FLNC (Filamin-C) variants and mutations
FLNC (also known as Filamin-C) is a human protein-coding gene encoding a filamin-C protein. It crosslinks actin and anchors signaling and structural proteins at Z-discs, costameres, and other mechanically stressed sites in striated muscle. Pathogenic variants can cause arrhythmogenic or dilated cardiomyopathy as well as myofibrillar and distal myopathies. This analysis covers 4,379 FLNC variants and mutations. Of these, 73% have computational variant effect predictions. Disease context includes hypertrophic cardiomyopathy 26, myofibrillar myopathy 5, and distal myopathy with posterior leg and anterior hand involvement. Example FLNC variants include M2T, M2V, and M2L.
Variant analysis overview
- Gene: FLNC
- Protein: Filamin-C
- UniProt accession: Q14315
- Organism: Homo sapiens
- Variants analyzed: 4379
- Variant scope: all variants
- Completed: 2026-08-10
Variant and mutation evidence
- Variant composition: 4,088 unspecified-consequence records; 135 missense variants; 122 synonymous variants; 2 in-frame deletions; 13 frameshift variants; 8 stop-gained variants; 4 splice-region variants; 4 in-frame insertions; 3 substitution
- Prediction scores: 3,215 variants have prediction scores (73% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: hypertrophic cardiomyopathy 26, myofibrillar myopathy 5, distal myopathy with posterior leg and anterior hand involvement, dilated cardiomyopathy, Muscle filaminopathy, familial restrictive cardiomyopathy, familial isolated restrictive cardiomyopathy, cardiomyopathy, Abnormality of the cardiovascular system, myopathy, familial dilated cardiomyopathy, autosomal dominant dilated cardiomyopathy.
Protein structure and variant hotspots
- Protein features: 2 domains; 15 post-translational modification sites.
- Structural context: 539 variants have structural context.
- PTM context: 20 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.
Notable FLNC variants
Examples include M2T, M2V, M2L, M2R, M2I, N4S, S5G, S5R. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M2T (p.Met2Thr), rs2536604657, ClinGen CA369215338, ClinVar RCV006620853, REVEL 0.40, CADD 22.80, Uncertain significance, Myofibrillar myopathy 5; Hypertrophic cardiomyopathy 26; Distal myopathy with po
- M2V (p.Met2Val), rs2536604654, ClinGen CA369215332, ClinVar RCV006624340, Uncertain significance, not provided; Myofibrillar myopathy 5; Distal myopathy with posterior leg and an
- M2L (p.Met2Leu), gnomAD 7-128830641-A-T, REVEL 0.41, CADD 22.80
- M2R (p.Met2Arg), gnomAD 7-128830642-T-G, REVEL 0.37, CADD 24.30
- M2I (p.Met2Ile), gnomAD 7-128830643-G-T, REVEL 0.38, CADD 23.80
- N4S (p.Asn4Ser), rs2536604664, ClinGen CA369215383, ClinVar RCV003791496, REVEL 0.18, CADD 21.30, Uncertain significance, Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant; Myofibrillar m
- S5G (p.Ser5Gly), rs2128932075, ClinGen CA369215389, ClinVar RCV006610973, Ensembl rs2128932075, REVEL 0.25, CADD 22.60, Uncertain significance, Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand in
- S5R (p.Ser5Arg), rs759632330, ClinGen CA4473948, ClinVar RCV002397288, ClinVar RCV005627381, REVEL 0.17, CADD 22.50, Conflicting interpretations, Cardiovascular phenotype; not provided; Distal myopathy with posterior leg and a
- S5S (p.Ser5Ser), gnomAD 7-128830652-C-T, CADD 15.30
