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: 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: rs1563005534
rs1563005534 		1.000 0.040 7 128857244 missense variant A/G snv
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1563005607
rs1563005607 		0.882 0.120 7 128857337 splice donor variant G/A snv
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4 		0.700 1.000 1 2016 2016
dbSNP: rs1563005607
rs1563005607 		0.882 0.120 7 128857337 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: rs1563005607
rs1563005607 		0.882 0.120 7 128857337 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: rs748416758
rs748416758 		0.882 0.120 7 128854661 stop gained C/T snv 4.1E-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: rs748416758
rs748416758 		0.882 0.120 7 128854661 stop gained C/T snv 4.1E-06
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4 		0.700 1.000 1 2016 2016
dbSNP: rs748416758
rs748416758 		0.882 0.120 7 128854661 stop gained C/T snv 4.1E-06
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		0.700 1.000 1 2016 2016
dbSNP: rs749889670
rs749889670 		0.882 0.120 7 128844656 splice acceptor variant A/G snv 4.1E-06
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4 		0.700 1.000 1 2016 2016
dbSNP: rs749889670
rs749889670 		0.882 0.120 7 128844656 splice acceptor variant A/G snv 4.1E-06
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		0.700 1.000 1 2016 2016
dbSNP: rs749889670
rs749889670 		0.882 0.120 7 128844656 splice acceptor variant A/G snv 4.1E-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: rs774945928
rs774945928 		0.882 0.120 7 128849329 splice acceptor variant A/T snv 4.0E-06
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		0.700 1.000 1 2016 2016
dbSNP: rs774945928
rs774945928 		0.882 0.120 7 128849329 splice acceptor variant A/T snv 4.0E-06
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4 		0.700 1.000 1 2016 2016
dbSNP: rs774945928
rs774945928 		0.882 0.120 7 128849329 splice acceptor variant A/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 1.000 1 2016 2016
dbSNP: rs879255639
rs879255639 		0.882 0.040 7 128848926 missense variant C/T snv
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		0.700 1.000 1 2016 2016
dbSNP: rs879255640
rs879255640 		0.882 0.040 7 128853831 missense variant A/T snv
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		0.700 1.000 1 2016 2016
dbSNP: rs1114167361
rs1114167361 		0.827 0.160 7 128845022 missense variant C/T snv
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1114167361
rs1114167361 		0.827 0.160 7 128845022 missense variant C/T snv
CUI: C0270960
Disease: Congenital myopathy (disorder)
Congenital myopathy (disorder) 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1114167361
rs1114167361 		0.827 0.160 7 128845022 missense variant C/T snv
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1131692185
rs1131692185 		0.882 0.040 7 128845012 missense variant GC/CT mnv
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1131692185
rs1131692185 		0.882 0.040 7 128845012 missense variant GC/CT mnv
CUI: C1861861
Disease: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs121909518
rs121909518 		0.882 0.120 7 128858475 stop gained G/A snv
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs121909518
rs121909518 		0.882 0.120 7 128858475 stop gained G/A snv
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2009 2009
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