GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ADAMTS13 R7Winsufficiently evaluated none, f=0.099unknown

(39 web hits)

CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS19020-1100-36-ASM
var-GS18504-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
hu232307 build 36 substitution variants
var-GS19017-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01173-DNA_A07 from PGP sample 96240009
ADAMTS13 R73RQRinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
ADAMTS13 H96Dinsufficiently evaluated pathogenicunknown

(14 web hits)

ADAMTS13 R102Cinsufficiently evaluated pathogenicunknown

(12 web hits)

ADAMTS13 T196Iinsufficiently evaluated pathogenic, f=0.000unknown

(13 web hits)

ADAMTS13 A250Vinsufficiently evaluated pathogenicunknown

(13 web hits)

ADAMTS13 R268Pinsufficiently evaluated pathogenicunknown

(25 web hits)

ADAMTS13 T339Rinsufficiently evaluated not reviewed, f=0.000unknown var-GS18537-1100-36-ASM
ADAMTS13 P341Linsufficiently evaluated not reviewed, f=0.009unknown var-GS19704-1100-36-ASM
var-GS18505-1100-36-ASM
ADAMTS13 R398Hinsufficiently evaluated pathogenicunknown

(17 web hits)

ADAMTS13 Q417Einsufficiently evaluated noneunknown
ADAMTS13 Q425Hinsufficiently evaluated unknownunknown hu728FFF build 36 substitution variants
ADAMTS13 P426Linsufficiently evaluated noneunknown

(2 web hits)

ADAMTS13 Q448Einsufficiently evaluated none, f=0.297unknown

(49 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS18501-1100-36-ASM
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)
CGI sample GS000005532
hu232307 build 36 substitution variants
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
var-GS19834-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18526-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
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_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS19669-1100-36-ASM
var-GS18940-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ADAMTS13 Q449Xinsufficiently evaluated pathogenicunknown

(5 web hits)

ADAMTS13 Q456Hinsufficiently evaluated unknown, f=0.017unknown

(5 web hits)

hu3215A7 build 36 substitution variants
var-GS18502-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS19026-1100-36-ASM
ADAMTS13 P457Linsufficiently evaluated pathogenic, f=0.002recessive

This variant was seen in a 20yo female with Thrombotic thrombocytopenic purpura together with P353L. Onset was 18yo, no affected family members, also suffers from epileptic seizures.

(12 web hits)

ADAMTS13 P475Sinsufficiently evaluated pathogenic, f=0.001unknown

(91 web hits)

var-GS18942-1100-36-ASM
ADAMTS13 R528Ginsufficiently evaluated pathogenicunknown

(11 web hits)

ADAMTS13 P587Ainsufficiently evaluated noneunknown
ADAMTS13 P618Ainsufficiently evaluated none, f=0.063unknown

(43 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_B05 from PGP sample 83494370
hu232307 build 36 substitution variants
var-GS18537-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
ADAMTS13 R625Hinsufficiently evaluated not reviewed, f=0.027unknown var-GS19703-1100-36-ASM
var-GS21767-1100-36-ASM
ADAMTS13 R692Cinsufficiently evaluated pathogenicunknown

(18 web hits)

ADAMTS13 E709Kinsufficiently evaluated unknownunknown hu728FFF build 36 substitution variants
ADAMTS13 A732Vinsufficiently evaluated not reviewed, f=0.011unknown hu232307 build 36 substitution variants
ADAMTS13 E740Kinsufficiently evaluated unknown, f=0.012unknown

(1 web hit)

hu3215A7 build 36 substitution variants
var-GS18502-1100-36-ASM
hu728FFF build 36 substitution variants
ADAMTS13 P744Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
ADAMTS13 V832Minsufficiently evaluated not reviewed, f=0.004unknown var-GS19703-1100-36-ASM
ADAMTS13 A869Vinsufficiently evaluated noneunknown
ADAMTS13 S872Linsufficiently evaluated noneunknown
ADAMTS13 A900Vinsufficiently evaluated none, f=0.113unknown

(14 web hits)

PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18504-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
var-GS19129-1100-36-ASM (hom)
var-GS06994-1100-36-ASM
CGI sample GS01175-DNA_B04 from PGP sample 88590671
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
ADAMTS13 S903Linsufficiently evaluated none, f=0.000unknown

(38 web hits)

var-GS18555-1100-36-ASM
ADAMTS13 C951Ginsufficiently evaluated pathogenicunknown

(11 web hits)

ADAMTS13 A1002Tinsufficiently evaluated not reviewedunknown
ADAMTS13 C1024Ginsufficiently evaluated pathogenic, f=0.000unknown

(10 web hits)

ADAMTS13 A1033Tinsufficiently evaluated not reviewed, f=0.028unknown

(8 web hits)

var-GS19020-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_A02_200_37
ADAMTS13 R1096Hinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
ADAMTS13 C1213Yinsufficiently evaluated pathogenicunknown

(25 web hits)

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Total results: 38

Gene search

"GENE" or "GENE A123C":

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