- G6D (p.Gly6Asp), rs1234560249, ClinGen CA369215407, ClinVar RCV004511028, ClinVar RCV006613294, AlphaMissense 0.12, MetaLR 0.41, Conflicting interpretations, Cardiovascular phenotype; Distal myopathy with posterior leg and anterior hand i
- G6R (p.Gly6Arg), rs1284761356, ClinGen CA369215405, ClinVar RCV006607716, TOPMed rs1284761356, AlphaMissense 0.22, MetaLR 0.45, Uncertain significance, Distal myopathy with posterior leg and anterior hand involvement; not provided
- G6S (p.Gly6Ser), rs1284761356, ClinGen CA369215404, ClinVar RCV006608201, TOPMed rs1284761356, REVEL 0.21, AlphaMissense 0.22, Uncertain significance, Myofibrillar myopathy 5; Hypertrophic cardiomyopathy 26; not provided
- Y7* (p.Tyr7Ter), ExAC rs201179596, gnomAD rs201179596, CADD 35.00, Likely benign
- Y7D (p.Tyr7Asp), rs896068048, ClinGen CA166206906, ClinVar RCV002416389, ClinVar RCV006608259, REVEL 0.29, CADD 23.60, Uncertain significance, Cardiovascular phenotype; Myofibrillar myopathy 5; not provided
- Y7Y (p.Tyr7Tyr), rs201179596, gnomAD 7-128830658-C-T, CADD 11.30
- S8P (p.Ser8Pro), rs544875797, ClinGen CA4473951, ClinVar RCV001683701, ClinVar RCV002445110, REVEL 0.14, CADD 16.00, Benign/Likely benign, Distal myopathy with posterior leg and anterior hand involvement; Myofibrillar m
- S8S (p.Ser8Ser), gnomAD 7-128830661-A-T, CADD 6.25
- D9A (p.Asp9Ala), gnomAD rs1270099029
- D9H (p.Asp9His), Ensembl rs2128932085, REVEL 0.24, CADD 23.90
- D9Y (p.Asp9Tyr), NCI-TCGA Cosmic COSV5795, Variant assessed as somatic; moderate impact.
- A10S (p.Ala10Ser), gnomAD rs1337938397, REVEL 0.28, CADD 10.50
- A10A (p.Ala10Ala), rs764501806, gnomAD 7-128830667-C-T, CADD 15.50
- G11C (p.Gly11Cys), rs370512642, ClinGen CA166206962, ClinVar RCV002320324, ClinVar RCV006608330, REVEL 0.42, CADD 25.40, Uncertain significance, Cardiovascular phenotype; Distal myopathy with posterior leg and anterior hand i
- G11S (p.Gly11Ser), rs370512642, ClinGen CA4473953, ClinVar RCV001592807, ClinVar RCV002325297, REVEL 0.21, CADD 23.20, Conflicting interpretations, Cardiovascular phenotype; Distal myopathy with posterior leg and anterior hand i
- G11V (p.Gly11Val), gnomAD rs1485141460, REVEL 0.30, CADD 23.20
- G11G (p.Gly11Gly), rs1807848891, gnomAD 7-128830670-C-A, CADD 13.80
- L12F (p.Leu12Phe), Ensembl rs1807848996, REVEL 0.20, CADD 14.10, Conflicting interpretations, Distal myopathy with posterior leg and anterior hand involvement; not provided
- L12I (p.Leu12Ile), Ensembl rs1807848996, Likely benign
- L12H (p.Leu12His), gnomAD 7-128830672-T-A, REVEL 0.24, CADD 22.10
- G13D (p.Gly13Asp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G13R (p.Gly13Arg), rs760318519, ClinGen CA369215471, ClinVar RCV006609157, ExAC rs760318519, REVEL 0.21, CADD 22.20, Uncertain significance, Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand in
- G13S (p.Gly13Ser), rs760318519, ClinGen CA4473954, ClinVar RCV006606824, ExAC rs760318519, REVEL 0.14, CADD 20.70, Uncertain significance, Distal myopathy with posterior leg and anterior hand involvement; Myofibrillar m
- G13G (p.Gly13Gly), gnomAD 7-128830676-C-T, CADD 14.30
- L14P (p.Leu14Pro), Ensembl rs2128932093
- L14L (p.Leu14Leu), rs1807849196, gnomAD 7-128830677-C-T, CADD 13.50
- G15S (p.Gly15Ser), rs1263243888, ClinGen CA369215481, ClinVar RCV004727093, ClinVar RCV005340750, REVEL 0.04, CADD 20.10, Uncertain significance, Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand in
