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: rs573899913
rs573899913 		7 128850448 missense variant T/G snv 9.2E-05 2.1E-05
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: rs1554398705
rs1554398705 		7 128842906 frameshift variant -/C delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs1563005360
rs1563005360 		0.807 0.120 7 128857103 splice acceptor variant ACCTCTGGCCCCCAGGTGTGTCATCAGAGTTCATCGTGAACACCCTGAATGCCGGCTCGGGGGCCTTGTCTGTCACCATTGATGGCCCCTC/GAGG delins
CUI: C1578482
Disease: Valgus deformities of feet
Valgus deformities of feet 		Musculoskeletal Diseases 0.700 0
dbSNP: rs1563005360
rs1563005360 		0.807 0.120 7 128857103 splice acceptor variant ACCTCTGGCCCCCAGGTGTGTCATCAGAGTTCATCGTGAACACCCTGAATGCCGGCTCGGGGGCCTTGTCTGTCACCATTGATGGCCCCTC/GAGG delins
CUI: C4021264
Disease: Abnormal ventricular septum morphology
Abnormal ventricular septum morphology 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1563005360
rs1563005360 		0.807 0.120 7 128857103 splice acceptor variant ACCTCTGGCCCCCAGGTGTGTCATCAGAGTTCATCGTGAACACCCTGAATGCCGGCTCGGGGGCCTTGTCTGTCACCATTGATGGCCCCTC/GAGG delins
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1563005360
rs1563005360 		0.807 0.120 7 128857103 splice acceptor variant ACCTCTGGCCCCCAGGTGTGTCATCAGAGTTCATCGTGAACACCCTGAATGCCGGCTCGGGGGCCTTGTCTGTCACCATTGATGGCCCCTC/GAGG delins
CUI: C4531288
Disease: Abnormal morphology of left ventricular trabeculae
Abnormal morphology of left ventricular trabeculae 		0.700 0
dbSNP: rs1563005360
rs1563005360 		0.807 0.120 7 128857103 splice acceptor variant ACCTCTGGCCCCCAGGTGTGTCATCAGAGTTCATCGTGAACACCCTGAATGCCGGCTCGGGGGCCTTGTCTGTCACCATTGATGGCCCCTC/GAGG delins
CUI: C4021866
Disease: obsolete Abnormal heart morphology
obsolete Abnormal heart morphology 		0.700 0
dbSNP: rs1563005360
rs1563005360 		0.807 0.120 7 128857103 splice acceptor variant ACCTCTGGCCCCCAGGTGTGTCATCAGAGTTCATCGTGAACACCCTGAATGCCGGCTCGGGGGCCTTGTCTGTCACCATTGATGGCCCCTC/GAGG delins
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1563005360
rs1563005360 		0.807 0.120 7 128857103 splice acceptor variant ACCTCTGGCCCCCAGGTGTGTCATCAGAGTTCATCGTGAACACCCTGAATGCCGGCTCGGGGGCCTTGTCTGTCACCATTGATGGCCCCTC/GAGG delins
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1563005360
rs1563005360 		0.807 0.120 7 128857103 splice acceptor variant ACCTCTGGCCCCCAGGTGTGTCATCAGAGTTCATCGTGAACACCCTGAATGCCGGCTCGGGGGCCTTGTCTGTCACCATTGATGGCCCCTC/GAGG delins
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.700 0
dbSNP: rs1563005360
rs1563005360 		0.807 0.120 7 128857103 splice acceptor variant ACCTCTGGCCCCCAGGTGTGTCATCAGAGTTCATCGTGAACACCCTGAATGCCGGCTCGGGGGCCTTGTCTGTCACCATTGATGGCCCCTC/GAGG delins
CUI: C0149630
Disease: Bicuspid aortic valve
Bicuspid aortic valve 		Cardiovascular Diseases 0.700 0
dbSNP: rs1563005360
rs1563005360 		0.807 0.120 7 128857103 splice acceptor variant ACCTCTGGCCCCCAGGTGTGTCATCAGAGTTCATCGTGAACACCCTGAATGCCGGCTCGGGGGCCTTGTCTGTCACCATTGATGGCCCCTC/GAGG delins
CUI: C1858033
Disease: Asymmetry of the thorax
Asymmetry of the thorax 		0.700 0
dbSNP: rs1563005360
rs1563005360 		0.807 0.120 7 128857103 splice acceptor variant ACCTCTGGCCCCCAGGTGTGTCATCAGAGTTCATCGTGAACACCCTGAATGCCGGCTCGGGGGCCTTGTCTGTCACCATTGATGGCCCCTC/GAGG delins
CUI: C4476982
Disease: Two-raphe bicuspid aortic valve
Two-raphe bicuspid aortic valve 		Cardiovascular Diseases 0.700 0
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
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
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: 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: rs1554401581
rs1554401581 		0.882 0.120 7 128855315 splice donor variant G/A snv
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
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
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
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