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: rs1554400700
rs1554400700 		0.882 0.120 7 128851482 frameshift variant -/A delins
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		0.700 0
dbSNP: rs1554400700
rs1554400700 		0.882 0.120 7 128851482 frameshift variant -/A delins
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4 		0.700 0
dbSNP: rs1554401403
rs1554401403 		1.000 0.040 7 128854577 missense variant C/T snv
CUI: C0007196
Disease: Restrictive cardiomyopathy
Restrictive cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs1554401561
rs1554401561 		1.000 0.080 7 128855243 missense variant G/C snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1554401756
rs1554401756 		0.882 0.120 7 128856560 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: rs1554401756
rs1554401756 		0.882 0.120 7 128856560 stop gained C/T snv
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4 		0.700 0
dbSNP: rs1554401756
rs1554401756 		0.882 0.120 7 128856560 stop gained C/T snv
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		0.700 0
dbSNP: rs1554401780
rs1554401780 		0.882 0.120 7 128856637 frameshift variant T/- del
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4 		0.700 0
dbSNP: rs1554401780
rs1554401780 		0.882 0.120 7 128856637 frameshift variant T/- del
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		0.700 0
dbSNP: rs1554401780
rs1554401780 		0.882 0.120 7 128856637 frameshift variant T/- del
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: rs1554401830
rs1554401830 		0.882 0.120 7 128856856 frameshift variant -/TGCT ins
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: rs1554401830
rs1554401830 		0.882 0.120 7 128856856 frameshift variant -/TGCT ins
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		0.700 0
dbSNP: rs1554401830
rs1554401830 		0.882 0.120 7 128856856 frameshift variant -/TGCT ins
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4 		0.700 0
dbSNP: rs1554401837
rs1554401837 		0.882 0.120 7 128856895 frameshift variant TCCTGGGCTCGAG/- delins
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4 		0.700 0
dbSNP: rs1554401837
rs1554401837 		0.882 0.120 7 128856895 frameshift variant TCCTGGGCTCGAG/- delins
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		0.700 0
dbSNP: rs1554401837
rs1554401837 		0.882 0.120 7 128856895 frameshift variant TCCTGGGCTCGAG/- 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: 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: rs1562995872
rs1562995872 		1.000 0.120 7 128843554 inframe deletion TCAAGTACACCG/- 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: rs1562998858
rs1562998858 		0.882 0.120 7 128847739 frameshift variant AAGG/- delins
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4 		0.700 0
dbSNP: rs1562998858
rs1562998858 		0.882 0.120 7 128847739 frameshift variant AAGG/- 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: rs1562998858
rs1562998858 		0.882 0.120 7 128847739 frameshift variant AAGG/- delins
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		0.700 0
dbSNP: rs1562999443
rs1562999443 		1.000 7 128848595 missense variant G/A snv
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		0.700 0