- G15V (p.Gly15Val), rs766081127, ClinGen CA4473955, ClinVar RCV001234929, ClinVar RCV002327566, REVEL 0.04, CADD 6.63, Uncertain significance, Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand in
- G15D (p.Gly15Asp), gnomAD 7-128830681-G-A, REVEL 0.10, CADD 11.70
- G15G (p.Gly15Gly), gnomAD 7-128830682-C-G, CADD 5.36
- D16G (p.Asp16Gly), rs1807849706, ClinVar RCV005405023, ClinVar RCV006352783, ClinVar RCV006631368, REVEL 0.11, CADD 22.60, Conflicting interpretations, not specified; not provided; Distal myopathy with posterior leg and anterior han
- D16Y (p.Asp16Tyr), rs1807849615, ClinGen CA369215494, ClinVar RCV001045869, Ensembl rs1807849615, REVEL 0.15, CADD 23.80, Uncertain significance, Myofibrillar myopathy 5; Dilated Cardiomyopathy, Dominant; Distal myopathy with
- D16D (p.Asp16Asp), gnomAD 7-128830685-T-C, CADD 10.70
- D16E (p.Asp16Glu), gnomAD 7-128830685-T-A, REVEL 0.06, CADD 12.50
- E17D (p.Glu17Asp), ExAC rs753490528, TOPMed rs753490528, gnomAD rs753490528, REVEL 0.08, CADD 17.50, Likely benign
- E17K (p.Glu17Lys), rs1807849793, ClinGen CA369215505, ClinVar RCV003455701, ClinVar RCV006624439, REVEL 0.16, CADD 22.30, Uncertain significance, Myofibrillar myopathy 5; Hypertrophic cardiomyopathy 26; not provided
- E17E (p.Glu17Glu), rs753490528, gnomAD 7-128830688-G-A, CADD 9.98
- D19A (p.Asp19Ala), TOPMed rs1807849997, REVEL 0.10, CADD 22.70
- D19E (p.Asp19Glu), ExAC rs754468596, gnomAD rs754468596, REVEL 0.17, CADD 17.80, Likely benign
- D19N (p.Asp19Asn), NCI-TCGA Cosmic COSV5796, cosmic curated COSV57965, Variant assessed as somatic; moderate impact.
- E20A (p.Glu20Ala), rs1478918808, ClinGen CA369215548, ClinVar RCV005831626, ClinVar RCV006606671, REVEL 0.22, CADD 25.10, Uncertain significance, Distal myopathy with posterior leg and anterior hand involvement; Myofibrillar m
- E20K (p.Glu20Lys), gnomAD 7-128830695-G-A, REVEL 0.24, CADD 26.10
- E20E (p.Glu20Glu), gnomAD 7-128830697-G-A, CADD 12.60
- M21I (p.Met21Ile), gnomAD rs1394210187, REVEL 0.18, CADD 24.10
- M21L (p.Met21Leu), TOPMed rs1174042673, gnomAD rs1174042673, Uncertain significance, Hypertrophic cardiomyopathy 26; Myofibrillar myopathy 5; Distal myopathy with po
- M21R (p.Met21Arg), Ensembl rs558567091
- M21V (p.Met21Val), rs1174042673, ClinGen CA369215556, ClinVar RCV003365369, ClinVar RCV006609182, REVEL 0.22, CADD 23.80, Conflicting interpretations, not provided; Hypertrophic cardiomyopathy 26; Distal myopathy with posterior leg
- P22L (p.Pro22Leu), rs908757095, ClinGen CA369215579, ClinVar RCV006611919, TOPMed rs908757095, AlphaMissense 0.77, MetaLR 0.36, Uncertain significance, Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand in
- P22Q (p.Pro22Gln), TOPMed rs908757095, gnomAD rs908757095, Uncertain significance
- P22R (p.Pro22Arg), rs908757095, ClinGen CA369215577, ClinVar RCV006611914, AlphaMissense 0.77, MetaLR 0.36, Uncertain significance, Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand in
- P22S (p.Pro22Ser), rs368812043, ClinGen CA4473958, ClinVar RCV003344073, ClinVar RCV004777893, REVEL 0.32, CADD 27.30, Conflicting interpretations, Cardiovascular phenotype; Hypertrophic cardiomyopathy 26; Myofibrillar myopathy
- P22T (p.Pro22Thr), ESP rs368812043, ExAC rs368812043, TOPMed rs368812043, gnomAD rs368812043, REVEL 0.35, CADD 26.70, Likely benign
- S23F (p.Ser23Phe), NCI-TCGA TCGA novel, TOPMed rs1807851030, gnomAD rs1807851030, REVEL 0.16, CADD 24.90, Variant assessed as somatic; moderate impact.
