | | | NM_001458.5(FLNC):c.1698C>T (p.Ser566=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 112194548 | RCV000174053|RCV001081245|RCV002399620|RCV003150045; | N | 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:CN230736|Human Phenotype | 7 | 128480909 | 128480909 | | | 7:g.128480909C>T | ClinGen:CA239521 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1706C>T (p.Ala569Val) | 2318 | FLNC | Uncertain significance | 2128935115 | RCV002045205; | N | 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 | 7 | 128480917 | 128480917 | | | 128480917 | - | | | NM_001458.5(FLNC):c.1710A>T (p.Gly570=) | 2318 | FLNC | Likely benign | -1 | RCV002815335; | N | 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 | 7 | 128480921 | 128480921 | | | | - | | | NM_001458.5(FLNC):c.1711G>A (p.Val571Met) | 2318 | FLNC | Uncertain significance | 1194021325 | RCV002019927; | N | 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 | 7 | 128480922 | 128480922 | | | 128480922 | - | | | NM_001458.5(FLNC):c.1712T>C (p.Val571Ala) | 2318 | FLNC | Uncertain significance | 750817835 | RCV001206682; | N | 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 | 7 | 128480923 | 128480923 | | | 7:g.128480923T>C | - | | | NM_001458.5(FLNC):c.1713G>C (p.Val571=) | 2318 | FLNC | Likely benign | -1 | RCV002716969; | N | 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 | 7 | 128480924 | 128480924 | | | | - | | | NM_001458.5(FLNC):c.1716A>G (p.Gln572=) | 2318 | FLNC | Likely benign | -1 | RCV002785358; | N | 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 | 7 | 128480927 | 128480927 | | | | - | | | NM_001458.5(FLNC):c.1723C>T (p.Arg575Trp) | 2318 | FLNC | Uncertain significance | 761117952 | RCV000813157; | N | 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 | 7 | 128480934 | 128480934 | | | 7:g.128480934C>T | - | | | NM_001458.5(FLNC):c.1723C>A (p.Arg575=) | 2318 | FLNC | Uncertain significance | -1 | RCV002872772; | N | 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 | 7 | 128480934 | 128480934 | | | | - | | | NM_001458.5(FLNC):c.1724G>C (p.Arg575Pro) | 2318 | FLNC | Uncertain significance | 764751276 | RCV001208933; | N | 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 | 7 | 128480935 | 128480935 | | | 7:g.128480935G>C | - | | | NM_001458.5(FLNC):c.1724G>A (p.Arg575Gln) | 2318 | FLNC | Uncertain significance | 764751276 | RCV001979042|RCV002397977; | N | 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 | 7 | 128480935 | 128480935 | | | 128480935 | - | | | NM_001458.5(FLNC):c.1728C>G (p.Ala576=) | 2318 | FLNC | Likely benign | 370464621 | RCV001414967|RCV001697996|RCV002404662; | N | 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:C3661900|MedGen:CN230736 | 7 | 128480939 | 128480939 | | | 7:g.128480939C>G | ClinGen:CA4474461 | CN169374 not specified; | | NM_001458.5(FLNC):c.1728C>A (p.Ala576=) | 2318 | FLNC | Likely benign | 370464621 | RCV002216490; | N | 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 | 7 | 128480939 | 128480939 | | | 128480939 | - | | | NM_001458.5(FLNC):c.1729T>G (p.Trp577Gly) | 2318 | FLNC | Uncertain significance | 757878206 | RCV002002686|RCV002407218; | N | 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 | 7 | 128480940 | 128480940 | | | 128480940 | - | | | NM_001458.5(FLNC):c.1730G>A (p.Trp577Ter) | 2318 | FLNC | Pathogenic | 2128935124 | RCV001993075; | N | 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 | 7 | 128480941 | 128480941 | | | 128480941 | - | | | NM_001458.5(FLNC):c.1735C>A (p.Pro579Thr) | 2318 | FLNC | Uncertain significance | 1808303402 | RCV001204450|RCV002402587; | N | 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:CN230736 | 7 | 128480946 | 128480946 | | | 7:g.128480946C>A | - | | | NM_001458.5(FLNC):c.1748C>T (p.Thr583Ile) | 2318 | FLNC | Uncertain significance | 2128935128 | RCV001983607|RCV002398068; | N | 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:CN230736 | 7 | 128480959 | 128480959 | | | 128480959 | - | | | NM_001458.5(FLNC):c.1749T>C (p.Thr583=) | 2318 | FLNC | Likely benign | 781196373 | RCV001419270; | N | 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 | 7 | 128480960 | 128480960 | | | 128480960 | - | | | NM_001458.5(FLNC):c.1757T>C (p.Val586Ala) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 374132023 | RCV000536394|RCV001662580|RCV002413596|RCV002483471; | N | 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:CN517202|MedGen:CN230736|MONDO:MONDO:001 | 7 | 128480968 | 128480968 | | | 7:g.128480968T>C | ClinGen:CA4474467 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1758G>A (p.Val586=) | 2318 | FLNC | Likely benign | -1 | RCV002401630|RCV003121012; | N | MedGen: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:CN239310 | 7 | 128480969 | 128480969 | | | | - | | | NM_001458.5(FLNC):c.1766C>T (p.Ser589Leu) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 780098760 | RCV000703671|RCV002406641|RCV002477623; | N | 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:CN230736|MONDO:MONDO:0013550,MedGen:C327 | 7 | 128480977 | 128480977 | | | 7:g.128480977C>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1770C>T (p.Ala590=) | 2318 | FLNC | Likely benign | 367987438 | RCV001431898|RCV002409178; | N | 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 | 7 | 128480981 | 128480981 | | | 7:g.128480981C>T | - | | | NM_001458.5(FLNC):c.1771G>A (p.Asp591Asn) | 2318 | FLNC | Uncertain significance | 768829742 | RCV000801264|RCV002534674; | N | 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|MeSH:D030342,MedGen:C0950123 | 7 | 128480982 | 128480982 | | | 7:g.128480982G>A | - | | | NM_001458.5(FLNC):c.1773T>C (p.Asp591=) | 2318 | FLNC | Benign | -1 | RCV002635475; | N | 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 | 7 | 128480984 | 128480984 | | | | - | | | NM_001458.5(FLNC):c.1782G>A (p.Val594=) | 2318 | FLNC | Uncertain significance | 1317106205 | RCV001891363; | N | 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 | 7 | 128480993 | 128480993 | | | 128480993 | - | | | NM_001458.5(FLNC):c.1797C>T (p.Thr599=) | 2318 | FLNC | Likely benign | 773793586 | RCV000433756|RCV000527948|RCV002411341; | N | MedGen: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:CN230736 | 7 | 128481008 | 128481008 | | | 7:g.128481008C>T | ClinGen:CA4474475 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1798G>A (p.Glu600Lys) | 2318 | FLNC | Uncertain significance | 760911646 | RCV001922762; | N | 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 | 7 | 128481009 | 128481009 | | | 128481009 | - | | | NM_001458.5(FLNC):c.1800G>A (p.Glu600=) | 2318 | FLNC | Likely benign | 775105479 | RCV001407924; | N | 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 | 7 | 128481011 | 128481011 | | | 128481011 | - | | | NM_001458.5(FLNC):c.1801G>A (p.Val601Met) | 2318 | FLNC | Uncertain significance | 762652248 | RCV001910664; | N | MONDO:MONDO: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 | 7 | 128481012 | 128481012 | | | 128481012 | - | | | NM_001458.5(FLNC):c.1802T>C (p.Val601Ala) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 763590899 | RCV000649154|RCV000786311|RCV002406443; | N | 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:CN517202|MedGen:CN230736 | 7 | 128481013 | 128481013 | | | 7:g.128481013T>C | ClinGen:CA4474480 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1809A>G (p.Thr603=) | 2318 | FLNC | Likely benign | 751006360 | RCV001489778; | N | 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:614065, Orphanet:63273 | 7 | 128481020 | 128481020 | | | 128481020 | - | | | NM_001458.5(FLNC):c.1810C>T (p.Leu604=) | 2318 | FLNC | Likely benign | 1554398303 | RCV000649235; | N | 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 | 7 | 128481021 | 128481021 | | | NC_000007.13:g.128481021C>T | ClinGen:CA457846547 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1811T>C (p.Leu604Pro) | 2318 | FLNC | Uncertain significance | -1 | RCV003055244; | N | 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 | 7 | 128481022 | 128481022 | | | NC_000007.13:g.128481022T>C | - | | | NM_001458.5(FLNC):c.1813G>A (p.Gly605Ser) | 2318 | FLNC | Uncertain significance | 1562994122 | RCV000690844; | N | 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 | 7 | 128481024 | 128481024 | | | NC_000007.13:g.128481024G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1813+9C>A | 2318 | FLNC | Likely benign | -1 | RCV002835239; | N | 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 | 7 | 128481033 | 128481033 | | | NC_000007.13:g.128481033C>A | - | | | NM_001458.5(FLNC):c.1813+10T>A | 2318 | FLNC | Likely benign | 756806116 | RCV000649249; | N | 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 | 7 | 128481034 | 128481034 | | | NC_000007.13:g.128481034T>A | ClinGen:CA4474482 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1813+16dup | 2318 | FLNC | Benign | -1 | RCV003052604; | N | 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 | 7 | 128481034 | 128481035 | | | NC_000007.13:g.128481040dup | - | | | NM_001458.5(FLNC):c.1813+11G>T | 2318 | FLNC | Conflicting interpretations of pathogenicity | 138716837 | RCV000328069|RCV000726499|RCV002059293; | N | MedGen: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 | 7 | 128481035 | 128481035 | | | 7:g.128481035G>T | ClinGen:CA4474483 | CN169374 not specified; | | NM_001458.5(FLNC):c.1813+12G>A | 2318 | FLNC | Benign | 750404224 | RCV001652000|RCV002073009; | N | 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:171445 | 7 | 128481036 | 128481036 | | | 128481036 | - | | | NM_001458.5(FLNC):c.1813+16G>A | 2318 | FLNC | Likely benign | -1 | RCV002658003; | N | 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 | 7 | 128481040 | 128481040 | | | NC_000007.13:g.128481040G>A | - | | | NM_001458.5(FLNC):c.1813+18AGG[2] | 2318 | FLNC | Likely benign | -1 | RCV003084355; | N | 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 | 7 | 128481042 | 128481044 | | | NC_000007.13:g.128481042AGG[2] | - | | | NM_001458.5(FLNC):c.1814-14C>T | 2318 | FLNC | Likely benign | -1 | RCV002730566; | N | 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 | 7 | 128481210 | 128481210 | | | NC_000007.13:g.128481210C>T | - | | | NM_001458.5(FLNC):c.1814-13C>A | 2318 | FLNC | Likely benign | 766268709 | RCV000606816|RCV002063064; | N | 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 | 7 | 128481211 | 128481211 | | | 7:g.128481211C>A | ClinGen:CA4474504 | CN169374 not specified; | | NM_001458.5(FLNC):c.1814-13C>T | 2318 | FLNC | Likely benign | 766268709 | RCV002141399; | N | 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 | 7 | 128481211 | 128481211 | | | 128481211 | - | | | NM_001458.5(FLNC):c.1814-12A>G | 2318 | FLNC | Likely benign | -1 | RCV003104848; | N | 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 | 7 | 128481212 | 128481212 | | | NC_000007.13:g.128481212A>G | - | | | NM_001458.5(FLNC):c.1814-11C>T | 2318 | FLNC | Likely benign | -1 | RCV002853255; | N | 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 | 7 | 128481213 | 128481213 | | | NC_000007.13:g.128481213C>T | - | | | NM_001458.5(FLNC):c.1814-7G>A | 2318 | FLNC | Likely benign | 2128935218 | RCV001412909; | N | 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 | 7 | 128481217 | 128481217 | | | 128481217 | - | | | NM_001458.5(FLNC):c.1814-6C>G | 2318 | FLNC | Likely benign | -1 | RCV003039967; | N | 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 | 7 | 128481218 | 128481218 | | | NC_000007.13:g.128481218C>G | - | | | NM_001458.5(FLNC):c.1814-4C>G | 2318 | FLNC | Likely benign | -1 | RCV002824285; | N | 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 | 7 | 128481220 | 128481220 | | | NC_000007.13:g.128481220C>G | - | | | NM_001458.5(FLNC):c.1814-3C>G | 2318 | FLNC | Uncertain significance | 1162747854 | RCV001343798; | N | 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 | 7 | 128481221 | 128481221 | | | 128481221 | - | | | NM_001458.5(FLNC):c.1814G>C (p.Gly605Ala) | 2318 | FLNC | Uncertain significance | -1 | RCV003064177; | N | 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 | 7 | 128481224 | 128481224 | | | NC_000007.13:g.128481224G>C | - | | | NM_001458.5(FLNC):c.1815C>T (p.Gly605=) | 2318 | FLNC | Likely benign | 2128935228 | RCV002201709; | N | 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 | 7 | 128481225 | 128481225 | | | 128481225 | - | | | NM_001458.5(FLNC):c.1816T>G (p.Phe606Val) | 2318 | FLNC | Uncertain significance | 1808316775 | RCV001350561; | N | 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 | 7 | 128481226 | 128481226 | | | 128481226 | - | | | NM_001458.5(FLNC):c.1818C>T (p.Phe606=) | 2318 | FLNC | Likely benign | 1404509377 | RCV002407379|RCV002214615; | N | MedGen: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:CN239310 | 7 | 128481228 | 128481228 | | | 128481228 | - | | | NM_001458.5(FLNC):c.1822A>G (p.Ile608Val) | 2318 | FLNC | Likely benign | 779240577 | RCV001350661; | N | 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 | 7 | 128481232 | 128481232 | | | 128481232 | - | | | NM_001458.5(FLNC):c.1824C>G (p.Ile608Met) | 2318 | FLNC | Uncertain significance | 753007069 | RCV000685387; | N | 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 | 7 | 128481234 | 128481234 | | | 7:g.128481234C>G | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1824C>T (p.Ile608=) | 2318 | FLNC | Likely benign | -1 | RCV002410404|RCV003097276; | N | MedGen: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:CN239310 | 7 | 128481234 | 128481234 | | | | - | | | NM_001458.5(FLNC):c.1825G>A (p.Glu609Lys) | 2318 | FLNC | Uncertain significance | 758389160 | RCV000548907|RCV002413597; | N | 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:CN230736 | 7 | 128481235 | 128481235 | | | 7:g.128481235G>A | ClinGen:CA4474509 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1825G>C (p.Glu609Gln) | 2318 | FLNC | Uncertain significance | 758389160 | RCV001040561; | N | 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 | 7 | 128481235 | 128481235 | | | 7:g.128481235G>C | - | | | NM_001458.5(FLNC):c.1830G>C (p.Gly610=) | 2318 | FLNC | Likely benign | 747467683 | RCV002172092; | N | 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 | 7 | 128481240 | 128481240 | | | 128481240 | - | | | NM_001458.5(FLNC):c.1833C>T (p.Pro611=) | 2318 | FLNC | Likely benign | 771403245 | RCV000955637|RCV002409274|RCV003432961; | N | MONDO:MONDO: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 | 7 | 128481243 | 128481243 | | | 7:g.128481243C>T | - | | | NM_001458.5(FLNC):c.1840G>A (p.Ala614Thr) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 746183882 | RCV001301248|RCV002286577|RCV003284151; | N | 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:MONDO:0012289,MedGen:C1836050,OMIM:609524 | 7 | 128481250 | 128481250 | | | 128481250 | - | | | NM_001458.5(FLNC):c.1844dup (p.Ile616fs) | 2318 | FLNC | Pathogenic | 1808318504 | RCV001066987; | N | 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 | 7 | 128481252 | 128481253 | | | 7:g.128481252_128481253insA | - | | | NM_001458.5(FLNC):c.1848C>G (p.Ile616Met) | 2318 | FLNC | Uncertain significance | 770173704 | RCV000524898; | N | 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 | 7 | 128481258 | 128481258 | | | 7:g.128481258C>G | ClinGen:CA369227203 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1848C>T (p.Ile616=) | 2318 | FLNC | Likely benign | 770173704 | RCV001503700|RCV001546036|RCV002414224; | N | MONDO:MONDO: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:CN230736 | 7 | 128481258 | 128481258 | | | 128481258 | - | | | NM_001458.5(FLNC):c.1848C>A (p.Ile616=) | 2318 | FLNC | Likely benign | -1 | RCV003071946; | N | 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 | 7 | 128481258 | 128481258 | | | | - | | | NM_001458.5(FLNC):c.1849G>A (p.Glu617Lys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 773961444 | RCV001931219|RCV003146369; | N | 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:C3661900 | 7 | 128481259 | 128481259 | | | 128481259 | - | | | NM_001458.5(FLNC):c.1849G>T (p.Glu617Ter) | 2318 | FLNC | Pathogenic | -1 | RCV002863827; | N | 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 | 7 | 128481259 | 128481259 | | | NC_000007.13:g.128481259G>T | - | | | NM_001458.5(FLNC):c.1851A>G (p.Glu617=) | 2318 | FLNC | Likely benign | 199715890 | RCV002066342|RCV002409273; | N | 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:CN230736 | 7 | 128481261 | 128481261 | | | 7:g.128481261A>G | - | | | NM_001458.5(FLNC):c.1851A>T (p.Glu617Asp) | 2318 | FLNC | Uncertain significance | 199715890 | RCV001226458; | N | 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 | 7 | 128481261 | 128481261 | | | 7:g.128481261A>T | - | | | NM_001458.5(FLNC):c.1857C>T (p.Asp619=) | 2318 | FLNC | Likely benign | 771469976 | RCV000649219|RCV001078484|RCV002406444; | N | MedGen: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:CN230736 | 7 | 128481267 | 128481267 | | | NC_000007.13:g.128481267C>T | ClinGen:CA4474518 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1857C>G (p.Asp619Glu) | 2318 | FLNC | Uncertain significance | 771469976 | RCV001247408; | N | 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 | 7 | 128481267 | 128481267 | | | 7:g.128481267C>G | - | | | NM_001458.5(FLNC):c.1858G>C (p.Asp620His) | 2318 | FLNC | Uncertain significance | 567514134 | RCV000698623; | N | 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 | 7 | 128481268 | 128481268 | | | NC_000007.13:g.128481268G>C | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1858G>A (p.Asp620Asn) | 2318 | FLNC | Uncertain significance | 567514134 | RCV001245117|RCV002411902; | N | 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:CN230736 | 7 | 128481268 | 128481268 | | | 7:g.128481268G>A | - | | | NM_001458.5(FLNC):c.1861_1885dup (p.Arg629fs) | 2318 | FLNC | Pathogenic | 1585156327 | RCV000821675; | N | 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 | 7 | 128481269 | 128481270 | | | 7:g.128481269_128481270insCAAGGGGGATGGCTCCTGCGATGTG | - | | | NM_001458.5(FLNC):c.1862A>T (p.Lys621Met) | 2318 | FLNC | Uncertain significance | -1 | RCV002304757; | N | MONDO:MONDO: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 | 7 | 128481272 | 128481272 | | | 128481272 | - | | | NM_001458.5(FLNC):c.1866_1867del (p.Asp623fs) | 2318 | FLNC | Pathogenic | -1 | RCV003065951; | N | 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 | 7 | 128481273 | 128481274 | | | NC_000007.13:g.128481276_128481277del | - | | | NM_001458.5(FLNC):c.1866G>A (p.Gly622=) | 2318 | FLNC | Likely benign | 2128935248 | RCV002220828; | N | 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 | 7 | 128481276 | 128481276 | | | 128481276 | - | | | NM_001458.5(FLNC):c.1867G>A (p.Asp623Asn) | 2318 | FLNC | Uncertain significance | 912680912 | RCV001346054|RCV002412088; | N | 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:CN230736 | 7 | 128481277 | 128481277 | | | 128481277 | - | | | NM_001458.5(FLNC):c.1871G>C (p.Gly624Ala) | 2318 | FLNC | Uncertain significance | -1 | RCV002851365; | N | 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 | 7 | 128481281 | 128481281 | | | NC_000007.13:g.128481281G>C | - | | | NM_001458.5(FLNC):c.1872C>T (p.Gly624=) | 2318 | FLNC | Likely benign | 2128935252 | RCV002137846; | N | MONDO:MONDO: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 | 7 | 128481282 | 128481282 | | | 128481282 | - | | | NM_001458.5(FLNC):c.1878C>T (p.Cys626=) | 2318 | FLNC | Likely benign | 369735636 | RCV002133750|RCV002409570; | N | MONDO:MONDO: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:CN230736 | 7 | 128481288 | 128481288 | | | 128481288 | - | | | NM_001458.5(FLNC):c.1879G>A (p.Asp627Asn) | 2318 | FLNC | Uncertain significance | 1256634062 | RCV001900866; | N | 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 | 7 | 128481289 | 128481289 | | | 128481289 | - | | | NM_001458.5(FLNC):c.1881T>C (p.Asp627=) | 2318 | FLNC | Likely benign | 2128935255 | RCV002157487; | N | 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 | 7 | 128481291 | 128481291 | | | 128481291 | - | | | NM_001458.5(FLNC):c.1882G>A (p.Val628Met) | 2318 | FLNC | Uncertain significance | -1 | RCV003085951; | N | 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 | 7 | 128481292 | 128481292 | | | NC_000007.13:g.128481292G>A | - | | | NM_001458.5(FLNC):c.1885C>T (p.Arg629Trp) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 759376455 | RCV000823088|RCV001579972|RCV002221253; | N | 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:CN517202|MONDO:MONDO:0013550,MedGen:C327 | 7 | 128481295 | 128481295 | | | 7:g.128481295C>T | - | | | NM_001458.5(FLNC):c.1886G>A (p.Arg629Gln) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 765173966 | RCV000816208|RCV001702721|RCV002406859; | N | 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:CN517202|MedGen:CN230736 | 7 | 128481296 | 128481296 | | | 7:g.128481296G>A | - | | | NM_001458.5(FLNC):c.1890C>G (p.Tyr630Ter) | 2318 | FLNC | Pathogenic | 2128935258 | RCV001924347; | N | 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 | 7 | 128481300 | 128481300 | | | 128481300 | - | | | NM_001458.5(FLNC):c.1890C>T (p.Tyr630=) | 2318 | FLNC | Likely benign | -1 | RCV002876626; | N | 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 | 7 | 128481300 | 128481300 | | | | - | | | NM_001458.5(FLNC):c.1893G>C (p.Trp631Cys) | 2318 | FLNC | Uncertain significance | 1808320936 | RCV001219075; | N | 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 | 7 | 128481303 | 128481303 | | | 7:g.128481303G>C | - | | | NM_001458.5(FLNC):c.1893G>A (p.Trp631Ter) | 2318 | FLNC | Pathogenic | 1808320936 | RCV001388350; | N | 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 | 7 | 128481303 | 128481303 | | | 128481303 | - | | | NM_001458.5(FLNC):c.1895C>A (p.Pro632His) | 2318 | FLNC | Uncertain significance | 1482049894 | RCV001892803; | N | 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 | 7 | 128481305 | 128481305 | | | 128481305 | - | | | NM_001458.5(FLNC):c.1896C>T (p.Pro632=) | 2318 | FLNC | Likely benign | 1013540977 | RCV002131439; | N | MONDO:MONDO: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 | 7 | 128481306 | 128481306 | | | 128481306 | - | | | NM_001458.5(FLNC):c.1898C>T (p.Thr633Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1187790496 | RCV000800296|RCV001592985; | N | 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:C3661900 | 7 | 128481308 | 128481308 | | | 7:g.128481308C>T | - | | | NM_001458.5(FLNC):c.1899G>A (p.Thr633=) | 2318 | FLNC | Benign/Likely benign | 553903798 | RCV001593212|RCV001044656|RCV002409406; | N | 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:CN230736 | 7 | 128481309 | 128481309 | | | 7:g.128481309G>A | - | | | NM_001458.5(FLNC):c.1902G>A (p.Glu634=) | 2318 | FLNC | Benign/Likely benign | 12536635 | RCV000174300|RCV000541893|RCV001080126|RCV002408757; | N | MedGen: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:CN230736 | 7 | 128481312 | 128481312 | | | 7:g.128481312G>A | ClinGen:CA200929 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1903C>T (p.Pro635Ser) | 2318 | FLNC | Uncertain significance | -1 | RCV003077103|RCV003060809; | N | MeSH: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:171445 | 7 | 128481313 | 128481313 | | | NC_000007.13:g.128481313C>T | - | | | NM_001458.5(FLNC):c.1908G>A (p.Gly636=) | 2318 | FLNC | Likely benign | 2128935267 | RCV001455282; | N | 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 | 7 | 128481318 | 128481318 | | | 128481318 | - | | | NM_001458.5(FLNC):c.1910A>G (p.Glu637Gly) | 2318 | FLNC | Likely benign | 536328437 | RCV002023349; | N | 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 | 7 | 128481320 | 128481320 | | | 128481320 | - | | | NM_001458.5(FLNC):c.1914C>G (p.Tyr638Ter) | 2318 | FLNC | Pathogenic | 757352623 | RCV001381189; | N | 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 | 7 | 128481324 | 128481324 | | | 128481324 | - | | | NM_001458.5(FLNC):c.1915G>A (p.Ala639Thr) | 2318 | FLNC | Uncertain significance | 1175392094 | RCV000813384; | N | 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 | 7 | 128481325 | 128481325 | | | 7:g.128481325G>A | - | | | NM_001458.5(FLNC):c.1917T>G (p.Ala639=) | 2318 | FLNC | Likely benign | 781632907 | RCV002189444; | N | 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 | 7 | 128481327 | 128481327 | | | 128481327 | - | | | NM_001458.5(FLNC):c.1923C>T (p.His641=) | 2318 | FLNC | Likely benign | 375361259 | RCV000553799|RCV000615952|RCV001702512|RCV002413598; | N | 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:CN517202|MedGen:CN230736 | 7 | 128481333 | 128481333 | | | 7:g.128481333C>T | ClinGen:CA4474530 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1924G>A (p.Val642Ile) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 369387744 | RCV000525252|RCV001546268|RCV001824825|RCV002413599; | N | 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:C3661900|MedGen:CN169374|MedGen:CN230736 | 7 | 128481334 | 128481334 | | | 7:g.128481334G>A | ClinGen:CA4474531 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1927A>G (p.Ile643Val) | 2318 | FLNC | Uncertain significance | 1808322583 | RCV002047003; | N | MONDO:MONDO: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 | 7 | 128481337 | 128481337 | | | 128481337 | - | | | NM_001458.5(FLNC):c.1927A>C (p.Ile643Leu) | 2318 | FLNC | Uncertain significance | 1808322583 | RCV001978455; | N | 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 | 7 | 128481337 | 128481337 | | | 128481337 | - | | | NM_001458.5(FLNC):c.1932del (p.Cys644fs) | 2318 | FLNC | Uncertain significance | -1 | RCV003140298; | N | MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273 | 7 | 128481342 | 128481342 | | | NC_000007.13:g.128481342del | - | | | NM_001458.5(FLNC):c.1935_1937del (p.Asp646del) | 2318 | FLNC | Uncertain significance | 765300084 | RCV000542255|RCV002491077|RCV002413600|RCV003144348; | N | 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:C1836050,OMIM:609524 | 7 | 128481343 | 128481345 | | | NC_000007.13:g.128481345_128481347del | ClinGen:CA4474532 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1934A>C (p.Asp645Ala) | 2318 | FLNC | Uncertain significance | 1554398369 | RCV000649152|RCV003153789; | N | 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:CN517202 | 7 | 128481344 | 128481344 | | | 7:g.128481344A>C | ClinGen:CA369227397 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1935C>T (p.Asp645=) | 2318 | FLNC | Likely benign | -1 | RCV002610262; | N | 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 | 7 | 128481345 | 128481345 | | | | - | | | NM_001458.5(FLNC):c.1936G>A (p.Asp646Asn) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 372668691 | RCV000817903|RCV001702722; | N | 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:CN517202 | 7 | 128481346 | 128481346 | | | 7:g.128481346G>A | - | | | NM_001458.5(FLNC):c.1938T>A (p.Asp646Glu) | 2318 | FLNC | Uncertain significance | 1347868577 | RCV001890319; | N | 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 | 7 | 128481348 | 128481348 | | | 128481348 | - | | | NM_001458.5(FLNC):c.1945_1953dup (p.Ile649_Asp651dup) | 2318 | FLNC | Uncertain significance | 1554398377 | RCV000554717; | N | 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 | 7 | 128481351 | 128481352 | | | 7:g.128481351_128481352insGACATCCGA | ClinGen:CA658657717 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1948C>T (p.Arg650Ter) | 2318 | FLNC | Pathogenic | 770606675 | RCV000479811|RCV000552507|RCV002413329; | N | MedGen: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 | 7 | 128481358 | 128481358 | | | 7:g.128481358C>T | ClinGen:CA16618351 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1948C>G (p.Arg650Gly) | 2318 | FLNC | Uncertain significance | 770606675 | RCV000685417; | N | 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 | 7 | 128481358 | 128481358 | | | 7:g.128481358C>G | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1953C>T (p.Asp651=) | 2318 | FLNC | Benign/Likely benign | 554570268 | RCV001516055|RCV002421166|RCV003426168; | N | 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:C3661900 | 7 | 128481363 | 128481363 | | | 128481363 | - | | | NM_001458.5(FLNC):c.1958C>T (p.Pro653Leu) | 2318 | FLNC | Uncertain significance | 1808324139 | RCV001325043; | N | 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 | 7 | 128481368 | 128481368 | | | 128481368 | - | | | NM_001458.5(FLNC):c.1962C>T (p.Phe654=) | 2318 | FLNC | Likely benign | 1585156448 | RCV001503224|RCV002416175; | N | 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 | 7 | 128481372 | 128481372 | | | 7:g.128481372C>T | - | | | NM_001458.5(FLNC):c.1963A>G (p.Ile655Val) | 2318 | FLNC | Uncertain significance | 2128935277 | RCV001370612; | N | 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 | 7 | 128481373 | 128481373 | | | 128481373 | - | | | NM_001458.5(FLNC):c.1965_1966del (p.Ala656fs) | 2318 | FLNC | Pathogenic/Likely pathogenic | 1585156450 | RCV001008981|RCV001388841; | N | MedGen: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 | 7 | 128481375 | 128481376 | | | 7:g.128481375_128481376del | - | | | NM_001458.5(FLNC):c.1975C>G (p.Leu659Val) | 2318 | FLNC | Uncertain significance | -1 | RCV002715920; | N | 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 | 7 | 128481385 | 128481385 | | | NC_000007.13:g.128481385C>G | - | | | NM_001458.5(FLNC):c.1976T>G (p.Leu659Arg) | 2318 | FLNC | Benign/Likely benign | 576402053 | RCV000350055|RCV000877929|RCV001697710|RCV002418134; | N | MedGen: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:CN230736 | 7 | 128481386 | 128481386 | | | 7:g.128481386T>G | ClinGen:CA4474541 | CN169374 not specified; | | NM_001458.5(FLNC):c.1979C>T (p.Pro660Leu) | 2318 | FLNC | Uncertain significance | 775292418 | RCV001942914|RCV002423028; | N | 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|MedGen:CN230736 | 7 | 128481389 | 128481389 | | | 128481389 | - | | | NM_001458.5(FLNC):c.1980C>T (p.Pro660=) | 2318 | FLNC | Likely benign | 762673516 | RCV000531330|RCV002420498; | N | 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:CN230736 | 7 | 128481390 | 128481390 | | | NC_000007.13:g.128481390C>T | ClinGen:CA4474543 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.1981G>A (p.Ala661Thr) | 2318 | FLNC | Uncertain significance | 1480694554 | RCV001761104|RCV002421268|RCV002539149; | N | MedGen: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:75249 | 7 | 128481391 | 128481391 | | | 128481391 | - | | | NM_001458.5(FLNC):c.1991_1994del (p.Asp664fs) | 2318 | FLNC | Pathogenic | 2128935287 | RCV001380510; | N | 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 | 7 | 128481398 | 128481401 | | | 128481397 | - | | | NM_001458.5(FLNC):c.2007+6G>A | 2318 | FLNC | Uncertain significance | 757293841 | RCV001942953; | N | 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 | 7 | 128481423 | 128481423 | | | 128481423 | - | | | NM_001458.5(FLNC):c.2007+10C>T | 2318 | FLNC | Likely benign | 2128935294 | RCV002199356; | N | 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 | 7 | 128481427 | 128481427 | | | 128481427 | - | | | NM_001458.5(FLNC):c.2007+12G>A | 2318 | FLNC | Likely benign | -1 | RCV002848201; | N | 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 | 7 | 128481429 | 128481429 | | | NC_000007.13:g.128481429G>A | - | | | NM_001458.5(FLNC):c.2007+18_2007+23del | 2318 | FLNC | Likely benign | 1808326543 | RCV002110743; | N | 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 | 7 | 128481432 | 128481437 | | | 128481431 | - | | | NM_001458.5(FLNC):c.2007+17C>T | 2318 | FLNC | Likely benign | -1 | RCV002711318; | N | 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 | 7 | 128481434 | 128481434 | | | NC_000007.13:g.128481434C>T | - | | | NM_001458.5(FLNC):c.2008-18C>A | 2318 | FLNC | Likely benign | 763833533 | RCV002075184; | N | 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 | 7 | 128481490 | 128481490 | | | 128481490 | - | | | NM_001458.5(FLNC):c.2008-14T>G | 2318 | FLNC | Likely benign | 1057460428 | RCV002216256; | N | 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 | 7 | 128481494 | 128481494 | | | 128481494 | - | | | NM_001458.5(FLNC):c.2008-12C>T | 2318 | FLNC | Likely benign | 774607151 | RCV002090477; | N | MONDO:MONDO: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 | 7 | 128481496 | 128481496 | | | 128481496 | - | | | NM_001458.5(FLNC):c.2008-10C>T | 2318 | FLNC | Likely benign | 2128935323 | RCV002217275; | N | 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:614065, Orphanet:63273 | 7 | 128481498 | 128481498 | | | 128481498 | - | | | NM_001458.5(FLNC):c.2008-9T>C | 2318 | FLNC | Likely benign | 2128935326 | RCV002180678; | N | 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 | 7 | 128481499 | 128481499 | | | 128481499 | - | | | NM_001458.5(FLNC):c.2008-7C>T | 2318 | FLNC | Conflicting interpretations of pathogenicity | 767576240 | RCV000174509|RCV000649255; | N | MedGen: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 | 7 | 128481501 | 128481501 | | | 7:g.128481501C>T | ClinGen:CA240056 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2008-6G>A | 2318 | FLNC | Likely benign | 577813339 | RCV001500513|RCV002504474; | N | 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:C1836050,OMIM:609524 | 7 | 128481502 | 128481502 | | | 128481502 | - | | | NM_001458.5(FLNC):c.2008-6G>T | 2318 | FLNC | Likely benign | 577813339 | RCV002113975; | N | 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 | 7 | 128481502 | 128481502 | | | 128481502 | - | | | NM_001458.5(FLNC):c.2008-5C>T | 2318 | FLNC | Likely benign | 2128935333 | RCV001409623; | N | 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 | 7 | 128481503 | 128481503 | | | 128481503 | - | | | NM_001458.5(FLNC):c.2008-5del | 2318 | FLNC | Likely benign | 2128935334 | RCV002158567; | N | 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 | 7 | 128481503 | 128481503 | | | 128481502 | - | | | NM_001458.5(FLNC):c.2008-3C>T | 2318 | FLNC | Uncertain significance | -1 | RCV002776237; | N | 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 | 7 | 128481505 | 128481505 | | | NC_000007.13:g.128481505C>T | - | | | NM_001458.5(FLNC):c.2008G>A (p.Val670Met) | 2318 | FLNC | Uncertain significance | -1 | RCV003093328; | N | 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 | 7 | 128481508 | 128481508 | | | NC_000007.13:g.128481508G>A | - | | | NM_001458.5(FLNC):c.2022G>A (p.Gly674=) | 2318 | FLNC | Likely benign | 1359520022 | RCV001461850; | N | 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 | 7 | 128481522 | 128481522 | | | 128481522 | - | | | NM_001458.5(FLNC):c.2023C>T (p.Pro675Ser) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1227192105 | RCV000696041|RCV002422529|RCV002493204; | N | 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:0014883,MedGen:C431 | 7 | 128481523 | 128481523 | | | NC_000007.13:g.128481523C>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2029C>G (p.Leu677Val) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 754331955 | RCV001773058|RCV002540560; | N | 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:171445 | 7 | 128481529 | 128481529 | | | 128481529 | - | | | NM_001458.5(FLNC):c.2029C>T (p.Leu677=) | 2318 | FLNC | Likely benign | 754331955 | RCV002092024; | N | 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 | 7 | 128481529 | 128481529 | | | 128481529 | - | | | NM_001458.5(FLNC):c.2033A>G (p.Glu678Gly) | 2318 | FLNC | Uncertain significance | 1232073461 | RCV001045881; | N | 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 | 7 | 128481533 | 128481533 | | | 7:g.128481533A>G | - | | | NM_001458.5(FLNC):c.2035C>T (p.Pro679Ser) | 2318 | FLNC | Uncertain significance | 1808331792 | RCV001315710; | N | 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 | 7 | 128481535 | 128481535 | | | 128481535 | - | | | NM_001458.5(FLNC):c.2036C>T (p.Pro679Leu) | 2318 | FLNC | Uncertain significance | 975517733 | RCV000649146|RCV001535634|RCV003144442; | N | 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|MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065 | 7 | 128481536 | 128481536 | | | 7:g.128481536C>T | ClinGen:CA166217424 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2040C>T (p.Thr680=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 368121231 | RCV000174510|RCV001082930|RCV002415742; | N | 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:CN230736 | 7 | 128481540 | 128481540 | | | 7:g.128481540C>T | ClinGen:CA240057 | CN169374 not specified; | | NM_001458.5(FLNC):c.2041G>A (p.Gly681Ser) | 2318 | FLNC | Likely benign | 199705417 | RCV001067264|RCV001724226; | N | 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:C3661900 | 7 | 128481541 | 128481541 | | | 7:g.128481541G>A | - | | | NM_001458.5(FLNC):c.2046C>T (p.Cys682=) | 2318 | FLNC | Benign | -1 | RCV002894104; | N | 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 | 7 | 128481546 | 128481546 | | | | - | | | NM_001458.5(FLNC):c.2048_2049del (p.Ile683fs) | 2318 | FLNC | Pathogenic | 2128935347 | RCV002002467; | N | 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 | 7 | 128481548 | 128481549 | | | 128481547 | - | | | NM_001458.5(FLNC):c.2050G>A (p.Val684Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 769221710 | RCV001246140|RCV001751496; | N | 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:CN517202 | 7 | 128481550 | 128481550 | | | 7:g.128481550G>A | - | | | NM_001458.5(FLNC):c.2050G>C (p.Val684Leu) | 2318 | FLNC | Uncertain significance | 769221710 | RCV001959413|RCV002423157; | N | 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:CN230736 | 7 | 128481550 | 128481550 | | | 128481550 | - | | | NM_001458.5(FLNC):c.2052G>A (p.Val684=) | 2318 | FLNC | Uncertain significance | 1554398437 | RCV000539208; | N | 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 | 7 | 128481552 | 128481552 | | | NC_000007.13:g.128481552G>A | ClinGen:CA457583488 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2059C>T (p.Pro687Ser) | 2318 | FLNC | Uncertain significance | -1 | RCV002659150; | N | 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 | 7 | 128481559 | 128481559 | | | NC_000007.13:g.128481559C>T | - | | | NM_001458.5(FLNC):c.2061C>T (p.Pro687=) | 2318 | FLNC | Likely benign | 545269561 | RCV000904458|RCV003169261|RCV001412620; | N | MedGen: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:75249 | 7 | 128481561 | 128481561 | | | 7:g.128481561C>T | - | | | NM_001458.5(FLNC):c.2061C>A (p.Pro687=) | 2318 | FLNC | Likely benign | 545269561 | RCV001470390; | N | 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 | 7 | 128481561 | 128481561 | | | 128481561 | - | | | NM_001458.5(FLNC):c.2062G>T (p.Ala688Ser) | 2318 | FLNC | Uncertain significance | 774194364 | RCV000690480|RCV003163147; | N | 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:CN230736 | 7 | 128481562 | 128481562 | | | 7:g.128481562G>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2062G>A (p.Ala688Thr) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 774194364 | RCV001369204|RCV002476683; | N | 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:0013550,MedGen:C3279722,OMIM:614065 | 7 | 128481562 | 128481562 | | | 128481562 | - | | | NM_001458.5(FLNC):c.2062G>C (p.Ala688Pro) | 2318 | FLNC | Uncertain significance | 774194364 | RCV001960250; | N | 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 | 7 | 128481562 | 128481562 | | | 128481562 | - | | | NM_001458.5(FLNC):c.2063C>T (p.Ala688Val) | 2318 | FLNC | Uncertain significance | 772223832 | RCV000820015; | N | 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 | 7 | 128481563 | 128481563 | | | 7:g.128481563C>T | - | | | NM_001458.5(FLNC):c.2064T>G (p.Ala688=) | 2318 | FLNC | Likely benign | 773444538 | RCV000615652|RCV001419376|RCV002420613; | N | MedGen: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:CN230736 | 7 | 128481564 | 128481564 | | | 7:g.128481564T>G | ClinGen:CA4474581 | CN169374 not specified; | | NM_001458.5(FLNC):c.2065G>T (p.Glu689Ter) | 2318 | FLNC | Pathogenic | 1446694237 | RCV000649183; | N | 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 | 7 | 128481565 | 128481565 | | | 7:g.128481565G>T | ClinGen:CA369227917 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2065G>A (p.Glu689Lys) | 2318 | FLNC | Uncertain significance | 1446694237 | RCV001698750|RCV001866263|RCV002496019; | N | 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:63273|MONDO:MONDO:0014883,MedGen:C431 | 7 | 128481565 | 128481565 | | | 128481565 | - | | | NM_001458.5(FLNC):c.2068T>C (p.Phe690Leu) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 200943714 | RCV000649153|RCV001171871|RCV002422377; | N | 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:CN517202|MedGen:CN230736 | 7 | 128481568 | 128481568 | | | NC_000007.13:g.128481568T>C | ClinGen:CA4474582 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2072C>T (p.Thr691Ile) | 2318 | FLNC | Uncertain significance | 2128935358 | RCV001362165; | N | 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 | 7 | 128481572 | 128481572 | | | 128481572 | - | | | NM_001458.5(FLNC):c.2073C>T (p.Thr691=) | 2318 | FLNC | Likely benign | 2128935360 | RCV002125747; | N | 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:614065, Orphanet:63273 | 7 | 128481573 | 128481573 | | | 128481573 | - | | | NM_001458.5(FLNC):c.2075T>C (p.Ile692Thr) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 538863259 | RCV000707286|RCV002422615|RCV003144571; | N | 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:CN230736|MedGen:CN517202 | 7 | 128481575 | 128481575 | | | NC_000007.13:g.128481575T>C | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2078A>C (p.Asp693Ala) | 2318 | FLNC | Benign/Likely benign | 34972246 | RCV000247873|RCV000556197|RCV001701813|RCV002418080; | N | MedGen: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:CN230736 | 7 | 128481578 | 128481578 | | | NC_000007.13:g.128481578A>C | ClinGen:CA4474584 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2081C>T (p.Ala694Val) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1315847764 | RCV001371251|RCV003448400; | N | 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:0014883,MedGen:C4310749,OMIM:617047 | 7 | 128481581 | 128481581 | | | 128481581 | - | | | NM_001458.5(FLNC):c.2083C>T (p.Arg695Cys) | 2318 | FLNC | Uncertain significance | -1 | RCV002966947; | N | 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 | 7 | 128481583 | 128481583 | | | NC_000007.13:g.128481583C>T | - | | | NM_001458.5(FLNC):c.2084G>T (p.Arg695Leu) | 2318 | FLNC | Uncertain significance | 766592492 | RCV000694616|RCV002422519; | N | 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:CN230736 | 7 | 128481584 | 128481584 | | | NC_000007.13:g.128481584G>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2084G>C (p.Arg695Pro) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 766592492 | RCV001067768|RCV002418551|RCV003433011; | N | 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|MedGen:C3661900 | 7 | 128481584 | 128481584 | | | 7:g.128481584G>C | - | | | NM_001458.5(FLNC):c.2084G>A (p.Arg695His) | 2318 | FLNC | Likely benign | 766592492 | RCV001223259; | N | 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 | 7 | 128481584 | 128481584 | | | 7:g.128481584G>A | - | | | NM_001458.5(FLNC):c.2084del (p.Arg695fs) | 2318 | FLNC | Pathogenic | 1808334682 | RCV001238630|RCV001586078; | N | 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:CN517202 | 7 | 128481584 | 128481584 | | | 7:g.128481584_128481584del | - | | | NM_001458.5(FLNC):c.2090C>T (p.Ala697Val) | 2318 | FLNC | Uncertain significance | -1 | RCV003024470; | N | 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 | 7 | 128481590 | 128481590 | | | NC_000007.13:g.128481590C>T | - | | | NM_001458.5(FLNC):c.2092G>A (p.Gly698Ser) | 2318 | FLNC | Uncertain significance | 1461903090 | RCV001218020|RCV002287483|RCV003145404|RCV003294050; | N | 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|Human Phenotype Ontology:HP:0001638,MONDO:MONDO | 7 | 128481592 | 128481592 | | | 7:g.128481592G>A | - | | | NM_001458.5(FLNC):c.2093G>A (p.Gly698Asp) | 2318 | FLNC | Uncertain significance | 1562994518 | RCV000687346; | N | 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 | 7 | 128481593 | 128481593 | | | 7:g.128481593G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2094C>T (p.Gly698=) | 2318 | FLNC | Uncertain significance | 1585156683 | RCV001883940; | N | 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 | 7 | 128481594 | 128481594 | | | 128481594 | - | | | NM_001458.5(FLNC):c.2107_2119delinsT (p.Lys703_Gln707delinsTer) | 2318 | FLNC | Uncertain significance | 1585156701 | RCV000807600; | N | 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 | 7 | 128481607 | 128481619 | | | 7:g.128481608_128481619del | - | | | NM_001458.5(FLNC):c.2108A>G (p.Lys703Arg) | 2318 | FLNC | Uncertain significance | 753914864 | RCV002015602|RCV002423225; | N | 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:CN230736 | 7 | 128481608 | 128481608 | | | 128481608 | - | | | NM_001458.5(FLNC):c.2112C>G (p.Leu704=) | 2318 | FLNC | Likely benign | 758859689 | RCV000922806|RCV001452929|RCV002420598; | N | MedGen: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 | 7 | 128481612 | 128481612 | | | 7:g.128481612C>G | ClinGen:CA4474588 | CN169374 not specified; | | NM_001458.5(FLNC):c.2114A>C (p.Tyr705Ser) | 2318 | FLNC | Uncertain significance | 368473600 | RCV001301112; | N | 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 | 7 | 128481614 | 128481614 | | | 128481614 | - | | | NM_001458.5(FLNC):c.2119C>T (p.Gln707Ter) | 2318 | FLNC | Pathogenic | 1808336992 | RCV001052901|RCV003318659; | N | 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:CN517202 | 7 | 128481619 | 128481619 | | | 7:g.128481619C>T | - | | | NM_001458.5(FLNC):c.2121+4G>A | 2318 | FLNC | Conflicting interpretations of pathogenicity | 372098008 | RCV000703917|RCV001575020; | N | 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:CN517202 | 7 | 128481625 | 128481625 | | | 7:g.128481625G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2121+5G>A | 2318 | FLNC | Uncertain significance | 376348610 | RCV001984733; | N | 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:614065, Orphanet:63273 | 7 | 128481626 | 128481626 | | | 128481626 | - | | | NM_001458.5(FLNC):c.2121+9T>C | 2318 | FLNC | Likely benign | 2128935382 | RCV001497355; | N | 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 | 7 | 128481630 | 128481630 | | | 128481630 | - | | | NM_001458.5(FLNC):c.2121+10T>C | 2318 | FLNC | Likely benign | 527417498 | RCV001425270; | N | 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 | 7 | 128481631 | 128481631 | | | 7:g.128481631T>C | - | | | NM_001458.5(FLNC):c.2122-19G>A | 2318 | FLNC | Likely benign | -1 | RCV002599389; | N | 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 | 7 | 128482266 | 128482266 | | | NC_000007.13:g.128482266G>A | - | | | NM_001458.5(FLNC):c.2122-17T>C | 2318 | FLNC | Benign | 144828462 | RCV000252647|RCV002058050; | N | MedGen: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 | 7 | 128482268 | 128482268 | | | NC_000007.13:g.128482268T>C | ClinGen:CA4474604 | CN169374 not specified; | | NC_000007.14:g.(?_128842221)_(128850084_?)del | 2318 | FLNC | Uncertain significance | -1 | RCV001031966; | N | 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 | 7 | 128482275 | 128490138 | | | -1 | - | | | NM_001458.5(FLNC):c.2122-9T>C | 2318 | FLNC | Likely benign | 369054931 | RCV002076817; | N | MONDO:MONDO: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 | 7 | 128482276 | 128482276 | | | 128482276 | - | | | NM_001458.5(FLNC):c.2122-6C>G | 2318 | FLNC | Uncertain significance | 1808361488 | RCV001034780; | N | 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 | 7 | 128482279 | 128482279 | | | 7:g.128482279C>G | - | | | NM_001458.5(FLNC):c.2124C>T (p.Asp708=) | 2318 | FLNC | Likely benign | 187481700 | RCV000649212|RCV001088446|RCV002420631; | N | MedGen: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 | 7 | 128482287 | 128482287 | | | 7:g.128482287C>T | ClinGen:CA4474606 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2124C>A (p.Asp708Glu) | 2318 | FLNC | Uncertain significance | 187481700 | RCV001303896; | N | 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:614065, Orphanet:63273 | 7 | 128482287 | 128482287 | | | 128482287 | - | | | NM_001458.5(FLNC):c.2125G>A (p.Ala709Thr) | 2318 | FLNC | Benign/Likely benign | 192725607 | RCV000246779|RCV000532267|RCV001702388|RCV002418081; | N | MedGen: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:CN230736 | 7 | 128482288 | 128482288 | | | NC_000007.13:g.128482288G>A | ClinGen:CA4474608 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2125G>T (p.Ala709Ser) | 2318 | FLNC | Uncertain significance | -1 | RCV002591668; | N | 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 | 7 | 128482288 | 128482288 | | | NC_000007.13:g.128482288G>T | - | | | NM_001458.5(FLNC):c.2127C>T (p.Ala709=) | 2318 | FLNC | Likely benign | 753225379 | RCV001465443|RCV002421056; | N | 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 | 7 | 128482290 | 128482290 | | | 128482290 | - | | | NM_001458.5(FLNC):c.2128G>A (p.Asp710Asn) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 370035829 | RCV000556556|RCV002420499|RCV003144349; | N | 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:CN517202 | 7 | 128482291 | 128482291 | | | 7:g.128482291G>A | ClinGen:CA4474611 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2130C>T (p.Asp710=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 778781499 | RCV000726273|RCV001078588|RCV002418128; | N | 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:CN230736 | 7 | 128482293 | 128482293 | | | 7:g.128482293C>T | ClinGen:CA4474612 | CN169374 not specified; | | NM_001458.5(FLNC):c.2130C>A (p.Asp710Glu) | 2318 | FLNC | Uncertain significance | 778781499 | RCV000692570; | N | MONDO:MONDO: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 | 7 | 128482293 | 128482293 | | | 7:g.128482293C>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2139C>G (p.Pro713=) | 2318 | FLNC | Likely benign | 746825094 | RCV001422426|RCV002432171; | N | 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:CN230736 | 7 | 128482302 | 128482302 | | | 128482302 | - | | | NM_001458.5(FLNC):c.2141T>C (p.Ile714Thr) | 2318 | FLNC | Uncertain significance | 1554398541 | RCV000649180; | N | 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 | 7 | 128482304 | 128482304 | | | 7:g.128482304T>C | ClinGen:CA369228648 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2142C>T (p.Ile714=) | 2318 | FLNC | Likely benign | 199595235 | RCV000544163|RCV001550238|RCV002431677; | N | 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:CN230736 | 7 | 128482305 | 128482305 | | | NC_000007.13:g.128482305C>T | ClinGen:CA4474618 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2142C>A (p.Ile714=) | 2318 | FLNC | Likely benign | 199595235 | RCV000692976|RCV002424636|RCV003150334; | N | 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|MedGen:CN230736|Human Phenotype Ontology:HP:000 | 7 | 128482305 | 128482305 | | | 7:g.128482305C>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2142C>G (p.Ile714Met) | 2318 | FLNC | Uncertain significance | 199595235 | RCV001937628; | N | 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 | 7 | 128482305 | 128482305 | | | 128482305 | - | | | NM_001458.5(FLNC):c.2145C>T (p.Asp715=) | 2318 | FLNC | Likely benign | 1585157201 | RCV001448402; | N | MONDO:MONDO: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 | 7 | 128482308 | 128482308 | | | 7:g.128482308C>T | - | | | NM_001458.5(FLNC):c.2146A>G (p.Ile716Val) | 2318 | FLNC | Uncertain significance | 1808363671 | RCV002036328; | N | 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 | 7 | 128482309 | 128482309 | | | 128482309 | - | | | NM_001458.5(FLNC):c.2148C>T (p.Ile716=) | 2318 | FLNC | Benign | -1 | RCV003024707; | N | 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 | 7 | 128482311 | 128482311 | | | | - | | | NM_001458.5(FLNC):c.2150A>T (p.Lys717Met) | 2318 | FLNC | Uncertain significance | -1 | RCV003018439; | N | 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 | 7 | 128482313 | 128482313 | | | NC_000007.13:g.128482313A>T | - | | | NM_001458.5(FLNC):c.2155A>T (p.Ile719Phe) | 2318 | FLNC | Uncertain significance | 1808363999 | RCV001303924; | N | 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 | 7 | 128482318 | 128482318 | | | 128482318 | - | | | NM_001458.5(FLNC):c.2160del (p.Asn721fs) | 2318 | FLNC | Pathogenic | -1 | RCV003055373; | N | 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 | 7 | 128482320 | 128482320 | | | NC_000007.13:g.128482323del | - | | | NM_001458.5(FLNC):c.2160C>T (p.Pro720=) | 2318 | FLNC | Likely benign | 1389842402 | RCV000649261; | N | 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 | 7 | 128482323 | 128482323 | | | 7:g.128482323C>T | ClinGen:CA457583714 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2163C>A (p.Asn721Lys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 370539335 | RCV000707251|RCV001731901|RCV002424724; | N | 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:CN517202|MedGen:CN230736 | 7 | 128482326 | 128482326 | | | 7:g.128482326C>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2163C>T (p.Asn721=) | 2318 | FLNC | Likely benign | 370539335 | RCV000955064|RCV002427390; | N | MONDO:MONDO: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 | 7 | 128482326 | 128482326 | | | 7:g.128482326C>T | - | | | NM_001458.5(FLNC):c.2164G>A (p.Gly722Ser) | 2318 | FLNC | Uncertain significance | 762248114 | RCV000794164|RCV002424804|RCV003144593; | N | 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:CN230736|MedGen:CN517202 | 7 | 128482327 | 128482327 | | | 7:g.128482327G>A | - | | | NM_001458.5(FLNC):c.2166C>T (p.Gly722=) | 2318 | FLNC | Likely benign | 1808364808 | RCV001060298; | N | 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 | 7 | 128482329 | 128482329 | | | 7:g.128482329C>T | - | | | NM_001458.5(FLNC):c.2167G>A (p.Asp723Asn) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 375414341 | RCV001227415|RCV002429966|RCV003145428; | N | 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:CN230736|MedGen:C3661900 | 7 | 128482330 | 128482330 | | | 7:g.128482330G>A | - | | | NM_001458.5(FLNC):c.2168A>T (p.Asp723Val) | 2318 | FLNC | Uncertain significance | 1808365040 | RCV001322863; | N | 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 | 7 | 128482331 | 128482331 | | | 128482331 | - | | | NM_001458.5(FLNC):c.2169C>T (p.Asp723=) | 2318 | FLNC | Likely benign | 377553322 | RCV000649231|RCV002424508; | N | 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:CN230736 | 7 | 128482332 | 128482332 | | | NC_000007.13:g.128482332C>T | ClinGen:CA4474628 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2170G>A (p.Gly724Ser) | 2318 | FLNC | Uncertain significance | 764774528 | RCV001916345|RCV002425237; | N | 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|MedGen:CN230736 | 7 | 128482333 | 128482333 | | | 128482333 | - | | | NM_001458.5(FLNC):c.2171G>A (p.Gly724Asp) | 2318 | FLNC | Uncertain significance | 1554398553 | RCV000545563; | N | 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 | 7 | 128482334 | 128482334 | | | 7:g.128482334G>A | ClinGen:CA369228902 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2171G>T (p.Gly724Val) | 2318 | FLNC | Uncertain significance | -1 | RCV002736004; | N | 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 | 7 | 128482334 | 128482334 | | | NC_000007.13:g.128482334G>T | - | | | NM_001458.5(FLNC):c.2175C>G (p.Thr725=) | 2318 | FLNC | Likely benign | 957405389 | RCV001504184; | N | MONDO:MONDO: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 | 7 | 128482338 | 128482338 | | | 128482338 | - | | | NM_001458.5(FLNC):c.2179C>T (p.Arg727Cys) | 2318 | FLNC | Uncertain significance | 752627571 | RCV001297838; | N | 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 | 7 | 128482342 | 128482342 | | | 128482342 | - | | | NM_001458.5(FLNC):c.2180G>A (p.Arg727His) | 2318 | FLNC | Benign/Likely benign | 200618242 | RCV000557981|RCV001701044|RCV001725189|RCV002431678; | N | 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:CN169374|MedGen:C3661900|MedGen:CN230736 | 7 | 128482343 | 128482343 | | | NC_000007.13:g.128482343G>A | ClinGen:CA4474631 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2188_2205del (p.Tyr730_Pro735del) | 2318 | FLNC | Uncertain significance | 2128935556 | RCV002025805; | N | 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 | 7 | 128482349 | 128482366 | | | 128482348 | - | | | NM_001458.5(FLNC):c.2189A>G (p.Tyr730Cys) | 2318 | FLNC | Uncertain significance | -1 | RCV002425527|RCV003101117; | N | MedGen: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:CN239310 | 7 | 128482352 | 128482352 | | | 128482352 | - | | | NM_001458.5(FLNC):c.2190C>T (p.Tyr730=) | 2318 | FLNC | Likely benign | 746733934 | RCV002188360|RCV002416518; | N | 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 | 7 | 128482353 | 128482353 | | | 128482353 | - | | | NM_001458.5(FLNC):c.2191G>A (p.Val731Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 757110783 | RCV001237732|RCV002430016; | N | 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 | 7 | 128482354 | 128482354 | | | 7:g.128482354G>A | - | | | NM_001458.5(FLNC):c.2194C>T (p.Pro732Ser) | 2318 | FLNC | Uncertain significance | 1562994905 | RCV000695853; | N | 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 | 7 | 128482357 | 128482357 | | | 7:g.128482357C>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2199C>G (p.Thr733=) | 2318 | FLNC | Benign/Likely benign | 200655185 | RCV000534013|RCV001697312|RCV002431679; | N | 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:CN230736 | 7 | 128482362 | 128482362 | | | 7:g.128482362C>G | ClinGen:CA4474635 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2199C>T (p.Thr733=) | 2318 | FLNC | Likely benign | 200655185 | RCV002104158; | N | 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 | 7 | 128482362 | 128482362 | | | 128482362 | - | | | NM_001458.5(FLNC):c.2201A>G (p.Lys734Arg) | 2318 | FLNC | Uncertain significance | 1585157281 | RCV000794527; | N | 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 | 7 | 128482364 | 128482364 | | | 7:g.128482364A>G | - | | | NM_001458.5(FLNC):c.2202G>C (p.Lys734Asn) | 2318 | FLNC | Uncertain significance | 769984017 | RCV001242274|RCV001556125|RCV002430028; | N | 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:CN517202|MedGen:CN230736 | 7 | 128482365 | 128482365 | | | 7:g.128482365G>C | - | | | NM_001458.5(FLNC):c.2202G>A (p.Lys734=) | 2318 | FLNC | Likely benign | 769984017 | RCV001441892|RCV002432229; | N | 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 | 7 | 128482365 | 128482365 | | | 128482365 | - | | | NM_001458.5(FLNC):c.2206A>G (p.Ile736Val) | 2318 | FLNC | Uncertain significance | 2128935565 | RCV001921900; | N | 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 | 7 | 128482369 | 128482369 | | | 128482369 | - | | | NM_001458.5(FLNC):c.2212C>G (p.His738Asp) | 2318 | FLNC | Uncertain significance | 1236577531 | RCV001206886; | N | 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 | 7 | 128482375 | 128482375 | | | 7:g.128482375C>G | - | | | NM_001458.5(FLNC):c.2212C>A (p.His738Asn) | 2318 | FLNC | Uncertain significance | -1 | RCV003333572|RCV003333570|RCV003333571; | N | 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 | 7 | 128482375 | 128482375 | | | | - | | | NM_001458.5(FLNC):c.2216C>T (p.Thr739Ile) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 749380628 | RCV001233431|RCV002429998; | N | 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:CN230736 | 7 | 128482379 | 128482379 | | | 7:g.128482379C>T | - | | | NM_001458.5(FLNC):c.2217C>T (p.Thr739=) | 2318 | FLNC | Likely benign | 1169471172 | RCV000932927; | N | 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 | 7 | 128482380 | 128482380 | | | 7:g.128482380C>T | - | | | NM_001458.5(FLNC):c.2219T>C (p.Ile740Thr) | 2318 | FLNC | Uncertain significance | 2128935573 | RCV001968633; | N | 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 | 7 | 128482382 | 128482382 | | | 128482382 | - | | | NM_001458.5(FLNC):c.2224A>G (p.Ile742Val) | 2318 | FLNC | Uncertain significance | 769224072 | RCV001242087; | N | 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 | 7 | 128482387 | 128482387 | | | 7:g.128482387A>G | - | | | NM_001458.5(FLNC):c.2228_2230del (p.Ser743del) | 2318 | FLNC | Uncertain significance | 2128935577 | RCV001985855; | N | 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 | 7 | 128482389 | 128482391 | | | 128482388 | - | | | NM_001458.5(FLNC):c.2227T>C (p.Ser743Pro) | 2318 | FLNC | Uncertain significance | -1 | RCV002625284|RCV003162076; | N | 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 | 7 | 128482390 | 128482390 | | | NC_000007.13:g.128482390T>C | - | | | NM_001458.5(FLNC):c.2234del (p.Gly745fs) | 2318 | FLNC | Pathogenic | 1374893890 | RCV001215001|RCV003151838; | N | 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:CN517202 | 7 | 128482394 | 128482394 | | | 7:g.128482394_128482394del | - | | | NM_001458.5(FLNC):c.2238C>T (p.Gly746=) | 2318 | FLNC | Likely benign | 759243298 | RCV000875609|RCV002427209; | N | 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:CN230736 | 7 | 128482401 | 128482401 | | | 7:g.128482401C>T | - | | | NM_001458.5(FLNC):c.2239G>A (p.Val747Ile) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 764876916 | RCV001237669|RCV002430014|RCV003227014; | N | 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:CN230736|MedGen:CN517202 | 7 | 128482402 | 128482402 | | | 7:g.128482402G>A | - | | | NM_001458.5(FLNC):c.2244C>T (p.Asn748=) | 2318 | FLNC | Likely benign | 752145129 | RCV001409998|RCV002416208; | N | MONDO:MONDO: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:CN230736 | 7 | 128482407 | 128482407 | | | 7:g.128482407C>T | - | | | NM_001458.5(FLNC):c.2245G>A (p.Val749Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 763901270 | RCV000807277|RCV002424880; | N | 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 | 7 | 128482408 | 128482408 | | | 7:g.128482408G>A | - | | | NM_001458.5(FLNC):c.2245G>C (p.Val749Leu) | 2318 | FLNC | Uncertain significance | 763901270 | RCV001898833; | N | 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:614065, Orphanet:63273 | 7 | 128482408 | 128482408 | | | 128482408 | - | | | NM_001458.5(FLNC):c.2246T>A (p.Val749Glu) | 2318 | FLNC | Uncertain significance | 932445396 | RCV000814812; | N | 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 | 7 | 128482409 | 128482409 | | | 7:g.128482409T>A | - | | | NM_001458.5(FLNC):c.2248C>G (p.Pro750Ala) | 2318 | FLNC | Uncertain significance | 1808369718 | RCV001341285; | N | 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 | 7 | 128482411 | 128482411 | | | 128482411 | - | | | NM_001458.5(FLNC):c.2254A>G (p.Ser752Gly) | 2318 | FLNC | Uncertain significance | -1 | RCV002842784; | N | 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 | 7 | 128482417 | 128482417 | | | NC_000007.13:g.128482417A>G | - | | | NM_001458.5(FLNC):c.2255G>A (p.Ser752Asn) | 2318 | FLNC | Uncertain significance | -1 | RCV002304288; | N | MONDO:MONDO: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 | 7 | 128482418 | 128482418 | | | 128482418 | - | | | NM_001458.5(FLNC):c.2259C>T (p.Pro753=) | 2318 | FLNC | Likely benign | 1585157340 | RCV001464964; | N | MONDO:MONDO: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 | 7 | 128482422 | 128482422 | | | 7:g.128482422C>T | - | | | NM_001458.5(FLNC):c.2263C>T (p.Arg755Trp) | 2318 | FLNC | Uncertain significance | 990718751 | RCV001373768|RCV002447494|RCV003447594; | N | 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|EFO:EFO_0000407,Human Phenotype | 7 | 128482426 | 128482426 | | | 128482426 | - | | | NM_001458.5(FLNC):c.2264G>A (p.Arg755Gln) | 2318 | FLNC | Uncertain significance | 781101985 | RCV001351954|RCV002260702|RCV003298553; | N | 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:CN517202|MedGen:CN230736 | 7 | 128482427 | 128482427 | | | 128482427 | - | | | NM_001458.5(FLNC):c.2265+1G>A | 2318 | FLNC | Likely pathogenic | 1585157354 | RCV000796331; | N | 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 | 7 | 128482429 | 128482429 | | | 7:g.128482429G>A | - | | | NM_001458.5(FLNC):c.2265+5G>A | 2318 | FLNC | Uncertain significance | 1049500135 | RCV001314276|RCV002447330; | N | 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 | 7 | 128482433 | 128482433 | | | 128482433 | - | | | NM_001458.5(FLNC):c.2265+7C>T | 2318 | FLNC | Likely benign | 1477196021 | RCV002219639; | N | 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 | 7 | 128482435 | 128482435 | | | 128482435 | - | | | NM_001458.5(FLNC):c.2265+8C>T | 2318 | FLNC | Likely benign | 1808370968 | RCV001472443; | N | 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 | 7 | 128482436 | 128482436 | | | 128482436 | - | | | NM_001458.5(FLNC):c.2265+9T>C | 2318 | FLNC | Benign | 532692123 | RCV000930132; | N | 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 | 7 | 128482437 | 128482437 | | | 7:g.128482437T>C | - | | | NM_001458.5(FLNC):c.2265+10C>A | 2318 | FLNC | Likely benign | -1 | RCV002607767; | N | 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 | 7 | 128482438 | 128482438 | | | NC_000007.13:g.128482438C>A | - | | | NM_001458.5(FLNC):c.2265+12C>G | 2318 | FLNC | Benign | 2291566 | RCV000217056|RCV002054373; | N | MedGen: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 | 7 | 128482440 | 128482440 | | | 7:g.128482440C>G | ClinGen:CA4474655 | CN169374 not specified; | | NM_001458.5(FLNC):c.2265+12C>T | 2318 | FLNC | Likely benign | 2291566 | RCV002173049; | N | 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 | 7 | 128482440 | 128482440 | | | 128482440 | - | | | NM_001458.5(FLNC):c.2265+13G>A | 2318 | FLNC | Likely benign | -1 | RCV002985380; | N | 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 | 7 | 128482441 | 128482441 | | | NC_000007.13:g.128482441G>A | - | | | NM_001458.5(FLNC):c.2265+18_2265+20del | 2318 | FLNC | Likely benign | -1 | RCV002880728; | N | 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 | 7 | 128482446 | 128482448 | | | NC_000007.13:g.128482446_128482448del | - | | | NM_001458.5(FLNC):c.2265+18G>A | 2318 | FLNC | Likely benign | -1 | RCV002922446; | N | 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 | 7 | 128482446 | 128482446 | | | NC_000007.13:g.128482446G>A | - | | | NM_001458.5(FLNC):c.2266-14G>C | 2318 | FLNC | Benign | 75612085 | RCV000243348|RCV001705354|RCV002058051; | N | MedGen: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 | 7 | 128482615 | 128482615 | | | NC_000007.13:g.128482615G>C | ClinGen:CA4474671 | CN169374 not specified; | | NM_001458.5(FLNC):c.2266-12C>T | 2318 | FLNC | Likely benign | 761615639 | RCV002116955; | N | 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 | 7 | 128482617 | 128482617 | | | 128482617 | - | | | NM_001458.5(FLNC):c.2266-11C>T | 2318 | FLNC | Likely benign | 1201885833 | RCV002180588; | N | 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 | 7 | 128482618 | 128482618 | | | 128482618 | - | | | NM_001458.5(FLNC):c.2266-5C>T | 2318 | FLNC | Likely benign | 371960827 | RCV000916785|RCV001597234|RCV002445016; | N | 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:CN517202|MedGen:CN230736 | 7 | 128482624 | 128482624 | | | 7:g.128482624C>T | - | | | NM_001458.5(FLNC):c.2266-4G>A | 2318 | FLNC | Likely benign | 371719048 | RCV001495265|RCV002449309; | N | 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:CN230736 | 7 | 128482625 | 128482625 | | | 128482625 | - | | | NM_001458.5(FLNC):c.2266-3C>T | 2318 | FLNC | Benign/Likely benign | 369153392 | RCV000551023|RCV001722505|RCV002448760; | N | 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:CN230736 | 7 | 128482626 | 128482626 | | | NC_000007.13:g.128482626C>T | ClinGen:CA4474675 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2271C>T (p.Asn757=) | 2318 | FLNC | Benign | -1 | RCV003078996; | N | 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 | 7 | 128482634 | 128482634 | | | | - | | | NM_001458.5(FLNC):c.2272G>A (p.Val758Met) | 2318 | FLNC | Uncertain significance | 371418145 | RCV000998911|RCV001049542|RCV002445155; | N | MedGen: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 | 7 | 128482635 | 128482635 | | | 7:g.128482635G>A | - | | | NM_001458.5(FLNC):c.2277C>T (p.Gly759=) | 2318 | FLNC | Benign | 534989876 | RCV000558317; | N | 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 | 7 | 128482640 | 128482640 | | | 7:g.128482640C>T | ClinGen:CA166175021 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2278G>A (p.Glu760Lys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 772574007 | RCV000649182|RCV002470941|RCV003144444; | N | 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|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047 | 7 | 128482641 | 128482641 | | | 7:g.128482641G>A | ClinGen:CA4474678 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2281G>A (p.Gly761Ser) | 2318 | FLNC | Uncertain significance | 374691339 | RCV000818898|RCV003145198; | N | 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:CN517202 | 7 | 128482644 | 128482644 | | | 7:g.128482644G>A | - | | | NM_001458.5(FLNC):c.2286C>G (p.Ser762Arg) | 2318 | FLNC | Uncertain significance | 1160582987 | RCV001971109; | N | 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 | 7 | 128482649 | 128482649 | | | 128482649 | - | | | NM_001458.5(FLNC):c.2287C>T (p.His763Tyr) | 2318 | FLNC | Uncertain significance | 1380984220 | RCV000806965|RCV003362959; | N | 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|MeSH:D030342,MedGen:C0950123 | 7 | 128482650 | 128482650 | | | 7:g.128482650C>T | - | | | NM_001458.5(FLNC):c.2292C>T (p.Pro764=) | 2318 | FLNC | Likely benign | 369916201 | RCV000248097|RCV000649252|RCV001702389|RCV002446485; | N | MedGen: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:CN230736 | 7 | 128482655 | 128482655 | | | 7:g.128482655C>T | ClinGen:CA4474680 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2293G>A (p.Glu765Lys) | 2318 | FLNC | Uncertain significance | 373798394 | RCV000488406|RCV000800991|RCV002455942; | N | 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:63273|MedGen:CN230736 | 7 | 128482656 | 128482656 | | | 7:g.128482656G>A | ClinGen:CA4474681 | CN517202 not provided; | | NM_001458.5(FLNC):c.2296C>T (p.Arg766Trp) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 200215340 | RCV000534354|RCV002497174|RCV001564850|RCV002448761; | N | 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:C3279722,OMIM:614065 | 7 | 128482659 | 128482659 | | | 7:g.128482659C>T | ClinGen:CA4474682 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2297G>A (p.Arg766Gln) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 369935650 | RCV000551390|RCV003144350|RCV002491078|RCV002456210|RCV002272283; | N | 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:C3661900|MONDO:MONDO:0013550,MedGen:C327 | 7 | 128482660 | 128482660 | | | 7:g.128482660G>A | ClinGen:CA4474683 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2299del (p.Arg766_Val767insTer) | 2318 | FLNC | Pathogenic | 2128935670 | RCV001875665; | N | 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 | 7 | 128482660 | 128482660 | | | 128482659 | - | | | NM_001458.5(FLNC):c.2305G>T (p.Val769Leu) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1046022647 | RCV000649099|RCV003144436|RCV003303060; | N | 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:CN517202|MedGen:CN230736 | 7 | 128482668 | 128482668 | | | NC_000007.13:g.128482668G>T | ClinGen:CA166175076 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2307G>A (p.Val769=) | 2318 | FLNC | Likely benign | 906089015 | RCV000929354|RCV002445048|RCV002489235; | N | 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|MONDO:MONDO:0012289,MedGen:C183 | 7 | 128482670 | 128482670 | | | 7:g.128482670G>A | - | | | NM_001458.5(FLNC):c.2310C>T (p.Tyr770=) | 2318 | FLNC | Likely benign | 374087953 | RCV000649208|RCV002424507; | N | 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:CN230736 | 7 | 128482673 | 128482673 | | | 7:g.128482673C>T | ClinGen:CA4474684 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2311G>A (p.Gly771Ser) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1031265089 | RCV001315777|RCV002499610|RCV003145558; | N | 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:C1836050,OMIM:609524 | 7 | 128482674 | 128482674 | | | 128482674 | - | | | NM_001458.5(FLNC):c.2316C>T (p.Pro772=) | 2318 | FLNC | Likely benign | 377595203 | RCV001450254|RCV002427448; | N | 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 | 7 | 128482679 | 128482679 | | | 7:g.128482679C>T | - | | | NM_001458.5(FLNC):c.2316C>G (p.Pro772=) | 2318 | FLNC | Likely benign | 377595203 | RCV001500687; | N | 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 | 7 | 128482679 | 128482679 | | | 128482679 | - | | | NM_001458.5(FLNC):c.2317G>A (p.Gly773Arg) | 2318 | FLNC | Uncertain significance | 1322212555 | RCV000795466|RCV002442633; | N | 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:CN230736 | 7 | 128482680 | 128482680 | | | 7:g.128482680G>A | - | | | NM_001458.5(FLNC):c.2321T>C (p.Val774Ala) | 2318 | FLNC | Uncertain significance | 1808383222 | RCV001320013; | N | 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 | 7 | 128482684 | 128482684 | | | 128482684 | - | | | NM_001458.5(FLNC):c.2322G>A (p.Val774=) | 2318 | FLNC | Likely benign | 2128935682 | RCV001395185; | N | 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 | 7 | 128482685 | 128482685 | | | 128482685 | - | | | NM_001458.5(FLNC):c.2329A>G (p.Thr777Ala) | 2318 | FLNC | Likely benign | 1220603614 | RCV001302826; | N | 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 | 7 | 128482692 | 128482692 | | | 128482692 | - | | | NM_001458.5(FLNC):c.2331A>G (p.Thr777=) | 2318 | FLNC | Likely benign | 1585157630 | RCV001436417; | N | 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 | 7 | 128482694 | 128482694 | | | 7:g.128482694A>G | - | | | NM_001458.5(FLNC):c.2335C>T (p.Leu779Phe) | 2318 | FLNC | Uncertain significance | 2128935691 | RCV002049024; | N | 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 | 7 | 128482698 | 128482698 | | | 128482698 | - | | | NM_001458.5(FLNC):c.2344A>G (p.Asn782Asp) | 2318 | FLNC | Uncertain significance | 1055062421 | RCV001969206; | N | 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 | 7 | 128482707 | 128482707 | | | 128482707 | - | | | NM_001458.5(FLNC):c.2345A>G (p.Asn782Ser) | 2318 | FLNC | Uncertain significance | 767436158 | RCV001971696|RCV003170315; | N | 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 | 7 | 128482708 | 128482708 | | | 128482708 | - | | | NM_001458.5(FLNC):c.2351C>G (p.Pro784Arg) | 2318 | FLNC | Uncertain significance | 2128935692 | RCV001898730; | N | 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 | 7 | 128482714 | 128482714 | | | 128482714 | - | | | NM_001458.5(FLNC):c.2353A>G (p.Thr785Ala) | 2318 | FLNC | Uncertain significance | 1808384296 | RCV001241968; | N | 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 | 7 | 128482716 | 128482716 | | | 7:g.128482716A>G | - | | | NM_001458.5(FLNC):c.2359T>C (p.Phe787Leu) | 2318 | FLNC | Uncertain significance | -1 | RCV002632093; | N | 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 | 7 | 128482722 | 128482722 | | | NC_000007.13:g.128482722T>C | - | | | NM_001458.5(FLNC):c.2360T>C (p.Phe787Ser) | 2318 | FLNC | Uncertain significance | 760513917 | RCV001985318; | N | 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 | 7 | 128482723 | 128482723 | | | 128482723 | - | | | NM_001458.5(FLNC):c.2361C>G (p.Phe787Leu) | 2318 | FLNC | Uncertain significance | 1471063024 | RCV001225706|RCV002447131; | N | 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:CN230736 | 7 | 128482724 | 128482724 | | | 7:g.128482724C>G | - | | | NM_001458.5(FLNC):c.2363C>G (p.Thr788Arg) | 2318 | FLNC | Uncertain significance | 1010774264 | RCV001321051; | N | 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 | 7 | 128482726 | 128482726 | | | 128482726 | - | | | NM_001458.5(FLNC):c.2363C>T (p.Thr788Met) | 2318 | FLNC | Uncertain significance | 1010774264 | RCV001313475; | N | 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 | 7 | 128482726 | 128482726 | | | 128482726 | - | | | NM_001458.5(FLNC):c.2364G>A (p.Thr788=) | 2318 | FLNC | Likely benign | 1020284790 | RCV000527364|RCV002448762; | N | 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:CN230736 | 7 | 128482727 | 128482727 | | | 7:g.128482727G>A | ClinGen:CA166175183 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2364G>C (p.Thr788=) | 2318 | FLNC | Likely benign | -1 | RCV003066614; | N | 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 | 7 | 128482727 | 128482727 | | | | - | | | NM_001458.5(FLNC):c.2375G>T (p.Ser792Ile) | 2318 | FLNC | Uncertain significance | 1227658348 | RCV001058110; | N | 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 | 7 | 128482738 | 128482738 | | | 7:g.128482738G>T | - | | | NM_001458.5(FLNC):c.2376C>T (p.Ser792=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 754097557 | RCV000649092|RCV002485457; | N | 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|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047 | 7 | 128482739 | 128482739 | | | 7:g.128482739C>T | ClinGen:CA4474691 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2377G>A (p.Glu793Lys) | 2318 | FLNC | Likely benign | 187143486 | RCV000649058; | N | 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 | 7 | 128482740 | 128482740 | | | 7:g.128482740G>A | ClinGen:CA4474692 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2380G>A (p.Ala794Thr) | 2318 | FLNC | Uncertain significance | 1198975298 | RCV000706336; | N | 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 | 7 | 128482743 | 128482743 | | | NC_000007.13:g.128482743G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2382G>A (p.Ala794=) | 2318 | FLNC | Benign/Likely benign | 536456072 | RCV000711678|RCV001087260|RCV002456211; | N | 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:171445|MedGen:CN230736 | 7 | 128482745 | 128482745 | | | 7:g.128482745G>A | ClinGen:CA4474693 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2382G>C (p.Ala794=) | 2318 | FLNC | Likely benign | 536456072 | RCV001490252; | N | 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:614065, Orphanet:63273 | 7 | 128482745 | 128482745 | | | 128482745 | - | | | NM_001458.5(FLNC):c.2385del (p.Gln796fs) | 2318 | FLNC | Pathogenic | -1 | RCV003036479; | N | 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 | 7 | 128482745 | 128482745 | | | NC_000007.13:g.128482748del | - | | | NM_001458.5(FLNC):c.2383G>A (p.Gly795Arg) | 2318 | FLNC | Uncertain significance | 1196887010 | RCV001936309; | N | 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:614065, Orphanet:63273 | 7 | 128482746 | 128482746 | | | 128482746 | - | | | NM_001458.5(FLNC):c.2385G>T (p.Gly795=) | 2318 | FLNC | Likely benign | 758439866 | RCV002217014|RCV003161421; | N | 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:CN230736 | 7 | 128482748 | 128482748 | | | 128482748 | - | | | NM_001458.5(FLNC):c.2389+1G>T | 2318 | FLNC | Pathogenic | -1 | RCV003063934; | N | 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 | 7 | 128482753 | 128482753 | | | NC_000007.13:g.128482753G>T | - | | | NM_001458.5(FLNC):c.2389+2T>C | 2318 | FLNC | Pathogenic | 112903432 | RCV000689984; | N | 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 | 7 | 128482754 | 128482754 | | | 7:g.128482754T>C | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2389+4C>T | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1057523921 | RCV000436366|RCV001054428|RCV003168695; | N | MedGen: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:CN230736 | 7 | 128482756 | 128482756 | | | 7:g.128482756C>T | ClinGen:CA16605041 | CN169374 not specified; | | NM_001458.5(FLNC):c.2389+5G>A | 2318 | FLNC | Uncertain significance | 901857994 | RCV001243202; | N | 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 | 7 | 128482757 | 128482757 | | | 7:g.128482757G>A | - | | | NM_001458.5(FLNC):c.2389+12C>T | 2318 | FLNC | Benign/Likely benign | 370526829 | RCV000252050|RCV000840693|RCV002058052; | N | MedGen: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 | 7 | 128482764 | 128482764 | | | NC_000007.13:g.128482764C>T | ClinGen:CA4474697 | CN169374 not specified; | | NM_001458.5(FLNC):c.2389+13G>A | 2318 | FLNC | Likely benign | 757608760 | RCV002140444; | N | 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 | 7 | 128482765 | 128482765 | | | 128482765 | - | | | NM_001458.5(FLNC):c.2389+14G>T | 2318 | FLNC | Uncertain significance | 2128935710 | RCV001957961; | N | 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 | 7 | 128482766 | 128482766 | | | 128482766 | - | | | NM_001458.5(FLNC):c.2389+17G>A | 2318 | FLNC | Likely benign | -1 | RCV003092271; | N | 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 | 7 | 128482769 | 128482769 | | | NC_000007.13:g.128482769G>A | - | | | NM_001458.5(FLNC):c.2389+18G>A | 2318 | FLNC | Uncertain significance | -1 | RCV003091170; | N | 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 | 7 | 128482770 | 128482770 | | | NC_000007.13:g.128482770G>A | - | | | NM_001458.5(FLNC):c.2389+19G>T | 2318 | FLNC | Uncertain significance | 1359230020 | RCV001874178; | N | MONDO:MONDO: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 | 7 | 128482771 | 128482771 | | | 128482771 | - | | | NM_001458.5(FLNC):c.2390-18G>C | 2318 | FLNC | Likely benign | -1 | RCV002615386; | N | 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 | 7 | 128482830 | 128482830 | | | NC_000007.13:g.128482830G>C | - | | | NM_001458.5(FLNC):c.2390-14C>T | 2318 | FLNC | Benign | 71581921 | RCV000248477|RCV001573964|RCV002058054|RCV002500883; | N | MedGen: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:001 | 7 | 128482834 | 128482834 | | | 7:g.128482834C>T | ClinGen:CA4474714 | CN169374 not specified; | | NM_001458.5(FLNC):c.2390-13C>T | 2318 | FLNC | Benign | 78086167 | RCV000243934|RCV001795442|RCV002058053; | N | MedGen: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 | 7 | 128482835 | 128482835 | | | 7:g.128482835C>T | ClinGen:CA4474715 | CN169374 not specified; | | NM_001458.5(FLNC):c.2390-13C>G | 2318 | FLNC | Likely benign | 78086167 | RCV002155078; | N | 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 | 7 | 128482835 | 128482835 | | | 128482835 | - | | | NM_001458.5(FLNC):c.2390-10_2406del | 2318 | FLNC | Pathogenic | 1554398674 | RCV000541523|RCV001591309; | N | 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:CN517202 | 7 | 128482836 | 128482862 | | | NC_000007.13:g.128482838_128482864del | ClinGen:CA658657718 | | | NM_001458.5(FLNC):c.2390-12G>A | 2318 | FLNC | Likely benign | 374233889 | RCV001592329|RCV002072347; | N | MedGen: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 | 7 | 128482836 | 128482836 | | | 128482836 | - | | | NM_001458.5(FLNC):c.2390-9T>C | 2318 | FLNC | Benign/Likely benign | 368068407 | RCV000528872|RCV000606796|RCV001083797|RCV002476182; | N | MedGen: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:001 | 7 | 128482839 | 128482839 | | | 7:g.128482839T>C | ClinGen:CA4474718 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2390-8C>G | 2318 | FLNC | Conflicting interpretations of pathogenicity | 146063718 | RCV000407717|RCV000725996|RCV001087652|RCV003150153; | N | MedGen: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 Phenotype | 7 | 128482840 | 128482840 | | | 7:g.128482840C>G | ClinGen:CA4474719 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2390-6C>T | 2318 | FLNC | Likely benign | 1585157852 | RCV000826950|RCV002067429; | N | 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:63273 | 7 | 128482842 | 128482842 | | | 7:g.128482842C>T | - | | | NM_001458.5(FLNC):c.2391C>A (p.Gly797=) | 2318 | FLNC | Likely benign | 374768092 | RCV000609525|RCV002063144|RCV002456338; | N | MedGen: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:CN230736 | 7 | 128482849 | 128482849 | | | 7:g.128482849C>A | ClinGen:CA4474722 | CN169374 not specified; | | NM_001458.5(FLNC):c.2391C>T (p.Gly797=) | 2318 | FLNC | Likely benign | 374768092 | RCV000690647|RCV002458227; | N | 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:CN230736 | 7 | 128482849 | 128482849 | | | 7:g.128482849C>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2392G>A (p.Asp798Asn) | 2318 | FLNC | Benign/Likely benign | 778594252 | RCV000541324|RCV001707736|RCV002456212; | N | 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:CN517202|MedGen:CN230736 | 7 | 128482850 | 128482850 | | | 7:g.128482850G>A | ClinGen:CA4474723 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2392G>T (p.Asp798Tyr) | 2318 | FLNC | Uncertain significance | 778594252 | RCV001066585; | N | 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 | 7 | 128482850 | 128482850 | | | 7:g.128482850G>T | - | | | NM_001458.5(FLNC):c.2394C>T (p.Asp798=) | 2318 | FLNC | Likely benign | 747802743 | RCV000553232|RCV003352922; | N | 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:CN230736 | 7 | 128482852 | 128482852 | | | 7:g.128482852C>T | ClinGen:CA4474724 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2395G>A (p.Val799Met) | 2318 | FLNC | Uncertain significance | 1345929888 | RCV001042353; | N | 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 | 7 | 128482853 | 128482853 | | | 7:g.128482853G>A | - | | | NM_001458.5(FLNC):c.2400C>A (p.Ser800Arg) | 2318 | FLNC | Uncertain significance | 748717566 | RCV001914705|RCV002458709; | N | 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:614065, Orphanet:63273|MedGen:CN230736 | 7 | 128482858 | 128482858 | | | 128482858 | - | | | NM_001458.5(FLNC):c.2403C>T (p.Ile801=) | 2318 | FLNC | Likely benign | 369234137 | RCV000874007|RCV002427197; | N | 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 | 7 | 128482861 | 128482861 | | | 7:g.128482861C>T | - | | | NM_001458.5(FLNC):c.2403C>A (p.Ile801=) | 2318 | FLNC | Likely benign | 369234137 | RCV002083076; | N | 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 | 7 | 128482861 | 128482861 | | | 128482861 | - | | | NM_001458.5(FLNC):c.2404G>A (p.Gly802Ser) | 