GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
RET S32Linsufficiently evaluated pathogenicunknown

(26 web hits)

RET A45Ainsufficiently evaluated pathogenicunknown

(188 web hits)

RET L56Minsufficiently evaluated not reviewed, f=0.003unknown var-GS12004-1100-36-ASM
RET P64Linsufficiently evaluated pathogenicunknown

(37 web hits)

RET R114Hinsufficiently evaluated pathogenicunknown

(32 web hits)

RET E136Xinsufficiently evaluated pathogenicunknown

(1 web hit)

RET R180Xinsufficiently evaluated pathogenicunknown
RET P198Tinsufficiently evaluated pathogenicunknown

(1 web hit)

RET R231Hinsufficiently evaluated pathogenicunknown

(30 web hits)

RET A247Dinsufficiently evaluated noneunknown

(2 web hits)

RET R313Qinsufficiently evaluated pathogenicunknown

(13 web hits)

RET R330Qinsufficiently evaluated pathogenicunknown

(3 web hits)

RET F393Linsufficiently evaluated pathogenicunknown

(11 web hits)

RET V397Minsufficiently evaluated not reviewed, f=0.008unknown var-GS18501-1100-36-ASM
RET G446Rinsufficiently evaluated not reviewed, f=0.003unknown var-GS18502-1100-36-ASM
var-GS19238-1100-36-ASM
RET D489Ninsufficiently evaluated none, f=0.000unknown

(11 web hits)

var-GS18526-1100-36-ASM
var-GS18956-1100-36-ASM
RET G533Cinsufficiently evaluated pathogenicunknown

(116 web hits)

RET C609Rinsufficiently evaluated pathogenicunknown

(18 web hits)

RET C609Yinsufficiently evaluated pathogenicunknown

(96 web hits)

RET C611Winsufficiently evaluated pathogenicunknown

(6 web hits)

RET C618Ginsufficiently evaluated pathogenicunknown

(21 web hits)

RET C618Rinsufficiently evaluated pathogenicunknown

(123 web hits)

RET C618Sinsufficiently evaluated pathogenicunknown

(67 web hits)

RET C620Finsufficiently evaluated pathogenicunknown

(19 web hits)

RET C620Rinsufficiently evaluated pathogenicunknown

(214 web hits)

RET C620Sinsufficiently evaluated pathogenicunknown

(49 web hits)

RET C620Winsufficiently evaluated pathogenicunknown

(22 web hits)

RET C620Yinsufficiently evaluated pathogenicunknown

(27 web hits)

RET C634Finsufficiently evaluated pathogenicunknown

(50 web hits)

RET C634Ginsufficiently evaluated pathogenicunknown

(73 web hits)

RET C634Rinsufficiently evaluated pathogenicunknown

(591 web hits)

RET C634Sinsufficiently evaluated pathogenicunknown

(56 web hits)

RET C634Winsufficiently evaluated pathogenicunknown

(184 web hits)

RET C634Yinsufficiently evaluated pathogenicunknown

(695 web hits)

RET A640Ginsufficiently evaluated pathogenicunknown

(12 web hits)

RET V648Iinsufficiently evaluated pathogenic, f=0.000unknown

(15 web hits)

RET A680Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
RET G691Sinsufficiently evaluated not reviewed, f=0.156unknown

(1030 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01173-DNA_C02 from PGP sample 10366372
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS000006909
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
var-GS10851-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS00253-DNA_C01_200_37
var-GS18947-1100-36-ASM
var-GS19670-1100-36-ASM (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS20509-1100-36-ASM
var-GS18517-1100-36-ASM
RET S765Pinsufficiently evaluated pathogenicunknown

(17 web hits)

RET E768Dinsufficiently evaluated pathogenicunknown

(141 web hits)

RET V778Iinsufficiently evaluated pathogenicunknown

(50 web hits)

RET L790Finsufficiently evaluated pathogenicunknown

(56 web hits)

RET Y791Funcertain pathogenic, f=0.001unknown

Several publications asserted this variant caused familial medullary thyroid cancer in a dominant manner. However, a 2010 publication by Erlic et al. examined a larger set of controls, finding the variant no more common in cases than it was in controls. These authors conclude that the variant is not a serious cause of the disease, although they could not rule out a small effect on risk.

