GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SH3TC2 A80Tinsufficiently evaluated not reviewed, f=0.003unknown
SH3TC2 G171Einsufficiently evaluated none, f=0.013unknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
var-GS18942-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS18526-1100-36-ASM
SH3TC2 A468Sinsufficiently evaluated not reviewed, f=0.241unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
hu34D5B9 exome
hu3215A7 build 36 substitution variants
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18504-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM (hom)
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19701-1100-36-ASM (hom)
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19240-1100-36-ASM
hu728FFF build 36 substitution variants
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18517-1100-36-ASM
SH3TC2 R529Qinsufficiently evaluated pathogenicunknown

(5 web hits)

SH3TC2 E657Kinsufficiently evaluated pathogenicunknown

(10 web hits)

SH3TC2 H696Rinsufficiently evaluated not reviewed, f=0.006unknown var-GS19700-1100-36-ASM
SH3TC2 N897Kinsufficiently evaluated none, f=0.007unknown var-GS18501-1100-36-ASM
SH3TC2 Q928Hinsufficiently evaluated not reviewedunknown
SH3TC2 Y943Xinsufficiently evaluated pathogenic, f=0.000unknown

(4 web hits)

SH3TC2 R954Xinsufficiently evaluated pathogenic, f=0.001unknown

(28 web hits)

SH3TC2 R1109Xinsufficiently evaluated pathogenic, f=0.000unknown

(56 web hits)

SH3TC2 V1158Iinsufficiently evaluated not reviewed, f=0.024unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS19701-1100-36-ASM
var-GS06985-1100-36-ASM
SH3TC2 D1229Vinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
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Total results: 13

Gene search

"GENE" or "GENE A123C":

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