GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
WFS1 Q14Rinsufficiently evaluated not reviewed, f=0.000unknown var-GS18558-1100-36-ASM
WFS1 P52Tinsufficiently evaluated not reviewed, f=0.000unknown

(1 web hit)

WFS1 G76Vinsufficiently evaluated not reviewed, f=0.002unknown var-GS18504-1100-36-ASM
WFS1 H109Yinsufficiently evaluated not reviewed, f=0.000unknown var-GS21767-1100-36-ASM
WFS1 A150Vinsufficiently evaluated not reviewed, f=0.000unknown

(1 web hit)

WFS1 Q226Xinsufficiently evaluated pathogenicunknown

(9 web hits)

WFS1 R285Hinsufficiently evaluated not reviewed, f=0.003unknown var-GS19703-1100-36-ASM
WFS1 V333Iinsufficiently evaluated not reviewed, f=0.800unknown

(5 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM (hom)
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
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 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
WFS1 C360Yinsufficiently evaluated not reviewed, f=0.000unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
WFS1 F417Sinsufficiently evaluated not reviewedunknown
WFS1 C426Ylikely pathogenic, f=0.001dominant

Reported in a single case of familial depression, but no linkage data and no statistical significance.

(1 web hit)

CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01669-DNA_B05 from PGP sample 86486261
WFS1 L432Vinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
WFS1 R456Huncertain benign, f=0.045unknown

Reported benign in ClinVar

(33 web hits)

CGI sample GS00253-DNA_G01_200_37
var-GS18555-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18956-1100-36-ASM
WFS1 N500Kinsufficiently evaluated not reviewedunknown
WFS1 P504Linsufficiently evaluated pathogenicunknown

(9 web hits)

WFS1 M518Iinsufficiently evaluated not reviewed, f=0.003unknown var-GS18504-1100-36-ASM
WFS1 C537Yinsufficiently evaluated not reviewed, f=0.016unknown var-GS19025-1100-36-ASM
var-GS19017-1100-36-ASM
WFS1 G576Sinsufficiently evaluated none, f=0.007unknown

(9 web hits)

var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18508-1100-36-ASM
WFS1 Q584Hinsufficiently evaluated none, f=0.008unknown var-GS19129-1100-36-ASM
WFS1 A602Vinsufficiently evaluated not reviewed, f=0.032unknown var-GS19703-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19026-1100-36-ASM
WFS1 R611Huncertain not reviewed, f=0.400recessive

This nonsynonymous SNP is associated with Wolfram Syndrome (known as DIDMOAD), which is characterized by early-onset non-autoimmune diabetes mellitus, diabetes insipidus, optic atrophy, and deafness) and to adult Type Two Diabetes Mellitus. The WFS1 gene maps to chromosome 4p16.3. The variant has been shown to be statistically associated with type II diabetes in six UK studies and one study of Ashkenazi Jews (Sandhu, M., et al., Minton et al.).

(15 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532 (hom)
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
var-GS19834-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19669-1100-36-ASM
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
WFS1 K634Tinsufficiently evaluated pathogenicunknown

(11 web hits)

WFS1 W648Xinsufficiently evaluated pathogenicunknown

(13 web hits)

WFS1 G695Vinsufficiently evaluated pathogenicunknown

(10 web hits)

WFS1 T699Minsufficiently evaluated pathogenicunknown

(22 web hits)

WFS1 A716Tinsufficiently evaluated pathogenicunknown

(42 web hits)

WFS1 I720Vinsufficiently evaluated not reviewed, f=0.000unknown var-GS18942-1100-36-ASM
WFS1 P724Linsufficiently evaluated pathogenicunknown

(30 web hits)

WFS1 E737Kinsufficiently evaluated not reviewed, f=0.000unknown var-GS18947-1100-36-ASM
WFS1 Q819Xinsufficiently evaluated pathogenicunknown

(7 web hits)

WFS1 L829Pinsufficiently evaluated pathogenicunknown

(25 web hits)

WFS1 G831Dinsufficiently evaluated pathogenic, f=0.000unknown

(19 web hits)

WFS1 I845Sinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
WFS1 R859Qinsufficiently evaluated pathogenic, f=0.000unknown

(10 web hits)

WFS1 E864Kinsufficiently evaluated pathogenicunknown

(26 web hits)

WFS1 D866Ninsufficiently evaluated none, f=0.001unknown

(4 web hits)

var-GS18942-1100-36-ASM
WFS1 V871Minsufficiently evaluated pathogenic, f=0.008recessive

This variant was identified in one individual with autosomal recessive Wolfram syndrome in a heterozygous state and in two deaf sisters with heterozygosis, the sisters’ father, however carried the variant and was asymptomatic

(7 web hits)

var-GS07357-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
WFS1 F883Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS19670-1100-36-ASM
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Total results: 38

Gene search

"GENE" or "GENE A123C":

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