GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
HNF1A I27Linsufficiently evaluated pharmacogenetic, f=0.260unknown

(69 web hits)

var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome (hom)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
CGI sample GS000006909
CGI sample GS000005532
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS18526-1100-36-ASM (hom)
var-GS06994-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
HNF1A G31Dinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
HNF1A G92Dinsufficiently evaluated pathogenicunknown

(2 web hits)

HNF1A A98Vinsufficiently evaluated none, f=0.019unknown

(31 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS20502-1100-36-ASM
HNF1A P112Linsufficiently evaluated pathogenicunknown

(20 web hits)

HNF1A Y122Cinsufficiently evaluated pathogenicunknown

(6 web hits)

HNF1A R131Winsufficiently evaluated pathogenicunknown

(11 web hits)

HNF1A V133Ainsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_A01_200_37
HNF1A R272Hinsufficiently evaluated pathogenicunknown

(16 web hits)

HNF1A A276Dinsufficiently evaluated pathogenicunknown

(9 web hits)

HNF1A G319Sinsufficiently evaluated pathogenicunknown

(246 web hits)

HNF1A V380Dinsufficiently evaluated none, f=0.061unknown

(1 web hit)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18504-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18508-1100-36-ASM
HNF1A P447Linsufficiently evaluated pathogenicunknown

(26 web hits)

HNF1A S486Dinsufficiently evaluated pharmacogeneticunknown
HNF1A S487Ninsufficiently evaluated not reviewed, f=0.246unknown

(23 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome (hom)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS000006909
CGI sample GS000005532
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS19704-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18956-1100-36-ASM
HNF1A S531Tinsufficiently evaluated pathogenicunknown

(6 web hits)

HNF1A G574Sinsufficiently evaluated pathogenicunknown

(19 web hits)

HNF1A S574Ginsufficiently evaluated none, f=0.986unknown

(3 web hits)

CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants (hom)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
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 (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532 (hom)
hu232307 build 36 substitution variants (hom)
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 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-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 (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
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 (hom)
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
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-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)
HNF1A S574Sinsufficiently evaluated unknownother
HNF1A R583Qinsufficiently evaluated pathogenic, f=0.000unknown

(3 web hits)

HNF1A R583Ginsufficiently evaluated pathogenicunknown

(5 web hits)

HNF1A G606Shiftinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_B02_200_37
HNF1A T620Iinsufficiently evaluated pathogenicunknown

(2 web hits)

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Total results: 23

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