GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
LHCGR L16Qinsufficiently evaluated not reviewed, f=0.050unknown var-GS18505-1100-36-ASM
LHCGR Q18QLQinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
LHCGR A118Einsufficiently evaluated not reviewed, f=0.008unknown var-GS19670-1100-36-ASM
LHCGR R133Cinsufficiently evaluated pathogenicunknown

(1 web hit)

LHCGR V144Finsufficiently evaluated pathogenicunknown

(2 web hits)

LHCGR N291Sinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01175-DNA_D05 from PGP sample 1205491
LHCGR N312Sinsufficiently evaluated none, f=0.490unknown

(9 web hits)

CGI sample GS00253-DNA_E01_200_37 (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
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM
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
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
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-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM (hom)
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
CGI sample GS00253-DNA_F01_200_37 (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
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
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_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
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)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
LHCGR C343Sinsufficiently evaluated pathogenicunknown

(7 web hits)

LHCGR E354Kinsufficiently evaluated pathogenicunknown

(9 web hits)

LHCGR L368Pinsufficiently evaluated pathogenicunknown

(4 web hits)

LHCGR A373Vinsufficiently evaluated pathogenicunknown

(9 web hits)

LHCGR M398Tinsufficiently evaluated pathogenicunknown

(26 web hits)

LHCGR L457Rinsufficiently evaluated pathogenicunknown

(25 web hits)

LHCGR L502Pinsufficiently evaluated pathogenicunknown
LHCGR I542Linsufficiently evaluated pathogenicunknown

(10 web hits)

LHCGR C543Rinsufficiently evaluated pathogenicunknown

(8 web hits)

LHCGR C545Xinsufficiently evaluated pathogenicunknown

(6 web hits)

LHCGR Y550Hinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B05 from PGP sample 86486261
LHCGR R554Xinsufficiently evaluated pathogenicunknown

(8 web hits)

LHCGR D564Ginsufficiently evaluated pathogenicunknown

(29 web hits)

LHCGR A568Vinsufficiently evaluated pathogenicunknown

(10 web hits)

LHCGR A572Vinsufficiently evaluated pathogenicunknown

(9 web hits)

LHCGR M575Iinsufficiently evaluated pathogenicunknown
LHCGR T577Iinsufficiently evaluated pathogenicunknown

(24 web hits)

LHCGR D578Ginsufficiently evaluated pathogenicunknown

(14 web hits)

LHCGR D578Hinsufficiently evaluated pathogenicunknown

(18 web hits)

LHCGR D582Ginsufficiently evaluated pathogenicunknown

(1 web hit)

LHCGR A593Pinsufficiently evaluated pathogenicunknown

(12 web hits)

LHCGR S616Yinsufficiently evaluated pathogenicunknown

(21 web hits)

LHCGR I625Kinsufficiently evaluated pathogenicunknown

(10 web hits)

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Total results: 30

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