- S23T (p.Ser23Thr), Ensembl rs2128932107
- S23C (p.Ser23Cys), gnomAD 7-128830705-C-G, REVEL 0.11, CADD 24.90
- S23S (p.Ser23Ser), rs1387287743, gnomAD 7-128830706-C-T, CADD 14.80
- T24K (p.Thr24Lys), rs1251048006, ClinGen CA369215598, ClinVar RCV005208160, ClinVar RCV006608561, AlphaMissense 0.65, MetaLR 0.27, Uncertain significance, Hypertrophic cardiomyopathy 26; Myofibrillar myopathy 5; Distal myopathy with po
- T24M (p.Thr24Met), cosmic curated COSV57959, TOPMed rs1251048006, gnomAD rs1251048006, Uncertain significance, Cardiovascular phenotype
- T24P (p.Thr24Pro), rs2536604955, ClinGen CA369215592, ClinVar RCV003404225, REVEL 0.20, CADD 23.40, Uncertain significance, FLNC-related disorder
- T24R (p.Thr24Arg), rs1251048006, ClinGen CA369215600, ClinVar RCV004511078, TOPMed rs1251048006, REVEL 0.20, AlphaMissense 0.65, Uncertain significance, Cardiovascular phenotype
- T24A (p.Thr24Ala), gnomAD 7-128830707-A-G, REVEL 0.12, CADD 22.90
- T24T (p.Thr24Thr), rs1023054732, gnomAD 7-128830709-G-A, CADD 7.89
- E25del (p.Glu25del), gnomAD 7-128830708-CGGA-, CADD 22.70
- K26E (p.Lys26Glu), rs1562988843, ClinGen CA369215620, ClinVar RCV000689852, ClinVar RCV003163138, REVEL 0.30, CADD 32.00, Uncertain significance, not provided; Distal myopathy with posterior leg and anterior hand involvement
- K26T (p.Lys26Thr), rs2128932111, ClinGen CA369215623, ClinVar RCV006610523, Ensembl rs2128932111, AlphaMissense 0.93, MetaLR 0.32, Uncertain significance, Myofibrillar myopathy 5; not provided; Distal myopathy with posterior leg and an
- K26K (p.Lys26Lys), gnomAD 7-128830715-G-A, CADD 15.10
- D27E (p.Asp27Glu), rs1318316375, ClinGen CA369215644, ClinVar RCV002429700, ClinVar RCV002482067, REVEL 0.12, CADD 23.90, Conflicting interpretations, Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic c
- L28L (p.Leu28Leu), rs372154508, gnomAD 7-128830721-G-A, CADD 12.00
- A29E (p.Ala29Glu), rs2128932114, ClinGen CA369215662, ClinVar RCV003991929, AlphaMissense 0.91, MetaLR 0.38, Likely pathogenic, Hypertrophic cardiomyopathy 26
- A29V (p.Ala29Val), rs2128932114, ClinGen CA369215665, ClinVar RCV006610084, NCI-TCGA TCGA novel, AlphaMissense 0.91, MetaLR 0.38, Uncertain significance, Myofibrillar myopathy 5; not provided; Distal myopathy with posterior leg and an
- A29S (p.Ala29Ser), gnomAD 7-128830722-G-T, REVEL 0.29, CADD 31.00
- A29A (p.Ala29Ala), gnomAD 7-128830724-G-C, CADD 10.30
- E30K (p.Glu30Lys), rs2128932116, ClinGen CA369215666, ClinVar RCV005001266, ClinVar RCV006611033, AlphaMissense 0.87, MetaLR 0.40, Uncertain significance, not provided; Hypertrophic cardiomyopathy 26; Myofibrillar myopathy 5
- D31E (p.Asp31Glu), Ensembl rs2128932117, Uncertain significance, Cardiovascular phenotype
- D31N (p.Asp31Asn), rs2536605019, ClinGen CA369215680, ClinVar RCV003301926, REVEL 0.48, CADD 32.00, Uncertain significance, Cardiovascular phenotype
- D31V (p.Asp31Val), rs2536605023, ClinGen CA369215689, ClinVar RCV006624347, Uncertain significance, not provided; Myofibrillar myopathy 5; Distal myopathy with posterior leg and an
- A32S (p.Ala32Ser), NCI-TCGA Cosmic COSV1003, cosmic curated COSV10036, Variant assessed as somatic; moderate impact.
