GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
COL6A1 L8Rinsufficiently evaluated not reviewedunknown CGI sample GS000006909
COL6A1 L10Vinsufficiently evaluated not reviewedunknown CGI sample GS000006909
COL6A1 S116Ninsufficiently evaluated benign, f=0.041dominant

This variant was initially reported causative for Bethlem Myopathy after it was found in three individuals. Later studies find it with an allelic frequency of 0.01, however.

var-GS18942-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_C01_200_37
var-GS19669-1100-36-ASM
var-GS06985-1100-36-ASM
COL6A1 K121Rinsufficiently evaluated pathogenicunknown

(12 web hits)

COL6A1 D223Ninsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_D02 from PGP sample 27316983
COL6A1 G284Rinsufficiently evaluated pathogenicunknown

(7 web hits)

COL6A1 G286Vinsufficiently evaluated pathogenicunknown

(3 web hits)

COL6A1 G290Rinsufficiently evaluated pathogenicunknown

(1 web hit)

COL6A1 G341Dinsufficiently evaluated pathogenicunknown

(10 web hits)

COL6A1 A382Tinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
COL6A1 R433Qinsufficiently evaluated not reviewed, f=0.001unknown var-GS06985-1100-36-ASM
COL6A1 R439Qinsufficiently evaluated none, f=0.007unknown var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
COL6A1 P655Ainsufficiently evaluated noneunknown
COL6A1 Y659Xinsufficiently evaluated pathogenicunknown

(1 web hit)

COL6A1 I681Tinsufficiently evaluated not reviewed, f=0.014unknown var-GS18504-1100-36-ASM
COL6A1 K814Rinsufficiently evaluated none, f=0.007unknown hu232307 build 36 substitution variants
var-GS18940-1100-36-ASM (hom)
COL6A1 R850Hinsufficiently evaluated none, f=0.341unknown

(2 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
var-GS19025-1100-36-ASM (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
CGI sample GS00253-DNA_G01_200_37
var-GS19701-1100-36-ASM
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS21767-1100-36-ASM
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18508-1100-36-ASM
var-GS19669-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
COL6A1 S890Linsufficiently evaluated not reviewed, f=0.159unknown

(3 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
hu34D5B9 exome
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS000006909
var-GS07357-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
var-GS19026-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
COL6A1 A953Tinsufficiently evaluated not reviewed, f=0.001unknown var-GS18508-1100-36-ASM
COL6A1 E956Kinsufficiently evaluated not reviewed, f=0.001unknown CGI sample GS00253-DNA_D01_200_37
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Total results: 20

Gene search

"GENE" or "GENE A123C":

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