(579 web hits)

RET V804Linsufficiently evaluated pathogenicunknown

(255 web hits)

RET S829Ginsufficiently evaluated not reviewedunknown
RET S891Ainsufficiently evaluated pathogenicunknown

(188 web hits)

RET R897Qinsufficiently evaluated pathogenicunknown

(7 web hits)

RET P912Rinsufficiently evaluated pathogenicunknown

(6 web hits)

RET M918Tinsufficiently evaluated pathogenicunknown

(901 web hits)

RET R972Ginsufficiently evaluated pathogenicunknown

(8 web hits)

RET R982Cuncertain pathogenic, f=0.016dominant

Initially suspected of causing Hirschsprung’s disease, this rare variant has been later reported as present in unaffected controls (allele frequency around 1%). Supporting a lack of effect: Panini et al. did not find loss of function effects seen in other variants, and Svensson et al. report unaffected relatives in a family who carried the same variant. OMIM lists it as reported to cause increased susceptibility, but there do not appear to be any statistically significant reports supporting this hypothesis.

(19 web hits)

CGI sample GS000006909
var-GS19648-1100-36-ASM
RET P1039Linsufficiently evaluated pathogenic, f=0.000unknown

(20 web hits)

RETN N29Sinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
RETNLB S5Finsufficiently evaluated none, f=0.040unknown var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
RETNLB L14Shiftinsufficiently evaluated not reviewed, f=0.047unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01669-DNA_F02 from PGP sample 40767107
var-GS19020-1100-36-ASM
var-GS19703-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19649-1100-36-ASM (hom)
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37
CGI sample GS00253-DNA_D01_200_37
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM
var-GS06985-1100-36-ASM
RETNLB P20Linsufficiently evaluated none, f=0.239unknown 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
var-GS19025-1100-36-ASM
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18504-1100-36-ASM
var-GS19735-1100-36-ASM
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37 (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
var-GS19017-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS00253-DNA_C01_200_37
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
var-GS06985-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
RETNLB D37Ninsufficiently evaluated noneunknown
RETNLB C76Winsufficiently evaluated noneunknown
RETNLB A77Ginsufficiently evaluated noneunknown
RETNLB L89Minsufficiently evaluated not reviewed, f=0.000unknown var-GS18504-1100-36-ASM
RETNLB T92Pinsufficiently evaluated none, f=0.099unknown
RETSAT Q98Kinsufficiently evaluated not reviewed, f=0.008unknown var-GS19703-1100-36-ASM
RETSAT F134Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS06985-1100-36-ASM
RETSAT V218Minsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
RETSAT G267Shiftinsufficiently evaluated not reviewed, f=0.016unknown var-GS18537-1100-36-ASM
var-GS18940-1100-36-ASM
RETSAT I307Tinsufficiently evaluated not reviewedunknown
RETSAT V424Iinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01175-DNA_D03 from PGP sample 27486199
RETSAT A432Vinsufficiently evaluated none, f=0.000unknown var-GS18526-1100-36-ASM
var-GS18956-1100-36-ASM
RETSAT R457Qinsufficiently evaluated not reviewed, f=0.002unknown var-GS10851-1100-36-ASM
RETSAT TA466STinsufficiently evaluated not reviewedunknown CGI sample GS00253-DNA_F01_200_37
RETSAT R482Xinsufficiently evaluated not reviewed, f=0.008unknown hu34D5B9 exome
var-GS18940-1100-36-ASM
RETSAT S492Finsufficiently evaluated not reviewed, f=0.000unknown var-GS18940-1100-36-ASM
RETSAT A533Vinsufficiently evaluated none, f=0.184unknown var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS07357-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS20502-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS18505-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01175-DNA_D03 from PGP sample 27486199
RETSAT G536Rinsufficiently evaluated none, f=0.070unknown var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS07357-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS20502-1100-36-ASM
var-GS18526-1100-36-ASM
var-GS18505-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
RETSAT S551Delinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
var-GS19129-1100-36-ASM
RETSAT R553Kinsufficiently evaluated not reviewed, f=0.008unknown var-GS19129-1100-36-ASM
RETSAT P559Tinsufficiently evaluated none, f=0.008unknown

(4 web hits)

var-GS19129-1100-36-ASM
RETSAT G579Sinsufficiently evaluated not reviewed, f=0.001unknown var-GS06994-1100-36-ASM
RETSAT R604Winsufficiently evaluated noneunknown
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Total results: 79

Gene search

"GENE" or "GENE A123C":

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