- A32V (p.Ala32Val), rs2128932120, ClinGen CA369215705, NCI-TCGA Cosmic COSV1003, cosmic curated COSV10036, AlphaMissense 0.94, MetaLR 0.45, Uncertain significance, Distal myopathy with posterior leg and anterior hand involvement; not provided
- A32A (p.Ala32Ala), rs368239688, gnomAD 7-128830733-G-A, CADD 14.70
- P33S (p.Pro33Ser), TOPMed rs1562988859, gnomAD rs1562988859, REVEL 0.35, CADD 28.60, Uncertain significance, not provided; Distal myopathy with posterior leg and anterior hand involvement
- P33P (p.Pro33Pro), rs1304663973, gnomAD 7-128830736-G-A, CADD 14.70
- W34* (p.Trp34Ter), rs2128932126, ClinGen CA369215734, ClinVar RCV004998977, ClinVar RCV006610506, CADD 42.00, Pathogenic
- W34G (p.Trp34Gly), rs2536605043, ClinGen CA369215724, ClinVar RCV006611806, Uncertain significance, Hypertrophic cardiomyopathy 26; Distal myopathy with posterior leg and anterior
- K35R (p.Lys35Arg), gnomAD 7-128830741-A-G, REVEL 0.29, MetaLR 0.40
- I37S (p.Ile37Ser), rs2536605080, ClinGen CA369215786, ClinVar RCV006611781, Uncertain significance, not provided; Myofibrillar myopathy 5; Distal myopathy with posterior leg and an
- I37V (p.Ile37Val), rs2536605068, ClinGen CA369215776, ClinVar RCV006611090, Uncertain significance, Myofibrillar myopathy 5; not provided; Distal myopathy with posterior leg and an
- I37F (p.Ile37Phe), gnomAD 7-128830746-A-T, REVEL 0.51, MetaLR 0.41
- I37I (p.Ile37Ile), rs1585147703, gnomAD 7-128830748-C-A, CADD 15.40
- Q38L (p.Gln38Leu), rs1585147708, ClinGen CA369215803, ClinVar RCV000987971, ClinVar RCV003307789, AlphaMissense 0.97, MetaLR 0.60, Uncertain significance, Cardiovascular phenotype; Myofibrillar myopathy 5
- Q38Q (p.Gln38Gln), gnomAD 7-128830751-G-A, CADD 14.30
- Q39* (p.Gln39Ter), Ensembl rs2128932131
- Q39E (p.Gln39Glu), Ensembl rs2128932131
- N40D (p.Asn40Asp), gnomAD rs1807852608, REVEL 0.40, CADD 28.90
- N40K (p.Asn40Lys), Ensembl rs2128932134
- T41I (p.Thr41Ile), rs2536605111, ClinGen CA369215866, ClinVar RCV003109949, ClinVar RCV006612834, Uncertain significance, Hypertrophic cardiomyopathy 26; Myofibrillar myopathy 5; Distal myopathy with po
- F42C (p.Phe42Cys), rs777706683, ClinGen CA369215877, ClinVar RCV002307617, ClinVar RCV002424820, REVEL 0.89, CADD 32.00, Uncertain significance, Cardiovascular phenotype; not provided; Distal myopathy with posterior leg and a
- F42S (p.Phe42Ser), rs777706683, ClinGen CA4473961, ClinVar RCV005632574, ClinVar RCV006342438, REVEL 0.89, CADD 33.00, Uncertain significance, Cardiovascular phenotype; not provided; Distal myopathy with posterior leg and a
- F42F (p.Phe42Phe), rs746857110, gnomAD 7-128830763-C-T, CADD 16.10
- T43P (p.Thr43Pro), rs1807852947, ClinGen CA369215892, ClinVar RCV006608374, Ensembl rs1807852947, AlphaMissense 0.95, MetaLR 0.93, Uncertain significance, Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand in
- T43R (p.Thr43Arg), gnomAD rs1262087669, REVEL 0.90, CADD 29.10
- T43K (p.Thr43Lys), gnomAD 7-128830765-C-A, REVEL 0.88, MetaLR 0.92
- T43T (p.Thr43Thr), gnomAD 7-128830766-G-T, CADD 13.70
