FLNC, filamin C, 2318

N. diseases: 132; N. variants: 56
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 ×
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: 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: 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: 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: rs112903432
rs112903432 		0.882 0.120 7 128842700 splice donor variant T/C;G snv
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		0.700 1.000 1 2016 2016
dbSNP: rs1446694237
rs1446694237 		0.882 0.120 7 128841511 stop gained G/A;T snv 8.0E-06 7.0E-06
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		0.700 1.000 1 2016 2016
dbSNP: rs1554399513
rs1554399513 		0.882 0.120 7 128846129 frameshift variant -/TACC delins
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		0.700 1.000 1 2016 2016
dbSNP: rs1554400021
rs1554400021 		0.882 0.120 7 128848693 frameshift variant G/- delins
CUI: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		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: 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: 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: 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: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		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: 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: 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: 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: 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: 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: 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: 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: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		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: C4310749
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26 		0.700 0