2318 | FLNC | Uncertain significance | 371398126 | RCV000529237|RCV002448763|RCV002476183|RCV003144351; | N | 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:CN230736|MONDO:MONDO:0012289,MedGen:C183 | 7 | 128482862 | 128482862 | | | 7:g.128482862G>A | ClinGen:CA4474727 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2404G>C (p.Gly802Arg) | 2318 | FLNC | Uncertain significance | -1 | RCV002988386; | N | 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 | 7 | 128482862 | 128482862 | | | NC_000007.13:g.128482862G>C | - | | | NM_001458.5(FLNC):c.2406C>T (p.Gly802=) | 2318 | FLNC | Likely benign | 770943809 | RCV001319508; | N | 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 | 7 | 128482864 | 128482864 | | | 128482864 | - | | | NM_001458.5(FLNC):c.2413T>C (p.Cys805Arg) | 2318 | FLNC | Uncertain significance | -1 | RCV002742002; | N | 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 | 7 | 128482871 | 128482871 | | | NC_000007.13:g.128482871T>C | - | | | NM_001458.5(FLNC):c.2415C>T (p.Cys805=) | 2318 | FLNC | Likely benign | 376800693 | RCV000253464|RCV000945628|RCV002450773; | N | MedGen: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:CN230736 | 7 | 128482873 | 128482873 | | | 7:g.128482873C>T | ClinGen:CA4474729 | CN169374 not specified; | | NM_001458.5(FLNC):c.2416G>A (p.Ala806Thr) | 2318 | FLNC | Uncertain significance | 1386986739 | RCV001346860|RCV003145598; | N | 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:CN517202 | 7 | 128482874 | 128482874 | | | 128482874 | - | | | NM_001458.5(FLNC):c.2416G>C (p.Ala806Pro) | 2318 | FLNC | Uncertain significance | -1 | RCV002938985; | N | 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 | 7 | 128482874 | 128482874 | | | NC_000007.13:g.128482874G>C | - | | | NM_001458.5(FLNC):c.2417C>A (p.Ala806Asp) | 2318 | FLNC | Uncertain significance | -1 | RCV003059187; | N | 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 | 7 | 128482875 | 128482875 | | | NC_000007.13:g.128482875C>A | - | | | NM_001458.5(FLNC):c.2419C>T (p.Pro807Ser) | 2318 | FLNC | Uncertain significance | 946201226 | RCV000796399|RCV001266654|RCV002442636|RCV002466586; | N | 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|MeSH:D030342,MedGen:C0950123|MedGen:CN230736|Me | 7 | 128482877 | 128482877 | | | 7:g.128482877C>T | - | | | NM_001458.5(FLNC):c.2421A>G (p.Pro807=) | 2318 | FLNC | Likely benign | 1585157908 | RCV001494405; | N | 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 | 7 | 128482879 | 128482879 | | | 7:g.128482879A>G | - | | | NM_001458.5(FLNC):c.2424C>T (p.Gly808=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 764991202 | RCV001370556|RCV002476691|RCV003298609; | N | 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:0013550,MedGen:C3279722,OMIM:614065 | 7 | 128482882 | 128482882 | | | 128482882 | - | | | NM_001458.5(FLNC):c.2426TGG[1] (p.Val810del) | 2318 | FLNC | Uncertain significance | 1585157919 | RCV000792677; | N | 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 | 7 | 128482883 | 128482885 | | | 7:g.128482883_128482885del | - | | | NM_001458.5(FLNC):c.2425G>A (p.Val809Met) | 2318 | FLNC | Uncertain significance | 775770671 | RCV001248674|RCV001700725|RCV002447232; | N | 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:CN517202|MedGen:CN230736 | 7 | 128482883 | 128482883 | | | 7:g.128482883G>A | - | | | NM_001458.5(FLNC):c.2427G>T (p.Val809=) | 2318 | FLNC | Likely benign | 901910589 | RCV002094536; | N | 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 | 7 | 128482885 | 128482885 | | | 128482885 | - | | | NM_001458.5(FLNC):c.2428G>C (p.Val810Leu) | 2318 | FLNC | Uncertain significance | 763153223 | RCV001319078; | N | 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 | 7 | 128482886 | 128482886 | | | 128482886 | - | | | NM_001458.5(FLNC):c.2432del (p.Gly811fs) | 2318 | FLNC | Pathogenic | 776269505 | RCV001204082; | N | 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 | 7 | 128482888 | 128482888 | | | 7:g.128482888_128482888del | - | | | NM_001458.5(FLNC):c.2433C>A (p.Gly811=) | 2318 | FLNC | Likely benign | -1 | RCV003015378; | N | 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 | 7 | 128482891 | 128482891 | | | | - | | | NM_001458.5(FLNC):c.2434C>T (p.Pro812Ser) | 2318 | FLNC | Uncertain significance | 1808396338 | RCV001308172; | N | 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 | 7 | 128482892 | 128482892 | | | 128482892 | - | | | NM_001458.5(FLNC):c.2450T>C (p.Ile817Thr) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 200653747 | RCV000221213|RCV000541682|RCV002500712|RCV003441792; | N | 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|MONDO:MONDO:0012289,MedGen:C183 | 7 | 128482908 | 128482908 | | | NC_000007.13:g.128482908T>C | ClinGen:CA4474736 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2454C>T (p.Asp818=) | 2318 | FLNC | Likely benign | 2128935767 | RCV001415587; | N | 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 | 7 | 128482912 | 128482912 | | | 128482912 | - | | | NM_001458.5(FLNC):c.2457C>T (p.Phe819=) | 2318 | FLNC | Likely benign | 761900404 | RCV000554179|RCV002431680; | N | 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:CN230736 | 7 | 128482915 | 128482915 | | | 7:g.128482915C>T | ClinGen:CA4474737 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2458G>A (p.Asp820Asn) | 2318 | FLNC | Uncertain significance | 965901086 | RCV001208600|RCV002447069; | N | 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:CN230736 | 7 | 128482916 | 128482916 | | | 7:g.128482916G>A | - | | | NM_001458.5(FLNC):c.2459A>T (p.Asp820Val) | 2318 | FLNC | Uncertain significance | 886044638 | RCV000403726|RCV001201727|RCV002429239; | N | MedGen: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 | 7 | 128482917 | 128482917 | | | 7:g.128482917A>T | ClinGen:CA10607003 | CN169374 not specified; | | NM_001458.5(FLNC):c.2460C>T (p.Asp820=) | 2318 | FLNC | Likely benign | -1 | RCV002579391; | N | 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 | 7 | 128482918 | 128482918 | | | | - | | | NM_001458.5(FLNC):c.2463C>A (p.Ile821=) | 2318 | FLNC | Likely benign | -1 | RCV002731362; | N | 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 | 7 | 128482921 | 128482921 | | | | - | | | NM_001458.5(FLNC):c.2466C>T (p.Ile822=) | 2318 | FLNC | Likely benign | 1349110023 | RCV000894781|RCV002444986; | N | 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:CN230736 | 7 | 128482924 | 128482924 | | | 7:g.128482924C>T | - | | | NM_001458.5(FLNC):c.2469G>A (p.Lys823=) | 2318 | FLNC | Likely benign | -1 | RCV002599745; | N | 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 | 7 | 128482927 | 128482927 | | | | - | | | NM_001458.5(FLNC):c.2470A>T (p.Asn824Tyr) | 2318 | FLNC | Uncertain significance | 1562995383 | RCV000702724|RCV002458290; | N | 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:CN230736 | 7 | 128482928 | 128482928 | | | NC_000007.13:g.128482928A>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2476_2478del (p.Asn826del) | 2318 | FLNC | Uncertain significance | 1188205440 | RCV001904740; | N | 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 | 7 | 128482932 | 128482934 | | | 128482931 | - | | | NM_001458.5(FLNC):c.2474A>G (p.Asp825Gly) | 2318 | FLNC | Uncertain significance | 559621589 | RCV002041740; | N | 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 | 7 | 128482932 | 128482932 | | | 128482932 | - | | | NM_001458.5(FLNC):c.2478C>T (p.Asn826=) | 2318 | FLNC | Likely benign | 756475814 | RCV001477389|RCV002449267; | N | 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|MedGen:CN230736 | 7 | 128482936 | 128482936 | | | 128482936 | - | | | NM_001458.5(FLNC):c.2485T>G (p.Phe829Val) | 2318 | FLNC | Uncertain significance | 758056957 | RCV001197617|RCV002480648; | N | 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:617047, Orphanet:75249 | 7 | 128482943 | 128482943 | | | 7:g.128482943T>G | - | | | NM_001458.5(FLNC):c.2489C>T (p.Thr830Ile) | 2318 | FLNC | Uncertain significance | 1367245869 | RCV001368614|RCV002462965; | N | 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:C3661900 | 7 | 128482947 | 128482947 | | | 128482947 | - | | | NM_001458.5(FLNC):c.2490C>T (p.Thr830=) | 2318 | FLNC | Likely benign | 777580254 | RCV000430836|RCV000530776|RCV001702775|RCV002429409; | N | MedGen: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:CN230736 | 7 | 128482948 | 128482948 | | | 7:g.128482948C>T | ClinGen:CA4474744 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2491G>A (p.Val831Ile) | 2318 | FLNC | Uncertain significance | 746478952 | RCV000649170|RCV001701427|RCV002424506; | N | 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:CN517202|MedGen:CN230736 | 7 | 128482949 | 128482949 | | | NC_000007.13:g.128482949G>A | ClinGen:CA4474745 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2494A>C (p.Lys832Gln) | 2318 | FLNC | Uncertain significance | 2128935786 | RCV001874050; | N | 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 | 7 | 128482952 | 128482952 | | | 128482952 | - | | | NM_001458.5(FLNC):c.2499C>A (p.Tyr833Ter) | 2318 | FLNC | Pathogenic | 1389742580 | RCV001384831|RCV002432069; | N | 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:CN230736 | 7 | 128482957 | 128482957 | | | 128482957 | - | | | NM_001458.5(FLNC):c.2500A>G (p.Thr834Ala) | 2318 | FLNC | Uncertain significance | 781169622 | RCV000810577|RCV002487760|RCV003307503; | N | 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:C4310749,OMIM:617047 | 7 | 128482958 | 128482958 | | | 7:g.128482958A>G | - | | | NM_001458.5(FLNC):c.2501C>T (p.Thr834Met) | 2318 | FLNC | Benign/Likely benign | 75133741 | RCV000117068|RCV000543247|RCV001573114|RCV002453429; | N | MedGen: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:CN230736 | 7 | 128482959 | 128482959 | | | 7:g.128482959C>T | ClinGen:CA152841 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2502G>A (p.Thr834=) | 2318 | FLNC | Likely benign | 984526805 | RCV002077385; | N | MONDO:MONDO: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 | 7 | 128482960 | 128482960 | | | 128482960 | - | | | NM_001458.5(FLNC):c.2507del (p.Pro836fs) | 2318 | FLNC | Pathogenic | 1808400111 | RCV001063821; | N | 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 | 7 | 128482964 | 128482964 | | | 7:g.128482964_128482964del | - | | | NM_001458.5(FLNC):c.2506C>T (p.Pro836Ser) | 2318 | FLNC | Uncertain significance | 1422445527 | RCV001980790|RCV002458950; | N | 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:614065, Orphanet:63273|MedGen:CN230736 | 7 | 128482964 | 128482964 | | | 128482964 | - | | | NM_001458.5(FLNC):c.2507C>A (p.Pro836Gln) | 2318 | FLNC | Benign/Likely benign | 199652368 | RCV000560197|RCV001704387|RCV001821193|RCV002429416; | N | 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:CN169374|MedGen:CN230736 | 7 | 128482965 | 128482965 | | | 7:g.128482965C>A | ClinGen:CA4474748 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2507C>T (p.Pro836Leu) | 2318 | FLNC | Uncertain significance | 199652368 | RCV001984505; | N | 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 | 7 | 128482965 | 128482965 | | | 128482965 | - | | | NM_001458.5(FLNC):c.2508del (p.Ala838fs) | 2318 | FLNC | Pathogenic | 1808400430 | RCV001231735; | N | 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 | 7 | 128482966 | 128482966 | | | 7:g.128482966_128482966del | - | | | NM_001458.5(FLNC):c.2508A>G (p.Pro836=) | 2318 | FLNC | Likely benign | -1 | RCV002700271; | N | 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 | 7 | 128482966 | 128482966 | | | | - | | | NM_001458.5(FLNC):c.2512G>A (p.Ala838Thr) | 2318 | FLNC | Uncertain significance | 1808400610 | RCV001060307; | N | 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 | 7 | 128482970 | 128482970 | | | 7:g.128482970G>A | - | | | NM_001458.5(FLNC):c.2513C>T (p.Ala838Val) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 775085661 | RCV000821076|RCV002427057; | N | 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 | 7 | 128482971 | 128482971 | | | 7:g.128482971C>T | - | | | NM_001458.5(FLNC):c.2513C>G (p.Ala838Gly) | 2318 | FLNC | Uncertain significance | -1 | RCV003083079; | N | 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 | 7 | 128482971 | 128482971 | | | NC_000007.13:g.128482971C>G | - | | | NM_001458.5(FLNC):c.2514G>A (p.Ala838=) | 2318 | FLNC | Likely benign | 762824697 | RCV002106603; | N | 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 | 7 | 128482972 | 128482972 | | | 128482972 | - | | | NM_001458.5(FLNC):c.2516G>A (p.Gly839Asp) | 2318 | FLNC | Uncertain significance | 940353148 | RCV001732627|RCV001882800|RCV002425034|RCV003407781; | N | MedGen: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| | 7 | 128482974 | 128482974 | | | 128482974 | - | | | NM_001458.5(FLNC):c.2518C>T (p.Arg840Cys) | 2318 | FLNC | Uncertain significance | 373514748 | RCV001212917|RCV003145392; | N | 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:CN517202 | 7 | 128482976 | 128482976 | | | 7:g.128482976C>T | - | | | NM_001458.5(FLNC):c.2519G>A (p.Arg840His) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 376472014 | RCV001038667|RCV002427490|RCV002481866; | N | 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|MedGen:CN230736|MONDO:MONDO:0013550,MedGen:C327 | 7 | 128482977 | 128482977 | | | 7:g.128482977G>A | - | | | NM_001458.5(FLNC):c.2521T>C (p.Tyr841His) | 2318 | FLNC | Uncertain significance | 2128935808 | RCV001928588; | N | 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 | 7 | 128482979 | 128482979 | | | 128482979 | - | | | NM_001458.5(FLNC):c.2526C>T (p.Thr842=) | 2318 | FLNC | Likely benign | 750927692 | RCV002213733; | N | 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 | 7 | 128482984 | 128482984 | | | 128482984 | - | | | NM_001458.5(FLNC):c.2527A>T (p.Ile843Phe) | 2318 | FLNC | Uncertain significance | 973425855 | RCV001237701; | N | 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 | 7 | 128482985 | 128482985 | | | 7:g.128482985A>T | - | | | NM_001458.5(FLNC):c.2538G>A (p.Leu846=) | 2318 | FLNC | Likely benign | 766913091 | RCV001474317; | N | 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 | 7 | 128482996 | 128482996 | | | 128482996 | - | | | NM_001458.5(FLNC):c.2539T>C (p.Phe847Leu) | 2318 | FLNC | Uncertain significance | -1 | RCV002720940; | N | 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 | 7 | 128482997 | 128482997 | | | NC_000007.13:g.128482997T>C | - | | | NM_001458.5(FLNC):c.2542G>A (p.Ala848Thr) | 2318 | FLNC | Uncertain significance | -1 | RCV002766586; | N | 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 | 7 | 128483000 | 128483000 | | | NC_000007.13:g.128483000G>A | - | | | NM_001458.5(FLNC):c.2546A>G (p.Asn849Ser) | 2318 | FLNC | Uncertain significance | 755425307 | RCV000701522; | N | 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 | 7 | 128483004 | 128483004 | | | NC_000007.13:g.128483004A>G | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2546A>T (p.Asn849Ile) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 755425307 | RCV001066544|RCV003145333; | N | 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:CN517202 | 7 | 128483004 | 128483004 | | | 7:g.128483004A>T | - | | | NM_001458.5(FLNC):c.2548C>T (p.Gln850Ter) | 2318 | FLNC | Pathogenic | 1367760687 | RCV001387665; | N | 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 | 7 | 128483006 | 128483006 | | | 128483006 | - | | | NM_001458.5(FLNC):c.2550G>A (p.Gln850=) | 2318 | FLNC | Uncertain significance | 1585158097 | RCV000794602; | N | 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 | 7 | 128483008 | 128483008 | | | 7:g.128483008G>A | - | | | NM_001458.5(FLNC):c.2550+1G>C | 2318 | FLNC | Likely pathogenic | -1 | RCV003045646; | N | 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 | 7 | 128483009 | 128483009 | | | NC_000007.13:g.128483009G>C | - | | | NM_001458.5(FLNC):c.2550+2T>C | 2318 | FLNC | Likely pathogenic | 113972676 | RCV000794600|RCV002424809; | N | 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:CN230736 | 7 | 128483010 | 128483010 | | | 7:g.128483010T>C | - | | | NM_001458.5(FLNC):c.2550+4C>G | 2318 | FLNC | Uncertain significance | -1 | RCV002731262; | N | 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 | 7 | 128483012 | 128483012 | | | NC_000007.13:g.128483012C>G | - | | | NM_001458.5(FLNC):c.2550+10C>T | 2318 | FLNC | Likely benign | 2128935820 | RCV002097380; | N | 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 | 7 | 128483018 | 128483018 | | | 128483018 | - | | | NM_001458.5(FLNC):c.2550+14T>A | 2318 | FLNC | Likely benign | -1 | RCV002622554; | N | 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 | 7 | 128483022 | 128483022 | | | NC_000007.13:g.128483022T>A | - | | | NM_001458.5(FLNC):c.2550+15_2550+18del | 2318 | FLNC | Likely benign | -1 | RCV002639128; | N | 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 | 7 | 128483022 | 128483025 | | | NC_000007.13:g.128483023_128483026del | - | | | NM_001458.5(FLNC):c.2550+18T>C | 2318 | FLNC | Likely benign | -1 | RCV002712099; | N | 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 | 7 | 128483026 | 128483026 | | | NC_000007.13:g.128483026T>C | - | | | NM_001458.5(FLNC):c.2551-17G>A | 2318 | FLNC | Likely benign | 953166619 | RCV002096651; | N | 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 | 7 | 128483266 | 128483266 | | | 128483266 | - | | | NM_001458.5(FLNC):c.2551-7C>T | 2318 | FLNC | Likely benign | -1 | RCV003025910; | N | 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 | 7 | 128483276 | 128483276 | | | NC_000007.13:g.128483276C>T | - | | | NM_001458.5(FLNC):c.2551-3C>T | 2318 | FLNC | Uncertain significance | 1293024920 | RCV001368074; | N | 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 | 7 | 128483280 | 128483280 | | | 128483280 | - | | | NM_001458.5(FLNC):c.2553G>T (p.Glu851Asp) | 2318 | FLNC | Uncertain significance | -1 | RCV002433323|RCV003101963; | N | MedGen: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:CN239310 | 7 | 128483285 | 128483285 | | | 128483285 | - | | | NM_001458.5(FLNC):c.2555T>C (p.Ile852Thr) | 2318 | FLNC | Uncertain significance | 111482519 | RCV001930800; | N | 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 | 7 | 128483287 | 128483287 | | | 128483287 | - | | | NM_001458.5(FLNC):c.2557C>T (p.Pro853Ser) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 374302753 | RCV001237752|RCV002436933|RCV003223710; | N | 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:CN230736|MedGen:CN517202 | 7 | 128483289 | 128483289 | | | 7:g.128483289C>T | - | | | NM_001458.5(FLNC):c.2559C>T (p.Pro853=) | 2318 | FLNC | Likely benign | 977635757 | RCV002071826; | N | 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 | 7 | 128483291 | 128483291 | | | 128483291 | - | | | NM_001458.5(FLNC):c.2560G>A (p.Ala854Thr) | 2318 | FLNC | Uncertain significance | 749855792 | RCV000699285|RCV001561260; | N | 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:CN517202 | 7 | 128483292 | 128483292 | | | 7:g.128483292G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2568C>T (p.Pro856=) | 2318 | FLNC | Benign/Likely benign | 201611050 | RCV000841661|RCV001086468|RCV002456213|RCV003330786; | N | 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:CN230736|MedGen:CN169374 | 7 | 128483300 | 128483300 | | | 7:g.128483300C>T | ClinGen:CA4474783 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2574C>T (p.His858=) | 2318 | FLNC | Likely benign | 779819905 | RCV000937418|RCV002427339; | N | 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:CN230736 | 7 | 128483306 | 128483306 | | | 7:g.128483306C>T | - | | | NM_001458.5(FLNC):c.2582T>G (p.Val861Gly) | 2318 | FLNC | Uncertain significance | 749269317 | RCV001368470; | N | 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 | 7 | 128483314 | 128483314 | | | 128483314 | - | | | NM_001458.5(FLNC):c.2587C>G (p.Pro863Ala) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 754750752 | RCV000811484|RCV002424905; | N | 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 | 7 | 128483319 | 128483319 | | | 7:g.128483319C>G | - | | | NM_001458.5(FLNC):c.2587C>T (p.Pro863Ser) | 2318 | FLNC | Uncertain significance | 754750752 | RCV001044045; | N | 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 | 7 | 128483319 | 128483319 | | | 7:g.128483319C>T | - | | | NM_001458.5(FLNC):c.2595C>T (p.His865=) | 2318 | FLNC | Likely benign | 778744785 | RCV001434275|RCV002432207; | N | 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:CN230736 | 7 | 128483327 | 128483327 | | | 128483327 | - | | | NM_001458.5(FLNC):c.2596G>A (p.Asp866Asn) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 201006462 | RCV001296238|RCV002221620|RCV002437008; | N | 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:CN230736 | 7 | 128483328 | 128483328 | | | 128483328 | - | | | NM_001458.5(FLNC):c.2599G>A (p.Ala867Thr) | 2318 | FLNC | Uncertain significance | 772127988 | RCV001872291; | N | 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 | 7 | 128483331 | 128483331 | | | 128483331 | - | | | NM_001458.5(FLNC):c.2600C>T (p.Ala867Val) | 2318 | FLNC | Uncertain significance | 1352861184 | RCV001053065; | N | 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 | 7 | 128483332 | 128483332 | | | 7:g.128483332C>T | - | | | NM_001458.5(FLNC):c.2602A>G (p.Ser868Gly) | 2318 | FLNC | Uncertain significance | 201002262 | RCV000804911|RCV001731934|RCV002424868|RCV002495095; | N | 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:CN517202|MedGen:CN230736|MONDO:MONDO:001 | 7 | 128483334 | 128483334 | | | 7:g.128483334A>G | - | | | NM_001458.5(FLNC):c.2603_2604delinsT (p.Ser868fs) | 2318 | FLNC | Pathogenic | 1808416556 | RCV001243367; | N | 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 | 7 | 128483335 | 128483336 | | | 7:g.128483336_128483336del | - | | | NM_001458.5(FLNC):c.2604del (p.Ser868fs) | 2318 | FLNC | Pathogenic | 2128935921 | RCV001381844; | N | 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 | 7 | 128483336 | 128483336 | | | 128483335 | - | | | NM_001458.5(FLNC):c.2604C>G (p.Ser868Arg) | 2318 | FLNC | Uncertain significance | 2128935920 | RCV001752279|RCV002032808; | N | MedGen: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 | 7 | 128483336 | 128483336 | | | 128483336 | - | | | NM_001458.5(FLNC):c.2604C>T (p.Ser868=) | 2318 | FLNC | Likely benign | -1 | RCV003093650; | N | 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 | 7 | 128483336 | 128483336 | | | | - | | | NM_001458.5(FLNC):c.2604C>A (p.Ser868Arg) | 2318 | FLNC | Uncertain significance | -1 | RCV002639158; | N | 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 | 7 | 128483336 | 128483336 | | | NC_000007.13:g.128483336C>A | - | | | NM_001458.5(FLNC):c.2610C>G (p.Val870=) | 2318 | FLNC | Likely benign | 2128935926 | RCV002101910; | N | 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 | 7 | 128483342 | 128483342 | | | 128483342 | - | | | NM_001458.5(FLNC):c.2616C>T (p.Ala872=) | 2318 | FLNC | Likely benign | 769947935 | RCV000649244; | N | 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 | 7 | 128483348 | 128483348 | | | 7:g.128483348C>T | ClinGen:CA166176249 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2616C>G (p.Ala872=) | 2318 | FLNC | Likely benign | 769947935 | RCV002168894; | N | 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 | 7 | 128483348 | 128483348 | | | 128483348 | - | | | NM_001458.5(FLNC):c.2617G>A (p.Glu873Lys) | 2318 | FLNC | Uncertain significance | 771092335 | RCV000543589|RCV002431681; | N | 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:CN230736 | 7 | 128483349 | 128483349 | | | 7:g.128483349G>A | ClinGen:CA166176251 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2617G>T (p.Glu873Ter) | 2318 | FLNC | Pathogenic | 771092335 | RCV001938868; | N | 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:614065, Orphanet:63273 | 7 | 128483349 | 128483349 | | | 128483349 | - | | | NM_001458.5(FLNC):c.2621G>A (p.Gly874Asp) | 2318 | FLNC | Uncertain significance | 2128935929 | RCV001888201; | N | 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:614065, Orphanet:63273 | 7 | 128483353 | 128483353 | | | 128483353 | - | | | NM_001458.5(FLNC):c.2622C>T (p.Gly874=) | 2318 | FLNC | Likely benign | 777267184 | RCV000983340; | N | 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 | 7 | 128483354 | 128483354 | | | 7:g.128483354C>T | - | | | NM_001458.5(FLNC):c.2624C>G (p.Pro875Arg) | 2318 | FLNC | Uncertain significance | 1418979185 | RCV000560534; | N | 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 | 7 | 128483356 | 128483356 | | | 7:g.128483356C>G | ClinGen:CA369192579 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2627G>T (p.Gly876Val) | 2318 | FLNC | Uncertain significance | 534407127 | RCV001205132|RCV001701305; | N | 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 | 7 | 128483359 | 128483359 | | | 7:g.128483359G>T | - | | | NM_001458.5(FLNC):c.2628G>T (p.Gly876=) | 2318 | FLNC | Uncertain significance | 2128935936 | RCV002041944; | N | 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 | 7 | 128483360 | 128483360 | | | 128483360 | - | | | NM_001458.5(FLNC):c.2630_2631insTCT (p.Leu877_Asn878insLeu) | 2318 | FLNC | Uncertain significance | -1 | RCV003095546; | N | 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 | 7 | 128483360 | 128483361 | | | NC_000007.13:g.128483362_128483363insTCT | - | | | NM_001458.5(FLNC):c.2631G>C (p.Leu877=) | 2318 | FLNC | Likely benign | 2128935938 | RCV002212472; | N | 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 | 7 | 128483363 | 128483363 | | | 128483363 | - | | | NM_001458.5(FLNC):c.2633A>G (p.Asn878Ser) | 2318 | FLNC | Uncertain significance | -1 | RCV002618999; | N | 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 | 7 | 128483365 | 128483365 | | | NC_000007.13:g.128483365A>G | - | | | NM_001458.5(FLNC):c.2635C>T (p.Arg879Cys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 374983276 | RCV000536582|RCV001508592|RCV002438463|RCV002506359; | N | 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:CN517202|MedGen:CN230736|MONDO:MONDO:001 | 7 | 128483367 | 128483367 | | | 7:g.128483367C>T | ClinGen:CA4474794 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2636G>A (p.Arg879His) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 367997079 | RCV000649130|RCV001756083; | N | 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:CN517202 | 7 | 128483368 | 128483368 | | | NC_000007.13:g.128483368G>A | ClinGen:CA4474795 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2639C>T (p.Thr880Ile) | 2318 | FLNC | Uncertain significance | 1324832799 | RCV001325115|RCV003166905; | N | 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 | 7 | 128483371 | 128483371 | | | 128483371 | - | | | NM_001458.5(FLNC):c.2641+5G>C | 2318 | FLNC | Uncertain significance | 2128935942 | RCV001929156; | N | 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 | 7 | 128483378 | 128483378 | | | 128483378 | - | | | NM_001458.5(FLNC):c.2641+8_2641+11del | 2318 | FLNC | Likely benign | 1808418675 | RCV001485370; | N | 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 | 7 | 128483379 | 128483382 | | | 128483378 | - | | | NM_001458.5(FLNC):c.2641+7G>T | 2318 | FLNC | Likely benign | 775941446 | RCV001400815; | N | 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 | 7 | 128483380 | 128483380 | | | 128483380 | - | | | NM_001458.5(FLNC):c.2641+18G>A | 2318 | FLNC | Likely benign | 763402287 | RCV002182183; | N | 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 | 7 | 128483391 | 128483391 | | | 128483391 | - | | | NM_001458.5(FLNC):c.2642-18C>T | 2318 | FLNC | Likely benign | 202220457 | RCV002106830; | N | 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 | 7 | 128483444 | 128483444 | | | 128483444 | - | | | NM_001458.5(FLNC):c.2642-16C>T | 2318 | FLNC | Likely benign | 747314181 | RCV002079960; | N | MONDO:MONDO: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 | 7 | 128483446 | 128483446 | | | 128483446 | - | | | NM_001458.5(FLNC):c.2642-8G>T | 2318 | FLNC | Likely benign | 2128935975 | RCV002105961; | N | 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 | 7 | 128483454 | 128483454 | | | 128483454 | - | | | NM_001458.5(FLNC):c.2642-3C>T | 2318 | FLNC | Uncertain significance | 1808423104 | RCV001247551; | N | 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 | 7 | 128483459 | 128483459 | | | 7:g.128483459C>T | - | | | NM_001458.5(FLNC):c.2642G>T (p.Gly881Val) | 2318 | FLNC | Uncertain significance | 377095070 | RCV000820273; | N | 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 | 7 | 128483462 | 128483462 | | | 7:g.128483462G>T | - | | | NM_001458.5(FLNC):c.2644G>A (p.Val882Met) | 2318 | FLNC | Uncertain significance | -1 | RCV003111880; | N | 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 | 7 | 128483464 | 128483464 | | | NC_000007.13:g.128483464G>A | - | | | NM_001458.5(FLNC):c.2650G>T (p.Val884Phe) | 2318 | FLNC | Uncertain significance | 770379589 | RCV000649106; | N | 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 | 7 | 128483470 | 128483470 | | | 7:g.128483470G>T | ClinGen:CA4474812 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2652C>G (p.Val884=) | 2318 | FLNC | Likely benign | 369714355 | RCV001469290; | N | 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 | 7 | 128483472 | 128483472 | | | 7:g.128483472C>G | ClinGen:CA4474814 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2652C>T (p.Val884=) | 2318 | FLNC | Likely benign | 369714355 | RCV001492271|RCV002456877; | N | 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:CN230736 | 7 | 128483472 | 128483472 | | | 128483472 | - | | | NM_001458.5(FLNC):c.2653G>A (p.Gly885Arg) | 2318 | FLNC | Uncertain significance | 769110628 | RCV000549101|RCV002431682|RCV003144352; | N | 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|MedGen:C3661900 | 7 | 128483473 | 128483473 | | | NC_000007.13:g.128483473G>A | ClinGen:CA4474815 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2655G>A (p.Gly885=) | 2318 | FLNC | Likely benign | 1034531656 | RCV002185577; | N | 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 | 7 | 128483475 | 128483475 | | | 128483475 | - | | | NM_001458.5(FLNC):c.2658G>A (p.Lys886=) | 2318 | FLNC | Likely benign | 2128935981 | RCV001486539; | N | 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 | 7 | 128483478 | 128483478 | | | 128483478 | - | | | NM_001458.5(FLNC):c.2661C>T (p.Pro887=) | 2318 | FLNC | Likely benign | 772723929 | RCV002204161; | N | 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 | 7 | 128483481 | 128483481 | | | 128483481 | - | | | NM_001458.5(FLNC):c.2666A>G (p.His889Arg) | 2318 | FLNC | Uncertain significance | 1808424297 | RCV001984679; | N | 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:614065, Orphanet:63273 | 7 | 128483486 | 128483486 | | | 128483486 | - | | | NM_001458.5(FLNC):c.2670C>T (p.Phe890=) | 2318 | FLNC | Likely benign | -1 | RCV003007503; | N | 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 | 7 | 128483490 | 128483490 | | | | - | | | NM_001458.5(FLNC):c.2672C>T (p.Thr891Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 766023596 | RCV001060654|RCV002429687|RCV003145319|RCV003393829; | N | MONDO:MONDO: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| | 7 | 128483492 | 128483492 | | | 7:g.128483492C>T | - | | | NM_001458.5(FLNC):c.2673G>A (p.Thr891=) | 2318 | FLNC | Likely benign | 761823234 | RCV000691546|RCV002440450|RCV003330902|RCV003457736; | N | 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|MedGen:CN169374|MedGen:C3661900 | 7 | 128483493 | 128483493 | | | NC_000007.13:g.128483493G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2674G>A (p.Val892Met) | 2318 | FLNC | Uncertain significance | 200986712 | RCV001312661; | N | 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 | 7 | 128483494 | 128483494 | | | 128483494 | - | | | NM_001458.5(FLNC):c.2686G>A (p.Gly896Arg) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 200215903 | RCV000497557|RCV001088702|RCV002455958; | N | 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:CN230736 | 7 | 128483506 | 128483506 | | | 7:g.128483506G>A | ClinGen:CA4474822 | CN169374 not specified; | | NM_001458.5(FLNC):c.2691C>T (p.Ala897=) | 2318 | FLNC | Likely benign | 758116420 | RCV001446151|RCV002456752; | N | 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 | 7 | 128483511 | 128483511 | | | 128483511 | - | | | NM_001458.5(FLNC):c.2692G>A (p.Gly898Ser) | 2318 | FLNC | Likely benign | 777692031 | RCV001930564; | N | 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 | 7 | 128483512 | 128483512 | | | 128483512 | - | | | NM_001458.5(FLNC):c.2701A>C (p.Lys901Gln) | 2318 | FLNC | Uncertain significance | 2128935990 | RCV001922701; | N | 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 | 7 | 128483521 | 128483521 | | | 128483521 | - | | | NM_001458.5(FLNC):c.2703G>T (p.Lys901Asn) | 2318 | FLNC | Uncertain significance | 1554398845 | RCV000498262|RCV001857001|RCV003278846; | N | MedGen: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:CN230736 | 7 | 128483523 | 128483523 | | | 7:g.128483523G>T | ClinGen:CA369192959 | CN169374 not specified; | | NM_001458.5(FLNC):c.2706G>A (p.Leu902=) | 2318 | FLNC | Likely benign | -1 | RCV002837744; | N | 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 | 7 | 128483526 | 128483526 | | | | - | | | NM_001458.5(FLNC):c.2707G>A (p.Asp903Asn) | 2318 | FLNC | Uncertain significance | 781591239 | RCV001059112; | N | 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 | 7 | 128483527 | 128483527 | | | 7:g.128483527G>A | - | | | NM_001458.5(FLNC):c.2710G>A (p.Val904Met) | 2318 | FLNC | Uncertain significance | 1340231541 | RCV001365439; | N | 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 | 7 | 128483530 | 128483530 | | | 128483530 | - | | | NM_001458.5(FLNC):c.2711T>G (p.Val904Gly) | 2318 | FLNC | Uncertain significance | 2128935993 | RCV002027196; | N | 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 | 7 | 128483531 | 128483531 | | | 128483531 | - | | | NM_001458.5(FLNC):c.2714A>G (p.Gln905Arg) | 2318 | FLNC | Uncertain significance | -1 | RCV002720102; | N | 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 | 7 | 128483534 | 128483534 | | | NC_000007.13:g.128483534A>G | - | | | NM_001458.5(FLNC):c.2717T>C (p.Phe906Ser) | 2318 | FLNC | Uncertain significance | 1212936871 | RCV001760945|RCV002540318; | N | MedGen: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 | 7 | 128483537 | 128483537 | | | 128483537 | - | | | NM_001458.5(FLNC):c.2724G>C (p.Gly908=) | 2318 | FLNC | Likely benign | 1808426712 | RCV001495627; | N | 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 | 7 | 128483544 | 128483544 | | | 128483544 | - | | | NM_001458.5(FLNC):c.2730C>G (p.Ala910=) | 2318 | FLNC | Likely benign | 1585158635 | RCV001451663|RCV002434262; | N | 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 | 7 | 128483550 | 128483550 | | | 7:g.128483550C>G | - | | | NM_001458.5(FLNC):c.2731A>C (p.Lys911Gln) | 2318 | FLNC | Uncertain significance | -1 | RCV002820320; | N | 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 | 7 | 128483551 | 128483551 | | | NC_000007.13:g.128483551A>C | - | | | NM_001458.5(FLNC):c.2733G>A (p.Lys911=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 374135903 | RCV000733039|RCV001089435|RCV001700300|RCV002440576; | N | MedGen: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:CN230736 | 7 | 128483553 | 128483553 | | | NC_000007.13:g.128483553G>A | - | | | NM_001458.5(FLNC):c.2734G>A (p.Gly912Ser) | 2318 | FLNC | Uncertain significance | 1808427228 | RCV001879411; | N | 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:614065, Orphanet:63273 | 7 | 128483554 | 128483554 | | | 128483554 | - | | | NM_001458.5(FLNC):c.2736C>T (p.Gly912=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 768894698 | RCV000649124|RCV002440344; | N | 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:CN230736 | 7 | 128483556 | 128483556 | | | 7:g.128483556C>T | ClinGen:CA4474832 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2737G>A (p.Glu913Lys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 774707336 | RCV001351237|RCV001773705|RCV002438815|RCV002476615; | N | 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:CN517202|MedGen:CN230736|MONDO:MONDO:001 | 7 | 128483557 | 128483557 | | | 128483557 | - | | | NM_001458.5(FLNC):c.2743_2753del (p.Val914_Val915insTer) | 2318 | FLNC | Pathogenic | 2128936006 | RCV001960580; | N | 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 | 7 | 128483561 | 128483571 | | | 128483560 | - | | | NM_001458.5(FLNC):c.2746C>T (p.Arg916Trp) | 2318 | FLNC | Uncertain significance | 762095761 | RCV001920909|RCV002508973; | N | 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|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524 | 7 | 128483566 | 128483566 | | | 128483566 | - | | | NM_001458.5(FLNC):c.2747G>A (p.Arg916Gln) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 143720860 | RCV000691700|RCV001547807|RCV002440451; | N | 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:C3661900|MedGen:CN230736 | 7 | 128483567 | 128483567 | | | NC_000007.13:g.128483567G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2747G>T (p.Arg916Leu) | 2318 | FLNC | Uncertain significance | 143720860 | RCV000802888|RCV002440687; | N | 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 | 7 | 128483567 | 128483567 | | | 7:g.128483567G>T | - | | | NM_001458.5(FLNC):c.2754_2755insC (p.Glu919fs) | 2318 | FLNC | Pathogenic | 2128936013 | RCV001963141; | N | 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 | 7 | 128483574 | 128483575 | | | 128483574 | - | | | NM_001458.5(FLNC):c.2767A>C (p.Asn923His) | 2318 | FLNC | Uncertain significance | 1420123492 | RCV000703512|RCV002440525|RCV003424297; | N | 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|MedGen:C3661900 | 7 | 128483587 | 128483587 | | | 7:g.128483587A>C | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2769C>T (p.Asn923=) | 2318 | FLNC | Likely benign | 2128936016 | RCV001405732; | N | 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 | 7 | 128483589 | 128483589 | | | 128483589 | - | | | NM_001458.5(FLNC):c.2772T>C (p.His924=) | 2318 | FLNC | Likely benign | 1326134089 | RCV001406683; | N | 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 | 7 | 128483592 | 128483592 | | | 128483592 | - | | | NM_001458.5(FLNC):c.2774A>T (p.Asp925Val) | 2318 | FLNC | Conflicting interpretations of pathogenicity | -1 | RCV002439641|RCV003102198; | N | MedGen: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:CN239310 | 7 | 128483594 | 128483594 | | | 128483594 | - | | | NM_001458.5(FLNC):c.2776T>G (p.Tyr926Asp) | 2318 | FLNC | Uncertain significance | 1808429467 | RCV001295403; | N | 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 | 7 | 128483596 | 128483596 | | | 128483596 | - | | | NM_001458.5(FLNC):c.2780_2782del (p.Ser927del) | 2318 | FLNC | Uncertain significance | 1808429673 | RCV001248258; | N | 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 | 7 | 128483598 | 128483600 | | | 7:g.128483598_128483600del | - | | | NM_001458.5(FLNC):c.2779T>C (p.Ser927Pro) | 2318 | FLNC | Uncertain significance | -1 | RCV002751435; | N | 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 | 7 | 128483599 | 128483599 | | | NC_000007.13:g.128483599T>C | - | | | NM_001458.5(FLNC):c.2780C>T (p.Ser927Phe) | 2318 | FLNC | Uncertain significance | 1585158690 | RCV000823271|RCV002434021; | N | 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 | 7 | 128483600 | 128483600 | | | 7:g.128483600C>T | - | | | NM_001458.5(FLNC):c.2780C>A (p.Ser927Tyr) | 2318 | FLNC | Uncertain significance | 1585158690 | RCV001324377; | N | 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 | 7 | 128483600 | 128483600 | | | 128483600 | - | | | NM_001458.5(FLNC):c.2782T>A (p.Tyr928Asn) | 2318 | FLNC | Uncertain significance | 1808429909 | RCV001055340; | N | 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 | 7 | 128483602 | 128483602 | | | 7:g.128483602T>A | - | | | NM_001458.5(FLNC):c.2782T>C (p.Tyr928His) | 2318 | FLNC | Uncertain significance | 1808429909 | RCV001222684; | N | 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 | 7 | 128483602 | 128483602 | | | 7:g.128483602T>C | - | | | NM_001458.5(FLNC):c.2790C>T (p.Val930=) | 2318 | FLNC | Likely benign | 199966433 | RCV000649201|RCV001537138|RCV002440345; | N | 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:CN517202|MedGen:CN230736 | 7 | 128483610 | 128483610 | | | 7:g.128483610C>T | ClinGen:CA4474839 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2790C>G (p.Val930=) | 2318 | FLNC | Likely benign | -1 | RCV002622238; | N | 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 | 7 | 128483610 | 128483610 | | | | - | | | NM_001458.5(FLNC):c.2794T>A (p.Tyr932Asn) | 2318 | FLNC | Uncertain significance | 1808430365 | RCV001227237|RCV003145427; | N | 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:CN517202 | 7 | 128483614 | 128483614 | | | 7:g.128483614T>A | - | | | NM_001458.5(FLNC):c.2796C>T (p.Tyr932=) | 2318 | FLNC | Likely benign | 1371836474 | RCV000538095; | N | 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 | 7 | 128483616 | 128483616 | | | 7:g.128483616C>T | ClinGen:CA457577814 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2797A>C (p.Thr933Pro) | 2318 | FLNC | Uncertain significance | 2128936026 | RCV001903722; | N | 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:614065, Orphanet:63273 | 7 | 128483617 | 128483617 | | | 128483617 | - | | | NM_001458.5(FLNC):c.2798C>G (p.Thr933Ser) | 2318 | FLNC | Uncertain significance | -1 | RCV002612825; | N | 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 | 7 | 128483618 | 128483618 | | | NC_000007.13:g.128483618C>G | - | | | NM_001458.5(FLNC):c.2799C>T (p.Thr933=) | 2318 | FLNC | Likely benign | 202186772 | RCV000874959|RCV001712648|RCV002438582; | N | 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:C3661900|MedGen:CN230736 | 7 | 128483619 | 128483619 | | | 7:g.128483619C>T | ClinGen:CA4474840 | CN169374 not specified; | | NM_001458.5(FLNC):c.2800G>A (p.Ala934Thr) | 2318 | FLNC | Likely benign | 763954095 | RCV000685741; | N | 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 | 7 | 128483620 | 128483620 | | | NC_000007.13:g.128483620G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2807A>T (p.Gln936Leu) | 2318 | FLNC | Uncertain significance | 2128936027 | RCV001916939; | N | 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:614065, Orphanet:63273 | 7 | 128483627 | 128483627 | | | 128483627 | - | | | NM_001458.5(FLNC):c.2811+1G>T | 2318 | FLNC | Likely pathogenic | 2128936028 | RCV002006847; | N | 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 | 7 | 128483632 | 128483632 | | | 128483632 | - | | | NM_001458.5(FLNC):c.2811+4C>T | 2318 | FLNC | Uncertain significance | 146715204 | RCV001262961|RCV001706726|RCV001880049|RCV002436983; | N | 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:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273; | 7 | 128483635 | 128483635 | | | 7:g.128483635C>T | - | | | NM_001458.5(FLNC):c.2811+5G>A | 2318 | FLNC | Uncertain significance | 781538211 | RCV001751556|RCV001294391|RCV001839040|RCV002437000; | N | MedGen: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:C431 | 7 | 128483636 | 128483636 | | | 128483636 | - | | | NM_001458.5(FLNC):c.2811+6C>T | 2318 | FLNC | Uncertain significance | 750718546 | RCV001318236; | N | 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 | 7 | 128483637 | 128483637 | | | 128483637 | - | | | NM_001458.5(FLNC):c.2811+14C>T | 2318 | FLNC | Likely benign | 780344743 | RCV002088205; | N | MONDO:MONDO: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 | 7 | 128483645 | 128483645 | | | 128483645 | - | | | NM_001458.5(FLNC):c.2811+15T>C | 2318 | FLNC | Likely benign | -1 | RCV003056196; | N | 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 | 7 | 128483646 | 128483646 | | | NC_000007.13:g.128483646T>C | - | | | NM_001458.5(FLNC):c.2811+20T>A | 2318 | FLNC | Likely benign | -1 | RCV002881276; | N | 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 | 7 | 128483651 | 128483651 | | | NC_000007.13:g.128483651T>A | - | | | NM_001458.5(FLNC):c.2812-16C>T | 2318 | FLNC | Likely benign | 754582909 | RCV002194717; | N | 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 | 7 | 128483834 | 128483834 | | | 128483834 | - | | | NM_001458.5(FLNC):c.2812-16C>A | 2318 | FLNC | Likely benign | 754582909 | RCV002109842; | N | 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 | 7 | 128483834 | 128483834 | | | 128483834 | - | | | NM_001458.5(FLNC):c.2812-15del | 2318 | FLNC | Likely benign | -1 | RCV002938553; | N | 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 | 7 | 128483834 | 128483834 | | | NC_000007.13:g.128483835del | - | | | NM_001458.5(FLNC):c.2812-14A>G | 2318 | FLNC | Likely benign | 755042584 | RCV002126673; | N | MONDO:MONDO: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 | 7 | 128483836 | 128483836 | | | 128483836 | - | | | NM_001458.5(FLNC):c.2812-12T>G | 2318 | FLNC | Likely benign | -1 | RCV002877483; | N | 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 | 7 | 128483838 | 128483838 | | | NC_000007.13:g.128483838T>G | - | | | NM_001458.5(FLNC):c.2812-8C>T | 2318 | FLNC | Likely benign | -1 | RCV002618590; | N | 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 | 7 | 128483842 | 128483842 | | | NC_000007.13:g.128483842C>T | - | | | NM_001458.5(FLNC):c.2812-4A>T | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1461105538 | RCV001068043|RCV002436671; | N | 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 | 7 | 128483846 | 128483846 | | | 7:g.128483846A>T | - | | | NM_001458.5(FLNC):c.2812-4A>G | 2318 | FLNC | Uncertain significance | -1 | RCV003085952; | N | 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 | 7 | 128483846 | 128483846 | | | NC_000007.13:g.128483846A>G | - | | | NM_001458.5(FLNC):c.2816_2823dup (p.Val942fs) | 2318 | FLNC | Pathogenic | 2128936072 | RCV001950674; | N | 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 | 7 | 128483849 | 128483850 | | | 128483849 | - | | | NM_001458.5(FLNC):c.2815A>G (p.Asn939Asp) | 2318 | FLNC | Uncertain significance | -1 | RCV002780790; | N | 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 | 7 | 128483853 | 128483853 | | | NC_000007.13:g.128483853A>G | - | | | NM_001458.5(FLNC):c.2819T>A (p.Met940Lys) | 2318 | FLNC | Uncertain significance | 2128936077 | RCV002004560; | N | 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 | 7 | 128483857 | 128483857 | | | 128483857 | - | | | NM_001458.5(FLNC):c.2821G>A (p.Ala941Thr) | 2318 | FLNC | Uncertain significance | 1334463747 | RCV001233473; | N | 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 | 7 | 128483859 | 128483859 | | | 7:g.128483859G>A | - | | | NM_001458.5(FLNC):c.2825T>C (p.Val942Ala) | 2318 | FLNC | Uncertain significance | 1808440244 | RCV001246124; | N | 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 | 7 | 128483863 | 128483863 | | | 7:g.128483863T>C | - | | | NM_001458.5(FLNC):c.2830G>A (p.Val944Met) | 2318 | FLNC | Uncertain significance | 2128936081 | RCV001929642; | N | 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 | 7 | 128483868 | 128483868 | | | 128483868 | - | | | NM_001458.5(FLNC):c.2832G>T (p.Val944=) | 2318 | FLNC | Likely benign | -1 | RCV002863454; | N | 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 | 7 | 128483870 | 128483870 | | | | - | | | NM_001458.5(FLNC):c.2833A>G (p.Thr945Ala) | 2318 | FLNC | Uncertain significance | -1 | RCV003082957; | N | 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 | 7 | 128483871 | 128483871 | | | NC_000007.13:g.128483871A>G | - | | | NM_001458.5(FLNC):c.2838T>C (p.Tyr946=) | 2318 | FLNC | Likely benign | 769390195 | RCV001452750|RCV003298775; | N | 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 | 7 | 128483876 | 128483876 | | | 128483876 | - | | | NM_001458.5(FLNC):c.2838T>A (p.Tyr946Ter) | 2318 | FLNC | Pathogenic | 769390195 | RCV001699638|RCV002538626; | N | 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:63273 | 7 | 128483876 | 128483876 | | | 128483876 | - | | | NM_001458.5(FLNC):c.2839G>C (p.Gly947Arg) | 2318 | FLNC | Likely benign | 372741923 | RCV000649214|RCV002440346; | N | 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:CN230736 | 7 | 128483877 | 128483877 | | | 7:g.128483877G>C | ClinGen:CA4474878 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2840G>A (p.Gly947Asp) | 2318 | FLNC | Uncertain significance | -1 | RCV003005264; | N | 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 | 7 | 128483878 | 128483878 | | | NC_000007.13:g.128483878G>A | - | | | NM_001458.5(FLNC):c.2841C>T (p.Gly947=) | 2318 | FLNC | Benign/Likely benign | 547060988 | RCV000550584|RCV001700413|RCV002438464|RCV001584312; | N | 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:CN169374|MedGen:CN230736|MedGen:C3661900 | 7 | 128483879 | 128483879 | | | 7:g.128483879C>T | ClinGen:CA4474879 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2842G>A (p.Gly948Arg) | 2318 | FLNC | Uncertain significance | 768103657 | RCV000538451|RCV001570072|RCV002483472|RCV002438465; | N | 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:CN517202|MONDO:MONDO:0012289,MedGen:C183 | 7 | 128483880 | 128483880 | | | 7:g.128483880G>A | ClinGen:CA4474880 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2843G>A (p.Gly948Glu) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 373298499 | RCV001326747|RCV001773652|RCV002438750; | N | 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:CN517202|MedGen:CN230736 | 7 | 128483881 | 128483881 | | | 128483881 | - | | | NM_001458.5(FLNC):c.2844G>A (p.Gly948=) | 2318 | FLNC | Likely benign | -1 | RCV002435287|RCV003102784; | N | MedGen: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:CN239310 | 7 | 128483882 | 128483882 | | | | - | | | NM_001458.5(FLNC):c.2845G>T (p.Asp949Tyr) | 2318 | FLNC | Uncertain significance | 761905908 | RCV000550922; | N | 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 | 7 | 128483883 | 128483883 | | | 7:g.128483883G>T | ClinGen:CA369193411 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2845G>C (p.Asp949His) | 2318 | FLNC | Uncertain significance | 761905908 | RCV000690174|RCV003163144; | N | 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:CN230736 | 7 | 128483883 | 128483883 | | | NC_000007.13:g.128483883G>C | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2845G>A (p.Asp949Asn) | 2318 | FLNC | Likely benign | 761905908 | RCV002003626; | N | 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 | 7 | 128483883 | 128483883 | | | 128483883 | - | | | NM_001458.5(FLNC):c.2846del (p.Asp949fs) | 2318 | FLNC | Pathogenic | 2128936089 | RCV001957430; | N | 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 | 7 | 128483884 | 128483884 | | | 128483883 | - | | | NM_001458.5(FLNC):c.2847C>G (p.Asp949Glu) | 2318 | FLNC | Uncertain significance | 1808441944 | RCV001305930; | N | 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 | 7 | 128483885 | 128483885 | | | 128483885 | - | | | NM_001458.5(FLNC):c.2847C>A (p.Asp949Glu) | 2318 | FLNC | Uncertain significance | 1808441944 | RCV001349554; | N | 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 | 7 | 128483885 | 128483885 | | | 128483885 | - | | | NM_001458.5(FLNC):c.2851G>T (p.Val951Phe) | 2318 | FLNC | Uncertain significance | 760566825 | RCV000649079; | N | 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 | 7 | 128483889 | 128483889 | | | NC_000007.13:g.128483889G>T | ClinGen:CA4474885 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2856C>T (p.Pro952=) | 2318 | FLNC | Likely benign | 2128936094 | RCV002157922; | N | 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 | 7 | 128483894 | 128483894 | | | 128483894 | - | | | NM_001458.5(FLNC):c.2862C>G (p.Ser954Arg) | 2318 | FLNC | Uncertain significance | 766581831 | RCV001235371; | N | 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 | 7 | 128483900 | 128483900 | | | 7:g.128483900C>G | - | | | NM_001458.5(FLNC):c.2862C>T (p.Ser954=) | 2318 | FLNC | Likely benign | 766581831 | RCV002151056; | N | 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 | 7 | 128483900 | 128483900 | | | 128483900 | - | | | NM_001458.5(FLNC):c.2872del (p.Val957_Val958insTer) | 2318 | FLNC | Pathogenic | 1401551498 | RCV001242615|RCV001268508; | N | 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:CN517202 | 7 | 128483909 | 128483909 | | | 7:g.128483909_128483909del | - | | | NM_001458.5(FLNC):c.2874G>C (p.Val958=) | 2318 | FLNC | Likely benign | 754046100 | RCV000956206|RCV003307761; | N | 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:614065, Orphanet:63273|MedGen:CN230736 | 7 | 128483912 | 128483912 | | | 7:g.128483912G>C | - | | | NM_001458.5(FLNC):c.2874G>A (p.Val958=) | 2318 | FLNC | Likely benign | 754046100 | RCV002138737|RCV003308018; | N | 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:CN230736 | 7 | 128483912 | 128483912 | | | 128483912 | - | | | NM_001458.5(FLNC):c.2879T>G (p.Val960Gly) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 568452175 | RCV001756857|RCV001868454|RCV002440856; | N | MedGen: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 | 7 | 128483917 | 128483917 | | | 128483917 | - | | | NM_001458.5(FLNC):c.2879T>C (p.Val960Ala) | 2318 | FLNC | Uncertain significance | 568452175 | RCV001942691|RCV003146280; | N | 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 | 7 | 128483917 | 128483917 | | | 128483917 | - | | | NM_001458.5(FLNC):c.2884C>A (p.Pro962Thr) | 2318 | FLNC | Uncertain significance | 765301554 | RCV001362033|RCV002438839; | N | 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:CN230736 | 7 | 128483922 | 128483922 | | | 128483922 | - | | | NM_001458.5(FLNC):c.2888C>T (p.Pro963Leu) | 2318 | FLNC | Uncertain significance | 963838554 | RCV001212447|RCV002436818|RCV003145391; | N | 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|MedGen:CN517202 | 7 | 128483926 | 128483926 | | | 7:g.128483926C>T | - | | | NM_001458.5(FLNC):c.2889G>A (p.Pro963=) | 2318 | FLNC | Benign/Likely benign | 191892345 | RCV000421903|RCV000526571|RCV001703747|RCV002436280; | N | 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|MedGen:C3661900|MedGen:CN230736 | 7 | 128483927 | 128483927 | | | 7:g.128483927G>A | ClinGen:CA4474892 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2890C>A (p.Leu964Met) | 2318 | FLNC | Uncertain significance | 1562996103 | RCV000704179; | N | 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 | 7 | 128483928 | 128483928 | | | 7:g.128483928C>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2897T>C (p.Leu966Pro) | 2318 | FLNC | Uncertain significance | 2128936106 | RCV001917463; | N | 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 | 7 | 128483935 | 128483935 | | | 128483935 | - | | | NM_001458.5(FLNC):c.2900G>A (p.Ser967Asn) | 2318 | FLNC | Uncertain significance | -1 | RCV002438075|RCV003102858; | N | MedGen: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:CN239310 | 7 | 128483938 | 128483938 | | | 128483938 | - | | | NM_001458.5(FLNC):c.2905del (p.Ile969fs) | 2318 | FLNC | Pathogenic | 2128936107 | RCV001390201; | N | 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 | 7 | 128483940 | 128483940 | | | 128483939 | - | | | NM_001458.5(FLNC):c.2907C>A (p.Ile969=) | 2318 | FLNC | Likely benign | 368059457 | RCV000950994|RCV001547009|RCV002434313|RCV003150373; | N | 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:CN517202|MedGen:CN230736|Human Phenotype | 7 | 128483945 | 128483945 | | | 7:g.128483945C>A | - | | | NM_001458.5(FLNC):c.2911G>A (p.Val971Ile) | 2318 | FLNC | Uncertain significance | 548199973 | RCV002018998|RCV003146440; | N | 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:C3661900 | 7 | 128483949 | 128483949 | | | 128483949 | - | | | NM_001458.5(FLNC):c.2911G>C (p.Val971Leu) | 2318 | FLNC | Uncertain significance | 548199973 | RCV001955941|RCV002441090; | N | 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:CN230736 | 7 | 128483949 | 128483949 | | | 128483949 | - | | | NM_001458.5(FLNC):c.2914C>T (p.Gln972Ter) | 2318 | FLNC | Pathogenic | -1 | RCV002882058; | N | 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 | 7 | 128483952 | 128483952 | | | NC_000007.13:g.128483952C>T | - | | | NM_001458.5(FLNC):c.2915A>G (p.Gln972Arg) | 2318 | FLNC | Uncertain significance | -1 | RCV002756722; | N | 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 | 7 | 128483953 | 128483953 | | | NC_000007.13:g.128483953A>G | - | | | NM_001458.5(FLNC):c.2916G>A (p.Gln972=) | 2318 | FLNC | Likely benign | 2128936110 | RCV002188446; | N | 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 | 7 | 128483954 | 128483954 | | | 128483954 | - | | | NM_001458.5(FLNC):c.2918del (p.Gly973fs) | 2318 | FLNC | Pathogenic | -1 | RCV002846864; | N | 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 | 7 | 128483954 | 128483954 | | | NC_000007.13:g.128483956del | - | | | NM_001458.5(FLNC):c.2917G>A (p.Gly973Ser) | 2318 | FLNC | Uncertain significance | 2128936113 | RCV002000484|RCV002227573; | N | 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|EFO:EFO_0000407,Human Phenotype Ontology:HP:000 | 7 | 128483955 | 128483955 | | | 128483955 | - | | | NM_001458.5(FLNC):c.2919C>T (p.Gly973=) | 2318 | FLNC | Likely benign | -1 | RCV002731491; | N | 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 | 7 | 128483957 | 128483957 | | | | - | | | NM_001458.5(FLNC):c.2929+2_2929+7del | 2318 | FLNC | Likely pathogenic | 2128936119 | RCV002041480; | N | 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 | 7 | 128483968 | 128483973 | | | 128483967 | - | | | NM_001458.5(FLNC):c.2929+5G>C | 2318 | FLNC | Uncertain significance | -1 | RCV002894143; | N | 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 | 7 | 128483972 | 128483972 | | | NC_000007.13:g.128483972G>C | - | | | NM_001458.5(FLNC):c.2929+6T>G | 2318 | FLNC | Uncertain significance | 2128936121 | RCV001867572; | N | 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 | 7 | 128483973 | 128483973 | | | 128483973 | - | | | NM_001458.5(FLNC):c.2929+8G>A | 2318 | FLNC | Likely benign | 1808445965 | RCV002199830; | N | 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 | 7 | 128483975 | 128483975 | | | 128483975 | - | | | NM_001458.5(FLNC):c.2929+9G>T | 2318 | FLNC | Likely benign | 1585159046 | RCV001434567; | N | 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 | 7 | 128483976 | 128483976 | | | 7:g.128483976G>T | - | | | NM_001458.5(FLNC):c.2929+10G>T | 2318 | FLNC | Likely benign | 747678158 | RCV001476511; | N | 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 | 7 | 128483977 | 128483977 | | | 7:g.128483977G>T | - | | | NM_001458.5(FLNC):c.2929+10G>A | 2318 | FLNC | Likely benign | 747678158 | RCV001437161; | N | 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 | 7 | 128483977 | 128483977 | | | 128483977 | - | | | NM_001458.5(FLNC):c.2929+16G>C | 2318 | FLNC | Likely benign | -1 | RCV002857844; | N | 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 | 7 | 128483983 | 128483983 | | | NC_000007.13:g.128483983G>C | - | | | NM_001458.5(FLNC):c.2929+18C>T | 2318 | FLNC | Likely benign | -1 | RCV002918878; | N | 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 | 7 | 128483985 | 128483985 | | | NC_000007.13:g.128483985C>T | - | | | NM_001458.5(FLNC):c.2929+20C>A | 2318 | FLNC | Likely benign | -1 | RCV003073804; | N | 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 | 7 | 128483987 | 128483987 | | | NC_000007.13:g.128483987C>A | - | | | NM_001458.5(FLNC):c.2930-13G>A | 2318 | FLNC | Likely benign | 367572660 | RCV001587156|RCV002579464; | N | 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 | 7 | 128484045 | 128484045 | | | 128484045 | - | | | NM_001458.5(FLNC):c.2930-9_2930-7dup | 2318 | FLNC | Likely benign | -1 | RCV002640304; | N | 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 | 7 | 128484046 | 128484047 | | | NC_000007.13:g.128484049_128484051dup | - | | | NM_001458.5(FLNC):c.2930-10C>T | 2318 | FLNC | Likely benign | 2128936139 | RCV001501223; | N | 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 | 7 | 128484048 | 128484048 | | | 128484048 | - | | | NM_001458.5(FLNC):c.2930-7C>A | 2318 | FLNC | Likely benign | 1324607570 | RCV001039060; | N | 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 | 7 | 128484051 | 128484051 | | | 7:g.128484051C>A | - | | | NM_001458.5(FLNC):c.2930-7C>T | 2318 | FLNC | Likely benign | -1 | RCV002928458; | N | 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 | 7 | 128484051 | 128484051 | | | NC_000007.13:g.128484051C>T | - | | | NM_001458.5(FLNC):c.2930-5C>T | 2318 | FLNC | Conflicting interpretations of pathogenicity | 371599113 | RCV000585170|RCV001084700|RCV002438519; | N | 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:63273|MedGen:CN230736 | 7 | 128484053 | 128484053 | | | 7:g.128484053C>T | ClinGen:CA4474917 | CN517202 not provided; | | NM_001458.5(FLNC):c.2930-5C>G | 2318 | FLNC | Uncertain significance | 371599113 | RCV001368185; | N | 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 | 7 | 128484053 | 128484053 | | | 128484053 | - | | | NM_001458.5(FLNC):c.2930-4G>A | 2318 | FLNC | Likely benign | 747623690 | RCV001399379; | N | 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 | 7 | 128484054 | 128484054 | | | 128484054 | - | | | NM_001458.5(FLNC):c.2930-4G>T | 2318 | FLNC | Uncertain significance | 747623690 | RCV001947574; | N | 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 | 7 | 128484054 | 128484054 | | | 128484054 | - | | | NM_001458.5(FLNC):c.2930-1G>A | 2318 | FLNC | Likely pathogenic | -1 | RCV002440057|RCV003102891; | N | MedGen: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:CN239310 | 7 | 128484057 | 128484057 | | | 128484057 | - | | | NM_001458.5(FLNC):c.2930A>G (p.Lys977Arg) | 2318 | FLNC | Uncertain significance | 1808450221 | RCV001227643; | N | 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 | 7 | 128484058 | 128484058 | | | 7:g.128484058A>G | - | | | NM_001458.5(FLNC):c.2934G>A (p.Val978=) | 2318 | FLNC | Likely benign | 771749289 | RCV001498887|RCV001815569; | N | 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:C3661900 | 7 | 128484062 | 128484062 | | | 128484062 | - | | | NM_001458.5(FLNC):c.2935G>A (p.Ala979Thr) | 2318 | FLNC | Likely benign | -1 | RCV002633863; | N | 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 | 7 | 128484063 | 128484063 | | | NC_000007.13:g.128484063G>A | - | | | NM_001458.5(FLNC):c.2937T>A (p.Ala979=) | 2318 | FLNC | Likely benign | 746977392 | RCV000943485|RCV002434300; | N | 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 | 7 | 128484065 | 128484065 | | | 7:g.128484065T>A | - | | | NM_001458.5(FLNC):c.2938G>C (p.Val980Leu) | 2318 | FLNC | Uncertain significance | -1 | RCV002582429; | N | 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 | 7 | 128484066 | 128484066 | | | NC_000007.13:g.128484066G>C | - | | | NM_001458.5(FLNC):c.2943A>G (p.Gly981=) | 2318 | FLNC | Likely benign | 759397444 | RCV000526916; | N | 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 | 7 | 128484071 | 128484071 | | | 7:g.128484071A>G | ClinGen:CA457847776 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2950C>T (p.Gln984Ter) | 2318 | FLNC | Pathogenic | 769865678 | RCV001205574; | N | 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 | 7 | 128484078 | 128484078 | | | 7:g.128484078C>T | - | | | NM_001458.5(FLNC):c.2953G>A (p.Ala985Thr) | 2318 | FLNC | Uncertain significance | 1179474749 | RCV000812336|RCV002440760|RCV003145172; | N | 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|MedGen:CN517202 | 7 | 128484081 | 128484081 | | | 7:g.128484081G>A | - | | | NM_001458.5(FLNC):c.2961T>C (p.Ser987=) | 2318 | FLNC | Likely benign | 2128936155 | RCV001410563; | N | MONDO:MONDO: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 | 7 | 128484089 | 128484089 | | | 128484089 | - | | | NM_001458.5(FLNC):c.2967C>T (p.Asn989=) | 2318 | FLNC | Likely benign | 775727204 | RCV001432359; | N | 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 | 7 | 128484095 | 128484095 | | | 7:g.128484095C>T | - | | | NM_001458.5(FLNC):c.2967C>A (p.Asn989Lys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 775727204 | RCV001059891|RCV002436635|RCV003145318; | N | 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|MedGen:CN517202 | 7 | 128484095 | 128484095 | | | 7:g.128484095C>A | - | | | NM_001458.5(FLNC):c.2969C>T (p.Thr990Ile) | 2318 | FLNC | Uncertain significance | 933349270 | RCV002008672; | N | 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 | 7 | 128484097 | 128484097 | | | 128484097 | - | | | NM_001458.5(FLNC):c.2971C>T (p.Arg991Ter) | 2318 | FLNC | Pathogenic/Likely pathogenic | 886037830 | RCV001239831|RCV002494806; | N | 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:0012289,MedGen:C1836050,OMIM:609524 | 7 | 128484099 | 128484099 | | | 7:g.128484099C>T | ClinVar:427828,ClinGen:CA166177514 | C0007193 Primary dilated cardiomyopathy; | | NM_001458.5(FLNC):c.2971C>A (p.Arg991=) | 2318 | FLNC | Likely benign | 886037830 | RCV001394725; | N | 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 | 7 | 128484099 | 128484099 | | | 128484099 | - | | | NM_001458.5(FLNC):c.2972G>A (p.Arg991Gln) | 2318 | FLNC | Uncertain significance | -1 | RCV003053116|RCV003171036; | N | 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 | 7 | 128484100 | 128484100 | | | NC_000007.13:g.128484100G>A | - | | | NM_001458.5(FLNC):c.2977del (p.Ala993fs) | 2318 | FLNC | Pathogenic | -1 | RCV002908873; | N | 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 | 7 | 128484102 | 128484102 | | | NC_000007.13:g.128484105del | - | | | NM_001458.5(FLNC):c.2975G>A (p.Gly992Glu) | 2318 | FLNC | Uncertain significance | 1419637272 | RCV001345174; | N | 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 | 7 | 128484103 | 128484103 | | | 128484103 | - | | | NM_001458.5(FLNC):c.2978C>T (p.Ala993Val) | 2318 | FLNC | Uncertain significance | 2128936160 | RCV002039364; | N | MONDO:MONDO: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 | 7 | 128484106 | 128484106 | | | 128484106 | - | | | NM_001458.5(FLNC):c.2981G>T (p.Gly994Val) | 2318 | FLNC | Uncertain significance | -1 | RCV002947740; | N | 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 | 7 | 128484109 | 128484109 | | | NC_000007.13:g.128484109G>T | - | | | NM_001458.5(FLNC):c.2982C>G (p.Gly994=) | 2318 | FLNC | Likely benign | 947174901 | RCV000649188|RCV003303062; | N | 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 | 7 | 128484110 | 128484110 | | | 7:g.128484110C>G | ClinGen:CA457847834 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2982C>T (p.Gly994=) | 2318 | FLNC | Likely benign | 947174901 | RCV001699713|RCV001724392|RCV002073271; | N | MedGen: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:63273 | 7 | 128484110 | 128484110 | | | 128484110 | - | | | NM_001458.5(FLNC):c.2983G>A (p.Gly995Ser) | 2318 | FLNC | Uncertain significance | 752053093 | RCV001360590|RCV002291752|RCV002438832; | N | 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:C3661900|MedGen:CN230736 | 7 | 128484111 | 128484111 | | | 128484111 | - | | | NM_001458.5(FLNC):c.2984G>A (p.Gly995Asp) | 2318 | FLNC | Uncertain significance | 1808452430 | RCV001048121|RCV003233937; | N | 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|MedGen:CN517202 | 7 | 128484112 | 128484112 | | | 7:g.128484112G>A | - | | | NM_001458.5(FLNC):c.2994A>G (p.Gln998=) | 2318 | FLNC | Likely benign | 558712725 | RCV000649239|RCV002440347; | N | 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:CN230736 | 7 | 128484122 | 128484122 | | | 7:g.128484122A>G | ClinGen:CA4474930 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.2999A>C (p.Asp1000Ala) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1457558516 | RCV001919252|RCV002441043|RCV003401895; | N | 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:614065, Orphanet:63273|MedGen:CN230736| | 7 | 128484127 | 128484127 | | | 128484127 | - | | | NM_001458.5(FLNC):c.3000T>C (p.Asp1000=) | 2318 | FLNC | Benign/Likely benign | 184454068 | RCV000249182|RCV000552303|RCV001640514|RCV002436082|RCV002494730; | N | MedGen: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:CN230736 | 7 | 128484128 | 128484128 | | | 7:g.128484128T>C | ClinGen:CA4474931 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3001G>A (p.Val1001Met) | 2318 | FLNC | Uncertain significance | 1037999644 | RCV001204877|RCV002436788; | N | 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:CN230736 | 7 | 128484129 | 128484129 | | | 7:g.128484129G>A | - | | | NM_001458.5(FLNC):c.3004C>T (p.Arg1002Trp) | 2318 | FLNC | Uncertain significance | 555764780 | RCV001222334|RCV002436863|RCV002497758; | N | 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:CN230736|MONDO:MONDO:0014883,MedGen:C431 | 7 | 128484132 | 128484132 | | | 7:g.128484132C>T | - | | | NM_001458.5(FLNC):c.3005G>A (p.Arg1002Gln) | 2318 | FLNC | Uncertain significance | 202039743 | RCV000540744|RCV000658214|RCV003159895; | N | 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:CN517202|MedGen:CN230736 | 7 | 128484133 | 128484133 | | | NC_000007.13:g.128484133G>A | ClinGen:CA4474932 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3006G>A (p.Arg1002=) | 2318 | FLNC | Benign | 61737781 | RCV000402374|RCV000528307|RCV001701987|RCV002436114; | N | MedGen: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:CN230736 | 7 | 128484134 | 128484134 | | | 7:g.128484134G>A | ClinGen:CA4474933 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3006G>C (p.Arg1002=) | 2318 | FLNC | Likely benign | 61737781 | RCV002122195; | N | 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 | 7 | 128484134 | 128484134 | | | 128484134 | - | | | NM_001458.5(FLNC):c.3007A>C (p.Met1003Leu) | 2318 | FLNC | Uncertain significance | 1808453806 | RCV001066189|RCV003317427; | N | 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:CN517202 | 7 | 128484135 | 128484135 | | | 7:g.128484135A>C | - | | | NM_001458.5(FLNC):c.3014C>T (p.Ser1005Leu) | 2318 | FLNC | Uncertain significance | 752448040 | RCV000656160|RCV001859998|RCV002483547; | N | Human 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:C4 | 7 | 128484142 | 128484142 | | | NC_000007.13:g.128484142C>T | ClinGen:CA4474935 | C0043202 194200 Wolff-Parkinson-White pattern; | | NM_001458.5(FLNC):c.3015G>A (p.Ser1005=) | 2318 | FLNC | Likely benign | 1278675439 | RCV002068738|RCV003346252; | N | 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 | 7 | 128484143 | 128484143 | | | 7:g.128484143G>A | - | | | NM_001458.5(FLNC):c.3019del (p.Ser1007fs) | 2318 | FLNC | Pathogenic | 2128936173 | RCV001924894; | N | 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 | 7 | 128484147 | 128484147 | | | 128484146 | - | | | NM_001458.5(FLNC):c.3022C>T (p.Arg1008Cys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 757969015 | RCV000552673|RCV001550424|RCV002506360|RCV002438467; | N | 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:CN517202|MONDO:MONDO:0012289,MedGen:C183 | 7 | 128484150 | 128484150 | | | 7:g.128484150C>T | ClinGen:CA4474936 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3023G>A (p.Arg1008His) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 777492254 | RCV001215020|RCV001751399; | N | 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:CN517202 | 7 | 128484151 | 128484151 | | | 7:g.128484151G>A | - | | | NM_001458.5(FLNC):c.3023G>T (p.Arg1008Leu) | 2318 | FLNC | Uncertain significance | -1 | RCV002301842; | N | 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 | 7 | 128484151 | 128484151 | | | 128484151 | - | | | NM_001458.5(FLNC):c.3025C>T (p.Arg1009Trp) | 2318 | FLNC | Conflicting interpretations of pathogenicity | -1 | RCV002574086|RCV003146582; | N | 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:CN517202 | 7 | 128484153 | 128484153 | | | NC_000007.13:g.128484153C>T | - | | | NM_001458.5(FLNC):c.3025C>G (p.Arg1009Gly) | 2318 | FLNC | Uncertain significance | -1 | RCV002650606; | N | 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 | 7 | 128484153 | 128484153 | | | NC_000007.13:g.128484153C>G | - | | | NM_001458.5(FLNC):c.3026G>A (p.Arg1009Gln) | 2318 | FLNC | Uncertain significance | 375445167 | RCV001773876|RCV001882853; | N | MedGen: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 | 7 | 128484154 | 128484154 | | | 128484154 | - | | | NM_001458.5(FLNC):c.3032T>C (p.Ile1011Thr) | 2318 | FLNC | Uncertain significance | 1808454823 | RCV001219606; | N | 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 | 7 | 128484160 | 128484160 | | | 7:g.128484160T>C | - | | | NM_001458.5(FLNC):c.3033C>T (p.Ile1011=) | 2318 | FLNC | Likely benign | 757092972 | RCV000932274; | N | 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 | 7 | 128484161 | 128484161 | | | 7:g.128484161C>T | - | | | NM_001458.5(FLNC):c.3033C>A (p.Ile1011=) | 2318 | FLNC | Likely benign | 757092972 | RCV002160325; | N | 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 | 7 | 128484161 | 128484161 | | | 128484161 | - | | | NM_001458.5(FLNC):c.3039C>A (p.Cys1013Ter) | 2318 | FLNC | Pathogenic | 1554399014 | RCV000528633|RCV001381192; | N | MedGen: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:63273 | 7 | 128484167 | 128484167 | | | 7:g.128484167C>A | ClinGen:CA369194055 | CN239310 Dilated Cardiomyopathy, Dominant; | | NM_001458.5(FLNC):c.3045G>A (p.Leu1015=) | 2318 | FLNC | Likely benign | 369511914 | RCV002137379|RCV002443193; | N | 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 | 7 | 128484173 | 128484173 | | | 128484173 | - | | | NM_001458.5(FLNC):c.3052G>A (p.Gly1018Ser) | 2318 | FLNC | Uncertain significance | 2128936181 | RCV002006210; | N | 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 | 7 | 128484180 | 128484180 | | | 128484180 | - | | | NM_001458.5(FLNC):c.3054C>T (p.Gly1018=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 769624093 | RCV000176052|RCV000649237|RCV002444705; | N | 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:CN230736 | 7 | 128484182 | 128484182 | | | 7:g.128484182C>T | ClinGen:CA241918 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3054C>A (p.Gly1018=) | 2318 | FLNC | Likely benign | 769624093 | RCV002126080; | N | MONDO:MONDO: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 | 7 | 128484182 | 128484182 | | | 128484182 | - | | | NM_001458.5(FLNC):c.3055G>T (p.Gly1019Cys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 200864007 | RCV000533220|RCV002497175|RCV002448764; | N | 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:MONDO:0012289,MedGen:C1836050,OMIM:609524 | 7 | 128484183 | 128484183 | | | NC_000007.13:g.128484183G>T | ClinGen:CA4474944 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3055G>A (p.Gly1019Ser) | 2318 | FLNC | Likely benign | 200864007 | RCV000649217|RCV001579748|RCV002449073; | N | 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:C3661900|MedGen:CN230736 | 7 | 128484183 | 128484183 | | | 7:g.128484183G>A | ClinGen:CA4474943 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3057T>C (p.Gly1019=) | 2318 | FLNC | Likely benign | 2128936183 | RCV002443134|RCV002205150; | N | 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:63273 | 7 | 128484185 | 128484185 | | | 128484185 | - | | | NM_001458.5(FLNC):c.3058G>A (p.Gly1020Arg) | 2318 | FLNC | Uncertain significance | 2128936185 | RCV001972095|RCV003320858; | N | 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:614065, Orphanet:63273|MedGen:C3661900 | 7 | 128484186 | 128484186 | | | 128484186 | - | | | NM_001458.5(FLNC):c.3062C>T (p.Ala1021Val) | 2318 | FLNC | Uncertain significance | 574118437 | RCV000545694|RCV002448765|RCV001561486; | N | 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:C3661900 | 7 | 128484190 | 128484190 | | | 7:g.128484190C>T | ClinGen:CA4474945 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3063G>A (p.Ala1021=) | 2318 | FLNC | Likely benign | 774361595 | RCV001483030|RCV003434269|RCV002449277; | N | 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:C3661900|MedGen:CN230736 | 7 | 128484191 | 128484191 | | | 128484191 | - | | | NM_001458.5(FLNC):c.3065A>C (p.Glu1022Ala) | 2318 | FLNC | Uncertain significance | 1808455747 | RCV001068873; | N | 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 | 7 | 128484193 | 128484193 | | | 7:g.128484193A>C | - | | | NM_001458.5(FLNC):c.3067G>C (p.Ala1023Pro) | 2318 | FLNC | Uncertain significance | 376107866 | RCV000793929; | N | 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 | 7 | 128484195 | 128484195 | | | 7:g.128484195G>C | - | | | NM_001458.5(FLNC):c.3067G>A (p.Ala1023Thr) | 2318 | FLNC | Uncertain significance | 376107866 | RCV001903905; | N | 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 | 7 | 128484195 | 128484195 | | | 128484195 | - | | | NM_001458.5(FLNC):c.3069C>G (p.Ala1023=) | 2318 | FLNC | Likely benign | 1022641897 | RCV000553588; | N | 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 | 7 | 128484197 | 128484197 | | | 7:g.128484197C>G | ClinGen:CA166177717 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3070C>T (p.Gln1024Ter) | 2318 | FLNC | Pathogenic | 2128936189 | RCV001384942; | N | 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 | 7 | 128484198 | 128484198 | | | 128484198 | - | | | NM_001458.5(FLNC):c.3079C>T (p.Arg1027Cys) | 2318 | FLNC | Uncertain significance | 541775814 | RCV001299769|RCV002319696; | N | 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:CN230736 | 7 | 128484207 | 128484207 | | | 128484207 | - | | | NM_001458.5(FLNC):c.3080G>A (p.Arg1027His) | 2318 | FLNC | Uncertain significance | 904161285 | RCV001920049|RCV002319734|RCV003146317; | N | 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:CN230736|MedGen:C3661900 | 7 | 128484208 | 128484208 | | | 128484208 | - | | | NM_001458.5(FLNC):c.3081C>A (p.Arg1027=) | 2318 | FLNC | Likely benign | 1554399030 | RCV000530138; | N | 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 | 7 | 128484209 | 128484209 | | | 7:g.128484209C>A | ClinGen:CA457847957 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3084C>A (p.Tyr1028Ter) | 2318 | FLNC | Pathogenic | 761978559 | RCV001043745; | N | 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 | 7 | 128484212 | 128484212 | | | 7:g.128484212C>A | - | | | NM_001458.5(FLNC):c.3085A>G (p.Met1029Val) | 2318 | FLNC | Uncertain significance | 369078760 | RCV000547281; | N | 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 | 7 | 128484213 | 128484213 | | | 7:g.128484213A>G | ClinGen:CA4474948 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3088C>A (p.Pro1030Thr) | 2318 | FLNC | Uncertain significance | 1554399034 | RCV000559554; | N | 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 | 7 | 128484216 | 128484216 | | | NC_000007.13:g.128484216C>A | ClinGen:CA369194273 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3092del (p.Pro1031fs) | 2318 | FLNC | Pathogenic | -1 | RCV003061562; | N | 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 | 7 | 128484216 | 128484216 | | | NC_000007.13:g.128484220del | - | | | NM_001458.5(FLNC):c.3089C>G (p.Pro1030Arg) | 2318 | FLNC | Uncertain significance | 2128936198 | RCV001875696|RCV003303297; | N | 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:CN230736 | 7 | 128484217 | 128484217 | | | 128484217 | - | | | NM_001458.5(FLNC):c.3090C>T (p.Pro1030=) | 2318 | FLNC | Likely benign | 760926290 | RCV000830807|RCV001081733|RCV001700311|RCV002319943; | N | 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:63273|MedGen:CN169374|MedGen:CN230736 | 7 | 128484218 | 128484218 | | | 7:g.128484218C>T | - | | | NM_001458.5(FLNC):c.3092C>A (p.Pro1031Gln) | 2318 | FLNC | Likely benign | 372467579 | RCV000685414; | N | 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 | 7 | 128484220 | 128484220 | | | NC_000007.13:g.128484220C>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3092C>T (p.Pro1031Leu) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 372467579 | RCV000793885|RCV002325504; | N | 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 | 7 | 128484220 | 128484220 | | | 7:g.128484220C>T | - | | | NM_001458.5(FLNC):c.3092C>G (p.Pro1031Arg) | 2318 | FLNC | Uncertain significance | 372467579 | RCV001732408|RCV002539808; | N | MedGen: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 | 7 | 128484220 | 128484220 | | | 128484220 | - | | | NM_001458.5(FLNC):c.3093G>A (p.Pro1031=) | 2318 | FLNC | Uncertain significance | 1203053799 | RCV001245617; | N | 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 | 7 | 128484221 | 128484221 | | | 7:g.128484221G>A | - | | | NM_001458.5(FLNC):c.3096G>C (p.Glu1032Asp) | 2318 | FLNC | Uncertain significance | -1 | RCV002791018|RCV003308287; | N | 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:CN230736 | 7 | 128484224 | 128484224 | | | NC_000007.13:g.128484224G>C | - | | | NM_001458.5(FLNC):c.3102G>T (p.Gly1034=) | 2318 | FLNC | Likely benign | 758066777 | RCV001447882|RCV002322483; | N | 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 | 7 | 128484230 | 128484230 | | | 128484230 | - | | | NM_001458.5(FLNC):c.3111G>A (p.Lys1037=) | 2318 | FLNC | Likely benign | 1808458398 | RCV001506935; | N | 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 | 7 | 128484239 | 128484239 | | | 128484239 | - | | | NM_001458.5(FLNC):c.3114G>A (p.Val1038=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 376516180 | RCV000827366|RCV001488885|RCV002319938; | N | 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:63273|MedGen:CN230736 | 7 | 128484242 | 128484242 | | | 7:g.128484242G>A | - | | | NM_001458.5(FLNC):c.3114G>T (p.Val1038=) | 2318 | FLNC | Likely benign | 376516180 | RCV001446397; | N | 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 | 7 | 128484242 | 128484242 | | | 128484242 | - | | | NM_001458.5(FLNC):c.3115G>A (p.Asp1039Asn) | 2318 | FLNC | Uncertain significance | 1808458838 | RCV001300673; | N | 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 | 7 | 128484243 | 128484243 | | | 128484243 | - | | | NM_001458.5(FLNC):c.3118A>G (p.Ile1040Val) | 2318 | FLNC | Uncertain significance | 759012932 | RCV001241306; | N | 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 | 7 | 128484246 | 128484246 | | | 7:g.128484246A>G | - | | | NM_001458.5(FLNC):c.3122C>T (p.Thr1041Ile) | 2318 | FLNC | Uncertain significance | 557380928 | RCV001068263; | N | 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 | 7 | 128484250 | 128484250 | | | 7:g.128484250C>T | - | | | NM_001458.5(FLNC):c.3126C>T (p.Tyr1042=) | 2318 | FLNC | Likely benign | 745872537 | RCV001461742|RCV002322507; | N | 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 | 7 | 128484254 | 128484254 | | | 128484254 | - | | | NM_001458.5(FLNC):c.3127G>A (p.Asp1043Asn) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 755896041 | RCV001236122|RCV002322131; | N | 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:CN230736 | 7 | 128484255 | 128484255 | | | 7:g.128484255G>A | - | | | NM_001458.5(FLNC):c.3129T>C (p.Asp1043=) | 2318 | FLNC | Likely benign | 1160980989 | RCV001455799; | N | 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 | 7 | 128484257 | 128484257 | | | 128484257 | - | | | NM_001458.5(FLNC):c.3133C>A (p.His1045Asn) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 201863231 | RCV000497327|RCV000701577|RCV002323864|RCV002506207; | N | MedGen: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:001 | 7 | 128484261 | 128484261 | | | 7:g.128484261C>A | ClinGen:CA4474960 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3135C>T (p.His1045=) | 2318 | FLNC | Likely benign | 988307328 | RCV002110235; | N | 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 | 7 | 128484263 | 128484263 | | | 128484263 | - | | | NM_001458.5(FLNC):c.3136C>G (p.Pro1046Ala) | 2318 | FLNC | Uncertain significance | 749099313 | RCV001070296; | N | 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 | 7 | 128484264 | 128484264 | | | 7:g.128484264C>G | - | | | NM_001458.5(FLNC):c.3137C>T (p.Pro1046Leu) | 2318 | FLNC | Uncertain significance | 768820218 | RCV000813817|RCV002292584|RCV003279094; | N | 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:CN230736 | 7 | 128484265 | 128484265 | | | 7:g.128484265C>T | - | | | NM_001458.5(FLNC):c.3138G>A (p.Pro1046=) | 2318 | FLNC | Benign/Likely benign | 369739262 | RCV000876270|RCV001698134|RCV002323617; | N | 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:C3661900|MedGen:CN230736 | 7 | 128484266 | 128484266 | | | 7:g.128484266G>A | ClinGen:CA4474963 | CN169374 not specified; | | NM_001458.5(FLNC):c.3141G>C (p.Val1047=) | 2318 | FLNC | Likely benign | 1554399057 | RCV000649253; | N | 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 | 7 | 128484269 | 128484269 | | | 7:g.128484269G>C | ClinGen:CA457847988 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3141G>A (p.Val1047=) | 2318 | FLNC | Likely benign | 1554399057 | RCV002093861; | N | 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 | 7 | 128484269 | 128484269 | | | 128484269 | - | | | NM_001458.5(FLNC):c.3142C>T (p.Pro1048Ser) | 2318 | FLNC | Uncertain significance | -1 | RCV003014596; | N | 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 | 7 | 128484270 | 128484270 | | | NC_000007.13:g.128484270C>T | - | | | NM_001458.5(FLNC):c.3143C>T (p.Pro1048Leu) | 2318 | FLNC | Uncertain significance | 2128936216 | RCV001940128; | N | 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 | 7 | 128484271 | 128484271 | | | 128484271 | - | | | NM_001458.5(FLNC):c.3145_3146delinsTT (p.Gly1049Phe) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1585159401 | RCV000815069|RCV002487789|RCV003279097; | N | 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:C4310749,OMIM:617047 | 7 | 128484273 | 128484274 | | | NC_000007.13:g.128484273_128484274delinsTT | - | | | NM_001458.5(FLNC):c.3148A>G (p.Ser1050Gly) | 2318 | FLNC | Likely benign | 773580485 | RCV000535742; | N | 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 | 7 | 128484276 | 128484276 | | | NC_000007.13:g.128484276A>G | ClinGen:CA4474966 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3152C>T (p.Pro1051Leu) | 2318 | FLNC | Uncertain significance | 546130026 | RCV000696672; | N | 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 | 7 | 128484280 | 128484280 | | | NC_000007.13:g.128484280C>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3153G>A (p.Pro1051=) | 2318 | FLNC | Likely benign | 373694043 | RCV000877076|RCV001593110|RCV002320054|RCV003150367; | N | 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:CN517202|MedGen:CN230736|Human Phenotype | 7 | 128484281 | 128484281 | | | 7:g.128484281G>A | - | | | NM_001458.5(FLNC):c.3153G>T (p.Pro1051=) | 2318 | FLNC | Likely benign | 373694043 | RCV001412283; | N | MONDO:MONDO: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 | 7 | 128484281 | 128484281 | | | 128484281 | - | | | NM_001458.5(FLNC):c.3160G>A (p.Val1054Met) | 2318 | FLNC | Uncertain significance | -1 | RCV002903813; | N | 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 | 7 | 128484288 | 128484288 | | | NC_000007.13:g.128484288G>A | - | | | NM_001458.5(FLNC):c.3166G>A (p.Gly1056Ser) | 2318 | FLNC | Uncertain significance | 1287987501 | RCV002045715; | N | 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 | 7 | 128484294 | 128484294 | | | 128484294 | - | | | NM_001458.5(FLNC):c.3167G>A (p.Gly1056Asp) | 2318 | FLNC | Uncertain significance | 763807492 | RCV002024962; | N | 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 | 7 | 128484295 | 128484295 | | | 128484295 | - | | | NM_001458.5(FLNC):c.3175C>G (p.Pro1059Ala) | 2318 | FLNC | Uncertain significance | 767119310 | RCV001907663; | N | 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 | 7 | 128484303 | 128484303 | | | 128484303 | - | | | NM_001458.5(FLNC):c.3179del (p.Pro1060fs) | 2318 | FLNC | Pathogenic | -1 | RCV002856153; | N | 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 | 7 | 128484303 | 128484303 | | | NC_000007.13:g.128484307del | - | | | NM_001458.5(FLNC):c.3177C>T (p.Pro1059=) | 2318 | FLNC | Likely benign | -1 | RCV002690080; | N | 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 | 7 | 128484305 | 128484305 | | | | - | | | NM_001458.5(FLNC):c.3178C>G (p.Pro1060Ala) | 2318 | FLNC | Uncertain significance | 2128936236 | RCV001973769|RCV003170293; | N | 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|MeSH:D030342,MedGen:C0950123 | 7 | 128484306 | 128484306 | | | 128484306 | - | | | NM_001458.5(FLNC):c.3180del (p.Asp1061fs) | 2318 | FLNC | Pathogenic/Likely pathogenic | 1064795229 | RCV000483656|RCV000701770; | N | MedGen: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 | 7 | 128484308 | 128484308 | | | 7:g.128484308_128484308del | ClinGen:CA16618352 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3186C>T (p.Pro1062=) | 2318 | FLNC | Likely benign | 749902294 | RCV001465330|RCV002322510; | N | 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 | 7 | 128484314 | 128484314 | | | 128484314 | - | | | NM_001458.5(FLNC):c.3187T>C (p.Ser1063Pro) | 2318 | FLNC | Uncertain significance | -1 | RCV002829964; | N | 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 | 7 | 128484315 | 128484315 | | | NC_000007.13:g.128484315T>C | - | | | NM_001458.5(FLNC):c.3192+17T>C | 2318 | FLNC | Likely benign | 2128936246 | RCV002092813; | N | 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 | 7 | 128484337 | 128484337 | | | 128484337 | - | | | NM_001458.5(FLNC):c.3192+19G>A | 2318 | FLNC | Likely benign | 1162838049 | RCV002145298; | N | 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 | 7 | 128484339 | 128484339 | | | 128484339 | - | | | NM_001458.5(FLNC):c.3193-13C>T | 2318 | FLNC | Likely benign | -1 | RCV002781291; | N | 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 | 7 | 128484699 | 128484699 | | | NC_000007.13:g.128484699C>T | - | | | NM_001458.5(FLNC):c.3193-5C>T | 2318 | FLNC | Likely benign | 1808477946 | RCV001426195; | N | 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 | 7 | 128484707 | 128484707 | | | 128484707 | - | | | NM_001458.5(FLNC):c.3193-2A>G | 2318 | FLNC | Conflicting interpretations of pathogenicity | 749889670 | RCV000695584|RCV002442465|RCV002507212|RCV003318627; | N | 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|MONDO:MONDO:0014883,MedGen:C431 | 7 | 128484710 | 128484710 | | | NC_000007.13:g.128484710A>G | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3201T>G (p.Ala1067=) | 2318 | FLNC | Benign/Likely benign | 760214102 | RCV000542941|RCV002324025; | N | 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:CN230736 | 7 | 128484720 | 128484720 | | | NC_000007.13:g.128484720T>G | ClinGen:CA4474993 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3201T>C (p.Ala1067=) | 2318 | FLNC | Likely benign | 760214102 | RCV002207071; | N | 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 | 7 | 128484720 | 128484720 | | | 128484720 | - | | | NM_001458.5(FLNC):c.3207C>T (p.Gly1069=) | 2318 | FLNC | Likely benign | 753825183 | RCV000649248|RCV002449074; | N | 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:CN230736 | 7 | 128484726 | 128484726 | | | 7:g.128484726C>T | ClinGen:CA166178268 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3209C>T (p.Pro1070Leu) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 370391049 | RCV000649094|RCV001756082|RCV002325296|RCV003420137; | N | 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:CN230736| | 7 | 128484728 | 128484728 | | | 7:g.128484728C>T | ClinGen:CA4474996 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3210G>A (p.Pro1070=) | 2318 | FLNC | Likely benign | -1 | RCV002999742; | N | 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 | 7 | 128484729 | 128484729 | | | | - | | | NM_001458.5(FLNC):c.3217A>C (p.Lys1073Gln) | 2318 | FLNC | Uncertain significance | 2128936345 | RCV002021816; | N | 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 | 7 | 128484736 | 128484736 | | | 128484736 | - | | | NM_001458.5(FLNC):c.3221dup (p.Gly1075fs) | 2318 | FLNC | Pathogenic | 2128936346 | RCV001926381; | N | 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 | 7 | 128484737 | 128484738 | | | 128484737 | - | | | NM_001458.5(FLNC):c.3226C>T (p.Leu1076=) | 2318 | FLNC | Likely benign | 777887406 | RCV001465156; | N | 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 | 7 | 128484745 | 128484745 | | | 128484745 | - | | | NM_001458.5(FLNC):c.3234C>T (p.Gly1078=) | 2318 | FLNC | Uncertain significance | 1808479678 | RCV001209204; | N | 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 | 7 | 128484753 | 128484753 | | | 7:g.128484753C>T | - | | | NM_001458.5(FLNC):c.3236C>A (p.Thr1079Asn) | 2318 | FLNC | Uncertain significance | 2128936356 | RCV001959998; | N | 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 | 7 | 128484755 | 128484755 | | | 128484755 | - | | | NM_001458.5(FLNC):c.3238C>T (p.Pro1080Ser) | 2318 | FLNC | Uncertain significance | 950648783 | RCV001204795|RCV001376040; | N | 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:0013550,MedGen:C3279722,OMIM:614065 | 7 | 128484757 | 128484757 | | | 7:g.128484757C>T | - | | | NM_001458.5(FLNC):c.3240C>T (p.Pro1080=) | 2318 | FLNC | Likely benign | 570290798 | RCV001422013|RCV002324026; | N | 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 | 7 | 128484759 | 128484759 | | | NC_000007.13:g.128484759C>T | ClinGen:CA4475002 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3241G>A (p.Ala1081Thr) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 781760817 | RCV000535936|RCV001569474|RCV002448766; | N | 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:CN517202|MedGen:CN230736 | 7 | 128484760 | 128484760 | | | 7:g.128484760G>A | ClinGen:CA4475003 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3241G>T (p.Ala1081Ser) | 2318 | FLNC | Likely benign | 781760817 | RCV000797452; | N | 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 | 7 | 128484760 | 128484760 | | | 7:g.128484760G>T | - | | | NM_001458.5(FLNC):c.3242C>T (p.Ala1081Val) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 200169573 | RCV000649184|RCV000762481|RCV001196412|RCV002325300; | N | 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:C3661900|MONDO:MONDO:0014883,MedGen:C431 | 7 | 128484761 | 128484761 | | | 7:g.128484761C>T | ClinGen:CA4475005 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3243G>A (p.Ala1081=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 534482249 | RCV000176185|RCV001088404|RCV002321695; | N | 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:CN230736 | 7 | 128484762 | 128484762 | | | 7:g.128484762G>A | ClinGen:CA242061 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3243G>T (p.Ala1081=) | 2318 | FLNC | Likely benign | 534482249 | RCV002141477; | N | 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 | 7 | 128484762 | 128484762 | | | 128484762 | - | | | NM_001458.5(FLNC):c.3246A>G (p.Pro1082=) | 2318 | FLNC | Likely benign | -1 | RCV002627916; | N | 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 | 7 | 128484765 | 128484765 | | | | - | | | NM_001458.5(FLNC):c.3247T>C (p.Phe1083Leu) | 2318 | FLNC | Uncertain significance | 1354409050 | RCV001877363|RCV002324267; | N | MONDO:MONDO: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:CN230736 | 7 | 128484766 | 128484766 | | | 128484766 | - | | | NM_001458.5(FLNC):c.3247T>A (p.Phe1083Ile) | 2318 | FLNC | Uncertain significance | 1354409050 | RCV001908404|RCV003334401; | N | 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| | 7 | 128484766 | 128484766 | | | 128484766 | - | | | NM_001458.5(FLNC):c.3255C>T (p.Ile1085=) | 2318 | FLNC | Likely benign | 771719713 | RCV000956207|RCV002320171|RCV003331007; | N | 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:CN230736|MedGen:CN169374 | 7 | 128484774 | 128484774 | | | 7:g.128484774C>T | - | | | NM_001458.5(FLNC):c.3256G>A (p.Asp1086Asn) | 2318 | FLNC | Uncertain significance | 369398096 | RCV001309505; | N | 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 | 7 | 128484775 | 128484775 | | | 128484775 | - | | | NM_001458.5(FLNC):c.3257_3258delinsTA (p.Asp1086Val) | 2318 | FLNC | Uncertain significance | 2128936367 | RCV001980494; | N | 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 | 7 | 128484776 | 128484777 | | | 128484776 | - | | | NM_001458.5(FLNC):c.3260C>G (p.Thr1087Ser) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 372205719 | RCV000649121|RCV002325298|RCV003441996; | N | MONDO:MONDO: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 | 7 | 128484779 | 128484779 | | | 7:g.128484779C>G | ClinGen:CA166178312 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3264G>A (p.Lys1088=) | 2318 | FLNC | Uncertain significance | 1808481662 | RCV001340611; | N | 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 | 7 | 128484783 | 128484783 | | | 128484783 | - | | | NM_001458.5(FLNC):c.3265G>A (p.Gly1089Arg) | 2318 | FLNC | Uncertain significance | 1554399171 | RCV000649084; | N | 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 | 7 | 128484784 | 128484784 | | | 7:g.128484784G>A | ClinGen:CA369196333 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3266G>A (p.Gly1089Glu) | 2318 | FLNC | Uncertain significance | 1258543242 | RCV001315402; | N | 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 | 7 | 128484785 | 128484785 | | | 128484785 | - | | | NM_001458.5(FLNC):c.3267G>T (p.Gly1089=) | 2318 | FLNC | Likely benign | -1 | RCV002881992; | N | 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 | 7 | 128484786 | 128484786 | | | | - | | | NM_001458.5(FLNC):c.3268G>T (p.Ala1090Ser) | 2318 | FLNC | Uncertain significance | 760158891 | RCV002045493|RCV003269074; | N | 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|MeSH:D030342,MedGen:C0950123 | 7 | 128484787 | 128484787 | | | 128484787 | - | | | NM_001458.5(FLNC):c.3275C>A (p.Thr1092Lys) | 2318 | FLNC | Uncertain significance | 1405189650 | RCV001351073|RCV002322302; | N | 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:CN230736 | 7 | 128484794 | 128484794 | | | 128484794 | - | | | NM_001458.5(FLNC):c.3278G>A (p.Gly1093Asp) | 2318 | FLNC | Uncertain significance | 1374868566 | RCV001352347|RCV002447441; | N | 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:CN230736 | 7 | 128484797 | 128484797 | | | 128484797 | - | | | NM_001458.5(FLNC):c.3289C>T (p.Leu1097=) | 2318 | FLNC | Likely benign | 1585159939 | RCV001456820; | N | 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 | 7 | 128484808 | 128484808 | | | 7:g.128484808C>T | - | | | NM_001458.5(FLNC):c.3294C>T (p.Thr1098=) | 2318 | FLNC | Likely benign | 753772262 | RCV000908304|RCV001422463|RCV003307677; | N | MedGen: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:CN230736 | 7 | 128484813 | 128484813 | | | 7:g.128484813C>T | - | | | NM_001458.5(FLNC):c.3295G>A (p.Val1099Ile) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 759452636 | RCV000487754|RCV001368325|RCV002323848|RCV003150239; | N | 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:63273|MedGen:CN230736|Human Phenotype | 7 | 128484814 | 128484814 | | | 7:g.128484814G>A | ClinGen:CA4475012 | CN517202 not provided; | | NM_001458.5(FLNC):c.3297A>G (p.Val1099=) | 2318 | FLNC | Benign | 3734973 | RCV000117069|RCV000711679|RCV001520068|RCV002453430; | N | MedGen: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:CN230736 | 7 | 128484816 | 128484816 | | | 7:g.128484816A>G | ClinGen:CA152844 | CN169374 not specified; | | NM_001458.5(FLNC):c.3300G>A (p.Glu1100=) | 2318 | FLNC | Likely benign | 1313856787 | RCV002172323|RCV002324522; | N | 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 | 7 | 128484819 | 128484819 | | | 128484819 | - | | | NM_001458.5(FLNC):c.3303C>T (p.Gly1101=) | 2318 | FLNC | Likely benign | 568106945 | RCV001467235; | N | 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 | 7 | 128484822 | 128484822 | | | 7:g.128484822C>T | - | | | NM_001458.5(FLNC):c.3304C>T (p.Pro1102Ser) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 199707920 | RCV000649155|RCV001265885|RCV002051873|RCV002458122|RCV003150321; | N | 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|MeSH:D030342,MedGen:C0950123|MedGen:CN517202|Me | 7 | 128484823 | 128484823 | | | 7:g.128484823C>T | ClinGen:CA4475013 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3308G>A (p.Cys1103Tyr) | 2318 | FLNC | Uncertain significance | 1238364459 | RCV001902403; | N | 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:614065, Orphanet:63273 | 7 | 128484827 | 128484827 | | | 128484827 | - | | | NM_001458.5(FLNC):c.3309C>T (p.Cys1103=) | 2318 | FLNC | Benign/Likely benign | -1 | RCV002326271|RCV003102351; | N | MedGen: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:CN239310 | 7 | 128484828 | 128484828 | | | | - | | | NM_001458.5(FLNC):c.3310G>A (p.Glu1104Lys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 535109443 | RCV001066386|RCV001570850|RCV003160546; | N | 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:C3661900|MedGen:CN230736 | 7 | 128484829 | 128484829 | | | 7:g.128484829G>A | - | | | NM_001458.5(FLNC):c.3312G>A (p.Glu1104=) | 2318 | FLNC | Likely benign | -1 | RCV002326329|RCV003099388; | N | MedGen: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:CN239310 | 7 | 128484831 | 128484831 | | | | - | | | NM_001458.5(FLNC):c.3313G>T (p.Ala1105Ser) | 2318 | FLNC | Uncertain significance | 751887771 | RCV001337288; | N | 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 | 7 | 128484832 | 128484832 | | | 128484832 | - | | | NM_001458.5(FLNC):c.3317A>G (p.Lys1106Arg) | 2318 | FLNC | Uncertain significance | 1349933620 | RCV002011726; | N | 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 | 7 | 128484836 | 128484836 | | | 128484836 | - | | | NM_001458.5(FLNC):c.3321C>T (p.Ile1107=) | 2318 | FLNC | Likely benign | 775641996 | RCV000874277|RCV002320039; | N | 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 | 7 | 128484840 | 128484840 | | | 7:g.128484840C>T | - | | | NM_001458.5(FLNC):c.3322G>A (p.Glu1108Lys) | 2318 | FLNC | Uncertain significance | 781352216 | RCV001225140; | N | 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 | 7 | 128484841 | 128484841 | | | 7:g.128484841G>A | - | | | NM_001458.5(FLNC):c.3324G>A (p.Glu1108=) | 2318 | FLNC | Likely benign | -1 | RCV002694790; | N | 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 | 7 | 128484843 | 128484843 | | | | - | | | NM_001458.5(FLNC):c.3339T>G (p.Gly1113=) | 2318 | FLNC | Likely benign | 756592172 | RCV002171835; | N | 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 | 7 | 128484858 | 128484858 | | | 128484858 | - | | | NM_001458.5(FLNC):c.3342T>C (p.Asp1114=) | 2318 | FLNC | Likely benign | 2128936400 | RCV001465086; | N | 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 | 7 | 128484861 | 128484861 | | | 128484861 | - | | | NM_001458.5(FLNC):c.3344G>A (p.Gly1115Asp) | 2318 | FLNC | Uncertain significance | 2128936401 | RCV001888476; | N | 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:614065, Orphanet:63273 | 7 | 128484863 | 128484863 | | | 128484863 | - | | | NM_001458.5(FLNC):c.3348A>T (p.Ser1116=) | 2318 | FLNC | Likely benign | 1053209205 | RCV000979584|RCV002320190; | N | MONDO:MONDO: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:CN230736 | 7 | 128484867 | 128484867 | | | 7:g.128484867A>T | - | | | NM_001458.5(FLNC):c.3350G>T (p.Cys1117Phe) | 2318 | FLNC | Uncertain significance | -1 | RCV003026183; | N | 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 | 7 | 128484869 | 128484869 | | | NC_000007.13:g.128484869G>T | - | | | NM_001458.5(FLNC):c.3353C>T (p.Ala1118Val) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 780461379 | RCV001976944|RCV002324452|RCV003146453; | N | 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:CN230736|MedGen:C3661900 | 7 | 128484872 | 128484872 | | | 128484872 | - | | | NM_001458.5(FLNC):c.3354T>C (p.Ala1118=) | 2318 | FLNC | Likely benign | 2128936403 | RCV001425497; | N | 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 | 7 | 128484873 | 128484873 | | | 128484873 | - | | | NM_001458.5(FLNC):c.3358A>G (p.Ser1120Gly) | 2318 | FLNC | Uncertain significance | 749637616 | RCV001204803; | N | 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 | 7 | 128484877 | 128484877 | | | 7:g.128484877A>G | - | | | NM_001458.5(FLNC):c.3366G>A (p.Leu1122=) | 2318 | FLNC | Likely benign | -1 | RCV002712125; | N | 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 | 7 | 128484885 | 128484885 | | | | - | | | NM_001458.5(FLNC):c.3371C>A (p.Thr1124Lys) | 2318 | FLNC | Uncertain significance | 375013141 | RCV001309555; | N | 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 | 7 | 128484890 | 128484890 | | | 128484890 | - | | | NM_001458.5(FLNC):c.3371C>T (p.Thr1124Met) | 2318 | FLNC | Uncertain significance | 375013141 | RCV001299891; | N | 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 | 7 | 128484890 | 128484890 | | | 128484890 | - | | | NM_001458.5(FLNC):c.3372G>A (p.Thr1124=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 556913973 | RCV000519790|RCV001373804; | N | 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:171445 | 7 | 128484891 | 128484891 | | | 7:g.128484891G>A | ClinGen:CA4475026 | CN169374 not specified; | | NM_001458.5(FLNC):c.3375G>A (p.Glu1125=) | 2318 | FLNC | Likely benign | 1317937683 | RCV002075834; | N | 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 | 7 | 128484894 | 128484894 | | | 128484894 | - | | | NM_001458.5(FLNC):c.3376C>G (p.Pro1126Ala) | 2318 | FLNC | Uncertain significance | 748785077 | RCV000689993|RCV002458223|RCV003150331; | N | 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:CN230736|Human Phenotype Ontology:HP:000 | 7 | 128484895 | 128484895 | | | NC_000007.13:g.128484895C>G | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3377C>G (p.Pro1126Arg) | 2318 | FLNC | Uncertain significance | 1808488088 | RCV001226606; | N | 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 | 7 | 128484896 | 128484896 | | | 7:g.128484896C>G | - | | | NM_001458.5(FLNC):c.3381C>T (p.Gly1127=) | 2318 | FLNC | Likely benign | 1052000080 | RCV001044727; | N | 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 | 7 | 128484900 | 128484900 | | | 7:g.128484900C>T | - | | | NM_001458.5(FLNC):c.3381C>A (p.Gly1127=) | 2318 | FLNC | Likely benign | 1052000080 | RCV001459203|RCV002456778; | N | 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:614065, Orphanet:63273|MedGen:CN230736 | 7 | 128484900 | 128484900 | | | 128484900 | - | | | NM_001458.5(FLNC):c.3382G>A (p.Glu1128Lys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 145724410 | RCV001215776|RCV002451474|RCV003145399; | N | 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|MedGen:C3661900 | 7 | 128484901 | 128484901 | | | 7:g.128484901G>A | - | | | NM_001458.5(FLNC):c.3384G>A (p.Glu1128=) | 2318 | FLNC | Likely benign | 2128936416 | RCV001447681; | N | 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 | 7 | 128484903 | 128484903 | | | 128484903 | - | | | NM_001458.5(FLNC):c.3387C>T (p.Tyr1129=) | 2318 | FLNC | Likely benign | 765189701 | RCV000933944; | N | 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 | 7 | 128484906 | 128484906 | | | 7:g.128484906C>T | - | | | NM_001458.5(FLNC):c.3391A>G (p.Ile1131Val) | 2318 | FLNC | Uncertain significance | 773110786 | RCV001210609; | N | 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 | 7 | 128484910 | 128484910 | | | 7:g.128484910A>G | - | | | NM_001458.5(FLNC):c.3395A>G (p.Asn1132Ser) | 2318 | FLNC | Uncertain significance | 2128936421 | RCV001914630; | N | 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:614065, Orphanet:63273 | 7 | 128484914 | 128484914 | | | 128484914 | - | | | NM_001458.5(FLNC):c.3402G>C (p.Leu1134=) | 2318 | FLNC | Likely benign | 1185395026 | RCV001501953; | N | 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 | 7 | 128484921 | 128484921 | | | 128484921 | - | | | NM_001458.5(FLNC):c.3402G>A (p.Leu1134=) | 2318 | FLNC | Likely benign | -1 | RCV003010067; | N | 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 | 7 | 128484921 | 128484921 | | | | - | | | NM_001458.5(FLNC):c.3405T>C (p.Phe1135=) | 2318 | FLNC | Likely benign | 775337940 | RCV001486099|RCV002454028; | N | 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 | 7 | 128484924 | 128484924 | | | 7:g.128484924T>C | - | | | NM_001458.5(FLNC):c.3407C>T (p.Ala1136Val) | 2318 | FLNC | Uncertain significance | 762793681 | RCV002014663|RCV002492103; | N | 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|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524 | 7 | 128484926 | 128484926 | | | 128484926 | - | | | NM_001458.5(FLNC):c.3415del (p.His1139fs) | 2318 | FLNC | Pathogenic | 1808489575 | RCV001065920; | N | 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 | 7 | 128484932 | 128484932 | | | 7:g.128484932_128484932del | - | | | NM_001458.5(FLNC):c.3414C>T (p.Ala1138=) | 2318 | FLNC | Likely benign | 751401489 | RCV001422567; | N | 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 | 7 | 128484933 | 128484933 | | | 128484933 | - | | | NM_001458.5(FLNC):c.3415C>T (p.His1139Tyr) | 2318 | FLNC | Uncertain significance | 1562996847 | RCV000706434; | N | 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 | 7 | 128484934 | 128484934 | | | 7:g.128484934C>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3417C>T (p.His1139=) | 2318 | FLNC | Likely benign | -1 | RCV003093729; | N | 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 | 7 | 128484936 | 128484936 | | | | - | | | NM_001458.5(FLNC):c.3418A>G (p.Ile1140Val) | 2318 | FLNC | Uncertain significance | 2128936425 | RCV001976643; | N | 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 | 7 | 128484937 | 128484937 | | | 128484937 | - | | | NM_001458.5(FLNC):c.3426C>T (p.Gly1142=) | 2318 | FLNC | Benign/Likely benign | 201313781 | RCV000524985|RCV002456214; | N | 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 | 7 | 128484945 | 128484945 | | | 7:g.128484945C>T | ClinGen:CA4475036 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3428C>T (p.Ser1143Leu) | 2318 | FLNC | Uncertain significance | 756192123 | RCV000537571|RCV003456413; | N | 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 | 7 | 128484947 | 128484947 | | | 7:g.128484947C>T | ClinGen:CA4475037 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3429G>A (p.Ser1143=) | 2318 | FLNC | Likely benign | 780592878 | RCV002100818|RCV002331723; | N | 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 | 7 | 128484948 | 128484948 | | | 128484948 | - | | | NM_001458.5(FLNC):c.3430C>T (p.Pro1144Ser) | 2318 | FLNC | Uncertain significance | 1585160095 | RCV000809140; | N | 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 | 7 | 128484949 | 128484949 | | | 7:g.128484949C>T | - | | | NM_001458.5(FLNC):c.3431C>T (p.Pro1144Leu) | 2318 | FLNC | Uncertain significance | 200723434 | RCV001218239; | N | 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 | 7 | 128484950 | 128484950 | | | 7:g.128484950C>T | - | | | NM_001458.5(FLNC):c.3431_3432delinsGT (p.Pro1144Arg) | 2318 | FLNC | Uncertain significance | -1 | RCV003052378; | N | 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 | 7 | 128484950 | 128484951 | | | NC_000007.13:g.128484950_128484951delinsGT | - | | | NM_001458.5(FLNC):c.3443C>T (p.Thr1148Ile) | 2318 | FLNC | Uncertain significance | 2128936430 | RCV001371932; | N | 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 | 7 | 128484962 | 128484962 | | | 128484962 | - | | | NM_001458.5(FLNC):c.3443C>G (p.Thr1148Ser) | 2318 | FLNC | Uncertain significance | -1 | RCV002685721; | N | 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 | 7 | 128484962 | 128484962 | | | NC_000007.13:g.128484962C>G | - | | | NM_001458.5(FLNC):c.3448C>T (p.Arg1150Trp) | 2318 | FLNC | Uncertain significance | 779184516 | RCV001208068|RCV001773466|RCV002451446; | N | 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:CN230736 | 7 | 128484967 | 128484967 | | | 7:g.128484967C>T | - | | | NM_001458.5(FLNC):c.3448C>A (p.Arg1150=) | 2318 | FLNC | Likely benign | 779184516 | RCV001442230; | N | 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 | 7 | 128484967 | 128484967 | | | 128484967 | - | | | NM_001458.5(FLNC):c.3448C>G (p.Arg1150Gly) | 2318 | FLNC | Uncertain significance | 779184516 | RCV001925558|RCV003146349; | N | 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 | 7 | 128484967 | 128484967 | | | 128484967 | - | | | NM_001458.5(FLNC):c.3449G>A (p.Arg1150Gln) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 371372377 | RCV001036878|RCV001562864|RCV002460125; | N | 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:CN230736 | 7 | 128484968 | 128484968 | | | 7:g.128484968G>A | - | | | NM_001458.5(FLNC):c.3454G>T (p.Val1152Leu) | 2318 | FLNC | Uncertain significance | 1396046243 | RCV001319436; | N | 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 | 7 | 128484973 | 128484973 | | | 128484973 | - | | | NM_001458.5(FLNC):c.3456G>A (p.Val1152=) | 2318 | FLNC | Likely benign | -1 | RCV002636400; | N | 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 | 7 | 128484975 | 128484975 | | | | - | | | NM_001458.5(FLNC):c.3458T>G (p.Phe1153Cys) | 2318 | FLNC | Uncertain significance | 138663492 | RCV000416211|RCV000649142|RCV003168609; | N | 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:CN230736 | 7 | 128484977 | 128484977 | | | 7:g.128484977T>G | ClinGen:CA4475045 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3458T>A (p.Phe1153Tyr) | 2318 | FLNC | Uncertain significance | -1 | RCV002636401; | N | 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 | 7 | 128484977 | 128484977 | | | NC_000007.13:g.128484977T>A | - | | | NM_001458.5(FLNC):c.3463C>G (p.Pro1155Ala) | 2318 | FLNC | Uncertain significance | 745361779 | RCV001368973; | N | 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 | 7 | 128484982 | 128484982 | | | 128484982 | - | | | NM_001458.5(FLNC):c.3464C>T (p.Pro1155Leu) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 769243979 | RCV000788732|RCV001869210|RCV003411733; | N | MedGen: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| | 7 | 128484983 | 128484983 | | | 7:g.128484983C>T | - | | | NM_001458.5(FLNC):c.3465G>A (p.Pro1155=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 374686347 | RCV000918078|RCV002454096; | N | 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 | 7 | 128484984 | 128484984 | | | 7:g.128484984G>A | - | | | NM_001458.5(FLNC):c.3465G>C (p.Pro1155=) | 2318 | FLNC | Uncertain significance | -1 | RCV002885965; | N | 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 | 7 | 128484984 | 128484984 | | | | - | | | NM_001458.5(FLNC):c.3465G>T (p.Pro1155=) | 2318 | FLNC | Uncertain significance | -1 | RCV003032425; | N | 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 | 7 | 128484984 | 128484984 | | | | - | | | NM_001458.5(FLNC):c.3467G>A (p.Ser1156Asn) | 2318 | FLNC | Uncertain significance | 768725458 | RCV001202875|RCV002460135; | N | 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:CN230736 | 7 | 128484986 | 128484986 | | | 7:g.128484986G>A | - | | | NM_001458.5(FLNC):c.3468C>T (p.Ser1156=) | 2318 | FLNC | Likely benign | -1 | RCV003068986; | N | 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 | 7 | 128484987 | 128484987 | | | | - | | | NM_001458.5(FLNC):c.3475C>T (p.Arg1159Trp) | 2318 | FLNC | Uncertain significance | 760500171 | RCV000416038|RCV000549914|RCV002338978; | N | MedGen: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:CN230736 | 7 | 128484994 | 128484994 | | | 7:g.128484994C>T | ClinGen:CA4475051 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3476G>A (p.Arg1159Gln) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 141199483 | RCV000418627|RCV000812023|RCV003168624; | N | 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:CN230736 | 7 | 128484995 | 128484995 | | | 7:g.128484995G>A | ClinGen:CA4475052 | CN169374 not specified; | | NM_001458.5(FLNC):c.3482_3483delinsTC (p.Ser1161Ile) | 2318 | FLNC | Uncertain significance | -1 | RCV002711028; | N | 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 | 7 | 128485001 | 128485002 | | | NC_000007.13:g.128485001_128485002delinsTC | - | | | NM_001458.5(FLNC):c.3488C>T (p.Pro1163Leu) | 2318 | FLNC | Uncertain significance | 377489161 | RCV000649083|RCV002334177|RCV002464280; | N | 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:CN230736|MedGen:CN517202 | 7 | 128485007 | 128485007 | | | 7:g.128485007C>T | ClinGen:CA4475054 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3488C>A (p.Pro1163Gln) | 2318 | FLNC | Uncertain significance | 377489161 | RCV001060100; | N | 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 | 7 | 128485007 | 128485007 | | | 7:g.128485007C>A | - | | | NM_001458.5(FLNC):c.3489G>C (p.Pro1163=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 369853278 | RCV000294105|RCV001080613|RCV002450815|RCV003150150; | N | MedGen: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 Phenotype | 7 | 128485008 | 128485008 | | | 7:g.128485008G>C | ClinGen:CA4475055 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3489G>A (p.Pro1163=) | 2318 | FLNC | Likely benign | 369853278 | RCV000607093|RCV002063091; | N | MedGen: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 | 7 | 128485008 | 128485008 | | | 7:g.128485008G>A | ClinGen:CA457848337 | CN169374 not specified; | | NM_001458.5(FLNC):c.3499C>T (p.Arg1167Cys) | 2318 | FLNC | Uncertain significance | 766439553 | RCV000696166|RCV000711680|RCV000768503|RCV002458257; | N | 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:CN517202|Human Phenotype Ontology:HP:000 | 7 | 128485018 | 128485018 | | | 7:g.128485018C>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3500G>A (p.Arg1167His) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 574074583 | RCV001056996|RCV003145312; | N | 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:614065, Orphanet:63273|MedGen:C3661900 | 7 | 128485019 | 128485019 | | | 7:g.128485019G>A | - | | | NM_001458.5(FLNC):c.3501C>T (p.Arg1167=) | 2318 | FLNC | Likely benign | 544320561 | RCV000951404|RCV002454182; | N | 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:614065, Orphanet:63273|MedGen:CN230736 | 7 | 128485020 | 128485020 | | | 7:g.128485020C>T | - | | | NM_001458.5(FLNC):c.3502G>A (p.Gly1168Ser) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 199814952 | RCV001309258|RCV001760373|RCV002456400; | N | 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:C3661900|MedGen:CN230736 | 7 | 128485021 | 128485021 | | | 128485021 | - | | | NM_001458.5(FLNC):c.3502G>T (p.Gly1168Cys) | 2318 | FLNC | Uncertain significance | 199814952 | RCV001961978; | N | 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 | 7 | 128485021 | 128485021 | | | 128485021 | - | | | NM_001458.5(FLNC):c.3506A>G (p.Lys1169Arg) | 2318 | FLNC | Benign/Likely benign | 530742766 | RCV000289546|RCV000649192|RCV002338861; | N | MedGen: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:CN230736 | 7 | 128485025 | 128485025 | | | 7:g.128485025A>G | ClinGen:CA4475060 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3510C>T (p.Val1170=) | 2318 | FLNC | Likely benign | 745571747 | RCV000542332|RCV001707737|RCV002456215|RCV003330787; | N | 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:CN230736|MedGen:CN169374 | 7 | 128485029 | 128485029 | | | 7:g.128485029C>T | ClinGen:CA4475063 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3510C>G (p.Val1170=) | 2318 | FLNC | Likely benign | 745571747 | RCV001413659; | N | 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 | 7 | 128485029 | 128485029 | | | 128485029 | - | | | NM_001458.5(FLNC):c.3511G>A (p.Gly1171Ser) | 2318 | FLNC | Uncertain significance | 769490872 | RCV000649107|RCV003329320; | N | 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:CN517202 | 7 | 128485030 | 128485030 | | | 7:g.128485030G>A | ClinGen:CA4475064 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3511G>T (p.Gly1171Cys) | 2318 | FLNC | Uncertain significance | 769490872 | RCV000823716; | N | 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 | 7 | 128485030 | 128485030 | | | 7:g.128485030G>T | - | | | NM_001458.5(FLNC):c.3512G>A (p.Gly1171Asp) | 2318 | FLNC | Uncertain significance | 1298622480 | RCV001245716; | N | 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 | 7 | 128485031 | 128485031 | | | 7:g.128485031G>A | - | | | NM_001458.5(FLNC):c.3512G>T (p.Gly1171Val) | 2318 | FLNC | Uncertain significance | -1 | RCV002300225; | N | 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 | 7 | 128485031 | 128485031 | | | 128485031 | - | | | NM_001458.5(FLNC):c.3513T>C (p.Gly1171=) | 2318 | FLNC | Likely benign | 1259009437 | RCV002174898; | N | 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 | 7 | 128485032 | 128485032 | | | 128485032 | - | | | NM_001458.5(FLNC):c.3518C>T (p.Ala1173Val) | 2318 | FLNC | Uncertain significance | 1229255608 | RCV001036119; | N | 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 | 7 | 128485037 | 128485037 | | | 7:g.128485037C>T | - | | | NM_001458.5(FLNC):c.3529A>G (p.Thr1177Ala) | 2318 | FLNC | Likely benign | 748850596 | RCV000802085; | N | 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 | 7 | 128485048 | 128485048 | | | 7:g.128485048A>G | - | | | NM_001458.5(FLNC):c.3539G>T (p.Cys1180Phe) | 2318 | FLNC | Uncertain significance | 1319931619 | RCV001203585; | N | 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 | 7 | 128485058 | 128485058 | | | 7:g.128485058G>T | - | | | NM_001458.5(FLNC):c.3541T>C (p.Ser1181Pro) | 2318 | FLNC | Uncertain significance | 2128936467 | RCV001363819; | N | 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 | 7 | 128485060 | 128485060 | | | 128485060 | - | | | NM_001458.5(FLNC):c.3552C>G (p.Gly1184=) | 2318 | FLNC | Likely benign | 373310802 | RCV001496241|RCV002454081; | N | 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:CN230736 | 7 | 128485071 | 128485071 | | | 7:g.128485071C>G | - | | | NM_001458.5(FLNC):c.3552C>T (p.Gly1184=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | -1 | RCV002633657|RCV003420388; | N | 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| | 7 | 128485071 | 128485071 | | | | - | | | NM_001458.5(FLNC):c.3553G>A (p.Glu1185Lys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 912926530 | RCV000445151|RCV000702103; | N | MedGen: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 | 7 | 128485072 | 128485072 | | | 7:g.128485072G>A | ClinGen:CA16605647 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3557C>T (p.Ala1186Val) | 2318 | FLNC | Pathogenic/Likely pathogenic | 1114167361 | RCV000492004|RCV000538844|RCV000987973|RCV000763162|RCV001266689|RCV001556592|RCV001814165; | N | MONDO: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:614065 | 7 | 128485076 | 128485076 | | | 7:g.128485076C>T | ClinGen:CA369197234 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3558G>A (p.Ala1186=) | 2318 | FLNC | Likely benign | 774467047 | RCV001593560|RCV002072322|RCV002458547; | N | 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:171445|MedGen:CN230736 | 7 | 128485077 | 128485077 | | | 128485077 | - | | | NM_001458.5(FLNC):c.3564G>A (p.Leu1188=) | 2318 | FLNC | Likely benign | 761683129 | RCV002100488; | N | 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 | 7 | 128485083 | 128485083 | | | 128485083 | - | | | NM_001458.5(FLNC):c.3568A>G (p.Ile1190Val) | 2318 | FLNC | Uncertain significance | 1259241248 | RCV002051235; | N | MONDO:MONDO: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 | 7 | 128485087 | 128485087 | | | 128485087 | - | | | NM_001458.5(FLNC):c.3572A>G (p.Glu1191Gly) | 2318 | FLNC | Uncertain significance | 772055432 | RCV001346096; | N | 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 | 7 | 128485091 | 128485091 | | | 128485091 | - | | | NM_001458.5(FLNC):c.3581C>T (p.Ser1194Leu) | 2318 | FLNC | Uncertain significance | 773481064 | RCV000822200|RCV002453895; | N | 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 | 7 | 128485100 | 128485100 | | | 7:g.128485100C>T | - | | | NM_001458.5(FLNC):c.3582G>A (p.Ser1194=) | 2318 | FLNC | Likely benign | 200712644 | RCV001456374|RCV002454047; | N | 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 | 7 | 128485101 | 128485101 | | | 7:g.128485101G>A | - | | | NM_001458.5(FLNC):c.3588C>T (p.Ala1196=) | 2318 | FLNC | Likely benign | 376078628 | RCV000649245|RCV002334180; | N | 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:CN230736 | 7 | 128485107 | 128485107 | | | 7:g.128485107C>T | ClinGen:CA4475073 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3589G>A (p.Gly1197Arg) | 2318 | FLNC | Uncertain significance | 753812010 | RCV000556230|RCV002307543; | N | 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:CN517202 | 7 | 128485108 | 128485108 | | | 7:g.128485108G>A | ClinGen:CA4475074 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3592G>C (p.Val1198Leu) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 201912847 | RCV000532440|RCV001508593|RCV002341413; | N | 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:CN517202|MedGen:CN230736 | 7 | 128485111 | 128485111 | | | 7:g.128485111G>C | ClinGen:CA4475076 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3595A>G (p.Lys1199Glu) | 2318 | FLNC | Uncertain significance | 753260970 | RCV001996548; | N | 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 | 7 | 128485114 | 128485114 | | | 128485114 | - | | | NM_001458.5(FLNC):c.3599C>T (p.Ala1200Val) | 2318 | FLNC | Uncertain significance | -1 | RCV002473424|RCV002569390; | N | MedGen: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 | 7 | 128485118 | 128485118 | | | NC_000007.13:g.128485118C>T | - | | | NM_001458.5(FLNC):c.3600C>T (p.Ala1200=) | 2318 | FLNC | Likely benign | 777931249 | RCV000649250|RCV003150324; | N | 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|Human Phenotype Ontology:HP:0001638,MONDO:MONDO | 7 | 128485119 | 128485119 | | | 7:g.128485119C>T | ClinGen:CA4475079 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3601G>A (p.Glu1201Lys) | 2318 | FLNC | Uncertain significance | 751963297 | RCV000796704|RCV003144603; | N | 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:CN517202 | 7 | 128485120 | 128485120 | | | 7:g.128485120G>A | - | | | NM_001458.5(FLNC):c.3601G>C (p.Glu1201Gln) | 2318 | FLNC | Uncertain significance | 751963297 | RCV001306221; | N | 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 | 7 | 128485120 | 128485120 | | | 128485120 | - | | | NM_001458.5(FLNC):c.3603G>A (p.Glu1201=) | 2318 | FLNC | Likely benign | 755671727 | RCV002142969; | N | 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:614065, Orphanet:63273 | 7 | 128485122 | 128485122 | | | 128485122 | - | | | NM_001458.5(FLNC):c.3606G>A (p.Val1202=) | 2318 | FLNC | Likely benign | 374499671 | RCV001466115; | N | 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 | 7 | 128485125 | 128485125 | | | 128485125 | - | | | NM_001458.5(FLNC):c.3615C>T (p.His1205=) | 2318 | FLNC | Likely benign | 1554399300 | RCV000526255; | N | 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 | 7 | 128485134 | 128485134 | | | 7:g.128485134C>T | ClinGen:CA457578689 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3618C>T (p.Asn1206=) | 2318 | FLNC | Likely benign | 1039623010 | RCV001504584; | N | 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 | 7 | 128485137 | 128485137 | | | 7:g.128485137C>T | - | | | NM_001458.5(FLNC):c.3618C>A (p.Asn1206Lys) | 2318 | FLNC | Uncertain significance | 1039623010 | RCV001983158; | N | 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 | 7 | 128485137 | 128485137 | | | 128485137 | - | | | NM_001458.5(FLNC):c.3621C>T (p.Asn1207=) | 2318 | FLNC | Benign | 117864464 | RCV000421795|RCV000544773|RCV001698337|RCV002451049; | N | MedGen: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:CN230736 | 7 | 128485140 | 128485140 | | | 7:g.128485140C>T | ClinGen:CA4475086 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3621C>G (p.Asn1207Lys) | 2318 | FLNC | Uncertain significance | 117864464 | RCV001296302; | N | 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 | 7 | 128485140 | 128485140 | | | 128485140 | - | | | NM_001458.5(FLNC):c.3622G>A (p.Ala1208Thr) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 528279616 | RCV000532655|RCV002456216; | N | 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 | 7 | 128485141 | 128485141 | | | NC_000007.13:g.128485141G>A | ClinGen:CA4475087 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3623C>T (p.Ala1208Val) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 202184162 | RCV000545271|RCV001198638|RCV001569461|RCV002460091; | N | 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:MONDO:0014883,MedGen:C4310749,OMIM:617047 | 7 | 128485142 | 128485142 | | | 7:g.128485142C>T | ClinGen:CA4475088 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3624G>A (p.Ala1208=) | 2318 | FLNC | Benign | 35281128 | RCV000117070|RCV000552809|RCV000711681|RCV002453431; | N | MedGen: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:CN230736 | 7 | 128485143 | 128485143 | | | 7:g.128485143G>A | ClinGen:CA152847 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3629G>A (p.Gly1210Asp) | 2318 | FLNC | Uncertain significance | -1 | RCV003117290; | N | 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 | 7 | 128485148 | 128485148 | | | NC_000007.13:g.128485148G>A | - | | | NM_001458.5(FLNC):c.3630C>A (p.Gly1210=) | 2318 | FLNC | Likely benign | 771020495 | RCV000649224; | N | 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 | 7 | 128485149 | 128485149 | | | 7:g.128485149C>A | ClinGen:CA457578728 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3639C>T (p.His1213=) | 2318 | FLNC | Likely benign | 2128936499 | RCV002077000; | N | MONDO:MONDO: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 | 7 | 128485158 | 128485158 | | | 128485158 | - | | | NM_001458.5(FLNC):c.3643A>C (p.Thr1215Pro) | 2318 | FLNC | Uncertain significance | 2128936501 | RCV001920458; | N | 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 | 7 | 128485162 | 128485162 | | | 128485162 | - | | | NM_001458.5(FLNC):c.3645C>A (p.Thr1215=) | 2318 | FLNC | Likely benign | -1 | RCV002452448|RCV003094276; | N | MedGen: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:CN239310 | 7 | 128485164 | 128485164 | | | | - | | | NM_001458.5(FLNC):c.3649A>T (p.Ser1217Cys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 759597112 | RCV000557529|RCV003144353; | N | 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:CN517202 | 7 | 128485168 | 128485168 | | | 7:g.128485168A>T | ClinGen:CA4475092 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3654T>G (p.Pro1218=) | 2318 | FLNC | Likely benign | 1357609481 | RCV001483331|RCV002456847; | N | 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:CN230736 | 7 | 128485173 | 128485173 | | | 128485173 | - | | | NM_001458.5(FLNC):c.3656C>T (p.Ala1219Val) | 2318 | FLNC | Uncertain significance | 775551445 | RCV001978519; | N | 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 | 7 | 128485175 | 128485175 | | | 128485175 | - | | | NM_001458.5(FLNC):c.3663T>C (p.Pro1221=) | 2318 | FLNC | Likely benign | 369734958 | RCV001499465; | N | 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 | 7 | 128485182 | 128485182 | | | 128485182 | - | | | NM_001458.5(FLNC):c.3670_3671dup (p.Ile1226fs) | 2318 | FLNC | Pathogenic | 1808505973 | RCV001234418; | N | 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 | 7 | 128485188 | 128485189 | | | 7:g.128485188_128485189insTA | - | | | NM_001458.5(FLNC):c.3676A>G (p.Ile1226Val) | 2318 | FLNC | Uncertain significance | 1808506817 | RCV002040695; | N | 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 | 7 | 128485195 | 128485195 | | | 128485195 | - | | | NM_001458.5(FLNC):c.3679dup (p.Thr1227fs) | 2318 | FLNC | Pathogenic | -1 | RCV002899239; | N | 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 | 7 | 128485197 | 128485198 | | | NC_000007.13:g.128485198dup | - | | | NM_001458.5(FLNC):c.3680C>T (p.Thr1227Ile) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 373573447 | RCV000649179|RCV001570028|RCV002343339; | N | 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:CN517202|MedGen:CN230736 | 7 | 128485199 | 128485199 | | | 7:g.128485199C>T | ClinGen:CA4475098 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3687G>A (p.Lys1229=) | 2318 | FLNC | Likely benign | 1585160379 | RCV001444976; | N | 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 | 7 | 128485206 | 128485206 | | | 7:g.128485206G>A | - | | | NM_001458.5(FLNC):c.3689A>G (p.Tyr1230Cys) | 2318 | FLNC | Uncertain significance | 863225116 | RCV000201481|RCV001853229; | N | Human 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,Med | 7 | 128485208 | 128485208 | | | 7:g.128485208A>G | ClinGen:CA339606 | C0878544 Cardiomyopathy; | | NM_001458.5(FLNC):c.3693_3695dup (p.Gly1232dup) | 2318 | FLNC | Uncertain significance | 1808507351 | RCV001241982|RCV003145466; | N | 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:CN517202 | 7 | 128485209 | 128485210 | | | 7:g.128485209_128485210insGGC | - | | | NM_001458.5(FLNC):c.3692G>A (p.Gly1231Asp) | 2318 | FLNC | Uncertain significance | 1808507457 | RCV001237287; | N | 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 | 7 | 128485211 | 128485211 | | | 7:g.128485211G>A | - | | | NM_001458.5(FLNC):c.3693C>T (p.Gly1231=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 765922145 | RCV000533727|RCV001703736|RCV002348186; | N | 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:C3661900|MedGen:CN230736 | 7 | 128485212 | 128485212 | | | 7:g.128485212C>T | ClinGen:CA4475099 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3694G>A (p.Gly1232Arg) | 2318 | FLNC | Uncertain significance | 754533053 | RCV000819239|RCV002223137; | N | 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:0014883,MedGen:C4310749,OMIM:617047 | 7 | 128485213 | 128485213 | | | 7:g.128485213G>A | - | | | NM_001458.5(FLNC):c.3695_3698del (p.Gly1232fs) | 2318 | FLNC | Pathogenic | 2128936511 | RCV001942059|RCV003289306; | N | 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 | 7 | 128485214 | 128485217 | | | 128485213 | - | | | NM_001458.5(FLNC):c.3696G>A (p.Gly1232=) | 2318 | FLNC | Likely benign | 1057066602 | RCV001433378|RCV002350853; | N | 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 | 7 | 128485215 | 128485215 | | | 128485215 | - | | | NM_001458.5(FLNC):c.3699del (p.Val1235fs) | 2318 | FLNC | Pathogenic | 1808508148 | RCV001035700; | N | 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 | 7 | 128485218 | 128485218 | | | 7:g.128485218_128485218del | - | | | NM_001458.5(FLNC):c.3702del (p.Val1235fs) | 2318 | FLNC | Pathogenic | 2128936516 | RCV001380511; | N | 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 | 7 | 128485219 | 128485219 | | | 128485218 | - | | | NM_001458.5(FLNC):c.3702C>T (p.Pro1234=) | 2318 | FLNC | Likely benign | 778503145 | RCV001424375|RCV002350828; | N | 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:CN230736 | 7 | 128485221 | 128485221 | | | 128485221 | - | | | NM_001458.5(FLNC):c.3703G>A (p.Val1235Met) | 2318 | FLNC | Uncertain significance | 1208885010 | RCV000649113|RCV003162967; | N | 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:CN230736 | 7 | 128485222 | 128485222 | | | NC_000007.13:g.128485222G>A | ClinGen:CA369197763 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3706C>T (p.Pro1236Ser) | 2318 | FLNC | Uncertain significance | 747678267 | RCV001224210; | N | 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 | 7 | 128485225 | 128485225 | | | 7:g.128485225C>T | - | | | NM_001458.5(FLNC):c.3711del (p.Lys1237fs) | 2318 | FLNC | Pathogenic | 2128936518 | RCV001949283; | N | 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 | 7 | 128485228 | 128485228 | | | 128485227 | - | | | NM_001458.5(FLNC):c.3711A>C (p.Lys1237Asn) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 758220780 | RCV000805240|RCV001567298|RCV002345806; | N | 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:CN517202|MedGen:CN230736 | 7 | 128485230 | 128485230 | | | 7:g.128485230A>C | - | | | NM_001458.5(FLNC):c.3713T>C (p.Phe1238Ser) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 777798089 | RCV001309759|RCV001548025|RCV002350563; | N | 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:C3661900|MedGen:CN230736 | 7 | 128485232 | 128485232 | | | 128485232 | - | | | NM_001458.5(FLNC):c.3713T>G (p.Phe1238Cys) | 2318 | FLNC | Uncertain significance | 777798089 | RCV001346896; | N | 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 | 7 | 128485232 | 128485232 | | | 128485232 | - | | | NM_001458.5(FLNC):c.3717C>T (p.Pro1239=) | 2318 | FLNC | Likely benign | -1 | RCV002349048|RCV003094324; | N | MedGen: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:CN239310 | 7 | 128485236 | 128485236 | | | | - | | | NM_001458.5(FLNC):c.3721C>T (p.Arg1241Cys) | 2318 | FLNC | Benign/Likely benign | 146953558 | RCV000243106|RCV000546730|RCV001572642|RCV002347955; | N | MedGen: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:CN230736 | 7 | 128485240 | 128485240 | | | 7:g.128485240C>T | ClinGen:CA4475106 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3722G>A (p.Arg1241His) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 370520806 | RCV001241271|RCV002348821|RCV002480805; | N | 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:CN230736|MONDO:MONDO:0013550,MedGen:C327 | 7 | 128485241 | 128485241 | | | 7:g.128485241G>A | - | | | NM_001458.5(FLNC):c.3723T>C (p.Arg1241=) | 2318 | FLNC | Likely benign | -1 | RCV002933105; | N | 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 | 7 | 128485242 | 128485242 | | | | - | | | NM_001458.5(FLNC):c.3730G>A (p.Val1244Met) | 2318 | FLNC | Uncertain significance | 746023653 | RCV001891933; | N | 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 | 7 | 128485249 | 128485249 | | | 128485249 | - | | | NM_001458.5(FLNC):c.3730G>T (p.Val1244Leu) | 2318 | FLNC | Uncertain significance | -1 | RCV002615002; | N | 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 | 7 | 128485249 | 128485249 | | | NC_000007.13:g.128485249G>T | - | | | NM_001458.5(FLNC):c.3733_3737dup (p.Ala1247fs) | 2318 | FLNC | Pathogenic | -1 | RCV002814617; | N | 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 | 7 | 128485251 | 128485252 | | | NC_000007.13:g.128485252_128485256dup | - | | | NM_001458.5(FLNC):c.3740C>T (p.Ala1247Val) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 775496136 | RCV000954800|RCV003145240|RCV002346163; | N | 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:CN517202|MedGen:CN230736 | 7 | 128485259 | 128485259 | | | 7:g.128485259C>T | - | | | NM_001458.5(FLNC):c.3741G>C (p.Ala1247=) | 2318 | FLNC | Likely benign | 763047367 | RCV001488028; | N | 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 | 7 | 128485260 | 128485260 | | | 128485260 | - | | | NM_001458.5(FLNC):c.3741G>A (p.Ala1247=) | 2318 | FLNC | Likely benign | -1 | RCV003009143; | N | 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 | 7 | 128485260 | 128485260 | | | | - | | | NM_001458.5(FLNC):c.3744C>T (p.Val1248=) | 2318 | FLNC | Likely benign | 374922440 | RCV000558971; | N | 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 | 7 | 128485263 | 128485263 | | | 7:g.128485263C>T | ClinGen:CA166179034 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3745G>A (p.Asp1249Asn) | 2318 | FLNC | Uncertain significance | 774968828 | RCV000649135|RCV002343337|RCV003144440; | N | 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:CN230736|MedGen:CN517202 | 7 | 128485264 | 128485264 | | | 7:g.128485264G>A | ClinGen:CA4475114 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3753T>C (p.Ser1251=) | 2318 | FLNC | Likely benign | 1228635169 | RCV001470708; | N | 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 | 7 | 128485272 | 128485272 | | | 7:g.128485272T>C | - | | | NM_001458.5(FLNC):c.3756C>T (p.Gly1252=) | 2318 | FLNC | Likely benign | 113589230 | RCV000874662|RCV002346022; | N | 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:CN230736 | 7 | 128485275 | 128485275 | | | 7:g.128485275C>T | - | | | NM_001458.5(FLNC):c.3757G>A (p.Val1253Ile) | 2318 | FLNC | Benign/Likely benign | 117366477 | RCV000117071|RCV000535173|RCV001682809|RCV002345417; | N | MedGen: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:CN230736 | 7 | 128485276 | 128485276 | | | NC_000007.13:g.128485276G>A | ClinGen:CA152850 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3765C>A (p.Val1255=) | 2318 | FLNC | Benign | 556428588 | RCV000551475|RCV001703202|RCV002350338|RCV001692180; | N | 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:CN169374|MedGen:CN230736|MedGen:C3661900 | 7 | 128485284 | 128485284 | | | 7:g.128485284C>A | ClinGen:CA4475117 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3765C>G (p.Val1255=) | 2318 | FLNC | Likely benign | 556428588 | RCV002215533; | N | 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:614065, Orphanet:63273 | 7 | 128485284 | 128485284 | | | 128485284 | - | | | NM_001458.5(FLNC):c.3772C>T (p.Pro1258Ser) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 374764212 | RCV000527622|RCV001575518|RCV002350339; | N | 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:C3661900|MedGen:CN230736 | 7 | 128485291 | 128485291 | | | 7:g.128485291C>T | ClinGen:CA4475120 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3773C>G (p.Pro1258Arg) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1425684282 | RCV001901491|RCV002344003; | N | 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:614065, Orphanet:63273|MedGen:CN230736 | 7 | 128485292 | 128485292 | | | 128485292 | - | | | NM_001458.5(FLNC):c.3781G>C (p.Glu1261Gln) | 2318 | FLNC | Uncertain significance | 747033771 | RCV000809624; | N | 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 | 7 | 128485300 | 128485300 | | | 7:g.128485300G>C | - | | | NM_001458.5(FLNC):c.3781G>A (p.Glu1261Lys) | 2318 | FLNC | Uncertain significance | 747033771 | RCV001235979; | N | 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 | 7 | 128485300 | 128485300 | | | 7:g.128485300G>A | - | | | NM_001458.5(FLNC):c.3783G>A (p.Glu1261=) | 2318 | FLNC | Likely benign | 1585160512 | RCV000981484; | N | 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 | 7 | 128485302 | 128485302 | | | 7:g.128485302G>A | - | | | NM_001458.5(FLNC):c.3785C>T (p.Pro1262Leu) | 2318 | FLNC | Uncertain significance | 757144162 | RCV001914517; | N | 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:614065, Orphanet:63273 | 7 | 128485304 | 128485304 | | | 128485304 | - | | | NM_001458.5(FLNC):c.3789C>T (p.His1263=) | 2318 | FLNC | Likely benign | 780906350 | RCV000884051|RCV001403259|RCV002348250; | N | 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:CN230736 | 7 | 128485308 | 128485308 | | | 7:g.128485308C>T | ClinGen:CA4475124 | CN169374 not specified; | | NM_001458.5(FLNC):c.3790G>A (p.Gly1264Ser) | 2318 | FLNC | Uncertain significance | 201335143 | RCV000649127; | N | 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 | 7 | 128485309 | 128485309 | | | 7:g.128485309G>A | ClinGen:CA4475125 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3790G>T (p.Gly1264Cys) | 2318 | FLNC | Uncertain significance | 201335143 | RCV001773056|RCV001868632; | N | 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:171445 | 7 | 128485309 | 128485309 | | | 128485309 | - | | | NM_001458.5(FLNC):c.3790+5G>A | 2318 | FLNC | Conflicting interpretations of pathogenicity | 199917473 | RCV000649187|RCV002259360|RCV002360626; | N | 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:C3661900|MedGen:CN230736 | 7 | 128485314 | 128485314 | | | 7:g.128485314G>A | ClinGen:CA4475126 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3790+5G>C | 2318 | FLNC | Uncertain significance | 199917473 | RCV001908929; | N | 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 | 7 | 128485314 | 128485314 | | | 128485314 | - | | | NM_001458.5(FLNC):c.3790+7G>A | 2318 | FLNC | Likely benign | 534439574 | RCV000649205; | N | 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 | 7 | 128485316 | 128485316 | | | NC_000007.13:g.128485316G>A | ClinGen:CA4475127 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3790+15G>C | 2318 | FLNC | Likely benign | -1 | RCV002578353; | N | 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 | 7 | 128485324 | 128485324 | | | NC_000007.13:g.128485324G>C | - | | | NM_001458.5(FLNC):c.3790+20C>A | 2318 | FLNC | Likely benign | 1234654866 | RCV002206140; | N | 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 | 7 | 128485329 | 128485329 | | | 128485329 | - | | | NM_001458.5(FLNC):c.3791-19C>T | 2318 | FLNC | Likely benign | 763590558 | RCV002165687; | N | 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 | 7 | 128486025 | 128486025 | | | 128486025 | - | | | NM_001458.5(FLNC):c.3791-18G>A | 2318 | FLNC | Benign | 201845310 | RCV002127892; | N | 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 | 7 | 128486026 | 128486026 | | | 128486026 | - | | | NM_001458.5(FLNC):c.3791-8G>A | 2318 | FLNC | Likely benign | 374187337 | RCV000900119; | N | 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 | 7 | 128486036 | 128486036 | | | 7:g.128486036G>A | - | | | NM_001458.5(FLNC):c.3791-1G>C | 2318 | FLNC | Pathogenic/Likely pathogenic | 781135153 | RCV000483809|RCV000799570|RCV001332010|RCV002356781; | N | MedGen: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:C431 | 7 | 128486043 | 128486043 | | | 7:g.128486043G>C | ClinGen:CA4475142 | CN517202 not provided; | | NM_001458.5(FLNC):c.3793G>A (p.Val1265Ile) | 2318 | FLNC | Uncertain significance | 368102638 | RCV000998915|RCV001241471; | N | MedGen: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 | 7 | 128486046 | 128486046 | | | 7:g.128486046G>A | - | | | NM_001458.5(FLNC):c.3798G>T (p.Leu1266=) | 2318 | FLNC | Likely benign | 755949518 | RCV000875929|RCV001593104|RCV003169196; | N | 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:CN517202|MedGen:CN230736 | 7 | 128486051 | 128486051 | | | 7:g.128486051G>T | - | | | NM_001458.5(FLNC):c.3798G>A (p.Leu1266=) | 2318 | FLNC | Likely benign | 755949518 | RCV001401428|RCV002368260; | N | 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 | 7 | 128486051 | 128486051 | | | 128486051 | - | | | NM_001458.5(FLNC):c.3799C>T (p.Arg1267Trp) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 371483562 | RCV000699358|RCV000788675|RCV002360788|RCV002493217; | N | 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:CN517202|MedGen:CN230736|MONDO:MONDO:001 | 7 | 128486052 | 128486052 | | | 7:g.128486052C>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3800G>A (p.Arg1267Gln) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 768767784 | RCV000649139|RCV002358859|RCV003144441; | N | 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|MedGen:CN517202 | 7 | 128486053 | 128486053 | | | 7:g.128486053G>A | ClinGen:CA4475147 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3803A>G (p.Glu1268Gly) | 2318 | FLNC | Uncertain significance | 1585161164 | RCV000806363; | N | 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 | 7 | 128486056 | 128486056 | | | 7:g.128486056A>G | - | | | NM_001458.5(FLNC):c.3805G>T (p.Val1269Leu) | 2318 | FLNC | Uncertain significance | 1808547668 | RCV001209761; | N | 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 | 7 | 128486058 | 128486058 | | | 7:g.128486058G>T | - | | | NM_001458.5(FLNC):c.3807G>A (p.Val1269=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1585161170 | RCV000975496|RCV001486250; | N | MedGen: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:CN239310 | 7 | 128486060 | 128486060 | | | 7:g.128486060G>A | - | | | NM_001458.5(FLNC):c.3812C>G (p.Thr1271Ser) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 778997084 | RCV000873869|RCV001619854|RCV002354682; | N | 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:CN517202|MedGen:CN230736 | 7 | 128486065 | 128486065 | | | 7:g.128486065C>G | - | | | NM_001458.5(FLNC):c.3815A>G (p.Glu1272Gly) | 2318 | FLNC | Uncertain significance | -1 | RCV003097456; | N | 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 | 7 | 128486068 | 128486068 | | | NC_000007.13:g.128486068A>G | - | | | NM_001458.5(FLNC):c.3822T>C (p.Thr1274=) | 2318 | FLNC | Likely benign | 1172843229 | RCV001393388; | N | 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 | 7 | 128486075 | 128486075 | | | 128486075 | - | | | NM_001458.5(FLNC):c.3829G>A (p.Ala1277Thr) | 2318 | FLNC | Uncertain significance | 1808548777 | RCV001214465; | N | 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 | 7 | 128486082 | 128486082 | | | 7:g.128486082G>A | - | | | NM_001458.5(FLNC):c.3829G>T (p.Ala1277Ser) | 2318 | FLNC | Uncertain significance | 1808548777 | RCV002045449; | N | 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 | 7 | 128486082 | 128486082 | | | 128486082 | - | | | NM_001458.5(FLNC):c.3832A>G (p.Arg1278Gly) | 2318 | FLNC | Uncertain significance | 772667448 | RCV001245908; | N | 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 | 7 | 128486085 | 128486085 | | | 7:g.128486085A>G | - | | | NM_001458.5(FLNC):c.3833G>A (p.Arg1278Lys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 540117605 | RCV000649088|RCV001771892; | N | 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:C3661900 | 7 | 128486086 | 128486086 | | | 7:g.128486086G>A | ClinGen:CA4475151 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3833G>C (p.Arg1278Thr) | 2318 | FLNC | Uncertain significance | 540117605 | RCV001989323; | N | 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 | 7 | 128486086 | 128486086 | | | 128486086 | - | | | NM_001458.5(FLNC):c.3835T>C (p.Ser1279Pro) | 2318 | FLNC | Uncertain significance | 1562997744 | RCV000696977; | N | 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 | 7 | 128486088 | 128486088 | | | 7:g.128486088T>C | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3836C>T (p.Ser1279Phe) | 2318 | FLNC | Uncertain significance | -1 | RCV003014567; | N | 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 | 7 | 128486089 | 128486089 | | | NC_000007.13:g.128486089C>T | - | | | NM_001458.5(FLNC):c.3837C>T (p.Ser1279=) | 2318 | FLNC | Likely benign | 761100799 | RCV000842384|RCV001441253|RCV002352493; | N | 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:63273|MedGen:CN230736 | 7 | 128486090 | 128486090 | | | 7:g.128486090C>T | - | | | NM_001458.5(FLNC):c.3838C>T (p.Leu1280=) | 2318 | FLNC | Benign | 34180031 | RCV000117072|RCV000535374|RCV000711682|RCV002354297; | N | MedGen: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:CN230736 | 7 | 128486091 | 128486091 | | | 7:g.128486091C>T | ClinGen:CA152853 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3842C>T (p.Thr1281Ile) | 2318 | FLNC | Uncertain significance | 776862347 | RCV001575596|RCV001866063; | N | 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:171445 | 7 | 128486095 | 128486095 | | | 128486095 | - | | | NM_001458.5(FLNC):c.3845C>T (p.Ala1282Val) | 2318 | FLNC | Uncertain significance | 1256859746 | RCV001935156|RCV002293539; | N | 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:614065, Orphanet:63273|MedGen:C3661900 | 7 | 128486098 | 128486098 | | | 128486098 | - | | | NM_001458.5(FLNC):c.3847A>G (p.Thr1283Ala) | 2318 | FLNC | Likely benign | 367860958 | RCV000547994|RCV001704280|RCV002356573; | N | 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:CN230736 | 7 | 128486100 | 128486100 | | | 7:g.128486100A>G | ClinGen:CA4475154 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3851G>A (p.Gly1284Asp) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1041643602 | RCV001362107|RCV002357230; | N | 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:CN230736 | 7 | 128486104 | 128486104 | | | 128486104 | - | | | NM_001458.5(FLNC):c.3852C>T (p.Gly1284=) | 2318 | FLNC | Benign | 111337293 | RCV000444123|RCV000528975|RCV002365506; | N | 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|MedGen:CN230736 | 7 | 128486105 | 128486105 | | | 7:g.128486105C>T | ClinGen:CA4475155 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3853G>A (p.Gly1285Ser) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 200928780 | RCV000649071|RCV001771891|RCV002286771|RCV002360619; | N | 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:C3661900|MONDO:MONDO:0014883,MedGen:C431 | 7 | 128486106 | 128486106 | | | 7:g.128486106G>A | ClinGen:CA4475156 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3854del (p.Gly1285fs) | 2318 | FLNC | Pathogenic | 1808550611 | RCV001046273; | N | 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 | 7 | 128486106 | 128486106 | | | 7:g.128486106_128486106del | - | | | NM_001458.5(FLNC):c.3859_3866del (p.His1287fs) | 2318 | FLNC | Pathogenic | -1 | RCV003027408; | N | 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 | 7 | 128486110 | 128486117 | | | NC_000007.13:g.128486112_128486119del | - | | | NM_001458.5(FLNC):c.3861C>T (p.His1287=) | 2318 | FLNC | Benign/Likely benign | 375986462 | RCV000541593|RCV001696953|RCV002358568|RCV003330788; | N | 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:CN230736|MedGen:CN169374 | 7 | 128486114 | 128486114 | | | 7:g.128486114C>T | ClinGen:CA4475158 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3862G>A (p.Val1288Met) | 2318 | FLNC | Uncertain significance | 750415476 | RCV000824612; | N | 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 | 7 | 128486115 | 128486115 | | | 7:g.128486115G>A | - | | | NM_001458.5(FLNC):c.3862G>C (p.Val1288Leu) | 2318 | FLNC | Uncertain significance | 750415476 | RCV001303795|RCV002357105; | N | 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 | 7 | 128486115 | 128486115 | | | 128486115 | - | | | NM_001458.5(FLNC):c.3864G>A (p.Val1288=) | 2318 | FLNC | Likely benign | 2128936748 | RCV001459822; | N | 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:614065, Orphanet:63273 | 7 | 128486117 | 128486117 | | | 128486117 | - | | | NM_001458.5(FLNC):c.3866C>T (p.Thr1289Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 755896234 | RCV001344755|RCV002357188; | N | 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:CN230736 | 7 | 128486119 | 128486119 | | | 128486119 | - | | | NM_001458.5(FLNC):c.3866C>A (p.Thr1289Lys) | 2318 | FLNC | Likely benign | -1 | RCV002904173; | N | 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 | 7 | 128486119 | 128486119 | | | NC_000007.13:g.128486119C>A | - | | | NM_001458.5(FLNC):c.3867G>A (p.Thr1289=) | 2318 | FLNC | Likely benign | 886038485 | RCV000250992|RCV001423882; | N | MedGen: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 | 7 | 128486120 | 128486120 | | | 7:g.128486120G>A | ClinGen:CA10586960 | CN169374 not specified; | | NM_001458.5(FLNC):c.3871C>G (p.Arg1291Gly) | 2318 | FLNC | Likely benign | 753591663 | RCV000649111; | N | 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 | 7 | 128486124 | 128486124 | | | NC_000007.13:g.128486124C>G | ClinGen:CA4475163 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3871C>T (p.Arg1291Cys) | 2318 | FLNC | Uncertain significance | 753591663 | RCV000817302; | N | 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 | 7 | 128486124 | 128486124 | | | 7:g.128486124C>T | - | | | NM_001458.5(FLNC):c.3872G>A (p.Arg1291His) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 370042010 | RCV000689109|RCV001556998|RCV002352129; | N | 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:C3661900|MedGen:CN230736 | 7 | 128486125 | 128486125 | | | 7:g.128486125G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3876G>A (p.Val1292=) | 2318 | FLNC | Likely benign | 1192892491 | RCV002129922; | N | 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 | 7 | 128486129 | 128486129 | | | 128486129 | - | | | NM_001458.5(FLNC):c.3879C>T (p.Leu1293=) | 2318 | FLNC | Likely benign | -1 | RCV003100175; | N | 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 | 7 | 128486132 | 128486132 | | | | - | | | NM_001458.5(FLNC):c.3881A>G (p.Asn1294Ser) | 2318 | FLNC | Uncertain significance | 944103680 | RCV000694689; | N | 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 | 7 | 128486134 | 128486134 | | | 7:g.128486134A>G | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3881A>T (p.Asn1294Ile) | 2318 | FLNC | Uncertain significance | 944103680 | RCV001215303|RCV003163650; | N | 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:CN230736 | 7 | 128486134 | 128486134 | | | 7:g.128486134A>T | - | | | NM_001458.5(FLNC):c.3882C>G (p.Asn1294Lys) | 2318 | FLNC | Uncertain significance | 1808552408 | RCV002013879; | N | 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 | 7 | 128486135 | 128486135 | | | 128486135 | - | | | NM_001458.5(FLNC):c.3885C>T (p.Pro1295=) | 2318 | FLNC | Likely benign | 778413094 | RCV001396627|RCV002367914; | N | 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 | 7 | 128486138 | 128486138 | | | 7:g.128486138C>T | ClinGen:CA4475167 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3885C>A (p.Pro1295=) | 2318 | FLNC | Likely benign | -1 | RCV002932437; | N | 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 | 7 | 128486138 | 128486138 | | | | - | | | NM_001458.5(FLNC):c.3887C>T (p.Ser1296Leu) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 747587140 | RCV000649089|RCV001575499|RCV002358856|RCV002493037; | N | 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:CN517202|MedGen:CN230736|MONDO:MONDO:001 | 7 | 128486140 | 128486140 | | | 7:g.128486140C>T | ClinGen:CA4475168 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3887C>G (p.Ser1296Trp) | 2318 | FLNC | Uncertain significance | 747587140 | RCV001966600; | N | 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 | 7 | 128486140 | 128486140 | | | 128486140 | - | | | NM_001458.5(FLNC):c.3888G>A (p.Ser1296=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | -1 | RCV002899883|RCV003274064; | N | 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:CN230736 | 7 | 128486141 | 128486141 | | | | - | | | NM_001458.5(FLNC):c.3890G>A (p.Gly1297Glu) | 2318 | FLNC | Uncertain significance | 771575526 | RCV002032139|RCV003146501|RCV002493989; | N | MONDO:MONDO: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:C327 | 7 | 128486143 | 128486143 | | | 128486143 | - | | | NM_001458.5(FLNC):c.3893C>T (p.Ala1298Val) | 2318 | FLNC | Uncertain significance | 1064796931 | RCV000482004|RCV001064736|RCV002356793|RCV002489180; | N | MedGen: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:001 | 7 | 128486146 | 128486146 | | | 7:g.128486146C>T | ClinGen:CA16618353 | CN169374 not specified; | | NM_001458.5(FLNC):c.3905_3919dup (p.Thr1302_Asp1306dup) | 2318 | FLNC | Uncertain significance | 756167665 | RCV001299955; | N | 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 | 7 | 128486149 | 128486150 | | | 128486149 | - | | | NM_001458.5(FLNC):c.3903C>T (p.Asp1301=) | 2318 | FLNC | Likely benign | 777004360 | RCV001404911; | N | 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 | 7 | 128486156 | 128486156 | | | 128486156 | - | | | NM_001458.5(FLNC):c.3905C>T (p.Thr1302Ile) | 2318 | FLNC | Uncertain significance | 746249435 | RCV000811120; | N | 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 | 7 | 128486158 | 128486158 | | | 7:g.128486158C>T | - | | | NM_001458.5(FLNC):c.3908A>T (p.Tyr1303Phe) | 2318 | FLNC | Uncertain significance | 1808553804 | RCV001215578; | N | 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 | 7 | 128486161 | 128486161 | | | 7:g.128486161A>T | - | | | NM_001458.5(FLNC):c.3909T>C (p.Tyr1303=) | 2318 | FLNC | Likely benign | 1329973329 | RCV001429810|RCV002377688; | N | 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 | 7 | 128486162 | 128486162 | | | 128486162 | - | | | NM_001458.5(FLNC):c.3919A>G (p.Asn1307Asp) | 2318 | FLNC | Uncertain significance | 1808554442 | RCV002043805; | N | 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 | 7 | 128486172 | 128486172 | | | 128486172 | - | | | NM_001458.5(FLNC):c.3921T>C (p.Asn1307=) | 2318 | FLNC | Likely benign | 369198655 | RCV002103504; | N | 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 | 7 | 128486174 | 128486174 | | | 128486174 | - | | | NM_001458.5(FLNC):c.3927C>T (p.Asp1309=) | 2318 | FLNC | Likely benign | 761297336 | RCV001495242|RCV002377857; | N | 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:CN230736 | 7 | 128486180 | 128486180 | | | 128486180 | - | | | NM_001458.5(FLNC):c.3928G>A (p.Gly1310Ser) | 2318 | FLNC | Uncertain significance | 767079356 | RCV001773231|RCV001885068|RCV003163886; | N | 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:171445|MedGen:CN230736 | 7 | 128486181 | 128486181 | | | 128486181 | - | | | NM_001458.5(FLNC):c.3934_3937dup (p.Arg1313fs) | 2318 | FLNC | Pathogenic/Likely pathogenic | 1554399513 | RCV000554121|RCV001837994|RCV002358632; | N | 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:CN517202|MedGen:CN230736 | 7 | 128486183 | 128486184 | | | 7:g.128486183_128486184insACCT | ClinGen:CA658657720 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3933_3937del (p.Tyr1312fs) | 2318 | FLNC | Pathogenic | 1808555459 | RCV001054046; | N | 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 | 7 | 128486185 | 128486189 | | | 7:g.128486185_128486189del | - | | | NM_001458.5(FLNC):c.3937C>G (p.Arg1313Gly) | 2318 | FLNC | Uncertain significance | 766330686 | RCV000703716; | N | 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 | 7 | 128486190 | 128486190 | | | NC_000007.13:g.128486190C>G | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3937C>T (p.Arg1313Ter) | 2318 | FLNC | Pathogenic/Likely pathogenic | 766330686 | RCV000702917|RCV001546472|RCV002352198; | N | 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:CN517202|MedGen:CN230736 | 7 | 128486190 | 128486190 | | | 7:g.128486190C>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3937C>A (p.Arg1313=) | 2318 | FLNC | Likely benign | 766330686 | RCV001470688; | N | 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 | 7 | 128486190 | 128486190 | | | 7:g.128486190C>A | - | | | NM_001458.5(FLNC):c.3938G>A (p.Arg1313Gln) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 199804244 | RCV000541793|RCV000605853|RCV002358570|RCV003224329; | N | 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:CN169374|MedGen:CN230736|MONDO:MONDO:001 | 7 | 128486191 | 128486191 | | | 7:g.128486191G>A | ClinGen:CA4475180 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3938G>C (p.Arg1313Pro) | 2318 | FLNC | Uncertain significance | 199804244 | RCV002006788; | N | 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 | 7 | 128486191 | 128486191 | | | 128486191 | - | | | NM_001458.5(FLNC):c.3947A>G (p.Tyr1316Cys) | 2318 | FLNC | Uncertain significance | 2128936781 | RCV001962180; | N | 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 | 7 | 128486200 | 128486200 | | | 128486200 | - | | | NM_001458.5(FLNC):c.3949_3950del (p.Thr1317fs) | 2318 | FLNC | Pathogenic | -1 | RCV002848209; | N | 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 | 7 | 128486200 | 128486201 | | | NC_000007.13:g.128486200AC[1] | - | | | NM_001458.5(FLNC):c.3949A>G (p.Thr1317Ala) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 377555574 | RCV000729536|RCV001044583|RCV002369990; | N | MedGen: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:CN230736 | 7 | 128486202 | 128486202 | | | NC_000007.13:g.128486202A>G | - | | | NM_001458.5(FLNC):c.3951C>T (p.Thr1317=) | 2318 | FLNC | Likely benign | 765476086 | RCV000432078|RCV000649215|RCV001079007|RCV002374676; | N | MedGen: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:CN230736 | 7 | 128486204 | 128486204 | | | 7:g.128486204C>T | ClinGen:CA4475183 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3952G>T (p.Ala1318Ser) | 2318 | FLNC | Uncertain significance | 777939926 | RCV001858889|RCV002354914; | N | 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 | 7 | 128486205 | 128486205 | | | 7:g.128486205G>T | - | | | NM_001458.5(FLNC):c.3952G>A (p.Ala1318Thr) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 777939926 | RCV001864159|RCV002370380; | N | 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 | 7 | 128486205 | 128486205 | | | 128486205 | - | | | NM_001458.5(FLNC):c.3953C>T (p.Ala1318Val) | 2318 | FLNC | Uncertain significance | -1 | RCV002375437|RCV003094453; | N | MedGen: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:CN239310 | 7 | 128486206 | 128486206 | | | 128486206 | - | | | NM_001458.5(FLNC):c.3956A>G (p.Tyr1319Cys) | 2318 | FLNC | Uncertain significance | 1808556919 | RCV001347740; | N | 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 | 7 | 128486209 | 128486209 | | | 128486209 | - | | | NM_001458.5(FLNC):c.3957C>T (p.Tyr1319=) | 2318 | FLNC | Likely benign | 781589024 | RCV001404637|RCV002357340; | N | 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 | 7 | 128486210 | 128486210 | | | 128486210 | - | | | NM_001458.5(FLNC):c.3958G>A (p.Glu1320Lys) | 2318 | FLNC | Likely benign | 746217788 | RCV001235457; | N | 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 | 7 | 128486211 | 128486211 | | | 7:g.128486211G>A | - | | | NM_001458.5(FLNC):c.3960G>A (p.Glu1320=) | 2318 | FLNC | Likely benign | 200717144 | RCV000525510|RCV001572548|RCV002358569; | N | 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:CN230736 | 7 | 128486213 | 128486213 | | | 7:g.128486213G>A | ClinGen:CA4475190 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3964+1G>A | 2318 | FLNC | Likely pathogenic | 1808557594 | RCV001042206; | N | 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 | 7 | 128486218 | 128486218 | | | 7:g.128486218G>A | - | | | NM_001458.5(FLNC):c.3964+1G>T | 2318 | FLNC | Likely pathogenic | 1808557594 | RCV001971741; | N | 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 | 7 | 128486218 | 128486218 | | | 128486218 | - | | | NM_001458.5(FLNC):c.3964+5G>A | 2318 | FLNC | Uncertain significance | 2128936793 | RCV001787414|RCV001885210; | N | EFO: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,Orpha | 7 | 128486222 | 128486222 | | | 128486222 | - | | | NM_001458.5(FLNC):c.3964+9C>T | 2318 | FLNC | Benign/Likely benign | 200448727 | RCV000554412|RCV001575246|RCV002483473; | N | 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:C3661900|MONDO:MONDO:0013550,MedGen:C327 | 7 | 128486226 | 128486226 | | | 7:g.128486226C>T | ClinGen:CA4475191 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3964+10G>A | 2318 | FLNC | Likely benign | 747730336 | RCV000649220; | N | 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 | 7 | 128486227 | 128486227 | | | 7:g.128486227G>A | ClinGen:CA4475192 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3965-20C>T | 2318 | FLNC | Likely benign | 781712238 | RCV002138603; | N | 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 | 7 | 128486335 | 128486335 | | | 128486335 | - | | | NM_001458.5(FLNC):c.3965-20C>A | 2318 | FLNC | Likely benign | -1 | RCV003092140; | N | 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 | 7 | 128486335 | 128486335 | | | NC_000007.13:g.128486335C>A | - | | | NM_001458.5(FLNC):c.3965-13G>C | 2318 | FLNC | Likely benign | 1451257102 | RCV002111000; | N | 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 | 7 | 128486342 | 128486342 | | | 128486342 | - | | | NM_001458.5(FLNC):c.3965-12G>T | 2318 | FLNC | Likely benign | 368592349 | RCV002101970; | N | 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 | 7 | 128486343 | 128486343 | | | 128486343 | - | | | NM_001458.5(FLNC):c.3966C>T (p.Gly1322=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 200237564 | RCV000176382|RCV000724251|RCV001079783|RCV002372088; | N | MedGen: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:CN230736 | 7 | 128486356 | 128486356 | | | 7:g.128486356C>T | ClinGen:CA242312 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3966C>A (p.Gly1322=) | 2318 | FLNC | Likely benign | 200237564 | RCV001473420; | N | 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 | 7 | 128486356 | 128486356 | | | 128486356 | - | | | NM_001458.5(FLNC):c.3966C>G (p.Gly1322=) | 2318 | FLNC | Likely benign | -1 | RCV002736134; | N | 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 | 7 | 128486356 | 128486356 | | | | - | | | NM_001458.5(FLNC):c.3967G>A (p.Val1323Met) | 2318 | FLNC | Uncertain significance | 771676134 | RCV000649150; | N | 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 | 7 | 128486357 | 128486357 | | | 7:g.128486357G>A | ClinGen:CA4475213 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3967G>T (p.Val1323Leu) | 2318 | FLNC | Uncertain significance | -1 | RCV002619473; | N | 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 | 7 | 128486357 | 128486357 | | | NC_000007.13:g.128486357G>T | - | | | NM_001458.5(FLNC):c.3968T>G (p.Val1323Gly) | 2318 | FLNC | Uncertain significance | 2128936843 | RCV001900671; | N | MONDO:MONDO: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 | 7 | 128486358 | 128486358 | | | 128486358 | - | | | NM_001458.5(FLNC):c.3972T>C (p.His1324=) | 2318 | FLNC | Likely benign | 201922688 | RCV000538310|RCV002324027|RCV001591258; | N | 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:C3661900 | 7 | 128486362 | 128486362 | | | NC_000007.13:g.128486362T>C | ClinGen:CA4475215 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.3973C>T (p.Leu1325=) | 2318 | FLNC | Benign | 34373805 | RCV000117073|RCV000711683|RCV001510685|RCV002354298; | N | MedGen: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:CN230736 | 7 | 128486363 | 128486363 | | | 7:g.128486363C>T | ClinGen:CA152856 | CN169374 not specified; | | NM_001458.5(FLNC):c.3982G>A (p.Val1328Ile) | 2318 | FLNC | Uncertain significance | 1585161584 | RCV000807510; | N | 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 | 7 | 128486372 | 128486372 | | | 7:g.128486372G>A | - | | | NM_001458.5(FLNC):c.3987G>A (p.Leu1329=) | 2318 | FLNC | Likely benign | 374299121 | RCV000609402|RCV000913266|RCV002377301; | N | MedGen: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:CN230736 | 7 | 128486377 | 128486377 | | | 7:g.128486377G>A | ClinGen:CA4475216 | CN169374 not specified; | | NM_001458.5(FLNC):c.3999C>T (p.Val1333=) | 2318 | FLNC | Likely benign | 1341936427 | RCV001498997; | N | 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 | 7 | 128486389 | 128486389 | | | 128486389 | - | | | NM_001458.5(FLNC):c.4000G>A (p.Ala1334Thr) | 2318 | FLNC | Uncertain significance | 556477946 | RCV000531868|RCV002483474; | N | 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:C3279722,OMIM:614065 | 7 | 128486390 | 128486390 | | | 7:g.128486390G>A | ClinGen:CA4475217 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4003G>A (p.Val1335Met) | 2318 | FLNC | Uncertain significance | 368220468 | RCV001041766|RCV002355003; | N | 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|MedGen:CN230736 | 7 | 128486393 | 128486393 | | | 7:g.128486393G>A | - | | | NM_001458.5(FLNC):c.4009A>C (p.Lys1337Gln) | 2318 | FLNC | Uncertain significance | 1554399580 | RCV000594936|RCV001854084; | N | MedGen: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 | 7 | 128486399 | 128486399 | | | 7:g.128486399A>C | ClinGen:CA369198929 | CN169374 not specified; | | NM_001458.5(FLNC):c.4016C>T (p.Pro1339Leu) | 2318 | FLNC | Uncertain significance | 1808566825 | RCV001914046; | N | MONDO:MONDO: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 | 7 | 128486406 | 128486406 | | | 128486406 | - | | | NM_001458.5(FLNC):c.4017C>A (p.Pro1339=) | 2318 | FLNC | Likely benign | 2128936853 | RCV002000500; | N | 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 | 7 | 128486407 | 128486407 | | | 128486407 | - | | | NM_001458.5(FLNC):c.4018T>A (p.Phe1340Ile) | 2318 | FLNC | Uncertain significance | 775383465 | RCV000544192|RCV003148783; | N | 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:CN517202 | 7 | 128486408 | 128486408 | | | 7:g.128486408T>A | ClinGen:CA4475219 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4018T>G (p.Phe1340Val) | 2318 | FLNC | Uncertain significance | 775383465 | RCV000805604; | N | 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 | 7 | 128486408 | 128486408 | | | 7:g.128486408T>G | - | | | NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter) | 2318 | FLNC | Pathogenic/Likely pathogenic | 1562998062 | RCV000760746|RCV001067745|RCV001809795|RCV002370018|RCV003166019; | N | MedGen: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:C431 | 7 | 128486411 | 128486411 | | | NC_000007.13:g.128486411C>T | - | | | NM_001458.5(FLNC):c.4022G>A (p.Arg1341Gln) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 149641783 | RCV000724874|RCV001084885|RCV001706129|RCV002354450|RCV003150047; | N | 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:CN169374|MedGen:CN230736 | 7 | 128486412 | 128486412 | | | 7:g.128486412G>A | ClinGen:CA242315 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4023A>T (p.Arg1341=) | 2318 | FLNC | Likely benign | 751884031 | RCV000878071|RCV001593119|RCV002354707; | N | 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:CN517202|MedGen:CN230736 | 7 | 128486413 | 128486413 | | | 7:g.128486413A>T | - | | | NM_001458.5(FLNC):c.4030G>A (p.Val1344Met) | 2318 | FLNC | Uncertain significance | 374127804 | RCV001210731|RCV002356900; | N | 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:CN230736 | 7 | 128486420 | 128486420 | | | 7:g.128486420G>A | - | | | NM_001458.5(FLNC):c.4035C>T (p.Thr1345=) | 2318 | FLNC | Likely benign | 538733304 | RCV001460061|RCV003389743; | N | 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:C3661900 | 7 | 128486425 | 128486425 | | | 7:g.128486425C>T | - | | | NM_001458.5(FLNC):c.4044T>C (p.Cys1348=) | 2318 | FLNC | Likely benign | 1443334555 | RCV001488082; | N | 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 | 7 | 128486434 | 128486434 | | | 7:g.128486434T>C | - | | | NM_001458.5(FLNC):c.4052C>T (p.Thr1351Ile) | 2318 | FLNC | Uncertain significance | 1585161671 | RCV000812998; | N | 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 | 7 | 128486442 | 128486442 | | | 7:g.128486442C>T | - | | | NM_001458.5(FLNC):c.4053C>T (p.Thr1351=) | 2318 | FLNC | Likely benign | 2128936870 | RCV001443868; | N | MONDO:MONDO: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 | 7 | 128486443 | 128486443 | | | 128486443 | - | | | NM_001458.5(FLNC):c.4054C>T (p.Arg1352Cys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 367931139 | RCV000556748|RCV001700151|RCV002324028; | N | 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:CN230736 | 7 | 128486444 | 128486444 | | | NC_000007.13:g.128486444C>T | ClinGen:CA4475229 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4054C>A (p.Arg1352Ser) | 2318 | FLNC | Conflicting interpretations of pathogenicity | -1 | RCV002321318|RCV003102511|RCV003443033; | N | MedGen: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:C3661900 | 7 | 128486444 | 128486444 | | | 128486444 | - | | | NM_001458.5(FLNC):c.4055G>A (p.Arg1352His) | 2318 | FLNC | Uncertain significance | 746731567 | RCV000799244|RCV001592983|RCV002477826; | N | 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:CN517202|MONDO:MONDO:0012289,MedGen:C183 | 7 | 128486445 | 128486445 | | | 7:g.128486445G>A | - | | | NM_001458.5(FLNC):c.4055G>T (p.Arg1352Leu) | 2318 | FLNC | Uncertain significance | 746731567 | RCV001300415|RCV002322197; | N | 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:CN230736 | 7 | 128486445 | 128486445 | | | 128486445 | - | | | NM_001458.5(FLNC):c.4055_4056delinsAT (p.Arg1352His) | 2318 | FLNC | Uncertain significance | -1 | RCV002598882; | N | 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 | 7 | 128486445 | 128486446 | | | NC_000007.13:g.128486445_128486446delinsAT | - | | | NM_001458.5(FLNC):c.4056C>T (p.Arg1352=) | 2318 | FLNC | Benign | 75770585 | RCV000117074|RCV000711684|RCV001517751|RCV002321594; | N | MedGen: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:CN230736 | 7 | 128486446 | 128486446 | | | 7:g.128486446C>T | ClinGen:CA152859 | CN169374 not specified; | | NM_001458.5(FLNC):c.4057G>A (p.Val1353Ile) | 2318 | FLNC | Uncertain significance | 1321855034 | RCV001068044|RCV003160559; | N | 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 | 7 | 128486447 | 128486447 | | | 7:g.128486447G>A | - | | | NM_001458.5(FLNC):c.4059_4060del (p.Arg1354fs) | 2318 | FLNC | Pathogenic | -1 | RCV002824251|RCV003308296; | N | 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:CN230736 | 7 | 128486449 | 128486450 | | | NC_000007.13:g.128486449_128486450del | - | | | NM_001458.5(FLNC):c.4060C>T (p.Arg1354Ter) | 2318 | FLNC | Pathogenic | 138193236 | RCV001241233|RCV002321562|RCV003229806; | N | 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:CN517202 | 7 | 128486450 | 128486450 | | | 7:g.128486450C>T | - | | | NM_001458.5(FLNC):c.4060C>G (p.Arg1354Gly) | 2318 | FLNC | Uncertain significance | 138193236 | RCV000691278|RCV003144512; | N | 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:CN517202 | 7 | 128486450 | 128486450 | | | 7:g.128486450C>G | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4061G>A (p.Arg1354Gln) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 572132215 | RCV001045725|RCV001823753|RCV002320260; | N | 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:CN230736 | 7 | 128486451 | 128486451 | | | 7:g.128486451G>A | - | | | NM_001458.5(FLNC):c.4066T>G (p.Phe1356Val) | 2318 | FLNC | Uncertain significance | 1276975364 | RCV001299954; | N | 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 | 7 | 128486456 | 128486456 | | | 128486456 | - | | | NM_001458.5(FLNC):c.4068C>T (p.Phe1356=) | 2318 | FLNC | Likely benign | 745413025 | RCV000649241|RCV003352969; | N | 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 | 7 | 128486458 | 128486458 | | | 7:g.128486458C>T | ClinGen:CA4475232 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4069G>A (p.Gly1357Arg) | 2318 | FLNC | Uncertain significance | 1218299104 | RCV000810393|RCV001556052|RCV002325579; | N | 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:CN517202|MedGen:CN230736 | 7 | 128486459 | 128486459 | | | 7:g.128486459G>A | - | | | NM_001458.5(FLNC):c.4069G>T (p.Gly1357Trp) | 2318 | FLNC | Uncertain significance | -1 | RCV003088251; | N | 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 | 7 | 128486459 | 128486459 | | | NC_000007.13:g.128486459G>T | - | | | NM_001458.5(FLNC):c.4073C>G (p.Pro1358Arg) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 769586047 | RCV000649137|RCV002325299|RCV002485458; | N | 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:CN230736|MONDO:MONDO:0014883,MedGen:C431 | 7 | 128486463 | 128486463 | | | 7:g.128486463C>G | ClinGen:CA4475233 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4092G>C (p.Leu1364Phe) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 768635501 | RCV000544708|RCV001570876|RCV002324030; | N | 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:CN517202|MedGen:CN230736 | 7 | 128486482 | 128486482 | | | 7:g.128486482G>C | ClinGen:CA4475236 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4092G>T (p.Leu1364Phe) | 2318 | FLNC | Uncertain significance | 768635501 | RCV002011544; | N | 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 | 7 | 128486482 | 128486482 | | | 128486482 | - | | | NM_001458.5(FLNC):c.4097A>G (p.Asn1366Ser) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 185746835 | RCV000556971|RCV002324031|RCV001731770|RCV002470906; | N | 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:C3661900|EFO:EFO_0000407 | 7 | 128486487 | 128486487 | | | 7:g.128486487A>G | ClinGen:CA4475237 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4101G>A (p.Lys1367=) | 2318 | FLNC | Likely benign | -1 | RCV002999603; | N | 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 | 7 | 128486491 | 128486491 | | | | - | | | NM_001458.5(FLNC):c.4103C>T (p.Ala1368Val) | 2318 | FLNC | Uncertain significance | 896305338 | RCV001066408; | N | 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 | 7 | 128486493 | 128486493 | | | 7:g.128486493C>T | - | | | NM_001458.5(FLNC):c.4105A>G (p.Asn1369Asp) | 2318 | FLNC | Uncertain significance | -1 | RCV002814280; | N | 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 | 7 | 128486495 | 128486495 | | | NC_000007.13:g.128486495A>G | - | | | NM_001458.5(FLNC):c.4106A>G (p.Asn1369Ser) | 2318 | FLNC | Uncertain significance | 1554399615 | RCV000537720; | N | 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 | 7 | 128486496 | 128486496 | | | 7:g.128486496A>G | ClinGen:CA369199125 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4108C>T (p.Arg1370Ter) | 2318 | FLNC | Pathogenic | 1342121466 | RCV001044407|RCV002272394|RCV002320257; | N | 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|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047 | 7 | 128486498 | 128486498 | | | 7:g.128486498C>T | - | | | NM_001458.5(FLNC):c.4108C>G (p.Arg1370Gly) | 2318 | FLNC | Uncertain significance | 1342121466 | RCV001216293; | N | 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 | 7 | 128486498 | 128486498 | | | 7:g.128486498C>G | - | | | NM_001458.5(FLNC):c.4109G>A (p.Arg1370Gln) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 761881020 | RCV000788573|RCV001065013|RCV002325491; | N | MedGen: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:CN230736 | 7 | 128486499 | 128486499 | | | 7:g.128486499G>A | - | | | NM_001458.5(FLNC):c.4111T>C (p.Phe1371Leu) | 2318 | FLNC | Uncertain significance | -1 | RCV002303233; | N | MONDO:MONDO: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 | 7 | 128486501 | 128486501 | | | 128486501 | - | | | NM_001458.5(FLNC):c.4117G>A (p.Val1373Met) | 2318 | FLNC | Uncertain significance | 1159994552 | RCV001208993; | N | 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 | 7 | 128486507 | 128486507 | | | 7:g.128486507G>A | - | | | NM_001458.5(FLNC):c.4120G>A (p.Glu1374Lys) | 2318 | FLNC | Uncertain significance | -1 | RCV002294849; | N | 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 | 7 | 128486510 | 128486510 | | | 128486510 | - | | | NM_001458.5(FLNC):c.4125C>T (p.Thr1375=) | 2318 | FLNC | Benign/Likely benign | 191931963 | RCV000914321|RCV001683692|RCV002332876; | N | MONDO:MONDO: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:CN230736 | 7 | 128486515 | 128486515 | | | 7:g.128486515C>T | - | | | NM_001458.5(FLNC):c.4127+1G>T | 2318 | FLNC | Pathogenic | 1346981294 | RCV000797177; | N | 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 | 7 | 128486518 | 128486518 | | | 7:g.128486518G>T | - | | | NM_001458.5(FLNC):c.4127+5C>T | 2318 | FLNC | Uncertain significance | 2128936919 | RCV002048252; | N | 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:614065, Orphanet:63273 | 7 | 128486522 | 128486522 | | | 128486522 | - | | | NM_001458.5(FLNC):c.4127+7T>C | 2318 | FLNC | Likely benign | 1436165683 | RCV000960333; | N | 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 | 7 | 128486524 | 128486524 | | | 7:g.128486524T>C | - | | | NM_001458.5(FLNC):c.4127+8C>T | 2318 | FLNC | Likely benign | 2128936922 | RCV002152511; | N | 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 | 7 | 128486525 | 128486525 | | | 128486525 | - | | | NM_001458.5(FLNC):c.4127+9C>T | 2318 | FLNC | Conflicting interpretations of pathogenicity | 368729011 | RCV000615274|RCV000649190|RCV003150302; | N | MedGen: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:000 | 7 | 128486526 | 128486526 | | | 7:g.128486526C>T | ClinGen:CA4475242 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4127+11C>G | 2318 | FLNC | Likely benign | 372563727 | RCV002128636; | N | MONDO:MONDO: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 | 7 | 128486528 | 128486528 | | | 128486528 | - | | | NM_001458.5(FLNC):c.4127+11C>A | 2318 | FLNC | Likely benign | -1 | RCV002848470; | N | 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 | 7 | 128486528 | 128486528 | | | NC_000007.13:g.128486528C>A | - | | | NM_001458.5(FLNC):c.4127+13T>G | 2318 | FLNC | Likely benign | -1 | RCV003017951; | N | 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 | 7 | 128486530 | 128486530 | | | NC_000007.13:g.128486530T>G | - | | | NM_001458.5(FLNC):c.4128-15G>A | 2318 | FLNC | Likely benign | -1 | RCV002852465; | N | 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 | 7 | 128486784 | 128486784 | | | NC_000007.13:g.128486784G>A | - | | | NM_001458.5(FLNC):c.4128-13T>A | 2318 | FLNC | Likely benign | 2128937010 | RCV002204184; | N | 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 | 7 | 128486786 | 128486786 | | | 128486786 | - | | | NM_001458.5(FLNC):c.4128-11T>G | 2318 | FLNC | Uncertain significance | -1 | RCV002637365; | N | 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 | 7 | 128486788 | 128486788 | | | NC_000007.13:g.128486788T>G | - | | | NM_001458.5(FLNC):c.4128-9A>C | 2318 | FLNC | Likely benign | 2128937012 | RCV002204905; | N | 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 | 7 | 128486790 | 128486790 | | | 128486790 | - | | | NM_001458.5(FLNC):c.4128-2_4128-1del | 2318 | FLNC | Likely pathogenic | 1808585056 | RCV001054013; | N | 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 | 7 | 128486797 | 128486798 | | | 7:g.128486797_128486798del | - | | | NM_001458.5(FLNC):c.4128-1G>C | 2318 | FLNC | Likely pathogenic | -1 | RCV002918913; | N | 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 | 7 | 128486798 | 128486798 | | | NC_000007.13:g.128486798G>C | - | | | NM_001458.5(FLNC):c.4129G>A (p.Gly1377Arg) | 2318 | FLNC | Uncertain significance | 768725407 | RCV001767013|RCV002538796; | N | MedGen: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 | 7 | 128486800 | 128486800 | | | 128486800 | - | | | NM_001458.5(FLNC):c.4130G>C (p.Gly1377Ala) | 2318 | FLNC | Uncertain significance | -1 | RCV003055699; | N | 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 | 7 | 128486801 | 128486801 | | | NC_000007.13:g.128486801G>C | - | | | NM_001458.5(FLNC):c.4132G>A (p.Ala1378Thr) | 2318 | FLNC | Uncertain significance | -1 | RCV003008020; | N | 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 | 7 | 128486803 | 128486803 | | | NC_000007.13:g.128486803G>A | - | | | NM_001458.5(FLNC):c.4133C>T (p.Ala1378Val) | 2318 | FLNC | Uncertain significance | 748008658 | RCV000403247|RCV001041037|RCV002328785|RCV003401261; | N | 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:63273|MedGen:CN230736| | 7 | 128486804 | 128486804 | | | 7:g.128486804C>T | ClinGen:CA4475256 | CN169374 not specified; | | NM_001458.5(FLNC):c.4134G>A (p.Ala1378=) | 2318 | FLNC | Likely benign | 200942470 | RCV000998919|RCV001823751|RCV002068739|RCV002327227; | N | MedGen: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:CN230736 | 7 | 128486805 | 128486805 | | | 7:g.128486805G>A | - | | | NM_001458.5(FLNC):c.4140C>T (p.Thr1380=) | 2318 | FLNC | Benign/Likely benign | 183668401 | RCV000711685|RCV002330939|RCV001078932|RCV001823736; | N | MedGen: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:CN169374 | 7 | 128486811 | 128486811 | | | 7:g.128486811C>T | ClinGen:CA4475259 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4141G>A (p.Gly1381Arg) | 2318 | FLNC | Uncertain significance | 766513255 | RCV000693205|RCV002332439; | N | 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:CN230736 | 7 | 128486812 | 128486812 | | | NC_000007.13:g.128486812G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4141G>T (p.Gly1381Trp) | 2318 | FLNC | Uncertain significance | 766513255 | RCV001235088; | N | 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 | 7 | 128486812 | 128486812 | | | 7:g.128486812G>T | - | | | NM_001458.5(FLNC):c.4142G>A (p.Gly1381Glu) | 2318 | FLNC | Uncertain significance | 2128937018 | RCV001957405; | N | 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 | 7 | 128486813 | 128486813 | | | 128486813 | - | | | NM_001458.5(FLNC):c.4143G>C (p.Gly1381=) | 2318 | FLNC | Likely benign | -1 | RCV003014933; | N | 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 | 7 | 128486814 | 128486814 | | | | - | | | NM_001458.5(FLNC):c.4145G>A (p.Gly1382Asp) | 2318 | FLNC | Uncertain significance | 1808586180 | RCV001215665; | N | 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 | 7 | 128486816 | 128486816 | | | 7:g.128486816G>A | - | | | NM_001458.5(FLNC):c.4152C>A (p.Gly1384=) | 2318 | FLNC | Likely benign | 2128937024 | RCV001491132; | N | 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:614065, Orphanet:63273 | 7 | 128486823 | 128486823 | | | 128486823 | - | | | NM_001458.5(FLNC):c.4153C>T (p.Leu1385=) | 2318 | FLNC | Likely benign | 202125701 | RCV000422452|RCV000649258|RCV001702479|RCV002328965; | N | MedGen: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:CN230736 | 7 | 128486824 | 128486824 | | | 7:g.128486824C>T | ClinGen:CA4475264 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4159A>G (p.Ile1387Val) | 2318 | FLNC | Uncertain significance | 1032003580 | RCV000558629|RCV002330940; | N | 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:CN230736 | 7 | 128486830 | 128486830 | | | 7:g.128486830A>G | ClinGen:CA166181881 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4159A>T (p.Ile1387Phe) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1032003580 | RCV001314725|RCV002329265; | N | 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 | 7 | 128486830 | 128486830 | | | 128486830 | - | | | NM_001458.5(FLNC):c.4161C>T (p.Ile1387=) | 2318 | FLNC | Benign/Likely benign | 200288149 | RCV000251468|RCV000534531|RCV002328742; | N | MedGen: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:CN230736 | 7 | 128486832 | 128486832 | | | 7:g.128486832C>T | ClinGen:CA4475265 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4162G>A (p.Glu1388Lys) | 2318 | FLNC | Uncertain significance | -1 | RCV003087026; | N | 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 | 7 | 128486833 | 128486833 | | | NC_000007.13:g.128486833G>A | - | | | NM_001458.5(FLNC):c.4170C>T (p.Pro1390=) | 2318 | FLNC | Likely benign | 750156834 | RCV002035257; | N | 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 | 7 | 128486841 | 128486841 | | | 128486841 | - | | | NM_001458.5(FLNC):c.4172C>T (p.Ser1391Leu) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 755832014 | RCV001222620|RCV002562558|RCV003145417; | N | 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|MeSH:D030342,MedGen:C0950123|MedGen:CN517202 | 7 | 128486843 | 128486843 | | | 7:g.128486843C>T | - | | | NM_001458.5(FLNC):c.4173G>A (p.Ser1391=) | 2318 | FLNC | Likely benign | 201481324 | RCV001587410|RCV002329491|RCV001439441; | N | MedGen: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:75249 | 7 | 128486844 | 128486844 | | | 128486844 | - | | | NM_001458.5(FLNC):c.4179C>G (p.Ala1393=) | 2318 | FLNC | Likely benign | 1304554131 | RCV001460209; | N | 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:614065, Orphanet:63273 | 7 | 128486850 | 128486850 | | | 128486850 | - | | | NM_001458.5(FLNC):c.4180A>G (p.Lys1394Glu) | 2318 | FLNC | Uncertain significance | 1430761286 | RCV002006730|RCV002331613|RCV003146478; | N | 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:CN230736|MedGen:C3661900 | 7 | 128486851 | 128486851 | | | 128486851 | - | | | NM_001458.5(FLNC):c.4181A>C (p.Lys1394Thr) | 2318 | FLNC | Uncertain significance | -1 | RCV003072735; | N | 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 | 7 | 128486852 | 128486852 | | | NC_000007.13:g.128486852A>C | - | | | NM_001458.5(FLNC):c.4184T>A (p.Met1395Lys) | 2318 | FLNC | Uncertain significance | 1372801269 | RCV000814911; | N | 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 | 7 | 128486855 | 128486855 | | | 7:g.128486855T>A | - | | | NM_001458.5(FLNC):c.4185G>A (p.Met1395Ile) | 2318 | FLNC | Uncertain significance | 2128937035 | RCV001990676; | N | 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 | 7 | 128486856 | 128486856 | | | 128486856 | - | | | NM_001458.5(FLNC):c.4188C>A (p.Ser1396=) | 2318 | FLNC | Likely benign | -1 | RCV003003156; | N | 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 | 7 | 128486859 | 128486859 | | | | - | | | NM_001458.5(FLNC):c.4192A>T (p.Lys1398Ter) | 2318 | FLNC | Pathogenic | -1 | RCV002671801; | N | 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 | 7 | 128486863 | 128486863 | | | NC_000007.13:g.128486863A>T | - | | | NM_001458.5(FLNC):c.4197CAA[1] (p.Asn1400del) | 2318 | FLNC | Uncertain significance | 1167620763 | RCV002016231; | N | 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 | 7 | 128486867 | 128486869 | | | 128486866 | - | | | NM_001458.5(FLNC):c.4202A>C (p.Lys1401Thr) | 2318 | FLNC | Uncertain significance | 1808588600 | RCV001318919; | N | 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 | 7 | 128486873 | 128486873 | | | 128486873 | - | | | NM_001458.5(FLNC):c.4202A>G (p.Lys1401Arg) | 2318 | FLNC | Uncertain significance | 1808588600 | RCV002029109; | N | 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 | 7 | 128486873 | 128486873 | | | 128486873 | - | | | NM_001458.5(FLNC):c.4218C>T (p.Thr1406=) | 2318 | FLNC | Likely benign | 748827721 | RCV000649207|RCV002331239; | N | 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:CN230736 | 7 | 128486889 | 128486889 | | | 7:g.128486889C>T | ClinGen:CA4475270 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4219G>A (p.Val1407Met) | 2318 | FLNC | Uncertain significance | 375366821 | RCV000692406|RCV001756186|RCV002332434; | N | 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:CN517202|MedGen:CN230736 | 7 | 128486890 | 128486890 | | | NC_000007.13:g.128486890G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4222G>A (p.Glu1408Lys) | 2318 | FLNC | Uncertain significance | 965589915 | RCV001061544|RCV001288180|RCV002327335; | N | 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:CN517202|MedGen:CN230736 | 7 | 128486893 | 128486893 | | | 7:g.128486893G>A | - | | | NM_001458.5(FLNC):c.4224G>T (p.Glu1408Asp) | 2318 | FLNC | Uncertain significance | -1 | RCV002303346; | N | MONDO:MONDO: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 | 7 | 128486895 | 128486895 | | | 128486895 | - | | | NM_001458.5(FLNC):c.4229T>A (p.Ile1410Asn) | 2318 | FLNC | Uncertain significance | 778951900 | RCV000698670|RCV002332471|RCV003225114; | N | 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:CN230736|MedGen:CN517202 | 7 | 128486900 | 128486900 | | | NC_000007.13:g.128486900T>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4230C>T (p.Ile1410=) | 2318 | FLNC | Likely benign | -1 | RCV002653480|RCV003289585; | N | 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|MedGen:CN230736 | 7 | 128486901 | 128486901 | | | | - | | | NM_001458.5(FLNC):c.4233C>T (p.Pro1411=) | 2318 | FLNC | Likely benign | 2128937047 | RCV002160768; | N | 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 | 7 | 128486904 | 128486904 | | | 128486904 | - | | | NM_001458.5(FLNC):c.4254C>T (p.Asp1418=) | 2318 | FLNC | Likely benign | 773306584 | RCV001438584|RCV002329489; | N | 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:CN230736 | 7 | 128486925 | 128486925 | | | 128486925 | - | | | NM_001458.5(FLNC):c.4255G>A (p.Val1419Ile) | 2318 | FLNC | Uncertain significance | 1432229476 | RCV001295860; | N | 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 | 7 | 128486926 | 128486926 | | | 128486926 | - | | | NM_001458.5(FLNC):c.4256T>C (p.Val1419Ala) | 2318 | FLNC | Uncertain significance | 2128937054 | RCV001981042; | N | 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:614065, Orphanet:63273 | 7 | 128486927 | 128486927 | | | 128486927 | - | | | NM_001458.5(FLNC):c.4260C>T (p.Asn1420=) | 2318 | FLNC | Likely benign | -1 | RCV002585491; | N | 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 | 7 | 128486931 | 128486931 | | | | - | | | NM_001458.5(FLNC):c.4269C>T (p.Phe1423=) | 2318 | FLNC | Likely benign | 781089974 | RCV001493452|RCV002332860|RCV003432882; | N | 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:CN230736|MedGen:C3661900 | 7 | 128486940 | 128486940 | | | 7:g.128486940C>T | - | | | NM_001458.5(FLNC):c.4275dup (p.Arg1426fs) | 2318 | FLNC | Pathogenic | 756985550 | RCV001388852; | N | 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 | 7 | 128486940 | 128486941 | | | 128486940 | - | | | NM_001458.5(FLNC):c.4270G>A (p.Gly1424Arg) | 2318 | FLNC | Uncertain significance | 1202331272 | RCV000649126; | N | 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 | 7 | 128486941 | 128486941 | | | 7:g.128486941G>A | ClinGen:CA369200936 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4272G>C (p.Gly1424=) | 2318 | FLNC | Likely benign | -1 | RCV002330045|RCV003094616; | N | MedGen: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:CN239310 | 7 | 128486943 | 128486943 | | | | - | | | NM_001458.5(FLNC):c.4276C>T (p.Arg1426Trp) | 2318 | FLNC | Uncertain significance | -1 | RCV002330067|RCV003102554|RCV003403792; | N | MedGen: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| | 7 | 128486947 | 128486947 | | | 128486947 | - | | | NM_001458.5(FLNC):c.4277G>C (p.Arg1426Pro) | 2318 | FLNC | Uncertain significance | 764452839 | RCV001946484; | N | 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 | 7 | 128486948 | 128486948 | | | 128486948 | - | | | NM_001458.5(FLNC):c.4280C>T (p.Pro1427Leu) | 2318 | FLNC | Uncertain significance | 1192906461 | RCV001204364|RCV003246749; | N | 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|MeSH:D030342,MedGen:C0950123 | 7 | 128486951 | 128486951 | | | 7:g.128486951C>T | - | | | NM_001458.5(FLNC):c.4287A>C (p.Pro1429=) | 2318 | FLNC | Uncertain significance | 1808591761 | RCV001218581; | N | 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 | 7 | 128486958 | 128486958 | | | 7:g.128486958A>C | - | | | NM_001458.5(FLNC):c.4288+1G>A | 2318 | FLNC | Likely pathogenic | 2128937065 | RCV002050926; | N | MONDO:MONDO: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 | 7 | 128486960 | 128486960 | | | 128486960 | - | | | NM_001458.5(FLNC):c.4288+3G>A | 2318 | FLNC | Uncertain significance | 1199950013 | RCV001898472; | N | 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 | 7 | 128486962 | 128486962 | | | 128486962 | - | | | NM_001458.5(FLNC):c.4288+7AG[3] | 2318 | FLNC | Benign | 780733285 | RCV002127257; | N | 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 | 7 | 128486966 | 128486967 | | | 128486965 | - | | | NM_001458.5(FLNC):c.4288+19C>T | 2318 | FLNC | Likely benign | -1 | RCV003115550; | N | 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 | 7 | 128486978 | 128486978 | | | NC_000007.13:g.128486978C>T | - | | | NM_001458.5(FLNC):c.4288+20G>A | 2318 | FLNC | Likely benign | -1 | RCV003090500; | N | 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 | 7 | 128486979 | 128486979 | | | NC_000007.13:g.128486979G>A | - | | | NC_000007.13:g.(?_128487731)_(128488142_?)del | 2318 | FLNC | Pathogenic | -1 | RCV001946604; | N | 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 | 7 | 128487731 | 128488142 | | | -1 | - | | | NM_001458.5(FLNC):c.4289-18A>C | 2318 | FLNC | Likely benign | -1 | RCV002890073; | N | 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 | 7 | 128487733 | 128487733 | | | NC_000007.13:g.128487733A>C | - | | | NM_001458.5(FLNC):c.4289-16G>A | 2318 | FLNC | Likely benign | -1 | RCV003037833; | N | 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 | 7 | 128487735 | 128487735 | | | NC_000007.13:g.128487735G>A | - | | | NM_001458.5(FLNC):c.4289-7_4289-5del | 2318 | FLNC | Likely benign | 1286999803 | RCV000649202; | N | 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 | 7 | 128487741 | 128487743 | | | 7:g.128487741_128487743del | ClinGen:CA578150551 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4289-5C>T | 2318 | FLNC | Conflicting interpretations of pathogenicity | -1 | RCV002330175|RCV003102557; | N | MedGen: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:CN239310 | 7 | 128487746 | 128487746 | | | 128487746 | - | | | NM_001458.5(FLNC):c.4289-4A>C | 2318 | FLNC | Benign | 140031589 | RCV000551693|RCV000407361|RCV002328778; | N | 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:CN230736 | 7 | 128487747 | 128487747 | | | 7:g.128487747A>C | ClinGen:CA4475304 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4293C>T (p.Ser1431=) | 2318 | FLNC | Likely benign | 376429779 | RCV001467998|RCV003160897; | N | 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 | 7 | 128487755 | 128487755 | | | 128487755 | - | | | NM_001458.5(FLNC):c.4293C>A (p.Ser1431Arg) | 2318 | FLNC | Uncertain significance | -1 | RCV002580003; | N | 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 | 7 | 128487755 | 128487755 | | | NC_000007.13:g.128487755C>A | - | | | NM_001458.5(FLNC):c.4295C>T (p.Pro1432Leu) | 2318 | FLNC | Uncertain significance | 1427806742 | RCV001884367; | N | 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 | 7 | 128487757 | 128487757 | | | 128487757 | - | | | NM_001458.5(FLNC):c.4296G>A (p.Pro1432=) | 2318 | FLNC | Likely benign | 370827536 | RCV000416169|RCV001088732|RCV002328904; | N | 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:CN230736 | 7 | 128487758 | 128487758 | | | 7:g.128487758G>A | ClinGen:CA4475306 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4298T>A (p.Phe1433Tyr) | 2318 | FLNC | Uncertain significance | 2128937234 | RCV002029124; | N | 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 | 7 | 128487760 | 128487760 | | | 128487760 | - | | | NM_001458.5(FLNC):c.4299C>T (p.Phe1433=) | 2318 | FLNC | Benign/Likely benign | -1 | RCV002330254|RCV003102563; | N | MedGen: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:CN239310 | 7 | 128487761 | 128487761 | | | | - | | | NM_001458.5(FLNC):c.4300C>T (p.Arg1434Cys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 536331212 | RCV000820348|RCV002251521|RCV002332701; | N | 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:C3661900|MedGen:CN230736 | 7 | 128487762 | 128487762 | | | 7:g.128487762C>T | - | | | NM_001458.5(FLNC):c.4301G>T (p.Arg1434Leu) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 143623535 | RCV000498731|RCV001086180|RCV002329185; | N | 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:CN230736 | 7 | 128487763 | 128487763 | | | 7:g.128487763G>T | ClinGen:CA4475310 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4301G>A (p.Arg1434His) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 143623535 | RCV000539559|RCV000734411|RCV002329238|RCV002497017; | N | MONDO:MONDO: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:001 | 7 | 128487763 | 128487763 | | | 7:g.128487763G>A | ClinGen:CA4475309 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4302C>T (p.Arg1434=) | 2318 | FLNC | Benign | 114697352 | RCV000422534|RCV000711686|RCV001080257|RCV002328991; | N | MedGen: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:CN230736 | 7 | 128487764 | 128487764 | | | 7:g.128487764C>T | ClinGen:CA4475311 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4303G>A (p.Val1435Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 370643162 | RCV000540920|RCV002330941; | N | 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:CN230736 | 7 | 128487765 | 128487765 | | | NC_000007.13:g.128487765G>A | ClinGen:CA4475312 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4309G>T (p.Val1437Leu) | 2318 | FLNC | Uncertain significance | 1445187487 | RCV001976770; | N | 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 | 7 | 128487771 | 128487771 | | | 128487771 | - | | | NM_001458.5(FLNC):c.4310T>C (p.Val1437Ala) | 2318 | FLNC | Uncertain significance | 754170282 | RCV000649157|RCV001771895|RCV003362878; | N | 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:CN517202|MedGen:CN230736 | 7 | 128487772 | 128487772 | | | 7:g.128487772T>C | ClinGen:CA166182932 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4315G>A (p.Asp1439Asn) | 2318 | FLNC | Uncertain significance | 1562998835 | RCV000686708; | N | 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 | 7 | 128487777 | 128487777 | | | NC_000007.13:g.128487777G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4321del (p.Val1441fs) | 2318 | FLNC | Pathogenic | -1 | RCV002700133; | N | 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 | 7 | 128487782 | 128487782 | | | NC_000007.13:g.128487783del | - | | | NM_001458.5(FLNC):c.4323G>A (p.Val1441=) | 2318 | FLNC | Benign | -1 | RCV002676377; | N | 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 | 7 | 128487785 | 128487785 | | | | - | | | NM_001458.5(FLNC):c.4324G>A (p.Asp1442Asn) | 2318 | FLNC | Uncertain significance | -1 | RCV002993654; | N | 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 | 7 | 128487786 | 128487786 | | | NC_000007.13:g.128487786G>A | - | | | NM_001458.5(FLNC):c.4326C>A (p.Asp1442Glu) | 2318 | FLNC | Uncertain significance | 1458536220 | RCV001043901; | N | 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 | 7 | 128487788 | 128487788 | | | 7:g.128487788C>A | - | | | NM_001458.5(FLNC):c.4329T>C (p.Pro1443=) | 2318 | FLNC | Likely benign | 1183819162 | RCV001441148; | N | 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 | 7 | 128487791 | 128487791 | | | 128487791 | - | | | NM_001458.5(FLNC):c.4333_4336del (p.Gly1444_Lys1445insTer) | 2318 | FLNC | Pathogenic | 1562998858 | RCV000693137; | N | 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 | 7 | 128487793 | 128487796 | | | NC_000007.13:g.128487795_128487798del | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4331G>C (p.Gly1444Ala) | 2318 | FLNC | Likely benign | -1 | RCV003053179; | N | 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 | 7 | 128487793 | 128487793 | | | NC_000007.13:g.128487793G>C | - | | | NM_001458.5(FLNC):c.4334A>G (p.Lys1445Arg) | 2318 | FLNC | Likely benign | 371591881 | RCV000696646|RCV001555285|RCV002332460; | N | 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:CN230736 | 7 | 128487796 | 128487796 | | | 7:g.128487796A>G | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4342T>C (p.Cys1448Arg) | 2318 | FLNC | Uncertain significance | 976487545 | RCV001338357; | N | 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 | 7 | 128487804 | 128487804 | | | 128487804 | - | | | NM_001458.5(FLNC):c.4350G>A (p.Gly1450=) | 2318 | FLNC | Likely benign | 769921610 | RCV001506670; | N | 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 | 7 | 128487812 | 128487812 | | | 128487812 | - | | | NM_001458.5(FLNC):c.4352C>G (p.Pro1451Arg) | 2318 | FLNC | Uncertain significance | -1 | RCV002680800; | N | 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 | 7 | 128487814 | 128487814 | | | NC_000007.13:g.128487814C>G | - | | | NM_001458.5(FLNC):c.4356G>C (p.Gly1452=) | 2318 | FLNC | Likely benign | 2128937254 | RCV002206480; | N | 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 | 7 | 128487818 | 128487818 | | | 128487818 | - | | | NM_001458.5(FLNC):c.4363_4375dup (p.Ala1459fs) | 2318 | FLNC | Pathogenic | -1 | RCV002842880; | N | 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 | 7 | 128487821 | 128487822 | | | NC_000007.13:g.128487825_128487837dup | - | | | NM_001458.5(FLNC):c.4367G>C (p.Gly1456Ala) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 775049569 | RCV000704195|RCV002332499|RCV002507233|RCV003144564|RCV003420256; | N | 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:CN230736|MONDO:MONDO:0012289,MedGen:C183 | 7 | 128487829 | 128487829 | | | NC_000007.13:g.128487829G>C | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4372A>G (p.Arg1458Gly) | 2318 | FLNC | Uncertain significance | 762257502 | RCV000697125|RCV001756214; | N | 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:CN517202 | 7 | 128487834 | 128487834 | | | 7:g.128487834A>G | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4374G>A (p.Arg1458=) | 2318 | FLNC | Likely benign | 1305563889 | RCV000649251|RCV002331240; | N | 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:CN230736 | 7 | 128487836 | 128487836 | | | 7:g.128487836G>A | ClinGen:CA457848539 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4378C>T (p.Arg1460Trp) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 376265227 | RCV001055020|RCV002327317|RCV003145304; | N | 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|MedGen:CN230736|MedGen:CN517202 | 7 | 128487840 | 128487840 | | | 7:g.128487840C>T | - | | | NM_001458.5(FLNC):c.4378C>G (p.Arg1460Gly) | 2318 | FLNC | Uncertain significance | -1 | RCV002765882; | N | 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 | 7 | 128487840 | 128487840 | | | NC_000007.13:g.128487840C>G | - | | | NM_001458.5(FLNC):c.4379G>A (p.Arg1460Gln) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 773716930 | RCV002039042|RCV002331649; | N | 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 | 7 | 128487841 | 128487841 | | | 128487841 | - | | | NM_001458.5(FLNC):c.4380G>T (p.Arg1460=) | 2318 | FLNC | Likely benign | 1005510680 | RCV001479185|RCV003160939; | N | 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:CN230736 | 7 | 128487842 | 128487842 | | | 128487842 | - | | | NM_001458.5(FLNC):c.4387C>G (p.Gln1463Glu) | 2318 | FLNC | Uncertain significance | 1808623920 | RCV001943981; | N | 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 | 7 | 128487849 | 128487849 | | | 128487849 | - | | | NM_001458.5(FLNC):c.4402G>A (p.Asp1468Asn) | 2318 | FLNC | Uncertain significance | -1 | RCV002570184; | N | 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 | 7 | 128487864 | 128487864 | | | NC_000007.13:g.128487864G>A | - | | | NM_001458.5(FLNC):c.4404T>C (p.Asp1468=) | 2318 | FLNC | Benign | 2249128 | RCV000221141|RCV001520069; | N | MedGen: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 | 7 | 128487866 | 128487866 | | | 7:g.128487866T>C | ClinGen:CA4475325 | CN169374 not specified; | | NM_001458.5(FLNC):c.4404= (p.Asp1468=) | 2318 | FLNC | Benign | 2249128 | RCV000528055; | N | 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 | 7 | 128487866 | 128487866 | | | 7:g.128487866T>. | ClinGen:CA658657721 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4413A>T (p.Gln1471His) | 2318 | FLNC | Uncertain significance | 765435961 | RCV000649185|RCV001823742|RCV002331238|RCV003319390; | N | 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:CN230736|MedGen:CN517202 | 7 | 128487875 | 128487875 | | | NC_000007.13:g.128487875A>T | ClinGen:CA4475326 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4415C>T (p.Ala1472Val) | 2318 | FLNC | Uncertain significance | -1 | RCV002333848|RCV003094688; | N | MedGen: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:CN239310 | 7 | 128487877 | 128487877 | | | 128487877 | - | | | NM_001458.5(FLNC):c.4420C>T (p.Arg1474Trp) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 372454458 | RCV000522249|RCV000705455|RCV002329244; | N | 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:171445|MedGen:CN230736 | 7 | 128487882 | 128487882 | | | 7:g.128487882C>T | ClinGen:CA4475327 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4421G>A (p.Arg1474Gln) | 2318 | FLNC | Uncertain significance | 376380652 | RCV001046304; | N | 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 | 7 | 128487883 | 128487883 | | | 7:g.128487883G>A | - | | | NM_001458.5(FLNC):c.4423G>T (p.Ala1475Ser) | 2318 | FLNC | Uncertain significance | 982026083 | RCV001983428; | N | 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 | 7 | 128487885 | 128487885 | | | 128487885 | - | | | NM_001458.5(FLNC):c.4424C>T (p.Ala1475Val) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 369305865 | RCV000553323|RCV002330942; | N | 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 | 7 | 128487886 | 128487886 | | | NC_000007.13:g.128487886C>T | ClinGen:CA4475329 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4425G>A (p.Ala1475=) | 2318 | FLNC | Benign/Likely benign | 371971762 | RCV000711687|RCV001085701|RCV002332520; | N | MedGen: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:CN230736 | 7 | 128487887 | 128487887 | | | NC_000007.13:g.128487887G>A | - | | | NM_001458.5(FLNC):c.4431G>A (p.Leu1477=) | 2318 | FLNC | Benign | 2291568 | RCV000117075|RCV000711688|RCV001520070|RCV002326813; | N | MedGen: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:CN230736 | 7 | 128487893 | 128487893 | | | 7:g.128487893G>A | ClinGen:CA152862 | CN169374 not specified; | | NM_001458.5(FLNC):c.4432C>T (p.Gln1478Ter) | 2318 | FLNC | Pathogenic | 2128937285 | RCV001380194; | N | 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 | 7 | 128487894 | 128487894 | | | 128487894 | - | | | NM_001458.5(FLNC):c.4435G>C (p.Val1479Leu) | 2318 | FLNC | Uncertain significance | -1 | RCV003002948; | N | 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 | 7 | 128487897 | 128487897 | | | NC_000007.13:g.128487897G>C | - | | | NM_001458.5(FLNC):c.4445T>C (p.Leu1482Pro) | 2318 | FLNC | Uncertain significance | -1 | RCV002820781; | N | 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 | 7 | 128487907 | 128487907 | | | NC_000007.13:g.128487907T>C | - | | | NM_001458.5(FLNC):c.4456+13C>T | 2318 | FLNC | Benign/Likely benign | 200456962 | RCV000437588|RCV002062601; | N | MedGen: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 | 7 | 128487931 | 128487931 | | | 7:g.128487931C>T | ClinGen:CA4475334 | CN169374 not specified; | | NM_001458.5(FLNC):c.4456+14G>A | 2318 | FLNC | Benign/Likely benign | 375227447 | RCV000607186|RCV002063065; | N | MedGen: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 | 7 | 128487932 | 128487932 | | | 7:g.128487932G>A | ClinGen:CA4475335 | CN169374 not specified; | | NM_001458.5(FLNC):c.4456+15G>A | 2318 | FLNC | Likely benign | -1 | RCV002806971; | N | 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 | 7 | 128487933 | 128487933 | | | NC_000007.13:g.128487933G>A | - | | | NM_001458.5(FLNC):c.4456+16G>A | 2318 | FLNC | Benign | 543476754 | RCV001573825|RCV001701201|RCV002072245; | N | MedGen: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:CN239310 | 7 | 128487934 | 128487934 | | | 128487934 | - | | | NM_001458.5(FLNC):c.4456+17G>T | 2318 | FLNC | Likely benign | -1 | RCV002745848; | N | 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 | 7 | 128487935 | 128487935 | | | NC_000007.13:g.128487935G>T | - | | | NM_001458.5(FLNC):c.4457-19C>G | 2318 | FLNC | Benign/Likely benign | 369731117 | RCV000613181|RCV002063066; | N | 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 | 7 | 128487980 | 128487980 | | | 7:g.128487980C>G | ClinGen:CA4475346 | CN169374 not specified; | | NM_001458.5(FLNC):c.4457-19C>A | 2318 | FLNC | Likely benign | 369731117 | RCV002087399; | N | 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 | 7 | 128487980 | 128487980 | | | 128487980 | - | | | NM_001458.5(FLNC):c.4457-8T>C | 2318 | FLNC | Likely benign | 2128937313 | RCV002114817; | N | 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 | 7 | 128487991 | 128487991 | | | 128487991 | - | | | NM_001458.5(FLNC):c.4457-4C>T | 2318 | FLNC | Likely benign | 2128937315 | RCV002088646; | N | 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 | 7 | 128487995 | 128487995 | | | 128487995 | - | | | NM_001458.5(FLNC):c.4457-1G>A | 2318 | FLNC | Likely pathogenic | 1404524040 | RCV001971152; | N | 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 | 7 | 128487998 | 128487998 | | | 128487998 | - | | | NM_001458.5(FLNC):c.4457G>T (p.Gly1486Val) | 2318 | FLNC | Uncertain significance | 767473791 | RCV002026172; | N | 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 | 7 | 128487999 | 128487999 | | | 128487999 | - | | | NM_001458.5(FLNC):c.4459G>A (p.Val1487Met) | 2318 | FLNC | Likely benign | 750186463 | RCV000945474|RCV002332943; | N | 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 | 7 | 128488001 | 128488001 | | | 7:g.128488001G>A | - | | | NM_001458.5(FLNC):c.4464C>T (p.Ala1488=) | 2318 | FLNC | Likely benign | 755909576 | RCV001498983; | N | 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 | 7 | 128488006 | 128488006 | | | 128488006 | - | | | NM_001458.5(FLNC):c.4464C>G (p.Ala1488=) | 2318 | FLNC | Likely benign | -1 | RCV002866693; | N | 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 | 7 | 128488006 | 128488006 | | | | - | | | NM_001458.5(FLNC):c.4465G>A (p.Glu1489Lys) | 2318 | FLNC | Uncertain significance | 766612482 | RCV001952137; | N | MONDO:MONDO: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 | 7 | 128488007 | 128488007 | | | 128488007 | - | | | NM_001458.5(FLNC):c.4467G>A (p.Glu1489=) | 2318 | FLNC | Likely benign | 1808631322 | RCV001425357; | N | 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 | 7 | 128488009 | 128488009 | | | 128488009 | - | | | NM_001458.5(FLNC):c.4468C>T (p.Pro1490Ser) | 2318 | FLNC | Likely benign | 754076573 | RCV001320367; | N | 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 | 7 | 128488010 | 128488010 | | | 128488010 | - | | | NM_001458.5(FLNC):c.4471G>A (p.Val1491Met) | 2318 | FLNC | Uncertain significance | 186904046 | RCV001051766|RCV002471020|RCV003283906; | N | 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:614065, Orphanet:63273|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047 | 7 | 128488013 | 128488013 | | | 7:g.128488013G>A | - | | | NM_001458.5(FLNC):c.4474G>A (p.Glu1492Lys) | 2318 | FLNC | Uncertain significance | 71581926 | RCV000695976|RCV002477579|RCV002532341; | N | 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:0013550,MedGen:C3279722,OMIM:614065 | 7 | 128488016 | 128488016 | | | NC_000007.13:g.128488016G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4475A>C (p.Glu1492Ala) | 2318 | FLNC | Uncertain significance | -1 | RCV002298289; | N | 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 | 7 | 128488017 | 128488017 | | | 128488017 | - | | | NM_001458.5(FLNC):c.4479G>A (p.Val1493=) | 2318 | FLNC | Likely benign | 756021559 | RCV001430921; | N | 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 | 7 | 128488021 | 128488021 | | | 7:g.128488021G>A | - | | | NM_001458.5(FLNC):c.4480C>T (p.Arg1494Trp) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 779079128 | RCV000529464|RCV000714608|RCV000714609|RCV002330943|RCV003144354; | N | 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:MONDO:0012289,MedGen:C1836050,OMIM:609524 | 7 | 128488022 | 128488022 | | | 7:g.128488022C>T | ClinGen:CA4475355 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4481G>A (p.Arg1494Gln) | 2318 | FLNC | Uncertain significance | 1241325618 | RCV000813558; | N | 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 | 7 | 128488023 | 128488023 | | | 7:g.128488023G>A | - | | | NM_001458.5(FLNC):c.4483G>A (p.Asp1495Asn) | 2318 | FLNC | Uncertain significance | 748265400 | RCV001309192; | N | 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 | 7 | 128488025 | 128488025 | | | 128488025 | - | | | NM_001458.5(FLNC):c.4485C>T (p.Asp1495=) | 2318 | FLNC | Likely benign | 373198674 | RCV001477658; | N | 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 | 7 | 128488027 | 128488027 | | | 128488027 | - | | | NM_001458.5(FLNC):c.4487A>G (p.Asn1496Ser) | 2318 | FLNC | Uncertain significance | -1 | RCV002694977; | N | 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 | 7 | 128488029 | 128488029 | | | NC_000007.13:g.128488029A>G | - | | | NM_001458.5(FLNC):c.4488T>C (p.Asn1496=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 377258966 | RCV000592821|RCV001086237|RCV001701097|RCV002331022; | N | MedGen: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:CN230736 | 7 | 128488030 | 128488030 | | | 7:g.128488030T>C | ClinGen:CA4475359 | CN169374 not specified; | | NM_001458.5(FLNC):c.4497C>T (p.Gly1499=) | 2318 | FLNC | Uncertain significance | 1808633213 | RCV001042511; | N | 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 | 7 | 128488039 | 128488039 | | | 7:g.128488039C>T | - | | | NM_001458.5(FLNC):c.4505C>T (p.Thr1502Ile) | 2318 | FLNC | Likely benign | -1 | RCV003076812; | N | 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 | 7 | 128488047 | 128488047 | | | NC_000007.13:g.128488047C>T | - | | | NM_001458.5(FLNC):c.4507G>A (p.Val1503Ile) | 2318 | FLNC | Uncertain significance | -1 | RCV003078802|RCV003377872; | N | MONDO:MONDO: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 | 7 | 128488049 | 128488049 | | | NC_000007.13:g.128488049G>A | - | | | NM_001458.5(FLNC):c.4512C>T (p.His1504=) | 2318 | FLNC | Likely benign | 370528183 | RCV001465896|RCV002342045; | N | 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 | 7 | 128488054 | 128488054 | | | 128488054 | - | | | NM_001458.5(FLNC):c.4513T>C (p.Tyr1505His) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 761352737 | RCV001208838|RCV002339535; | N | 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:CN230736 | 7 | 128488055 | 128488055 | | | 7:g.128488055T>C | - | | | NM_001458.5(FLNC):c.4516A>G (p.Thr1506Ala) | 2318 | FLNC | Uncertain significance | 771974318 | RCV001920869|RCV002334884; | N | 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:CN230736 | 7 | 128488058 | 128488058 | | | 128488058 | - | | | NM_001458.5(FLNC):c.4517C>G (p.Thr1506Ser) | 2318 | FLNC | Uncertain significance | 1808634430 | RCV001309128|RCV002341620|RCV003314684; | N | 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|MedGen:CN517202 | 7 | 128488059 | 128488059 | | | 128488059 | - | | | NM_001458.5(FLNC):c.4519C>A (p.Pro1507Thr) | 2318 | FLNC | Uncertain significance | -1 | RCV002286941|RCV003097707; | N | MedGen: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 | 7 | 128488061 | 128488061 | | | 128488061 | - | | | NM_001458.5(FLNC):c.4525A>G (p.Thr1509Ala) | 2318 | FLNC | Likely benign | -1 | RCV002603769; | N | 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 | 7 | 128488067 | 128488067 | | | NC_000007.13:g.128488067A>G | - | | | NM_001458.5(FLNC):c.4530C>T (p.Asp1510=) | 2318 | FLNC | Likely benign | 565243603 | RCV002220225; | N | MONDO:MONDO: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 | 7 | 128488072 | 128488072 | | | 128488072 | - | | | NM_001458.5(FLNC):c.4531G>A (p.Gly1511Arg) | 2318 | FLNC | Uncertain significance | 1445118718 | RCV001966868; | N | 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 | 7 | 128488073 | 128488073 | | | 128488073 | - | | | NM_001458.5(FLNC):c.4536C>T (p.Pro1512=) | 2318 | FLNC | Likely benign | -1 | RCV002949485; | N | 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 | 7 | 128488078 | 128488078 | | | | - | | | NM_001458.5(FLNC):c.4539C>T (p.Tyr1513=) | 2318 | FLNC | Likely benign | 759632987 | RCV001443716; | N | MONDO:MONDO: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 | 7 | 128488081 | 128488081 | | | 128488081 | - | | | NM_001458.5(FLNC):c.4541C>T (p.Thr1514Met) | 2318 | FLNC | Uncertain significance | 1159701068 | RCV001071297; | N | 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 | 7 | 128488083 | 128488083 | | | 7:g.128488083C>T | - | | | NM_001458.5(FLNC):c.4542G>A (p.Thr1514=) | 2318 | FLNC | Likely benign | -1 | RCV003075341|RCV003427561; | N | 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 | 7 | 128488084 | 128488084 | | | | - | | | NM_001458.5(FLNC):c.4548C>T (p.Ala1516=) | 2318 | FLNC | Likely benign | 376441465 | RCV001426458|RCV002341922; | N | 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 | 7 | 128488090 | 128488090 | | | 128488090 | - | | | NM_001458.5(FLNC):c.4549G>A (p.Val1517Ile) | 2318 | FLNC | Uncertain significance | 532654321 | RCV000649062|RCV002334176; | N | 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:CN230736 | 7 | 128488091 | 128488091 | | | 7:g.128488091G>A | ClinGen:CA4475374 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4550T>C (p.Val1517Ala) | 2318 | FLNC | Uncertain significance | -1 | RCV002610891; | N | 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 | 7 | 128488092 | 128488092 | | | NC_000007.13:g.128488092T>C | - | | | NM_001458.5(FLNC):c.4552A>C (p.Lys1518Gln) | 2318 | FLNC | Uncertain significance | 778417108 | RCV001994416; | N | 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 | 7 | 128488094 | 128488094 | | | 128488094 | - | | | NM_001458.5(FLNC):c.4553A>G (p.Lys1518Arg) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 201635205 | RCV000176640|RCV001088530|RCV002326965|RCV003150050|RCV003224192; | N | 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:CN230736|Human Phenotype | 7 | 128488095 | 128488095 | | | 7:g.128488095A>G | ClinGen:CA242668 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4556A>G (p.Tyr1519Cys) | 2318 | FLNC | Uncertain significance | 1012086057 | RCV000818350|RCV001664435|RCV002336696; | N | 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:CN517202|MedGen:CN230736 | 7 | 128488098 | 128488098 | | | 7:g.128488098A>G | - | | | NM_001458.5(FLNC):c.4557T>A (p.Tyr1519Ter) | 2318 | FLNC | Pathogenic | 2128937364 | RCV001389885; | N | 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 | 7 | 128488099 | 128488099 | | | 128488099 | - | | | NM_001458.5(FLNC):c.4560T>C (p.Ala1520=) | 2318 | FLNC | Likely benign | 2128937366 | RCV002076749; | N | MONDO:MONDO: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 | 7 | 128488102 | 128488102 | | | 128488102 | - | | | NM_001458.5(FLNC):c.4564del (p.Gln1522fs) | 2318 | FLNC | Pathogenic | 2128937368 | RCV001999805; | N | 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 | 7 | 128488105 | 128488105 | | | 128488104 | - | | | NM_001458.5(FLNC):c.4564C>T (p.Gln1522Ter) | 2318 | FLNC | Pathogenic | -1 | RCV003021321; | N | 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 | 7 | 128488106 | 128488106 | | | NC_000007.13:g.128488106C>T | - | | | NM_001458.5(FLNC):c.4565A>G (p.Gln1522Arg) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1022106059 | RCV000553801|RCV002341414; | N | 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:CN230736 | 7 | 128488107 | 128488107 | | | NC_000007.13:g.128488107A>G | ClinGen:CA166183552 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4566G>T (p.Gln1522His) | 2318 | FLNC | Uncertain significance | 559667295 | RCV000577934|RCV000578011|RCV000578090|RCV000578070|RCV000577958|RCV001308487; | N | MONDO: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 Phe | 7 | 128488108 | 128488108 | | | NC_000007.13:g.128488108G>T | ClinGen:CA4475377 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4570G>A (p.Val1524Met) | 2318 | FLNC | Uncertain significance | 1358403336 | RCV000649087; | N | 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 | 7 | 128488112 | 128488112 | | | NC_000007.13:g.128488112G>A | ClinGen:CA369202036 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4572G>A (p.Val1524=) | 2318 | FLNC | Likely benign | 1808638682 | RCV002217355; | N | 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:614065, Orphanet:63273 | 7 | 128488114 | 128488114 | | | 128488114 | - | | | NM_001458.5(FLNC):c.4575A>G (p.Pro1525=) | 2318 | FLNC | Likely benign | -1 | RCV003043780; | N | 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 | 7 | 128488117 | 128488117 | | | | - | | | NM_001458.5(FLNC):c.4576C>T (p.Arg1526Cys) | 2318 | FLNC | Uncertain significance | 746275035 | RCV000320796|RCV000798015|RCV001823722; | N | MedGen: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:CN169374 | 7 | 128488118 | 128488118 | | | 7:g.128488118C>T | ClinGen:CA4475378 | CN169374 not specified; | | NM_001458.5(FLNC):c.4576C>G (p.Arg1526Gly) | 2318 | FLNC | Uncertain significance | 746275035 | RCV001038744|RCV001528363; | N | 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|MedGen:CN517202 | 7 | 128488118 | 128488118 | | | 7:g.128488118C>G | - | | | NM_001458.5(FLNC):c.4577G>A (p.Arg1526His) | 2318 | FLNC | Uncertain significance | 374729872 | RCV001202879|RCV002339506|RCV003145372; | N | 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:CN230736|MedGen:CN517202 | 7 | 128488119 | 128488119 | | | 7:g.128488119G>A | - | | | NM_001458.5(FLNC):c.4578C>A (p.Arg1526=) | 2318 | FLNC | Likely benign | -1 | RCV002596227; | N | 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 | 7 | 128488120 | 128488120 | | | | - | | | NM_001458.5(FLNC):c.4579A>G (p.Ser1527Gly) | 2318 | FLNC | Uncertain significance | 747642919 | RCV000529681; | N | 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 | 7 | 128488121 | 128488121 | | | 7:g.128488121A>G | ClinGen:CA4475381 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4580+1G>A | 2318 | FLNC | Likely pathogenic | -1 | RCV003039300; | N | 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 | 7 | 128488123 | 128488123 | | | NC_000007.13:g.128488123G>A | - | | | NM_001458.5(FLNC):c.4580+12C>A | 2318 | FLNC | Likely benign | -1 | RCV002871840; | N | 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 | 7 | 128488134 | 128488134 | | | NC_000007.13:g.128488134C>A | - | | | NM_001458.5(FLNC):c.4580+20T>C | 2318 | FLNC | Likely benign | -1 | RCV002790115; | N | 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 | 7 | 128488142 | 128488142 | | | NC_000007.13:g.128488142T>C | - | | | NM_001458.5(FLNC):c.4581-12C>T | 2318 | FLNC | Likely benign | 781742167 | RCV000602751|RCV002529627; | N | MedGen: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 | 7 | 128488603 | 128488603 | | | 7:g.128488603C>T | ClinGen:CA4475395 | CN169374 not specified; | | NM_001458.5(FLNC):c.4581-10_4581-8del | 2318 | FLNC | Likely benign | 2128937515 | RCV002164516; | N | 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 | 7 | 128488603 | 128488605 | | | 128488602 | - | | | NC_000007.14:g.(?_128848551)_(128848992_?)del | 2318 | FLNC | Pathogenic | -1 | RCV001031450; | N | 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 | 7 | 128488605 | 128489046 | | | -1 | - | | | NM_001458.5(FLNC):c.4581-10G>A | 2318 | FLNC | Likely benign | 2128937516 | RCV001393599; | N | 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 | 7 | 128488605 | 128488605 | | | 128488605 | - | | | NM_001458.5(FLNC):c.4581-10G>C | 2318 | FLNC | Likely benign | -1 | RCV003020699; | N | 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 | 7 | 128488605 | 128488605 | | | NC_000007.13:g.128488605G>C | - | | | NM_001458.5(FLNC):c.4581-6C>T | 2318 | FLNC | Likely benign | -1 | RCV003110654; | N | 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 | 7 | 128488609 | 128488609 | | | NC_000007.13:g.128488609C>T | - | | | NM_001458.5(FLNC):c.4581-5T>A | 2318 | FLNC | Benign/Likely benign | 368660628 | RCV000599018|RCV001080589|RCV002341415|RCV002506361; | N | 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:171445|MedGen:CN230736|MONDO:MONDO:001 | 7 | 128488610 | 128488610 | | | 7:g.128488610T>A | ClinGen:CA4475396 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4581C>A (p.Ser1527Arg) | 2318 | FLNC | Uncertain significance | 2128937518 | RCV001877967; | N | 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 | 7 | 128488615 | 128488615 | | | 128488615 | - | | | NM_001458.5(FLNC):c.4589A>G (p.Lys1530Arg) | 2318 | FLNC | Uncertain significance | 756526090 | RCV000517179|RCV000699163; | N | 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:CN239310 | 7 | 128488623 | 128488623 | | | 7:g.128488623A>G | ClinGen:CA4475397 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4590G>T (p.Lys1530Asn) | 2318 | FLNC | Uncertain significance | 778534100 | RCV000811083|RCV002336668|RCV003145166; | N | 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|MedGen:CN517202 | 7 | 128488624 | 128488624 | | | 7:g.128488624G>T | - | | | NM_001458.5(FLNC):c.4593C>G (p.Ile1531Met) | 2318 | FLNC | Uncertain significance | 371988433 | RCV000649178; | N | 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 | 7 | 128488627 | 128488627 | | | 7:g.128488627C>G | ClinGen:CA4475399 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4597G>A (p.Val1533Ile) | 2318 | FLNC | Uncertain significance | 1554399973 | RCV000649076; | N | 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 | 7 | 128488631 | 128488631 | | | 7:g.128488631G>A | ClinGen:CA369202105 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4604C>A (p.Pro1535Gln) | 2318 | FLNC | Uncertain significance | -1 | RCV002597593; | N | 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 | 7 | 128488638 | 128488638 | | | NC_000007.13:g.128488638C>A | - | | | NM_001458.5(FLNC):c.4605A>G (p.Pro1535=) | 2318 | FLNC | Likely benign | 1017137913 | RCV001466111; | N | 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 | 7 | 128488639 | 128488639 | | | 128488639 | - | | | NM_001458.5(FLNC):c.4607C>T (p.Ala1536Val) | 2318 | FLNC | Uncertain significance | 1808665032 | RCV001204359; | N | 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 | 7 | 128488641 | 128488641 | | | 7:g.128488641C>T | - | | | NM_001458.5(FLNC):c.4611T>C (p.His1537=) | 2318 | FLNC | Likely benign | 376222096 | RCV000930951|RCV002336931; | N | 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:614065, Orphanet:63273|MedGen:CN230736 | 7 | 128488645 | 128488645 | | | 7:g.128488645T>C | - | | | NM_001458.5(FLNC):c.4614T>C (p.Asp1538=) | 2318 | FLNC | Likely benign | 746563597 | RCV001424042|RCV001664873|RCV002341918; | N | 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:C3661900|MedGen:CN230736 | 7 | 128488648 | 128488648 | | | 128488648 | - | | | NM_001458.5(FLNC):c.4615G>A (p.Ala1539Thr) | 2318 | FLNC | Pathogenic | 1562999443 | RCV000239536|RCV001854932; | N | 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; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047 | 7 | 128488649 | 128488649 | | | NC_000007.13:g.128488649G>A | OMIM:102565.0005 | | | NM_001458.5(FLNC):c.4616C>T (p.Ala1539Val) | 2318 | FLNC | Uncertain significance | 770746660 | RCV000818418; | N | 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 | 7 | 128488650 | 128488650 | | | 7:g.128488650C>T | - | | | NM_001458.5(FLNC):c.4621A>T (p.Lys1541Ter) | 2318 | FLNC | Pathogenic/Likely pathogenic | 1562999451 | RCV000700794|RCV002332477|RCV003442044; | N | 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:CN230736|MedGen:C3661900 | 7 | 128488655 | 128488655 | | | 7:g.128488655A>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4621A>G (p.Lys1541Glu) | 2318 | FLNC | Uncertain significance | -1 | RCV003062984; | N | 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 | 7 | 128488655 | 128488655 | | | NC_000007.13:g.128488655A>G | - | | | NM_001458.5(FLNC):c.4626G>A (p.Val1542=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 776682674 | RCV001820704|RCV002074347; | N | MedGen: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 | 7 | 128488660 | 128488660 | | | 128488660 | - | | | NM_001458.5(FLNC):c.4627C>T (p.Arg1543Trp) | 2318 | FLNC | Uncertain significance | 745648230 | RCV000531313|RCV000788621|RCV002330945; | N | 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:CN517202|MedGen:CN230736 | 7 | 128488661 | 128488661 | | | 7:g.128488661C>T | ClinGen:CA4475405 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4628G>A (p.Arg1543Gln) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 369178040 | RCV000802879|RCV002336616|RCV003144623; | N | 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:614065, Orphanet:63273|MedGen:CN230736|MedGen:C3661900 | 7 | 128488662 | 128488662 | | | 7:g.128488662G>A | - | | | NM_001458.5(FLNC):c.4632C>G (p.Ala1544=) | 2318 | FLNC | Likely benign | -1 | RCV002823756; | N | 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 | 7 | 128488666 | 128488666 | | | | - | | | NM_001458.5(FLNC):c.4634G>T (p.Ser1545Ile) | 2318 | FLNC | Uncertain significance | 2128937535 | RCV002033764; | N | 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 | 7 | 128488668 | 128488668 | | | 128488668 | - | | | NM_001458.5(FLNC):c.4635C>T (p.Ser1545=) | 2318 | FLNC | Likely benign | 371367894 | RCV001415692|RCV003298692; | N | 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:CN230736 | 7 | 128488669 | 128488669 | | | 128488669 | - | | | NM_001458.5(FLNC):c.4636G>A (p.Gly1546Ser) | 2318 | FLNC | Pathogenic/Likely pathogenic | 774263134 | RCV000543625|RCV000786137|RCV002272284; | N | 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:C3661900|MONDO:MONDO:0014883,MedGen:C431 | 7 | 128488670 | 128488670 | | | 7:g.128488670G>A | ClinGen:CA4475410 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4636G>T (p.Gly1546Cys) | 2318 | FLNC | Uncertain significance | 774263134 | RCV001944842; | N | 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 | 7 | 128488670 | 128488670 | | | 128488670 | - | | | NM_001458.5(FLNC):c.4637G>A (p.Gly1546Asp) | 2318 | FLNC | Likely pathogenic | 1427917546 | RCV002037367; | N | 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 | 7 | 128488671 | 128488671 | | | 128488671 | - | | | NM_001458.5(FLNC):c.4639C>T (p.Pro1547Ser) | 2318 | FLNC | Uncertain significance | 2128937538 | RCV001914486; | N | 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:614065, Orphanet:63273 | 7 | 128488673 | 128488673 | | | 128488673 | - | | | NM_001458.5(FLNC):c.4644C>A (p.Gly1548=) | 2318 | FLNC | Likely benign | 762001332 | RCV001458018; | N | 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 | 7 | 128488678 | 128488678 | | | 128488678 | - | | | NM_001458.5(FLNC):c.4645C>T (p.Leu1549Phe) | 2318 | FLNC | Uncertain significance | 2128937539 | RCV001989091; | N | 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:614065, Orphanet:63273 | 7 | 128488679 | 128488679 | | | 128488679 | - | | | NM_001458.5(FLNC):c.4650C>T (p.Asn1550=) | 2318 | FLNC | Likely benign | 547733871 | RCV001411377|RCV002329444|RCV002504686; | N | MONDO:MONDO: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:C327 | 7 | 128488684 | 128488684 | | | 128488684 | - | | | NM_001458.5(FLNC):c.4651G>A (p.Ala1551Thr) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 565918031 | RCV000649169|RCV001574184|RCV002331237; | N | 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:C3661900|MedGen:CN230736 | 7 | 128488685 | 128488685 | | | NC_000007.13:g.128488685G>A | ClinGen:CA4475414 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4653C>T (p.Ala1551=) | 2318 | FLNC | Likely benign | 939470112 | RCV002188070; | N | 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 | 7 | 128488687 | 128488687 | | | 128488687 | - | | | NM_001458.5(FLNC):c.4660A>C (p.Ile1554Leu) | 2318 | FLNC | Uncertain significance | 754224673 | RCV000649104|RCV001766402|RCV002331235; | N | 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:CN517202|MedGen:CN230736 | 7 | 128488694 | 128488694 | | | 7:g.128488694A>C | ClinGen:CA4475416 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4661T>C (p.Ile1554Thr) | 2318 | FLNC | Uncertain significance | 777526166 | RCV001918844|RCV002334874; | N | 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|MedGen:CN230736 | 7 | 128488695 | 128488695 | | | 128488695 | - | | | NM_001458.5(FLNC):c.4662C>T (p.Ile1554=) | 2318 | FLNC | Likely benign | 374683306 | RCV000559677|RCV002341416; | N | 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 | 7 | 128488696 | 128488696 | | | NC_000007.13:g.128488696C>T | ClinGen:CA4475420 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4675C>A (p.Pro1559Thr) | 2318 | FLNC | Uncertain significance | -1 | RCV002614257; | N | 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 | 7 | 128488709 | 128488709 | | | NC_000007.13:g.128488709C>A | - | | | NM_001458.5(FLNC):c.4678G>A (p.Val1560Met) | 2318 | FLNC | Uncertain significance | 1351915127 | RCV001063488; | N | 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 | 7 | 128488712 | 128488712 | | | 7:g.128488712G>A | - | | | NM_001458.5(FLNC):c.4678G>C (p.Val1560Leu) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1351915127 | RCV001992843|RCV002281204|RCV002334956; | N | 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:C3661900|MedGen:CN230736 | 7 | 128488712 | 128488712 | | | 128488712 | - | | | NM_001458.5(FLNC):c.4682del (p.Glu1561fs) | 2318 | FLNC | Pathogenic | 2128937556 | RCV001949298; | N | 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 | 7 | 128488716 | 128488716 | | | 128488715 | - | | | NM_001458.5(FLNC):c.4687A>C (p.Thr1563Pro) | 2318 | FLNC | Uncertain significance | 1490741362 | RCV001366554; | N | 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 | 7 | 128488721 | 128488721 | | | 128488721 | - | | | NM_001458.5(FLNC):c.4689C>A (p.Thr1563=) | 2318 | FLNC | Likely benign | 2128937560 | RCV001466846; | N | 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 | 7 | 128488723 | 128488723 | | | 128488723 | - | | | NM_001458.5(FLNC):c.4695C>T (p.Asp1565=) | 2318 | FLNC | Likely benign | 769871754 | RCV000827282|RCV001089447|RCV002341417; | N | MedGen: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:CN230736 | 7 | 128488729 | 128488729 | | | 7:g.128488729C>T | ClinGen:CA4475423 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4696G>A (p.Ala1566Thr) | 2318 | FLNC | Uncertain significance | 1161262954 | RCV001779830|RCV002334695|RCV002541109; | N | MedGen: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:63273 | 7 | 128488730 | 128488730 | | | 128488730 | - | | | NM_001458.5(FLNC):c.4697C>G (p.Ala1566Gly) | 2318 | FLNC | Uncertain significance | 1808670044 | RCV001897639; | N | 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 | 7 | 128488731 | 128488731 | | | 128488731 | - | | | NM_001458.5(FLNC):c.4698_4699delinsTT (p.Arg1567Trp) | 2318 | FLNC | Uncertain significance | 2128937563 | RCV002028973; | N | 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 | 7 | 128488732 | 128488733 | | | 128488732 | - | | | NM_001458.5(FLNC):c.4699C>T (p.Arg1567Trp) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 369842920 | RCV000792385|RCV002487644|RCV003307422; | N | 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:C3279722,OMIM:614065 | 7 | 128488733 | 128488733 | | | 7:g.128488733C>T | - | | | NM_001458.5(FLNC):c.4700G>A (p.Arg1567Gln) | 2318 | FLNC | Benign/Likely benign | 2291569 | RCV000117076|RCV000711689|RCV001510686|RCV002326814; | N | MedGen: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:CN230736 | 7 | 128488734 | 128488734 | | | 7:g.128488734G>A | ClinGen:CA152865,UniProtKB:Q14315#VAR_015705 | CN169374 not specified; | | NM_001458.5(FLNC):c.4700G>T (p.Arg1567Leu) | 2318 | FLNC | Uncertain significance | 2291569 | RCV000492930|RCV000824615; | N | MedGen: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 | 7 | 128488734 | 128488734 | | | 7:g.128488734G>T | ClinGen:CA369202763 | CN169374 not specified; | | NM_001458.5(FLNC):c.4702G>A (p.Asp1568Asn) | 2318 | FLNC | Uncertain significance | 1449992399 | RCV001235995|RCV003322871; | N | 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 | 7 | 128488736 | 128488736 | | | 7:g.128488736G>A | - | | | NM_001458.5(FLNC):c.4704C>T (p.Asp1568=) | 2318 | FLNC | Likely benign | 749131315 | RCV000877434; | N | 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 | 7 | 128488738 | 128488738 | | | 7:g.128488738C>T | - | | | NM_001458.5(FLNC):c.4705G>A (p.Ala1569Thr) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 768737324 | RCV000536046|RCV002491079|RCV003159896; | N | 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:MONDO:0012289,MedGen:C1836050,OMIM:609524 | 7 | 128488739 | 128488739 | | | NC_000007.13:g.128488739G>A | ClinGen:CA4475425 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4707G>A (p.Ala1569=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 541323590 | RCV000544139|RCV002341418; | N | 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:CN230736 | 7 | 128488741 | 128488741 | | | 7:g.128488741G>A | ClinGen:CA166184187 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4710C>T (p.Gly1570=) | 2318 | FLNC | Benign | 774692750 | RCV000693349; | N | 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 | 7 | 128488744 | 128488744 | | | 7:g.128488744C>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4711G>A (p.Glu1571Lys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 761793156 | RCV001906579|RCV003146336|RCV003355631; | N | 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:C3661900|MedGen:CN230736 | 7 | 128488745 | 128488745 | | | 128488745 | - | | | NM_001458.5(FLNC):c.4716del (p.Leu1573fs) | 2318 | FLNC | Pathogenic | 1554400021 | RCV000529991; | N | 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 | 7 | 128488747 | 128488747 | | | 7:g.128488747_128488747del | ClinGen:CA658657722 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4716G>T (p.Gly1572=) | 2318 | FLNC | Likely benign | -1 | RCV003075634; | N | 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 | 7 | 128488750 | 128488750 | | | | - | | | NM_001458.5(FLNC):c.4718T>A (p.Leu1573Ter) | 2318 | FLNC | Pathogenic | 2128937575 | RCV001382273; | N | 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 | 7 | 128488752 | 128488752 | | | 128488752 | - | | | NM_001458.5(FLNC):c.4722C>T (p.Leu1574=) | 2318 | FLNC | Likely benign | 376933198 | RCV001457749; | N | 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 | 7 | 128488756 | 128488756 | | | 128488756 | - | | | NM_001458.5(FLNC):c.4724C>G (p.Thr1575Ser) | 2318 | FLNC | Likely benign | 773294974 | RCV001069530; | N | 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 | 7 | 128488758 | 128488758 | | | 7:g.128488758C>G | - | | | NM_001458.5(FLNC):c.4728C>T (p.Val1576=) | 2318 | FLNC | Likely benign | 1222823077 | RCV001730233|RCV002073417|RCV003150456; | N | MedGen: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:000 | 7 | 128488762 | 128488762 | | | 128488762 | - | | | NM_001458.5(FLNC):c.4729C>T (p.Gln1577Ter) | 2318 | FLNC | Pathogenic | 1585163755 | RCV000799303; | N | 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 | 7 | 128488763 | 128488763 | | | 7:g.128488763C>T | - | | | NM_001458.5(FLNC):c.4737+5G>A | 2318 | FLNC | Uncertain significance | 1808673722 | RCV001203091; | N | 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 | 7 | 128488776 | 128488776 | | | 7:g.128488776G>A | - | | | NM_001458.5(FLNC):c.4737+9_4737+10del | 2318 | FLNC | Benign | 794727437 | RCV000176729|RCV000556391|RCV001668338; | N | MedGen: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:CN517202 | 7 | 128488777 | 128488778 | | | 7:g.128488777_128488778del | ClinGen:CA202081 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4737+15A>G | 2318 | FLNC | Benign/Likely benign | 182734223 | RCV000439940|RCV001702652|RCV002062578; | N | MedGen: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:171445 | 7 | 128488786 | 128488786 | | | 7:g.128488786A>G | ClinGen:CA4475430 | CN169374 not specified; | | NM_001458.5(FLNC):c.4737+15A>C | 2318 | FLNC | Likely benign | 182734223 | RCV002076059; | N | 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 | 7 | 128488786 | 128488786 | | | 128488786 | - | | | NM_001458.5(FLNC):c.4737+18C>T | 2318 | FLNC | Likely benign | 778735721 | RCV000612263|RCV002063333; | N | MedGen: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 | 7 | 128488789 | 128488789 | | | 7:g.128488789C>T | ClinGen:CA4475432 | CN169374 not specified; | | NM_001458.5(FLNC):c.4737+19C>G | 2318 | FLNC | Likely benign | -1 | RCV002857016; | N | 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 | 7 | 128488790 | 128488790 | | | NC_000007.13:g.128488790C>G | - | | | NM_001458.5(FLNC):c.4737+20A>G | 2318 | FLNC | Likely benign | -1 | RCV003068004|RCV003331425; | N | 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 | 7 | 128488791 | 128488791 | | | NC_000007.13:g.128488791A>G | - | | | NM_001458.5(FLNC):c.4738-17C>T | 2318 | FLNC | Likely benign | 2128937608 | RCV002210126; | N | MONDO:MONDO: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 | 7 | 128488830 | 128488830 | | | 128488830 | - | | | NM_001458.5(FLNC):c.4738-7C>T | 2318 | FLNC | Likely benign | 1808677827 | RCV001395062; | N | 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 | 7 | 128488840 | 128488840 | | | 128488840 | - | | | NM_001458.5(FLNC):c.4738-6C>T | 2318 | FLNC | Likely benign | 771410017 | RCV002086655; | N | 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 | 7 | 128488841 | 128488841 | | | 128488841 | - | | | NM_001458.5(FLNC):c.4738-1G>A | 2318 | FLNC | Likely pathogenic | 1808678197 | RCV001377041; | N | 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 | 7 | 128488846 | 128488846 | | | 128488846 | - | | | NM_001458.5(FLNC):c.4740C>T (p.Asp1580=) | 2318 | FLNC | Likely benign | 759816924 | RCV001434948; | N | 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 | 7 | 128488849 | 128488849 | | | 128488849 | - | | | NM_001458.5(FLNC):c.4740C>A (p.Asp1580Glu) | 2318 | FLNC | Uncertain significance | -1 | RCV003114883; | N | 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 | 7 | 128488849 | 128488849 | | | NC_000007.13:g.128488849C>A | - | | | NM_001458.5(FLNC):c.4741C>A (p.Pro1581Thr) | 2318 | FLNC | Uncertain significance | 972936640 | RCV002039220|RCV002334728; | N | MONDO:MONDO: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:CN230736 | 7 | 128488850 | 128488850 | | | 128488850 | - | | | NM_001458.5(FLNC):c.4742C>A (p.Pro1581His) | 2318 | FLNC | Uncertain significance | 1365087680 | RCV001346641; | N | 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 | 7 | 128488851 | 128488851 | | | 128488851 | - | | | NM_001458.5(FLNC):c.4743C>G (p.Pro1581=) | 2318 | FLNC | Likely benign | 765574147 | RCV002147320; | N | 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 | 7 | 128488852 | 128488852 | | | 128488852 | - | | | NM_001458.5(FLNC):c.4744G>A (p.Glu1582Lys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 753022721 | RCV000649097|RCV003144435; | N | 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:CN517202 | 7 | 128488853 | 128488853 | | | 7:g.128488853G>A | ClinGen:CA4475452 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4747G>A (p.Gly1583Ser) | 2318 | FLNC | Uncertain significance | 2128937618 | RCV002028780|RCV003170565; | N | 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:CN230736 | 7 | 128488856 | 128488856 | | | 128488856 | - | | | NM_001458.5(FLNC):c.4752G>A (p.Lys1584=) | 2318 | FLNC | Likely benign | -1 | RCV002644314|RCV003162087; | N | 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 | 7 | 128488861 | 128488861 | | | | - | | | NM_001458.5(FLNC):c.4755del (p.Lys1586fs) | 2318 | FLNC | Pathogenic | 2128937622 | RCV001382767; | N | 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 | 7 | 128488862 | 128488862 | | | 128488861 | - | | | NM_001458.5(FLNC):c.4762G>C (p.Ala1588Pro) | 2318 | FLNC | Uncertain significance | 761482137 | RCV000689939; | N | 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 | 7 | 128488871 | 128488871 | | | 7:g.128488871G>C | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4763C>G (p.Ala1588Gly) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 148545460 | RCV000537141|RCV001560414|RCV002330946; | N | 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:C3661900|MedGen:CN230736 | 7 | 128488872 | 128488872 | | | 7:g.128488872C>G | ClinGen:CA4475454 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4767C>T (p.Asn1589=) | 2318 | FLNC | Likely benign | 2128937627 | RCV002130091; | N | 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 | 7 | 128488876 | 128488876 | | | 128488876 | - | | | NM_001458.5(FLNC):c.4769T>G (p.Ile1590Ser) | 2318 | FLNC | Uncertain significance | 1808679455 | RCV001341069; | N | 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 | 7 | 128488878 | 128488878 | | | 128488878 | - | | | NM_001458.5(FLNC):c.4771C>T (p.Arg1591Trp) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 576453637 | RCV000695251|RCV002334312|RCV003144528; | N | 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:CN230736|MedGen:C3661900 | 7 | 128488880 | 128488880 | | | 7:g.128488880C>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4771C>A (p.Arg1591=) | 2318 | FLNC | Likely benign | 576453637 | RCV002082269; | N | 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 | 7 | 128488880 | 128488880 | | | 128488880 | - | | | NM_001458.5(FLNC):c.4772G>A (p.Arg1591Gln) | 2318 | FLNC | Uncertain significance | 755741955 | RCV001344269; | N | 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 | 7 | 128488881 | 128488881 | | | 128488881 | - | | | NM_001458.5(FLNC):c.4775A>G (p.Asp1592Gly) | 2318 | FLNC | Uncertain significance | 1808679952 | RCV001241836; | N | 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 | 7 | 128488884 | 128488884 | | | 7:g.128488884A>G | - | | | NM_001458.5(FLNC):c.4775A>T (p.Asp1592Val) | 2318 | FLNC | Uncertain significance | -1 | RCV003082396; | N | 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 | 7 | 128488884 | 128488884 | | | NC_000007.13:g.128488884A>T | - | | | NM_001458.5(FLNC):c.4779T>G (p.Asn1593Lys) | 2318 | FLNC | Uncertain significance | 948081935 | RCV001546397|RCV001319141; | N | MedGen: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 | 7 | 128488888 | 128488888 | | | 128488888 | - | | | NM_001458.5(FLNC):c.4783G>A (p.Asp1595Asn) | 2318 | FLNC | Uncertain significance | 780133859 | RCV001874841|RCV003146291; | N | MONDO:MONDO: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 | 7 | 128488892 | 128488892 | | | 128488892 | - | | | NM_001458.5(FLNC):c.4790C>T (p.Thr1597Met) | 2318 | FLNC | Uncertain significance | 753742681 | RCV000550050|RCV002497176; | N | 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:MONDO:0012289,MedGen:C1836050,OMIM:609524 | 7 | 128488899 | 128488899 | | | 7:g.128488899C>T | ClinGen:CA4475458 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4791G>A (p.Thr1597=) | 2318 | FLNC | Likely benign | 374180766 | RCV000940354|RCV003307736; | N | 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 | 7 | 128488900 | 128488900 | | | 7:g.128488900G>A | - | | | NM_001458.5(FLNC):c.4791G>T (p.Thr1597=) | 2318 | FLNC | Likely benign | -1 | RCV003112376; | N | 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 | 7 | 128488900 | 128488900 | | | | - | | | NM_001458.5(FLNC):c.4794C>A (p.Tyr1598Ter) | 2318 | FLNC | Pathogenic | 1808681247 | RCV001236890; | N | 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 | 7 | 128488903 | 128488903 | | | 7:g.128488903C>A | - | | | NM_001458.5(FLNC):c.4794C>T (p.Tyr1598=) | 2318 | FLNC | Likely benign | 1808681247 | RCV001963257; | N | 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 | 7 | 128488903 | 128488903 | | | 128488903 | - | | | NM_001458.5(FLNC):c.4795A>G (p.Thr1599Ala) | 2318 | FLNC | Uncertain significance | 2643767 | RCV000818480|RCV002336697; | N | 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 | 7 | 128488904 | 128488904 | | | 7:g.128488904A>G | - | | | NM_001458.5(FLNC):c.4796C>T (p.Thr1599Ile) | 2318 | FLNC | Uncertain significance | 2128937641 | RCV001991038; | N | 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 | 7 | 128488905 | 128488905 | | | 128488905 | - | | | NM_001458.5(FLNC):c.4800G>A (p.Val1600=) | 2318 | FLNC | Likely benign | 747928612 | RCV001417057|RCV002341905; | N | 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:CN230736 | 7 | 128488909 | 128488909 | | | 128488909 | - | | | NM_001458.5(FLNC):c.4803C>T (p.Ser1601=) | 2318 | FLNC | Likely benign | 371475710 | RCV001409053|RCV002341879; | N | 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:CN230736 | 7 | 128488912 | 128488912 | | | 128488912 | - | | | NM_001458.5(FLNC):c.4811C>T (p.Pro1604Leu) | 2318 | FLNC | Uncertain significance | 778021239 | RCV001238496; | N | 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 | 7 | 128488920 | 128488920 | | | 7:g.128488920C>T | - | | | NM_001458.5(FLNC):c.4812G>A (p.Pro1604=) | 2318 | FLNC | Likely benign | 553400393 | RCV001058699|RCV001700969|RCV001724219|RCV002339292; | N | 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:CN169374|MedGen:C3661900|MedGen:CN230736 | 7 | 128488921 | 128488921 | | | 7:g.128488921G>A | - | | | NM_001458.5(FLNC):c.4812G>T (p.Pro1604=) | 2318 | FLNC | Likely benign | -1 | RCV002966155; | N | 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 | 7 | 128488921 | 128488921 | | | | - | | | NM_001458.5(FLNC):c.4815C>T (p.Asp1605=) | 2318 | FLNC | Likely benign | 2128937651 | RCV001456140; | N | 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 | 7 | 128488924 | 128488924 | | | 128488924 | - | | | NM_001458.5(FLNC):c.4817T>A (p.Met1606Lys) | 2318 | FLNC | Uncertain significance | 1808683017 | RCV001302976; | N | 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 | 7 | 128488926 | 128488926 | | | 128488926 | - | | | NM_001458.5(FLNC):c.4825C>G (p.Arg1609Gly) | 2318 | FLNC | Uncertain significance | 374756527 | RCV000696973|RCV002334327; | N | 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:CN230736 | 7 | 128488934 | 128488934 | | | 7:g.128488934C>G | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4825C>T (p.Arg1609Trp) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 374756527 | RCV000809766|RCV001585738; | N | 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:CN517202 | 7 | 128488934 | 128488934 | | | 7:g.128488934C>T | - | | | NM_001458.5(FLNC):c.4826G>A (p.Arg1609Gln) | 2318 | FLNC | Uncertain significance | 1168628508 | RCV000701023; | N | 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 | 7 | 128488935 | 128488935 | | | 7:g.128488935G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4831A>T (p.Thr1611Ser) | 2318 | FLNC | Uncertain significance | 770231264 | RCV001364441|RCV001773724; | N | 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 | 7 | 128488940 | 128488940 | | | 128488940 | - | | | NM_001458.5(FLNC):c.4832C>T (p.Thr1611Ile) | 2318 | FLNC | Uncertain significance | 1025308371 | RCV001055786|RCV002327319; | N | 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 | 7 | 128488941 | 128488941 | | | 7:g.128488941C>T | - | | | NM_001458.5(FLNC):c.4851C>T (p.Gly1617=) | 2318 | FLNC | Likely benign | 1357827460 | RCV001465004; | N | 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 | 7 | 128488960 | 128488960 | | | 128488960 | - | | | NM_001458.5(FLNC):c.4851C>A (p.Gly1617=) | 2318 | FLNC | Likely benign | -1 | RCV002877608; | N | 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 | 7 | 128488960 | 128488960 | | | | - | | | NM_001458.5(FLNC):c.4852G>A (p.Gly1618Ser) | 2318 | FLNC | Uncertain significance | 367824027 | RCV001983603; | N | 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 | 7 | 128488961 | 128488961 | | | 128488961 | - | | | NM_001458.5(FLNC):c.4857T>C (p.Asp1619=) | 2318 | FLNC | Likely benign | 1169437113 | RCV001408679; | N | 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 | 7 | 128488966 | 128488966 | | | 128488966 | - | | | NM_001458.5(FLNC):c.4858G>A (p.Glu1620Lys) | 2318 | FLNC | Uncertain significance | 1808685152 | RCV001304368|RCV003166722; | N | 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 | 7 | 128488967 | 128488967 | | | 128488967 | - | | | NM_001458.5(FLNC):c.4860G>A (p.Glu1620=) | 2318 | FLNC | Likely benign | 1397680696 | RCV001417968|RCV003298702; | N | 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 | 7 | 128488969 | 128488969 | | | 128488969 | - | | | NM_001458.5(FLNC):c.4868A>G (p.Tyr1623Cys) | 2318 | FLNC | Uncertain significance | 1585164018 | RCV001317036; | N | 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 | 7 | 128488977 | 128488977 | | | 128488977 | - | | | NM_001458.5(FLNC):c.4871C>T (p.Ser1624Leu) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 879255639 | RCV000239540|RCV001223109|RCV001265576|RCV002255096|RCV003150143|RCV003372670; | N | MONDO: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:MOND | 7 | 128488980 | 128488980 | | | NC_000007.13:g.128488980C>T | ClinGen:CA10586205,UniProtKB:Q14315#VAR_077039,OMIM:102565.0008 | CN237821 Cardiomyopathy, familial restrictive, 5; | | NM_001458.5(FLNC):c.4872G>A (p.Ser1624=) | 2318 | FLNC | Likely benign | 767264014 | RCV000649242|RCV002334179; | N | 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:CN230736 | 7 | 128488981 | 128488981 | | | 7:g.128488981G>A | ClinGen:CA4475471 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4873C>T (p.Pro1625Ser) | 2318 | FLNC | Uncertain significance | 