- R44C (p.Arg44Cys), rs2128932137, ClinGen CA369215915, ClinVar RCV006609153, Ensembl rs2128932137, REVEL 0.53, CADD 32.00, Uncertain significance, Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand in
- R44H (p.Arg44His), cosmic curated COSV57950, Ensembl rs1807853136, Uncertain significance
- R44L (p.Arg44Leu), rs1807853136, ClinGen CA369215922, ClinVar RCV006608218, Ensembl rs1807853136, AlphaMissense 0.90, MetaLR 0.51, Uncertain significance, Myofibrillar myopathy 5; Hypertrophic cardiomyopathy 26; not provided
- R44P (p.Arg44Pro), rs1807853136, ClinGen CA369215919, ClinVar RCV006611097, AlphaMissense 0.90, MetaLR 0.51, Uncertain significance, Distal myopathy with posterior leg and anterior hand involvement; Myofibrillar m
- R44R (p.Arg44Arg), gnomAD 7-128830769-C-T, CADD 15.00
- W45R (p.Trp45Arg), rs2536605179, ClinGen CA369215926, ClinVar RCV006611132, Uncertain significance, Myofibrillar myopathy 5; not provided; Distal myopathy with posterior leg and an
- C46Y (p.Cys46Tyr), Ensembl rs2128932140
- C46P (p.Cys46Pro), gnomAD 7-128830772-GTGCA, CADD 33.00
- N47D (p.Asn47Asp), rs2536605187, ClinGen CA369215972, ClinVar RCV006621084, Uncertain significance, Hypertrophic cardiomyopathy 26; Myofibrillar myopathy 5; Distal myopathy with po
- N47S (p.Asn47Ser), rs770861991, ClinGen CA4473963, ClinVar RCV001731932, ClinVar RCV002388463, REVEL 0.65, CADD 25.90, Conflicting interpretations, Myofibrillar myopathy 5; Hypertrophic cardiomyopathy 26; Distal myopathy with po
- N47N (p.Asn47Asn), rs1331955110, gnomAD 7-128830778-T-C, CADD 11.00
- E48K (p.Glu48Lys), rs1258983653, NCI-TCGA Cosmic COSV5796, cosmic curated COSV57965, gnomAD rs1258983653, REVEL 0.81, CADD 29.50, Variant assessed as somatic; moderate impact.
- H49Y (p.His49Tyr), cosmic curated COSV57949, gnomAD rs1469767984, REVEL 0.52, CADD 23.80
- H49H (p.His49His), rs3734972, gnomAD 7-128830784-C-T, CADD 7.56
- L50F (p.Leu50Phe), NCI-TCGA TCGA novel, Ensembl rs2128932147, REVEL 0.82, AlphaMissense 0.93, Uncertain significance, not provided; Distal myopathy with posterior leg and anterior hand involvement
- L50V (p.Leu50Val), rs2128932147, ClinGen CA369216048, ClinVar RCV006624371, AlphaMissense 0.93, MetaLR 0.73, Uncertain significance, Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic c
- L50L (p.Leu50Leu), rs746124763, gnomAD 7-128830787-C-G, CADD 12.50
- K51R (p.Lys51Arg), rs1807854319, ClinGen CA369216075, ClinVar RCV002404879, ClinVar RCV006609196, REVEL 0.42, CADD 22.90, Uncertain significance, Distal myopathy with posterior leg and anterior hand involvement; Myofibrillar m
- K51Q (p.Lys51Gln), gnomAD 7-128830788-A-C, REVEL 0.61, MetaLR 0.83
- C52R (p.Cys52Arg), TOPMed rs1807854499, Uncertain significance, Hypertrophic cardiomyopathy 26; Myofibrillar myopathy 5; Distal myopathy with po
- C52W (p.Cys52Trp), gnomAD 7-128830793-C-G, REVEL 0.21, MetaLR 0.14
- V53A (p.Val53Ala), NCI-TCGA Cosmic COSV5796, cosmic curated COSV57963, Variant assessed as somatic; moderate impact.
