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: rs1064795229
rs1064795229 		0.882 0.120 7 128844254 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: rs1064795229
rs1064795229 		0.882 0.120 7 128844254 frameshift variant T/- del
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4 		0.700 0
dbSNP: rs1064795229
rs1064795229 		0.882 0.120 7 128844254 frameshift variant T/- del
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		0.700 0
dbSNP: rs1131692185
rs1131692185 		0.882 0.040 7 128845012 missense variant GC/CT mnv
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		0.700 0
dbSNP: rs121909518
rs121909518 		0.882 0.120 7 128858475 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: rs1402879259
rs1402879259 		0.882 0.120 7 128848974 splice donor variant -/ACGTCACA delins 4.1E-06 1.4E-05
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		0.700 0
dbSNP: rs1402879259
rs1402879259 		0.882 0.120 7 128848974 splice donor variant -/ACGTCACA delins 4.1E-06 1.4E-05
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4 		0.700 0
dbSNP: rs1402879259
rs1402879259 		0.882 0.120 7 128848974 splice donor variant -/ACGTCACA delins 4.1E-06 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 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: 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: 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: rs1554398674
rs1554398674 		0.882 0.120 7 128842782 splice acceptor variant TTCTCTGCAGGCGACGTGAGCATCGGC/- 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: rs1554398674
rs1554398674 		0.882 0.120 7 128842782 splice acceptor variant TTCTCTGCAGGCGACGTGAGCATCGGC/- delins
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4 		0.700 0
dbSNP: rs1554398674
rs1554398674 		0.882 0.120 7 128842782 splice acceptor variant TTCTCTGCAGGCGACGTGAGCATCGGC/- delins
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		0.700 0
dbSNP: rs1554398705
rs1554398705 		7 128842906 frameshift variant -/C delins
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs1554400242
rs1554400242 		0.882 0.120 7 128849540 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 0
dbSNP: rs1554400242
rs1554400242 		0.882 0.120 7 128849540 frameshift variant G/- delins
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		0.700 0
dbSNP: rs1554400242
rs1554400242 		0.882 0.120 7 128849540 frameshift variant G/- delins
CUI: C3279722
Disease: MYOPATHY, DISTAL, 4
MYOPATHY, DISTAL, 4 		0.700 0
dbSNP: rs1554400700
rs1554400700 		0.882 0.120 7 128851482 frameshift variant -/A 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