2128937664 | RCV001920784; | N | 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 | 7 | 128488982 | 128488982 | | | 128488982 | - | | | NM_001458.5(FLNC):c.4874C>T (p.Pro1625Leu) | 2318 | FLNC | Uncertain significance | 1585164029 | RCV000811921; | N | 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 | 7 | 128488983 | 128488983 | | | 7:g.128488983C>T | - | | | NM_001458.5(FLNC):c.4878C>T (p.Phe1626=) | 2318 | FLNC | Likely benign | 750164635 | RCV002094529; | N | 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 | 7 | 128488987 | 128488987 | | | 128488987 | - | | | NM_001458.5(FLNC):c.4879C>T (p.Arg1627Cys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 760407609 | RCV000526189|RCV002341419; | N | 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:CN230736 | 7 | 128488988 | 128488988 | | | 7:g.128488988C>T | ClinGen:CA4475473 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4880G>A (p.Arg1627His) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 751592993 | RCV000649149|RCV000659090|RCV002338860; | N | 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:CN230736 | 7 | 128488989 | 128488989 | | | 7:g.128488989G>A | ClinGen:CA10606594 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4880G>T (p.Arg1627Leu) | 2318 | FLNC | Uncertain significance | 751592993 | RCV001870912; | N | 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 | 7 | 128488989 | 128488989 | | | 128488989 | - | | | NM_001458.5(FLNC):c.4884C>A (p.Ile1628=) | 2318 | FLNC | Likely benign | 1808686843 | RCV001427718; | N | 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 | 7 | 128488993 | 128488993 | | | 128488993 | - | | | NM_001458.5(FLNC):c.4887T>A (p.His1629Gln) | 2318 | FLNC | Uncertain significance | 1585164043 | RCV001915523; | N | 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 | 7 | 128488996 | 128488996 | | | 128488996 | - | | | NM_001458.5(FLNC):c.4888G>T (p.Ala1630Ser) | 2318 | FLNC | Uncertain significance | 1479430297 | RCV000533967; | N | 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 | 7 | 128488997 | 128488997 | | | NC_000007.13:g.128488997G>T | ClinGen:CA369203506 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4888G>A (p.Ala1630Thr) | 2318 | FLNC | Uncertain significance | 1479430297 | RCV001986695; | N | 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 | 7 | 128488997 | 128488997 | | | 128488997 | - | | | NM_001458.5(FLNC):c.4896C>T (p.Pro1632=) | 2318 | FLNC | Likely benign | 2128937674 | RCV002137152; | N | 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 | 7 | 128489005 | 128489005 | | | 128489005 | - | | | NM_001458.5(FLNC):c.4897A>G (p.Thr1633Ala) | 2318 | FLNC | Uncertain significance | -1 | RCV002595463; | N | 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 | 7 | 128489006 | 128489006 | | | NC_000007.13:g.128489006A>G | - | | | NM_001458.5(FLNC):c.4911C>G (p.Ser1637Arg) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1469272964 | RCV001246304|RCV001587279|RCV002491831|RCV002568650; | N | 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:CN517202|MONDO:MONDO:0013550,MedGen:C327 | 7 | 128489020 | 128489020 | | | 7:g.128489020C>G | - | | | NM_001458.5(FLNC):c.4914G>A (p.Lys1638=) | 2318 | FLNC | Likely benign | 371385321 | RCV000956204|RCV001729759|RCV001729758|RCV002346164; | N | 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:CN517202|MedGen:CN230736 | 7 | 128489023 | 128489023 | | | 7:g.128489023G>A | - | | | NM_001458.5(FLNC):c.4914G>T (p.Lys1638Asn) | 2318 | FLNC | Uncertain significance | -1 | RCV002947726; | N | 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 | 7 | 128489023 | 128489023 | | | NC_000007.13:g.128489023G>T | - | | | NM_001458.5(FLNC):c.4926_4927insACGTCACA (p.Val1643fs) | 2318 | FLNC | Pathogenic/Likely pathogenic | 1402879259 | RCV000547143|RCV001543364|RCV002341490|RCV003324768; | N | 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|EFO:EFO_0000407,Human Phenotype Ontology:HP:000 | 7 | 128489028 | 128489029 | | | 7:g.128489028_128489029insCGTCACAA | ClinGen:CA457848858 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4920_4927+6del | 2318 | FLNC | Likely pathogenic | -1 | RCV003063814; | N | 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 | 7 | 128489028 | 128489041 | | | NC_000007.13:g.128489029_128489042del | - | | | NM_001458.5(FLNC):c.4920C>T (p.Leu1640=) | 2318 | FLNC | Likely benign | 752516424 | RCV001500952|RCV002334550; | N | 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 | 7 | 128489029 | 128489029 | | | 128489029 | - | | | NM_001458.5(FLNC):c.4921G>A (p.Val1641Ile) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 575068215 | RCV000807427|RCV001508594|RCV002336648; | N | 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:614065, Orphanet:63273|MedGen:C3661900|MedGen:CN230736 | 7 | 128489030 | 128489030 | | | 7:g.128489030G>A | - | | | NM_001458.5(FLNC):c.4925C>T (p.Thr1642Ile) | 2318 | FLNC | Uncertain significance | 756074974 | RCV000649175; | N | 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 | 7 | 128489034 | 128489034 | | | 7:g.128489034C>T | ClinGen:CA4475480 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4926A>G (p.Thr1642=) | 2318 | FLNC | Uncertain significance | 1808689032 | RCV001213574; | N | 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 | 7 | 128489035 | 128489035 | | | 7:g.128489035A>G | - | | | NM_001458.5(FLNC):c.4927+2T>G | 2318 | FLNC | Likely pathogenic | 2128937680 | RCV002044311; | N | 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 | 7 | 128489038 | 128489038 | | | 128489038 | - | | | NM_001458.5(FLNC):c.4927+3G>A | 2318 | FLNC | Uncertain significance | 2128937684 | RCV001967790; | N | 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 | 7 | 128489039 | 128489039 | | | 128489039 | - | | | NM_001458.5(FLNC):c.4927+5G>A | 2318 | FLNC | Uncertain significance | 1808689249 | RCV001878531; | N | 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 | 7 | 128489041 | 128489041 | | | 128489041 | - | | | NM_001458.5(FLNC):c.4927+10C>T | 2318 | FLNC | Likely benign | -1 | RCV003039901; | N | 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 | 7 | 128489046 | 128489046 | | | NC_000007.13:g.128489046C>T | - | | | NM_001458.5(FLNC):c.4927+12C>T | 2318 | FLNC | Likely benign | -1 | RCV003078258; | N | 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 | 7 | 128489048 | 128489048 | | | NC_000007.13:g.128489048C>T | - | | | NM_001458.5(FLNC):c.4927+14C>T | 2318 | FLNC | Likely benign | 542105844 | RCV002088229; | N | MONDO:MONDO: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 | 7 | 128489050 | 128489050 | | | 128489050 | - | | | NM_001458.5(FLNC):c.4927+14C>A | 2318 | FLNC | Likely benign | -1 | RCV003075103; | N | 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 | 7 | 128489050 | 128489050 | | | NC_000007.13:g.128489050C>A | - | | | NM_001458.5(FLNC):c.4927+15G>A | 2318 | FLNC | Benign | 200013064 | RCV002127347; | N | 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 | 7 | 128489051 | 128489051 | | | 128489051 | - | | | NM_001458.5(FLNC):c.4928-16T>G | 2318 | FLNC | Likely benign | -1 | RCV002932148; | N | 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 | 7 | 128489219 | 128489219 | | | NC_000007.13:g.128489219T>G | - | | | NM_001458.5(FLNC):c.4928-10C>G | 2318 | FLNC | Likely benign | 2128937745 | RCV002175969; | N | 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 | 7 | 128489225 | 128489225 | | | 128489225 | - | | | NM_001458.5(FLNC):c.4928-9T>C | 2318 | FLNC | Likely benign | 749753725 | RCV002138991; | N | 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 | 7 | 128489226 | 128489226 | | | 128489226 | - | | | NM_001458.5(FLNC):c.4928-7T>C | 2318 | FLNC | Benign | 201957008 | RCV000176925|RCV000551130|RCV001573908; | N | MedGen: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 | 7 | 128489228 | 128489228 | | | 7:g.128489228T>C | ClinGen:CA202173 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4928-4C>G | 2318 | FLNC | Likely benign | 774816687 | RCV001432318; | N | 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 | 7 | 128489231 | 128489231 | | | 7:g.128489231C>G | - | | | NM_001458.5(FLNC):c.4931C>G (p.Ser1644Cys) | 2318 | FLNC | Uncertain significance | 1808699932 | RCV002021738|RCV002337160; | N | 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:CN230736 | 7 | 128489238 | 128489238 | | | 128489238 | - | | | NM_001458.5(FLNC):c.4934T>C (p.Ile1645Thr) | 2318 | FLNC | Uncertain significance | -1 | RCV002624508; | N | 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 | 7 | 128489241 | 128489241 | | | NC_000007.13:g.128489241T>C | - | | | NM_001458.5(FLNC):c.4937G>A (p.Gly1646Glu) | 2318 | FLNC | Uncertain significance | -1 | RCV002675680; | N | 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 | 7 | 128489244 | 128489244 | | | NC_000007.13:g.128489244G>A | - | | | NM_001458.5(FLNC):c.4939G>A (p.Gly1647Ser) | 2318 | FLNC | Uncertain significance | 748563858 | RCV001998923; | N | 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 | 7 | 128489246 | 128489246 | | | 128489246 | - | | | NM_001458.5(FLNC):c.4946del (p.Gly1649fs) | 2318 | FLNC | Pathogenic | 1282619643 | RCV001386350|RCV002341827; | N | 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:CN230736 | 7 | 128489252 | 128489252 | | | 128489251 | - | | | NM_001458.5(FLNC):c.4947C>T (p.Gly1649=) | 2318 | FLNC | Benign/Likely benign | 201069454 | RCV000243782|RCV000526421|RCV001705355|RCV002487123|RCV002338800; | N | MedGen: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:001 | 7 | 128489254 | 128489254 | | | 7:g.128489254C>T | ClinGen:CA4475507 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4951+2T>C | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1585164316 | RCV002010673|RCV003225217|RCV002337120; | N | 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:CN230736 | 7 | 128489260 | 128489260 | | | 128489260 | - | | | NM_001458.5(FLNC):c.4951+3G>A | 2318 | FLNC | Conflicting interpretations of pathogenicity | 377554196 | RCV001205108|RCV001561960; | N | 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 | 7 | 128489261 | 128489261 | | | 7:g.128489261G>A | - | | | NM_001458.5(FLNC):c.4951+7G>A | 2318 | FLNC | Likely benign | 370501464 | RCV000649230; | N | 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 | 7 | 128489265 | 128489265 | | | NC_000007.13:g.128489265G>A | ClinGen:CA4475509 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4951+10C>T | 2318 | FLNC | Likely benign | 778809639 | RCV000649203; | N | 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 | 7 | 128489268 | 128489268 | | | NC_000007.13:g.128489268C>T | ClinGen:CA4475510 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4951+16C>G | 2318 | FLNC | Likely benign | -1 | RCV002858641; | N | 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 | 7 | 128489274 | 128489274 | | | NC_000007.13:g.128489274C>G | - | | | NM_001458.5(FLNC):c.4951+19C>A | 2318 | FLNC | Likely benign | -1 | RCV002790254; | N | 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 | 7 | 128489277 | 128489277 | | | NC_000007.13:g.128489277C>A | - | | | NM_001458.5(FLNC):c.4952-20C>T | 2318 | FLNC | Likely benign | 1199089488 | RCV002107002; | N | 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 | 7 | 128489365 | 128489365 | | | 128489365 | - | | | NM_001458.5(FLNC):c.4952-10C>T | 2318 | FLNC | Benign/Likely benign | 142611699 | RCV000538995|RCV001704478; | N | 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 | 7 | 128489375 | 128489375 | | | 7:g.128489375C>T | ClinGen:CA4475526 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4952-9G>T | 2318 | FLNC | Likely benign | 747821376 | RCV000649260|RCV001546668; | N | 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:CN517202 | 7 | 128489376 | 128489376 | | | 7:g.128489376G>T | ClinGen:CA4475528 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4952-9G>A | 2318 | FLNC | Likely benign | 747821376 | RCV001347123; | N | 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 | 7 | 128489376 | 128489376 | | | 128489376 | - | | | NM_001458.5(FLNC):c.4952-9G>C | 2318 | FLNC | Likely benign | 747821376 | RCV002141848; | N | 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 | 7 | 128489376 | 128489376 | | | 128489376 | - | | | NM_001458.5(FLNC):c.4952-7A>G | 2318 | FLNC | Likely benign | 746914067 | RCV002186599; | N | 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 | 7 | 128489378 | 128489378 | | | 128489378 | - | | | NM_001458.5(FLNC):c.4952-7A>T | 2318 | FLNC | Likely benign | -1 | RCV002866562; | N | 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 | 7 | 128489378 | 128489378 | | | NC_000007.13:g.128489378A>T | - | | | NM_001458.5(FLNC):c.4952-2A>T | 2318 | FLNC | Likely pathogenic | 774945928 | RCV000690838|RCV002334285|RCV003227829; | N | 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:CN230736|MedGen:CN517202 | 7 | 128489383 | 128489383 | | | NC_000007.13:g.128489383A>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4952G>A (p.Gly1651Asp) | 2318 | FLNC | Uncertain significance | 762493974 | RCV000726915|RCV001215135|RCV002341149; | N | MedGen: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 | 7 | 128489385 | 128489385 | | | 7:g.128489385G>A | ClinGen:CA4475530 | CN169374 not specified; | | NM_001458.5(FLNC):c.4953T>G (p.Gly1651=) | 2318 | FLNC | Likely benign | -1 | RCV003025511; | N | 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 | 7 | 128489386 | 128489386 | | | | - | | | NM_001458.5(FLNC):c.4956C>A (p.Ala1652=) | 2318 | FLNC | Likely benign | -1 | RCV003024172; | N | 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 | 7 | 128489389 | 128489389 | | | | - | | | NM_001458.5(FLNC):c.4959C>A (p.Cys1653Ter) | 2318 | FLNC | Pathogenic | -1 | RCV003034393; | N | 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 | 7 | 128489392 | 128489392 | | | NC_000007.13:g.128489392C>A | - | | | NM_001458.5(FLNC):c.4969C>T (p.Arg1657Ter) | 2318 | FLNC | Pathogenic/Likely pathogenic | 1563000044 | RCV000760793|RCV000809449|RCV003362932; | N | MedGen: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:CN230736 | 7 | 128489402 | 128489402 | | | NC_000007.13:g.128489402C>T | - | | | NM_001458.5(FLNC):c.4969C>G (p.Arg1657Gly) | 2318 | FLNC | Uncertain significance | 1563000044 | RCV001309961|RCV002471083|RCV002508307; | N | 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:C4310749,OMIM:617047 | 7 | 128489402 | 128489402 | | | 128489402 | - | | | NM_001458.5(FLNC):c.4970G>A (p.Arg1657Gln) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 374294752 | RCV000527473|RCV002341420|RCV003144355; | N | 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:CN230736|MedGen:CN517202 | 7 | 128489403 | 128489403 | | | 7:g.128489403G>A | ClinGen:CA4475534 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4977G>C (p.Gln1659His) | 2318 | FLNC | Uncertain significance | 1297786780 | RCV000808094; | N | 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 | 7 | 128489410 | 128489410 | | | 7:g.128489410G>C | - | | | NM_001458.5(FLNC):c.4979T>C (p.Ile1660Thr) | 2318 | FLNC | Likely benign | 750254727 | RCV001315930; | N | 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 | 7 | 128489412 | 128489412 | | | 128489412 | - | | | NM_001458.5(FLNC):c.4981G>A (p.Gly1661Arg) | 2318 | FLNC | Uncertain significance | 2128937796 | RCV001892802; | N | 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 | 7 | 128489414 | 128489414 | | | 128489414 | - | | | NM_001458.5(FLNC):c.4984C>T (p.Gln1662Ter) | 2318 | FLNC | Pathogenic | 1808708673 | RCV001056776; | N | 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 | 7 | 128489417 | 128489417 | | | 7:g.128489417C>T | - | | | NM_001458.5(FLNC):c.4991C>T (p.Thr1664Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 780829334 | RCV000585445|RCV000649125|RCV001262958|RCV002350109; | N | 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|MONDO:MONDO:0014883,MedGen:C431 | 7 | 128489424 | 128489424 | | | 7:g.128489424C>T | ClinGen:CA4475536 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.4992G>A (p.Thr1664=) | 2318 | FLNC | Likely benign | 766665525 | RCV002099385; | N | 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 | 7 | 128489425 | 128489425 | | | 128489425 | - | | | NM_001458.5(FLNC):c.4995G>A (p.Val1665=) | 2318 | FLNC | Likely benign | 368212293 | RCV002171075; | N | 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 | 7 | 128489428 | 128489428 | | | 128489428 | - | | | NM_001458.5(FLNC):c.5000C>T (p.Thr1667Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 753945728 | RCV000540351|RCV002341421; | N | 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:CN230736 | 7 | 128489433 | 128489433 | | | 7:g.128489433C>T | ClinGen:CA4475538 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5001G>A (p.Thr1667=) | 2318 | FLNC | Likely benign | 370711488 | RCV000908264|RCV002336892; | N | 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 | 7 | 128489434 | 128489434 | | | 7:g.128489434G>A | - | | | NM_001458.5(FLNC):c.5001G>T (p.Thr1667=) | 2318 | FLNC | Likely benign | 370711488 | RCV002122608|RCV002337294; | N | 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 | 7 | 128489434 | 128489434 | | | 128489434 | - | | | NM_001458.5(FLNC):c.5011A>G (p.Lys1671Glu) | 2318 | FLNC | Uncertain significance | 1563000088 | RCV000695301; | N | 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 | 7 | 128489444 | 128489444 | | | NC_000007.13:g.128489444A>G | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5013G>T (p.Lys1671Asn) | 2318 | FLNC | Uncertain significance | -1 | RCV002619279; | N | 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 | 7 | 128489446 | 128489446 | | | NC_000007.13:g.128489446G>T | - | | | NM_001458.5(FLNC):c.5019C>T (p.Ala1673=) | 2318 | FLNC | Likely benign | 747436514 | RCV001487181|RCV002336928; | N | 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:CN230736 | 7 | 128489452 | 128489452 | | | 7:g.128489452C>T | - | | | NM_001458.5(FLNC):c.5020G>A (p.Gly1674Ser) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 374124083 | RCV000552991|RCV000709882|RCV000764684|RCV001584313|RCV002350340; | N | 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:MONDO:0012289,MedGen:C1836050,OMIM:609524 | 7 | 128489453 | 128489453 | | | 7:g.128489453G>A | ClinGen:CA4475545 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5021_5023del (p.Gly1674del) | 2318 | FLNC | Uncertain significance | -1 | RCV003014576; | N | 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 | 7 | 128489453 | 128489455 | | | NC_000007.13:g.128489454_128489456del | - | | | NM_001458.5(FLNC):c.5022T>G (p.Gly1674=) | 2318 | FLNC | Likely benign | 1282017206 | RCV001411568; | N | MONDO:MONDO: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 | 7 | 128489455 | 128489455 | | | 128489455 | - | | | NM_001458.5(FLNC):c.5026G>A (p.Gly1676Arg) | 2318 | FLNC | Uncertain significance | 1585164542 | RCV000797262; | N | 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 | 7 | 128489459 | 128489459 | | | 7:g.128489459G>A | - | | | NM_001458.5(FLNC):c.5027G>A (p.Gly1676Glu) | 2318 | FLNC | Uncertain significance | -1 | RCV002810725; | N | 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 | 7 | 128489460 | 128489460 | | | NC_000007.13:g.128489460G>A | - | | | NM_001458.5(FLNC):c.5029A>C (p.Lys1677Gln) | 2318 | FLNC | Uncertain significance | 1554400214 | RCV000533419; | N | 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 | 7 | 128489462 | 128489462 | | | 7:g.128489462A>C | ClinGen:CA369204024 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5031G>A (p.Lys1677=) | 2318 | FLNC | Likely benign | 534356967 | RCV001485893; | N | 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 | 7 | 128489464 | 128489464 | | | 128489464 | - | | | NM_001458.5(FLNC):c.5036C>A (p.Thr1679Lys) | 2318 | FLNC | Uncertain significance | 1364205864 | RCV001209920; | N | 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 | 7 | 128489469 | 128489469 | | | 7:g.128489469C>A | - | | | NM_001458.5(FLNC):c.5039G>C (p.Cys1680Ser) | 2318 | FLNC | Uncertain significance | 552930634 | RCV001351129; | N | 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 | 7 | 128489472 | 128489472 | | | 128489472 | - | | | NM_001458.5(FLNC):c.5042C>G (p.Thr1681Arg) | 2318 | FLNC | Benign/Likely benign | 193159707 | RCV000177456|RCV000546030|RCV001721115|RCV002345617; | N | MedGen: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:CN230736 | 7 | 128489475 | 128489475 | | | 7:g.128489475C>G | ClinGen:CA202476 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5042C>T (p.Thr1681Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 193159707 | RCV001873002|RCV002343941|RCV003395251; | N | 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| | 7 | 128489475 | 128489475 | | | 128489475 | - | | | NM_001458.5(FLNC):c.5043G>A (p.Thr1681=) | 2318 | FLNC | Likely benign | 200405579 | RCV001453361|RCV002350914|RCV002476772; | N | 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:0012289,MedGen:C183 | 7 | 128489476 | 128489476 | | | 128489476 | - | | | NM_001458.5(FLNC):c.5044G>C (p.Val1682Leu) | 2318 | FLNC | Uncertain significance | -1 | RCV002819117; | N | 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 | 7 | 128489477 | 128489477 | | | NC_000007.13:g.128489477G>C | - | | | NM_001458.5(FLNC):c.5051C>T (p.Thr1684Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1294213097 | RCV000813779|RCV002336681|RCV002470990; | N | 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|MONDO:MONDO:0014883,MedGen:C431 | 7 | 128489484 | 128489484 | | | 7:g.128489484C>T | - | | | NM_001458.5(FLNC):c.5054C>T (p.Pro1685Leu) | 2318 | FLNC | Uncertain significance | 1385628312 | RCV001237320|RCV002348804; | N | 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:CN230736 | 7 | 128489487 | 128489487 | | | 7:g.128489487C>T | - | | | NM_001458.5(FLNC):c.5055G>A (p.Pro1685=) | 2318 | FLNC | Likely benign | 57797061 | RCV000427923|RCV000823867; | N | 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 | 7 | 128489488 | 128489488 | | | 7:g.128489488G>A | ClinGen:CA4475551 | CN169374 not specified; | | NM_001458.5(FLNC):c.5056G>T (p.Asp1686Tyr) | 2318 | FLNC | Uncertain significance | -1 | RCV002305369; | N | 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 | 7 | 128489489 | 128489489 | | | 128489489 | - | | | NM_001458.5(FLNC):c.5059G>A (p.Gly1687Arg) | 2318 | FLNC | Uncertain significance | 1808713041 | RCV001231104; | N | 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 | 7 | 128489492 | 128489492 | | | 7:g.128489492G>A | - | | | NM_001458.5(FLNC):c.5064_5084dup (p.Leu1690_Glu1696dup) | 2318 | FLNC | Uncertain significance | 1808713133 | RCV001323380; | N | 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 | 7 | 128489496 | 128489497 | | | 128489496 | - | | | NM_001458.5(FLNC):c.5068C>G (p.Leu1690Val) | 2318 | FLNC | Likely benign | -1 | RCV002607612; | N | 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 | 7 | 128489501 | 128489501 | | | NC_000007.13:g.128489501C>G | - | | | NM_001458.5(FLNC):c.5070C>T (p.Leu1690=) | 2318 | FLNC | Benign/Likely benign | 202027738 | RCV000555864|RCV001580494|RCV002339061|RCV002506056; | N | 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:CN230736|MONDO:MONDO:001 | 7 | 128489503 | 128489503 | | | 7:g.128489503C>T | ClinGen:CA4475553 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5071G>A (p.Asp1691Asn) | 2318 | FLNC | Uncertain significance | 777061037 | RCV000691625|RCV002275117|RCV002334294|RCV002493176; | N | 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|MedGen:C3661900|MedGen:CN230736|MONDO:MONDO:001 | 7 | 128489504 | 128489504 | | | 7:g.128489504G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5088G>C (p.Glu1696Asp) | 2318 | FLNC | Uncertain significance | 1563000172 | RCV001923310; | N | 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 | 7 | 128489521 | 128489521 | | | 128489521 | - | | | NM_001458.5(FLNC):c.5088G>A (p.Glu1696=) | 2318 | FLNC | Likely benign | 1563000172 | RCV002198757|RCV002337398; | N | 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 | 7 | 128489521 | 128489521 | | | 128489521 | - | | | NM_001458.5(FLNC):c.5097C>T (p.Asp1699=) | 2318 | FLNC | Likely benign | 1246194093 | RCV000553212|RCV002341422; | N | 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:CN230736 | 7 | 128489530 | 128489530 | | | 7:g.128489530C>T | ClinGen:CA457848952 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5098G>A (p.Gly1700Ser) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1264382469 | RCV001554970|RCV001882636; | N | 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 | 7 | 128489531 | 128489531 | | | 128489531 | - | | | NM_001458.5(FLNC):c.5110A>G (p.Ile1704Val) | 2318 | FLNC | Uncertain significance | 2128937827 | RCV001957915; | N | 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 | 7 | 128489543 | 128489543 | | | 128489543 | - | | | NM_001458.5(FLNC):c.5111T>C (p.Ile1704Thr) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 752850659 | RCV001228218|RCV002339621; | N | 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:CN230736 | 7 | 128489544 | 128489544 | | | 7:g.128489544T>C | - | | | NM_001458.5(FLNC):c.5114A>T (p.Tyr1705Phe) | 2318 | FLNC | Uncertain significance | -1 | RCV002662927; | N | 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 | 7 | 128489547 | 128489547 | | | NC_000007.13:g.128489547A>T | - | | | NM_001458.5(FLNC):c.5117A>G (p.Tyr1706Cys) | 2318 | FLNC | Uncertain significance | -1 | RCV002923593; | N | 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 | 7 | 128489550 | 128489550 | | | NC_000007.13:g.128489550A>G | - | | | NM_001458.5(FLNC):c.5123C>T (p.Ala1708Val) | 2318 | FLNC | Uncertain significance | 1011817473 | RCV000529347; | N | 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 | 7 | 128489556 | 128489556 | | | 7:g.128489556C>T | ClinGen:CA166185497 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5124G>A (p.Ala1708=) | 2318 | FLNC | Likely benign | 764707313 | RCV001707848|RCV002066906|RCV002334030; | N | MedGen: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:CN230736 | 7 | 128489557 | 128489557 | | | 7:g.128489557G>A | ClinGen:CA4475559 | CN169374 not specified; | | NM_001458.5(FLNC):c.5127C>T (p.Pro1709=) | 2318 | FLNC | Benign/Likely benign | 540345016 | RCV001091489|RCV001523748|RCV002339394; | N | MedGen: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:CN230736 | 7 | 128489560 | 128489560 | | | 7:g.128489560C>T | - | | | NM_001458.5(FLNC):c.5128G>A (p.Glu1710Lys) | 2318 | FLNC | Uncertain significance | 200077114 | RCV000688028|RCV000764685|RCV002334266|RCV003317339; | N | 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:C4310749,OMIM:617047 | 7 | 128489561 | 128489561 | | | NC_000007.13:g.128489561G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5132C>T (p.Pro1711Leu) | 2318 | FLNC | Uncertain significance | 748879903 | RCV000690012|RCV000788521|RCV002493170|RCV002343452; | N | 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:CN517202|MONDO:MONDO:0013550,MedGen:C327 | 7 | 128489565 | 128489565 | | | 7:g.128489565C>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5133G>A (p.Pro1711=) | 2318 | FLNC | Likely benign | 754646406 | RCV000926037|RCV001550679; | N | 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:614065, Orphanet:63273|MedGen:CN517202 | 7 | 128489566 | 128489566 | | | 7:g.128489566G>A | - | | | NM_001458.5(FLNC):c.5135G>C (p.Gly1712Ala) | 2318 | FLNC | Uncertain significance | 2128937832 | RCV001761125|RCV002300579; | N | 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 | 7 | 128489568 | 128489568 | | | 128489568 | - | | | NM_001458.5(FLNC):c.5142C>T (p.Tyr1714=) | 2318 | FLNC | Likely benign | 573362121 | RCV001503202|RCV001581162; | N | MONDO:MONDO: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 | 7 | 128489575 | 128489575 | | | 128489575 | - | | | NM_001458.5(FLNC):c.5143G>A (p.Val1715Ile) | 2318 | FLNC | Likely benign | 200178370 | RCV000649246|RCV001539535|RCV002334181; | N | 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:C3661900|MedGen:CN230736 | 7 | 128489576 | 128489576 | | | 7:g.128489576G>A | ClinGen:CA4475567 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5149A>T (p.Thr1717Ser) | 2318 | FLNC | Uncertain significance | -1 | RCV002630786; | N | 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 | 7 | 128489582 | 128489582 | | | NC_000007.13:g.128489582A>T | - | | | NM_001458.5(FLNC):c.5155C>T (p.Arg1719Cys) | 2318 | FLNC | Uncertain significance | 773260834 | RCV000546251|RCV001755875|RCV003159897; | N | 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:CN517202|MedGen:CN230736 | 7 | 128489588 | 128489588 | | | 7:g.128489588C>T | ClinGen:CA4475568 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5156G>A (p.Arg1719His) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 746777092 | RCV001228779|RCV002339624|RCV002466644; | N | 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:CN230736|MONDO:MONDO:0014883,MedGen:C431 | 7 | 128489589 | 128489589 | | | 7:g.128489589G>A | - | | | NM_001458.5(FLNC):c.5157C>T (p.Arg1719=) | 2318 | FLNC | Likely benign | 770784518 | RCV000950512; | N | 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 | 7 | 128489590 | 128489590 | | | 7:g.128489590C>T | - | | | NM_001458.5(FLNC):c.5160C>T (p.Phe1720=) | 2318 | FLNC | Likely benign | 562101000 | RCV001486597|RCV002334178; | N | 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:CN230736 | 7 | 128489593 | 128489593 | | | NC_000007.13:g.128489593C>T | ClinGen:CA4475571 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5160C>A (p.Phe1720Leu) | 2318 | FLNC | Uncertain significance | -1 | RCV003080403; | N | 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 | 7 | 128489593 | 128489593 | | | NC_000007.13:g.128489593C>A | - | | | NM_001458.5(FLNC):c.5165del (p.Gly1722fs) | 2318 | FLNC | Pathogenic/Likely pathogenic | 1554400242 | RCV000649119|RCV002255493; | N | 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:CN517202 | 7 | 128489594 | 128489594 | | | 7:g.128489594_128489594del | ClinGen:CA658797011 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5161G>A (p.Gly1721Arg) | 2318 | FLNC | Uncertain significance | 759786433 | RCV001039194|RCV001772220; | N | 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|MedGen:CN517202 | 7 | 128489594 | 128489594 | | | 7:g.128489594G>A | - | | | NM_001458.5(FLNC):c.5162G>A (p.Gly1721Glu) | 2318 | FLNC | Uncertain significance | 1181189567 | RCV001040149|RCV001593203; | N | 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|MedGen:CN517202 | 7 | 128489595 | 128489595 | | | 7:g.128489595G>A | - | | | NM_001458.5(FLNC):c.5164G>A (p.Gly1722Ser) | 2318 | FLNC | Uncertain significance | 765591354 | RCV001339880; | N | 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 | 7 | 128489597 | 128489597 | | | 128489597 | - | | | NM_001458.5(FLNC):c.5165G>C (p.Gly1722Ala) | 2318 | FLNC | Uncertain significance | 775405275 | RCV000799713|RCV002334510|RCV002487683; | N | 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|MONDO:MONDO:0012289,MedGen:C183 | 7 | 128489598 | 128489598 | | | 7:g.128489598G>C | - | | | NM_001458.5(FLNC):c.5165G>A (p.Gly1722Asp) | 2318 | FLNC | Uncertain significance | -1 | RCV003076305|RCV003274184; | N | 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:CN230736 | 7 | 128489598 | 128489598 | | | NC_000007.13:g.128489598G>A | - | | | NM_001458.5(FLNC):c.5170C>T (p.His1724Tyr) | 2318 | FLNC | Uncertain significance | 2128937841 | RCV002049061; | N | 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 | 7 | 128489603 | 128489603 | | | 128489603 | - | | | NM_001458.5(FLNC):c.5176C>T (p.Pro1726Ser) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 529240463 | RCV001881283|RCV002334792; | N | 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:614065, Orphanet:63273|MedGen:CN230736 | 7 | 128489609 | 128489609 | | | 128489609 | - | | | NM_001458.5(FLNC):c.5179A>G (p.Asn1727Asp) | 2318 | FLNC | Uncertain significance | 2128937845 | RCV002038928; | N | 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 | 7 | 128489612 | 128489612 | | | 128489612 | - | | | NM_001458.5(FLNC):c.5181C>A (p.Asn1727Lys) | 2318 | FLNC | Uncertain significance | 764500516 | RCV000649177; | N | 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 | 7 | 128489614 | 128489614 | | | NC_000007.13:g.128489614C>A | ClinGen:CA4475576 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5182A>G (p.Ser1728Gly) | 2318 | FLNC | Uncertain significance | 1554400248 | RCV000558786; | N | 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 | 7 | 128489615 | 128489615 | | | 7:g.128489615A>G | ClinGen:CA369204368 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5187C>T (p.Pro1729=) | 2318 | FLNC | Likely benign | 2128937847 | RCV002109602; | N | 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 | 7 | 128489620 | 128489620 | | | 128489620 | - | | | NM_001458.5(FLNC):c.5191C>T (p.His1731Tyr) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1255727604 | RCV001208681|RCV002466632|RCV003163582; | N | 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:C4310749,OMIM:617047 | 7 | 128489624 | 128489624 | | | 7:g.128489624C>T | - | | | NM_001458.5(FLNC):c.5193C>T (p.His1731=) | 2318 | FLNC | Likely benign | 752034193 | RCV002087667; | N | MONDO:MONDO: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 | 7 | 128489626 | 128489626 | | | 128489626 | - | | | NM_001458.5(FLNC):c.5194G>A (p.Val1732Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 374848954 | RCV000797781|RCV002272359|RCV002334495|RCV003336191; | N | MONDO:MONDO: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:000 | 7 | 128489627 | 128489627 | | | 7:g.128489627G>A | - | | | NM_001458.5(FLNC):c.5194G>C (p.Val1732Leu) | 2318 | FLNC | Uncertain significance | -1 | RCV002296236; | N | MONDO:MONDO: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 | 7 | 128489627 | 128489627 | | | 128489627 | - | | | NM_001458.5(FLNC):c.5199+1G>C | 2318 | FLNC | Likely pathogenic | 1465588989 | RCV001068247; | N | 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 | 7 | 128489633 | 128489633 | | | 7:g.128489633G>C | - | | | NM_001458.5(FLNC):c.5199+1G>T | 2318 | FLNC | Likely pathogenic | 1465588989 | RCV001378838|RCV003365377; | N | 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:CN230736 | 7 | 128489633 | 128489633 | | | 128489633 | - | | | NM_001458.5(FLNC):c.5199+18A>G | 2318 | FLNC | Likely benign | 2128937856 | RCV002166091; | N | 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 | 7 | 128489650 | 128489650 | | | 128489650 | - | | | NM_001458.5(FLNC):c.5200-20C>T | 2318 | FLNC | Likely benign | -1 | RCV003061837; | N | 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 | 7 | 128490010 | 128490010 | | | NC_000007.13:g.128490010C>T | - | | | NM_001458.5(FLNC):c.5200-18C>T | 2318 | FLNC | Benign/Likely benign | 372184893 | RCV000249135|RCV001797074|RCV002058055; | N | MedGen: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 | 7 | 128490012 | 128490012 | | | NC_000007.13:g.128490012C>T | ClinGen:CA4475600 | CN169374 not specified; | | NM_001458.5(FLNC):c.5200-18C>G | 2318 | FLNC | Uncertain significance | -1 | RCV003007877; | N | 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 | 7 | 128490012 | 128490012 | | | NC_000007.13:g.128490012C>G | - | | | NM_001458.5(FLNC):c.5200-17G>A | 2318 | FLNC | Likely benign | 377225258 | RCV002114915; | N | 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 | 7 | 128490013 | 128490013 | | | 128490013 | - | | | NM_001458.5(FLNC):c.5200-10G>A | 2318 | FLNC | Likely benign | 1554400346 | RCV000649213; | N | 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 | 7 | 128490020 | 128490020 | | | 7:g.128490020G>A | ClinGen:CA658797012 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5200-9C>T | 2318 | FLNC | Likely benign | 777290470 | RCV000649189; | N | 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 | 7 | 128490021 | 128490021 | | | NC_000007.13:g.128490021C>T | ClinGen:CA4475605 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5200-8C>T | 2318 | FLNC | Likely benign | 1478656876 | RCV000535264; | N | 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 | 7 | 128490022 | 128490022 | | | NC_000007.13:g.128490022C>T | ClinGen:CA577746913 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5200G>A (p.Ala1734Thr) | 2318 | FLNC | Uncertain significance | 1359496906 | RCV002042698; | N | 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 | 7 | 128490030 | 128490030 | | | 128490030 | - | | | NM_001458.5(FLNC):c.5201C>T (p.Ala1734Val) | 2318 | FLNC | Uncertain significance | 751149867 | RCV001941183; | N | 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 | 7 | 128490031 | 128490031 | | | 128490031 | - | | | NM_001458.5(FLNC):c.5202G>A (p.Ala1734=) | 2318 | FLNC | Likely benign | 757233206 | RCV000543331|RCV002341423|RCV002060347; | N | 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:C3661900 | 7 | 128490032 | 128490032 | | | 7:g.128490032G>A | ClinGen:CA4475607 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5205T>G (p.Cys1735Trp) | 2318 | FLNC | Uncertain significance | -1 | RCV002690996; | N | 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 | 7 | 128490035 | 128490035 | | | NC_000007.13:g.128490035T>G | - | | | NM_001458.5(FLNC):c.5208C>A (p.Asp1736Glu) | 2318 | FLNC | Uncertain significance | 1291689149 | RCV000535487|RCV000786135|RCV002350341; | N | 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:CN517202|MedGen:CN230736 | 7 | 128490038 | 128490038 | | | 7:g.128490038C>A | ClinGen:CA369204491 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5212C>T (p.Leu1738=) | 2318 | FLNC | Likely benign | 1308173261 | RCV000920005|RCV002336910; | N | 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 | 7 | 128490042 | 128490042 | | | 7:g.128490042C>T | - | | | NM_001458.5(FLNC):c.5216C>T (p.Pro1739Leu) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 745650222 | RCV000548109|RCV001755876|RCV002350342|RCV002483475; | N | 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:CN517202|MedGen:CN230736|MONDO:MONDO:001 | 7 | 128490046 | 128490046 | | | 7:g.128490046C>T | ClinGen:CA4475609 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5216C>A (p.Pro1739Gln) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 745650222 | RCV000803143|RCV003456434; | N | 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:C3661900 | 7 | 128490046 | 128490046 | | | 7:g.128490046C>A | - | | | NM_001458.5(FLNC):c.5217G>T (p.Pro1739=) | 2318 | FLNC | Likely benign | 769643482 | RCV001412723; | N | 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 | 7 | 128490047 | 128490047 | | | 7:g.128490047G>T | - | | | NM_001458.5(FLNC):c.5217G>A (p.Pro1739=) | 2318 | FLNC | Likely benign | 769643482 | RCV001479102|RCV002350566; | N | 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 | 7 | 128490047 | 128490047 | | | 128490047 | - | | | NM_001458.5(FLNC):c.5217G>C (p.Pro1739=) | 2318 | FLNC | Likely benign | 769643482 | RCV002195925; | N | 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 | 7 | 128490047 | 128490047 | | | 128490047 | - | | | NM_001458.5(FLNC):c.5220C>T (p.His1740=) | 2318 | FLNC | Likely benign | 369739871 | RCV000920637|RCV001537034|RCV002346090; | N | 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:C3661900|MedGen:CN230736 | 7 | 128490050 | 128490050 | | | 7:g.128490050C>T | - | | | NM_001458.5(FLNC):c.5221G>A (p.Glu1741Lys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 200792813 | RCV000528792|RCV001545254|RCV002341425|RCV003224330; | N | 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:CN517202|MedGen:CN230736|MONDO:MONDO:001 | 7 | 128490051 | 128490051 | | | 7:g.128490051G>A | ClinGen:CA4475613 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5224G>A (p.Glu1742Lys) | 2318 | FLNC | Uncertain significance | 774458113 | RCV002021731; | N | 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 | 7 | 128490054 | 128490054 | | | 128490054 | - | | | NM_001458.5(FLNC):c.5229G>A (p.Glu1743=) | 2318 | FLNC | Likely benign | 1245475286 | RCV002168903; | N | 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 | 7 | 128490059 | 128490059 | | | 128490059 | - | | | NM_001458.5(FLNC):c.5231C>T (p.Pro1744Leu) | 2318 | FLNC | Uncertain significance | -1 | RCV002681720; | N | 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 | 7 | 128490061 | 128490061 | | | NC_000007.13:g.128490061C>T | - | | | NM_001458.5(FLNC):c.5233T>A (p.Ser1745Thr) | 2318 | FLNC | Uncertain significance | -1 | RCV002792135; | N | 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 | 7 | 128490063 | 128490063 | | | NC_000007.13:g.128490063T>A | - | | | NM_001458.5(FLNC):c.5235T>C (p.Ser1745=) | 2318 | FLNC | Likely benign | 1245426549 | RCV001414366; | N | 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 | 7 | 128490065 | 128490065 | | | 128490065 | - | | | NM_001458.5(FLNC):c.5238A>C (p.Glu1746Asp) | 2318 | FLNC | Uncertain significance | 1563000552 | RCV000706534; | N | 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 | 7 | 128490068 | 128490068 | | | 7:g.128490068A>C | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5239G>A (p.Val1747Met) | 2318 | FLNC | Uncertain significance | 764373507 | RCV000536684; | N | 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 | 7 | 128490069 | 128490069 | | | NC_000007.13:g.128490069G>A | ClinGen:CA166186164 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5241G>C (p.Val1747=) | 2318 | FLNC | Likely benign | 1199231657 | RCV002150346; | N | 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 | 7 | 128490071 | 128490071 | | | 128490071 | - | | | NM_001458.5(FLNC):c.5242C>T (p.Pro1748Ser) | 2318 | FLNC | Uncertain significance | 1380018208 | RCV001338887|RCV002499670; | N | 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:MONDO:0012289,MedGen:C1836050,OMIM:609524 | 7 | 128490072 | 128490072 | | | 128490072 | - | | | NM_001458.5(FLNC):c.5251C>T (p.Arg1751Cys) | 2318 | FLNC | Uncertain significance | 1585165163 | RCV000799109|RCV003330958; | N | 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 | 7 | 128490081 | 128490081 | | | 7:g.128490081C>T | - | | | NM_001458.5(FLNC):c.5252G>A (p.Arg1751His) | 2318 | FLNC | Likely benign | -1 | RCV002344357|RCV003096671; | N | MedGen: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:CN239310 | 7 | 128490082 | 128490082 | | | 128490082 | - | | | NM_001458.5(FLNC):c.5257C>A (p.Pro1753Thr) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 573399358 | RCV000818866|RCV002305544; | N | 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 | 7 | 128490087 | 128490087 | | | 7:g.128490087C>A | - | | | NM_001458.5(FLNC):c.5261A>G (p.Tyr1754Cys) | 2318 | FLNC | Uncertain significance | 1330454582 | RCV000800866|RCV001785726; | N | 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:CN517202 | 7 | 128490091 | 128490091 | | | 7:g.128490091A>G | - | | | NM_001458.5(FLNC):c.5262C>T (p.Tyr1754=) | 2318 | FLNC | Benign/Likely benign | 369165766 | RCV000560150|RCV001697313|RCV002341424|RCV003330789; | N | 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:CN230736|MedGen:CN169374 | 7 | 128490092 | 128490092 | | | 7:g.128490092C>T | ClinGen:CA4475618 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5263G>A (p.Ala1755Thr) | 2318 | FLNC | Likely benign | 368768007 | RCV001305002; | N | 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 | 7 | 128490093 | 128490093 | | | 128490093 | - | | | NM_001458.5(FLNC):c.5264C>G (p.Ala1755Gly) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1286156977 | RCV000812823|RCV002336679; | N | 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 | 7 | 128490094 | 128490094 | | | 7:g.128490094C>G | - | | | NM_001458.5(FLNC):c.5265TCC[1] (p.Pro1757del) | 2318 | FLNC | Uncertain significance | 1808740121 | RCV001050670; | N | 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 | 7 | 128490094 | 128490096 | | | 7:g.128490094_128490096del | - | | | NM_001458.5(FLNC):c.5264C>T (p.Ala1755Val) | 2318 | FLNC | Uncertain significance | 1286156977 | RCV001897844; | N | 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 | 7 | 128490094 | 128490094 | | | 128490094 | - | | | NM_001458.5(FLNC):c.5268T>A (p.Pro1756=) | 2318 | FLNC | Likely benign | 1694081600 | RCV001481102; | N | 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 | 7 | 128490098 | 128490098 | | | 128490098 | - | | | NM_001458.5(FLNC):c.5272C>T (p.Arg1758Trp) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 369187211 | RCV000691370|RCV000764686|RCV001547864|RCV002343461|RCV003150332; | N | 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:C4310749,OMIM:617047 | 7 | 128490102 | 128490102 | | | NC_000007.13:g.128490102C>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5272C>G (p.Arg1758Gly) | 2318 | FLNC | Uncertain significance | 369187211 | RCV001228648; | N | 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 | 7 | 128490102 | 128490102 | | | 7:g.128490102C>G | - | | | NM_001458.5(FLNC):c.5273G>A (p.Arg1758Gln) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 573984029 | RCV001729781|RCV001040709|RCV002348350; | N | 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:CN230736 | 7 | 128490103 | 128490103 | | | 7:g.128490103G>A | - | | | NM_001458.5(FLNC):c.5274G>A (p.Arg1758=) | 2318 | FLNC | Likely benign | 1053977049 | RCV001427185; | N | 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 | 7 | 128490104 | 128490104 | | | 128490104 | - | | | NM_001458.5(FLNC):c.5275C>T (p.Pro1759Ser) | 2318 | FLNC | Uncertain significance | 892618706 | RCV000704494|RCV002343553; | N | 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:CN230736 | 7 | 128490105 | 128490105 | | | NC_000007.13:g.128490105C>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5277C>A (p.Pro1759=) | 2318 | FLNC | Likely benign | 763698034 | RCV000549456; | N | 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 | 7 | 128490107 | 128490107 | | | NC_000007.13:g.128490107C>A | ClinGen:CA457582469 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5277C>T (p.Pro1759=) | 2318 | FLNC | Likely benign | 763698034 | RCV000934769|RCV001731982|RCV002346116; | N | 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:CN517202|MedGen:CN230736 | 7 | 128490107 | 128490107 | | | 7:g.128490107C>T | - | | | NM_001458.5(FLNC):c.5278G>A (p.Gly1760Ser) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 150986092 | RCV000525434|RCV001312149|RCV002350343|RCV002491080; | N | 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:C3661900|MedGen:CN230736|MONDO:MONDO:001 | 7 | 128490108 | 128490108 | | | 7:g.128490108G>A | ClinGen:CA4475624 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5279G>A (p.Gly1760Asp) | 2318 | FLNC | Uncertain significance | 1808741985 | RCV001231296; | N | 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 | 7 | 128490109 | 128490109 | | | 7:g.128490109G>A | - | | | NM_001458.5(FLNC):c.5280C>T (p.Gly1760=) | 2318 | FLNC | Benign/Likely benign | 563285308 | RCV001035344|RCV003160204; | N | 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 | 7 | 128490110 | 128490110 | | | 7:g.128490110C>T | - | | | NM_001458.5(FLNC):c.5281G>A (p.Ala1761Thr) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 376023896 | RCV000542736|RCV001796115|RCV002350344; | N | 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:CN517202|MedGen:CN230736 | 7 | 128490111 | 128490111 | | | 7:g.128490111G>A | ClinGen:CA4475627 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5283C>T (p.Ala1761=) | 2318 | FLNC | Likely benign | 1420967776 | RCV002131295; | N | MONDO:MONDO: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 | 7 | 128490113 | 128490113 | | | 128490113 | - | | | NM_001458.5(FLNC):c.5284C>T (p.Arg1762Cys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 201926772 | RCV000555159|RCV001034665|RCV002350345|RCV003338663; | N | 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:171445|MedGen:CN230736|MONDO:MONDO:001 | 7 | 128490114 | 128490114 | | | 7:g.128490114C>T | ClinGen:CA4475628 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5285G>A (p.Arg1762His) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 779856224 | RCV000699175|RCV002343510|RCV003144546; | N | 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:CN230736|MedGen:C3661900 | 7 | 128490115 | 128490115 | | | 7:g.128490115G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5285G>C (p.Arg1762Pro) | 2318 | FLNC | Uncertain significance | -1 | RCV002622135; | N | 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 | 7 | 128490115 | 128490115 | | | NC_000007.13:g.128490115G>C | - | | | NM_001458.5(FLNC):c.5289C>T (p.Pro1763=) | 2318 | FLNC | Likely benign | 2128937979 | RCV002156802; | N | 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 | 7 | 128490119 | 128490119 | | | 128490119 | - | | | NM_001458.5(FLNC):c.5291C>A (p.Thr1764Lys) | 2318 | FLNC | Uncertain significance | 1585165259 | RCV000822801; | N | 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 | 7 | 128490121 | 128490121 | | | 7:g.128490121C>A | - | | | NM_001458.5(FLNC):c.5295C>T (p.His1765=) | 2318 | FLNC | Benign | -1 | RCV002962411; | N | 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 | 7 | 128490125 | 128490125 | | | | - | | | NM_001458.5(FLNC):c.5296T>C (p.Trp1766Arg) | 2318 | FLNC | Uncertain significance | 751650734 | RCV000525789|RCV000768505|RCV002350346|RCV001535744|RCV002470907|RCV001591259; | N | 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|Human Phenotype Ontology:HP:0001639,MONDO:MONDO | 7 | 128490126 | 128490126 | | | 7:g.128490126T>C | ClinGen:CA4475633 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5298+6G>A | 2318 | FLNC | Conflicting interpretations of pathogenicity | 373553314 | RCV000252502|RCV000538230|RCV000831067; | N | MedGen: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 | 7 | 128490134 | 128490134 | | | NC_000007.13:g.128490134G>A | ClinGen:CA4475634 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5298+7C>T | 2318 | FLNC | Likely benign | 773294846 | RCV000608056|RCV000649268; | N | MedGen: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 | 7 | 128490135 | 128490135 | | | 7:g.128490135C>T | ClinGen:CA4475635 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5298+7C>G | 2318 | FLNC | Likely benign | 773294846 | RCV001456157; | N | 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 | 7 | 128490135 | 128490135 | | | 128490135 | - | | | NM_001458.5(FLNC):c.5298+8G>A | 2318 | FLNC | Likely benign | 867964395 | RCV001402007; | N | 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 | 7 | 128490136 | 128490136 | | | 128490136 | - | | | NM_001458.5(FLNC):c.5298+8G>T | 2318 | FLNC | Likely benign | 867964395 | RCV002211635; | N | 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 | 7 | 128490136 | 128490136 | | | 128490136 | - | | | NM_001458.5(FLNC):c.5298+9C>A | 2318 | FLNC | Likely benign | -1 | RCV002623164; | N | 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 | 7 | 128490137 | 128490137 | | | NC_000007.13:g.128490137C>A | - | | | NM_001458.5(FLNC):c.5298+10C>T | 2318 | FLNC | Likely benign | 1361883369 | RCV001482774; | N | 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 | 7 | 128490138 | 128490138 | | | 128490138 | - | | | NM_001458.5(FLNC):c.5298+12C>T | 2318 | FLNC | Likely benign | 1441508309 | RCV002086097; | N | 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 | 7 | 128490140 | 128490140 | | | 128490140 | - | | | NM_001458.5(FLNC):c.5298+13C>G | 2318 | FLNC | Likely benign | 1184909389 | RCV002179793; | N | 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 | 7 | 128490141 | 128490141 | | | 128490141 | - | | | NM_001458.5(FLNC):c.5298+13C>T | 2318 | FLNC | Likely benign | 1184909389 | RCV002118235; | N | 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 | 7 | 128490141 | 128490141 | | | 128490141 | - | | | NM_001458.5(FLNC):c.5298+14C>T | 2318 | FLNC | Likely benign | 2128937990 | RCV002091236; | N | 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 | 7 | 128490142 | 128490142 | | | 128490142 | - | | | NM_001458.5(FLNC):c.5298+16C>T | 2318 | FLNC | Likely benign | 1808745487 | RCV002100589; | N | 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 | 7 | 128490144 | 128490144 | | | 128490144 | - | | | NM_001458.5(FLNC):c.5298+17C>G | 2318 | FLNC | Likely benign | 947138277 | RCV002104817; | N | 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 | 7 | 128490145 | 128490145 | | | 128490145 | - | | | NM_001458.5(FLNC):c.5298+17C>A | 2318 | FLNC | Likely benign | -1 | RCV002736406; | N | 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 | 7 | 128490145 | 128490145 | | | NC_000007.13:g.128490145C>A | - | | | NM_001458.5(FLNC):c.5299-17C>G | 2318 | FLNC | Uncertain significance | -1 | RCV002900040; | N | 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 | 7 | 128490421 | 128490421 | | | NC_000007.13:g.128490421C>G | - | | | NM_001458.5(FLNC):c.5299-16C>T | 2318 | FLNC | Benign/Likely benign | 753681565 | RCV000610247|RCV002063059; | N | 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 | 7 | 128490422 | 128490422 | | | 7:g.128490422C>T | ClinGen:CA4475648 | CN169374 not specified; | | NM_001458.5(FLNC):c.5299-14C>T | 2318 | FLNC | Likely benign | 754663125 | RCV002102694; | N | 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 | 7 | 128490424 | 128490424 | | | 128490424 | - | | | NM_001458.5(FLNC):c.5299-13T>A | 2318 | FLNC | Likely benign | 2128938069 | RCV002075028; | N | 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 | 7 | 128490425 | 128490425 | | | 128490425 | - | | | NM_001458.5(FLNC):c.5299-10C>T | 2318 | FLNC | Likely benign | 2128938071 | RCV001395960; | N | 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 | 7 | 128490428 | 128490428 | | | 128490428 | - | | | NM_001458.5(FLNC):c.5299-9C>T | 2318 | FLNC | Likely benign | 1554400444 | RCV000649200; | N | 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 | 7 | 128490429 | 128490429 | | | NC_000007.13:g.128490429C>T | ClinGen:CA457583364 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5303C>G (p.Thr1768Arg) | 2318 | FLNC | Uncertain significance | 778860499 | RCV001214204; | N | 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 | 7 | 128490442 | 128490442 | | | 7:g.128490442C>G | - | | | NM_001458.5(FLNC):c.5306A>G (p.Glu1769Gly) | 2318 | FLNC | Uncertain significance | -1 | RCV002810607; | N | 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 | 7 | 128490445 | 128490445 | | | NC_000007.13:g.128490445A>G | - | | | NM_001458.5(FLNC):c.5307G>C (p.Glu1769Asp) | 2318 | FLNC | Uncertain significance | 1808756761 | RCV001298672; | N | 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 | 7 | 128490446 | 128490446 | | | 128490446 | - | | | NM_001458.5(FLNC):c.5310G>A (p.Glu1770=) | 2318 | FLNC | Likely benign | 777868799 | RCV000608736|RCV001398012|RCV002350445; | N | 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:CN230736 | 7 | 128490449 | 128490449 | | | 7:g.128490449G>A | ClinGen:CA4475653 | CN169374 not specified; | | NM_001458.5(FLNC):c.5311C>G (p.Pro1771Ala) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 200001272 | RCV000555502|RCV001721389|RCV002348227; | N | 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:CN230736 | 7 | 128490450 | 128490450 | | | 7:g.128490450C>G | ClinGen:CA4475654 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5317G>A (p.Val1773Met) | 2318 | FLNC | Uncertain significance | -1 | RCV002621515; | N | 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 | 7 | 128490456 | 128490456 | | | NC_000007.13:g.128490456G>A | - | | | NM_001458.5(FLNC):c.5320C>T (p.Pro1774Ser) | 2318 | FLNC | Uncertain significance | 370823820 | RCV001321589; | N | 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 | 7 | 128490459 | 128490459 | | | 128490459 | - | | | NM_001458.5(FLNC):c.5321C>G (p.Pro1774Arg) | 2318 | FLNC | Uncertain significance | 1273796039 | RCV001979779; | N | 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 | 7 | 128490460 | 128490460 | | | 128490460 | - | | | NM_001458.5(FLNC):c.5328G>A (p.Glu1776=) | 2318 | FLNC | Likely benign | 776941739 | RCV002105910; | N | 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 | 7 | 128490467 | 128490467 | | | 128490467 | - | | | NM_001458.5(FLNC):c.5331A>G (p.Pro1777=) | 2318 | FLNC | Likely benign | 2128938084 | RCV001458116; | N | 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 | 7 | 128490470 | 128490470 | | | 128490470 | - | | | NM_001458.5(FLNC):c.5332A>G (p.Met1778Val) | 2318 | FLNC | Uncertain significance | 1347090077 | RCV001059658|RCV002348434; | N | 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 | 7 | 128490471 | 128490471 | | | 7:g.128490471A>G | - | | | NM_001458.5(FLNC):c.5335G>T (p.Glu1779Ter) | 2318 | FLNC | Pathogenic | 1808758208 | RCV001214702; | N | 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 | 7 | 128490474 | 128490474 | | | 7:g.128490474G>T | - | | | NM_001458.5(FLNC):c.5341A>G (p.Met1781Val) | 2318 | FLNC | Uncertain significance | 540112341 | RCV002015918; | N | 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 | 7 | 128490480 | 128490480 | | | 128490480 | - | | | NM_001458.5(FLNC):c.5343G>A (p.Met1781Ile) | 2318 | FLNC | Uncertain significance | 1554400464 | RCV000649112; | N | 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 | 7 | 128490482 | 128490482 | | | NC_000007.13:g.128490482G>A | ClinGen:CA369205115 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5352C>T (p.Pro1784=) | 2318 | FLNC | Likely benign | 775978179 | RCV002150122; | N | 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 | 7 | 128490491 | 128490491 | | | 128490491 | - | | | NM_001458.5(FLNC):c.5353T>A (p.Phe1785Ile) | 2318 | FLNC | Uncertain significance | 1035403005 | RCV000796069|RCV003307440; | N | 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 | 7 | 128490492 | 128490492 | | | 7:g.128490492T>A | - | | | NM_001458.5(FLNC):c.5354T>C (p.Phe1785Ser) | 2318 | FLNC | Uncertain significance | 1808758860 | RCV001053339; | N | 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 | 7 | 128490493 | 128490493 | | | 7:g.128490493T>C | - | | | NM_001458.5(FLNC):c.5358C>G (p.Asn1786Lys) | 2318 | FLNC | Uncertain significance | 1311819055 | RCV001221810; | N | 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 | 7 | 128490497 | 128490497 | | | 7:g.128490497C>G | - | | | NM_001458.5(FLNC):c.5358C>T (p.Asn1786=) | 2318 | FLNC | Likely benign | -1 | RCV002647474; | N | 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 | 7 | 128490497 | 128490497 | | | | - | | | NM_001458.5(FLNC):c.5362G>T (p.Val1788Phe) | 2318 | FLNC | Uncertain significance | 1808759348 | RCV001224693; | N | 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 | 7 | 128490501 | 128490501 | | | 7:g.128490501G>T | - | | | NM_001458.5(FLNC):c.5363T>G (p.Val1788Gly) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 573899913 | RCV000693854|RCV001585630|RCV002343478; | N | 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:CN517202|MedGen:CN230736 | 7 | 128490502 | 128490502 | | | 7:g.128490502T>G | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5365A>G (p.Ile1789Val) | 2318 | FLNC | Uncertain significance | -1 | RCV002666905; | N | 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 | 7 | 128490504 | 128490504 | | | NC_000007.13:g.128490504A>G | - | | | NM_001458.5(FLNC):c.5367C>T (p.Ile1789=) | 2318 | FLNC | Likely benign | 377214486 | RCV000831462|RCV001085561|RCV001700288|RCV002343340|RCV003150322; | N | MedGen: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:CN230736 | 7 | 128490506 | 128490506 | | | NC_000007.13:g.128490506C>T | ClinGen:CA4475663 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5370C>T (p.Pro1790=) | 2318 | FLNC | Likely benign | 766344715 | RCV002140445; | N | 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 | 7 | 128490509 | 128490509 | | | 128490509 | - | | | NM_001458.5(FLNC):c.5372T>A (p.Phe1791Tyr) | 2318 | FLNC | Uncertain significance | 2128938095 | RCV001973565; | N | 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 | 7 | 128490511 | 128490511 | | | 128490511 | - | | | NM_001458.5(FLNC):c.5373C>T (p.Phe1791=) | 2318 | FLNC | Likely benign | 370373860 | RCV000531536|RCV001584314|RCV002350347; | N | 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:CN517202|MedGen:CN230736 | 7 | 128490512 | 128490512 | | | 7:g.128490512C>T | ClinGen:CA4475665 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5374G>A (p.Ala1792Thr) | 2318 | FLNC | Likely benign | 201348102 | RCV000244089|RCV000649060|RCV001697720|RCV002347956|RCV003150144; | N | MedGen: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:CN230736 | 7 | 128490513 | 128490513 | | | NC_000007.13:g.128490513G>A | ClinGen:CA4475666 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5375C>T (p.Ala1792Val) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 200233856 | RCV000177639|RCV000552189|RCV002345618; | N | MedGen: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:CN230736 | 7 | 128490514 | 128490514 | | | 7:g.128490514C>T | ClinGen:CA244143 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5376G>A (p.Ala1792=) | 2318 | FLNC | Benign/Likely benign | 758648462 | RCV000649101|RCV002343336; | N | 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:CN230736 | 7 | 128490515 | 128490515 | | | 7:g.128490515G>A | ClinGen:CA4475668 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5377G>A (p.Val1793Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 587780337 | RCV000117077|RCV000811021|RCV002490794|RCV003352772; | N | MedGen: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:C183 | 7 | 128490516 | 128490516 | | | NC_000007.13:g.128490516G>A | ClinGen:CA231117 | CN517202 not provided; | | NM_001458.5(FLNC):c.5379G>A (p.Val1793=) | 2318 | FLNC | Likely benign | 558457664 | RCV002096686; | N | 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 | 7 | 128490518 | 128490518 | | | 128490518 | - | | | NM_001458.5(FLNC):c.5389dup (p.Glu1797fs) | 2318 | FLNC | Pathogenic | 2128938104 | RCV001381580; | N | 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 | 7 | 128490524 | 128490525 | | | 128490524 | - | | | NM_001458.5(FLNC):c.5388G>C (p.Gly1796=) | 2318 | FLNC | Likely benign | 371633189 | RCV001425805|RCV003160708; | N | 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:CN230736 | 7 | 128490527 | 128490527 | | | 128490527 | - | | | NM_001458.5(FLNC):c.5391G>A (p.Glu1797=) | 2318 | FLNC | Likely benign | -1 | RCV003063453; | N | 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 | 7 | 128490530 | 128490530 | | | | - | | | NM_001458.5(FLNC):c.5395A>C (p.Thr1799Pro) | 2318 | FLNC | Uncertain significance | 1243600050 | RCV001230409; | N | 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 | 7 | 128490534 | 128490534 | | | 7:g.128490534A>C | - | | | NM_001458.5(FLNC):c.5397A>C (p.Thr1799=) | 2318 | FLNC | Likely benign | 781322314 | RCV001043750|RCV002348364; | N | 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|MedGen:CN230736 | 7 | 128490536 | 128490536 | | | 7:g.128490536A>C | - | | | NM_001458.5(FLNC):c.5398G>A (p.Gly1800Arg) | 2318 | FLNC | Uncertain significance | 2128938108 | RCV002019858; | N | 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 | 7 | 128490537 | 128490537 | | | 128490537 | - | | | NM_001458.5(FLNC):c.5398+1G>C | 2318 | FLNC | Likely pathogenic | 1808761665 | RCV001035909; | N | 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 | 7 | 128490538 | 128490538 | | | 7:g.128490538G>C | - | | | NM_001458.5(FLNC):c.5398+6G>C | 2318 | FLNC | Likely benign | 746415033 | RCV000870733|RCV001091490; | N | 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:CN517202 | 7 | 128490543 | 128490543 | | | 7:g.128490543G>C | - | | | NM_001458.5(FLNC):c.5398+12T>G | 2318 | FLNC | Likely benign | 2128938113 | RCV002187860; | N | 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 | 7 | 128490549 | 128490549 | | | 128490549 | - | | | NM_001458.5(FLNC):c.5398+16T>C | 2318 | FLNC | Benign | 13227216 | RCV000249016|RCV002058056; | N | MedGen: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 | 7 | 128490553 | 128490553 | | | NC_000007.13:g.128490553T>C | ClinGen:CA4475674 | CN169374 not specified; | | NM_001458.5(FLNC):c.5399-17C>T | 2318 | FLNC | Likely benign | 930809365 | RCV001699676|RCV001703334|RCV002073282; | N | MedGen: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:63273 | 7 | 128490840 | 128490840 | | | 128490840 | - | | | NM_001458.5(FLNC):c.5399-12_5399-9del | 2318 | FLNC | Likely benign | 766580034 | RCV002025930; | N | 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 | 7 | 128490843 | 128490846 | | | 128490842 | - | | | NM_001458.5(FLNC):c.5399-8C>T | 2318 | FLNC | Likely benign | 575189613 | RCV001465399; | N | 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 | 7 | 128490849 | 128490849 | | | 128490849 | - | | | NM_001458.5(FLNC):c.5399-8C>A | 2318 | FLNC | Likely benign | -1 | RCV002695480; | N | 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 | 7 | 128490849 | 128490849 | | | NC_000007.13:g.128490849C>A | - | | | NM_001458.5(FLNC):c.5399-2A>C | 2318 | FLNC | Likely pathogenic | 2128938204 | RCV001973945; | N | 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 | 7 | 128490855 | 128490855 | | | 128490855 | - | | | NM_001458.5(FLNC):c.5399-1G>A | 2318 | FLNC | Likely pathogenic | -1 | RCV003017360; | N | 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 | 7 | 128490856 | 128490856 | | | NC_000007.13:g.128490856G>A | - | | | NM_001458.5(FLNC):c.5407C>T (p.Arg1803Trp) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 369457426 | RCV001296237|RCV002350520; | N | 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 | 7 | 128490865 | 128490865 | | | 128490865 | - | | | NM_001458.5(FLNC):c.5408G>A (p.Arg1803Gln) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 757482925 | RCV000794943|RCV002470984|RCV003353025; | N | 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|EFO:EFO_0000407,Human Phenotype Ontology:HP:000 | 7 | 128490866 | 128490866 | | | 7:g.128490866G>A | - | | | NM_001458.5(FLNC):c.5410A>T (p.Met1804Leu) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 201949844 | RCV000818989|RCV001759597|RCV002345885|RCV002487818; | N | 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:CN230736|MONDO:MONDO:001 | 7 | 128490868 | 128490868 | | | 7:g.128490868A>T | - | | | NM_001458.5(FLNC):c.5412G>A (p.Met1804Ile) | 2318 | FLNC | Likely benign | 564010656 | RCV001350542; | N | 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 | 7 | 128490870 | 128490870 | | | 128490870 | - | | | NM_001458.5(FLNC):c.5413C>A (p.Pro1805Thr) | 2318 | FLNC | Uncertain significance | 1808775264 | RCV001312349; | N | 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 | 7 | 128490871 | 128490871 | | | 128490871 | - | | | NM_001458.5(FLNC):c.5414C>T (p.Pro1805Leu) | 2318 | FLNC | Uncertain significance | 2128938211 | RCV001370345; | N | 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 | 7 | 128490872 | 128490872 | | | 128490872 | - | | | NM_001458.5(FLNC):c.5417C>T (p.Ser1806Leu) | 2318 | FLNC | Uncertain significance | 1224086145 | RCV001872085; | N | 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 | 7 | 128490875 | 128490875 | | | 128490875 | - | | | NM_001458.5(FLNC):c.5418G>A (p.Ser1806=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 376078394 | RCV000339649|RCV001080768|RCV001699335|RCV002348027; | N | 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:CN169374|MedGen:CN230736 | 7 | 128490876 | 128490876 | | | 7:g.128490876G>A | ClinGen:CA4475691 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5426C>T (p.Thr1809Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 369118592 | RCV000802678|RCV002345793|RCV003144621; | N | 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|MedGen:C3661900 | 7 | 128490884 | 128490884 | | | 7:g.128490884C>T | - | | | NM_001458.5(FLNC):c.5427G>A (p.Thr1809=) | 2318 | FLNC | Likely benign | 774600814 | RCV000649271|RCV002343342|RCV003424236; | N | 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:CN230736|MedGen:C3661900 | 7 | 128490885 | 128490885 | | | NC_000007.13:g.128490885G>A | ClinGen:CA4475694 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5427G>C (p.Thr1809=) | 2318 | FLNC | Benign/Likely benign | 774600814 | RCV000711690|RCV001080674|RCV002343585; | N | MedGen: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:CN230736 | 7 | 128490885 | 128490885 | | | NC_000007.13:g.128490885G>C | - | | | NM_001458.5(FLNC):c.5430_5431inv (p.Arg1811Trp) | 2318 | FLNC | Uncertain significance | -1 | RCV002008390; | N | 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 | 7 | 128490888 | 128490889 | | | 128490888 | - | | | NM_001458.5(FLNC):c.5431C>T (p.Arg1811Trp) | 2318 | FLNC | Uncertain significance | 374794518 | RCV001233369|RCV001546048|RCV002348785|RCV002497797; | N | 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:CN230736|MONDO:MONDO:001 | 7 | 128490889 | 128490889 | | | 7:g.128490889C>T | - | | | NM_001458.5(FLNC):c.5431C>A (p.Arg1811=) | 2318 | FLNC | Likely benign | -1 | RCV002672060; | N | 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 | 7 | 128490889 | 128490889 | | | | - | | | NM_001458.5(FLNC):c.5432G>A (p.Arg1811Gln) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 369759751 | RCV000706225|RCV001772008|RCV002343567|RCV002485770; | N | 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:CN230736|MONDO:MONDO:001 | 7 | 128490890 | 128490890 | | | NC_000007.13:g.128490890G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5438A>G (p.Asn1813Ser) | 2318 | FLNC | Uncertain significance | -1 | RCV003086225; | N | 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 | 7 | 128490896 | 128490896 | | | NC_000007.13:g.128490896A>G | - | | | NM_001458.5(FLNC):c.5440A>G (p.Ile1814Val) | 2318 | FLNC | Uncertain significance | 1168575419 | RCV002031582|RCV003334404; | N | MONDO:MONDO: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| | 7 | 128490898 | 128490898 | | | 128490898 | - | | | NM_001458.5(FLNC):c.5444C>T (p.Thr1815Ile) | 2318 | FLNC | Uncertain significance | 1361160043 | RCV001056843; | N | 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 | 7 | 128490902 | 128490902 | | | 7:g.128490902C>T | - | | | NM_001458.5(FLNC):c.5445C>T (p.Thr1815=) | 2318 | FLNC | Likely benign | 758995789 | RCV000649218|RCV001577293|RCV001796166|RCV002343341|RCV003150323; | N | 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:CN517202|MedGen:CN169374|MedGen:CN230736 | 7 | 128490903 | 128490903 | | | NC_000007.13:g.128490903C>T | ClinGen:CA4475699 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5446G>A (p.Asp1816Asn) | 2318 | FLNC | Uncertain significance | 1198641168 | RCV001241679|RCV002348823|RCV003145465; | N | 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:CN230736|MedGen:CN517202 | 7 | 128490904 | 128490904 | | | 7:g.128490904G>A | - | | | NM_001458.5(FLNC):c.5448CAA[1] (p.Asn1817del) | 2318 | FLNC | Uncertain significance | 1312829675 | RCV000649165|RCV002485459|RCV003162969; | N | 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|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047 | 7 | 128490905 | 128490907 | | | NC_000007.13:g.128490906CAA[1] | ClinGen:CA658797013 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5449A>T (p.Asn1817Tyr) | 2318 | FLNC | Uncertain significance | 373146637 | RCV000698729|RCV001662771|RCV002343506; | N | 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:CN517202|MedGen:CN230736 | 7 | 128490907 | 128490907 | | | 7:g.128490907A>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5451C>G (p.Asn1817Lys) | 2318 | FLNC | Uncertain significance | 762869314 | RCV000813635; | N | 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 | 7 | 128490909 | 128490909 | | | 7:g.128490909C>G | - | | | NM_001458.5(FLNC):c.5452A>C (p.Lys1818Gln) | 2318 | FLNC | Uncertain significance | -1 | RCV002616094; | N | 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 | 7 | 128490910 | 128490910 | | | NC_000007.13:g.128490910A>C | - | | | NM_001458.5(FLNC):c.5455G>T (p.Asp1819Tyr) | 2318 | FLNC | Uncertain significance | 1808778177 | RCV001209896; | N | 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 | 7 | 128490913 | 128490913 | | | 7:g.128490913G>T | - | | | NM_001458.5(FLNC):c.5455G>A (p.Asp1819Asn) | 2318 | FLNC | Uncertain significance | 1808778177 | RCV001326807; | N | 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 | 7 | 128490913 | 128490913 | | | 128490913 | - | | | NM_001458.5(FLNC):c.5456A>T (p.Asp1819Val) | 2318 | FLNC | Uncertain significance | 2128938237 | RCV001907694; | N | 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 | 7 | 128490914 | 128490914 | | | 128490914 | - | | | NM_001458.5(FLNC):c.5457C>T (p.Asp1819=) | 2318 | FLNC | Likely benign | 376660713 | RCV000533034|RCV002350348; | N | 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:CN230736 | 7 | 128490915 | 128490915 | | | 7:g.128490915C>T | ClinGen:CA166188129 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5458G>A (p.Gly1820Ser) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 763930207 | RCV001964198|RCV002484860; | N | 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|MONDO:MONDO:0012289,MedGen:C1836050,OMIM:609524 | 7 | 128490916 | 128490916 | | | 128490916 | - | | | NM_001458.5(FLNC):c.5469_5482del (p.Val1824fs) | 2318 | FLNC | Pathogenic | 1808778979 | RCV001048699; | N | 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 | 7 | 128490924 | 128490937 | | | 7:g.128490924_128490937del | - | | | NM_001458.5(FLNC):c.5468C>T (p.Thr1823Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 140857707 | RCV000690475|RCV001573588|RCV002343457|RCV002477552; | N | 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:C3661900|MedGen:CN230736|MONDO:MONDO:001 | 7 | 128490926 | 128490926 | | | NC_000007.13:g.128490926C>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5469G>A (p.Thr1823=) | 2318 | FLNC | Likely benign | 550620019 | RCV000615608|RCV000875640|RCV002350481; | N | MedGen: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:CN230736 | 7 | 128490927 | 128490927 | | | 7:g.128490927G>A | ClinGen:CA4475706 | CN169374 not specified; | | NM_001458.5(FLNC):c.5469G>C (p.Thr1823=) | 2318 | FLNC | Likely benign | 550620019 | RCV001437721|RCV002346130; | N | MONDO:MONDO: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:CN230736 | 7 | 128490927 | 128490927 | | | 7:g.128490927G>C | - | | | NM_001458.5(FLNC):c.5470G>A (p.Val1824Met) | 2318 | FLNC | Uncertain significance | 1808779198 | RCV001294759; | N | 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 | 7 | 128490928 | 128490928 | | | 128490928 | - | | | NM_001458.5(FLNC):c.5477A>G (p.Tyr1826Cys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 756197388 | RCV001048238|RCV002348384|RCV003128739; | N | 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|MedGen:CN517202 | 7 | 128490935 | 128490935 | | | 7:g.128490935A>G | - | | | NM_001458.5(FLNC):c.5478T>G (p.Tyr1826Ter) | 2318 | FLNC | Pathogenic/Likely pathogenic | 371167779 | RCV000760650|RCV001388295; | N | 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 | 7 | 128490936 | 128490936 | | | NC_000007.13:g.128490936T>G | - | | | NM_001458.5(FLNC):c.5478T>C (p.Tyr1826=) | 2318 | FLNC | Likely benign | 371167779 | RCV001405611|RCV002346108; | N | 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 | 7 | 128490936 | 128490936 | | | 7:g.128490936T>C | - | | | NM_001458.5(FLNC):c.5483C>T (p.Pro1828Leu) | 2318 | FLNC | Uncertain significance | 2128938246 | RCV001973535; | N | 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 | 7 | 128490941 | 128490941 | | | 128490941 | - | | | NM_001458.5(FLNC):c.5486C>T (p.Thr1829Ile) | 2318 | FLNC | Uncertain significance | 1585166066 | RCV000799112; | N | 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 | 7 | 128490944 | 128490944 | | | 7:g.128490944C>T | - | | | NM_001458.5(FLNC):c.5489A>G (p.Glu1830Gly) | 2318 | FLNC | Uncertain significance | -1 | RCV002715101; | N | 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 | 7 | 128490947 | 128490947 | | | NC_000007.13:g.128490947A>G | - | | | NM_001458.5(FLNC):c.5491A>G (p.Lys1831Glu) | 2318 | FLNC | Uncertain significance | 374126692 | RCV002026840; | N | 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 | 7 | 128490949 | 128490949 | | | 128490949 | - | | | NM_001458.5(FLNC):c.5493A>G (p.Lys1831=) | 2318 | FLNC | Likely benign | -1 | RCV002794818; | N | 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 | 7 | 128490951 | 128490951 | | | | - | | | NM_001458.5(FLNC):c.5495G>T (p.Gly1832Val) | 2318 | FLNC | Uncertain significance | 1808780127 | RCV001349688; | N | 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 | 7 | 128490953 | 128490953 | | | 128490953 | - | | | NM_001458.5(FLNC):c.5500C>T (p.His1834Tyr) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 377141822 | RCV000557063|RCV002350349|RCV001532120; | N | 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:C3661900 | 7 | 128490958 | 128490958 | | | NC_000007.13:g.128490958C>T | ClinGen:CA4475711 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5505G>C (p.Gln1835His) | 2318 | FLNC | Uncertain significance | -1 | RCV002302337; | N | 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 | 7 | 128490963 | 128490963 | | | 128490963 | - | | | NM_001458.5(FLNC):c.5506A>C (p.Met1836Leu) | 2318 | FLNC | Uncertain significance | 1808780678 | RCV001037201|RCV003363053; | N | MONDO:MONDO: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 | 7 | 128490964 | 128490964 | | | 7:g.128490964A>C | - | | | NM_001458.5(FLNC):c.5508G>A (p.Met1836Ile) | 2318 | FLNC | Uncertain significance | 1175006964 | RCV001060124; | N | 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 | 7 | 128490966 | 128490966 | | | 7:g.128490966G>A | - | | | NM_001458.5(FLNC):c.5517G>A (p.Lys1839=) | 2318 | FLNC | Likely benign | 779185071 | RCV000981496; | N | 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 | 7 | 128490975 | 128490975 | | | 7:g.128490975G>A | - | | | NM_001458.5(FLNC):c.5518T>A (p.Tyr1840Asn) | 2318 | FLNC | Uncertain significance | -1 | RCV002620248; | N | 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 | 7 | 128490976 | 128490976 | | | NC_000007.13:g.128490976T>A | - | | | NM_001458.5(FLNC):c.5520T>A (p.Tyr1840Ter) | 2318 | FLNC | Pathogenic | 1808781579 | RCV001382707; | N | 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 | 7 | 128490978 | 128490978 | | | 128490978 | - | | | NM_001458.5(FLNC):c.5520T>C (p.Tyr1840=) | 2318 | FLNC | Likely benign | 1808781579 | RCV001482003; | N | 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 | 7 | 128490978 | 128490978 | | | 128490978 | - | | | NM_001458.5(FLNC):c.5523C>T (p.Asp1841=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 748504948 | RCV000938808|RCV002346133; | N | 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 | 7 | 128490981 | 128490981 | | | 7:g.128490981C>T | - | | | NM_001458.5(FLNC):c.5524G>A (p.Gly1842Ser) | 2318 | FLNC | Uncertain significance | 756880490 | RCV001219665|RCV002280169; | N | 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:CN517202 | 7 | 128490982 | 128490982 | | | 7:g.128490982G>A | - | | | NM_001458.5(FLNC):c.5530C>T (p.His1844Tyr) | 2318 | FLNC | Uncertain significance | -1 | RCV003041950; | N | 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 | 7 | 128490988 | 128490988 | | | NC_000007.13:g.128490988C>T | - | | | NM_001458.5(FLNC):c.5537C>T (p.Pro1846Leu) | 2318 | FLNC | Uncertain significance | 1408298919 | RCV000533089|RCV002350350|RCV003144356; | N | 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:CN230736|MedGen:CN517202 | 7 | 128490995 | 128490995 | | | 7:g.128490995C>T | ClinGen:CA369207098 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5539+10GGGCT[4] | 2318 | FLNC | Likely benign | 752668700 | RCV000945800; | N | 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 | 7 | 128491006 | 128491007 | | | 7:g.128491006_128491007insGGGCT | - | | | NM_001458.5(FLNC):c.5539+10GGGCT[2] | 2318 | FLNC | Likely benign | 752668700 | RCV002204613; | N | 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 | 7 | 128491007 | 128491011 | | | 128491006 | - | | | NM_001458.5(FLNC):c.5539+15G>A | 2318 | FLNC | Likely benign | 967007657 | RCV002159192; | N | 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 | 7 | 128491012 | 128491012 | | | 128491012 | - | | | NM_001458.5(FLNC):c.5539+16G>T | 2318 | FLNC | Likely benign | -1 | RCV003038998; | N | 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 | 7 | 128491013 | 128491013 | | | NC_000007.13:g.128491013G>T | - | | | NM_001458.5(FLNC):c.5540-20C>T | 2318 | FLNC | Benign | 556203733 | RCV001647764|RCV002072978; | N | 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 | 7 | 128491266 | 128491266 | | | 128491266 | - | | | NM_001458.5(FLNC):c.5540-19T>C | 2318 | FLNC | Likely benign | 2128938346 | RCV002091439; | N | 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 | 7 | 128491267 | 128491267 | | | 128491267 | - | | | NM_001458.5(FLNC):c.5540-11T>C | 2318 | FLNC | Likely benign | 773637016 | RCV002130994; | N | MONDO:MONDO: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 | 7 | 128491275 | 128491275 | | | 128491275 | - | | | NM_001458.5(FLNC):c.5540-8A>G | 2318 | FLNC | Likely benign | 760965562 | RCV002121182; | N | 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 | 7 | 128491278 | 128491278 | | | 128491278 | - | | | NM_001458.5(FLNC):c.5540-6C>G | 2318 | FLNC | Uncertain significance | 201335006 | RCV000545855|RCV003150272; | N | 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:0001638,MONDO:MONDO | 7 | 128491280 | 128491280 | | | 7:g.128491280C>G | ClinGen:CA4475731 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5540-6C>A | 2318 | FLNC | Likely benign | 201335006 | RCV000696566; | N | 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 | 7 | 128491280 | 128491280 | | | 7:g.128491280C>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5540-5C>T | 2318 | FLNC | Likely benign | 2128938350 | RCV001487610; | N | 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 | 7 | 128491281 | 128491281 | | | 128491281 | - | | | NM_001458.5(FLNC):c.5540-2A>G | 2318 | FLNC | Likely pathogenic | 111477195 | RCV002007904; | N | 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 | 7 | 128491284 | 128491284 | | | 128491284 | - | | | NM_001458.5(FLNC):c.5544C>T (p.Ser1848=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1350503435 | RCV000937650|RCV001431028|RCV002346125; | N | MedGen: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:CN230736 | 7 | 128491290 | 128491290 | | | 7:g.128491290C>T | - | | | NM_001458.5(FLNC):c.5545C>A (p.Pro1849Thr) | 2318 | FLNC | Uncertain significance | 1808798354 | RCV001048235; | N | 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 | 7 | 128491291 | 128491291 | | | 7:g.128491291C>A | - | | | NM_001458.5(FLNC):c.5550A>G (p.Leu1850=) | 2318 | FLNC | Likely benign | -1 | RCV002746056; | N | 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 | 7 | 128491296 | 128491296 | | | | - | | | NM_001458.5(FLNC):c.5557del (p.Tyr1853fs) | 2318 | FLNC | Pathogenic | 2128938355 | RCV001387424; | N | 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 | 7 | 128491303 | 128491303 | | | 128491302 | - | | | NM_001458.5(FLNC):c.5560G>C (p.Val1854Leu) | 2318 | FLNC | Uncertain significance | -1 | RCV002933102; | N | 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 | 7 | 128491306 | 128491306 | | | NC_000007.13:g.128491306G>C | - | | | NM_001458.5(FLNC):c.5560G>A (p.Val1854Met) | 2318 | FLNC | Uncertain significance | -1 | RCV003046710; | N | 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 | 7 | 128491306 | 128491306 | | | NC_000007.13:g.128491306G>A | - | | | NM_001458.5(FLNC):c.5564A>T (p.Asp1855Val) | 2318 | FLNC | Uncertain significance | -1 | RCV002607386; | N | 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 | 7 | 128491310 | 128491310 | | | NC_000007.13:g.128491310A>T | - | | | NM_001458.5(FLNC):c.5569_5578del (p.Ile1857fs) | 2318 | FLNC | Pathogenic | 2128938360 | RCV001384199; | N | 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 | 7 | 128491312 | 128491321 | | | 128491311 | - | | | NM_001458.5(FLNC):c.5568C>G (p.Ala1856=) | 2318 | FLNC | Likely benign | 1554400651 | RCV000558257; | N | 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 | 7 | 128491314 | 128491314 | | | 7:g.128491314C>G | ClinGen:CA457849025 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys) | 2318 | FLNC | Benign/Likely benign | 181067717 | RCV000177767|RCV000545493|RCV001082895|RCV002345619; | N | MedGen: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:CN230736 | 7 | 128491324 | 128491324 | | | 7:g.128491324C>T | ClinGen:CA202624 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5579G>A (p.Arg1860His) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1019973830 | RCV000484170|RCV000649140|RCV002350077; | N | MedGen: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:CN230736 | 7 | 128491325 | 128491325 | | | 7:g.128491325G>A | ClinGen:CA16618354 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5580C>G (p.Arg1860=) | 2318 | FLNC | Likely benign | 955205184 | RCV002123144|RCV002494390; | N | 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:C1836050,OMIM:609524 | 7 | 128491326 | 128491326 | | | 128491326 | - | | | NM_001458.5(FLNC):c.5583T>C (p.His1861=) | 2318 | FLNC | Likely benign | 777992233 | RCV001455688; | N | 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 | 7 | 128491329 | 128491329 | | | 128491329 | - | | | NM_001458.5(FLNC):c.5588G>A (p.Ser1863Asn) | 2318 | FLNC | Uncertain significance | 1224825896 | RCV002020229; | N | 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 | 7 | 128491334 | 128491334 | | | 128491334 | - | | | NM_001458.5(FLNC):c.5592C>T (p.Ala1864=) | 2318 | FLNC | Benign | 117517372 | RCV000117078|RCV000534583|RCV002345418; | N | MedGen: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:CN230736 | 7 | 128491338 | 128491338 | | | 7:g.128491338C>T | ClinGen:CA152868 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5598G>A (p.Gly1866=) | 2318 | FLNC | Benign/Likely benign | -1 | RCV002344845|RCV003096802; | N | MedGen: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:CN239310 | 7 | 128491344 | 128491344 | | | | - | | | NM_001458.5(FLNC):c.5605C>T (p.Leu1869=) | 2318 | FLNC | Likely benign | 916680913 | RCV002201442; | N | 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 | 7 | 128491351 | 128491351 | | | 128491351 | - | | | NM_001458.5(FLNC):c.5607G>C (p.Leu1869=) | 2318 | FLNC | Likely benign | 2128938380 | RCV002102046; | N | 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 | 7 | 128491353 | 128491353 | | | 128491353 | - | | | NM_001458.5(FLNC):c.5613_5635del (p.Gly1872fs) | 2318 | FLNC | Pathogenic | 2128938382 | RCV001901260; | N | 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 | 7 | 128491354 | 128491376 | | | 128491353 | - | | | NM_001458.5(FLNC):c.5618T>A (p.Met1873Lys) | 2318 | FLNC | Uncertain significance | 1808801511 | RCV001053861; | N | 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 | 7 | 128491364 | 128491364 | | | 7:g.128491364T>A | - | | | NM_001458.5(FLNC):c.5624A>G (p.Asn1875Ser) | 2318 | FLNC | Uncertain significance | 1808801761 | RCV001344112|RCV003284233; | N | 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:CN230736 | 7 | 128491370 | 128491370 | | | 128491370 | - | | | NM_001458.5(FLNC):c.5625C>T (p.Asn1875=) | 2318 | FLNC | Likely benign | 2128938386 | RCV002217397; | N | 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:614065, Orphanet:63273 | 7 | 128491371 | 128491371 | | | 128491371 | - | | | NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 184018403 | RCV000269975|RCV000725969|RCV001083752|RCV002348011|RCV003150152; | N | MedGen: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:CN230736 | 7 | 128491390 | 128491390 | | | 7:g.128491390A>G | ClinGen:CA4475740 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5653A>T (p.Lys1885Ter) | 2318 | FLNC | Pathogenic | 1563001456 | RCV000687879; | N | 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 | 7 | 128491399 | 128491399 | | | NC_000007.13:g.128491399A>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5657A>G (p.Asp1886Gly) | 2318 | FLNC | Likely benign | 771960952 | RCV001321341; | N | 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 | 7 | 128491403 | 128491403 | | | 128491403 | - | | | NM_001458.5(FLNC):c.5665del (p.Glu1889fs) | 2318 | FLNC | Pathogenic | 2128938391 | RCV001385781; | N | 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 | 7 | 128491411 | 128491411 | | | 128491410 | - | | | NM_001458.5(FLNC):c.5666A>G (p.Glu1889Gly) | 2318 | FLNC | Uncertain significance | -1 | RCV002588420; | N | 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 | 7 | 128491412 | 128491412 | | | NC_000007.13:g.128491412A>G | - | | | NM_001458.5(FLNC):c.5668G>T (p.Gly1890Trp) | 2318 | FLNC | Uncertain significance | 1808803000 | RCV001996889; | N | 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 | 7 | 128491414 | 128491414 | | | 128491414 | - | | | NM_001458.5(FLNC):c.5668+3G>A | 2318 | FLNC | Uncertain significance | 1563001474 | RCV002022409|RCV002346274; | N | 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:CN230736 | 7 | 128491417 | 128491417 | | | 128491417 | - | | | NM_001458.5(FLNC):c.5668+4A>C | 2318 | FLNC | Uncertain significance | 1259876470 | RCV000649093|RCV003162966; | N | 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:CN230736 | 7 | 128491418 | 128491418 | | | 7:g.128491418A>C | ClinGen:CA658797014 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5668+6G>A | 2318 | FLNC | Uncertain significance | 773119692 | RCV000649068; | N | 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 | 7 | 128491420 | 128491420 | | | 7:g.128491420G>A | ClinGen:CA4475744 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5668+8A>C | 2318 | FLNC | Likely benign | 2128938396 | RCV002184888; | N | 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 | 7 | 128491422 | 128491422 | | | 128491422 | - | | | NM_001458.5(FLNC):c.5668+15G>A | 2318 | FLNC | Likely benign | 766668215 | RCV002112487; | N | 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 | 7 | 128491429 | 128491429 | | | 128491429 | - | | | NM_001458.5(FLNC):c.5668+16G>T | 2318 | FLNC | Likely benign | -1 | RCV003082495; | N | 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 | 7 | 128491430 | 128491430 | | | NC_000007.13:g.128491430G>T | - | | | NM_001458.5(FLNC):c.5668+18C>T | 2318 | FLNC | Likely benign | 540465449 | RCV002104674; | N | 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 | 7 | 128491432 | 128491432 | | | 128491432 | - | | | NM_001458.5(FLNC):c.5668+18C>A | 2318 | FLNC | Likely benign | -1 | RCV002938797; | N | 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 | 7 | 128491432 | 128491432 | | | NC_000007.13:g.128491432C>A | - | | | NM_001458.5(FLNC):c.5668+19G>A | 2318 | FLNC | Likely benign | -1 | RCV002947255; | N | 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 | 7 | 128491433 | 128491433 | | | NC_000007.13:g.128491433G>A | - | | | NM_001458.5(FLNC):c.5669-13C>T | 2318 | FLNC | Likely benign | 375339065 | RCV002150018; | N | 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 | 7 | 128491496 | 128491496 | | | 128491496 | - | | | NM_001458.5(FLNC):c.5669-12C>T | 2318 | FLNC | Benign | 79790270 | RCV000245106|RCV001795443|RCV002058057; | N | MedGen: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 | 7 | 128491497 | 128491497 | | | 7:g.128491497C>T | ClinGen:CA4475760 | CN169374 not specified; | | NM_001458.5(FLNC):c.5669-10C>T | 2318 | FLNC | Likely benign | 371394538 | RCV000951376; | N | 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:614065, Orphanet:63273 | 7 | 128491499 | 128491499 | | | 7:g.128491499C>T | - | | | NM_001458.5(FLNC):c.5669-9C>T | 2318 | FLNC | Likely benign | 374651908 | RCV000945564; | N | 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 | 7 | 128491500 | 128491500 | | | 7:g.128491500C>T | - | | | NM_001458.5(FLNC):c.5669-8A>T | 2318 | FLNC | Likely benign | -1 | RCV003092392; | N | 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 | 7 | 128491501 | 128491501 | | | NC_000007.13:g.128491501A>T | - | | | NM_001458.5(FLNC):c.5669-1del | 2318 | FLNC | Pathogenic | 1563001548 | RCV000686980|RCV003235349; | N | 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:C4310749,OMIM:617047 | 7 | 128491508 | 128491508 | | | | OMIM:102565.0014 | | | NM_001458.5(FLNC):c.5670G>A (p.Gly1890=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 369881758 | RCV000878550|RCV001823749|RCV002346042; | N | 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:CN169374|MedGen:CN230736 | 7 | 128491510 | 128491510 | | | 7:g.128491510G>A | - | | | NM_001458.5(FLNC):c.5671G>T (p.Gly1891Cys) | 2318 | FLNC | Uncertain significance | 2128938427 | RCV001995923; | N | 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 | 7 | 128491511 | 128491511 | | | 128491511 | - | | | NM_001458.5(FLNC):c.5675_5678del (p.Leu1892fs) | 2318 | FLNC | Pathogenic | 1585166614 | RCV000818175; | N | 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 | 7 | 128491512 | 128491515 | | | 7:g.128491512_128491515del | - | | | NM_001458.5(FLNC):c.5672G>A (p.Gly1891Asp) | 2318 | FLNC | Uncertain significance | 1808808728 | RCV001983362; | N | 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 | 7 | 128491512 | 128491512 | | | 128491512 | - | | | NM_001458.5(FLNC):c.5672G>T (p.Gly1891Val) | 2318 | FLNC | Uncertain significance | -1 | RCV003052270; | N | 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 | 7 | 128491512 | 128491512 | | | NC_000007.13:g.128491512G>T | - | | | NM_001458.5(FLNC):c.5677_5682del (p.Ser1893_Leu1894del) | 2318 | FLNC | Uncertain significance | 1425063581 | RCV001321089; | N | 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 | 7 | 128491514 | 128491519 | | | 128491513 | - | | | NM_001458.5(FLNC):c.5676dup (p.Ser1893fs) | 2318 | FLNC | Pathogenic | -1 | RCV002999735; | N | 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 | 7 | 128491515 | 128491516 | | | NC_000007.13:g.128491516dup | - | | | NM_001458.5(FLNC):c.5676G>A (p.Leu1892=) | 2318 | FLNC | Likely benign | 1479099872 | RCV002122051; | N | 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 | 7 | 128491516 | 128491516 | | | 128491516 | - | | | NM_001458.5(FLNC):c.5683G>C (p.Ala1895Pro) | 2318 | FLNC | Uncertain significance | 2128938435 | RCV001942440; | N | 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 | 7 | 128491523 | 128491523 | | | 128491523 | - | | | NM_001458.5(FLNC):c.5685del (p.Val1896fs) | 2318 | FLNC | Pathogenic/Likely pathogenic | 1808809268 | RCV001256680|RCV002568754; | N | MONDO: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,O | 7 | 128491524 | 128491524 | | | 7:g.128491524_128491524del | - | | | NM_001458.5(FLNC):c.5685C>T (p.Ala1895=) | 2318 | FLNC | Likely benign | 1219372997 | RCV001425662|RCV002350834; | N | 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:CN230736 | 7 | 128491525 | 128491525 | | | 128491525 | - | | | NM_001458.5(FLNC):c.5686G>A (p.Val1896Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 891651799 | RCV000649144|RCV000788647|RCV002343338; | N | 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:CN517202|MedGen:CN230736 | 7 | 128491526 | 128491526 | | | NC_000007.13:g.128491526G>A | ClinGen:CA166188974 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5693G>A (p.Gly1898Asp) | 2318 | FLNC | Uncertain significance | 1808809802 | RCV001313732; | N | 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 | 7 | 128491533 | 128491533 | | | 128491533 | - | | | NM_001458.5(FLNC):c.5697dup (p.Ser1900fs) | 2318 | FLNC | Pathogenic | 1554400700 | RCV000649181; | N | 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 | 7 | 128491536 | 128491537 | | | 7:g.128491536_128491537insA | ClinGen:CA658797015 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5696C>T (p.Pro1899Leu) | 2318 | FLNC | Uncertain significance | -1 | RCV002580851; | N | 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 | 7 | 128491536 | 128491536 | | | NC_000007.13:g.128491536C>T | - | | | NM_001458.5(FLNC):c.5697A>G (p.Pro1899=) | 2318 | FLNC | Likely benign | 1585166641 | RCV000982123; | N | 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 | 7 | 128491537 | 128491537 | | | 7:g.128491537A>G | - | | | NM_001458.5(FLNC):c.5700_5701insTGT (p.Ser1900_Lys1901insCys) | 2318 | FLNC | Uncertain significance | -1 | RCV002823958; | N | 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 | 7 | 128491540 | 128491541 | | | NC_000007.13:g.128491540_128491541insTGT | - | | | NM_001458.5(FLNC):c.5703G>A (p.Lys1901=) | 2318 | FLNC | Likely benign | 1440069448 | RCV001858594; | N | 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 | 7 | 128491543 | 128491543 | | | 7:g.128491543G>A | - | | | NM_001458.5(FLNC):c.5709G>A (p.Glu1903=) | 2318 | FLNC | Likely benign | 1279073825 | RCV000649243; | N | 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 | 7 | 128491549 | 128491549 | | | NC_000007.13:g.128491549G>A | ClinGen:CA457849154 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5709G>T (p.Glu1903Asp) | 2318 | FLNC | Uncertain significance | 1279073825 | RCV001066422; | N | 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 | 7 | 128491549 | 128491549 | | | 7:g.128491549G>T | - | | | NM_001458.5(FLNC):c.5713A>G (p.Thr1905Ala) | 2318 | FLNC | Uncertain significance | 1808810815 | RCV001317176; | N | 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 | 7 | 128491553 | 128491553 | | | 128491553 | - | | | NM_001458.5(FLNC):c.5716T>C (p.Cys1906Arg) | 2318 | FLNC | Uncertain significance | 1585166667 | RCV000811016; | N | 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 | 7 | 128491556 | 128491556 | | | 7:g.128491556T>C | - | | | NM_001458.5(FLNC):c.5724CAA[1] (p.Asn1909del) | 2318 | FLNC | Uncertain significance | 780830196 | RCV001037718; | N | 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 | 7 | 128491563 | 128491565 | | | 7:g.128491563_128491565del | - | | | NM_001458.5(FLNC):c.5723A>C (p.Asp1908Ala) | 2318 | FLNC | Uncertain significance | 2128938447 | RCV001373935; | N | 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 | 7 | 128491563 | 128491563 | | | 128491563 | - | | | NM_001458.5(FLNC):c.5724C>A (p.Asp1908Glu) | 2318 | FLNC | Uncertain significance | 2128938449 | RCV001983204|RCV002344120; | N | 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:CN230736 | 7 | 128491564 | 128491564 | | | 128491564 | - | | | NM_001458.5(FLNC):c.5727C>T (p.Asn1909=) | 2318 | FLNC | Likely benign | 771291072 | RCV001464164; | N | 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 | 7 | 128491567 | 128491567 | | | 128491567 | - | | | NM_001458.5(FLNC):c.5727C>A (p.Asn1909Lys) | 2318 | FLNC | Uncertain significance | -1 | RCV003054775; | N | 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 | 7 | 128491567 | 128491567 | | | NC_000007.13:g.128491567C>A | - | | | NM_001458.5(FLNC):c.5733dup (p.Gly1912fs) | 2318 | FLNC | Pathogenic | 2128938455 | RCV001383974; | N | 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 | 7 | 128491572 | 128491573 | | | 128491572 | - | | | NM_001458.5(FLNC):c.5733T>C (p.Asp1911=) | 2318 | FLNC | Likely benign | -1 | RCV002917254; | N | 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 | 7 | 128491573 | 128491573 | | | | - | | | NM_001458.5(FLNC):c.5736C>A (p.Gly1912=) | 2318 | FLNC | Likely benign | -1 | RCV002770140; | N | 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 | 7 | 128491576 | 128491576 | | | | - | | | NM_001458.5(FLNC):c.5742C>T (p.Cys1914=) | 2318 | FLNC | Likely benign | 1808812204 | RCV001413796; | N | 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 | 7 | 128491582 | 128491582 | | | 128491582 | - | | | NM_001458.5(FLNC):c.5745C>T (p.Thr1915=) | 2318 | FLNC | Likely benign | 369449907 | RCV002068680|RCV002346109; | N | 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 | 7 | 128491585 | 128491585 | | | 7:g.128491585C>T | - | | | NM_001458.5(FLNC):c.5745C>G (p.Thr1915=) | 2318 | FLNC | Likely benign | 369449907 | RCV002192517; | N | 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 | 7 | 128491585 | 128491585 | | | 128491585 | - | | | NM_001458.5(FLNC):c.5746G>A (p.Val1916Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 763551371 | RCV000693748|RCV003144523; | N | 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:CN517202 | 7 | 128491586 | 128491586 | | | 7:g.128491586G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5750C>G (p.Ser1917Cys) | 2318 | FLNC | Uncertain significance | -1 | RCV003031818; | N | 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 | 7 | 128491590 | 128491590 | | | NC_000007.13:g.128491590C>G | - | | | NM_001458.5(FLNC):c.5753A>G (p.Tyr1918Cys) | 2318 | FLNC | Uncertain significance | 1808812647 | RCV001325767; | N | 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 | 7 | 128491593 | 128491593 | | | 128491593 | - | | | NM_001458.5(FLNC):c.5754T>C (p.Tyr1918=) | 2318 | FLNC | Likely benign | 764539989 | RCV000535762; | N | 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 | 7 | 128491594 | 128491594 | | | 7:g.128491594T>C | ClinGen:CA4475771 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5754T>A (p.Tyr1918Ter) | 2318 | FLNC | Pathogenic/Likely pathogenic | 764539989 | RCV000598899|RCV001854127; | N | MedGen: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 | 7 | 128491594 | 128491594 | | | 7:g.128491594T>A | ClinGen:CA369208313 | CN517202 not provided; | | NM_001458.5(FLNC):c.5758C>A (p.Pro1920Thr) | 2318 | FLNC | Uncertain significance | 751937921 | RCV001317230|RCV001587337|RCV002350582; | N | 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:CN517202|MedGen:CN230736 | 7 | 128491598 | 128491598 | | | 128491598 | - | | | NM_001458.5(FLNC):c.5760G>A (p.Pro1920=) | 2318 | FLNC | Likely benign | 375912712 | RCV000952125|RCV002346159; | N | 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 | 7 | 128491600 | 128491600 | | | 7:g.128491600G>A | - | | | NM_001458.5(FLNC):c.5763T>C (p.Thr1921=) | 2318 | FLNC | Benign | 3816884 | RCV000117079|RCV000711691|RCV001520071|RCV002354299; | N | MedGen: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:CN230736 | 7 | 128491603 | 128491603 | | | 7:g.128491603T>C | ClinGen:CA152871 | CN169374 not specified; | | NM_001458.5(FLNC):c.5763_5764inv (p.Ala1922Thr) | 2318 | FLNC | Conflicting interpretations of pathogenicity | -1 | RCV000547380|RCV001508595|RCV002358571; | N | 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:CN230736 | 7 | 128491603 | 128491604 | | | NC_000007.13:g.128491603_128491604inv | ClinGen:CA658657723 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5763del (p.Ala1922fs) | 2318 | FLNC | Pathogenic | -1 | RCV003055368; | N | 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 | 7 | 128491603 | 128491603 | | | NC_000007.13:g.128491603del | - | | | NM_001458.5(FLNC):c.5764G>A (p.Ala1922Thr) | 2318 | FLNC | Benign | 202128602 | RCV000355985|RCV000842225|RCV001078596|RCV002356383; | N | MedGen: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:CN230736 | 7 | 128491604 | 128491604 | | | 7:g.128491604G>A | ClinGen:CA4475776 | CN169374 not specified; | | NM_001458.5(FLNC):c.5765C>T (p.Ala1922Val) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 377206490 | RCV001916797|RCV002352586|RCV003150470; | N | 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:614065, Orphanet:63273|MedGen:CN230736|Human Phenotype Ontology:HP:000 | 7 | 128491605 | 128491605 | | | 128491605 | - | | | NM_001458.5(FLNC):c.5766G>A (p.Ala1922=) | 2318 | FLNC | Benign/Likely benign | 58914363 | RCV000241629|RCV000527971|RCV001697721|RCV002356345; | N | MedGen: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:CN230736 | 7 | 128491606 | 128491606 | | | NC_000007.13:g.128491606G>A | ClinGen:CA4475779 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5770G>A (p.Gly1924Arg) | 2318 | FLNC | Uncertain significance | 1585166739 | RCV000810473|RCV002352405; | N | 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 | 7 | 128491610 | 128491610 | | | 7:g.128491610G>A | - | | | NM_001458.5(FLNC):c.5776T>G (p.Tyr1926Asp) | 2318 | FLNC | Uncertain significance | 1808814546 | RCV001203874; | N | 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 | 7 | 128491616 | 128491616 | | | 7:g.128491616T>G | - | | | NM_001458.5(FLNC):c.5777A>G (p.Tyr1926Cys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 376653815 | RCV000540690|RCV002358572; | N | 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:CN230736 | 7 | 128491617 | 128491617 | | | NC_000007.13:g.128491617A>G | ClinGen:CA4475780 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5779A>G (p.Ser1927Gly) | 2318 | FLNC | Uncertain significance | 369518785 | RCV001876877|RCV003325586; | N | 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 | 7 | 128491619 | 128491619 | | | 128491619 | - | | | NM_001458.5(FLNC):c.5787C>T (p.Ile1929=) | 2318 | FLNC | Likely benign | 377063332 | RCV000649210|RCV001698104|RCV002358716; | N | 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:C3661900|MedGen:CN230736 | 7 | 128491627 | 128491627 | | | 7:g.128491627C>T | ClinGen:CA4475782 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5788G>A (p.Val1930Met) | 2318 | FLNC | Uncertain significance | 370076553 | RCV001297384; | N | 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 | 7 | 128491628 | 128491628 | | | 128491628 | - | | | NM_001458.5(FLNC):c.5789_5790del (p.Val1930fs) | 2318 | FLNC | Pathogenic | -1 | RCV002972324; | N | 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 | 7 | 128491628 | 128491629 | | | NC_000007.13:g.128491629_128491630del | - | | | NM_001458.5(FLNC):c.5791C>T (p.Arg1931Cys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 562155863 | RCV000519642|RCV000649148|RCV002358418; | N | MedGen: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 | 7 | 128491631 | 128491631 | | | 7:g.128491631C>T | ClinGen:CA4475785 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5792G>A (p.Arg1931His) | 2318 | FLNC | Uncertain significance | 780685346 | RCV000548628|RCV000764687|RCV001755877; | N | 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:MONDO:0012289,MedGen:C1836050,OMIM:609524 | 7 | 128491632 | 128491632 | | | 7:g.128491632G>A | ClinGen:CA369208463 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5792G>T (p.Arg1931Leu) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 780685346 | RCV000649159|RCV001662705|RCV002358860; | N | 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:C3661900|MedGen:CN230736 | 7 | 128491632 | 128491632 | | | 7:g.128491632G>T | ClinGen:CA4475786 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5793C>G (p.Arg1931=) | 2318 | FLNC | Likely benign | 374631384 | RCV000649098; | N | 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 | 7 | 128491633 | 128491633 | | | 7:g.128491633C>G | ClinGen:CA457849245 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5793C>T (p.Arg1931=) | 2318 | FLNC | Likely benign | 374631384 | RCV001429002; | N | 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 | 7 | 128491633 | 128491633 | | | 128491633 | - | | | NM_001458.5(FLNC):c.5796C>T (p.Phe1932=) | 2318 | FLNC | Likely benign | 572337697 | RCV000524914|RCV002358573; | N | 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:CN230736 | 7 | 128491636 | 128491636 | | | 7:g.128491636C>T | ClinGen:CA4475788 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5797G>A (p.Asp1933Asn) | 2318 | FLNC | Uncertain significance | 762297336 | RCV000649078; | N | 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 | 7 | 128491637 | 128491637 | | | NC_000007.13:g.128491637G>A | ClinGen:CA4475790 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5803A>G (p.Lys1935Glu) | 2318 | FLNC | Uncertain significance | 1808817011 | RCV001216669; | N | 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 | 7 | 128491643 | 128491643 | | | 7:g.128491643A>G | - | | | NM_001458.5(FLNC):c.5805G>A (p.Lys1935=) | 2318 | FLNC | Likely benign | 759262897 | RCV000499808|RCV000874221|RCV002358386; | N | 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:CN239310|MedGen:CN230736 | 7 | 128491645 | 128491645 | | | NC_000007.13:g.128491645G>A | ClinGen:CA4475792 | CN169374 not specified; | | NM_001458.5(FLNC):c.5807A>C (p.His1936Pro) | 2318 | FLNC | Uncertain significance | 1454768847 | RCV001041022; | N | 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 | 7 | 128491647 | 128491647 | | | 7:g.128491647A>C | - | | | NM_001458.5(FLNC):c.5808C>T (p.His1936=) | 2318 | FLNC | Likely benign | 2128938491 | RCV002072841; | N | 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 | 7 | 128491648 | 128491648 | | | 128491648 | - | | | NM_001458.5(FLNC):c.5810T>A (p.Ile1937Asn) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1585166795 | RCV000788797|RCV001373811; | N | MedGen: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 | 7 | 128491650 | 128491650 | | | 7:g.128491650T>A | - | | | NM_001458.5(FLNC):c.5813C>T (p.Pro1938Leu) | 2318 | FLNC | Uncertain significance | 764747370 | RCV000649065; | N | 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 | 7 | 128491653 | 128491653 | | | NC_000007.13:g.128491653C>T | ClinGen:CA369208563 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5814G>A (p.Pro1938=) | 2318 | FLNC | Likely benign | 752263141 | RCV001481309|RCV002354853; | N | 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:CN230736 | 7 | 128491654 | 128491654 | | | 7:g.128491654G>A | - | | | NM_001458.5(FLNC):c.5814G>C (p.Pro1938=) | 2318 | FLNC | Likely benign | 752263141 | RCV001499415; | N | 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 | 7 | 128491654 | 128491654 | | | 128491654 | - | | | NM_001458.5(FLNC):c.5819G>T (p.Ser1940Ile) | 2318 | FLNC | Uncertain significance | 2128938494 | RCV002019046; | N | 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 | 7 | 128491659 | 128491659 | | | 128491659 | - | | | NM_001458.5(FLNC):c.5822C>T (p.Pro1941Leu) | 2318 | FLNC | Uncertain significance | 1808818042 | RCV001034967; | N | 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 | 7 | 128491662 | 128491662 | | | 7:g.128491662C>T | - | | | NM_001458.5(FLNC):c.5823C>T (p.Pro1941=) | 2318 | FLNC | Likely benign | -1 | RCV002602679; | N | 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 | 7 | 128491663 | 128491663 | | | | - | | | NM_001458.5(FLNC):c.5826C>G (p.Phe1942Leu) | 2318 | FLNC | Uncertain significance | 567779611 | RCV001364951; | N | 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 | 7 | 128491666 | 128491666 | | | 128491666 | - | | | NM_001458.5(FLNC):c.5826C>T (p.Phe1942=) | 2318 | FLNC | Likely benign | 567779611 | RCV002110565; | N | 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 | 7 | 128491666 | 128491666 | | | 128491666 | - | | | NM_001458.5(FLNC):c.5828C>T (p.Thr1943Ile) | 2318 | FLNC | Uncertain significance | 376413798 | RCV000541901|RCV002358574|RCV002470908|RCV003150273|RCV003144357; | N | 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|MONDO:MONDO:0014883,MedGen:C431 | 7 | 128491668 | 128491668 | | | 7:g.128491668C>T | ClinGen:CA4475796 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5829A>G (p.Thr1943=) | 2318 | FLNC | Likely benign | 2128938497 | RCV002088581|RCV002352833; | N | 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:CN230736 | 7 | 128491669 | 128491669 | | | 128491669 | - | | | NM_001458.5(FLNC):c.5832C>A (p.Ala1944=) | 2318 | FLNC | Likely benign | -1 | RCV002886281; | N | 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 | 7 | 128491672 | 128491672 | | | | - | | | NM_001458.5(FLNC):c.5836A>G (p.Ile1946Val) | 2318 | FLNC | Uncertain significance | 2128938499 | RCV001894088; | N | 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 | 7 | 128491676 | 128491676 | | | 128491676 | - | | | NM_001458.5(FLNC):c.5837T>C (p.Ile1946Thr) | 2318 | FLNC | Uncertain significance | 1808818903 | RCV001059987; | N | 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 | 7 | 128491677 | 128491677 | | | 7:g.128491677T>C | - | | | NM_001458.5(FLNC):c.5842+1G>A | 2318 | FLNC | Likely pathogenic | 2128938502 | RCV002006519; | N | 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 | 7 | 128491683 | 128491683 | | | 128491683 | - | | | NM_001458.5(FLNC):c.5842+2T>G | 2318 | FLNC | Likely pathogenic | 2128938503 | RCV001379398; | N | 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 | 7 | 128491684 | 128491684 | | | 128491684 | - | | | NM_001458.5(FLNC):c.5842+3G>A | 2318 | FLNC | Uncertain significance | 2128938504 | RCV001939044; | N | 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:614065, Orphanet:63273 | 7 | 128491685 | 128491685 | | | 128491685 | - | | | NM_001458.5(FLNC):c.5842+5G>C | 2318 | FLNC | Uncertain significance | 1254947768 | RCV001955485; | N | 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 | 7 | 128491687 | 128491687 | | | 128491687 | - | | | NM_001458.5(FLNC):c.5842+6G>A | 2318 | FLNC | Uncertain significance | 1010018310 | RCV001212010; | N | 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 | 7 | 128491688 | 128491688 | | | 7:g.128491688G>A | - | | | NM_001458.5(FLNC):c.5842+7C>T | 2318 | FLNC | Likely benign | 370905549 | RCV000875636; | N | 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 | 7 | 128491689 | 128491689 | | | 7:g.128491689C>T | - | | | NM_001458.5(FLNC):c.5842+8G>A | 2318 | FLNC | Benign/Likely benign | 781168906 | RCV000554648|RCV003311841; | N | 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:C3661900 | 7 | 128491690 | 128491690 | | | 7:g.128491690G>A | ClinGen:CA4475799 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5842+11T>G | 2318 | FLNC | Likely benign | 998829059 | RCV002015075; | N | 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 | 7 | 128491693 | 128491693 | | | 128491693 | - | | | NM_001458.5(FLNC):c.5842+12G>A | 2318 | FLNC | Likely benign | 745604311 | RCV002166785|RCV002498114; | N | 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|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047 | 7 | 128491694 | 128491694 | | | 128491694 | - | | | NM_001458.5(FLNC):c.5842+13T>A | 2318 | FLNC | Likely benign | -1 | RCV002806842; | N | 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 | 7 | 128491695 | 128491695 | | | NC_000007.13:g.128491695T>A | - | | | NM_001458.5(FLNC):c.5842+14A>T | 2318 | FLNC | Likely benign | -1 | RCV002620341; | N | 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 | 7 | 128491696 | 128491696 | | | NC_000007.13:g.128491696A>T | - | | | NM_001458.5(FLNC):c.5842+17G>A | 2318 | FLNC | Benign/Likely benign | 374289007 | RCV000605442|RCV002066634; | N | MedGen: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 | 7 | 128491699 | 128491699 | | | 7:g.128491699G>A | ClinGen:CA4475802 | CN169374 not specified; | | NM_001458.5(FLNC):c.5842+20A>G | 2318 | FLNC | Likely benign | 749524553 | RCV002136248; | N | 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 | 7 | 128491702 | 128491702 | | | 128491702 | - | | | NM_001458.5(FLNC):c.5843-17C>T | 2318 | FLNC | Likely benign | -1 | RCV003034432; | N | 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 | 7 | 128492628 | 128492628 | | | NC_000007.13:g.128492628C>T | - | | | NC_000007.14:g.(?_128852581)_(128858533_?)del | 2318 | FLNC | Uncertain significance | -1 | RCV000808635; | N | 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 | 7 | 128492635 | 128498587 | | | | - | | | NM_001458.5(FLNC):c.5843-10C>G | 2318 | FLNC | Likely benign | -1 | RCV002877111; | N | 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 | 7 | 128492635 | 128492635 | | | NC_000007.13:g.128492635C>G | - | | | NM_001458.5(FLNC):c.5843-7C>T | 2318 | FLNC | Likely benign | 749562962 | RCV002178885; | N | 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 | 7 | 128492638 | 128492638 | | | 128492638 | - | | | NM_001458.5(FLNC):c.5843-6C>G | 2318 | FLNC | Benign | 370264663 | RCV000921462; | N | 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 | 7 | 128492639 | 128492639 | | | 7:g.128492639C>G | - | | | NM_001458.5(FLNC):c.5843-4C>T | 2318 | FLNC | Likely benign | 2128938764 | RCV002210415; | N | 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 | 7 | 128492641 | 128492641 | | | 128492641 | - | | | NM_001458.5(FLNC):c.5843-2A>G | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1808866340 | RCV001046766|RCV002355020; | N | 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|MedGen:CN230736 | 7 | 128492643 | 128492643 | | | 7:g.128492643A>G | - | | | NM_001458.5(FLNC):c.5847T>C (p.Asp1949=) | 2318 | FLNC | Likely benign | 2128938766 | RCV001468150; | N | 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 | 7 | 128492649 | 128492649 | | | 128492649 | - | | | NM_001458.5(FLNC):c.5849A>G (p.Asp1950Gly) | 2318 | FLNC | Uncertain significance | -1 | RCV002610486; | N | 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 | 7 | 128492651 | 128492651 | | | NC_000007.13:g.128492651A>G | - | | | NM_001458.5(FLNC):c.5850C>T (p.Asp1950=) | 2318 | FLNC | Likely benign | 778996119 | RCV001496405; | N | 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 | 7 | 128492652 | 128492652 | | | 128492652 | - | | | NM_001458.5(FLNC):c.5854A>G (p.Met1952Val) | 2318 | FLNC | Uncertain significance | -1 | RCV002297476; | N | MONDO:MONDO: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 | 7 | 128492656 | 128492656 | | | 128492656 | - | | | NM_001458.5(FLNC):c.5866C>T (p.Gln1956Ter) | 2318 | FLNC | Pathogenic | 2128938768 | RCV001921308; | N | 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 | 7 | 128492668 | 128492668 | | | 128492668 | - | | | NM_001458.5(FLNC):c.5872A>T (p.Asn1958Tyr) | 2318 | FLNC | Uncertain significance | 567595947 | RCV000542213; | N | 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 | 7 | 128492674 | 128492674 | | | 7:g.128492674A>T | ClinGen:CA166189848 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5882C>T (p.Thr1961Ile) | 2318 | FLNC | Uncertain significance | 1808867682 | RCV001223164; | N | 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 | 7 | 128492684 | 128492684 | | | 7:g.128492684C>T | - | | | NM_001458.5(FLNC):c.5882C>G (p.Thr1961Ser) | 2318 | FLNC | Uncertain significance | -1 | RCV003007611; | N | 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 | 7 | 128492684 | 128492684 | | | NC_000007.13:g.128492684C>G | - | | | NM_001458.5(FLNC):c.5888C>T (p.Thr1963Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 772580545 | RCV000687414|RCV001528483|RCV002352124|RCV002470951; | N | 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:CN517202|MedGen:CN230736|MONDO:MONDO:001 | 7 | 128492690 | 128492690 | | | 7:g.128492690C>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5888C>A (p.Thr1963Lys) | 2318 | FLNC | Uncertain significance | 772580545 | RCV001051666; | N | 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 | 7 | 128492690 | 128492690 | | | 7:g.128492690C>A | - | | | NM_001458.5(FLNC):c.5889_5896dup (p.Ser1966fs) | 2318 | FLNC | Pathogenic | -1 | RCV002819860; | N | 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 | 7 | 128492690 | 128492691 | | | NC_000007.13:g.128492691_128492698dup | - | | | NM_001458.5(FLNC):c.5889G>A (p.Thr1963=) | 2318 | FLNC | Benign/Likely benign | 374743518 | RCV000827168|RCV001083683|RCV002358862|RCV002507114; | N | MedGen: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:001 | 7 | 128492691 | 128492691 | | | NC_000007.13:g.128492691G>A | ClinGen:CA4475826 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5892C>T (p.Asp1964=) | 2318 | FLNC | Benign/Likely benign | 747546440 | RCV000529774|RCV001653909|RCV002358575; | N | 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:CN517202|MedGen:CN230736 | 7 | 128492694 | 128492694 | | | NC_000007.13:g.128492694C>T | ClinGen:CA4475827 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5893G>A (p.Val1965Met) | 2318 | FLNC | Uncertain significance | 771255247 | RCV001052764; | N | 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 | 7 | 128492695 | 128492695 | | | 7:g.128492695G>A | - | | | NM_001458.5(FLNC):c.5894T>G (p.Val1965Gly) | 2318 | FLNC | Uncertain significance | 1585167670 | RCV000823509; | N | 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 | 7 | 128492696 | 128492696 | | | 7:g.128492696T>G | - | | | NM_001458.5(FLNC):c.5895G>C (p.Val1965=) | 2318 | FLNC | Likely benign | 2128938778 | RCV001423668; | N | 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 | 7 | 128492697 | 128492697 | | | 128492697 | - | | | NM_001458.5(FLNC):c.5904dup (p.Ile1969fs) | 2318 | FLNC | Pathogenic | 1585167678 | RCV000793322; | N | 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 | 7 | 128492705 | 128492706 | | | 7:g.128492705_128492706insG | - | | | NM_001458.5(FLNC):c.5903A>C (p.Lys1968Thr) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 777028481 | RCV001323703|RCV002357159; | N | 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 | 7 | 128492705 | 128492705 | | | 128492705 | - | | | NM_001458.5(FLNC):c.5906T>C (p.Ile1969Thr) | 2318 | FLNC | Uncertain significance | -1 | RCV003015882; | N | 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 | 7 | 128492708 | 128492708 | | | NC_000007.13:g.128492708T>C | - | | | NM_001458.5(FLNC):c.5909C>T (p.Thr1970Ile) | 2318 | FLNC | Uncertain significance | 1563002254 | RCV000693412; | N | 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 | 7 | 128492711 | 128492711 | | | NC_000007.13:g.128492711C>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5910C>T (p.Thr1970=) | 2318 | FLNC | Benign/Likely benign | 544613263 | RCV000554965|RCV001692181|RCV002358576; | N | 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:C3661900|MedGen:CN230736 | 7 | 128492712 | 128492712 | | | 7:g.128492712C>T | ClinGen:CA4475831 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5911G>A (p.Glu1971Lys) | 2318 | FLNC | Uncertain significance | -1 | RCV003095428; | N | 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 | 7 | 128492713 | 128492713 | | | NC_000007.13:g.128492713G>A | - | | | NM_001458.5(FLNC):c.5913G>A (p.Glu1971=) | 2318 | FLNC | Likely benign | 368751662 | RCV000649234|RCV002358865; | N | 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 | 7 | 128492715 | 128492715 | | | NC_000007.13:g.128492715G>A | ClinGen:CA4475832 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5915G>A (p.Ser1972Asn) | 2318 | FLNC | Uncertain significance | 761342219 | RCV001338336|RCV003294326; | N | 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:CN230736 | 7 | 128492717 | 128492717 | | | 128492717 | - | | | NM_001458.5(FLNC):c.5919T>A (p.Asp1973Glu) | 2318 | FLNC | Uncertain significance | 767053963 | RCV001888672|RCV003146303; | N | 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:C3661900 | 7 | 128492721 | 128492721 | | | 128492721 | - | | | NM_001458.5(FLNC):c.5920_5921del (p.Leu1974fs) | 2318 | FLNC | Pathogenic | -1 | RCV003028803; | N | 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 | 7 | 128492721 | 128492722 | | | NC_000007.13:g.128492722_128492723del | - | | | NM_001458.5(FLNC):c.5922G>T (p.Leu1974=) | 2318 | FLNC | Likely benign | 370900824 | RCV000879444|RCV002354712; | N | 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:CN230736 | 7 | 128492724 | 128492724 | | | 7:g.128492724G>T | - | | | NM_001458.5(FLNC):c.5935G>A (p.Ala1979Thr) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 766127245 | RCV001041652|RCV001585940|RCV002481889; | N | 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|MedGen:CN517202|MONDO:MONDO:0013550,MedGen:C327 | 7 | 128492737 | 128492737 | | | 7:g.128492737G>A | - | | | NM_001458.5(FLNC):c.5940C>T (p.Ser1980=) | 2318 | FLNC | Likely benign | -1 | RCV003072957; | N | 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 | 7 | 128492742 | 128492742 | | | NC_000007.13:g.128492742C>T | - | | | NM_001458.5(FLNC):c.5941A>G (p.Ile1981Val) | 2318 | FLNC | Uncertain significance | 1808870602 | RCV001319077; | N | 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 | 7 | 128492743 | 128492743 | | | 128492743 | - | | | NM_001458.5(FLNC):c.5944C>T (p.Arg1982Cys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 538779271 | RCV000878205|RCV002354708|RCV003145224; | N | 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|MedGen:C3661900 | 7 | 128492746 | 128492746 | | | 7:g.128492746C>T | - | | | NM_001458.5(FLNC):c.5945G>A (p.Arg1982His) | 2318 | FLNC | Uncertain significance | 375046429 | RCV001071542|RCV003425915|RCV003259085; | N | 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:C3661900|MeSH:D030342,MedGen:C0950123 | 7 | 128492747 | 128492747 | | | 7:g.128492747G>A | - | | | NM_001458.5(FLNC):c.5954C>T (p.Ser1985Leu) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 200415625 | RCV000649090|RCV000998922|RCV001089626|RCV002358857|RCV003420136; | N | 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:C3661900|Human Phenotype Ontology:HP:000 | 7 | 128492756 | 128492756 | | | 7:g.128492756C>T | ClinGen:CA4475842 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5955G>A (p.Ser1985=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 777895128 | RCV000706138|RCV000762482|RCV002352215; | N | 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:CN230736 | 7 | 128492757 | 128492757 | | | 7:g.128492757G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5961C>T (p.Asn1987=) | 2318 | FLNC | Likely benign | 747515045 | RCV001395302|RCV002357311; | N | 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:CN230736 | 7 | 128492763 | 128492763 | | | 128492763 | - | | | NM_001458.5(FLNC):c.5962G>A (p.Glu1988Lys) | 2318 | FLNC | Uncertain significance | 1288953274 | RCV001066452|RCV002355085; | N | 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 | 7 | 128492764 | 128492764 | | | 7:g.128492764G>A | - | | | NM_001458.5(FLNC):c.5967G>A (p.Glu1989=) | 2318 | FLNC | Likely benign | 2128938808 | RCV002149798; | N | 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 | 7 | 128492769 | 128492769 | | | 128492769 | - | | | NM_001458.5(FLNC):c.5978T>G (p.Leu1993Arg) | 2318 | FLNC | Uncertain significance | 1808872550 | RCV001066737|RCV001772296; | N | 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:CN517202 | 7 | 128492780 | 128492780 | | | 7:g.128492780T>G | - | | | NM_001458.5(FLNC):c.5979G>T (p.Leu1993=) | 2318 | FLNC | Likely benign | -1 | RCV002889705; | N | 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 | 7 | 128492781 | 128492781 | | | | - | | | NM_001458.5(FLNC):c.5983del (p.Arg1995fs) | 2318 | FLNC | Pathogenic | 1808872966 | RCV001212343; | N | 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 | 7 | 128492785 | 128492785 | | | 7:g.128492785_128492785del | - | | | NM_001458.5(FLNC):c.5983C>T (p.Arg1995Cys) | 2318 | FLNC | Likely benign | 1303027892 | RCV001938586; | N | 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 | 7 | 128492785 | 128492785 | | | 128492785 | - | | | NM_001458.5(FLNC):c.5984G>A (p.Arg1995His) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 371508414 | RCV000543732|RCV002491081|RCV003159898; | N | 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:MONDO:0012289,MedGen:C1836050,OMIM:609524 | 7 | 128492786 | 128492786 | | | 7:g.128492786G>A | ClinGen:CA4475846 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5990C>T (p.Pro1997Leu) | 2318 | FLNC | Uncertain significance | -1 | RCV002928355; | N | 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 | 7 | 128492792 | 128492792 | | | NC_000007.13:g.128492792C>T | - | | | NM_001458.5(FLNC):c.5995C>T (p.Arg1999Trp) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 746182820 | RCV001051950|RCV002355036|RCV003396672; | N | 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| | 7 | 128492797 | 128492797 | | | 7:g.128492797C>T | - | | | NM_001458.5(FLNC):c.5996G>A (p.Arg1999Gln) | 2318 | FLNC | Uncertain significance | 1346364708 | RCV000560676|RCV001332011|RCV002497177; | N | 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:MONDO:0012289,MedGen:C1836050,OMIM:609524 | 7 | 128492798 | 128492798 | | | 7:g.128492798G>A | ClinGen:CA369210793 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5997G>A (p.Arg1999=) | 2318 | FLNC | Likely benign | 1554400935 | RCV000649222; | N | 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 | 7 | 128492799 | 128492799 | | | 7:g.128492799G>A | ClinGen:CA457849400 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.5999A>C (p.His2000Pro) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 572095826 | RCV001342036|RCV003365344; | N | MONDO:MONDO: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:CN230736 | 7 | 128492801 | 128492801 | | | 128492801 | - | | | NM_001458.5(FLNC):c.6000C>G (p.His2000Gln) | 2318 | FLNC | Uncertain significance | 1254027067 | RCV001295157|RCV002357078; | N | 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 | 7 | 128492802 | 128492802 | | | 128492802 | - | | | NM_001458.5(FLNC):c.6002T>C (p.Ile2001Thr) | 2318 | FLNC | Uncertain significance | 1554400940 | RCV000544963|RCV002358577; | N | 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:CN230736 | 7 | 128492804 | 128492804 | | | 7:g.128492804T>C | ClinGen:CA369210816 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6004+3G>A | 2318 | FLNC | Uncertain significance | -1 | RCV003091690; | N | 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 | 7 | 128492809 | 128492809 | | | NC_000007.13:g.128492809G>A | - | | | NM_001458.5(FLNC):c.6004+6C>T | 2318 | FLNC | Uncertain significance | 761548420 | RCV001307250; | N | 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 | 7 | 128492812 | 128492812 | | | 128492812 | - | | | NM_001458.5(FLNC):c.6004+7G>A | 2318 | FLNC | Likely benign | 771535289 | RCV001446955; | N | 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 | 7 | 128492813 | 128492813 | | | 128492813 | - | | | NM_001458.5(FLNC):c.6004+7G>C | 2318 | FLNC | Likely benign | 771535289 | RCV002084644; | N | 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 | 7 | 128492813 | 128492813 | | | 128492813 | - | | | NM_001458.5(FLNC):c.6004+12dup | 2318 | FLNC | Benign | 755640637 | RCV001512997; | N | 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 | 7 | 128492814 | 128492815 | | | 128492814 | - | | | NM_001458.5(FLNC):c.6004+10G>A | 2318 | FLNC | Likely benign | 2128938830 | RCV002189783; | N | 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 | 7 | 128492816 | 128492816 | | | 128492816 | - | | | NM_001458.5(FLNC):c.6004+11G>A | 2318 | FLNC | Benign | 117653869 | RCV000250292|RCV001795444|RCV002058058; | N | MedGen: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 | 7 | 128492817 | 128492817 | | | NC_000007.13:g.128492817G>A | ClinGen:CA4475853 | CN169374 not specified; | | NM_001458.5(FLNC):c.6004+18C>T | 2318 | FLNC | Likely benign | -1 | RCV003084350; | N | 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 | 7 | 128492824 | 128492824 | | | NC_000007.13:g.128492824C>T | - | | | NM_001458.5(FLNC):c.6004+19G>A | 2318 | FLNC | Benign | 12530507 | RCV000242267|RCV001573135|RCV002058059; | N | MedGen: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:63273 | 7 | 128492825 | 128492825 | | | 7:g.128492825G>A | ClinGen:CA4475855 | CN169374 not specified; | | NM_001458.5(FLNC):c.6005-14C>G | 2318 | FLNC | Uncertain significance | 1012108263 | RCV001882198; | N | 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 | 7 | 128492868 | 128492868 | | | 128492868 | - | | | NM_001458.5(FLNC):c.6005-11A>T | 2318 | FLNC | Likely benign | -1 | RCV003060378; | N | 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 | 7 | 128492871 | 128492871 | | | NC_000007.13:g.128492871A>T | - | | | NM_001458.5(FLNC):c.6005-9T>C | 2318 | FLNC | Benign | 118124743 | RCV000177903|RCV000556508|RCV001701779; | N | MedGen: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 | 7 | 128492873 | 128492873 | | | 7:g.128492873T>C | ClinGen:CA202655 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6005-7T>C | 2318 | FLNC | Likely benign | 1585167904 | RCV001498484; | N | 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 | 7 | 128492875 | 128492875 | | | 7:g.128492875T>C | - | | | NM_001458.5(FLNC):c.6005G>T (p.Gly2002Val) | 2318 | FLNC | Uncertain significance | 747796553 | RCV000695729; | N | 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 | 7 | 128492882 | 128492882 | | | NC_000007.13:g.128492882G>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6006G>C (p.Gly2002=) | 2318 | FLNC | Likely benign | 949178854 | RCV002217733; | N | 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 | 7 | 128492883 | 128492883 | | | 128492883 | - | | | NM_001458.5(FLNC):c.6008T>A (p.Ile2003Asn) | 2318 | FLNC | Uncertain significance | -1 | RCV002300104; | N | 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 | 7 | 128492885 | 128492885 | | | 128492885 | - | | | NM_001458.5(FLNC):c.6009C>A (p.Ile2003=) | 2318 | FLNC | Likely benign | 2128938866 | RCV002220390; | N | MONDO:MONDO: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 | 7 | 128492886 | 128492886 | | | 128492886 | - | | | NM_001458.5(FLNC):c.6015C>T (p.Phe2005=) | 2318 | FLNC | Likely benign | 771715893 | RCV000649196; | N | 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 | 7 | 128492892 | 128492892 | | | NC_000007.13:g.128492892C>T | ClinGen:CA4475870 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6020C>T (p.Pro2007Leu) | 2318 | FLNC | Uncertain significance | 2128938868 | RCV002021587; | N | 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 | 7 | 128492897 | 128492897 | | | 128492897 | - | | | NM_001458.5(FLNC):c.6022A>G (p.Lys2008Glu) | 2318 | FLNC | Uncertain significance | 772621794 | RCV000808433; | N | 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 | 7 | 128492899 | 128492899 | | | 7:g.128492899A>G | - | | | NM_001458.5(FLNC):c.6023A>G (p.Lys2008Arg) | 2318 | FLNC | Uncertain significance | -1 | RCV003035576; | N | 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 | 7 | 128492900 | 128492900 | | | NC_000007.13:g.128492900A>G | - | | | NM_001458.5(FLNC):c.6030C>T (p.Val2010=) | 2318 | FLNC | Likely benign | 375957769 | RCV001452972|RCV003298776; | N | 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 | 7 | 128492907 | 128492907 | | | 128492907 | - | | | NM_001458.5(FLNC):c.6031G>A (p.Gly2011Arg) | 2318 | FLNC | Pathogenic/Likely pathogenic | 1554400962 | RCV000549865|RCV000850350|RCV001770467; | N | 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:0001723,MONDO:MONDO | 7 | 128492908 | 128492908 | | | NC_000007.13:g.128492908G>A | ClinGen:CA369210984 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6036G>A (p.Glu2012=) | 2318 | FLNC | Likely benign | 1392711485 | RCV001468488|RCV003346224; | N | 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:CN230736 | 7 | 128492913 | 128492913 | | | 7:g.128492913G>A | - | | | NM_001458.5(FLNC):c.6039C>T (p.His2013=) | 2318 | FLNC | Likely benign | 776613969 | RCV001444105; | N | MONDO:MONDO: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 | 7 | 128492916 | 128492916 | | | 128492916 | - | | | NM_001458.5(FLNC):c.6040G>A (p.Val2014Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 772477251 | RCV000557717|RCV001584315|RCV003302868; | N | 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:CN230736 | 7 | 128492917 | 128492917 | | | 7:g.128492917G>A | ClinGen:CA4475875 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6040G>C (p.Val2014Leu) | 2318 | FLNC | Uncertain significance | 772477251 | RCV001342330; | N | 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 | 7 | 128492917 | 128492917 | | | 128492917 | - | | | NM_001458.5(FLNC):c.6041T>C (p.Val2014Ala) | 2318 | FLNC | Uncertain significance | 765064363 | RCV001042923|RCV001333945|RCV001759746|RCV002355006; | N | 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:0014883,MedGen:C4310749,OMIM:617047 | 7 | 128492918 | 128492918 | | | 7:g.128492918T>C | - | | | NM_001458.5(FLNC):c.6043G>A (p.Val2015Met) | 2318 | FLNC | Uncertain significance | 775231810 | RCV000815655|RCV003353054; | N | 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:CN230736 | 7 | 128492920 | 128492920 | | | 7:g.128492920G>A | - | | | NM_001458.5(FLNC):c.6048C>T (p.Ser2016=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 369991887 | RCV001447944|RCV002359002|RCV003150432; | N | 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 Phenotype Ontology:HP:000 | 7 | 128492925 | 128492925 | | | 128492925 | - | | | NM_001458.5(FLNC):c.6049G>A (p.Val2017Met) | 2318 | FLNC | Uncertain significance | 1019545678 | RCV001223978; | N | 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 | 7 | 128492926 | 128492926 | | | 7:g.128492926G>A | - | | | NM_001458.5(FLNC):c.6050T>G (p.Val2017Gly) | 2318 | FLNC | Uncertain significance | 2128938884 | RCV001901953; | N | 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 | 7 | 128492927 | 128492927 | | | 128492927 | - | | | NM_001458.5(FLNC):c.6052C>T (p.Arg2018Cys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1335627502 | RCV000799685|RCV002352350; | N | 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 | 7 | 128492929 | 128492929 | | | 7:g.128492929C>T | - | | | NM_001458.5(FLNC):c.6053G>A (p.Arg2018His) | 2318 | FLNC | Uncertain significance | 764326184 | RCV000534041|RCV002358578; | N | 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:CN230736 | 7 | 128492930 | 128492930 | | | 7:g.128492930G>A | ClinGen:CA4475879 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6054dup (p.Lys2019fs) | 2318 | FLNC | Pathogenic | -1 | RCV003022543; | N | 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 | 7 | 128492930 | 128492931 | | | NC_000007.13:g.128492931dup | - | | | NM_001458.5(FLNC):c.6057G>A (p.Lys2019=) | 2318 | FLNC | Likely benign | 1297126422 | RCV001456246|RCV002359019; | N | 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 | 7 | 128492934 | 128492934 | | | 128492934 | - | | | NM_001458.5(FLNC):c.6058A>T (p.Ser2020Cys) | 2318 | FLNC | Uncertain significance | 537114122 | RCV000649102; | N | 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 | 7 | 128492935 | 128492935 | | | NC_000007.13:g.128492935A>T | ClinGen:CA166190162 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6062G>A (p.Gly2021Asp) | 2318 | FLNC | Uncertain significance | 1439304519 | RCV002011367; | N | 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 | 7 | 128492939 | 128492939 | | | 128492939 | - | | | NM_001458.5(FLNC):c.6063C>G (p.Gly2021=) | 2318 | FLNC | Likely benign | 751601686 | RCV002352840|RCV002095369; | N | 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:63273 | 7 | 128492940 | 128492940 | | | 128492940 | - | | | NM_001458.5(FLNC):c.6068A>G (p.His2023Arg) | 2318 | FLNC | Uncertain significance | 1808882683 | RCV001771569|RCV001868625; | N | 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:171445 | 7 | 128492945 | 128492945 | | | 128492945 | - | | | NM_001458.5(FLNC):c.6071del (p.Val2024fs) | 2318 | FLNC | Pathogenic | 2128938894 | RCV001965139; | N | 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 | 7 | 128492948 | 128492948 | | | 128492947 | - | | | NM_001458.5(FLNC):c.6074C>T (p.Thr2025Ile) | 2318 | FLNC | Uncertain significance | 767695121 | RCV002014392|RCV002352743; | N | 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 | 7 | 128492951 | 128492951 | | | 128492951 | - | | | NM_001458.5(FLNC):c.6094C>G (p.Leu2032Val) | 2318 | FLNC | Uncertain significance | 773543205 | RCV001363081; | N | 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 | 7 | 128492971 | 128492971 | | | 128492971 | - | | | NM_001458.5(FLNC):c.6095T>C (p.Leu2032Pro) | 2318 | FLNC | Uncertain significance | 1554400980 | RCV000649162; | N | 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 | 7 | 128492972 | 128492972 | | | NC_000007.13:g.128492972T>C | ClinGen:CA369211229 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6099G>A (p.Val2033=) | 2318 | FLNC | Likely benign | -1 | RCV002903724; | N | 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 | 7 | 128492976 | 128492976 | | | | - | | | NM_001458.5(FLNC):c.6104C>T (p.Pro2035Leu) | 2318 | FLNC | Uncertain significance | 1808884606 | RCV001058670; | N | 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 | 7 | 128492981 | 128492981 | | | 7:g.128492981C>T | - | | | NM_001458.5(FLNC):c.6105A>G (p.Pro2035=) | 2318 | FLNC | Likely benign | 2128938904 | RCV002131530; | N | MONDO:MONDO: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 | 7 | 128492982 | 128492982 | | | 128492982 | - | | | NM_001458.5(FLNC):c.6106T>G (p.Ser2036Ala) | 2318 | FLNC | Uncertain significance | -1 | RCV003033633; | N | 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 | 7 | 128492983 | 128492983 | | | NC_000007.13:g.128492983T>G | - | | | NM_001458.5(FLNC):c.6111G>A (p.Glu2037=) | 2318 | FLNC | Likely benign | 746635805 | RCV001402592; | N | 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 | 7 | 128492988 | 128492988 | | | 128492988 | - | | | NM_001458.5(FLNC):c.6112A>C (p.Ile2038Leu) | 2318 | FLNC | Uncertain significance | 2128938907 | RCV001865050|RCV002359297; | N | 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 | 7 | 128492989 | 128492989 | | | 128492989 | - | | | NM_001458.5(FLNC):c.6114C>T (p.Ile2038=) | 2318 | FLNC | Benign/Likely benign | 559639511 | RCV000649228|RCV001087391|RCV002358864; | N | MedGen: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:CN230736 | 7 | 128492991 | 128492991 | | | 7:g.128492991C>T | ClinGen:CA4475890 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6114C>G (p.Ile2038Met) | 2318 | FLNC | Uncertain significance | 559639511 | RCV001996734; | N | 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 | 7 | 128492991 | 128492991 | | | 128492991 | - | | | NM_001458.5(FLNC):c.6115G>A (p.Gly2039Arg) | 2318 | FLNC | Uncertain significance | 1354394880 | RCV001910021; | N | 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 | 7 | 128492992 | 128492992 | | | 128492992 | - | | | NM_001458.5(FLNC):c.6120C>T (p.Asp2040=) | 2318 | FLNC | Benign | 116974302 | RCV000434684|RCV000711692|RCV001082058|RCV002356555; | N | MedGen: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:CN230736 | 7 | 128492997 | 128492997 | | | 7:g.128492997C>T | ClinGen:CA4475891 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6121G>C (p.Ala2041Pro) | 2318 | FLNC | Uncertain significance | 745842738 | RCV000649100|RCV002358858|RCV003144437; | N | 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:CN230736|MedGen:CN517202 | 7 | 128492998 | 128492998 | | | NC_000007.13:g.128492998G>C | ClinGen:CA4475892 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6121G>T (p.Ala2041Ser) | 2318 | FLNC | Uncertain significance | 745842738 | RCV001229752|RCV003398983; | N | 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| | 7 | 128492998 | 128492998 | | | 7:g.128492998G>T | - | | | NM_001458.5(FLNC):c.6121G>A (p.Ala2041Thr) | 2318 | FLNC | Uncertain significance | 745842738 | RCV001314822|RCV003365321; | N | 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 | 7 | 128492998 | 128492998 | | | 128492998 | - | | | NM_001458.5(FLNC):c.6122C>A (p.Ala2041Asp) | 2318 | FLNC | Uncertain significance | 1585168065 | RCV000810039; | N | 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 | 7 | 128492999 | 128492999 | | | 7:g.128492999C>A | - | | | NM_001458.5(FLNC):c.6123C>T (p.Ala2041=) | 2318 | FLNC | Likely benign | 769675272 | RCV001474288|RCV002359062|RCV001823775; | N | 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:CN230736|MedGen:CN169374 | 7 | 128493000 | 128493000 | | | 128493000 | - | | | NM_001458.5(FLNC):c.6132G>T (p.Val2044=) | 2318 | FLNC | Likely benign | 1808885875 | RCV001472525; | N | 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 | 7 | 128493009 | 128493009 | | | 128493009 | - | | | NM_001458.5(FLNC):c.6133C>A (p.Arg2045=) | 2318 | FLNC | Uncertain significance | 762748670 | RCV001348382; | N | 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 | 7 | 128493010 | 128493010 | | | 128493010 | - | | | NM_001458.5(FLNC):c.6134G>A (p.Arg2045Gln) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 747196571 | RCV000688063|RCV001592869|RCV002352127; | N | 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:CN517202|MedGen:CN230736 | 7 | 128493011 | 128493011 | | | 7:g.128493011G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6134G>C (p.Arg2045Pro) | 2318 | FLNC | Uncertain significance | -1 | RCV002710418; | N | 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 | 7 | 128493011 | 128493011 | | | NC_000007.13:g.128493011G>C | - | | | NM_001458.5(FLNC):c.6135G>C (p.Arg2045=) | 2318 | FLNC | Likely benign | 1585168080 | RCV001475592|RCV002505400; | N | MONDO:MONDO: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:609524 | 7 | 128493012 | 128493012 | | | 7:g.128493012G>C | - | | | NM_001458.5(FLNC):c.6136G>A (p.Val2046Ile) | 2318 | FLNC | Uncertain significance | -1 | RCV003117146; | N | 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 | 7 | 128493013 | 128493013 | | | NC_000007.13:g.128493013G>A | - | | | NM_001458.5(FLNC):c.6148G>A (p.Gly2050Arg) | 2318 | FLNC | Uncertain significance | 1585168103 | RCV000805113; | N | 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 | 7 | 128493025 | 128493025 | | | 7:g.128493025G>A | - | | | NM_001458.5(FLNC):c.6149G>A (p.Gly2050Glu) | 2318 | FLNC | Uncertain significance | 1261109029 | RCV000821464|RCV002352459; | N | 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:CN230736 | 7 | 128493026 | 128493026 | | | 7:g.128493026G>A | - | | | NM_001458.5(FLNC):c.6152T>G (p.Leu2051Arg) | 2318 | FLNC | Uncertain significance | 2128938929 | RCV001883778; | N | 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 | 7 | 128493029 | 128493029 | | | 128493029 | - | | | NM_001458.5(FLNC):c.6156C>T (p.Ser2052=) | 2318 | FLNC | Likely benign | 199750173 | RCV001482768; | N | 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 | 7 | 128493033 | 128493033 | | | 128493033 | - | | | NM_001458.5(FLNC):c.6157G>A (p.Glu2053Lys) | 2318 | FLNC | Uncertain significance | 761922251 | RCV001772396|RCV002032864|RCV003401681; | N | MedGen: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| | 7 | 128493034 | 128493034 | | | 128493034 | - | | | NM_001458.5(FLNC):c.6160G>A (p.Gly2054Arg) | 2318 | FLNC | Uncertain significance | 1808887627 | RCV001067770|RCV002355091; | N | 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 | 7 | 128493037 | 128493037 | | | 7:g.128493037G>A | - | | | NM_001458.5(FLNC):c.6166A>G (p.Thr2056Ala) | 2318 | FLNC | Uncertain significance | 1808887741 | RCV001313237; | N | 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 | 7 | 128493043 | 128493043 | | | 128493043 | - | | | NM_001458.5(FLNC):c.6168A>G (p.Thr2056=) | 2318 | FLNC | Likely benign | 1808887834 | RCV002164928; | N | 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 | 7 | 128493045 | 128493045 | | | 128493045 | - | | | NM_001458.5(FLNC):c.6170T>C (p.Phe2057Ser) | 2318 | FLNC | Uncertain significance | 1554400996 | RCV000551363; | N | 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 | 7 | 128493047 | 128493047 | | | 7:g.128493047T>C | ClinGen:CA369211516 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6173A>G (p.Gln2058Arg) | 2318 | FLNC | Uncertain significance | -1 | RCV002942494; | N | 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 | 7 | 128493050 | 128493050 | | | NC_000007.13:g.128493050A>G | - | | | NM_001458.5(FLNC):c.6175G>A (p.Val2059Met) | 2318 | FLNC | Benign/Likely benign | 201333104 | RCV000527428|RCV000578034|RCV000578087|RCV000577974|RCV001083558|RCV002356571; | N | MedGen: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:609524 | 7 | 128493052 | 128493052 | | | 7:g.128493052G>A | ClinGen:CA4475900 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6190dup (p.Val2064fs) | 2318 | FLNC | Pathogenic/Likely pathogenic | 1808888920 | RCV001045974|RCV001784595|RCV002355014; | N | 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|MedGen:CN517202|MedGen:CN230736 | 7 | 128493066 | 128493067 | | | 7:g.128493066_128493067insG | - | | | NM_001458.5(FLNC):c.6189C>T (p.Ile2063=) | 2318 | FLNC | Likely benign | 1408617446 | RCV001396312|RCV002357312; | N | 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 | 7 | 128493066 | 128493066 | | | 128493066 | - | | | NM_001458.5(FLNC):c.6189C>A (p.Ile2063=) | 2318 | FLNC | Uncertain significance | -1 | RCV003038222; | N | 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 | 7 | 128493066 | 128493066 | | | | - | | | NM_001458.5(FLNC):c.6190G>A (p.Val2064Met) | 2318 | FLNC | Uncertain significance | 756710545 | RCV001904639; | N | 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 | 7 | 128493067 | 128493067 | | | 128493067 | - | | | NM_001458.5(FLNC):c.6200G>A (p.Arg2067His) | 2318 | FLNC | Uncertain significance | 776520014 | RCV000522328|RCV000823001|RCV000852301; | N | MedGen: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:C327 | 7 | 128493077 | 128493077 | | | 7:g.128493077G>A | ClinGen:CA4475905 | CN169374 not specified; | | NM_001458.5(FLNC):c.6203A>G (p.Asn2068Ser) | 2318 | FLNC | Likely benign | 746724687 | RCV001909028; | N | 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 | 7 | 128493080 | 128493080 | | | 128493080 | - | | | NM_001458.5(FLNC):c.6204T>C (p.Asn2068=) | 2318 | FLNC | Likely benign | 756870900 | RCV000876871|RCV002363309|RCV003326500; | N | 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|MedGen:C3661900 | 7 | 128493081 | 128493081 | | | 7:g.128493081T>C | - | | | NM_001458.5(FLNC):c.6208G>A (p.Gly2070Ser) | 2318 | FLNC | Uncertain significance | -1 | RCV003062141; | N | 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 | 7 | 128493085 | 128493085 | | | NC_000007.13:g.128493085G>A | - | | | NM_001458.5(FLNC):c.6208+3A>G | 2318 | FLNC | Uncertain significance | 1585168169 | RCV001362158; | N | 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 | 7 | 128493088 | 128493088 | | | 128493088 | - | | | NM_001458.5(FLNC):c.6208+4C>T | 2318 | FLNC | Uncertain significance | 1554401011 | RCV000552655; | N | 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 | 7 | 128493089 | 128493089 | | | 7:g.128493089C>T | ClinGen:CA658657724 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6208+8C>T | 2318 | FLNC | Likely benign | 745328476 | RCV002143873; | N | 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 | 7 | 128493093 | 128493093 | | | 128493093 | - | | | NM_001458.5(FLNC):c.6208+12C>T | 2318 | FLNC | Likely benign | 769734177 | RCV002093678; | N | 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 | 7 | 128493097 | 128493097 | | | 128493097 | - | | | NM_001458.5(FLNC):c.6208+17dup | 2318 | FLNC | Likely benign | 1159094051 | RCV002164730; | N | 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 | 7 | 128493101 | 128493102 | | | 128493101 | - | | | NM_001458.5(FLNC):c.6208+19A>G | 2318 | FLNC | Likely benign | -1 | RCV002904253; | N | 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 | 7 | 128493104 | 128493104 | | | NC_000007.13:g.128493104A>G | - | | | NM_001458.5(FLNC):c.6209-18T>C | 2318 | FLNC | Likely benign | 1808910059 | RCV002116598; | N | 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 | 7 | 128493505 | 128493505 | | | 128493505 | - | | | NM_001458.5(FLNC):c.6209-12G>T | 2318 | FLNC | Likely benign | -1 | RCV002604445; | N | 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 | 7 | 128493511 | 128493511 | | | NC_000007.13:g.128493511G>T | - | | | NM_001458.5(FLNC):c.6209-12G>A | 2318 | FLNC | Likely benign | -1 | RCV003003108; | N | 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 | 7 | 128493511 | 128493511 | | | NC_000007.13:g.128493511G>A | - | | | NM_001458.5(FLNC):c.6209-10T>G | 2318 | FLNC | Likely benign | 377551753 | RCV001438630; | N | MONDO:MONDO: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 | 7 | 128493513 | 128493513 | | | 7:g.128493513T>G | - | | | NM_001458.5(FLNC):c.6209-4C>T | 2318 | FLNC | Likely benign | 752959773 | RCV000540164|RCV002358580; | N | 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:CN230736 | 7 | 128493519 | 128493519 | | | 7:g.128493519C>T | ClinGen:CA4475923 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6209-3C>G | 2318 | FLNC | Uncertain significance | 896971028 | RCV000649132|RCV001766403; | N | 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:CN517202 | 7 | 128493520 | 128493520 | | | 7:g.128493520C>G | ClinGen:CA166190591 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6209-1G>C | 2318 | FLNC | Likely pathogenic | -1 | RCV003018105; | N | 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 | 7 | 128493522 | 128493522 | | | NC_000007.13:g.128493522G>C | - | | | NM_001458.5(FLNC):c.6210T>C (p.Gly2070=) | 2318 | FLNC | Likely benign | 2128939065 | RCV001448117; | N | 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 | 7 | 128493524 | 128493524 | | | 128493524 | - | | | NM_001458.5(FLNC):c.6212A>G (p.Tyr2071Cys) | 2318 | FLNC | Uncertain significance | 2128939068 | RCV002045707; | N | 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 | 7 | 128493526 | 128493526 | | | 128493526 | - | | | NM_001458.5(FLNC):c.6214G>A (p.Gly2072Arg) | 2318 | FLNC | Uncertain significance | 2128939071 | RCV001943495; | N | 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:614065, Orphanet:63273 | 7 | 128493528 | 128493528 | | | 128493528 | - | | | NM_001458.5(FLNC):c.6216G>A (p.Gly2072=) | 2318 | FLNC | Likely benign | 200670345 | RCV001501484; | N | 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 | 7 | 128493530 | 128493530 | | | 128493530 | - | | | NM_001458.5(FLNC):c.6217G>T (p.Gly2073Cys) | 2318 | FLNC | Uncertain significance | 1366093926 | RCV001876403; | N | MONDO:MONDO: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 | 7 | 128493531 | 128493531 | | | 128493531 | - | | | NM_001458.5(FLNC):c.6218G>C (p.Gly2073Ala) | 2318 | FLNC | Uncertain significance | 922864783 | RCV001337325; | N | 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 | 7 | 128493532 | 128493532 | | | 128493532 | - | | | NM_001458.5(FLNC):c.6218G>A (p.Gly2073Asp) | 2318 | FLNC | Uncertain significance | -1 | RCV002761615; | N | 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 | 7 | 128493532 | 128493532 | | | NC_000007.13:g.128493532G>A | - | | | NM_001458.5(FLNC):c.6226C>T (p.Leu2076=) | 2318 | FLNC | Likely benign | 756921919 | RCV000877510|RCV001593114|RCV003169206|RCV003150368; | N | 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:CN517202|MedGen:CN230736|Human Phenotype | 7 | 128493540 | 128493540 | | | 7:g.128493540C>T | - | | | NM_001458.5(FLNC):c.6230G>A (p.Ser2077Asn) | 2318 | FLNC | Uncertain significance | -1 | RCV002593154; | N | 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 | 7 | 128493544 | 128493544 | | | NC_000007.13:g.128493544G>A | - | | | NM_001458.5(FLNC):c.6233T>C (p.Ile2078Thr) | 2318 | FLNC | Uncertain significance | 780762913 | RCV001242548|RCV001751481|RCV002366069|RCV002471054; | N | 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:CN517202|MedGen:CN230736|MONDO:MONDO:001 | 7 | 128493547 | 128493547 | | | 7:g.128493547T>C | - | | | NM_001458.5(FLNC):c.6238G>C (p.Gly2080Arg) | 2318 | FLNC | Uncertain significance | 1808912488 | RCV001297403; | N | 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 | 7 | 128493552 | 128493552 | | | 128493552 | - | | | NM_001458.5(FLNC):c.6242dup (p.Ser2082fs) | 2318 | FLNC | Pathogenic | 1585168573 | RCV000818589; | N | 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 | 7 | 128493553 | 128493554 | | | 7:g.128493553_128493554insC | - | | | NM_001458.5(FLNC):c.6239G>A (p.Gly2080Asp) | 2318 | FLNC | Uncertain significance | 2128939083 | RCV001980946|RCV002471213; | N | 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:614065, Orphanet:63273|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047 | 7 | 128493553 | 128493553 | | | 128493553 | - | | | NM_001458.5(FLNC):c.6240_6259del (p.Pro2081fs) | 2318 | FLNC | Pathogenic | 2128939085 | RCV001384943|RCV001545499; | N | 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:C3661900 | 7 | 128493554 | 128493573 | | | 128493553 | - | | | NM_001458.5(FLNC):c.6244A>C (p.Ser2082Arg) | 2318 | FLNC | Uncertain significance | 2128939089 | RCV002016968; | N | 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 | 7 | 128493558 | 128493558 | | | 128493558 | - | | | NM_001458.5(FLNC):c.6246C>T (p.Ser2082=) | 2318 | FLNC | Uncertain significance | 1554401089 | RCV000649156; | N | 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 | 7 | 128493560 | 128493560 | | | 7:g.128493560C>T | ClinGen:CA457585985 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6248A>C (p.Lys2083Thr) | 2318 | FLNC | Uncertain significance | 2128939092 | RCV002049765; | N | 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 | 7 | 128493562 | 128493562 | | | 128493562 | - | | | NM_001458.5(FLNC):c.6250G>T (p.Val2084Leu) | 2318 | FLNC | Uncertain significance | -1 | RCV002618125; | N | 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 | 7 | 128493564 | 128493564 | | | NC_000007.13:g.128493564G>T | - | | | NM_001458.5(FLNC):c.6251T>A (p.Val2084Glu) | 2318 | FLNC | Uncertain significance | 2128939097 | RCV001908349; | N | 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 | 7 | 128493565 | 128493565 | | | 128493565 | - | | | NM_001458.5(FLNC):c.6252G>A (p.Val2084=) | 2318 | FLNC | Likely benign | 1386646158 | RCV000533479; | N | 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 | 7 | 128493566 | 128493566 | | | NC_000007.13:g.128493566G>A | ClinGen:CA457586005 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6257T>C (p.Ile2086Thr) | 2318 | FLNC | Uncertain significance | 1808913302 | RCV001344665; | N | 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 | 7 | 128493571 | 128493571 | | | 128493571 | - | | | NM_001458.5(FLNC):c.6260A>T (p.Asn2087Ile) | 2318 | FLNC | Uncertain significance | -1 | RCV002297137; | N | MONDO:MONDO: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 | 7 | 128493574 | 128493574 | | | 128493574 | - | | | NM_001458.5(FLNC):c.6262T>C (p.Cys2088Arg) | 2318 | FLNC | Conflicting interpretations of pathogenicity | -1 | RCV002366728|RCV003103283; | N | MedGen: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:CN239310 | 7 | 128493576 | 128493576 | | | 128493576 | - | | | NM_001458.5(FLNC):c.6271A>G (p.Met2091Val) | 2318 | FLNC | Uncertain significance | 1438491751 | RCV001216733; | N | 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 | 7 | 128493585 | 128493585 | | | 7:g.128493585A>G | - | | | NM_001458.5(FLNC):c.6275A>G (p.Glu2092Gly) | 2318 | FLNC | Uncertain significance | 1808914162 | RCV001978709; | N | 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 | 7 | 128493589 | 128493589 | | | 128493589 | - | | | NM_001458.5(FLNC):c.6278A>C (p.Asp2093Ala) | 2318 | FLNC | Uncertain significance | 749292393 | RCV000690738|RCV003144508; | N | 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:CN517202 | 7 | 128493592 | 128493592 | | | 7:g.128493592A>C | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6279C>T (p.Asp2093=) | 2318 | FLNC | Likely benign | 370386782 | RCV000934481|RCV001558844|RCV002354797; | N | 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:CN517202|MedGen:CN230736 | 7 | 128493593 | 128493593 | | | 7:g.128493593C>T | - | | | NM_001458.5(FLNC):c.6280G>A (p.Gly2094Arg) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 188476936 | RCV001232176|RCV001751453; | N | MONDO:MONDO: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 | 7 | 128493594 | 128493594 | | | 7:g.128493594G>A | - | | | NM_001458.5(FLNC):c.6282G>C (p.Gly2094=) | 2318 | FLNC | Likely benign | 747894981 | RCV000943486|RCV002354827; | N | 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 | 7 | 128493596 | 128493596 | | | 7:g.128493596G>C | - | | | NM_001458.5(FLNC):c.6283A>G (p.Thr2095Ala) | 2318 | FLNC | Uncertain significance | 373022507 | RCV000800091|RCV003307454; | N | 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 | 7 | 128493597 | 128493597 | | | 7:g.128493597A>G | - | | | NM_001458.5(FLNC):c.6283A>T (p.Thr2095Ser) | 2318 | FLNC | Uncertain significance | 373022507 | RCV001313890|RCV003325560; | N | 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:CN517202 | 7 | 128493597 | 128493597 | | | 128493597 | - | | | NM_001458.5(FLNC):c.6285A>T (p.Thr2095=) | 2318 | FLNC | Likely benign | 2128939108 | RCV001484864; | N | 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 | 7 | 128493599 | 128493599 | | | 128493599 | - | | | NM_001458.5(FLNC):c.6292G>A (p.Val2098Ile) | 2318 | FLNC | Uncertain significance | 2128939110 | RCV001972033; | N | 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 | 7 | 128493606 | 128493606 | | | 128493606 | - | | | NM_001458.5(FLNC):c.6292G>C (p.Val2098Leu) | 2318 | FLNC | Uncertain significance | 2128939110 | RCV001980733; | N | 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 | 7 | 128493606 | 128493606 | | | 128493606 | - | | | NM_001458.5(FLNC):c.6296C>A (p.Thr2099Asn) | 2318 | FLNC | Uncertain significance | 771090404 | RCV001059226; | N | 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 | 7 | 128493610 | 128493610 | | | 7:g.128493610C>A | - | | | NM_001458.5(FLNC):c.6302G>A (p.Cys2101Tyr) | 2318 | FLNC | Uncertain significance | 760120511 | RCV002024972; | N | 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 | 7 | 128493616 | 128493616 | | | 128493616 | - | | | NM_001458.5(FLNC):c.6309C>T (p.Thr2103=) | 2318 | FLNC | Benign/Likely benign | 376992044 | RCV000177935|RCV000541382|RCV001573292|RCV002362909|RCV002503687; | N | MedGen: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:CN230736 | 7 | 128493623 | 128493623 | | | 7:g.128493623C>T | ClinGen:CA202665 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6310G>A (p.Glu2104Lys) | 2318 | FLNC | Uncertain significance | 753069149 | RCV000811040|RCV001772094; | N | 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:CN517202 | 7 | 128493624 | 128493624 | | | 7:g.128493624G>A | - | | | NM_001458.5(FLNC):c.6310G>C (p.Glu2104Gln) | 2318 | FLNC | Uncertain significance | 753069149 | RCV001294798; | N | 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 | 7 | 128493624 | 128493624 | | | 128493624 | - | | | NM_001458.5(FLNC):c.6312G>A (p.Glu2104=) | 2318 | FLNC | Likely benign | 979412217 | RCV001401573|RCV001568867|RCV002357330; | N | 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:CN230736 | 7 | 128493626 | 128493626 | | | 128493626 | - | | | NM_001458.5(FLNC):c.6315C>T (p.Pro2105=) | 2318 | FLNC | Likely benign | 764435558 | RCV000938951; | N | 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 | 7 | 128493629 | 128493629 | | | 7:g.128493629C>T | - | | | NM_001458.5(FLNC):c.6316G>A (p.Gly2106Ser) | 2318 | FLNC | Uncertain significance | -1 | RCV002988556; | N | 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 | 7 | 128493630 | 128493630 | | | NC_000007.13:g.128493630G>A | - | | | NM_001458.5(FLNC):c.6321C>G (p.Thr2107=) | 2318 | FLNC | Likely benign | 1417451523 | RCV001434198; | N | 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 | 7 | 128493635 | 128493635 | | | 128493635 | - | | | NM_001458.5(FLNC):c.6325A>G (p.Ile2109Val) | 2318 | FLNC | Uncertain significance | 755736125 | RCV000696525|RCV002360774; | N | 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 | 7 | 128493639 | 128493639 | | | NC_000007.13:g.128493639A>G | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6328A>G (p.Ile2110Val) | 2318 | FLNC | Uncertain significance | 1236042892 | RCV001899596; | N | 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 | 7 | 128493642 | 128493642 | | | 128493642 | - | | | NM_001458.5(FLNC):c.6345_6352del (p.Asp2116fs) | 2318 | FLNC | Pathogenic | 1808918080 | RCV001233108; | N | 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 | 7 | 128493657 | 128493664 | | | 7:g.128493657_128493664del | - | | | NM_001458.5(FLNC):c.6354C>T (p.His2118=) | 2318 | FLNC | Likely benign | 368455239 | RCV000649240|RCV001555308|RCV002360631; | N | 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:CN517202|MedGen:CN230736 | 7 | 128493668 | 128493668 | | | NC_000007.13:g.128493668C>T | ClinGen:CA4475947 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6354C>A (p.His2118Gln) | 2318 | FLNC | Uncertain significance | -1 | RCV002834244; | N | 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 | 7 | 128493668 | 128493668 | | | NC_000007.13:g.128493668C>A | - | | | NM_001458.5(FLNC):c.6355G>A (p.Val2119Met) | 2318 | FLNC | Likely benign | 748095197 | RCV000703661; | N | 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 | 7 | 128493669 | 128493669 | | | NC_000007.13:g.128493669G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6359C>G (p.Pro2120Arg) | 2318 | FLNC | Uncertain significance | 1808918849 | RCV001052976; | N | 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 | 7 | 128493673 | 128493673 | | | 7:g.128493673C>G | - | | | NM_001458.5(FLNC):c.6361+5G>A | 2318 | FLNC | Uncertain significance | 1808919247 | RCV001295631|RCV002366116; | N | 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 | 7 | 128493680 | 128493680 | | | 128493680 | - | | | NM_001458.5(FLNC):c.6361+9C>G | 2318 | FLNC | Likely benign | 747274154 | RCV000949128; | N | 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 | 7 | 128493684 | 128493684 | | | 7:g.128493684C>G | - | | | NM_001458.5(FLNC):c.6361+11G>T | 2318 | FLNC | Likely benign | -1 | RCV002959167; | N | 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 | 7 | 128493686 | 128493686 | | | NC_000007.13:g.128493686G>T | - | | | NM_001458.5(FLNC):c.6362-17C>G | 2318 | FLNC | Benign/Likely benign | 368901431 | RCV000607862|RCV002063067; | N | 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 | 7 | 128493752 | 128493752 | | | 7:g.128493752C>G | ClinGen:CA4475964 | CN169374 not specified; | | NM_001458.5(FLNC):c.6362-14T>G | 2318 | FLNC | Likely benign | 2128939162 | RCV002188951; | N | 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 | 7 | 128493755 | 128493755 | | | 128493755 | - | | | NM_001458.5(FLNC):c.6362-10C>T | 2318 | FLNC | Likely benign | 1350699492 | RCV002174989; | N | 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 | 7 | 128493759 | 128493759 | | | 128493759 | - | | | NM_001458.5(FLNC):c.6362-9C>G | 2318 | FLNC | Likely benign | -1 | RCV003080466; | N | 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 | 7 | 128493760 | 128493760 | | | NC_000007.13:g.128493760C>G | - | | | NM_001458.5(FLNC):c.6362-8C>T | 2318 | FLNC | Likely benign | -1 | RCV002731488; | N | 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 | 7 | 128493761 | 128493761 | | | NC_000007.13:g.128493761C>T | - | | | NM_001458.5(FLNC):c.6362-6C>T | 2318 | FLNC | Likely benign | 1808923840 | RCV002214954; | N | MONDO:MONDO: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 | 7 | 128493763 | 128493763 | | | 128493763 | - | | | NM_001458.5(FLNC):c.6362-5T>G | 2318 | FLNC | Uncertain significance | 2128939165 | RCV002031150; | N | 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 | 7 | 128493764 | 128493764 | | | 128493764 | - | | | NM_001458.5(FLNC):c.6362-1G>T | 2318 | FLNC | Likely pathogenic | 1808924231 | RCV001228174; | N | 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 | 7 | 128493768 | 128493768 | | | 7:g.128493768G>T | - | | | NM_001458.5(FLNC):c.6369C>T (p.Pro2123=) | 2318 | FLNC | Likely benign | 752728262 | RCV000554119; | N | 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 | 7 | 128493776 | 128493776 | | | 7:g.128493776C>T | ClinGen:CA4475967 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6374C>G (p.Thr2125Ser) | 2318 | FLNC | Uncertain significance | 371455516 | RCV001065880|RCV002355080|RCV002497464|RCV003145331; | N | 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|MONDO:MONDO:0012289,MedGen:C183 | 7 | 128493781 | 128493781 | | | 7:g.128493781C>G | - | | | NM_001458.5(FLNC):c.6381_6386dup (p.Val2128_Thr2129dup) | 2318 | FLNC | Uncertain significance | 1808924597 | RCV001306653; | N | 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 | 7 | 128493787 | 128493788 | | | 128493787 | - | | | NM_001458.5(FLNC):c.6387C>T (p.Thr2129=) | 2318 | FLNC | Likely benign | 200182180 | RCV000530143|RCV001702513|RCV002358581|RCV003150274; | N | 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:C3661900|MedGen:CN230736|Human Phenotype | 7 | 128493794 | 128493794 | | | NC_000007.13:g.128493794C>T | ClinGen:CA4475968 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6388G>A (p.Gly2130Ser) | 2318 | FLNC | Uncertain significance | 375778608 | RCV000804822|RCV001569480; | N | 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:CN517202 | 7 | 128493795 | 128493795 | | | 7:g.128493795G>A | - | | | NM_001458.5(FLNC):c.6390C>T (p.Gly2130=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 746751083 | RCV000546299|RCV000598569|RCV002367915; | N | 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:CN517202|MedGen:CN230736 | 7 | 128493797 | 128493797 | | | NC_000007.13:g.128493797C>T | ClinGen:CA4475970 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6391G>A (p.Glu2131Lys) | 2318 | FLNC | Uncertain significance | 757511370 | RCV001048340|RCV002355028; | N | 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|MedGen:CN230736 | 7 | 128493798 | 128493798 | | | 7:g.128493798G>A | - | | | NM_001458.5(FLNC):c.6396C>T (p.Gly2132=) | 2318 | FLNC | Likely benign | -1 | RCV002650013; | N | 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 | 7 | 128493803 | 128493803 | | | | - | | | NM_001458.5(FLNC):c.6397C>T (p.Arg2133Cys) | 2318 | FLNC | Uncertain significance | 1186464414 | RCV000649166|RCV002358861; | N | 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:CN230736 | 7 | 128493804 | 128493804 | | | NC_000007.13:g.128493804C>T | ClinGen:CA369212457 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6398G>A (p.Arg2133His) | 2318 | FLNC | Uncertain significance | 1808925531 | RCV001219264|RCV001751417; | N | 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:CN517202 | 7 | 128493805 | 128493805 | | | 7:g.128493805G>A | - | | | NM_001458.5(FLNC):c.6398G>T (p.Arg2133Leu) | 2318 | FLNC | Uncertain significance | 1808925531 | RCV001988337; | N | 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 | 7 | 128493805 | 128493805 | | | 128493805 | - | | | NM_001458.5(FLNC):c.6400A>G (p.Met2134Val) | 2318 | FLNC | Uncertain significance | 761143223 | RCV001318659; | N | 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 | 7 | 128493807 | 128493807 | | | 128493807 | - | | | NM_001458.5(FLNC):c.6405G>A (p.Lys2135=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 886043826 | RCV000340566|RCV001415278; | N | MedGen: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 | 7 | 128493812 | 128493812 | | | 7:g.128493812G>A | ClinGen:CA10605999 | CN169374 not specified; | | NM_001458.5(FLNC):c.6417C>T (p.Thr2139=) | 2318 | FLNC | Likely benign | 2128939183 | RCV002217724; | N | 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:614065, Orphanet:63273 | 7 | 128493824 | 128493824 | | | 128493824 | - | | | NM_001458.5(FLNC):c.6418C>T (p.Arg2140Trp) | 2318 | FLNC | Likely benign | -1 | RCV003086819; | N | 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 | 7 | 128493825 | 128493825 | | | NC_000007.13:g.128493825C>T | - | | | NM_001458.5(FLNC):c.6419G>A (p.Arg2140Gln) | 2318 | FLNC | Uncertain significance | 368662317 | RCV000554166|RCV002483476; | N | 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:MONDO:0012289,MedGen:C1836050,OMIM:609524 | 7 | 128493826 | 128493826 | | | 7:g.128493826G>A | ClinGen:CA4475976 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6420G>A (p.Arg2140=) | 2318 | FLNC | Likely benign | 2128939187 | RCV001490929|RCV002368504; | N | 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:614065, Orphanet:63273|MedGen:CN230736 | 7 | 128493827 | 128493827 | | | 128493827 | - | | | NM_001458.5(FLNC):c.6421C>T (p.Arg2141Trp) | 2318 | FLNC | Uncertain significance | 1808926604 | RCV002013758|RCV003161184; | N | 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:CN230736 | 7 | 128493828 | 128493828 | | | 128493828 | - | | | NM_001458.5(FLNC):c.6422G>A (p.Arg2141Gln) | 2318 | FLNC | Uncertain significance | 769106207 | RCV001294788|RCV003145513; | N | 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:CN517202 | 7 | 128493829 | 128493829 | | | 128493829 | - | | | NM_001458.5(FLNC):c.6428A>G (p.Gln2143Arg) | 2318 | FLNC | Uncertain significance | 774715089 | RCV001071866; | N | 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 | 7 | 128493835 | 128493835 | | | 7:g.128493835A>G | - | | | NM_001458.5(FLNC):c.6429G>A (p.Gln2143=) | 2318 | FLNC | Likely benign | 1434750571 | RCV001441501; | N | 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 | 7 | 128493836 | 128493836 | | | 128493836 | - | | | NM_001458.5(FLNC):c.6441C>T (p.Ile2147=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 762017885 | RCV000177977|RCV000724567|RCV001412157|RCV002362910; | N | MedGen: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:CN230736 | 7 | 128493848 | 128493848 | | | 