GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SPG11 G14Sinsufficiently evaluated not reviewed, f=0.008unknown var-GS20509-1100-36-ASM
SPG11 M22Vinsufficiently evaluated not reviewed, f=0.003unknown var-GS19026-1100-36-ASM (hom)
SPG11 L268Finsufficiently evaluated not reviewedunknown
SPG11 E370Kinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01173-DNA_B02 from PGP sample 94378523
SPG11 Y396Cinsufficiently evaluated not reviewed, f=0.008unknown var-GS18942-1100-36-ASM
SPG11 P424Tinsufficiently evaluated not reviewed, f=0.000unknown var-GS19834-1100-36-ASM
SPG11 I450Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS18558-1100-36-ASM
var-GS18526-1100-36-ASM
SPG11 F463Sinsufficiently evaluated not reviewed, f=0.480unknown

(7 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
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants (hom)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM
var-GS18504-1100-36-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
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
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 (hom)
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM
var-GS19648-1100-36-ASM
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants (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
var-GS06994-1100-36-ASM
CGI sample GS00253-DNA_H01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
SPG11 A695Tinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
SPG11 K827Rinsufficiently evaluated not reviewedunknown hu232307 build 36 substitution variants
SPG11 Y886Hinsufficiently evaluated not reviewed, f=0.004unknown var-GS19700-1100-36-ASM
var-GS19017-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_D01_200_37
SPG11 K1013Epathogenic, f=0.010recessive

One unpublished report links this to causing spastic paraplegia in a recessive manner, but insufficient data exists to evaluate significance. Most mutations in this reported to cause the disease in this gene are more severe null mutations (frameshift or nonsense).

(1 web hit)

hu34D5B9 exome
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS00253-DNA_D01_200_37
SPG11 S1183Pinsufficiently evaluated not reviewedunknown
SPG11 K1273Rinsufficiently evaluated not reviewed, f=0.009unknown CGI sample GS00253-DNA_B02_200_37
SPG11 R1563Ginsufficiently evaluated none, f=0.005unknown var-GS19129-1100-36-ASM
SPG11 F1604Linsufficiently evaluated not reviewed, f=0.009unknown var-GS19025-1100-36-ASM (hom)
SPG11 V2011Ainsufficiently evaluated not reviewedunknown
SPG11 R2034Xinsufficiently evaluated pathogenicunknown

(23 web hits)

SPG11 L2095Sinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B01 from PGP sample 86206034
SPG11 K2306Rinsufficiently evaluated noneunknown
SPG11 L2357Finsufficiently evaluated not reviewed, f=0.002unknown var-GS19648-1100-36-ASM
SPG11 Q2387Delinsufficiently evaluated not reviewed, f=0.008unknown var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
SPG11 K2419Rinsufficiently evaluated none, f=0.013unknown var-GS19834-1100-36-ASM
var-GS19129-1100-36-ASM
Page: 1 2 3
Total results: 23

Gene search

"GENE" or "GENE A123C":

Log in