GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
FIG4 I41Tinsufficiently evaluated pathogenic, f=0.001unknown

(17 web hits)

FIG4 D53Yinsufficiently evaluated pathogenicunknown

(5 web hits)

FIG4 R183Xinsufficiently evaluated pathogenicunknown

(9 web hits)

FIG4 T270Ainsufficiently evaluated not reviewed, f=0.005unknown var-GS18504-1100-36-ASM
var-GS19704-1100-36-ASM
FIG4 K278Shiftlikely pathogenic, f=0.008recessive

This variant is predicted to cause a frameshift and may cause Charcot-Marie-Tooth Disease Type 4J in an autosomal recessive manner. Other variants in this gene which cause frameshift and premature termination have been implicated in causing this disease when compound heterozygous with another FIG4 variant.

CGI sample GS00253-DNA_A01_200_37
FIG4 M364Linsufficiently evaluated none, f=0.032unknown

(3 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS18501-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
CGI sample GS000006909
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS18947-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS18940-1100-36-ASM
FIG4 V440Ainsufficiently evaluated not reviewedunknown
FIG4 V654Ainsufficiently evaluated none, f=0.331unknown

(3 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS19025-1100-36-ASM (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM (hom)
var-GS12004-1100-36-ASM
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS18508-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18517-1100-36-ASM (hom)
FIG4 R699Hinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
Total results: 9

Gene search

"GENE" or "GENE A123C":

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