FLNC, filamin C, 2318

N. diseases: 132; N. variants: 56
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387906586
rs387906586
1.000 7 128837450 missense variant T/C snv
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4
0.800 1.000 1 2011 2011
dbSNP: rs387906587
rs387906587
1.000 7 128835550 missense variant G/A snv
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4
0.800 1.000 1 2011 2011
dbSNP: rs1114167361
rs1114167361
0.827 0.160 7 128845022 missense variant C/T snv
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2011 2015
dbSNP: rs1114167361
rs1114167361
0.827 0.160 7 128845022 missense variant C/T snv
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
0.700 1.000 2 2011 2015
dbSNP: rs1114167361
rs1114167361
0.827 0.160 7 128845022 missense variant C/T snv
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4
0.700 1.000 2 2011 2015
dbSNP: rs1554401581
rs1554401581
0.882 0.120 7 128855315 splice donor variant G/A snv
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
0.700 1.000 2 2016 2016
dbSNP: rs1554401581
rs1554401581
0.882 0.120 7 128855315 splice donor variant G/A snv
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4
0.700 1.000 2 2016 2016
dbSNP: rs1554401581
rs1554401581
0.882 0.120 7 128855315 splice donor variant G/A snv
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2016 2016
dbSNP: rs781135153
rs781135153
0.882 0.120 7 128845989 splice acceptor variant G/C snv 1.2E-05 1.4E-05
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
0.700 1.000 2 2014 2016
dbSNP: rs781135153
rs781135153
0.882 0.120 7 128845989 splice acceptor variant G/C snv 1.2E-05 1.4E-05
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 2 2014 2016
dbSNP: rs781135153
rs781135153
0.882 0.120 7 128845989 splice acceptor variant G/C snv 1.2E-05 1.4E-05
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4
0.700 1.000 2 2014 2016
dbSNP: rs112903432
rs112903432
0.882 0.120 7 128842700 splice donor variant T/C;G snv
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4
0.700 1.000 1 2016 2016
dbSNP: rs112903432
rs112903432
0.882 0.120 7 128842700 splice donor variant T/C;G snv
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
0.700 1.000 1 2016 2016
dbSNP: rs112903432
rs112903432
0.882 0.120 7 128842700 splice donor variant T/C;G snv
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1382734231
rs1382734231
1.000 0.040 7 128854578 missense variant C/A;T snv 7.0E-06
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy
Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1446694237
rs1446694237
0.882 0.120 7 128841511 stop gained G/A;T snv 8.0E-06 7.0E-06
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1446694237
rs1446694237
0.882 0.120 7 128841511 stop gained G/A;T snv 8.0E-06 7.0E-06
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4
0.700 1.000 1 2016 2016
dbSNP: rs1446694237
rs1446694237
0.882 0.120 7 128841511 stop gained G/A;T snv 8.0E-06 7.0E-06
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
0.700 1.000 1 2016 2016
dbSNP: rs1554399513
rs1554399513
0.882 0.120 7 128846129 frameshift variant -/TACC delins
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4
0.700 1.000 1 2016 2016
dbSNP: rs1554399513
rs1554399513
0.882 0.120 7 128846129 frameshift variant -/TACC delins
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
0.700 1.000 1 2016 2016
dbSNP: rs1554399513
rs1554399513
0.882 0.120 7 128846129 frameshift variant -/TACC delins
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1554400021
rs1554400021
0.882 0.120 7 128848693 frameshift variant G/- delins
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4
0.700 1.000 1 2016 2016
dbSNP: rs1554400021
rs1554400021
0.882 0.120 7 128848693 frameshift variant G/- delins
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1554400021
rs1554400021
0.882 0.120 7 128848693 frameshift variant G/- delins
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
0.700 1.000 1 2016 2016
dbSNP: rs1562991776
rs1562991776
0.882 0.120 7 128837258 splice donor variant G/A snv
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2016 2016