- V53L (p.Val53Leu), rs1452307781, ClinGen CA369216122, ClinVar RCV006624592, TOPMed rs1452307781, REVEL 0.26, CADD 23.10, Uncertain significance, Hypertrophic cardiomyopathy 26; Myofibrillar myopathy 5; Distal myopathy with po
- V53M (p.Val53Met), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- G54D (p.Gly54Asp), rs1032152678, ClinGen CA166207044, ClinVar RCV002393619, ClinVar RCV006608588, REVEL 0.10, CADD 24.30, Uncertain significance, Cardiovascular phenotype; Myofibrillar myopathy 5; Distal myopathy with posterio
- G54V (p.Gly54Val), rs1032152678, ClinGen CA369216153, ClinVar RCV006608476, TOPMed rs1032152678, REVEL 0.24, CADD 24.60, Uncertain significance, Myofibrillar myopathy 5; Hypertrophic cardiomyopathy 26; Distal myopathy with po
- G54G (p.Gly54Gly), rs1365748873, gnomAD 7-128830799-C-T, CADD 16.30
- K55Q (p.Lys55Gln), rs769870285, ClinGen CA4473965, ClinVar RCV004044266, ClinVar RCV006610737, REVEL 0.23, CADD 25.10, Uncertain significance, Cardiovascular phenotype; Myofibrillar myopathy 5; Distal myopathy with posterio
- R56G (p.Arg56Gly), rs2536605259, ClinGen CA369216171, ClinVar RCV002403969, REVEL 0.14, CADD 24.20, Uncertain significance, Cardiovascular phenotype
- R56H (p.Arg56His), ExAC rs775484934, gnomAD rs775484934
- R56L (p.Arg56Leu), ExAC rs775484934, gnomAD rs775484934, REVEL 0.20, CADD 26.00
- R56C (p.Arg56Cys), gnomAD 7-128830803-C-T, REVEL 0.39, MetaLR 0.35
- R56R (p.Arg56Arg), gnomAD 7-128830805-C-T, CADD 15.90
- L57P (p.Leu57Pro), rs1585147774, ClinGen CA369216183, ClinVar RCV006606873, Ensembl rs1585147774, AlphaMissense 0.90, MetaLR 0.79, Uncertain significance, Distal myopathy with posterior leg and anterior hand involvement; Myofibrillar m
- T58A (p.Thr58Ala), rs956092685, ClinGen CA166207071, ClinVar RCV003487831, TOPMed rs956092685, AlphaMissense 0.06, MetaLR 0.06, Uncertain significance, not provided
- T58I (p.Thr58Ile), cosmic curated COSV10036, gnomAD rs1382825798, REVEL 0.07, CADD 19.50
- T58T (p.Thr58Thr), rs763488290, gnomAD 7-128830811-C-A, CADD 13.80
- D59A (p.Asp59Ala), TOPMed rs1164296903, gnomAD rs1164296903, Uncertain significance
- D59E (p.Asp59Glu), gnomAD rs1807855676, REVEL 0.43, CADD 24.60
- D59G (p.Asp59Gly), rs1164296903, ClinGen CA369216209, ClinVar RCV001566083, ClinVar RCV004993955, REVEL 0.48, CADD 26.30, Uncertain significance, Distal myopathy with posterior leg and anterior hand involvement; Myofibrillar m
- D59N (p.Asp59Asn), NCI-TCGA Cosmic COSV1003, cosmic curated COSV10036, Variant assessed as somatic; moderate impact.
