GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
HSD17B4 G11Dinsufficiently evaluated not reviewed, f=0.000unknown
HSD17B4 G16Sinsufficiently evaluated pathogenic, f=0.000unknown

(9 web hits)

HSD17B4 S66Linsufficiently evaluated not reviewed, f=0.025unknown hu3215A7 build 36 substitution variants
var-GS19700-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS19238-1100-36-ASM
HSD17B4 R106Hinsufficiently evaluated none, f=0.362unknown

(1 web hit)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
var-GS18942-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18558-1100-36-ASM
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)
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 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
var-GS19670-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19669-1100-36-ASM
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
HSD17B4 R106Pinsufficiently evaluated pathogenicunknown

(5 web hits)

HSD17B4 K140Ninsufficiently evaluated none, f=0.022unknown var-GS19025-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19026-1100-36-ASM
HSD17B4 T292Sinsufficiently evaluated unknown, f=0.024unknown hu3215A7 build 36 substitution variants
var-GS19700-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS19238-1100-36-ASM
HSD17B4 N457Yinsufficiently evaluated pathogenic, f=0.000unknown

(11 web hits)

HSD17B4 W511Rinsufficiently evaluated none, f=0.154unknown

(11 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
hu3215A7 build 36 substitution variants
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM
var-GS19701-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
CGI sample GS00253-DNA_B02_200_37
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
var-GS18947-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18517-1100-36-ASM
HSD17B4 R543Cinsufficiently evaluated not reviewedunknown
HSD17B4 K557Minsufficiently evaluated noneunknown
HSD17B4 I559Vinsufficiently evaluated none, f=0.404unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
hu34D5B9 exome
hu3215A7 build 36 substitution variants
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS000005532
var-GS19703-1100-36-ASM
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 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS19129-1100-36-ASM (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS18517-1100-36-ASM
HSD17B4 R562Linsufficiently evaluated noneunknown

(1 web hit)

HSD17B4 E651Ginsufficiently evaluated not reviewedunknown
HSD17B4 T687Iinsufficiently evaluated not reviewed, f=0.000unknown var-GS18940-1100-36-ASM
HSD17B4 M728Vinsufficiently evaluated none, f=0.033unknown var-GS19025-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19026-1100-36-ASM
Page: 1 2
Total results: 16

Gene search

"GENE" or "GENE A123C":

Log in