7:g.128493848C>T | ClinGen:CA244991 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6447del (p.Ile2150fs) | 2318 | FLNC | Pathogenic | 1563003153 | RCV000695927; | N | 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 | 7 | 128493853 | 128493853 | | | 7:g.128493853_128493853del | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6450C>T (p.Ile2150=) | 2318 | FLNC | Likely benign | 776206819 | RCV000960737|RCV002363480; | N | 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 | 7 | 128493857 | 128493857 | | | 7:g.128493857C>T | - | | | NM_001458.5(FLNC):c.6450C>A (p.Ile2150=) | 2318 | FLNC | Uncertain significance | 776206819 | RCV001207059; | N | 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 | 7 | 128493857 | 128493857 | | | 7:g.128493857C>A | - | | | NM_001458.5(FLNC):c.6451G>T (p.Gly2151Cys) | 2318 | FLNC | Uncertain significance | 1563003159 | RCV000698439; | N | 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 | 7 | 128493858 | 128493858 | | | NC_000007.13:g.128493858G>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6451G>A (p.Gly2151Ser) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1563003159 | RCV001042078|RCV001557508|RCV002508950; | N | 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|MedGen:CN517202|Human Phenotype Ontology:HP:000 | 7 | 128493858 | 128493858 | | | 7:g.128493858G>A | - | | | NM_001458.5(FLNC):c.6453C>A (p.Gly2151=) | 2318 | FLNC | Likely benign | 1808928125 | RCV001411898; | N | MONDO:MONDO: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 | 7 | 128493860 | 128493860 | | | 128493860 | - | | | NM_001458.5(FLNC):c.6459C>T (p.Thr2153=) | 2318 | FLNC | Benign | 113618587 | RCV000177978|RCV000560188|RCV002362911; | N | MedGen: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:CN230736 | 7 | 128493866 | 128493866 | | | 7:g.128493866C>T | ClinGen:CA202682 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6459C>A (p.Thr2153=) | 2318 | FLNC | Likely benign | 113618587 | RCV002181257; | N | 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 | 7 | 128493866 | 128493866 | | | 128493866 | - | | | NM_001458.5(FLNC):c.6459C>G (p.Thr2153=) | 2318 | FLNC | Likely benign | 113618587 | RCV002134836; | N | 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 | 7 | 128493866 | 128493866 | | | 128493866 | - | | | NM_001458.5(FLNC):c.6460T>A (p.Cys2154Ser) | 2318 | FLNC | Uncertain significance | 1554401153 | RCV000649133; | N | 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 | 7 | 128493867 | 128493867 | | | 7:g.128493867T>A | ClinGen:CA369212589 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6462T>C (p.Cys2154=) | 2318 | FLNC | Likely benign | -1 | RCV002970701; | N | 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 | 7 | 128493869 | 128493869 | | | | - | | | NM_001458.5(FLNC):c.6471C>T (p.Asn2157=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 764877771 | RCV000998923|RCV001465728|RCV002363529; | N | MedGen: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 | 7 | 128493878 | 128493878 | | | 7:g.128493878C>T | - | | | NM_001458.5(FLNC):c.6474C>T (p.Leu2158=) | 2318 | FLNC | Likely benign | -1 | RCV003032500; | N | 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 | 7 | 128493881 | 128493881 | | | | - | | | NM_001458.5(FLNC):c.6479T>C (p.Ile2160Thr) | 2318 | FLNC | Uncertain significance | -1 | RCV003034371|RCV003232765; | N | 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:CN517202 | 7 | 128493886 | 128493886 | | | NC_000007.13:g.128493886T>C | - | | | NM_001458.5(FLNC):c.6484+6A>T | 2318 | FLNC | Uncertain significance | 764061858 | RCV001365873; | N | 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 | 7 | 128493897 | 128493897 | | | 128493897 | - | | | NM_001458.5(FLNC):c.6485-8C>T | 2318 | FLNC | Conflicting interpretations of pathogenicity | 369347947 | RCV000536231|RCV000597985; | N | 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:CN517202 | 7 | 128494020 | 128494020 | | | 7:g.128494020C>T | ClinGen:CA4476002 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6486A>G (p.Gly2162=) | 2318 | FLNC | Likely benign | 1462242192 | RCV002084702; | N | 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 | 7 | 128494029 | 128494029 | | | 128494029 | - | | | NM_001458.5(FLNC):c.6489C>T (p.Asn2163=) | 2318 | FLNC | Likely benign | -1 | RCV002632789; | N | 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 | 7 | 128494032 | 128494032 | | | | - | | | NM_001458.5(FLNC):c.6490T>C (p.Trp2164Arg) | 2318 | FLNC | Uncertain significance | 1808936908 | RCV001063326; | N | 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 | 7 | 128494033 | 128494033 | | | 7:g.128494033T>C | - | | | NM_001458.5(FLNC):c.6491G>A (p.Trp2164Ter) | 2318 | FLNC | Pathogenic | 2128939246 | RCV001953594; | N | 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 | 7 | 128494034 | 128494034 | | | 128494034 | - | | | NM_001458.5(FLNC):c.6497A>C (p.Gln2166Pro) | 2318 | FLNC | Uncertain significance | -1 | RCV002295708; | N | MONDO:MONDO: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 | 7 | 128494040 | 128494040 | | | 128494040 | - | | | NM_001458.5(FLNC):c.6497A>T (p.Gln2166Leu) | 2318 | FLNC | Uncertain significance | -1 | RCV002296936; | N | MONDO:MONDO: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 | 7 | 128494040 | 128494040 | | | 128494040 | - | | | NM_001458.5(FLNC):c.6499A>G (p.Met2167Val) | 2318 | FLNC | Uncertain significance | 2128939248 | RCV001966070; | N | 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 | 7 | 128494042 | 128494042 | | | 128494042 | - | | | NM_001458.5(FLNC):c.6504G>A (p.Val2168=) | 2318 | FLNC | Likely benign | 372665009 | RCV001480906|RCV002368475; | N | 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:CN230736 | 7 | 128494047 | 128494047 | | | 128494047 | - | | | NM_001458.5(FLNC):c.6517C>T (p.Arg2173Cys) | 2318 | FLNC | Uncertain significance | 767250474 | RCV000814849; | N | 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 | 7 | 128494060 | 128494060 | | | 7:g.128494060C>T | - | | | NM_001458.5(FLNC):c.6517C>G (p.Arg2173Gly) | 2318 | FLNC | Uncertain significance | -1 | RCV002303882|RCV002363759; | N | 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:CN230736 | 7 | 128494060 | 128494060 | | | 128494060 | - | | | NM_001458.5(FLNC):c.6518G>A (p.Arg2173His) | 2318 | FLNC | Uncertain significance | -1 | RCV002364198|RCV003098275|RCV003146546; | N | MedGen: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:CN517202 | 7 | 128494061 | 128494061 | | | 128494061 | - | | | NM_001458.5(FLNC):c.6521T>C (p.Leu2174Pro) | 2318 | FLNC | Uncertain significance | -1 | RCV003029178; | N | 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 | 7 | 128494064 | 128494064 | | | NC_000007.13:g.128494064T>C | - | | | NM_001458.5(FLNC):c.6523A>C (p.Thr2175Pro) | 2318 | FLNC | Uncertain significance | 1358590777 | RCV001346263; | N | 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 | 7 | 128494066 | 128494066 | | | 128494066 | - | | | NM_001458.5(FLNC):c.6525A>G (p.Thr2175=) | 2318 | FLNC | Benign | -1 | RCV002630112; | N | 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 | 7 | 128494068 | 128494068 | | | | - | | | NM_001458.5(FLNC):c.6526C>T (p.Arg2176Cys) | 2318 | FLNC | Uncertain significance | 376885778 | RCV000705249; | N | 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 | 7 | 128494069 | 128494069 | | | NC_000007.13:g.128494069C>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6527G>A (p.Arg2176His) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1295294313 | RCV001767485|RCV001882906; | N | MedGen: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 | 7 | 128494070 | 128494070 | | | 128494070 | - | | | NM_001458.5(FLNC):c.6529A>G (p.Thr2177Ala) | 2318 | FLNC | Uncertain significance | 1285672775 | RCV001222453; | N | 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 | 7 | 128494072 | 128494072 | | | 7:g.128494072A>G | - | | | NM_001458.5(FLNC):c.6530C>A (p.Thr2177Asn) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 756345989 | RCV001059268|RCV002365728; | N | 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 | 7 | 128494073 | 128494073 | | | 7:g.128494073C>A | - | | | NM_001458.5(FLNC):c.6533T>C (p.Phe2178Ser) | 2318 | FLNC | Uncertain significance | 1554401204 | RCV000649120; | N | 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 | 7 | 128494076 | 128494076 | | | 7:g.128494076T>C | ClinGen:CA369212763 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6538C>T (p.Arg2180Cys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 779029827 | RCV000811509|RCV002363101|RCV003145167; | N | 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|MedGen:CN517202 | 7 | 128494081 | 128494081 | | | 7:g.128494081C>T | - | | | NM_001458.5(FLNC):c.6539G>C (p.Arg2180Pro) | 2318 | FLNC | Uncertain significance | 1554401209 | RCV000649095|RCV002360620; | N | 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:CN230736 | 7 | 128494082 | 128494082 | | | NC_000007.13:g.128494082G>C | ClinGen:CA369212776 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6539G>A (p.Arg2180His) | 2318 | FLNC | Uncertain significance | 1554401209 | RCV001070374|RCV002365778; | N | 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 | 7 | 128494082 | 128494082 | | | 7:g.128494082G>A | - | | | NM_001458.5(FLNC):c.6551C>G (p.Thr2184Ser) | 2318 | FLNC | Likely benign | 772588219 | RCV000796628; | N | 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 | 7 | 128494094 | 128494094 | | | 7:g.128494094C>G | - | | | NM_001458.5(FLNC):c.6559CGCACGGAG[3] (p.2187RTE[3]) | 2318 | FLNC | Uncertain significance | 1808941149 | RCV001245605; | N | 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 | 7 | 128494101 | 128494102 | | | 7:g.128494101_128494102insCGCACGGAG | - | | | NM_001458.5(FLNC):c.6559C>T (p.Arg2187Cys) | 2318 | FLNC | Uncertain significance | 747336635 | RCV002222792|RCV002496150; | N | MedGen: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 | 7 | 128494102 | 128494102 | | | 128494102 | - | | | NM_001458.5(FLNC):c.6561_6564del (p.Thr2188fs) | 2318 | FLNC | Pathogenic | -1 | RCV002796563; | N | 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 | 7 | 128494102 | 128494105 | | | NC_000007.13:g.128494104_128494107del | - | | | NM_001458.5(FLNC):c.6560G>A (p.Arg2187His) | 2318 | FLNC | Uncertain significance | -1 | RCV002631113; | N | 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 | 7 | 128494103 | 128494103 | | | NC_000007.13:g.128494103G>A | - | | | NM_001458.5(FLNC):c.6563C>T (p.Thr2188Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 769574342 | RCV002014018|RCV003161199; | N | 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 | 7 | 128494106 | 128494106 | | | 128494106 | - | | | NM_001458.5(FLNC):c.6564G>A (p.Thr2188=) | 2318 | FLNC | Likely benign | 775348656 | RCV000544446|RCV002367916; | N | 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 | 7 | 128494107 | 128494107 | | | 7:g.128494107G>A | ClinGen:CA4476017 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6565G>A (p.Glu2189Lys) | 2318 | FLNC | Uncertain significance | -1 | RCV002301542; | N | MONDO:MONDO: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 | 7 | 128494108 | 128494108 | | | 128494108 | - | | | NM_001458.5(FLNC):c.6568C>T (p.Arg2190Cys) | 2318 | FLNC | Uncertain significance | 1474675847 | RCV001344769|RCV002261351; | N | 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:CN517202 | 7 | 128494111 | 128494111 | | | 128494111 | - | | | NM_001458.5(FLNC):c.6568C>A (p.Arg2190Ser) | 2318 | FLNC | Uncertain significance | 1474675847 | RCV001915065; | N | 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 | 7 | 128494111 | 128494111 | | | 128494111 | - | | | NM_001458.5(FLNC):c.6569G>A (p.Arg2190His) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 762680314 | RCV000649147|RCV003162968; | N | 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:CN230736 | 7 | 128494112 | 128494112 | | | 7:g.128494112G>A | ClinGen:CA4476018 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6569G>C (p.Arg2190Pro) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 762680314 | RCV001752447|RCV001885028; | N | 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 | 7 | 128494112 | 128494112 | | | 128494112 | - | | | NM_001458.5(FLNC):c.6570C>T (p.Arg2190=) | 2318 | FLNC | Uncertain significance | 1184540221 | RCV001362343; | N | 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 | 7 | 128494113 | 128494113 | | | 128494113 | - | | | NM_001458.5(FLNC):c.6572C>T (p.Thr2191Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 768329311 | RCV000482064|RCV000689890|RCV003168978; | N | MedGen: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:C0950123 | 7 | 128494115 | 128494115 | | | 7:g.128494115C>T | ClinGen:CA4476019 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6573G>C (p.Thr2191=) | 2318 | FLNC | Likely benign | 761680664 | RCV001415785; | N | MONDO:MONDO: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 | 7 | 128494116 | 128494116 | | | 7:g.128494116G>C | - | | | NM_001458.5(FLNC):c.6573G>A (p.Thr2191=) | 2318 | FLNC | Likely benign | 761680664 | RCV001505998|RCV002363500; | N | 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 | 7 | 128494116 | 128494116 | | | 7:g.128494116G>A | - | | | NM_001458.5(FLNC):c.6587C>T (p.Thr2196Met) | 2318 | FLNC | Uncertain significance | 560228151 | RCV001048685; | N | 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:614065, Orphanet:63273 | 7 | 128494130 | 128494130 | | | 7:g.128494130C>T | - | | | NM_001458.5(FLNC):c.6588G>A (p.Thr2196=) | 2318 | FLNC | Likely benign | 750190004 | RCV001468425|RCV002368437|RCV003222325; | N | 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|MedGen:C3661900 | 7 | 128494131 | 128494131 | | | 128494131 | - | | | NM_001458.5(FLNC):c.6589C>T (p.Arg2197Trp) | 2318 | FLNC | Uncertain significance | 1808943188 | RCV001332012|RCV001871828; | N | MONDO: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:614065 | 7 | 128494132 | 128494132 | | | 128494132 | - | | | NM_001458.5(FLNC):c.6590G>A (p.Arg2197Gln) | 2318 | FLNC | Uncertain significance | 760535041 | RCV000814736|RCV002372293; | N | 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 | 7 | 128494133 | 128494133 | | | 7:g.128494133G>A | - | | | NM_001458.5(FLNC):c.6593G>A (p.Gly2198Asp) | 2318 | FLNC | Uncertain significance | 909093665 | RCV000811033|RCV002370179; | N | 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 | 7 | 128494136 | 128494136 | | | 7:g.128494136G>A | - | | | NM_001458.5(FLNC):c.6594C>T (p.Gly2198=) | 2318 | FLNC | Likely benign | 754112206 | RCV001432286|RCV001703096|RCV002368342; | N | 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:C3661900|MedGen:CN230736 | 7 | 128494137 | 128494137 | | | 128494137 | - | | | NM_001458.5(FLNC):c.6594C>A (p.Gly2198=) | 2318 | FLNC | Likely benign | 754112206 | RCV001472067|RCV002368446; | N | 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:CN230736 | 7 | 128494137 | 128494137 | | | 128494137 | - | | | NM_001458.5(FLNC):c.6595G>A (p.Gly2199Arg) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 368977589 | RCV000536487|RCV001584316|RCV002377136|RCV002470909; | N | 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:CN517202|MedGen:CN230736|MONDO:MONDO:001 | 7 | 128494138 | 128494138 | | | 7:g.128494138G>A | ClinGen:CA4476027 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6602C>T (p.Thr2201Ile) | 2318 | FLNC | Uncertain significance | 1585169205 | RCV000816278|RCV001772114; | N | 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:CN517202 | 7 | 128494145 | 128494145 | | | 7:g.128494145C>T | - | | | NM_001458.5(FLNC):c.6606G>A (p.Lys2202=) | 2318 | FLNC | Likely benign | -1 | RCV002623271|RCV003368018; | N | MONDO:MONDO: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 | 7 | 128494149 | 128494149 | | | | - | | | NM_001458.5(FLNC):c.6607C>T (p.Arg2203Cys) | 2318 | FLNC | Uncertain significance | 758838323 | RCV001060508|RCV001593239; | N | 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:CN517202 | 7 | 128494150 | 128494150 | | | 7:g.128494150C>T | - | | | NM_001458.5(FLNC):c.6607C>G (p.Arg2203Gly) | 2318 | FLNC | Uncertain significance | 758838323 | RCV001209852; | N | 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 | 7 | 128494150 | 128494150 | | | 7:g.128494150C>G | - | | | NM_001458.5(FLNC):c.6608G>A (p.Arg2203His) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1063262 | RCV001063688|RCV001577292|RCV002365749; | N | 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:CN517202|MedGen:CN230736 | 7 | 128494151 | 128494151 | | | 7:g.128494151G>A | - | | | NM_001458.5(FLNC):c.6609C>T (p.Arg2203=) | 2318 | FLNC | Likely benign | 374101315 | RCV001205621|RCV002365924; | N | 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:CN230736 | 7 | 128494152 | 128494152 | | | 7:g.128494152C>T | - | | | NM_001458.5(FLNC):c.6610G>A (p.Glu2204Lys) | 2318 | FLNC | Uncertain significance | 1476564683 | RCV001308100|RCV003166755; | N | 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 | 7 | 128494153 | 128494153 | | | 128494153 | - | | | NM_001458.5(FLNC):c.6616C>T (p.Arg2206Trp) | 2318 | FLNC | Uncertain significance | 867032077 | RCV001932434|RCV002361133; | N | 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 | 7 | 128494159 | 128494159 | | | 128494159 | - | | | NM_001458.5(FLNC):c.6617G>C (p.Arg2206Pro) | 2318 | FLNC | Uncertain significance | 781671804 | RCV001307904; | N | 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 | 7 | 128494160 | 128494160 | | | 128494160 | - | | | NM_001458.5(FLNC):c.6617G>A (p.Arg2206Gln) | 2318 | FLNC | Uncertain significance | 781671804 | RCV001349769|RCV003284241; | N | 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:CN230736 | 7 | 128494160 | 128494160 | | | 128494160 | - | | | NM_001458.5(FLNC):c.6621_6638del (p.Glu2208_Val2213del) | 2318 | FLNC | Uncertain significance | 2128939305 | RCV002003432; | N | 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 | 7 | 128494161 | 128494178 | | | 128494160 | - | | | NM_001458.5(FLNC):c.6620T>C (p.Val2207Ala) | 2318 | FLNC | Uncertain significance | -1 | RCV002996175; | N | 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 | 7 | 128494163 | 128494163 | | | NC_000007.13:g.128494163T>C | - | | | NM_001458.5(FLNC):c.6624G>A (p.Glu2208=) | 2318 | FLNC | Likely benign | 768307482 | RCV002216638; | N | 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 | 7 | 128494167 | 128494167 | | | 128494167 | - | | | NM_001458.5(FLNC):c.6632C>T (p.Thr2211Ile) | 2318 | FLNC | Uncertain significance | 1808946811 | RCV001071638; | N | 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 | 7 | 128494175 | 128494175 | | | 7:g.128494175C>T | - | | | NM_001458.5(FLNC):c.6634C>T (p.Gln2212Ter) | 2318 | FLNC | Pathogenic | 2128939316 | RCV001956089; | N | 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 | 7 | 128494177 | 128494177 | | | 128494177 | - | | | NM_001458.5(FLNC):c.6639C>T (p.Val2213=) | 2318 | FLNC | Likely benign | 747628268 | RCV000649236|RCV002360630|RCV003457731; | N | 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|MedGen:C3661900 | 7 | 128494182 | 128494182 | | | 7:g.128494182C>T | ClinGen:CA4476038 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6640G>A (p.Gly2214Ser) | 2318 | FLNC | Uncertain significance | 1431110219 | RCV000549281|RCV002367918; | N | 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:CN230736 | 7 | 128494183 | 128494183 | | | 7:g.128494183G>A | ClinGen:CA369212983 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6642C>T (p.Gly2214=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 546247674 | RCV000649118|RCV001771894|RCV002360622; | N | 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:C3661900|MedGen:CN230736 | 7 | 128494185 | 128494185 | | | NC_000007.13:g.128494185C>T | ClinGen:CA4476039 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6643G>A (p.Gly2215Arg) | 2318 | FLNC | Uncertain significance | 1310201356 | RCV002046917; | N | MONDO:MONDO: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 | 7 | 128494186 | 128494186 | | | 128494186 | - | | | NM_001458.5(FLNC):c.6646G>A (p.Asp2216Asn) | 2318 | FLNC | Uncertain significance | 1808947656 | RCV001209454; | N | 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 | 7 | 128494189 | 128494189 | | | 7:g.128494189G>A | - | | | NM_001458.5(FLNC):c.6648C>T (p.Asp2216=) | 2318 | FLNC | Likely benign | 1362841989 | RCV001416609; | N | 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 | 7 | 128494191 | 128494191 | | | NC_000007.13:g.128494191C>T | ClinGen:CA457849934 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6654C>T (p.Phe2218=) | 2318 | FLNC | Likely benign | 2128939330 | RCV001469433; | N | 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 | 7 | 128494197 | 128494197 | | | 128494197 | - | | | NM_001458.5(FLNC):c.6656C>A (p.Pro2219His) | 2318 | FLNC | Uncertain significance | 1808948567 | RCV001894874; | N | 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 | 7 | 128494199 | 128494199 | | | 128494199 | - | | | NM_001458.5(FLNC):c.6659C>T (p.Ala2220Val) | 2318 | FLNC | Uncertain significance | 370839908 | RCV000811891|RCV002363105; | N | 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 | 7 | 128494202 | 128494202 | | | 7:g.128494202C>T | - | | | NM_001458.5(FLNC):c.6660T>C (p.Ala2220=) | 2318 | FLNC | Likely benign | 1808949010 | RCV001446568|RCV002368376; | N | 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 | 7 | 128494203 | 128494203 | | | 128494203 | - | | | NM_001458.5(FLNC):c.6663_6664del (p.Phe2222fs) | 2318 | FLNC | Pathogenic | 2128939337 | RCV001871112; | N | 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:614065, Orphanet:63273 | 7 | 128494203 | 128494204 | | | 128494202 | - | | | NM_001458.5(FLNC):c.6661G>A (p.Val2221Met) | 2318 | FLNC | Uncertain significance | 1198252355 | RCV001903026; | N | 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 | 7 | 128494204 | 128494204 | | | 128494204 | - | | | NM_001458.5(FLNC):c.6662T>C (p.Val2221Ala) | 2318 | FLNC | Uncertain significance | 2128939339 | RCV001372230; | N | 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 | 7 | 128494205 | 128494205 | | | 128494205 | - | | | NM_001458.5(FLNC):c.6663G>C (p.Val2221=) | 2318 | FLNC | Likely benign | 776372673 | RCV001895652; | N | 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 | 7 | 128494206 | 128494206 | | | 128494206 | - | | | NM_001458.5(FLNC):c.6665T>C (p.Phe2222Ser) | 2318 | FLNC | Uncertain significance | 1554401281 | RCV000525262|RCV002367919; | N | 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 | 7 | 128494208 | 128494208 | | | 7:g.128494208T>C | ClinGen:CA369213058 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6672C>T (p.Asp2224=) | 2318 | FLNC | Likely benign | -1 | RCV002750097|RCV003167687; | N | 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 | 7 | 128494215 | 128494215 | | | | - | | | NM_001458.5(FLNC):c.6673T>C (p.Phe2225Leu) | 2318 | FLNC | Uncertain significance | -1 | RCV003068084; | N | 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 | 7 | 128494216 | 128494216 | | | NC_000007.13:g.128494216T>C | - | | | NM_001458.5(FLNC):c.6675C>T (p.Phe2225=) | 2318 | FLNC | Likely benign | 1247783009 | RCV001441026; | N | 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 | 7 | 128494218 | 128494218 | | | 128494218 | - | | | NM_001458.5(FLNC):c.6677T>A (p.Leu2226Gln) | 2318 | FLNC | Uncertain significance | -1 | RCV003029655; | N | 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 | 7 | 128494220 | 128494220 | | | NC_000007.13:g.128494220T>A | - | | | NM_001458.5(FLNC):c.6682C>T (p.Arg2228Trp) | 2318 | FLNC | Uncertain significance | 1196014760 | RCV001900011; | N | 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 | 7 | 128494225 | 128494225 | | | 128494225 | - | | | NM_001458.5(FLNC):c.6683G>A (p.Arg2228Gln) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 765438770 | RCV000649167|RCV002291682|RCV002360625|RCV003403496; | N | 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:CN230736| | 7 | 128494226 | 128494226 | | | 7:g.128494226G>A | ClinGen:CA4476045 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6685G>A (p.Glu2229Lys) | 2318 | FLNC | Uncertain significance | -1 | RCV002843862; | N | 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 | 7 | 128494228 | 128494228 | | | NC_000007.13:g.128494228G>A | - | | | NM_001458.5(FLNC):c.6689G>T (p.Arg2230Leu) | 2318 | FLNC | Likely benign | 376035195 | RCV000537974; | N | 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 | 7 | 128494232 | 128494232 | | | 7:g.128494232G>T | ClinGen:CA369213170 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6689G>A (p.Arg2230His) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 376035195 | RCV000687144|RCV001592866|RCV002360721; | N | 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:CN517202|MedGen:CN230736 | 7 | 128494232 | 128494232 | | | NC_000007.13:g.128494232G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6702C>T (p.Phe2234=) | 2318 | FLNC | Likely benign | 370589662 | RCV000556853|RCV001662581|RCV002367917; | N | 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:CN230736 | 7 | 128494245 | 128494245 | | | 7:g.128494245C>T | ClinGen:CA4476048 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6702C>G (p.Phe2234Leu) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 370589662 | RCV001992795|RCV002361285; | N | 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:CN230736 | 7 | 128494245 | 128494245 | | | 128494245 | - | | | NM_001458.5(FLNC):c.6703G>A (p.Gly2235Ser) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 752159793 | RCV001214108|RCV002365962; | N | 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:CN230736 | 7 | 128494246 | 128494246 | | | 7:g.128494246G>A | - | | | NM_001458.5(FLNC):c.6707G>C (p.Ser2236Thr) | 2318 | FLNC | Uncertain significance | 1808951957 | RCV001340791; | N | 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 | 7 | 128494250 | 128494250 | | | 128494250 | - | | | NM_001458.5(FLNC):c.6708C>T (p.Ser2236=) | 2318 | FLNC | Likely benign | 757805510 | RCV001408637; | N | 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 | 7 | 128494251 | 128494251 | | | 7:g.128494251C>T | - | | | NM_001458.5(FLNC):c.6711C>G (p.Ile2237Met) | 2318 | FLNC | Uncertain significance | 781708543 | RCV000809802; | N | 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 | 7 | 128494254 | 128494254 | | | 7:g.128494254C>G | - | | | NM_001458.5(FLNC):c.6713C>T (p.Thr2238Ile) | 2318 | FLNC | Uncertain significance | 1043618669 | RCV001214386; | N | 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 | 7 | 128494256 | 128494256 | | | 7:g.128494256C>T | - | | | NM_001458.5(FLNC):c.6714C>T (p.Thr2238=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 10268251 | RCV000597579|RCV001080330|RCV002367920|RCV001729638; | N | 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:171445|MedGen:CN230736|MedGen:CN169374 | 7 | 128494257 | 128494257 | | | NC_000007.13:g.128494257C>T | ClinGen:CA4476052 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6714C>G (p.Thr2238=) | 2318 | FLNC | Likely benign | 10268251 | RCV001467647; | N | 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 | 7 | 128494257 | 128494257 | | | 128494257 | - | | | NM_001458.5(FLNC):c.6715C>T (p.Arg2239Trp) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 367820987 | RCV000824072|RCV001772144|RCV002372360; | N | 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:CN517202|MedGen:CN230736 | 7 | 128494258 | 128494258 | | | 7:g.128494258C>T | - | | | NM_001458.5(FLNC):c.6716G>A (p.Arg2239Gln) | 2318 | FLNC | Uncertain significance | 1350832784 | RCV001294291|RCV001702891; | N | 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:CN517202 | 7 | 128494259 | 128494259 | | | 128494259 | - | | | NM_001458.5(FLNC):c.6716G>T (p.Arg2239Leu) | 2318 | FLNC | Uncertain significance | 1350832784 | RCV001699755|RCV002506735|RCV002538632; | N | 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|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047 | 7 | 128494259 | 128494259 | | | 128494259 | - | | | NM_001458.5(FLNC):c.6720G>A (p.Gln2240=) | 2318 | FLNC | Likely benign | 371391208 | RCV000526740|RCV002367921|RCV001557711; | N | 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:C3661900 | 7 | 128494263 | 128494263 | | | 7:g.128494263G>A | ClinGen:CA4476055 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6721C>T (p.Gln2241Ter) | 2318 | FLNC | Pathogenic | 2128939369 | RCV001901247; | N | 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 | 7 | 128494264 | 128494264 | | | 128494264 | - | | | NM_001458.5(FLNC):c.6724G>A (p.Glu2242Lys) | 2318 | FLNC | Uncertain significance | 1265897548 | RCV000539200|RCV001755878|RCV003159899; | N | 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|MedGen:CN517202|MedGen:CN230736 | 7 | 128494267 | 128494267 | | | 7:g.128494267G>A | ClinGen:CA369213322 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6727+3G>A | 2318 | FLNC | Uncertain significance | 771664894 | RCV001049840; | N | 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 | 7 | 128494273 | 128494273 | | | 7:g.128494273G>A | - | | | NM_001458.5(FLNC):c.6727+7A>G | 2318 | FLNC | Likely benign | 746982412 | RCV000555360; | N | 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 | 7 | 128494277 | 128494277 | | | NC_000007.13:g.128494277A>G | ClinGen:CA4476058 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6727+11_6727+26dup | 2318 | FLNC | Likely benign | -1 | RCV003095810; | N | 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 | 7 | 128494277 | 128494278 | | | NC_000007.13:g.128494281_128494296dup | - | | | NM_001458.5(FLNC):c.6727+9C>T | 2318 | FLNC | Likely benign | 770803250 | RCV000875234; | N | 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 | 7 | 128494279 | 128494279 | | | 7:g.128494279C>T | - | | | NM_001458.5(FLNC):c.6727+9C>G | 2318 | FLNC | Likely benign | 770803250 | RCV001449337; | N | 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 | 7 | 128494279 | 128494279 | | | 128494279 | - | | | NM_001458.5(FLNC):c.6727+9C>A | 2318 | FLNC | Likely benign | 770803250 | RCV002191243; | N | 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 | 7 | 128494279 | 128494279 | | | 128494279 | - | | | NM_001458.5(FLNC):c.6727+10G>A | 2318 | FLNC | Likely benign | 776420317 | RCV001500676; | N | 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 | 7 | 128494280 | 128494280 | | | 128494280 | - | | | NM_001458.5(FLNC):c.6727+15C>A | 2318 | FLNC | Likely benign | 2128939385 | RCV002141677; | N | 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 | 7 | 128494285 | 128494285 | | | 128494285 | - | | | NM_001458.5(FLNC):c.6728-16C>T | 2318 | FLNC | Likely benign | 781170154 | RCV002182395; | N | 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 | 7 | 128494451 | 128494451 | | | 128494451 | - | | | NM_001458.5(FLNC):c.6728-15C>A | 2318 | FLNC | Likely benign | 2128939431 | RCV002144358; | N | 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 | 7 | 128494452 | 128494452 | | | 128494452 | - | | | NM_001458.5(FLNC):c.6728-8C>T | 2318 | FLNC | Likely benign | 2128939436 | RCV002161032; | N | 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 | 7 | 128494459 | 128494459 | | | 128494459 | - | | | NM_001458.5(FLNC):c.6728-7C>A | 2318 | FLNC | Likely benign | 2128939437 | RCV002008691; | N | 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 | 7 | 128494460 | 128494460 | | | 128494460 | - | | | NM_001458.5(FLNC):c.6728-3C>T | 2318 | FLNC | Uncertain significance | -1 | RCV002634553; | N | 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 | 7 | 128494464 | 128494464 | | | NC_000007.13:g.128494464C>T | - | | | NM_001458.5(FLNC):c.6728G>A (p.Gly2243Asp) | 2318 | FLNC | Uncertain significance | 1311623651 | RCV001071484; | N | 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 | 7 | 128494467 | 128494467 | | | 7:g.128494467G>A | - | | | NM_001458.5(FLNC):c.6729T>C (p.Gly2243=) | 2318 | FLNC | Likely benign | -1 | RCV002620149; | N | 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 | 7 | 128494468 | 128494468 | | | | - | | | NM_001458.5(FLNC):c.6730G>A (p.Glu2244Lys) | 2318 | FLNC | Uncertain significance | 1340208212 | RCV001944083; | N | 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 | 7 | 128494469 | 128494469 | | | 128494469 | - | | | NM_001458.5(FLNC):c.6737G>A (p.Ser2246Asn) | 2318 | FLNC | Uncertain significance | -1 | RCV002622392; | N | 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 | 7 | 128494476 | 128494476 | | | NC_000007.13:g.128494476G>A | - | | | NM_001458.5(FLNC):c.6738C>T (p.Ser2246=) | 2318 | FLNC | Likely benign | 1042317054 | RCV001395365; | N | 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 | 7 | 128494477 | 128494477 | | | 128494477 | - | | | NM_001458.5(FLNC):c.6748A>C (p.Met2250Leu) | 2318 | FLNC | Uncertain significance | 923795184 | RCV000656200|RCV001036816|RCV002266989; | N | Human 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:C4 | 7 | 128494487 | 128494487 | | | NC_000007.13:g.128494487A>C | ClinGen:CA166191587 | C0043202 194200 Wolff-Parkinson-White pattern; | | NM_001458.5(FLNC):c.6753dup (p.Ala2252fs) | 2318 | FLNC | Pathogenic | 1808965674 | RCV001038851; | N | 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 | 7 | 128494491 | 128494492 | | | 7:g.128494491_128494492insT | - | | | NM_001458.5(FLNC):c.6753_6754dup (p.Ala2252fs) | 2318 | FLNC | Pathogenic | -1 | RCV002853283; | N | 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 | 7 | 128494491 | 128494492 | | | NC_000007.13:g.128494492_128494493dup | - | | | NM_001458.5(FLNC):c.6754G>A (p.Ala2252Thr) | 2318 | FLNC | Uncertain significance | 963272191 | RCV000823318; | N | 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 | 7 | 128494493 | 128494493 | | | 7:g.128494493G>A | - | | | NM_001458.5(FLNC):c.6770dup (p.Ser2258fs) | 2318 | FLNC | Pathogenic | -1 | RCV003055702; | N | 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 | 7 | 128494506 | 128494507 | | | NC_000007.13:g.128494509dup | - | | | NM_001458.5(FLNC):c.6771A>G (p.Pro2257=) | 2318 | FLNC | Benign | 34422412 | RCV000117080|RCV000526822|RCV001729392|RCV002362746; | N | MedGen: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:CN230736 | 7 | 128494510 | 128494510 | | | 7:g.128494510A>G | ClinGen:CA152874 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6773C>T (p.Ser2258Leu) | 2318 | FLNC | Uncertain significance | 762051422 | RCV001900020|RCV003150462; | N | 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|Human Phenotype Ontology:HP:0001638,MONDO:MONDO | 7 | 128494512 | 128494512 | | | 128494512 | - | | | NM_001458.5(FLNC):c.6774G>A (p.Ser2258=) | 2318 | FLNC | Likely benign | 767691386 | RCV001500501|RCV001581161|RCV003365417; | N | 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:C3661900|MedGen:CN230736 | 7 | 128494513 | 128494513 | | | 128494513 | - | | | NM_001458.5(FLNC):c.6774G>C (p.Ser2258=) | 2318 | FLNC | Likely benign | -1 | RCV003021335; | N | 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 | 7 | 128494513 | 128494513 | | | | - | | | NM_001458.5(FLNC):c.6775G>A (p.Gly2259Ser) | 2318 | FLNC | Uncertain significance | -1 | RCV003016581; | N | 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 | 7 | 128494514 | 128494514 | | | NC_000007.13:g.128494514G>A | - | | | NM_001458.5(FLNC):c.6777C>A (p.Gly2259=) | 2318 | FLNC | Likely benign | 1057161787 | RCV001470625; | N | 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 | 7 | 128494516 | 128494516 | | | 7:g.128494516C>A | - | | | NM_001458.5(FLNC):c.6777C>T (p.Gly2259=) | 2318 | FLNC | Uncertain significance | 1057161787 | RCV001883519; | N | 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:614065, Orphanet:63273 | 7 | 128494516 | 128494516 | | | 128494516 | - | | | NM_001458.5(FLNC):c.6779A>G (p.Lys2260Arg) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 751019991 | RCV000649108|RCV002360621|RCV003144438|RCV003448330; | N | 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:CN230736|MedGen:C3661900|MONDO:MONDO:001 | 7 | 128494518 | 128494518 | | | 7:g.128494518A>G | ClinGen:CA4476088 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6780G>A (p.Lys2260=) | 2318 | FLNC | Likely benign | 1808967100 | RCV002128461; | N | MONDO:MONDO: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 | 7 | 128494519 | 128494519 | | | 128494519 | - | | | NM_001458.5(FLNC):c.6789C>T (p.Ala2263=) | 2318 | FLNC | Likely benign | 761059390 | RCV001480568|RCV002368473; | N | 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:CN230736 | 7 | 128494528 | 128494528 | | | 128494528 | - | | | NM_001458.5(FLNC):c.6798C>T (p.Ile2266=) | 2318 | FLNC | Likely benign | 754105222 | RCV001454524; | N | 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 | 7 | 128494537 | 128494537 | | | 128494537 | - | | | NM_001458.5(FLNC):c.6799G>A (p.Val2267Ile) | 2318 | FLNC | Uncertain significance | 758080422 | RCV000518871|RCV001042328|RCV002367735|RCV002481710; | N | MedGen: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:001 | 7 | 128494538 | 128494538 | | | 7:g.128494538G>A | ClinGen:CA4476092 | CN169374 not specified; | | NM_001458.5(FLNC):c.6801C>T (p.Val2267=) | 2318 | FLNC | Likely benign | 768689551 | RCV000918902|RCV002363374; | N | 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 | 7 | 128494540 | 128494540 | | | 7:g.128494540C>T | - | | | NM_001458.5(FLNC):c.6802G>T (p.Glu2268Ter) | 2318 | FLNC | Pathogenic | 1156444972 | RCV001382761; | N | 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 | 7 | 128494541 | 128494541 | | | 128494541 | - | | | NM_001458.5(FLNC):c.6808G>A (p.Glu2270Lys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 202223616 | RCV000728440|RCV001079289|RCV002367748|RCV003403242; | N | 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:171445|MedGen:CN230736|MedGen:CN169374 | 7 | 128494547 | 128494547 | | | 7:g.128494547G>A | ClinGen:CA4476094 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6809A>T (p.Glu2270Val) | 2318 | FLNC | Uncertain significance | 780658670 | RCV001246488|RCV002366082|RCV003145486; | N | 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|MedGen:CN230736|MedGen:CN517202 | 7 | 128494548 | 128494548 | | | 7:g.128494548A>T | - | | | NM_001458.5(FLNC):c.6810G>A (p.Glu2270=) | 2318 | FLNC | Likely benign | 745858001 | RCV000649263|RCV002360632; | N | 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:CN230736 | 7 | 128494549 | 128494549 | | | NC_000007.13:g.128494549G>A | ClinGen:CA4476097 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6812del (p.Asp2271fs) | 2318 | FLNC | Pathogenic | -1 | RCV002852550; | N | 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 | 7 | 128494551 | 128494551 | | | NC_000007.13:g.128494551del | - | | | NM_001458.5(FLNC):c.6816C>T (p.Ser2272=) | 2318 | FLNC | Benign/Likely benign | 375139827 | RCV000649266|RCV001766404|RCV002360633; | N | 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:CN517202|MedGen:CN230736 | 7 | 128494555 | 128494555 | | | NC_000007.13:g.128494555C>T | ClinGen:CA4476098 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6816C>A (p.Ser2272Arg) | 2318 | FLNC | Likely benign | 375139827 | RCV001901532; | N | 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:614065, Orphanet:63273 | 7 | 128494555 | 128494555 | | | 128494555 | - | | | NM_001458.5(FLNC):c.6817G>A (p.Ala2273Thr) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 372251350 | RCV000488163|RCV000694275|RCV002289657|RCV002367662; | N | 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:63273|MONDO:MONDO:0013550,MedGen:C327 | 7 | 128494556 | 128494556 | | | 7:g.128494556G>A | ClinGen:CA4476099 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6823A>G (p.Ser2275Gly) | 2318 | FLNC | Uncertain significance | -1 | RCV002640178; | N | 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 | 7 | 128494562 | 128494562 | | | NC_000007.13:g.128494562A>G | - | | | NM_001458.5(FLNC):c.6825C>T (p.Ser2275=) | 2318 | FLNC | Likely benign | 748970432 | RCV000892643|RCV002363339; | N | 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:CN230736 | 7 | 128494564 | 128494564 | | | 7:g.128494564C>T | - | | | NM_001458.5(FLNC):c.6826G>A (p.Val2276Met) | 2318 | FLNC | Uncertain significance | 1207179287 | RCV001243535|RCV001537610|RCV002366073; | N | MONDO:MONDO: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:CN230736 | 7 | 128494565 | 128494565 | | | 7:g.128494565G>A | - | | | NM_001458.5(FLNC):c.6828G>A (p.Val2276=) | 2318 | FLNC | Benign | -1 | RCV003110442; | N | 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 | 7 | 128494567 | 128494567 | | | | - | | | NM_001458.5(FLNC):c.6829C>T (p.Arg2277Cys) | 2318 | FLNC | Likely benign | 761696270 | RCV002047841; | N | 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 | 7 | 128494568 | 128494568 | | | 128494568 | - | | | NM_001458.5(FLNC):c.6830G>A (p.Arg2277His) | 2318 | FLNC | Uncertain significance | 1186556555 | RCV001069388; | N | 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 | 7 | 128494569 | 128494569 | | | 7:g.128494569G>A | - | | | NM_001458.5(FLNC):c.6841dup (p.Gln2281fs) | 2318 | FLNC | Pathogenic | 2128939496 | RCV001381586; | N | 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 | 7 | 128494576 | 128494577 | | | 128494576 | - | | | NM_001458.5(FLNC):c.6843G>A (p.Gln2281=) | 2318 | FLNC | Uncertain significance | 2128939497 | RCV001921005; | N | 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 | 7 | 128494582 | 128494582 | | | 128494582 | - | | | NM_001458.5(FLNC):c.6845A>G (p.Glu2282Gly) | 2318 | FLNC | Uncertain significance | 1808970524 | RCV001300928; | N | 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 | 7 | 128494584 | 128494584 | | | 128494584 | - | | | NM_001458.5(FLNC):c.6846A>G (p.Glu2282=) | 2318 | FLNC | Likely benign | -1 | RCV003035691; | N | 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 | 7 | 128494585 | 128494585 | | | | - | | | NM_001458.5(FLNC):c.6848T>C (p.Met2283Thr) | 2318 | FLNC | Uncertain significance | 1174754248 | RCV002042906; | N | 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 | 7 | 128494587 | 128494587 | | | 128494587 | - | | | NM_001458.5(FLNC):c.6849G>A (p.Met2283Ile) | 2318 | FLNC | Uncertain significance | 1375490850 | RCV000545355; | N | 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 | 7 | 128494588 | 128494588 | | | 7:g.128494588G>A | ClinGen:CA369213919 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6853C>A (p.Pro2285Thr) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1455006748 | RCV001557922|RCV002570718; | N | MedGen: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 | 7 | 128494592 | 128494592 | | | 128494592 | - | | | NM_001458.5(FLNC):c.6855C>T (p.Pro2285=) | 2318 | FLNC | Likely benign | 772323242 | RCV002159217|RCV002363690; | N | 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:CN230736 | 7 | 128494594 | 128494594 | | | 128494594 | - | | | NM_001458.5(FLNC):c.6860C>T (p.Thr2287Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1434865362 | RCV001298922|RCV002366129; | N | 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 | 7 | 128494599 | 128494599 | | | 128494599 | - | | | NM_001458.5(FLNC):c.6861G>A (p.Thr2287=) | 2318 | FLNC | Likely benign | 773130088 | RCV000955066; | N | 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 | 7 | 128494600 | 128494600 | | | 7:g.128494600G>A | - | | | NM_001458.5(FLNC):c.6862G>C (p.Val2288Leu) | 2318 | FLNC | Uncertain significance | 953084143 | RCV001207187|RCV002365935; | N | 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:CN230736 | 7 | 128494601 | 128494601 | | | 7:g.128494601G>C | - | | | NM_001458.5(FLNC):c.6864_6867dup (p.Val2290fs) | 2318 | FLNC | Pathogenic | 2128939508 | RCV001387812|RCV001699782; | N | 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 | 7 | 128494601 | 128494602 | | | 128494601 | - | | | NM_001458.5(FLNC):c.6864C>T (p.Val2288=) | 2318 | FLNC | Likely benign | 761269440 | RCV000649206|RCV001703223|RCV001701428|RCV002360627; | N | 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:CN517202|MedGen:CN169374|MedGen:CN230736 | 7 | 128494603 | 128494603 | | | NC_000007.13:g.128494603C>T | ClinGen:CA4476106 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6865G>A (p.Ala2289Thr) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 766740877 | RCV000876704|RCV002363307|RCV003145222; | N | 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:CN230736|MedGen:CN517202 | 7 | 128494604 | 128494604 | | | 7:g.128494604G>A | - | | | NM_001458.5(FLNC):c.6877C>T (p.Arg2293Cys) | 2318 | FLNC | Uncertain significance | 571239463 | RCV001299875|RCV001729843|RCV002366132; | N | 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:CN517202|MedGen:CN230736 | 7 | 128494616 | 128494616 | | | 128494616 | - | | | NM_001458.5(FLNC):c.6878G>A (p.Arg2293His) | 2318 | FLNC | Uncertain significance | 1034483511 | RCV000553531|RCV002483477; | N | 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:MONDO:0012289,MedGen:C1836050,OMIM:609524 | 7 | 128494617 | 128494617 | | | 7:g.128494617G>A | ClinGen:CA166191805 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6883C>T (p.Gln2295Ter) | 2318 | FLNC | Pathogenic | 1585169831 | RCV000795762|RCV002466585; | N | 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|EFO:EFO_0000407,Human Phenotype Ontology:HP:000 | 7 | 128494622 | 128494622 | | | 7:g.128494622C>T | - | | | NM_001458.5(FLNC):c.6888C>T (p.His2296=) | 2318 | FLNC | Benign/Likely benign | 375259002 | RCV000529540|RCV001085759|RCV002367924|RCV001700215; | N | 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:171445|MedGen:CN230736|MedGen:CN169374 | 7 | 128494627 | 128494627 | | | 7:g.128494627C>T | ClinGen:CA4476109 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6889G>A (p.Val2297Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1420394583 | RCV000794895|RCV001268782|RCV003166124; | N | 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:CN517202|MedGen:CN230736 | 7 | 128494628 | 128494628 | | | 7:g.128494628G>A | - | | | NM_001458.5(FLNC):c.6890dup (p.Pro2298fs) | 2318 | FLNC | Pathogenic | -1 | RCV002852167; | N | 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 | 7 | 128494628 | 128494629 | | | NC_000007.13:g.128494629dup | - | | | NM_001458.5(FLNC):c.6891G>A (p.Val2297=) | 2318 | FLNC | Likely benign | 1480800568 | RCV001499091; | N | 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 | 7 | 128494630 | 128494630 | | | 128494630 | - | | | NM_001458.5(FLNC):c.6893C>T (p.Pro2298Leu) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1382734231 | RCV000690640|RCV000714271; | N | 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|Human Phenotype Ontology:HP:0001723,MONDO:MONDO | 7 | 128494632 | 128494632 | | | 7:g.128494632C>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6894C>T (p.Pro2298=) | 2318 | FLNC | Likely benign | 765567723 | RCV002073631; | N | 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 | 7 | 128494633 | 128494633 | | | 128494633 | - | | | NM_001458.5(FLNC):c.6895G>A (p.Gly2299Ser) | 2318 | FLNC | Uncertain significance | 756870838 | RCV000545706; | N | 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 | 7 | 128494634 | 128494634 | | | 7:g.128494634G>A | ClinGen:CA369214094 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6905T>C (p.Phe2302Ser) | 2318 | FLNC | Uncertain significance | -1 | RCV002900094; | N | 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 | 7 | 128494644 | 128494644 | | | NC_000007.13:g.128494644T>C | - | | | NM_001458.5(FLNC):c.6907C>T (p.Gln2303Ter) | 2318 | FLNC | Pathogenic | -1 | RCV003097792|RCV003164442; | N | MONDO:MONDO: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:PS1152 | 7 | 128494646 | 128494646 | | | NC_000007.13:g.128494646C>T | - | | | NM_001458.5(FLNC):c.6909G>C (p.Gln2303His) | 2318 | FLNC | Uncertain significance | -1 | RCV003048806; | N | 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 | 7 | 128494648 | 128494648 | | | NC_000007.13:g.128494648G>C | - | | | NM_001458.5(FLNC):c.6912C>G (p.Phe2304Leu) | 2318 | FLNC | Uncertain significance | -1 | RCV002299316; | N | MONDO:MONDO: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 | 7 | 128494651 | 128494651 | | | 128494651 | - | | | NM_001458.5(FLNC):c.6915T>C (p.Thr2305=) | 2318 | FLNC | Likely benign | 1808975093 | RCV001442308; | N | 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 | 7 | 128494654 | 128494654 | | | 128494654 | - | | | NM_001458.5(FLNC):c.6923C>T (p.Pro2308Leu) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 369250297 | RCV000558130|RCV001566239|RCV002367925; | N | 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:CN517202|MedGen:CN230736 | 7 | 128494662 | 128494662 | | | 7:g.128494662C>T | ClinGen:CA4476114 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6924G>A (p.Pro2308=) | 2318 | FLNC | Likely benign | 756083833 | RCV001456954; | N | 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 | 7 | 128494663 | 128494663 | | | 128494663 | - | | | NM_001458.5(FLNC):c.6925C>T (p.Leu2309=) | 2318 | FLNC | Likely benign | 1350109880 | RCV001430117|RCV002368336; | N | 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 | 7 | 128494664 | 128494664 | | | 128494664 | - | | | NM_001458.5(FLNC):c.6932A>C (p.Glu2311Ala) | 2318 | FLNC | Uncertain significance | -1 | RCV002999592; | N | 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 | 7 | 128494671 | 128494671 | | | NC_000007.13:g.128494671A>C | - | | | NM_001458.5(FLNC):c.6938G>A (p.Gly2313Asp) | 2318 | FLNC | Uncertain significance | 1808975955 | RCV001214047; | N | 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 | 7 | 128494677 | 128494677 | | | 7:g.128494677G>A | - | | | NM_001458.5(FLNC):c.6948G>A (p.Lys2316=) | 2318 | FLNC | Likely benign | 1808976729 | RCV002078930; | N | 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 | 7 | 128494687 | 128494687 | | | 128494687 | - | | | NM_001458.5(FLNC):c.6949G>A (p.Val2317Met) | 2318 | FLNC | Uncertain significance | -1 | RCV002825005; | N | 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 | 7 | 128494688 | 128494688 | | | NC_000007.13:g.128494688G>A | - | | | NM_001458.5(FLNC):c.6953G>A (p.Arg2318Gln) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 749235580 | RCV000815107|RCV002363124|RCV003127475; | N | 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|MedGen:CN517202 | 7 | 128494692 | 128494692 | | | 7:g.128494692G>A | - | | | NM_001458.5(FLNC):c.6955del (p.Ala2319fs) | 2318 | FLNC | Pathogenic | 2128939548 | RCV001380147; | N | 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 | 7 | 128494692 | 128494692 | | | 128494691 | - | | | NM_001458.5(FLNC):c.6957del (p.Gly2320fs) | 2318 | FLNC | Pathogenic | -1 | RCV002988572; | N | 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 | 7 | 128494695 | 128494695 | | | NC_000007.13:g.128494696del | - | | | NM_001458.5(FLNC):c.6957C>T (p.Ala2319=) | 2318 | FLNC | Likely benign | 553639480 | RCV000420365|RCV001398879|RCV003298437; | N | 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|MedGen:CN230736 | 7 | 128494696 | 128494696 | | | 7:g.128494696C>T | ClinGen:CA4476118 | CN169374 not specified; | | NM_001458.5(FLNC):c.6957C>G (p.Ala2319=) | 2318 | FLNC | Likely benign | 553639480 | RCV001451444; | N | 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 | 7 | 128494696 | 128494696 | | | 128494696 | - | | | NM_001458.5(FLNC):c.6958G>A (p.Gly2320Arg) | 2318 | FLNC | Likely pathogenic | 867808948 | RCV000534437|RCV000786310; | N | 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:CN517202 | 7 | 128494697 | 128494697 | | | 7:g.128494697G>A | ClinGen:CA166191873 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6963C>T (p.Gly2321=) | 2318 | FLNC | Likely benign | -1 | RCV002633701; | N | 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 | 7 | 128494702 | 128494702 | | | | - | | | NM_001458.5(FLNC):c.6972G>A (p.Leu2324=) | 2318 | FLNC | Likely benign | 1026201839 | RCV001435414; | N | 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 | 7 | 128494711 | 128494711 | | | 128494711 | - | | | NM_001458.5(FLNC):c.6975G>A (p.Glu2325=) | 2318 | FLNC | Likely benign | 778823809 | RCV001479095|RCV002368468; | N | 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:CN230736 | 7 | 128494714 | 128494714 | | | 128494714 | - | | | NM_001458.5(FLNC):c.6976C>T (p.Arg2326Ter) | 2318 | FLNC | Pathogenic | 748416758 | RCV000554323|RCV001571673|RCV002367971|RCV003150276; | N | 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:CN517202|MedGen:CN230736|Human Phenotype | 7 | 128494715 | 128494715 | | | 7:g.128494715C>T | ClinGen:CA4476120 | CN239310 Dilated Cardiomyopathy, Dominant; | | NM_001458.5(FLNC):c.6977G>A (p.Arg2326Gln) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 201028676 | RCV000546923|RCV002377137; | N | 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 | 7 | 128494716 | 128494716 | | | 7:g.128494716G>A | ClinGen:CA4476121 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6982G>A (p.Val2328Met) | 2318 | FLNC | Pathogenic | 2128939561 | RCV001973664; | N | 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 | 7 | 128494721 | 128494721 | | | 128494721 | - | | | NM_001458.5(FLNC):c.6986C>G (p.Ala2329Gly) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 746991573 | RCV000696383|RCV003303151|RCV003238803; | N | 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|MedGen:CN517202 | 7 | 128494725 | 128494725 | | | 7:g.128494725C>G | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6987C>T (p.Ala2329=) | 2318 | FLNC | Likely benign | 771037016 | RCV000532872|RCV002367923|RCV001571883; | N | 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:C3661900 | 7 | 128494726 | 128494726 | | | NC_000007.13:g.128494726C>T | ClinGen:CA4476124 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6987C>A (p.Ala2329=) | 2318 | FLNC | Uncertain significance | -1 | RCV003080405; | N | 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 | 7 | 128494726 | 128494726 | | | | - | | | NM_001458.5(FLNC):c.6988G>A (p.Gly2330Ser) | 2318 | FLNC | Benign/Likely benign | 527248119 | RCV000559622|RCV002367926|RCV001700216|RCV001701077; | N | 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:C3661900|MedGen:CN169374 | 7 | 128494727 | 128494727 | | | 7:g.128494727G>A | ClinGen:CA4476125 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6990C>T (p.Gly2330=) | 2318 | FLNC | Benign | -1 | RCV002715035; | N | 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 | 7 | 128494729 | 128494729 | | | | - | | | NM_001458.5(FLNC):c.6991G>A (p.Val2331Met) | 2318 | FLNC | Benign/Likely benign | 191288058 | RCV000649269|RCV000729933|RCV001595030|RCV002360634; | N | 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:C3661900|MedGen:CN230736 | 7 | 128494730 | 128494730 | | | NC_000007.13:g.128494730G>A | ClinGen:CA4476127 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6991G>T (p.Val2331Leu) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 191288058 | RCV001230630|RCV003166407; | N | 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:CN230736 | 7 | 128494730 | 128494730 | | | 7:g.128494730G>T | - | | | NM_001458.5(FLNC):c.6997+1G>T | 2318 | FLNC | Likely pathogenic | 1585169973 | RCV000795916; | N | 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 | 7 | 128494737 | 128494737 | | | 7:g.128494737G>T | - | | | NM_001458.5(FLNC):c.6997+4A>G | 2318 | FLNC | Uncertain significance | 1227552125 | RCV000689737|RCV002360732; | N | 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:CN230736 | 7 | 128494740 | 128494740 | | | 7:g.128494740A>G | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6998-20A>G | 2318 | FLNC | Likely benign | -1 | RCV002587867; | N | 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 | 7 | 128494809 | 128494809 | | | NC_000007.13:g.128494809A>G | - | | | NM_001458.5(FLNC):c.6998-19C>G | 2318 | FLNC | Likely benign | 1187236355 | RCV002150698; | N | MONDO:MONDO: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 | 7 | 128494810 | 128494810 | | | 128494810 | - | | | NM_001458.5(FLNC):c.6998-10C>T | 2318 | FLNC | Likely benign | 1427937152 | RCV000535665; | N | 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 | 7 | 128494819 | 128494819 | | | 7:g.128494819C>T | ClinGen:CA578150657 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6998-9T>A | 2318 | FLNC | Uncertain significance | -1 | RCV002928378; | N | 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 | 7 | 128494820 | 128494820 | | | NC_000007.13:g.128494820T>A | - | | | NM_001458.5(FLNC):c.6998-6C>G | 2318 | FLNC | Likely benign | 1336346022 | RCV001036305; | N | 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 | 7 | 128494823 | 128494823 | | | 7:g.128494823C>G | - | | | NM_001458.5(FLNC):c.6998-6C>T | 2318 | FLNC | Uncertain significance | 1336346022 | RCV001345257; | N | 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 | 7 | 128494823 | 128494823 | | | 128494823 | - | | | NM_001458.5(FLNC):c.6998-5C>T | 2318 | FLNC | Conflicting interpretations of pathogenicity | 139030003 | RCV000724252|RCV001081189|RCV001795298|RCV002362918; | N | 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:CN169374|MedGen:CN230736 | 7 | 128494824 | 128494824 | | | 7:g.128494824C>T | ClinGen:CA245627 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.6998-4C>G | 2318 | FLNC | Likely benign | -1 | RCV003062890; | N | 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 | 7 | 128494825 | 128494825 | | | NC_000007.13:g.128494825C>G | - | | | NM_001458.5(FLNC):c.6999C>T (p.Ala2333=) | 2318 | FLNC | Likely benign | 201735453 | RCV001402319|RCV002377611; | N | 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 | 7 | 128494830 | 128494830 | | | 128494830 | - | | | NM_001458.5(FLNC):c.7000G>A (p.Glu2334Lys) | 2318 | FLNC | Uncertain significance | 1808984299 | RCV001064782|RCV001572354; | N | 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:CN517202 | 7 | 128494831 | 128494831 | | | 7:g.128494831G>A | - | | | NM_001458.5(FLNC):c.7007G>T (p.Ser2336Ile) | 2318 | FLNC | Uncertain significance | -1 | RCV003030167; | N | 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 | 7 | 128494838 | 128494838 | | | NC_000007.13:g.128494838G>T | - | | | NM_001458.5(FLNC):c.7014G>A (p.Trp2338Ter) | 2318 | FLNC | Pathogenic | 2128939606 | RCV001928000; | N | 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 | 7 | 128494845 | 128494845 | | | 128494845 | - | | | NM_001458.5(FLNC):c.7016C>T (p.Thr2339Ile) | 2318 | FLNC | Uncertain significance | 1554401463 | RCV000528979; | N | 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 | 7 | 128494847 | 128494847 | | | 7:g.128494847C>T | ClinGen:CA369214932 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7018C>T (p.Arg2340Trp) | 2318 | FLNC | Uncertain significance | 2128939610 | RCV001895845|RCV003407891|RCV002361160; | N | 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:CN230736 | 7 | 128494849 | 128494849 | | | 128494849 | - | | | NM_001458.5(FLNC):c.7023G>A (p.Glu2341=) | 2318 | FLNC | Likely benign | 2128939611 | RCV001468545; | N | 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 | 7 | 128494854 | 128494854 | | | 128494854 | - | | | NM_001458.5(FLNC):c.7025C>T (p.Ala2342Val) | 2318 | FLNC | Uncertain significance | 2128939613 | RCV001967350; | N | 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:614065, Orphanet:63273 | 7 | 128494856 | 128494856 | | | 128494856 | - | | | NM_001458.5(FLNC):c.7029C>T (p.Gly2343=) | 2318 | FLNC | Likely benign | 770236960 | RCV001472847|RCV002363366; | N | 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 | 7 | 128494860 | 128494860 | | | 7:g.128494860C>T | - | | | NM_001458.5(FLNC):c.7030G>C (p.Ala2344Pro) | 2318 | FLNC | Uncertain significance | 529917784 | RCV001322770; | N | 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 | 7 | 128494861 | 128494861 | | | 128494861 | - | | | NM_001458.5(FLNC):c.7030G>A (p.Ala2344Thr) | 2318 | FLNC | Uncertain significance | 529917784 | RCV001341630; | N | MONDO:MONDO: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 | 7 | 128494861 | 128494861 | | | 128494861 | - | | | NM_001458.5(FLNC):c.7038C>A (p.Gly2346=) | 2318 | FLNC | Likely benign | 763377116 | RCV000917632|RCV001796314|RCV002372550; | N | 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:C3661900|MedGen:CN230736 | 7 | 128494869 | 128494869 | | | 7:g.128494869C>A | - | | | NM_001458.5(FLNC):c.7041G>A (p.Leu2347=) | 2318 | FLNC | Likely benign | 772789448 | RCV000649199|RCV002369736; | N | 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:CN230736 | 7 | 128494872 | 128494872 | | | NC_000007.13:g.128494872G>A | ClinGen:CA4476147 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7047T>C (p.Ile2349=) | 2318 | FLNC | Likely benign | 760345428 | RCV000649262; | N | 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 | 7 | 128494878 | 128494878 | | | NC_000007.13:g.128494878T>C | ClinGen:CA4476148 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7055A>T (p.Glu2352Val) | 2318 | FLNC | Uncertain significance | -1 | RCV003121900; | N | 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 | 7 | 128494886 | 128494886 | | | NC_000007.13:g.128494886A>T | - | | | NM_001458.5(FLNC):c.7066A>G (p.Lys2356Glu) | 2318 | FLNC | Uncertain significance | 2128939626 | RCV002049694; | N | MONDO:MONDO: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 | 7 | 128494897 | 128494897 | | | 128494897 | - | | | NM_001458.5(FLNC):c.7070_7072del (p.Ala2357del) | 2318 | FLNC | Uncertain significance | 1554401479 | RCV000536015; | N | 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 | 7 | 128494900 | 128494902 | | | 7:g.128494900_128494902del | ClinGen:CA658657725 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7070C>T (p.Ala2357Val) | 2318 | FLNC | Uncertain significance | 765841097 | RCV001951749|RCV002361307; | N | 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:CN230736 | 7 | 128494901 | 128494901 | | | 128494901 | - | | | NM_001458.5(FLNC):c.7071G>A (p.Ala2357=) | 2318 | FLNC | Likely benign | 753353216 | RCV001504669|RCV002368532; | N | MONDO:MONDO: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:CN230736 | 7 | 128494902 | 128494902 | | | 128494902 | - | | | NM_001458.5(FLNC):c.7072G>A (p.Glu2358Lys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 370769744 | RCV001890643|RCV003150464; | N | 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|Human Phenotype Ontology:HP:0001638,MONDO:MONDO | 7 | 128494903 | 128494903 | | | 128494903 | - | | | NM_001458.5(FLNC):c.7075A>G (p.Ile2359Val) | 2318 | FLNC | Uncertain significance | 1554401481 | RCV000548516; | N | 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 | 7 | 128494906 | 128494906 | | | 7:g.128494906A>G | ClinGen:CA369215176 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7078G>A (p.Ala2360Thr) | 2318 | FLNC | Uncertain significance | 1390516682 | RCV000524806|RCV002282225; | N | 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 | 7 | 128494909 | 128494909 | | | 7:g.128494909G>A | ClinGen:CA369215190 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7078G>C (p.Ala2360Pro) | 2318 | FLNC | Uncertain significance | -1 | RCV003021438|RCV003146729; | N | 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:CN517202 | 7 | 128494909 | 128494909 | | | NC_000007.13:g.128494909G>C | - | | | NM_001458.5(FLNC):c.7080A>G (p.Ala2360=) | 2318 | FLNC | Likely benign | 1554401489 | RCV000649193; | N | 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 | 7 | 128494911 | 128494911 | | | NC_000007.13:g.128494911A>G | ClinGen:CA457588070 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7090C>A (p.Arg2364Ser) | 2318 | FLNC | Uncertain significance | 374973240 | RCV000796521; | N | 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 | 7 | 128494921 | 128494921 | | | 7:g.128494921C>A | - | | | NM_001458.5(FLNC):c.7090C>T (p.Arg2364Cys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 374973240 | RCV000822078|RCV001357140|RCV002307631|RCV002363167|RCV002495178|RCV003396451; | N | 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:CN169374|MedGen:CN230736 | 7 | 128494921 | 128494921 | | | 7:g.128494921C>T | - | | | NM_001458.5(FLNC):c.7091G>A (p.Arg2364His) | 2318 | FLNC | Benign/Likely benign | 201672146 | RCV000178492|RCV000541798|RCV002292480|RCV002362917; | N | MedGen: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:CN230736 | 7 | 128494922 | 128494922 | | | 7:g.128494922G>A | ClinGen:CA202899 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7094A>G (p.Lys2365Arg) | 2318 | FLNC | Uncertain significance | 751765487 | RCV000805137|RCV003166243; | N | 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 | 7 | 128494925 | 128494925 | | | 7:g.128494925A>G | - | | | NM_001458.5(FLNC):c.7104C>T (p.Ser2368=) | 2318 | FLNC | Likely benign | 1585170155 | RCV001435976; | N | 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 | 7 | 128494935 | 128494935 | | | 7:g.128494935C>T | - | | | NM_001458.5(FLNC):c.7106G>A (p.Cys2369Tyr) | 2318 | FLNC | Uncertain significance | 2128939641 | RCV001974167|RCV003146441; | N | 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:C3661900 | 7 | 128494937 | 128494937 | | | 128494937 | - | | | NM_001458.5(FLNC):c.7107C>T (p.Cys2369=) | 2318 | FLNC | Likely benign | 781154278 | RCV000649209|RCV002360628; | N | 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:CN230736 | 7 | 128494938 | 128494938 | | | NC_000007.13:g.128494938C>T | ClinGen:CA4476157 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7108G>A (p.Gly2370Ser) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 201917318 | RCV000497397|RCV000697254|RCV002506204|RCV002367676; | N | MedGen: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:C327 | 7 | 128494939 | 128494939 | | | 7:g.128494939G>A | ClinGen:CA4476158 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7110C>A (p.Gly2370=) | 2318 | FLNC | Likely benign | 770288312 | RCV000649195; | N | 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 | 7 | 128494941 | 128494941 | | | NC_000007.13:g.128494941C>A | ClinGen:CA457588201 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7111G>A (p.Val2371Ile) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 552252122 | RCV000649141|RCV002360624|RCV003150320; | N | 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:CN230736|Human Phenotype Ontology:HP:000 | 7 | 128494942 | 128494942 | | | 7:g.128494942G>A | ClinGen:CA4476160 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7118A>T (p.Tyr2373Phe) | 2318 | FLNC | Uncertain significance | 1021731214 | RCV001897008; | N | 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 | 7 | 128494949 | 128494949 | | | 128494949 | - | | | NM_001458.5(FLNC):c.7122C>T (p.Val2374=) | 2318 | FLNC | Likely benign | 374711133 | RCV000906275|RCV002372526; | N | 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:CN230736 | 7 | 128494953 | 128494953 | | | 7:g.128494953C>T | - | | | NM_001458.5(FLNC):c.7123G>A (p.Val2375Ile) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 768941858 | RCV000692071|RCV001766484|RCV002360746; | N | 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:CN517202|MedGen:CN230736 | 7 | 128494954 | 128494954 | | | 7:g.128494954G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7135+6C>T | 2318 | FLNC | Uncertain significance | 774739675 | RCV001225990; | N | 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 | 7 | 128494972 | 128494972 | | | 7:g.128494972C>T | - | | | NM_001458.5(FLNC):c.7135+7G>A | 2318 | FLNC | Likely benign | 760271102 | RCV000925379; | N | 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:614065, Orphanet:63273 | 7 | 128494973 | 128494973 | | | 7:g.128494973G>A | - | | | NM_001458.5(FLNC):c.7135+9C>A | 2318 | FLNC | Likely benign | 2128939656 | RCV002123280; | N | 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 | 7 | 128494975 | 128494975 | | | 128494975 | - | | | NM_001458.5(FLNC):c.7135+10C>T | 2318 | FLNC | Likely benign | -1 | RCV003084378; | N | 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 | 7 | 128494976 | 128494976 | | | NC_000007.13:g.128494976C>T | - | | | NM_001458.5(FLNC):c.7135+13A>T | 2318 | FLNC | Likely benign | 2128939658 | RCV002187928; | N | 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 | 7 | 128494979 | 128494979 | | | 128494979 | - | | | NM_001458.5(FLNC):c.7135+13A>C | 2318 | FLNC | Likely benign | -1 | RCV002781129; | N | 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 | 7 | 128494979 | 128494979 | | | NC_000007.13:g.128494979A>C | - | | | NM_001458.5(FLNC):c.7136-10C>G | 2318 | FLNC | Likely benign | 982485834 | RCV000977971; | N | MONDO:MONDO: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 | 7 | 128495243 | 128495243 | | | 7:g.128495243C>G | - | | | NM_001458.5(FLNC):c.7136-8C>T | 2318 | FLNC | Likely benign | 2128939734 | RCV002211486; | N | 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 | 7 | 128495245 | 128495245 | | | 128495245 | - | | | NM_001458.5(FLNC):c.7136-6C>A | 2318 | FLNC | Likely benign | 368292177 | RCV000554541|RCV001722506|RCV002476184; | N | 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|MONDO:MONDO:0012289,MedGen:C183 | 7 | 128495247 | 128495247 | | | NC_000007.13:g.128495247C>A | ClinGen:CA4476179 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7136-4C>T | 2318 | FLNC | Likely benign | 938369758 | RCV001438056; | N | 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 | 7 | 128495249 | 128495249 | | | 7:g.128495249C>T | - | | | NM_001458.5(FLNC):c.7138G>C (p.Asp2380His) | 2318 | FLNC | Uncertain significance | 1334300883 | RCV000649131; | N | 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 | 7 | 128495255 | 128495255 | | | NC_000007.13:g.128495255G>C | ClinGen:CA369215503 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7138G>A (p.Asp2380Asn) | 2318 | FLNC | Uncertain significance | 1334300883 | RCV002003232; | N | 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 | 7 | 128495255 | 128495255 | | | 128495255 | - | | | NM_001458.5(FLNC):c.7146G>A (p.Glu2382=) | 2318 | FLNC | Likely benign | 779162678 | RCV000649211|RCV001545774|RCV002360629; | N | 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:CN517202|MedGen:CN230736 | 7 | 128495263 | 128495263 | | | NC_000007.13:g.128495263G>A | ClinGen:CA4476181 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7149C>T (p.Val2383=) | 2318 | FLNC | Likely benign | 970004617 | RCV001911016|RCV003289181; | N | 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 | 7 | 128495266 | 128495266 | | | 128495266 | - | | | NM_001458.5(FLNC):c.7151C>T (p.Ser2384Phe) | 2318 | FLNC | Uncertain significance | 1219809283 | RCV001757153|RCV002538860; | N | MedGen: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 | 7 | 128495268 | 128495268 | | | 128495268 | - | | | NM_001458.5(FLNC):c.7158G>A (p.Lys2386=) | 2318 | FLNC | Likely benign | 1554401556 | RCV000649197; | N | 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 | 7 | 128495275 | 128495275 | | | NC_000007.13:g.128495275G>A | ClinGen:CA457588420 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7164T>C (p.Asn2388=) | 2318 | FLNC | Likely benign | 1000562422 | RCV001451282|RCV003298770; | N | 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 | 7 | 128495281 | 128495281 | | | 128495281 | - | | | NM_001458.5(FLNC):c.7171C>T (p.His2391Tyr) | 2318 | FLNC | Uncertain significance | 1554401558 | RCV000649066; | N | 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 | 7 | 128495288 | 128495288 | | | NC_000007.13:g.128495288C>T | ClinGen:CA369215679 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7173C>T (p.His2391=) | 2318 | FLNC | Likely benign | 1188007382 | RCV002095378; | N | 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 | 7 | 128495290 | 128495290 | | | 128495290 | - | | | NM_001458.5(FLNC):c.7176C>G (p.Ile2392Met) | 2318 | FLNC | Uncertain significance | 1585170543 | RCV000818294|RCV003279106; | N | 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|MeSH:D030342,MedGen:C0950123 | 7 | 128495293 | 128495293 | | | 7:g.128495293C>G | - | | | NM_001458.5(FLNC):c.7177C>G (p.Pro2393Ala) | 2318 | FLNC | Uncertain significance | 1554401559 | RCV000649123; | N | 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 | 7 | 128495294 | 128495294 | | | NC_000007.13:g.128495294C>G | ClinGen:CA369215708 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7178C>T (p.Pro2393Leu) | 2318 | FLNC | Uncertain significance | 2128939746 | RCV001976626; | N | 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 | 7 | 128495295 | 128495295 | | | 128495295 | - | | | NM_001458.5(FLNC):c.7178C>G (p.Pro2393Arg) | 2318 | FLNC | Uncertain significance | -1 | RCV003056099; | N | 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 | 7 | 128495295 | 128495295 | | | NC_000007.13:g.128495295C>G | - | | | NM_001458.5(FLNC):c.7180G>C (p.Asp2394His) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1554401561 | RCV000649103|RCV000853258; | N | 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|MONDO:MONDO:0024573,MeSH:D024741,MedGen:C094965 | 7 | 128495297 | 128495297 | | | NC_000007.13:g.128495297G>C | ClinGen:CA369215723 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7182C>T (p.Asp2394=) | 2318 | FLNC | Likely benign | 769465229 | RCV001468402; | N | 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 | 7 | 128495299 | 128495299 | | | 128495299 | - | | | NM_001458.5(FLNC):c.7185C>T (p.Ser2395=) | 2318 | FLNC | Benign/Likely benign | 199880128 | RCV000526014|RCV002497178|RCV002377138|RCV001558061; | N | 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:C3279722,OMIM:614065 | 7 | 128495302 | 128495302 | | | 7:g.128495302C>T | ClinGen:CA4476187 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7186C>T (p.Pro2396Ser) | 2318 | FLNC | Uncertain significance | 1809007749 | RCV001915885; | N | 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 | 7 | 128495303 | 128495303 | | | 128495303 | - | | | NM_001458.5(FLNC):c.7195G>A (p.Val2399Met) | 2318 | FLNC | Uncertain significance | 2128939752 | RCV002004388; | N | 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 | 7 | 128495312 | 128495312 | | | 128495312 | - | | | NM_001458.5(FLNC):c.7197G>A (p.Val2399=) | 2318 | FLNC | Likely benign | 1170465988 | RCV002093565; | N | 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 | 7 | 128495314 | 128495314 | | | 128495314 | - | | | NM_001458.5(FLNC):c.7198C>G (p.Pro2400Ala) | 2318 | FLNC | Uncertain significance | 1390223951 | RCV000792374; | N | 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 | 7 | 128495315 | 128495315 | | | 7:g.128495315C>G | - | | | NM_001458.5(FLNC):c.7198C>T (p.Pro2400Ser) | 2318 | FLNC | Uncertain significance | 1390223951 | RCV001752403|RCV002544097; | N | 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 | 7 | 128495315 | 128495315 | | | 128495315 | - | | | NM_001458.5(FLNC):c.7201G>A (p.Val2401Met) | 2318 | FLNC | Uncertain significance | 868744958 | RCV001923024|RCV003146347; | N | 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 | 7 | 128495318 | 128495318 | | | 128495318 | - | | | NM_001458.5(FLNC):c.7204G>C (p.Ala2402Pro) | 2318 | FLNC | Uncertain significance | -1 | RCV003005077; | N | 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 | 7 | 128495321 | 128495321 | | | NC_000007.13:g.128495321G>C | - | | | NM_001458.5(FLNC):c.7207T>C (p.Ser2403Pro) | 2318 | FLNC | Uncertain significance | -1 | RCV002725422; | N | 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 | 7 | 128495324 | 128495324 | | | NC_000007.13:g.128495324T>C | - | | | NM_001458.5(FLNC):c.7210C>T (p.Leu2404Phe) | 2318 | FLNC | Uncertain significance | 764034824 | RCV001372091; | N | 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 | 7 | 128495327 | 128495327 | | | 128495327 | - | | | NM_001458.5(FLNC):c.7212C>T (p.Leu2404=) | 2318 | FLNC | Likely benign | 1809008715 | RCV002205580; | N | MONDO:MONDO: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 | 7 | 128495329 | 128495329 | | | 128495329 | - | | | NM_001458.5(FLNC):c.7214C>T (p.Ser2405Leu) | 2318 | FLNC | Uncertain significance | 2128939759 | RCV002006275|RCV002370658|RCV003317566; | N | 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:CN230736|MedGen:C3661900 | 7 | 128495331 | 128495331 | | | 128495331 | - | | | NM_001458.5(FLNC):c.7215G>A (p.Ser2405=) | 2318 | FLNC | Benign/Likely benign | 774019775 | RCV000538735|RCV002377139; | N | 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:CN230736 | 7 | 128495332 | 128495332 | | | NC_000007.13:g.128495332G>A | ClinGen:CA4476190 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7217A>T (p.Asp2406Val) | 2318 | FLNC | Uncertain significance | -1 | RCV002625057; | N | 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 | 7 | 128495334 | 128495334 | | | NC_000007.13:g.128495334A>T | - | | | NM_001458.5(FLNC):c.7221C>T (p.Asp2407=) | 2318 | FLNC | Benign | 3816885 | RCV000117082|RCV000711694|RCV001517752|RCV002371950; | N | MedGen: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:CN230736 | 7 | 128495338 | 128495338 | | | 7:g.128495338C>T | ClinGen:CA152880 | CN169374 not specified; | | NM_001458.5(FLNC):c.7222G>A (p.Ala2408Thr) | 2318 | FLNC | Uncertain significance | 376257910 | RCV000649073|RCV002369735; | N | 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:CN230736 | 7 | 128495339 | 128495339 | | | NC_000007.13:g.128495339G>A | ClinGen:CA166193551 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7224T>G (p.Ala2408=) | 2318 | FLNC | Likely benign | 2128939770 | RCV002159723; | N | 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 | 7 | 128495341 | 128495341 | | | 128495341 | - | | | NM_001458.5(FLNC):c.7225C>T (p.Arg2409Cys) | 2318 | FLNC | Uncertain significance | 1244377387 | RCV001235390; | N | 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 | 7 | 128495342 | 128495342 | | | 7:g.128495342C>T | - | | | NM_001458.5(FLNC):c.7226G>A (p.Arg2409His) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 767279710 | RCV000649059|RCV002369734|RCV002470940|RCV003144433; | N | 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:CN230736|MONDO:MONDO:0014883,MedGen:C431 | 7 | 128495343 | 128495343 | | | NC_000007.13:g.128495343G>A | ClinGen:CA4476191 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7227C>T (p.Arg2409=) | 2318 | FLNC | Likely benign | 1809009738 | RCV001459196; | N | 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:614065, Orphanet:63273 | 7 | 128495344 | 128495344 | | | 128495344 | - | | | NM_001458.5(FLNC):c.7228C>T (p.Arg2410Cys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 750686083 | RCV001242147|RCV002491809|RCV003145469; | N | 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:0013550,MedGen:C3279722,OMIM:614065 | 7 | 128495345 | 128495345 | | | 7:g.128495345C>T | - | | | NM_001458.5(FLNC):c.7229G>A (p.Arg2410His) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 558239439 | RCV000555744|RCV002377140|RCV003224331|RCV003144358; | N | 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:0013550,MedGen:C327 | 7 | 128495346 | 128495346 | | | 7:g.128495346G>A | ClinGen:CA4476193 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7235_7236del (p.Thr2412fs) | 2318 | FLNC | Pathogenic/Likely pathogenic | -1 | RCV002371023|RCV002463377|RCV003103376; | N | MedGen: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, | 7 | 128495352 | 128495353 | | | 128495351 | - | | | NM_001458.5(FLNC):c.7235C>T (p.Thr2412Ile) | 2318 | FLNC | Uncertain significance | -1 | RCV002750204; | N | 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 | 7 | 128495352 | 128495352 | | | NC_000007.13:g.128495352C>T | - | | | NM_001458.5(FLNC):c.7238T>C (p.Val2413Ala) | 2318 | FLNC | Uncertain significance | -1 | RCV002305312; | N | 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 | 7 | 128495355 | 128495355 | | | 128495355 | - | | | NM_001458.5(FLNC):c.7251+1G>A | 2318 | FLNC | Pathogenic | 1554401581 | RCV000649067|RCV003235326; | N | 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|MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047 | 7 | 128495369 | 128495369 | | | NC_000007.13:g.128495369G>A | ClinGen:CA369216134,OMIM:102565.0013 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7251+1G>T | 2318 | FLNC | Pathogenic | 1554401581 | RCV001065788; | N | 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 | 7 | 128495369 | 128495369 | | | 7:g.128495369G>T | - | | | NM_001458.5(FLNC):c.7251+4T>G | 2318 | FLNC | Uncertain significance | 1389522053 | RCV001225607; | N | 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 | 7 | 128495372 | 128495372 | | | 7:g.128495372T>G | - | | | NM_001458.5(FLNC):c.7251+7G>A | 2318 | FLNC | Likely benign | 1809010910 | RCV001401690; | N | 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 | 7 | 128495375 | 128495375 | | | 128495375 | - | | | NM_001458.5(FLNC):c.7251+13G>A | 2318 | FLNC | Likely benign | 367952484 | RCV002135628; | N | MONDO:MONDO: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 | 7 | 128495381 | 128495381 | | | 128495381 | - | | | NM_001458.5(FLNC):c.7251+16G>A | 2318 | FLNC | Likely benign | 573245805 | RCV002188701; | N | 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 | 7 | 128495384 | 128495384 | | | 128495384 | - | | | NM_001458.5(FLNC):c.7251+16G>C | 2318 | FLNC | Likely benign | -1 | RCV003064816; | N | 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 | 7 | 128495384 | 128495384 | | | NC_000007.13:g.128495384G>C | - | | | NM_001458.5(FLNC):c.7251+20G>T | 2318 | FLNC | Likely benign | 758879860 | RCV002101221; | N | 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 | 7 | 128495388 | 128495388 | | | 128495388 | - | | | NM_001458.5(FLNC):c.7252-14C>T | 2318 | FLNC | Likely benign | -1 | RCV002912469; | N | 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 | 7 | 128496558 | 128496558 | | | NC_000007.13:g.128496558C>T | - | | | NM_001458.5(FLNC):c.7252-12T>C | 2318 | FLNC | Uncertain significance | -1 | RCV002603213; | N | 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 | 7 | 128496560 | 128496560 | | | NC_000007.13:g.128496560T>C | - | | | NM_001458.5(FLNC):c.7256C>T (p.Thr2419Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 199768217 | RCV000884086|RCV001199262|RCV001530834|RCV002372507; | N | 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:0014883,MedGen:C4310749,OMIM:617047 | 7 | 128496576 | 128496576 | | | 7:g.128496576C>T | - | | | NM_001458.5(FLNC):c.7257G>A (p.Thr2419=) | 2318 | FLNC | Likely benign | 201008333 | RCV000956342|RCV002372663; | N | 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 | 7 | 128496577 | 128496577 | | | 7:g.128496577G>A | - | | | NM_001458.5(FLNC):c.7260G>A (p.Gly2420=) | 2318 | FLNC | Likely benign | 755831714 | RCV001431937; | N | 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 | 7 | 128496580 | 128496580 | | | 7:g.128496580G>A | - | | | NM_001458.5(FLNC):c.7261del (p.Leu2421fs) | 2318 | FLNC | Pathogenic | 2128940107 | RCV001381990; | N | 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 | 7 | 128496581 | 128496581 | | | 128496580 | - | | | NM_001458.5(FLNC):c.7263C>G (p.Leu2421=) | 2318 | FLNC | Likely benign | 2128940109 | RCV001457186; | N | 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 | 7 | 128496583 | 128496583 | | | 128496583 | - | | | NM_001458.5(FLNC):c.7268T>A (p.Val2423Glu) | 2318 | FLNC | Uncertain significance | -1 | RCV003037483; | N | 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 | 7 | 128496588 | 128496588 | | | NC_000007.13:g.128496588T>A | - | | | NM_001458.5(FLNC):c.7275G>C (p.Gln2425His) | 2318 | FLNC | Uncertain significance | 2128940112 | RCV001362160; | N | 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 | 7 | 128496595 | 128496595 | | | 128496595 | - | | | NM_001458.5(FLNC):c.7278A>G (p.Pro2426=) | 2318 | FLNC | Likely benign | 2128940114 | RCV002120731; | N | 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 | 7 | 128496598 | 128496598 | | | 128496598 | - | | | NM_001458.5(FLNC):c.7280C>T (p.Ala2427Val) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 1343869103 | RCV000788664|RCV000794882|RCV003117578|RCV003279061; | N | MedGen: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:000 | 7 | 128496600 | 128496600 | | | 7:g.128496600C>T | - | | | NM_001458.5(FLNC):c.7281G>A (p.Ala2427=) | 2318 | FLNC | Benign/Likely benign | 186451916 | RCV000530793|RCV001704479|RCV002379359; | N | 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:CN230736 | 7 | 128496601 | 128496601 | | | 7:g.128496601G>A | ClinGen:CA4476221 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 200516164 | RCV000178551|RCV000649080|RCV000764688|RCV002381577|RCV003155106; | N | 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|MONDO:MONDO:0013550,MedGen:C327 | 7 | 128496609 | 128496609 | | | 7:g.128496609C>T | ClinGen:CA245692,UniProtKB:Q14315#VAR_077043 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7290C>T (p.Ala2430=) | 2318 | FLNC | Likely benign | 373240622 | RCV000538942|RCV002384212; | N | 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:CN230736 | 7 | 128496610 | 128496610 | | | 7:g.128496610C>T | ClinGen:CA4476222 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7291G>A (p.Val2431Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 572952653 | RCV000592671|RCV001085992|RCV002384213; | N | 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:171445|MedGen:CN230736 | 7 | 128496611 | 128496611 | | | 7:g.128496611G>A | ClinGen:CA4476223 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7294C>T (p.Gln2432Ter) | 2318 | FLNC | Pathogenic | 1554401756 | RCV000542796; | N | 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 | 7 | 128496614 | 128496614 | | | NC_000007.13:g.128496614C>T | ClinGen:CA369216620 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7299G>A (p.Leu2433=) | 2318 | FLNC | Likely benign | 772998551 | RCV001488860|RCV002382181; | N | 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:CN230736 | 7 | 128496619 | 128496619 | | | 7:g.128496619G>A | - | | | NM_001458.5(FLNC):c.7302C>T (p.Asn2434=) | 2318 | FLNC | Likely benign | 760533029 | RCV000982370|RCV003424516; | N | MONDO:MONDO: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 | 7 | 128496622 | 128496622 | | | 7:g.128496622C>T | - | | | NM_001458.5(FLNC):c.7303G>A (p.Gly2435Ser) | 2318 | FLNC | Uncertain significance | -1 | RCV002917906; | N | 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 | 7 | 128496623 | 128496623 | | | NC_000007.13:g.128496623G>A | - | | | NM_001458.5(FLNC):c.7313_7330dup (p.Gly2438_Arg2443dup) | 2318 | FLNC | Uncertain significance | 1554401762 | RCV000532285; | N | 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 | 7 | 128496624 | 128496625 | | | NC_000007.13:g.128496633_128496650dup | ClinGen:CA658657726 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7309dup (p.Arg2437fs) | 2318 | FLNC | Pathogenic | 2128940130 | RCV001962386; | N | 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 | 7 | 128496626 | 128496627 | | | 128496626 | - | | | NM_001458.5(FLNC):c.7309C>T (p.Arg2437Trp) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 756353876 | RCV000703314|RCV001771996|RCV002386260; | N | 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:CN517202|MedGen:CN230736 | 7 | 128496629 | 128496629 | | | 7:g.128496629C>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7310G>A (p.Arg2437Gln) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 201762568 | RCV000649109|RCV002386093|RCV002477440|RCV003144439; | N | 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|MONDO:MONDO:0012289,MedGen:C183 | 7 | 128496630 | 128496630 | | | NC_000007.13:g.128496630G>A | ClinGen:CA4476230 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7313G>A (p.Gly2438Asp) | 2318 | FLNC | Uncertain significance | 2128940134 | RCV002025410; | N | 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 | 7 | 128496633 | 128496633 | | | 128496633 | - | | | NM_001458.5(FLNC):c.7314C>T (p.Gly2438=) | 2318 | FLNC | Likely benign | 765385925 | RCV000883992|RCV001464876|RCV002382032; | N | MedGen: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:CN230736 | 7 | 128496634 | 128496634 | | | 7:g.128496634C>T | - | | | NM_001458.5(FLNC):c.7314C>A (p.Gly2438=) | 2318 | FLNC | Likely benign | 765385925 | RCV001488380; | N | 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 | 7 | 128496634 | 128496634 | | | 128496634 | - | | | NM_001458.5(FLNC):c.7315G>A (p.Val2439Met) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 752667511 | RCV001342074|RCV002384463; | N | 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:CN230736 | 7 | 128496635 | 128496635 | | | 128496635 | - | | | NM_001458.5(FLNC):c.7319T>C (p.Ile2440Thr) | 2318 | FLNC | Uncertain significance | 764628080 | RCV000649115|RCV001771893|RCV002531938; | N | 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:CN517202|MeSH:D030342,MedGen:C0950123 | 7 | 128496639 | 128496639 | | | NC_000007.13:g.128496639T>C | ClinGen:CA4476234 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7323T>A (p.Asp2441Glu) | 2318 | FLNC | Uncertain significance | 752106552 | RCV002041534; | N | 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 | 7 | 128496643 | 128496643 | | | 128496643 | - | | | NM_001458.5(FLNC):c.7324G>T (p.Ala2442Ser) | 2318 | FLNC | Uncertain significance | 1160639957 | RCV001903411|RCV002512164; | N | 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:614065, Orphanet:63273|MedGen:C3661900 | 7 | 128496644 | 128496644 | | | 128496644 | - | | | NM_001458.5(FLNC):c.7327C>T (p.Arg2443Trp) | 2318 | FLNC | Uncertain significance | 1585171621 | RCV000821026|RCV003279112; | N | 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 | 7 | 128496647 | 128496647 | | | 7:g.128496647C>T | - | | | NM_001458.5(FLNC):c.7328G>A (p.Arg2443Gln) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 370293647 | RCV000544906|RCV002491082|RCV002530188; | N | 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:MONDO:0012289,MedGen:C1836050,OMIM:609524 | 7 | 128496648 | 128496648 | | | 7:g.128496648G>A | ClinGen:CA4476237 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7328G>C (p.Arg2443Pro) | 2318 | FLNC | Uncertain significance | 370293647 | RCV001989792; | N | 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 | 7 | 128496648 | 128496648 | | | 128496648 | - | | | NM_001458.5(FLNC):c.7338_7339del (p.Pro2447fs) | 2318 | FLNC | Pathogenic | 1585171628 | RCV000816664; | N | 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 | 7 | 128496653 | 128496654 | | | 7:g.128496653_128496654del | - | | | NM_001458.5(FLNC):c.7339C>A (p.Pro2447Thr) | 2318 | FLNC | Uncertain significance | 1554401770 | RCV000557431; | N | 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 | 7 | 128496659 | 128496659 | | | 7:g.128496659C>A | ClinGen:CA369216857 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7342T>G (p.Ser2448Ala) | 2318 | FLNC | Uncertain significance | 2128940146 | RCV001968391; | N | 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 | 7 | 128496662 | 128496662 | | | 128496662 | - | | | NM_001458.5(FLNC):c.7343C>T (p.Ser2448Leu) | 2318 | FLNC | Likely benign | 778500387 | RCV001037874; | N | 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 | 7 | 128496663 | 128496663 | | | 7:g.128496663C>T | - | | | NM_001458.5(FLNC):c.7344G>A (p.Ser2448=) | 2318 | FLNC | Likely benign | 376251952 | RCV000704603|RCV002386265; | N | 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:CN230736 | 7 | 128496664 | 128496664 | | | 7:g.128496664G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7346G>A (p.Gly2449Glu) | 2318 | FLNC | Uncertain significance | 1322256692 | RCV002045473; | N | 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 | 7 | 128496666 | 128496666 | | | 128496666 | - | | | NM_001458.5(FLNC):c.7347G>A (p.Gly2449=) | 2318 | FLNC | Likely benign | 2128940153 | RCV002130773; | N | 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:614065, Orphanet:63273 | 7 | 128496667 | 128496667 | | | 128496667 | - | | | NM_001458.5(FLNC):c.7349C>A (p.Ala2450Asp) | 2318 | FLNC | Uncertain significance | 1809071622 | RCV001205275; | N | 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 | 7 | 128496669 | 128496669 | | | 7:g.128496669C>A | - | | | NM_001458.5(FLNC):c.7353G>A (p.Val2451=) | 2318 | FLNC | Likely benign | 368607789 | RCV000649085|RCV002386091; | N | 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:CN230736 | 7 | 128496673 | 128496673 | | | NC_000007.13:g.128496673G>A | ClinGen:CA4476243 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7363T>C (p.Tyr2455His) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 371262238 | RCV001886220|RCV002386649; | N | 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 | 7 | 128496683 | 128496683 | | | 128496683 | - | | | NM_001458.5(FLNC):c.7364A>G (p.Tyr2455Cys) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 769298304 | RCV000816348|RCV001545325|RCV002381835; | N | 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:CN517202|MedGen:CN230736 | 7 | 128496684 | 128496684 | | | 7:g.128496684A>G | - | | | NM_001458.5(FLNC):c.7365C>A (p.Tyr2455Ter) | 2318 | FLNC | Pathogenic | 540386120 | RCV000807110; | N | 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 | 7 | 128496685 | 128496685 | | | 7:g.128496685C>A | - | | | NM_001458.5(FLNC):c.7365C>T (p.Tyr2455=) | 2318 | FLNC | Likely benign | 540386120 | RCV002117632|RCV003307962; | N | 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 | 7 | 128496685 | 128496685 | | | 128496685 | - | | | NM_001458.5(FLNC):c.7366G>A (p.Val2456Ile) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 770796119 | RCV000700251|RCV003163246|RCV003235361; | N | 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|MedGen:CN517202 | 7 | 128496686 | 128496686 | | | 7:g.128496686G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7371del (p.Glu2458fs) | 2318 | FLNC | Pathogenic | 1554401780 | RCV000559888|RCV001584364|RCV002384273; | N | 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:CN517202|MedGen:CN230736 | 7 | 128496691 | 128496691 | | | 7:g.128496691_128496691del | ClinGen:CA658657727 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7379A>G (p.Asp2460Gly) | 2318 | FLNC | Uncertain significance | 2128940164 | RCV001902676; | N | 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 | 7 | 128496699 | 128496699 | | | 128496699 | - | | | NM_001458.5(FLNC):c.7380C>T (p.Asp2460=) | 2318 | FLNC | Likely benign | 1203087255 | RCV001412388; | N | 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 | 7 | 128496700 | 128496700 | | | 128496700 | - | | | NM_001458.5(FLNC):c.7382G>A (p.Ser2461Asn) | 2318 | FLNC | Uncertain significance | 550547714 | RCV000267784|RCV000699663|RCV002379116; | N | MedGen: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 | 7 | 128496702 | 128496702 | | | 7:g.128496702G>A | ClinGen:CA4476246 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7384+2T>C | 2318 | FLNC | Likely pathogenic | 112941619 | RCV001977501; | N | 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 | 7 | 128496706 | 128496706 | | | 128496706 | - | | | NM_001458.5(FLNC):c.7384+5G>A | 2318 | FLNC | Likely benign | 766570592 | RCV002093461|RCV003161452; | N | 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:CN230736 | 7 | 128496709 | 128496709 | | | 128496709 | - | | | NM_001458.5(FLNC):c.7384+12C>G | 2318 | FLNC | Likely benign | -1 | RCV002716202; | N | 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 | 7 | 128496716 | 128496716 | | | NC_000007.13:g.128496716C>G | - | | | NM_001458.5(FLNC):c.7384+15C>T | 2318 | FLNC | Likely benign | 775641997 | RCV002101498; | N | 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 | 7 | 128496719 | 128496719 | | | 128496719 | - | | | NM_001458.5(FLNC):c.7384+17C>G | 2318 | FLNC | Likely benign | 2128940177 | RCV002110227; | N | 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 | 7 | 128496721 | 128496721 | | | 128496721 | - | | | NM_001458.5(FLNC):c.7385-15A>C | 2318 | FLNC | Likely benign | -1 | RCV002927216; | N | 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 | 7 | 128496784 | 128496784 | | | NC_000007.13:g.128496784A>C | - | | | NM_001458.5(FLNC):c.7385-10T>C | 2318 | FLNC | Likely benign | 1585171813 | RCV001492315; | N | 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 | 7 | 128496789 | 128496789 | | | 7:g.128496789T>C | - | | | NM_001458.5(FLNC):c.7385-5C>T | 2318 | FLNC | Benign | 367793265 | RCV000533610|RCV000612904|RCV002384214; | N | 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:CN169374|MedGen:CN230736 | 7 | 128496794 | 128496794 | | | NC_000007.13:g.128496794C>T | ClinGen:CA4476264 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7386C>G (p.Asp2462Glu) | 2318 | FLNC | Uncertain significance | 2128940208 | RCV002046478; | N | 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 | 7 | 128496800 | 128496800 | | | 128496800 | - | | | NM_001458.5(FLNC):c.7387A>G (p.Lys2463Glu) | 2318 | FLNC | Uncertain significance | -1 | RCV002629848|RCV003162092; | N | 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 | 7 | 128496801 | 128496801 | | | NC_000007.13:g.128496801A>G | - | | | NM_001458.5(FLNC):c.7389G>A (p.Lys2463=) | 2318 | FLNC | Likely benign | 2128940211 | RCV001428844; | N | 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 | 7 | 128496803 | 128496803 | | | 128496803 | - | | | NM_001458.5(FLNC):c.7390C>G (p.His2464Asp) | 2318 | FLNC | Likely benign | 1269055454 | RCV000819839; | N | 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 | 7 | 128496804 | 128496804 | | | 7:g.128496804C>G | - | | | NM_001458.5(FLNC):c.7393A>G (p.Thr2465Ala) | 2318 | FLNC | Uncertain significance | -1 | RCV003076775; | N | 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 | 7 | 128496807 | 128496807 | | | NC_000007.13:g.128496807A>G | - | | | NM_001458.5(FLNC):c.7399C>T (p.Arg2467Cys) | 2318 | FLNC | Uncertain significance | 1278916117 | RCV000649096|RCV001529127|RCV002386092; | N | 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:CN517202|MedGen:CN230736 | 7 | 128496813 | 128496813 | | | NC_000007.13:g.128496813C>T | ClinGen:CA369217234 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7399C>G (p.Arg2467Gly) | 2318 | FLNC | Uncertain significance | -1 | RCV002716204; | N | 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 | 7 | 128496813 | 128496813 | | | NC_000007.13:g.128496813C>G | - | | | NM_001458.5(FLNC):c.7400G>A (p.Arg2467His) | 2318 | FLNC | Uncertain significance | 775910704 | RCV000649077|RCV003162965; | N | 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:CN230736 | 7 | 128496814 | 128496814 | | | NC_000007.13:g.128496814G>A | ClinGen:CA4476267 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7400G>C (p.Arg2467Pro) | 2318 | FLNC | Uncertain significance | 775910704 | RCV001298174; | N | 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 | 7 | 128496814 | 128496814 | | | 128496814 | - | | | NM_001458.5(FLNC):c.7401C>T (p.Arg2467=) | 2318 | FLNC | Likely benign | -1 | RCV003054076; | N | 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 | 7 | 128496815 | 128496815 | | | | - | | | NM_001458.5(FLNC):c.7411C>A (p.His2471Asn) | 2318 | FLNC | Uncertain significance | 768896980 | RCV001244006; | N | 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 | 7 | 128496825 | 128496825 | | | 7:g.128496825C>A | - | | | NM_001458.5(FLNC):c.7413C>T (p.His2471=) | 2318 | FLNC | Likely benign | 774524427 | RCV000902470|RCV002264069|RCV002382055; | N | 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:CN230736 | 7 | 128496827 | 128496827 | | | 7:g.128496827C>T | - | | | NM_001458.5(FLNC):c.7414G>A (p.Glu2472Lys) | 2318 | FLNC | Uncertain significance | 948675422 | RCV001211298|RCV002272408|RCV003163607; | N | 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:0014883,MedGen:C4310749,OMIM:617047 | 7 | 128496828 | 128496828 | | | 7:g.128496828G>A | - | | | NM_001458.5(FLNC):c.7414G>T (p.Glu2472Ter) | 2318 | FLNC | Pathogenic | 948675422 | RCV001984735; | N | 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:614065, Orphanet:63273 | 7 | 128496828 | 128496828 | | | 128496828 | - | | | NM_001458.5(FLNC):c.7416G>A (p.Glu2472=) | 2318 | FLNC | Likely benign | 1241565627 | RCV002108178; | N | 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 | 7 | 128496830 | 128496830 | | | 128496830 | - | | | NM_001458.5(FLNC):c.7420G>C (p.Gly2474Arg) | 2318 | FLNC | Uncertain significance | -1 | RCV003025282; | N | 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 | 7 | 128496834 | 128496834 | | | NC_000007.13:g.128496834G>C | - | | | NM_001458.5(FLNC):c.7422C>T (p.Gly2474=) | 2318 | FLNC | Likely benign | 755019331 | RCV002197261|RCV002382298; | N | 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:CN230736 | 7 | 128496836 | 128496836 | | | 128496836 | - | | | NM_001458.5(FLNC):c.7423G>A (p.Val2475Ile) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 191224002 | RCV000824378|RCV002381885; | N | 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:CN230736 | 7 | 128496837 | 128496837 | | | 7:g.128496837G>A | - | | | NM_001458.5(FLNC):c.7430C>T (p.Ser2477Phe) | 2318 | FLNC | Uncertain significance | 2128940229 | RCV001993623; | N | 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 | 7 | 128496844 | 128496844 | | | 128496844 | - | | | NM_001458.5(FLNC):c.7430C>A (p.Ser2477Tyr) | 2318 | FLNC | Uncertain significance | -1 | RCV003008333; | N | 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 | 7 | 128496844 | 128496844 | | | NC_000007.13:g.128496844C>A | - | | | NM_001458.5(FLNC):c.7432A>G (p.Ile2478Val) | 2318 | FLNC | Uncertain significance | 1430261045 | RCV000545111; | N | 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 | 7 | 128496846 | 128496846 | | | NC_000007.13:g.128496846A>G | ClinGen:CA369217343 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7434C>T (p.Ile2478=) | 2318 | FLNC | Likely benign | 773767211 | RCV000963588|RCV002505453; | N | 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:C1836050,OMIM:609524 | 7 | 128496848 | 128496848 | | | 7:g.128496848C>T | - | | | NM_001458.5(FLNC):c.7437T>C (p.Asp2479=) | 2318 | FLNC | Likely benign | 1390623169 | RCV001422856; | N | 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 | 7 | 128496851 | 128496851 | | | 128496851 | - | | | NM_001458.5(FLNC):c.7439T>C (p.Val2480Ala) | 2318 | FLNC | Uncertain significance | 1376119645 | RCV001324847|RCV002384432; | N | 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 | 7 | 128496853 | 128496853 | | | 128496853 | - | | | NM_001458.5(FLNC):c.7440C>T (p.Val2480=) | 2318 | FLNC | Likely benign | 1585171905 | RCV001406539|RCV002382208; | N | 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 | 7 | 128496854 | 128496854 | | | 7:g.128496854C>T | - | | | NM_001458.5(FLNC):c.7443G>A (p.Lys2481=) | 2318 | FLNC | Likely benign | 1457672866 | RCV000983746|RCV002382217; | N | 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 | 7 | 128496857 | 128496857 | | | 7:g.128496857G>A | - | | | NM_001458.5(FLNC):c.7446C>T (p.Phe2482=) | 2318 | FLNC | Likely benign | -1 | RCV002609911; | N | 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 | 7 | 128496860 | 128496860 | | | | - | | | NM_001458.5(FLNC):c.7449C>T (p.Asn2483=) | 2318 | FLNC | Likely benign | 761006044 | RCV000557651|RCV002384215|RCV002476185; | N | 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:CN230736|MONDO:MONDO:0012289,MedGen:C183 | 7 | 128496863 | 128496863 | | | 7:g.128496863C>T | ClinGen:CA4476274 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7450G>A (p.Gly2484Ser) | 2318 | FLNC | Uncertain significance | 778922568 | RCV000533813|RCV002384216|RCV002491083|RCV003144359; | N | 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:CN230736|MONDO:MONDO:0014883,MedGen:C431 | 7 | 128496864 | 128496864 | | | 7:g.128496864G>A | ClinGen:CA4476275 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7455C>G (p.Ala2485=) | 2318 | FLNC | Uncertain significance | 1554401819 | RCV000550977; | N | 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 | 7 | 128496869 | 128496869 | | | 7:g.128496869C>G | ClinGen:CA457590387 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7458C>T (p.His2486=) | 2318 | FLNC | Likely benign | 752390410 | RCV001719004|RCV002065403|RCV003352940; | N | MedGen: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:CN230736 | 7 | 128496872 | 128496872 | | | 7:g.128496872C>T | ClinGen:CA4476276 | CN169374 not specified; | | NM_001458.5(FLNC):c.7459A>G (p.Ile2487Val) | 2318 | FLNC | Uncertain significance | -1 | RCV002385139|RCV003099643; | N | MedGen: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:CN239310 | 7 | 128496873 | 128496873 | | | 128496873 | - | | | NM_001458.5(FLNC):c.7462C>T (p.Pro2488Ser) | 2318 | FLNC | Uncertain significance | 1563005191 | RCV000690415; | N | 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 | 7 | 128496876 | 128496876 | | | 7:g.128496876C>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7466G>A (p.Gly2489Glu) | 2318 | FLNC | Uncertain significance | 2128940243 | RCV002021434; | N | 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 | 7 | 128496880 | 128496880 | | | 128496880 | - | | | NM_001458.5(FLNC):c.7483C>T (p.Arg2495Cys) | 2318 | FLNC | Uncertain significance | 374925943 | RCV001794830|RCV001885218; | N | 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:63273 | 7 | 128496897 | 128496897 | | | 128496897 | - | | | NM_001458.5(FLNC):c.7484G>A (p.Arg2495His) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 757219498 | RCV000649136|RCV002388126; | N | 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 | 7 | 128496898 | 128496898 | | | 7:g.128496898G>A | ClinGen:CA4476280 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7485C>T (p.Arg2495=) | 2318 | FLNC | Likely benign | 781056503 | RCV000874606|RCV001549321; | N | 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 | 7 | 128496899 | 128496899 | | | 7:g.128496899C>T | - | | | NM_001458.5(FLNC):c.7486G>T (p.Val2496Phe) | 2318 | FLNC | Uncertain significance | 200295337 | RCV000785096|RCV002388412|RCV002535719; | N | MedGen: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:171445 | 7 | 128496900 | 128496900 | | | 7:g.128496900G>T | - | | | NM_001458.5(FLNC):c.7486G>A (p.Val2496Ile) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 200295337 | RCV001898821|RCV002388804; | N | 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:614065, Orphanet:63273|MedGen:CN230736 | 7 | 128496900 | 128496900 | | | 128496900 | - | | | NM_001458.5(FLNC):c.7487T>C (p.Val2496Ala) | 2318 | FLNC | Uncertain significance | 1284210024 | RCV001044988|RCV003314664; | N | 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:CN517202 | 7 | 128496901 | 128496901 | | | 7:g.128496901T>C | - | | | NM_001458.5(FLNC):c.7491G>A (p.Gly2497=) | 2318 | FLNC | Likely benign | 367843476 | RCV001391907|RCV002395877; | N | 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:CN230736 | 7 | 128496905 | 128496905 | | | 128496905 | - | | | NM_001458.5(FLNC):c.7494G>A (p.Glu2498=) | 2318 | FLNC | Likely benign | 749544147 | RCV001484386|RCV002396154; | N | 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 | 7 | 128496908 | 128496908 | | | 128496908 | - | | | NM_001458.5(FLNC):c.7496_7497insTGCT (p.Gln2499fs) | 2318 | FLNC | Pathogenic | 1554401830 | RCV000649061; | N | 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 | 7 | 128496910 | 128496911 | | | NC_000007.13:g.128496910_128496911insTGCT | ClinGen:CA658797006 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7499G>A (p.Ser2500Asn) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 371244800 | RCV000696812|RCV001585638|RCV002388272; | N | 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:CN230736 | 7 | 128496913 | 128496913 | | | NC_000007.13:g.128496913G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7503G>A (p.Gln2501=) | 2318 | FLNC | Likely benign | 1270240455 | RCV002129519|RCV002391256; | N | 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 | 7 | 128496917 | 128496917 | | | 128496917 | - | | | NM_001458.5(FLNC):c.7504G>A (p.Ala2502Thr) | 2318 | FLNC | Uncertain significance | 2128940257 | RCV001940569; | N | MONDO:MONDO: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 | 7 | 128496918 | 128496918 | | | 128496918 | - | | | NM_001458.5(FLNC):c.7507G>A (p.Gly2503Arg) | 2318 | FLNC | Uncertain significance | 2128940258 | RCV001363498; | N | 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 | 7 | 128496921 | 128496921 | | | 128496921 | - | | | NM_001458.5(FLNC):c.7510del (p.Asp2504fs) | 2318 | FLNC | Pathogenic | 2128940259 | RCV001933828; | N | 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 | 7 | 128496921 | 128496921 | | | 128496920 | - | | | NM_001458.5(FLNC):c.7509G>A (p.Gly2503=) | 2318 | FLNC | Likely benign | -1 | RCV003009461; | N | 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 | 7 | 128496923 | 128496923 | | | | - | | | NM_001458.5(FLNC):c.7516G>A (p.Gly2506Ser) | 2318 | FLNC | Uncertain significance | 1809085479 | RCV001204722; | N | 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 | 7 | 128496930 | 128496930 | | | 7:g.128496930G>A | - | | | NM_001458.5(FLNC):c.7516G>C (p.Gly2506Arg) | 2318 | FLNC | Uncertain significance | 1809085479 | RCV001866741; | N | MONDO:MONDO: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 | 7 | 128496930 | 128496930 | | | 128496930 | - | | | NM_001458.5(FLNC):c.7523T>G (p.Val2508Gly) | 2318 | FLNC | Uncertain significance | 2128940265 | RCV001974442; | N | 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 | 7 | 128496937 | 128496937 | | | 128496937 | - | | | NM_001458.5(FLNC):c.7526_7527delinsAG (p.Ser2509Ter) | 2318 | FLNC | Pathogenic | 1809085817 | RCV001214644; | N | 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 | 7 | 128496940 | 128496941 | | | NC_000007.13:g.128496940_128496941delinsAG | - | | | NM_001458.5(FLNC):c.7529C>T (p.Ala2510Val) | 2318 | FLNC | Uncertain significance | 1809086035 | RCV001057717; | N | 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 | 7 | 128496943 | 128496943 | | | 7:g.128496943C>T | - | | | NM_001458.5(FLNC):c.7533C>T (p.Tyr2511=) | 2318 | FLNC | Benign/Likely benign | 376806697 | RCV000558972|RCV001697308|RCV002395440; | N | 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:CN230736 | 7 | 128496947 | 128496947 | | | 7:g.128496947C>T | ClinGen:CA4476287 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7536_7548del (p.Pro2513fs) | 2318 | FLNC | Pathogenic | 1554401837 | RCV000649171; | N | 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 | 7 | 128496949 | 128496961 | | | NC_000007.13:g.128496950_128496962del | ClinGen:CA658797007 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7539T>C (p.Pro2513=) | 2318 | FLNC | Likely benign | -1 | RCV002636510; | N | 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 | 7 | 128496953 | 128496953 | | | | - | | | NM_001458.5(FLNC):c.7545C>T (p.Leu2515=) | 2318 | FLNC | Benign | 369791058 | RCV000535162|RCV000608792|RCV001702514|RCV002395441; | N | 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:CN169374|MedGen:C3661900|MedGen:CN230736 | 7 | 128496959 | 128496959 | | | 7:g.128496959C>T | ClinGen:CA4476288 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7546G>A (p.Glu2516Lys) | 2318 | FLNC | Uncertain significance | 373691962 | RCV000686476|RCV002388199|RCV003144485; | N | 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:CN230736|MedGen:CN517202 | 7 | 128496960 | 128496960 | | | NC_000007.13:g.128496960G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7551A>G (p.Gly2517=) | 2318 | FLNC | Likely benign | 1283157933 | RCV001472035; | N | 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 | 7 | 128496965 | 128496965 | | | 7:g.128496965A>G | - | | | NM_001458.5(FLNC):c.7554C>T (p.Gly2518=) | 2318 | FLNC | Uncertain significance | 761216494 | RCV002025325|RCV002272554; | N | 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 | 7 | 128496968 | 128496968 | | | 128496968 | - | | | NM_001458.5(FLNC):c.7556C>A (p.Thr2519Asn) | 2318 | FLNC | Uncertain significance | -1 | RCV002886121; | N | 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 | 7 | 128496970 | 128496970 | | | NC_000007.13:g.128496970C>A | - | | | NM_001458.5(FLNC):c.7559C>A (p.Thr2520Asn) | 2318 | FLNC | Likely pathogenic | 1809086992 | RCV001325407; | N | 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 | 7 | 128496973 | 128496973 | | | 128496973 | - | | | NM_001458.5(FLNC):c.7560C>T (p.Thr2520=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 527921534 | RCV000547791|RCV000786412|RCV003159900; | N | 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:C3661900|MedGen:CN230736 | 7 | 128496974 | 128496974 | | | 7:g.128496974C>T | ClinGen:CA4476292 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7561G>A (p.Gly2521Ser) | 2318 | FLNC | Uncertain significance | 746969946 | RCV001352043|RCV002395782; | N | 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:CN230736 | 7 | 128496975 | 128496975 | | | 128496975 | - | | | NM_001458.5(FLNC):c.7561G>C (p.Gly2521Arg) | 2318 | FLNC | Uncertain significance | -1 | RCV003011774|RCV003274137; | N | 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 | 7 | 128496975 | 128496975 | | | NC_000007.13:g.128496975G>C | - | | | NM_001458.5(FLNC):c.7561+7G>T | 2318 | FLNC | Likely benign | 1040480789 | RCV002196351; | N | 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 | 7 | 128496982 | 128496982 | | | 128496982 | - | | | NM_001458.5(FLNC):c.7561+11G>A | 2318 | FLNC | Likely benign | -1 | RCV003024977; | N | 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 | 7 | 128496986 | 128496986 | | | NC_000007.13:g.128496986G>A | - | | | NM_001458.5(FLNC):c.7561+14G>A | 2318 | FLNC | Likely benign | -1 | RCV002582186; | N | 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 | 7 | 128496989 | 128496989 | | | NC_000007.13:g.128496989G>A | - | | | NM_001458.5(FLNC):c.7562-17C>T | 2318 | FLNC | Likely benign | 571573294 | RCV002203627; | N | 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 | 7 | 128497155 | 128497155 | | | 128497155 | - | | | NM_001458.5(FLNC):c.7562-11C>G | 2318 | FLNC | Likely benign | -1 | RCV002685953; | N | 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 | 7 | 128497161 | 128497161 | | | NC_000007.13:g.128497161C>G | - | | | NM_001458.5(FLNC):c.7562-6C>T | 2318 | FLNC | Likely benign | 1450761866 | RCV002168784; | N | 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 | 7 | 128497166 | 128497166 | | | 128497166 | - | | | NM_001458.5(FLNC):c.7562-5C>T | 2318 | FLNC | Benign | 773923745 | RCV000943830|RCV001644863; | N | 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 | 7 | 128497167 | 128497167 | | | 7:g.128497167C>T | - | | | NM_001458.5(FLNC):c.7562-2_7581dup | 2318 | FLNC | Uncertain significance | 1809097279 | RCV001241455; | N | 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 | 7 | 128497168 | 128497169 | | | 7:g.128497168_128497169insCAGGTGTGTCATCAGAGTTCAT | - | | | NM_001458.5(FLNC):c.7562-4C>T | 2318 | FLNC | Likely benign | 1809097044 | RCV002101378; | N | 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 | 7 | 128497168 | 128497168 | | | 128497168 | - | | | NM_001458.5(FLNC):c.7562-3C>T | 2318 | FLNC | Uncertain significance | 1358745378 | RCV002043457; | N | 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 | 7 | 128497169 | 128497169 | | | 128497169 | - | | | NM_001458.5(FLNC):c.7562-3C>G | 2318 | FLNC | Uncertain significance | -1 | RCV002838680; | N | 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 | 7 | 128497169 | 128497169 | | | NC_000007.13:g.128497169C>G | - | | | NM_001458.5(FLNC):c.7562-1_7612dup | 2318 | FLNC | Pathogenic | -1 | RCV002899966; | N | 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 | 7 | 128497170 | 128497171 | | | NC_000007.13:g.128497171_128497222dup | - | | | NM_001458.5(FLNC):c.7562-1G>A | 2318 | FLNC | Likely pathogenic | 2128940335 | RCV001379084; | N | 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 | 7 | 128497171 | 128497171 | | | 128497171 | - | | | NM_001458.5(FLNC):c.7564G>A (p.Val2522Met) | 2318 | FLNC | Uncertain significance | 780917403 | RCV001058406|RCV002393281; | N | 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 | 7 | 128497174 | 128497174 | | | 7:g.128497174G>A | - | | | NM_001458.5(FLNC):c.7565T>C (p.Val2522Ala) | 2318 | FLNC | Uncertain significance | -1 | RCV002949490; | N | 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 | 7 | 128497175 | 128497175 | | | NC_000007.13:g.128497175T>C | - | | | NM_001458.5(FLNC):c.7571del (p.Ser2523_Ser2524insTer) | 2318 | FLNC | Pathogenic | 1809097778 | RCV001205002; | N | 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 | 7 | 128497181 | 128497181 | | | 7:g.128497181_128497181del | - | | | NM_001458.5(FLNC):c.7575G>A (p.Glu2525=) | 2318 | FLNC | Likely benign | 2128940338 | RCV001426082; | N | 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 | 7 | 128497185 | 128497185 | | | 128497185 | - | | | NM_001458.5(FLNC):c.7576T>A (p.Phe2526Ile) | 2318 | FLNC | Uncertain significance | 373973635 | RCV001962495|RCV002223330|RCV002388886; | N | 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:614065, Orphanet:63273|MedGen:C3661900|MedGen:CN230736 | 7 | 128497186 | 128497186 | | | 128497186 | - | | | NM_001458.5(FLNC):c.7580T>C (p.Ile2527Thr) | 2318 | FLNC | Uncertain significance | 749891076 | RCV000694476|RCV001766495|RCV003163180; | N | 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:CN517202|MeSH:D030342,MedGen:C0950123 | 7 | 128497190 | 128497190 | | | NC_000007.13:g.128497190T>C | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7580T>G (p.Ile2527Ser) | 2318 | FLNC | Uncertain significance | 749891076 | RCV001935289; | N | 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 | 7 | 128497190 | 128497190 | | | 128497190 | - | | | NM_001458.5(FLNC):c.7581C>T (p.Ile2527=) | 2318 | FLNC | Likely benign | 988685183 | RCV001468004|RCV002396107; | N | 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 | 7 | 128497191 | 128497191 | | | 128497191 | - | | | NM_001458.5(FLNC):c.7581del (p.Ile2527fs) | 2318 | FLNC | Likely pathogenic | -1 | RCV003333217|RCV003333215|RCV003333216|RCV003164444; | N | 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:0016333,MedGen:C0340427,OMIM:PS115200, Orphanet:2176 | 7 | 128497191 | 128497191 | | | | - | | | NM_001458.5(FLNC):c.7582G>A (p.Val2528Met) | 2318 | FLNC | Uncertain significance | 1317229834 | RCV001220828; | N | 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 | 7 | 128497192 | 128497192 | | | 7:g.128497192G>A | - | | | NM_001458.5(FLNC):c.7584G>A (p.Val2528=) | 2318 | FLNC | Likely benign | 1809098607 | RCV001431547; | N | 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 | 7 | 128497194 | 128497194 | | | 128497194 | - | | | NM_001458.5(FLNC):c.7587C>T (p.Asn2529=) | 2318 | FLNC | Likely benign | 2128940345 | RCV002179950; | N | 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 | 7 | 128497197 | 128497197 | | | 128497197 | - | | | NM_001458.5(FLNC):c.7588A>G (p.Thr2530Ala) | 2318 | FLNC | Uncertain significance | 760694025 | RCV001998733; | N | 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 | 7 | 128497198 | 128497198 | | | 128497198 | - | | | NM_001458.5(FLNC):c.7589C>A (p.Thr2530Asn) | 2318 | FLNC | Uncertain significance | 766492460 | RCV001371537; | N | 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 | 7 | 128497199 | 128497199 | | | 128497199 | - | | | NM_001458.5(FLNC):c.7590C>T (p.Thr2530=) | 2318 | FLNC | Likely benign | -1 | RCV002394160|RCV003099690; | N | MedGen: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:CN239310 | 7 | 128497200 | 128497200 | | | | - | | | NM_001458.5(FLNC):c.7593G>A (p.Leu2531=) | 2318 | FLNC | Likely benign | -1 | RCV002857035; | N | 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 | 7 | 128497203 | 128497203 | | | | - | | | NM_001458.5(FLNC):c.7596T>C (p.Asn2532=) | 2318 | FLNC | Likely benign | 377522797 | RCV001411725|RCV002395932; | N | MONDO:MONDO: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 | 7 | 128497206 | 128497206 | | | 128497206 | - | | | NM_001458.5(FLNC):c.7596T>A (p.Asn2532Lys) | 2318 | FLNC | Uncertain significance | 377522797 | RCV001823809|RCV001885365|RCV002388686; | N | MedGen: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:CN230736 | 7 | 128497206 | 128497206 | | | 128497206 | - | | | NM_001458.5(FLNC):c.7597G>C (p.Ala2533Pro) | 2318 | FLNC | Uncertain significance | -1 | RCV002296336|RCV002391407; | N | MONDO:MONDO: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 | 7 | 128497207 | 128497207 | | | 128497207 | - | | | NM_001458.5(FLNC):c.7599C>T (p.Ala2533=) | 2318 | FLNC | Likely benign | 1184080931 | RCV001501951; | N | 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 | 7 | 128497209 | 128497209 | | | 128497209 | - | | | NM_001458.5(FLNC):c.7600G>T (p.Gly2534Cys) | 2318 | FLNC | Uncertain significance | 372504725 | RCV001930204|RCV003146282; | N | 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 | 7 | 128497210 | 128497210 | | | 128497210 | - | | | NM_001458.5(FLNC):c.7601G>T (p.Gly2534Val) | 2318 | FLNC | Uncertain significance | 778822005 | RCV001905573; | N | 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 | 7 | 128497211 | 128497211 | | | 128497211 | - | | | NM_001458.5(FLNC):c.7604C>T (p.Ser2535Leu) | 2318 | FLNC | Uncertain significance | 201895675 | RCV000697471|RCV003432742; | N | 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 | 7 | 128497214 | 128497214 | | | 7:g.128497214C>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7605G>A (p.Ser2535=) | 2318 | FLNC | Likely benign | 777724201 | RCV000699140|RCV000998925|RCV002388294; | N | 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:CN517202|MedGen:CN230736 | 7 | 128497215 | 128497215 | | | 7:g.128497215G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7606G>A (p.Gly2536Arg) | 2318 | FLNC | Uncertain significance | 1809100312 | RCV001044944; | N | 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 | 7 | 128497216 | 128497216 | | | 7:g.128497216G>A | - | | | NM_001458.5(FLNC):c.7606G>C (p.Gly2536Arg) | 2318 | FLNC | Uncertain significance | 1809100312 | RCV001361496; | N | 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 | 7 | 128497216 | 128497216 | | | 128497216 | - | | | NM_001458.5(FLNC):c.7609G>A (p.Ala2537Thr) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 201486752 | RCV001671316|RCV001724383|RCV002539665; | N | MedGen: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:171445 | 7 | 128497219 | 128497219 | | | 128497219 | - | | | NM_001458.5(FLNC):c.7610C>A (p.Ala2537Asp) | 2318 | FLNC | Uncertain significance | 1394723230 | RCV000528480|RCV003126816; | N | 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:CN517202 | 7 | 128497220 | 128497220 | | | 7:g.128497220C>A | ClinGen:CA369219351 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7614G>T (p.Leu2538Phe) | 2318 | FLNC | Benign/Likely benign | 180834558 | RCV000514907|RCV001082529|RCV002395233|RCV002490874; | N | MedGen: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:001 | 7 | 128497224 | 128497224 | | | 7:g.128497224G>T | ClinGen:CA4476327 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7618G>C (p.Val2540Leu) | 2318 | FLNC | Uncertain significance | 746349463 | RCV000649163|RCV002388128|RCV003144443; | N | 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:CN230736|MedGen:C3661900 | 7 | 128497228 | 128497228 | | | 7:g.128497228G>C | ClinGen:CA4476328 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7626T>C (p.Ile2542=) | 2318 | FLNC | Likely benign | 1554401890 | RCV001462193; | N | 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 | 7 | 128497236 | 128497236 | | | NC_000007.13:g.128497236T>C | ClinGen:CA457850288 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7626T>G (p.Ile2542Met) | 2318 | FLNC | Uncertain significance | 1554401890 | RCV000705448; | N | 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 | 7 | 128497236 | 128497236 | | | 7:g.128497236T>G | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7629T>C (p.Asp2543=) | 2318 | FLNC | Likely benign | 1451167404 | RCV001491003; | N | MONDO:MONDO: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 | 7 | 128497239 | 128497239 | | | 7:g.128497239T>C | - | | | NM_001458.5(FLNC):c.7630G>A (p.Gly2544Ser) | 2318 | FLNC | Uncertain significance | 2128940366 | RCV002388945|RCV001997779; | N | MedGen: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:75249 | 7 | 128497240 | 128497240 | | | 128497240 | - | | | NM_001458.5(FLNC):c.7632C>T (p.Gly2544=) | 2318 | FLNC | Likely benign | 1297781614 | RCV000548003; | N | 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 | 7 | 128497242 | 128497242 | | | NC_000007.13:g.128497242C>T | ClinGen:CA457850313 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7635C>T (p.Pro2545=) | 2318 | FLNC | Likely benign | 2128940367 | RCV001457352; | N | 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 | 7 | 128497245 | 128497245 | | | 128497245 | - | | | NM_001458.5(FLNC):c.7636T>A (p.Ser2546Thr) | 2318 | FLNC | Uncertain significance | 200673841 | RCV000699971|RCV002388304; | N | 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:CN230736 | 7 | 128497246 | 128497246 | | | 7:g.128497246T>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7644G>A (p.Val2548=) | 2318 | FLNC | Likely benign | 1249860446 | RCV002136354; | N | 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 | 7 | 128497254 | 128497254 | | | 128497254 | - | | | NM_001458.5(FLNC):c.7647G>T (p.Gln2549His) | 2318 | FLNC | Uncertain significance | 771689118 | RCV001051989; | N | 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 | 7 | 128497257 | 128497257 | | | 7:g.128497257G>T | - | | | NM_001458.5(FLNC):c.7648C>T (p.Leu2550=) | 2318 | FLNC | Likely benign | 1585172378 | RCV001412112; | N | 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 | 7 | 128497258 | 128497258 | | | 7:g.128497258C>T | - | | | NM_001458.5(FLNC):c.7651G>C (p.Asp2551His) | 2318 | FLNC | Uncertain significance | 1187923021 | RCV000649172|RCV002388129; | N | 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 | 7 | 128497261 | 128497261 | | | NC_000007.13:g.128497261G>C | ClinGen:CA369219517 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7652A>G (p.Asp2551Gly) | 2318 | FLNC | Uncertain significance | 1040102987 | RCV001302586|RCV001724290; | N | 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:CN517202 | 7 | 128497262 | 128497262 | | | 128497262 | - | | | NM_001458.5(FLNC):c.7653C>T (p.Asp2551=) | 2318 | FLNC | Likely benign | 2128940372 | RCV001437786|RCV002396006; | N | 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:CN230736 | 7 | 128497263 | 128497263 | | | 128497263 | - | | | NM_001458.5(FLNC):c.7656T>C (p.Cys2552=) | 2318 | FLNC | Likely benign | -1 | RCV003088071; | N | 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 | 7 | 128497266 | 128497266 | | | | - | | | NM_001458.5(FLNC):c.7657C>T (p.Arg2553Trp) | 2318 | FLNC | Uncertain significance | 199519281 | RCV000699970|RCV001585646|RCV002485715|RCV002388303; | N | 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|MONDO:MONDO:0012289,MedGen:C183 | 7 | 128497267 | 128497267 | | | 7:g.128497267C>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7658G>A (p.Arg2553Gln) | 2318 | FLNC | Uncertain significance | 375213102 | RCV000693353|RCV002388246; | N | 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:CN230736 | 7 | 128497268 | 128497268 | | | 7:g.128497268G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7660del (p.Glu2554fs) | 2318 | FLNC | Pathogenic | 1809103569 | RCV001069589; | N | 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 | 7 | 128497268 | 128497268 | | | 7:g.128497268_128497268del | - | | | NM_001458.5(FLNC):c.7659G>C (p.Arg2553=) | 2318 | FLNC | Likely benign | 1490653520 | RCV000649232; | N | 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 | 7 | 128497269 | 128497269 | | | 7:g.128497269G>C | ClinGen:CA457850401 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7664G>C (p.Cys2555Ser) | 2318 | FLNC | Uncertain significance | 1585172407 | RCV000797842; | N | 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 | 7 | 128497274 | 128497274 | | | 7:g.128497274G>C | - | | | NM_001458.5(FLNC):c.7666C>T (p.Pro2556Ser) | 2318 | FLNC | Uncertain significance | 765967888 | RCV001206150; | N | 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 | 7 | 128497276 | 128497276 | | | 7:g.128497276C>T | - | | | NM_001458.5(FLNC):c.7666C>G (p.Pro2556Ala) | 2318 | FLNC | Uncertain significance | 765967888 | RCV001906509|RCV002305633; | N | 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:C3661900 | 7 | 128497276 | 128497276 | | | 128497276 | - | | | NM_001458.5(FLNC):c.7667C>T (p.Pro2556Leu) | 2318 | FLNC | Uncertain significance | 1809104361 | RCV001886001; | N | 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:614065, Orphanet:63273 | 7 | 128497277 | 128497277 | | | 128497277 | - | | | NM_001458.5(FLNC):c.7677T>C (p.His2559=) | 2318 | FLNC | Likely benign | 200760961 | RCV001433284; | N | 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 | 7 | 128497287 | 128497287 | | | 7:g.128497287T>C | - | | | NM_001458.5(FLNC):c.7679T>C (p.Val2560Ala) | 2318 | FLNC | Uncertain significance | 931678640 | RCV000803002; | N | 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 | 7 | 128497289 | 128497289 | | | 7:g.128497289T>C | - | | | NM_001458.5(FLNC):c.7689T>C (p.Tyr2563=) | 2318 | FLNC | Likely benign | -1 | RCV003114752; | N | 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 | 7 | 128497299 | 128497299 | | | | - | | | NM_001458.5(FLNC):c.7691C>T (p.Thr2564Ile) | 2318 | FLNC | Uncertain significance | 1405868407 | RCV001223954; | N | 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 | 7 | 128497301 | 128497301 | | | 7:g.128497301C>T | - | | | NM_001458.5(FLNC):c.7693C>T (p.Pro2565Ser) | 2318 | FLNC | Uncertain significance | 1554401906 | RCV000649064; | N | 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 | 7 | 128497303 | 128497303 | | | NC_000007.13:g.128497303C>T | ClinGen:CA369219703 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7703C>T (p.Pro2568Leu) | 2318 | FLNC | Uncertain significance | -1 | RCV002304933; | N | 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 | 7 | 128497313 | 128497313 | | | 128497313 | - | | | NM_001458.5(FLNC):c.7709A>G (p.Asn2570Ser) | 2318 | FLNC | Uncertain significance | 1381739439 | RCV001342900|RCV002404801; | N | 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:CN230736 | 7 | 128497319 | 128497319 | | | 128497319 | - | | | NM_001458.5(FLNC):c.7709A>C (p.Asn2570Thr) | 2318 | FLNC | Uncertain significance | -1 | RCV002991650|RCV003367942; | N | 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:CN230736 | 7 | 128497319 | 128497319 | | | NC_000007.13:g.128497319A>C | - | | | NM_001458.5(FLNC):c.7710C>T (p.Asn2570=) | 2318 | FLNC | Likely benign | 370733196 | RCV001454739|RCV002405069; | N | 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:CN230736 | 7 | 128497320 | 128497320 | | | 128497320 | - | | | NM_001458.5(FLNC):c.7722C>T (p.Ala2574=) | 2318 | FLNC | Likely benign | 1360192955 | RCV002171042; | N | 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 | 7 | 128497332 | 128497332 | | | 128497332 | - | | | NM_001458.5(FLNC):c.7727A>C (p.Lys2576Thr) | 2318 | FLNC | Uncertain significance | 1554401912 | RCV000649070; | N | 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 | 7 | 128497337 | 128497337 | | | 7:g.128497337A>C | ClinGen:CA369219851 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7731C>T (p.Tyr2577=) | 2318 | FLNC | Likely benign | 374072349 | RCV001474651|RCV002405118; | N | 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:CN230736 | 7 | 128497341 | 128497341 | | | 128497341 | - | | | NM_001458.5(FLNC):c.7732G>A (p.Gly2578Ser) | 2318 | FLNC | Uncertain significance | 566747845 | RCV000528662|RCV003144360|RCV002404523; | N | 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:C3661900|MedGen:CN230736 | 7 | 128497342 | 128497342 | | | NC_000007.13:g.128497342G>A | ClinGen:CA4476342 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7750_7769dup (p.Lys2591fs) | 2318 | FLNC | Pathogenic/Likely pathogenic | 2128940399 | RCV001387372|RCV003155406; | N | 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:0016333,MedGen:C0340427,OMIM:PS1152 | 7 | 128497358 | 128497359 | | | 128497358 | - | | | NM_001458.5(FLNC):c.7749C>T (p.Ile2583=) | 2318 | FLNC | Likely benign | 781217114 | RCV001495754|RCV002405169; | N | 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:CN230736 | 7 | 128497359 | 128497359 | | | 128497359 | - | | | NM_001458.5(FLNC):c.7752G>A (p.Val2584=) | 2318 | FLNC | Likely benign | 1809108536 | RCV002133157; | N | 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:614065, Orphanet:63273 | 7 | 128497362 | 128497362 | | | 128497362 | - | | | NM_001458.5(FLNC):c.7755C>T (p.Gly2585=) | 2318 | FLNC | Likely benign | 746404471 | RCV000945699|RCV001593137|RCV002409251; | N | 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:CN230736 | 7 | 128497365 | 128497365 | | | 7:g.128497365C>T | - | | | NM_001458.5(FLNC):c.7757_7758delinsA (p.Ser2586fs) | 2318 | FLNC | Pathogenic | 1809109008 | RCV001243023; | N | 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 | 7 | 128497367 | 128497368 | | | 7:g.128497368_128497368del | - | | | NM_001458.5(FLNC):c.7765A>G (p.Lys2589Glu) | 2318 | FLNC | Uncertain significance | 1809109347 | RCV001220403; | N | 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 | 7 | 128497375 | 128497375 | | | 7:g.128497375A>G | - | | | NM_001458.5(FLNC):c.7768G>T (p.Ala2590Ser) | 2318 | FLNC | Uncertain significance | 1354641654 | RCV001995665; | N | 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 | 7 | 128497378 | 128497378 | | | 128497378 | - | | | NM_001458.5(FLNC):c.7770C>A (p.Ala2590=) | 2318 | FLNC | Likely benign | 2128940407 | RCV002077672; | N | MONDO:MONDO: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 | 7 | 128497380 | 128497380 | | | 128497380 | - | | | NM_001458.5(FLNC):c.7772A>G (p.Lys2591Arg) | 2318 | FLNC | Uncertain significance | -1 | RCV002409775|RCV003099741|RCV003314731; | N | 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:CN517202 | 7 | 128497382 | 128497382 | | | 128497382 | - | | | NM_001458.5(FLNC):c.7774G>T (p.Val2592Phe) | 2318 | FLNC | Uncertain significance | 1268909811 | RCV002025333; | N | 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 | 7 | 128497384 | 128497384 | | | 128497384 | - | | | NM_001458.5(FLNC):c.7776C>T (p.Val2592=) | 2318 | FLNC | Likely benign | 2128940410 | RCV001496075; | N | 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 | 7 | 128497386 | 128497386 | | | 128497386 | - | | | NM_001458.5(FLNC):c.7780+1G>A | 2318 | FLNC | Likely pathogenic | 1563005607 | RCV000706292; | N | 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 | 7 | 128497391 | 128497391 | | | NC_000007.13:g.128497391G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7780+1G>C | 2318 | FLNC | Likely pathogenic | 1563005607 | RCV002001188; | N | 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 | 7 | 128497391 | 128497391 | | | 128497391 | - | | | NM_001458.5(FLNC):c.7780+1G>T | 2318 | FLNC | Uncertain significance | -1 | RCV003333587|RCV003333585|RCV003333586; | N | 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 | 7 | 128497391 | 128497391 | | | | - | | | NM_001458.5(FLNC):c.7780+2T>C | 2318 | FLNC | Likely pathogenic | 1809110247 | RCV001212384; | N | 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 | 7 | 128497392 | 128497392 | | | 7:g.128497392T>C | - | | | NM_001458.5(FLNC):c.7780+2T>A | 2318 | FLNC | Likely pathogenic | -1 | RCV002857009; | N | 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 | 7 | 128497392 | 128497392 | | | NC_000007.13:g.128497392T>A | - | | | NM_001458.5(FLNC):c.7780+3G>C | 2318 | FLNC | Uncertain significance | -1 | RCV002880537; | N | 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 | 7 | 128497393 | 128497393 | | | NC_000007.13:g.128497393G>C | - | | | NM_001458.5(FLNC):c.7780+10A>G | 2318 | FLNC | Benign/Likely benign | 201149834 | RCV000117083|RCV000541257|RCV002262707; | N | MedGen: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 | 7 | 128497400 | 128497400 | | | 7:g.128497400A>G | ClinGen:CA152883 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7780+11G>C | 2318 | FLNC | Likely benign | -1 | RCV002908985; | N | 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 | 7 | 128497401 | 128497401 | | | NC_000007.13:g.128497401G>C | - | | | NM_001458.5(FLNC):c.7780+12T>C | 2318 | FLNC | Likely benign | 1809110821 | RCV002141853; | N | 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 | 7 | 128497402 | 128497402 | | | 128497402 | - | | | NM_001458.5(FLNC):c.7780+15G>C | 2318 | FLNC | Likely benign | 1428983586 | RCV002076463; | N | 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 | 7 | 128497405 | 128497405 | | | 128497405 | - | | | NM_001458.5(FLNC):c.7780+15G>T | 2318 | FLNC | Likely benign | -1 | RCV002711978; | N | 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 | 7 | 128497405 | 128497405 | | | NC_000007.13:g.128497405G>T | - | | | NM_001458.5(FLNC):c.7780+16G>C | 2318 | FLNC | Likely benign | -1 | RCV003060120; | N | 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 | 7 | 128497406 | 128497406 | | | NC_000007.13:g.128497406G>C | - | | | NM_001458.5(FLNC):c.7780+19G>T | 2318 | FLNC | Likely benign | -1 | RCV003091488; | N | 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 | 7 | 128497409 | 128497409 | | | NC_000007.13:g.128497409G>T | - | | | NM_001458.5(FLNC):c.7780+19G>A | 2318 | FLNC | Likely benign | -1 | RCV003109796; | N | 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 | 7 | 128497409 | 128497409 | | | NC_000007.13:g.128497409G>A | - | | | NM_001458.5(FLNC):c.7780+20A>G | 2318 | FLNC | Likely benign | 1287178307 | RCV002219316; | N | 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 | 7 | 128497410 | 128497410 | | | 128497410 | - | | | NC_000007.13:g.(?_128498042)_(128498597_?)dup | 2318 | FLNC | Uncertain significance | -1 | RCV000649275; | N | 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 | 7 | 128498042 | 128498597 | | | | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NC_000007.13:g.(?_128498042)_(128498291_?)dup | 2318 | FLNC | Uncertain significance | -1 | RCV002036962; | N | 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 | 7 | 128498042 | 128498291 | | | -1 | - | | | NC_000007.13:g.(?_128498042)_(128498577_?)dup | 2318 | FLNC | Uncertain significance | -1 | RCV001994994; | N | 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 | 7 | 128498042 | 128498577 | | | -1 | - | | | NM_001458.5(FLNC):c.7781-18C>T | 2318 | FLNC | Likely benign | -1 | RCV003075202; | N | 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 | 7 | 128498044 | 128498044 | | | NC_000007.13:g.128498044C>T | - | | | NM_001458.5(FLNC):c.7781-16T>G | 2318 | FLNC | Likely benign | 1418982837 | RCV002073728; | N | 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 | 7 | 128498046 | 128498046 | | | 128498046 | - | | | NM_001458.5(FLNC):c.7781-12C>A | 2318 | FLNC | Likely benign | 767606683 | RCV002128456; | N | MONDO:MONDO: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 | 7 | 128498050 | 128498050 | | | 128498050 | - | | | NC_000007.13:g.(?_128498052)_(128498587_?)dup | 2318 | FLNC | Uncertain significance | -1 | RCV000794816; | N | 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 | 7 | 128498052 | 128498587 | | | | - | | | NM_001458.5(FLNC):c.7781-10C>T | 2318 | FLNC | Likely benign | 1425396629 | RCV001442167; | N | 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 | 7 | 128498052 | 128498052 | | | 128498052 | - | | | NM_001458.5(FLNC):c.7781-9A>G | 2318 | FLNC | Benign | 531760477 | RCV000873058|RCV003432835; | N | 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 | 7 | 128498053 | 128498053 | | | 7:g.128498053A>G | - | | | NM_001458.5(FLNC):c.7781-8C>A | 2318 | FLNC | Likely benign | 1363938739 | RCV001398114; | N | 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 | 7 | 128498054 | 128498054 | | | 128498054 | - | | | NM_001458.5(FLNC):c.7781-8C>G | 2318 | FLNC | Uncertain significance | 1363938739 | RCV002038371; | N | 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 | 7 | 128498054 | 128498054 | | | 128498054 | - | | | NM_001458.5(FLNC):c.7781-4T>C | 2318 | FLNC | Likely benign | 2128940565 | RCV001392830; | N | 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 | 7 | 128498058 | 128498058 | | | 128498058 | - | | | NM_001458.5(FLNC):c.7781-3C>T | 2318 | FLNC | Uncertain significance | 1444704657 | RCV000649227; | N | 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 | 7 | 128498059 | 128498059 | | | 7:g.128498059C>T | ClinGen:CA578151160 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7782T>C (p.Gly2594=) | 2318 | FLNC | Likely benign | 2128940567 | RCV001411969; | N | MONDO:MONDO: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 | 7 | 128498063 | 128498063 | | | 128498063 | - | | | NM_001458.5(FLNC):c.7784C>T (p.Pro2595Leu) | 2318 | FLNC | Uncertain significance | 756144972 | RCV000481218|RCV001345004; | N | MedGen: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 | 7 | 128498065 | 128498065 | | | 7:g.128498065C>T | ClinGen:CA4476365 | CN169374 not specified; | | NM_001458.5(FLNC):c.7785G>A (p.Pro2595=) | 2318 | FLNC | Likely benign | 780670412 | RCV002060767|RCV003303063|RCV003432689; | N | 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:CN230736|MedGen:C3661900 | 7 | 128498066 | 128498066 | | | 7:g.128498066G>A | ClinGen:CA4476366 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7791G>A (p.Leu2597=) | 2318 | FLNC | Likely benign | -1 | RCV002814814; | N | 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 | 7 | 128498072 | 128498072 | | | | - | | | NM_001458.5(FLNC):c.7794C>T (p.Ser2598=) | 2318 | FLNC | Likely benign | 1013763254 | RCV001426588; | N | MONDO:MONDO: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 | 7 | 128498075 | 128498075 | | | 7:g.128498075C>T | - | | | NM_001458.5(FLNC):c.7797A>G (p.Gly2599=) | 2318 | FLNC | Likely benign | 1317108204 | RCV001465854|RCV002414120; | N | 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 | 7 | 128498078 | 128498078 | | | 128498078 | - | | | NM_001458.5(FLNC):c.7803C>T (p.His2601=) | 2318 | FLNC | Likely benign | 749737805 | RCV000553877|RCV002413601; | N | 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:CN230736 | 7 | 128498084 | 128498084 | | | NC_000007.13:g.128498084C>T | ClinGen:CA4476367 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7807C>T (p.Leu2603Phe) | 2318 | FLNC | Uncertain significance | 746685461 | RCV001242034|RCV002411892|RCV003145467; | N | 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:CN230736|MedGen:CN517202 | 7 | 128498088 | 128498088 | | | 7:g.128498088C>T | - | | | NM_001458.5(FLNC):c.7812C>T (p.His2604=) | 2318 | FLNC | Likely benign | 770653559 | RCV002107212|RCV002407334; | N | 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 | 7 | 128498093 | 128498093 | | | 128498093 | - | | | NM_001458.5(FLNC):c.7813G>A (p.Glu2605Lys) | 2318 | FLNC | Uncertain significance | 1480530077 | RCV000649105; | N | 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 | 7 | 128498094 | 128498094 | | | 7:g.128498094G>A | ClinGen:CA369220064 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7819T>G (p.Ser2607Ala) | 2318 | FLNC | Uncertain significance | 1809143753 | RCV001340153; | N | 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 | 7 | 128498100 | 128498100 | | | 128498100 | - | | | NM_001458.5(FLNC):c.7823C>T (p.Thr2608Met) | 2318 | FLNC | Uncertain significance | 1175931652 | RCV000793421|RCV001766630|RCV002507364|RCV003166103|RCV003235397; | N | 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:CN517202|MONDO:MONDO:0013550,MedGen:C327 | 7 | 128498104 | 128498104 | | | 7:g.128498104C>T | - | | | NM_001458.5(FLNC):c.7824G>A (p.Thr2608=) | 2318 | FLNC | Likely benign | 776281149 | RCV001240232; | N | 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 | 7 | 128498105 | 128498105 | | | 7:g.128498105G>A | - | | | NM_001458.5(FLNC):c.7830G>C (p.Leu2610=) | 2318 | FLNC | Likely benign | 1032374300 | RCV000649254; | N | 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 | 7 | 128498111 | 128498111 | | | 7:g.128498111G>C | ClinGen:CA166196082 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7832T>G (p.Val2611Gly) | 2318 | FLNC | Uncertain significance | 2128940575 | RCV001366235; | N | 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 | 7 | 128498113 | 128498113 | | | 128498113 | - | | | NM_001458.5(FLNC):c.7834G>A (p.Glu2612Lys) | 2318 | FLNC | Uncertain significance | 1183050599 | RCV000530031|RCV000786136; | N | 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:CN517202 | 7 | 128498115 | 128498115 | | | 7:g.128498115G>A | ClinGen:CA369220120 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7836G>C (p.Glu2612Asp) | 2318 | FLNC | Uncertain significance | -1 | RCV002295704; | N | MONDO:MONDO: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 | 7 | 128498117 | 128498117 | | | 128498117 | - | | | NM_001458.5(FLNC):c.7841_7842del (p.Val2614fs) | 2318 | FLNC | Pathogenic/Likely pathogenic | 1554402003 | RCV000797152|RCV001535530|RCV003141783; | N | 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:C3279722,OMIM:614065 | 7 | 128498120 | 128498121 | | | 7:g.128498120_128498121del | - | | | NM_001458.5(FLNC):c.7840G>A (p.Val2614Met) | 2318 | FLNC | Uncertain significance | 745434129 | RCV001316094|RCV002412014; | N | 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 | 7 | 128498121 | 128498121 | | | 128498121 | - | | | NM_001458.5(FLNC):c.7847A>C (p.Lys2616Thr) | 2318 | FLNC | Uncertain significance | 1585172975 | RCV001895295; | N | 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 | 7 | 128498128 | 128498128 | | | 128498128 | - | | | NM_001458.5(FLNC):c.7861C>T (p.Arg2621Trp) | 2318 | FLNC | Uncertain significance | 1411832198 | RCV000805257; | N | 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 | 7 | 128498142 | 128498142 | | | 7:g.128498142C>T | - | | | NM_001458.5(FLNC):c.7862G>A (p.Arg2621Gln) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 201636548 | RCV000178623|RCV001082971|RCV002408773|RCV003150053; | N | 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:CN230736|Human Phenotype | 7 | 128498143 | 128498143 | | | 7:g.128498143G>A | ClinGen:CA245809 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7864G>T (p.Gly2622Cys) | 2318 | FLNC | Uncertain significance | 2128940583 | RCV001989187; | N | 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:614065, Orphanet:63273 | 7 | 128498145 | 128498145 | | | 128498145 | - | | | NM_001458.5(FLNC):c.7866C>T (p.Gly2622=) | 2318 | FLNC | Likely benign | -1 | RCV002412250|RCV003103445; | N | MedGen: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:CN239310 | 7 | 128498147 | 128498147 | | | | - | | | NM_001458.5(FLNC):c.7869C>T (p.Ser2623=) | 2318 | FLNC | Likely benign | -1 | RCV003064174; | N | 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 | 7 | 128498150 | 128498150 | | | | - | | | NM_001458.5(FLNC):c.7875C>T (p.Tyr2625=) | 2318 | FLNC | Likely benign | 373614270 | RCV000876085|RCV002409112; | N | 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:CN230736 | 7 | 128498156 | 128498156 | | | 7:g.128498156C>T | - | | | NM_001458.5(FLNC):c.7877G>A (p.Ser2626Asn) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 2639142 | RCV000700197|RCV001585647; | N | 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 | 7 | 128498158 | 128498158 | | | 7:g.128498158G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7893CTC[1] (p.Ser2633del) | 2318 | FLNC | Uncertain significance | 767277303 | RCV001036904; | N | 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 | 7 | 128498174 | 128498176 | | | 7:g.128498174_128498176del | - | | | NM_001458.5(FLNC):c.7903G>A (p.Ala2635Thr) | 2318 | FLNC | Uncertain significance | 1009545372 | RCV000792668; | N | 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 | 7 | 128498184 | 128498184 | | | 7:g.128498184G>A | - | | | NM_001458.5(FLNC):c.7906A>T (p.Ser2636Cys) | 2318 | FLNC | Uncertain significance | 1563005954 | RCV000688514; | N | 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 | 7 | 128498187 | 128498187 | | | 7:g.128498187A>T | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7907G>T (p.Ser2636Ile) | 2318 | FLNC | Uncertain significance | 1424306829 | RCV001295785|RCV003166645; | N | 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 | 7 | 128498188 | 128498188 | | | 128498188 | - | | | NM_001458.5(FLNC):c.7911G>A (p.Lys2637=) | 2318 | FLNC | Likely benign | -1 | RCV003076837; | N | 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 | 7 | 128498192 | 128498192 | | | | - | | | NM_001458.5(FLNC):c.7915G>A (p.Val2639Met) | 2318 | FLNC | Uncertain significance | 2128940599 | RCV002000718; | N | 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 | 7 | 128498196 | 128498196 | | | 128498196 | - | | | NM_001458.5(FLNC):c.7921C>T (p.Arg2641Trp) | 2318 | FLNC | Uncertain significance | 750629528 | RCV001196060|RCV001863100; | N | 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; MONDO:MONDO:0014883,MedGen:C4310749,OMIM:617047 | 7 | 128498202 | 128498202 | | | 7:g.128498202C>T | - | | | NM_001458.5(FLNC):c.7922G>A (p.Arg2641Gln) | 2318 | FLNC | Uncertain significance | 760857362 | RCV000516343|RCV000816284; | N | 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:CN239310 | 7 | 128498203 | 128498203 | | | NC_000007.13:g.128498203G>A | ClinGen:CA4476382 | CN169374 not specified; | | NM_001458.5(FLNC):c.7925del (p.Gly2642fs) | 2318 | FLNC | Likely pathogenic | -1 | RCV003147882|RCV003147880|RCV003147881; | N | 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 | 7 | 128498203 | 128498203 | | | | - | | | NM_001458.5(FLNC):c.7929del (p.Leu2645fs) | 2318 | FLNC | Pathogenic/Likely pathogenic | 1554402015 | RCV000649164|RCV003311868; | N | 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:C3661900 | 7 | 128498210 | 128498210 | | | NC_000007.13:g.128498210del | ClinGen:CA658797008 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7929T>C (p.Pro2643=) | 2318 | FLNC | Likely benign | -1 | RCV002620057; | N | 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 | 7 | 128498210 | 128498210 | | | | - | | | NM_001458.5(FLNC):c.7931G>C (p.Gly2644Ala) | 2318 | FLNC | Uncertain significance | 2128940603 | RCV001372611; | N | 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 | 7 | 128498212 | 128498212 | | | 128498212 | - | | | NM_001458.5(FLNC):c.7933C>T (p.Leu2645=) | 2318 | FLNC | Likely benign | 571671091 | RCV001392173|RCV002420501; | N | 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 | 7 | 128498214 | 128498214 | | | 7:g.128498214C>T | ClinGen:CA4476383 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7934T>C (p.Leu2645Pro) | 2318 | FLNC | Uncertain significance | -1 | RCV002996350; | N | 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 | 7 | 128498215 | 128498215 | | | NC_000007.13:g.128498215T>C | - | | | NM_001458.5(FLNC):c.7935G>A (p.Leu2645=) | 2318 | FLNC | Likely benign | 754397217 | RCV002073702; | N | 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 | 7 | 128498216 | 128498216 | | | 128498216 | - | | | NM_001458.5(FLNC):c.7946T>C (p.Phe2649Ser) | 2318 | FLNC | Uncertain significance | 755387909 | RCV001221479|RCV002418763|RCV002484204; | N | 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:CN230736|MONDO:MONDO:0014883,MedGen:C431 | 7 | 128498227 | 128498227 | | | 7:g.128498227T>C | - | | | NM_001458.5(FLNC):c.7947C>T (p.Phe2649=) | 2318 | FLNC | Benign/Likely benign | 368849358 | RCV000244124|RCV000542823|RCV000578026|RCV000578028|RCV000577968|RCV000578102|RCV000578104|RCV001697691|RCV002418082; | N | MedGen: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:C183 | 7 | 128498228 | 128498228 | | | NC_000007.13:g.128498228C>T | ClinGen:CA4476386 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7948G>A (p.Val2650Met) | 2318 | FLNC | Uncertain significance | 372172779 | RCV000697305|RCV002422538|RCV002485698|RCV003144538; | N | 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:CN230736|MONDO:MONDO:0012289,MedGen:C183 | 7 | 128498229 | 128498229 | | | 7:g.128498229G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7949T>A (p.Val2650Glu) | 2318 | FLNC | Uncertain significance | -1 | RCV002617280; | N | 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 | 7 | 128498230 | 128498230 | | | NC_000007.13:g.128498230T>A | - | | | NM_001458.5(FLNC):c.7971C>T (p.Thr2657=) | 2318 | FLNC | Likely benign | 758833148 | RCV000897051|RCV002416108; | N | 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:CN230736 | 7 | 128498252 | 128498252 | | | 7:g.128498252C>T | - | | | NM_001458.5(FLNC):c.7972G>A (p.Val2658Met) | 2318 | FLNC | Uncertain significance | 1269145751 | RCV000559964|RCV002223225|RCV002420502; | N | 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:CN517202|MedGen:CN230736 | 7 | 128498253 | 128498253 | | | 7:g.128498253G>A | ClinGen:CA369220752 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7980C>A (p.Cys2660Ter) | 2318 | FLNC | Pathogenic | 2128940614 | RCV002007281; | N | 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 | 7 | 128498261 | 128498261 | | | 128498261 | - | | | NM_001458.5(FLNC):c.7990+9C>T | 2318 | FLNC | Benign/Likely benign | 566679569 | RCV000439956|RCV000531620|RCV001700113; | N | MedGen: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 | 7 | 128498280 | 128498280 | | | 7:g.128498280C>T | ClinGen:CA4476391 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7990+15dup | 2318 | FLNC | Benign | -1 | RCV003088404; | N | 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 | 7 | 128498280 | 128498281 | | | NC_000007.13:g.128498286dup | - | | | NM_001458.5(FLNC):c.7990+10G>A | 2318 | FLNC | Likely benign | 745488329 | RCV000649233; | N | 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 | 7 | 128498281 | 128498281 | | | NC_000007.13:g.128498281G>A | ClinGen:CA4476394 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7990+10G>C | 2318 | FLNC | Likely benign | 745488329 | RCV002154114; | N | 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 | 7 | 128498281 | 128498281 | | | 128498281 | - | | | NM_001458.5(FLNC):c.7990+15del | 2318 | FLNC | Likely benign | 755806046 | RCV002108495; | N | 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 | 7 | 128498281 | 128498281 | | | 128498280 | - | | | NM_001458.5(FLNC):c.7990+11G>C | 2318 | FLNC | Likely benign | 779393533 | RCV002199102; | N | 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 | 7 | 128498282 | 128498282 | | | 128498282 | - | | | NM_001458.5(FLNC):c.7990+11G>A | 2318 | FLNC | Uncertain significance | -1 | RCV002663955; | N | 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 | 7 | 128498282 | 128498282 | | | NC_000007.13:g.128498282G>A | - | | | NM_001458.5(FLNC):c.7990+19G>T | 2318 | FLNC | Benign/Likely benign | 534098005 | RCV002101936|RCV003403705; | N | 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:CN169374 | 7 | 128498290 | 128498290 | | | 128498290 | - | | | NM_001458.5(FLNC):c.7990+20C>T | 2318 | FLNC | Likely benign | 1554402030 | RCV000605553|RCV002062809; | N | 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 | 7 | 128498291 | 128498291 | | | 7:g.128498291C>T | ClinGen:CA658797009 | CN169374 not specified; | | NM_001458.5(FLNC):c.7991-19C>T | 2318 | FLNC | Likely benign | 537052947 | RCV000429225|RCV001702482|RCV001865376; | N | MedGen: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:63273 | 7 | 128498371 | 128498371 | | | 7:g.128498371C>T | ClinGen:CA4476408 | CN169374 not specified; | | NC_000007.14:g.(?_128858326)_(128858533_?)del | 2318 | FLNC | Uncertain significance | -1 | RCV001032715; | N | 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 | 7 | 128498380 | 128498587 | | | -1 | - | | | NM_001458.5(FLNC):c.7991-8C>T | 2318 | FLNC | Likely benign | -1 | RCV002710878; | N | 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 | 7 | 128498382 | 128498382 | | | NC_000007.13:g.128498382C>T | - | | | NM_001458.5(FLNC):c.7991-4C>G | 2318 | FLNC | Likely benign | 1303400196 | RCV000935587; | N | 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 | 7 | 128498386 | 128498386 | | | 7:g.128498386C>G | - | | | NM_001458.5(FLNC):c.7991-3C>T | 2318 | FLNC | Uncertain significance | -1 | RCV002740867; | N | 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 | 7 | 128498387 | 128498387 | | | NC_000007.13:g.128498387C>T | - | | | NM_001458.5(FLNC):c.7995C>A (p.Thr2665=) | 2318 | FLNC | Likely benign | 2128940644 | RCV002136127; | N | 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 | 7 | 128498394 | 128498394 | | | 128498394 | - | | | NM_001458.5(FLNC):c.7998C>T (p.Asn2666=) | 2318 | FLNC | Likely benign | 778253796 | RCV001466225|RCV002421059; | N | 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 | 7 | 128498397 | 128498397 | | | 128498397 | - | | | NM_001458.5(FLNC):c.7999ATG[2] (p.Met2669del) | 2318 | FLNC | Uncertain significance | 1809158348 | RCV001344746; | N | 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 | 7 | 128498398 | 128498400 | | | 128498397 | - | | | NM_001458.5(FLNC):c.8003T>C (p.Met2668Thr) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 200502811 | RCV000194945|RCV000726864|RCV001083390|RCV002415824; | N | MedGen: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:CN230736 | 7 | 128498402 | 128498402 | | | 7:g.128498402T>C | ClinGen:CA209448 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.8013C>T (p.Gly2671=) | 2318 | FLNC | Likely benign | 369678123 | RCV001217767|RCV001698277|RCV002418316; | N | 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:CN230736 | 7 | 128498412 | 128498412 | | | 7:g.128498412C>T | ClinGen:CA4476411 | CN169374 not specified; | | NM_001458.5(FLNC):c.8014G>A (p.Val2672Met) | 2318 | FLNC | Uncertain significance | -1 | RCV002583565; | N | 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 | 7 | 128498413 | 128498413 | | | NC_000007.13:g.128498413G>A | - | | | NM_001458.5(FLNC):c.8016G>A (p.Val2672=) | 2318 | FLNC | Likely benign | -1 | RCV002419237|RCV003099818; | N | MedGen: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:CN239310 | 7 | 128498415 | 128498415 | | | | - | | | NM_001458.5(FLNC):c.8019C>G (p.His2673Gln) | 2318 | FLNC | Uncertain significance | 112180788 | RCV000689353|RCV002422487|RCV003144501; | N | 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:CN230736|MedGen:CN517202 | 7 | 128498418 | 128498418 | | | 7:g.128498418C>G | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.8019C>T (p.His2673=) | 2318 | FLNC | Likely benign | 112180788 | RCV001401855|RCV002416055; | N | 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 | 7 | 128498418 | 128498418 | | | 7:g.128498418C>T | - | | | NM_001458.5(FLNC):c.8020G>A (p.Gly2674Ser) | 2318 | FLNC | Uncertain significance | 372338218 | RCV000687415|RCV002422476; | N | 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:CN230736 | 7 | 128498419 | 128498419 | | | 7:g.128498419G>A | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.8023C>T (p.Pro2675Ser) | 2318 | FLNC | Uncertain significance | 1563006093 | RCV001931620; | N | 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 | 7 | 128498422 | 128498422 | | | 128498422 | - | | | NM_001458.5(FLNC):c.8028G>A (p.Lys2676=) | 2318 | FLNC | Likely benign | -1 | RCV002885098; | N | 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 | 7 | 128498427 | 128498427 | | | | - | | | NM_001458.5(FLNC):c.8033C>T (p.Pro2678Leu) | 2318 | FLNC | Uncertain significance | -1 | RCV002790661; | N | 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 | 7 | 128498432 | 128498432 | | | NC_000007.13:g.128498432C>T | - | | | NM_001458.5(FLNC):c.8047T>A (p.Tyr2683Asn) | 2318 | FLNC | Uncertain significance | 1377893206 | RCV001054642|RCV003283915; | N | 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 | 7 | 128498446 | 128498446 | | | 7:g.128498446T>A | - | | | NM_001458.5(FLNC):c.8049C>T (p.Tyr2683=) | 2318 | FLNC | Benign/Likely benign | 183104951 | RCV000434127|RCV000556768|RCV002418284|RCV003311811; | N | 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|MedGen:CN230736|MedGen:C3661900 | 7 | 128498448 | 128498448 | | | 7:g.128498448C>T | ClinGen:CA4476417 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.8049C>G (p.Tyr2683Ter) | 2318 | FLNC | Uncertain significance | -1 | RCV003340793; | N | MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273 | 7 | 128498448 | 128498448 | | | | - | | | NM_001458.5(FLNC):c.8051T>C (p.Val2684Ala) | 2318 | FLNC | Uncertain significance | 1585173265 | RCV000795898; | N | 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 | 7 | 128498450 | 128498450 | | | 7:g.128498450T>C | - | | | NM_001458.5(FLNC):c.8051del (p.Val2684fs) | 2318 | FLNC | Pathogenic | 1809161384 | RCV001999940; | N | 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 | 7 | 128498450 | 128498450 | | | 128498449 | - | | | NM_001458.5(FLNC):c.8059A>G (p.Met2687Val) | 2318 | FLNC | Uncertain significance | 369110441 | RCV001065064|RCV003145327; | N | 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:CN517202 | 7 | 128498458 | 128498458 | | | 7:g.128498458A>G | - | | | NM_001458.5(FLNC):c.8066A>T (p.Asn2689Ile) | 2318 | FLNC | Uncertain significance | -1 | RCV002419359|RCV003103470; | N | MedGen: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:CN239310 | 7 | 128498465 | 128498465 | | | 128498465 | - | | | NM_001458.5(FLNC):c.8069G>A (p.Arg2690Gln) | 2318 | FLNC | Uncertain significance | 1585173273 | RCV000801929|RCV002495078; | N | 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:C1836050,OMIM:609524 | 7 | 128498468 | 128498468 | | | 7:g.128498468G>A | - | | | NM_001458.5(FLNC):c.8070G>T (p.Arg2690=) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 373087529 | RCV000289047|RCV000696363|RCV002418136; | N | MedGen: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 | 7 | 128498469 | 128498469 | | | 7:g.128498469G>T | ClinGen:CA4476420 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.8073G>A (p.Val2691=) | 2318 | FLNC | Likely benign | 577664185 | RCV001505479; | N | 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 | 7 | 128498472 | 128498472 | | | 128498472 | - | | | NM_001458.5(FLNC):c.8076C>A (p.Tyr2692Ter) | 2318 | FLNC | Pathogenic/Likely pathogenic | 1563006133 | RCV000711696|RCV001861966; | N | MedGen: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 | 7 | 128498475 | 128498475 | | | NC_000007.13:g.128498475C>A | - | | | NM_001458.5(FLNC):c.8079T>C (p.Asn2693=) | 2318 | FLNC | Likely benign | 376051052 | RCV000890171|RCV002416099; | N | 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:CN230736 | 7 | 128498478 | 128498478 | | | 7:g.128498478T>C | - | | | NM_001458.5(FLNC):c.8080G>A (p.Val2694Ile) | 2318 | FLNC | Conflicting interpretations of pathogenicity | 765388755 | RCV000929233|RCV002416164|RCV003145236; | N | 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:614065, Orphanet:63273|MedGen:CN230736|MedGen:CN517202 | 7 | 128498479 | 128498479 | | | 7:g.128498479G>A | - | | | NM_001458.5(FLNC):c.8087A>G (p.Tyr2696Cys) | 2318 | FLNC | Uncertain significance | 2128940675 | RCV001925829; | N | 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 | 7 | 128498486 | 128498486 | | | 128498486 | - | | | NM_001458.5(FLNC):c.8089A>G (p.Thr2697Ala) | 2318 | FLNC | Uncertain significance | 1292665355 | RCV000795077|RCV002298774; | N | 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:CN517202 | 7 | 128498488 | 128498488 | | | 7:g.128498488A>G | - | | | NM_001458.5(FLNC):c.8091T>C (p.Thr2697=) | 2318 | FLNC | Likely benign | 369131204 | RCV000842755|RCV001503616|RCV002415968; | N | MedGen: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:CN230736 | 7 | 128498490 | 128498490 | | | 7:g.128498490T>C | - | | | NM_001458.5(FLNC):c.8098G>A (p.Glu2700Lys) | 2318 | FLNC | Uncertain significance | 2128940691 | RCV002044455; | N | MONDO:MONDO: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 | 7 | 128498497 | 128498497 | | | 128498497 | - | | | NM_001458.5(FLNC):c.8103A>T (p.Lys2701Asn) | 2318 | FLNC | Uncertain significance | -1 | RCV002294972; | N | 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 | 7 | 128498502 | 128498502 | | | 128498502 | - | | | NM_001458.5(FLNC):c.8107del (p.Asp2703fs) | 2318 | FLNC | Pathogenic/Likely pathogenic | 1563006160 | RCV000685726|RCV003226966|RCV003237321; | N | MONDO:MONDO: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:C5830688 | 7 | 128498503 | 128498503 | | | 7:g.128498503_128498503del | OMIM:102565.0018 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.8106G>A (p.Gly2702=) | 2318 | FLNC | Likely benign | 1408621523 | RCV002143895|RCV002416501; | N | 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:CN230736 | 7 | 128498505 | 128498505 | | | 128498505 | - | | | NM_001458.5(FLNC):c.8109C>G (p.Asp2703Glu) | 2318 | FLNC | Uncertain significance | 1809164297 | RCV001222191; | N | 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 | 7 | 128498508 | 128498508 | | | 7:g.128498508C>G | - | | | NM_001458.5(FLNC):c.8110_8111insC (p.Tyr2704fs) | 2318 | FLNC | Pathogenic | -1 | RCV002886265; | N | 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 | 7 | 128498509 | 128498510 | | | NC_000007.13:g.128498509_128498510insC | - | | | NM_001458.5(FLNC):c.8112C>T (p.Tyr2704=) | 2318 | FLNC | Likely benign | 2128940695 | RCV002149903; | N | 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 | 7 | 128498511 | 128498511 | | | 128498511 | - | | | NM_001458.5(FLNC):c.8112C>A (p.Tyr2704Ter) | 2318 | FLNC | Uncertain significance | -1 | RCV002937539; | N | 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 | 7 | 128498511 | 128498511 | | | NC_000007.13:g.128498511C>A | - | | | NM_001458.5(FLNC):c.8113A>C (p.Ile2705Leu) | 2318 | FLNC | Uncertain significance | 1809164468 | RCV001069389; | N | 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 | 7 | 128498512 | 128498512 | | | 7:g.128498512A>C | - | | | NM_001458.5(FLNC):c.8114T>C (p.Ile2705Thr) | 2318 | FLNC | Uncertain significance | 553714847 | RCV001061044; | N | 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 | 7 | 128498513 | 128498513 | | | 7:g.128498513T>C | - | | | NM_001458.5(FLNC):c.8117T>C (p.Leu2706Pro) | 2318 | FLNC | Uncertain significance | 2128940703 | RCV002018000; | N | 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 | 7 | 128498516 | 128498516 | | | 128498516 | - | | | NM_001458.5(FLNC):c.8118C>T (p.Leu2706=) | 2318 | FLNC | Benign | 28379666 | RCV000117085|RCV000537483|RCV001795167|RCV002415599; | N | MedGen: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:CN230736 | 7 | 128498517 | 128498517 | | | 7:g.128498517C>T | ClinGen:CA152887 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.8118_8121delinsTATC (p.Leu2706_Ile2707=) | 2318 | FLNC | Benign/Likely benign | 2128940705 | RCV002208460|RCV002502029|RCV003230740; | N | 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:C3279722,OMIM:614065 | 7 | 128498517 | 128498520 | | | 128498517 | - | | | NM_001458.5(FLNC):c.8121T>C (p.Ile2707=) | 2318 | FLNC | Benign | 28437296 | RCV000117086|RCV000550108|RCV001795168|RCV002415600; | N | MedGen: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:CN230736 | 7 | 128498520 | 128498520 | | | 7:g.128498520T>C | ClinGen:CA152890 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.8121T>G (p.Ile2707Met) | 2318 | FLNC | Uncertain significance | 28437296 | RCV001066522; | N | 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 | 7 | 128498520 | 128498520 | | | 7:g.128498520T>G | - | | | NM_001458.5(FLNC):c.8121_8122inv (p.Val2708Ile) | 2318 | FLNC | Uncertain significance | -1 | RCV001963715; | N | 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 | 7 | 128498520 | 128498521 | | | 128498520 | - | | | NM_001458.5(FLNC):c.8130G>A (p.Trp2710Ter) | 2318 | FLNC | Pathogenic | 121909518 | RCV000019978|RCV001052798|RCV001091493; | N | MONDO: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:61704 | 7 | 128498529 | 128498529 | | | 7:g.128498529G>A | ClinGen:CA258151,OMIM:102565.0001 | C1836050 609524 Myofibrillar myopathy, filamin C-related; | | NM_001458.5(FLNC):c.8131G>T (p.Gly2711Cys) | 2318 | FLNC | Uncertain significance | 1809165876 | RCV001303374; | N | 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 | 7 | 128498530 | 128498530 | | | 128498530 | - | | | NM_001458.5(FLNC):c.8131G>A (p.Gly2711Ser) | 2318 | FLNC | Uncertain significance | 1809165876 | RCV001916327; | N | 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 | 7 | 128498530 | 128498530 | | | 128498530 | - | | | NM_001458.5(FLNC):c.8136C>T (p.Asp2712=) | 2318 | FLNC | Likely benign | 748104907 | RCV001434031|RCV001544639|RCV001796494|RCV002420980; | N | 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:C3661900|MedGen:CN169374|MedGen:CN230736 | 7 | 128498535 | 128498535 | | | 128498535 | - | | | NM_001458.5(FLNC):c.8140dup (p.Ser2714fs) | 2318 | FLNC | Uncertain significance | 1554402084 | RCV000649176; | N | 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 | 7 | 128498536 | 128498537 | | | NC_000007.13:g.128498539dup | ClinGen:CA658797010 | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.8137G>A (p.Glu2713Lys) | 2318 | FLNC | Uncertain significance | 758271134 | RCV002045092; | N | 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 | 7 | 128498536 | 128498536 | | | 128498536 | - | | | NM_001458.5(FLNC):c.8143G>T (p.Val2715Phe) | 2318 | FLNC | Uncertain significance | 370832402 | RCV001371937; | N | 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 | 7 | 128498542 | 128498542 | | | 128498542 | - | | | NM_001458.5(FLNC):c.8145C>T (p.Val2715=) | 2318 | FLNC | Likely benign | 746842532 | RCV000877916|RCV001552813|RCV002416087|RCV003150369; | N | 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:CN517202|MedGen:CN230736|Human Phenotype | 7 | 128498544 | 128498544 | | | 7:g.128498544C>T | - | | | NM_001458.5(FLNC):c.8156C>T (p.Pro2719Leu) | 2318 | FLNC | Uncertain significance | 1585173375 | RCV000793678; | N | 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 | 7 | 128498555 | 128498555 | | | 7:g.128498555C>T | - | | | NM_001458.5(FLNC):c.8163A>T (p.Lys2721Asn) | 2318 | FLNC | Uncertain significance | 2128940727 | RCV001969667; | N | 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 | 7 | 128498562 | 128498562 | | | 128498562 | - | | | NM_001458.5(FLNC):c.8168A>T (p.Lys2723Met) | 2318 | FLNC | Uncertain significance | -1 | RCV003040925; | N | 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 | 7 | 128498567 | 128498567 | | | NC_000007.13:g.128498567A>T | - | | | NM_001458.5(FLNC):c.8170G>T (p.Val2724Phe) | 2318 | FLNC | Uncertain significance | 1220183666 | RCV001918080; | N | 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 | 7 | 128498569 | 128498569 | | | 128498569 | - | | | NM_001458.5(FLNC):c.8171T>C (p.Val2724Ala) | 2318 | FLNC | Uncertain significance | 770027151 | RCV001337650; | N | 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 | 7 | 128498570 | 128498570 | | | 128498570 | - | | | NM_001458.5(FLNC):c.8174C>G (p.Pro2725Arg) | 2318 | FLNC | Uncertain significance | 2128940731 | RCV001970454; | N | 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 | 7 | 128498573 | 128498573 | | | 128498573 | - | | | NM_001458.5(FLNC):c.8174C>T (p.Pro2725Leu) | 2318 | FLNC | Uncertain significance | 2128940731 | RCV001903763; | N | 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:614065, Orphanet:63273 | 7 | 128498573 | 128498573 | | | 128498573 | - | | | NM_001458.5(FLNC):c.8175T>G (p.Pro2725=) | 2318 | FLNC | Likely benign | 374175186 | RCV000919873|RCV001492645|RCV002427282; | N | MedGen: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:CN230736 | 7 | 128498574 | 128498574 | | | 7:g.128498574T>G | - | | | NM_001458.5(FLNC):c.8175T>C (p.Pro2725=) | 2318 | FLNC | Likely benign | 374175186 | RCV002207992; | N | 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 | 7 | 128498574 | 128498574 | | | 128498574 | - | | | NM_001458.5(FLNC):c.8178A>G (p.Ter2726Trp) | 2318 | FLNC | Uncertain significance | 1563006225 | RCV000695617; | N | 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 | 7 | 128498577 | 128498577 | | | 7:g.128498577A>G | - | C4310749 617047 Cardiomyopathy, familial hypertrophic, 26; | | NM_001458.5(FLNC):c.7990G>C (p.Gly2664Arg) | -1 | FLNC-AS1;FLNC | Uncertain significance | -1 | RCV003330144; | N | MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273 | 7 | 128498271 | 128498271 | | | | - | | | NM_024919.6(FRMD1):c.508G>T (p.Val170Leu) | 79981 | FRMD1 | Uncertain significance | 199740559 | RCV000714594; | N | MONDO:MONDO:0013550,MedGen:C3279722,OMIM:614065, Orphanet:63273 | 6 | 168465691 | 168465691 | | | NC_000006.11:g.168465691C>A | - | | |
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