GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
TSC2 K12Xinsufficiently evaluated pathogenicunknown

(3 web hits)

TSC2 M286Vinsufficiently evaluated not reviewed, f=0.000unknown var-GS18558-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
TSC2 L309Hinsufficiently evaluated none, f=0.000unknown
TSC2 L309Qinsufficiently evaluated not reviewed, f=0.008unknown var-GS18517-1100-36-ASM
TSC2 E366Xinsufficiently evaluated pathogenicunknown
TSC2 R367Qinsufficiently evaluated not reviewed, f=0.016unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19670-1100-36-ASM
TSC2 D376Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS19648-1100-36-ASM
TSC2 G440Sinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
TSC2 A460Tinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
TSC2 Q478Xinsufficiently evaluated pathogenicunknown

(6 web hits)

TSC2 R505Xinsufficiently evaluated pathogenicunknown

(8 web hits)

TSC2 A583Tinsufficiently evaluated not reviewed, f=0.003unknown var-GS12004-1100-36-ASM
TSC2 R611Qinsufficiently evaluated pathogenicunknown

(51 web hits)

TSC2 L717Rinsufficiently evaluated pathogenicunknown

(5 web hits)

TSC2 R905Qinsufficiently evaluated pathogenicunknown

(67 web hits)

TSC2 R1034Ginsufficiently evaluated noneunknown
TSC2 R1078Ginsufficiently evaluated noneunknown
TSC2 A1141Vinsufficiently evaluated not reviewed, f=0.007unknown var-GS19703-1100-36-ASM
TSC2 R1261Kinsufficiently evaluated not reviewedunknown
TSC2 A1297Tinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
TSC2 R1305Kinsufficiently evaluated not reviewedunknown
TSC2 R1328Kinsufficiently evaluated not reviewedunknown
TSC2 R1329Hinsufficiently evaluated not reviewed, f=0.017unknown var-GS18504-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS18502-1100-36-ASM
TSC2 R1410Sinsufficiently evaluated noneunknown
TSC2 G1439Dinsufficiently evaluated not reviewed, f=0.004unknown var-GS19703-1100-36-ASM
var-GS19704-1100-36-ASM
TSC2 R1454Sinsufficiently evaluated noneunknown
TSC2 R1477Sinsufficiently evaluated none, f=0.008unknown var-GS18956-1100-36-ASM
TSC2 Q1503Pinsufficiently evaluated pathogenicunknown

(4 web hits)

TSC2 S1631Rinsufficiently evaluated not reviewedunknown
TSC2 D1667Einsufficiently evaluated not reviewedunknown
TSC2 P1675Linsufficiently evaluated pathogenicunknown

(18 web hits)

TSC2 S1675Rinsufficiently evaluated not reviewedunknown
TSC2 S1698Rinsufficiently evaluated not reviewed, f=0.001unknown
TSC2 R1706Cinsufficiently evaluated not reviewed, f=0.008unknown var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_B07 from PGP sample 61499538
TSC2 D1711Einsufficiently evaluated not reviewedunknown
TSC2 D1734Einsufficiently evaluated not reviewedunknown
TSC2 S1774Tinsufficiently evaluated not reviewed, f=0.010unknown var-GS19703-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS18502-1100-36-ASM
TSC22D1 S256Ginsufficiently evaluated none, f=0.008unknown
TSC22D1 V448Delinsufficiently evaluated not reviewed, f=0.008unknown var-GS19670-1100-36-ASM
TSC22D1 V474Linsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
TSC22D1 Q507Shiftinsufficiently evaluated not reviewed, f=0.010unknown var-GS19703-1100-36-ASM
TSC22D1 P652Sinsufficiently evaluated none, f=0.088unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19670-1100-36-ASM
CGI sample GS01175-DNA_B04 from PGP sample 88590671
TSC22D1 P661Linsufficiently evaluated not reviewedunknown
TSC22D1 V713Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS21767-1100-36-ASM
TSC22D1 V713VQPVinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01175-DNA_B04 from PGP sample 88590671
TSC22D1 V713VQPVQPVinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D01 from PGP sample 31286272
TSC22D1 Q756Einsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_E01_200_37
TSC22D1 S945Linsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01175-DNA_B05 from PGP sample 83494370
TSC22D2 L88Vinsufficiently evaluated not reviewed, f=0.000unknown
TSC22D2 V271Iinsufficiently evaluated none, f=0.028unknown var-GS19700-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19129-1100-36-ASM
TSC22D2 A419Tinsufficiently evaluated none, f=0.182unknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
hu34D5B9 exome (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
var-GS18502-1100-36-ASM
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
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19240-1100-36-ASM
var-GS06994-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
var-GS06985-1100-36-ASM
TSC22D2 G497Sinsufficiently evaluated not reviewed, f=0.006unknown var-GS18505-1100-36-ASM
TSC22D4 G134Sinsufficiently evaluated noneunknown
TSC22D4 P138Sinsufficiently evaluated not reviewed, f=0.009unknown var-GS20509-1100-36-ASM
TSC22D4 P184Sinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B01 from PGP sample 86206034
TSC22D4 R384Winsufficiently evaluated none, f=0.006unknown CGI sample GS000006909
Page: 1 2 3 4 5 6
Total results: 56

Gene search

"GENE" or "GENE A123C":

Log in