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: rs1562988883
rs1562988883 		0.882 0.120 7 128830784 frameshift variant C/TCT delins
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1562988883
rs1562988883 		0.882 0.120 7 128830784 frameshift variant C/TCT delins
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4 		0.700 0
dbSNP: rs1562988883
rs1562988883 		0.882 0.120 7 128830784 frameshift variant C/TCT delins
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		0.700 0
dbSNP: rs1562991002
rs1562991002 		1.000 7 128835341 missense variant T/C snv
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		0.700 0
dbSNP: rs1554397197
rs1554397197 		0.882 0.120 7 128835417 stop gained 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 0
dbSNP: rs1554397197
rs1554397197 		0.882 0.120 7 128835417 stop gained G/A snv
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4 		0.700 0
dbSNP: rs1554397197
rs1554397197 		0.882 0.120 7 128835417 stop gained G/A snv
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		0.700 0
dbSNP: rs387906587
rs387906587 		1.000 7 128835550 missense variant G/A snv
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs387906587
rs387906587 		1.000 7 128835550 missense variant G/A snv
CUI: C0751336
Disease: Distal Muscular Dystrophies
Distal Muscular Dystrophies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
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: 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
dbSNP: rs1562991776
rs1562991776 		0.882 0.120 7 128837258 splice donor variant G/A snv
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4 		0.700 1.000 1 2016 2016
dbSNP: rs1562991776
rs1562991776 		0.882 0.120 7 128837258 splice donor variant G/A snv
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		0.700 1.000 1 2016 2016
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: rs755583250
rs755583250 		0.882 0.120 7 128837503 stop gained C/T snv 4.0E-06
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		0.700 0
dbSNP: rs755583250
rs755583250 		0.882 0.120 7 128837503 stop gained C/T snv 4.0E-06
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4 		0.700 0
dbSNP: rs755583250
rs755583250 		0.882 0.120 7 128837503 stop gained C/T snv 4.0E-06
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1420159591
rs1420159591 		0.882 0.120 7 128840055 stop gained 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 0
dbSNP: rs1420159591
rs1420159591 		0.882 0.120 7 128840055 stop gained C/T snv
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4 		0.700 0
dbSNP: rs1420159591
rs1420159591 		0.882 0.120 7 128840055 stop gained C/T snv
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		0.700 0
dbSNP: rs1554398092
rs1554398092 		0.882 0.120 7 128840127 frameshift variant GGGGAGC/- delins
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1554398092
rs1554398092 		0.882 0.120 7 128840127 frameshift variant GGGGAGC/- delins
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4 		0.700 0
dbSNP: rs1554398092
rs1554398092 		0.882 0.120 7 128840127 frameshift variant GGGGAGC/- delins
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		0.700 0
dbSNP: rs763330423
rs763330423 		0.882 0.120 7 128840159 splice donor variant AAGT/- del 4.0E-06
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		0.700 0
dbSNP: rs763330423
rs763330423 		0.882 0.120 7 128840159 splice donor variant AAGT/- del 4.0E-06
CUI: C1836050
Disease: Filaminopathy, autosomal dominant
Filaminopathy, autosomal dominant 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0