GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
GJB2 G12Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS19649-1100-36-ASM
GJB2 G12Rinsufficiently evaluated pathogenicunknown

(62 web hits)

GJB2 S17Finsufficiently evaluated pathogenicunknown

(43 web hits)

GJB2 W24Xinsufficiently evaluated pathogenicunknown

(342 web hits)

GJB2 V27Iuncertain benign, f=0.003unknown

Probable non-pathogenic; other variants in gene associated with hearing loss.
A few controversial mutations of uncertain or evolving clinical significance are included in this prototype.
Examples include V27I, M34T, V37I, and E114G in the GJB2 gene and IVS2-2AG in the SLC26A5 gene.
This variant is also observed both in Case and Control in the study of hearing loss.

(195 web hits)

hu34D5B9 exome
var-GS18942-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS19670-1100-36-ASM
GJB2 M34Tlikely pathogenic, f=0.010recessive

Several labs have reported in ClinVar that this causes deafness in a recessive manner: http://www.ncbi.nlm.nih.gov/clinvar/variation/17000/ This variant seems to be “mild”, with a stronger effect when combined with a more severe variant. The variant is relatively common: according to ExAC data, 1 in 40 with European ancestry (and 1 in 25 Finnish) are carriers of this variant. Löppönen et al 2012 report that homozygotes for the variant have mild to moderate hearing impairment.

(597 web hits)

var-GS19649-1100-36-ASM
GJB2 V37Ilikely pathogenic, f=0.001recessive

This recessive variant is associated with mild hearing loss in Asians.

(419 web hits)

var-GS18526-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
GJB2 W44Cinsufficiently evaluated pathogenicunknown

(98 web hits)

GJB2 W44Sinsufficiently evaluated pathogenicunknown

(28 web hits)

GJB2 G45Einsufficiently evaluated pathogenicunknown

(84 web hits)

GJB2 E47Xinsufficiently evaluated pathogenicunknown

(118 web hits)

GJB2 D50Ninsufficiently evaluated pathogenicunknown

(101 web hits)

GJB2 D50Yinsufficiently evaluated pathogenicunknown

(7 web hits)

GJB2 N54Kinsufficiently evaluated pathogenicunknown

(33 web hits)

GJB2 G59Ainsufficiently evaluated pathogenicunknown

(60 web hits)

GJB2 G59Sinsufficiently evaluated pathogenicunknown

(16 web hits)

GJB2 D66Hinsufficiently evaluated pathogenicunknown

(250 web hits)

GJB2 H73Rinsufficiently evaluated pathogenicunknown

(7 web hits)

GJB2 R75Qinsufficiently evaluated pathogenicunknown

(121 web hits)

GJB2 R75Winsufficiently evaluated pathogenicunknown

(176 web hits)

GJB2 W77Rinsufficiently evaluated pathogenicunknown

(89 web hits)

GJB2 W77Xinsufficiently evaluated pathogenic, f=0.000unknown

(91 web hits)

GJB2 F83Linsufficiently evaluated not reviewed, f=0.003unknown var-GS10851-1100-36-ASM
GJB2 V84Linsufficiently evaluated pathogenic, f=0.000unknown

(58 web hits)

GJB2 V84Minsufficiently evaluated pathogenicunknown

(19 web hits)

GJB2 L90Pinsufficiently evaluated pathogenic, f=0.000unknown

(261 web hits)

GJB2 E114Ginsufficiently evaluated not reviewed, f=0.001unknown hu34D5B9 exome
var-GS18558-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS18537-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18526-1100-36-ASM
var-GS18947-1100-36-ASM
GJB2 Q124Xinsufficiently evaluated not reviewedunknown

(26 web hits)

GJB2 R127Hinsufficiently evaluated not reviewed, f=0.002unknown var-GS20509-1100-36-ASM
GJB2 S139Ninsufficiently evaluated pathogenic, f=0.000recessive

This variant is associated with hearing loss, but the evidence supporting this is weak (possibly due to variant rarity). Other mutations in this gene are associated with hearing loss.

(25 web hits)

var-GS18555-1100-36-ASM
GJB2 R143Qinsufficiently evaluated pathogenicunknown

(34 web hits)

GJB2 R143Winsufficiently evaluated pathogenic, f=0.000unknown

(253 web hits)

GJB2 V153Iinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228
GJB2 D159Vinsufficiently evaluated pathogenicunknown

(9 web hits)

GJB2 D179Ninsufficiently evaluated pathogenicunknown

(40 web hits)

GJB2 R184Pinsufficiently evaluated pathogenicunknown

(121 web hits)

GJB2 C202Finsufficiently evaluated pathogenicunknown

(86 web hits)

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Total results: 37

Gene search

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