GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
TSHR D36Hinsufficiently evaluated pathogenic, f=0.006unknown

(27 web hits)

TSHR C41Sinsufficiently evaluated pathogenic, f=0.000unknown

(34 web hits)

TSHR P52Tinsufficiently evaluated not reviewed, f=0.046unknown

Two individuals homozygous for TSHR-P52T have normal thyroid function. This allele is likely benign.

CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
TSHR R109Qinsufficiently evaluated pathogenic, f=0.000unknown

(20 web hits)

TSHR P162Ainsufficiently evaluated pathogenic, f=0.000unknown

(58 web hits)

var-GS18537-1100-36-ASM
TSHR I167Ninsufficiently evaluated pathogenicunknown

(20 web hits)

TSHR K183Rinsufficiently evaluated pathogenicunknown

(37 web hits)

TSHR R248Sinsufficiently evaluated noneunknown

(5 web hits)

hu728FFF build 36 substitution variants
TSHR R269Sinsufficiently evaluated noneunknown

(5 web hits)

hu728FFF build 36 substitution variants
TSHR S281Iinsufficiently evaluated pathogenicunknown

(18 web hits)

TSHR S281Ninsufficiently evaluated pathogenicunknown

(101 web hits)

TSHR R310Cinsufficiently evaluated pathogenicunknown

(23 web hits)

TSHR Q324Xinsufficiently evaluated pathogenicunknown

(8 web hits)

TSHR C390Winsufficiently evaluated pathogenicunknown

(20 web hits)

TSHR D410Ninsufficiently evaluated pathogenicunknown

(17 web hits)

TSHR L429Pinsufficiently evaluated not reviewedunknown

(2 web hits)

TSHR G431Sinsufficiently evaluated pathogenicunknown

(21 web hits)

TSHR M453Tinsufficiently evaluated pathogenicunknown

(89 web hits)

TSHR L467Pinsufficiently evaluated pathogenicunknown

(24 web hits)

TSHR I470Vinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
TSHR T477Iinsufficiently evaluated pathogenicunknown

(35 web hits)

TSHR S505Ninsufficiently evaluated pathogenicunknown

(43 web hits)

TSHR V509Ainsufficiently evaluated pathogenicunknown

(79 web hits)

TSHR F525Linsufficiently evaluated pathogenicunknown

(10 web hits)

TSHR R534Cinsufficiently evaluated not reviewed, f=0.002unknown var-GS19025-1100-36-ASM
var-GS19020-1100-36-ASM
TSHR W546Xinsufficiently evaluated pathogenic, f=0.000unknown

(63 web hits)

TSHR A553Tinsufficiently evaluated pathogenicunknown

(17 web hits)

TSHR T574Sinsufficiently evaluated not reviewed, f=0.002unknown var-GS18502-1100-36-ASM
TSHR C600Rinsufficiently evaluated pathogenicunknown

(30 web hits)

TSHR D619Ginsufficiently evaluated pathogenicunknown

(39 web hits)

TSHR A623Iinsufficiently evaluated pathogenicunknown

(71 web hits)

TSHR L629Finsufficiently evaluated pathogenicunknown

(76 web hits)

TSHR F631Linsufficiently evaluated pathogenicunknown

(58 web hits)

TSHR D633Hinsufficiently evaluated pathogenicunknown

(38 web hits)

TSHR P639Sinsufficiently evaluated pathogenicunknown

(27 web hits)

TSHR C672Yinsufficiently evaluated pathogenicunknown

(21 web hits)

TSHR G697Dinsufficiently evaluated not reviewedunknown
TSHR V721Finsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
TSHR E727Dinsufficiently evaluated none, f=0.920unknown

(2 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)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM
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)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM (hom)
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)
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
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)
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 GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
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 (hom)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM
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 (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_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
TSHR N744Kinsufficiently evaluated not reviewed, f=0.020unknown var-GS19701-1100-36-ASM
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Total results: 40

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