- D59H (p.Asp59His), gnomAD 7-128830812-G-C, REVEL 0.51, MetaLR 0.46
- D59Y (p.Asp59Tyr), gnomAD 7-128830812-G-T, REVEL 0.71, MetaLR 0.56
- D59D (p.Asp59Asp), gnomAD 7-128830814-C-T, CADD 14.40
- L60P (p.Leu60Pro), rs1807855891, ClinGen CA369216221, ClinVar RCV003487221, ClinVar RCV006270605, AlphaMissense 0.99, MetaLR 0.71, Uncertain significance, Cardiomyopathy; not provided
- L60Q (p.Leu60Gln), rs1807855891, ClinGen CA369216220, ClinVar RCV006608516, Ensembl rs1807855891, AlphaMissense 0.99, MetaLR 0.71, Uncertain significance, Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand in
- L60R (p.Leu60Arg), rs1807855891, ClinGen CA369216222, ClinVar RCV006611767, AlphaMissense 0.99, MetaLR 0.71, Uncertain significance, Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand in
- L60L (p.Leu60Leu), rs769115105, gnomAD 7-128830815-C-T, CADD 14.90
- Q61* (p.Gln61Ter), rs2128932161, ClinGen CA369216225, ClinVar RCV006609253, Ensembl rs2128932161, Pathogenic
- Q61H (p.Gln61His), TOPMed rs1807856193, REVEL 0.43, CADD 29.20
- Q61P (p.Gln61Pro), gnomAD rs1370767812, REVEL 0.60, CADD 31.00
- Q61R (p.Gln61Arg), gnomAD rs1370767812, REVEL 0.37, CADD 29.00
- R62H (p.Arg62His), rs1308771065, ClinGen CA369216239, ClinVar RCV002409466, ClinVar RCV004777952, REVEL 0.27, CADD 23.40, Uncertain significance, Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand in
- R62S (p.Arg62Ser), rs774688396, ClinGen CA4473969, ClinVar RCV003177291, ClinVar RCV006630908, AlphaMissense 0.42, MetaLR 0.48, Uncertain significance, Cardiovascular phenotype; Distal myopathy with posterior leg and anterior hand i
- R62P (p.Arg62Pro), gnomAD 7-128830822-G-C, REVEL 0.60, MetaLR 0.64
- D63A (p.Asp63Ala), Ensembl rs1585147827
- D63E (p.Asp63Glu), ExAC rs753437430, gnomAD rs753437430, REVEL 0.40, CADD 23.50
- D63H (p.Asp63His), ExAC rs762095259, TOPMed rs762095259, gnomAD rs762095259, REVEL 0.78, CADD 32.00, Uncertain significance
- D63Y (p.Asp63Tyr), rs762095259, ClinGen CA4473971, ClinVar RCV002415288, ClinVar RCV006620631, REVEL 0.80, CADD 32.00, Uncertain significance, Distal myopathy with posterior leg and anterior hand involvement; not provided
- L64F (p.Leu64Phe), Ensembl rs1185032714
- L64H (p.Leu64His), Ensembl rs2128932169
- L64L (p.Leu64Leu), rs1172570582, gnomAD 7-128830829-C-G, CADD 14.50
- S65G (p.Ser65Gly), rs1258459459, ClinGen CA369216265, cosmic curated COSV57949, ClinVar RCV002413148, REVEL 0.07, CADD 23.00, Uncertain significance, Distal myopathy with posterior leg and anterior hand involvement; not provided
- S65R (p.Ser65Arg), 1000Genomes rs1258459459, TOPMed rs1258459459, gnomAD rs1258459459, REVEL 0.28, CADD 27.60, Uncertain significance, Hypertrophic cardiomyopathy 26; Myofibrillar myopathy 5; Distal myopathy with po
- S65T (p.Ser65Thr), Ensembl rs2128932172
- D66A (p.Asp66Ala), rs2128932174, ClinGen CA369216284, ClinVar RCV006624596, Ensembl rs2128932174, AlphaMissense 0.97, MetaLR 0.73, Uncertain significance, Hypertrophic cardiomyopathy 26; Myofibrillar myopathy 5; Distal myopathy with po
- D66G (p.Asp66Gly), rs2128932174, ClinGen CA369216282, ClinVar RCV006611102, AlphaMissense 0.97, MetaLR 0.73, Uncertain significance, Distal myopathy with posterior leg and anterior hand involvement; Myofibrillar m
- D66Y (p.Asp66Tyr), rs1373245749, ClinGen CA369216280, ClinVar RCV001758758, ClinVar RCV002421265, REVEL 0.92, CADD 32.00, Uncertain significance, Cardiovascular phenotype; Hypertrophic cardiomyopathy 26; Distal myopathy with p
- D66E (p.Asp66Glu), gnomAD 7-128830835-C-G, REVEL 0.68, MetaLR 0.63
Public FLNC analysis runs
- FLNC analysis run — FLNC (4,379 variants) — completed 2026-08-10