GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
GJB4 G12Dinsufficiently evaluated pathogenicunknown

(43 web hits)

GJB4 R22Hinsufficiently evaluated pathogenicunknown

(15 web hits)

GJB4 V37Minsufficiently evaluated pathogenic, f=0.000dominant

This variant was found in two unrelated individuals from Taiwan with nonsyndromic deafness but does not have enough evidence to be significant.

GJB4 F51Shiftinsufficiently evaluated not reviewed, f=0.023unknown var-GS18504-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS19238-1100-36-ASM
GJB4 V52Shiftinsufficiently evaluated not reviewed, f=0.016unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS19648-1100-36-ASM
CGI sample GS01173-DNA_B02 from PGP sample 94378523
GJB4 F69Linsufficiently evaluated not reviewed, f=0.004unknown var-GS19700-1100-36-ASM
GJB4 Q80Xinsufficiently evaluated not reviewed, f=0.011unknown var-GS19701-1100-36-ASM
GJB4 T85Pinsufficiently evaluated pathogenicunknown

(15 web hits)

GJB4 R103Cinsufficiently evaluated not reviewed, f=0.020unknown hu34D5B9 exome
var-GS19670-1100-36-ASM
GJB4 W128Xinsufficiently evaluated not reviewed, f=0.002unknown

(4 web hits)

CGI sample GS00253-DNA_B02_200_37
GJB4 F137Linsufficiently evaluated pathogenicunknown

(36 web hits)

GJB4 R151Sinsufficiently evaluated none, f=0.032unknown var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19701-1100-36-ASM (hom)
var-GS19834-1100-36-ASM
var-GS18537-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
var-GS18517-1100-36-ASM
GJB4 C169Winsufficiently evaluated not reviewed, f=0.028unknown var-GS18942-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS12004-1100-36-ASM
var-GS18526-1100-36-ASM
GJB4 T181Minsufficiently evaluated not reviewed, f=0.000unknown hu34D5B9 exome
CGI sample GS00253-DNA_D01_200_37
GJB4 F189Yinsufficiently evaluated pathogenicunknown

(15 web hits)

GJB4 E204Ainsufficiently evaluated none, f=0.068unknown

(8 web hits)

var-GS19025-1100-36-ASM
hu3215A7 build 36 substitution variants
var-GS21767-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS19669-1100-36-ASM
var-GS18940-1100-36-ASM
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Total results: 16

Gene search

"GENE" or "GENE A123C":

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