GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
KRT5 S5Xinsufficiently evaluated pathogenicunknown

(8 web hits)

KRT5 V7Ainsufficiently evaluated pathogenicunknown

(1 web hit)

KRT5 P25Linsufficiently evaluated pathogenicunknown

(66 web hits)

KRT5 F87Vinsufficiently evaluated not reviewed, f=0.020unknown var-GS18508-1100-36-ASM
KRT5 G138Euncertain pathogenic, f=0.052undefined

This variant is associated with 1.25x increased risk of basal cell carcinoma (common skin cancer, rarely malignant).

(119 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_B07 from PGP sample 61499538
KRT5 I161Sinsufficiently evaluated pathogenicunknown

(28 web hits)

KRT5 E170Kinsufficiently evaluated pathogenicunknown

(10 web hits)

KRT5 K173Ninsufficiently evaluated pathogenicunknown

(10 web hits)

KRT5 L174Finsufficiently evaluated pathogenicunknown

(2 web hits)

KRT5 S181Pinsufficiently evaluated pathogenicunknown

(8 web hits)

KRT5 V186Linsufficiently evaluated pathogenicunknown

(17 web hits)

KRT5 Q192QQinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01669-DNA_B05 from PGP sample 86486261
KRT5 N193Kinsufficiently evaluated pathogenicunknown

(3 web hits)

KRT5 D197Einsufficiently evaluated not reviewed, f=0.075unknown

(3 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
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 GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM (hom)
var-GS19701-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS18537-1100-36-ASM
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS00253-DNA_D01_200_37
hu728FFF build 36 substitution variants (hom)
var-GS18505-1100-36-ASM
var-GS06994-1100-36-ASM (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS19669-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
KRT5 V211Minsufficiently evaluated not reviewed, f=0.011unknown var-GS19700-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19026-1100-36-ASM
KRT5 M327Tinsufficiently evaluated pathogenicunknown

(3 web hits)

KRT5 N329Kinsufficiently evaluated pathogenicunknown

(4 web hits)

KRT5 E418Kinsufficiently evaluated pathogenicunknown

(5 web hits)

KRT5 L462Pinsufficiently evaluated pathogenicunknown

(2 web hits)

KRT5 K472Xinsufficiently evaluated pathogenicunknown

(4 web hits)

KRT5 E475Ginsufficiently evaluated pathogenicunknown

(9 web hits)

KRT5 E477Xinsufficiently evaluated pathogenicunknown

(3 web hits)

KRT5 S528Ginsufficiently evaluated none, f=0.173unknown

(7 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
hu34D5B9 exome
hu3215A7 build 36 substitution variants
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS19026-1100-36-ASM (hom)
KRT5 G543Rinsufficiently evaluated not reviewedunknown
KRT5 G543Cinsufficiently evaluated not reviewedunknown
KRT5 G543Sinsufficiently evaluated none, f=0.152unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01173-DNA_F02 from PGP sample 70008981
hu34D5B9 exome
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
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Total results: 26

Gene search

"GENE" or "GENE A123C":

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