GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
DOK7 T14Sinsufficiently evaluated not reviewedunknown var-GS18504-1100-36-ASM
DOK7 R38Ginsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM (hom)
var-GS18501-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS18555-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS20509-1100-36-ASM
var-GS18956-1100-36-ASM
DOK7 Q43Hinsufficiently evaluated not reviewedunknown var-GS18517-1100-36-ASM
DOK7 S45Lpathogenic, f=0.006recessive

This variant was seen as a compound heterozygote (with either P376PfsX30 or P469H) in two individuals with congenital myasthenic syndromes (out of a screen of 200). Other mutations in this gene are associated with the syndrome, but there are insufficient controls to establish this variant in particular as significant.

(4 web hits)

CGI sample GS01175-DNA_D01 from PGP sample 31286272
DOK7 P49Linsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
DOK7 P61Tinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
DOK7 R98Linsufficiently evaluated not reviewed, f=0.009unknown var-GS19703-1100-36-ASM
DOK7 L108Pinsufficiently evaluated noneunknown
DOK7 H113Pinsufficiently evaluated not reviewed, f=0.141unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM (hom)
var-GS18501-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS18555-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
DOK7 R120Qinsufficiently evaluated not reviewed, f=0.125unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM (hom)
var-GS18501-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS18555-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
var-GS18947-1100-36-ASM (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS06985-1100-36-ASM
DOK7 T137Iinsufficiently evaluated not reviewed, f=0.158unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM (hom)
var-GS18501-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS18555-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
DOK7 G180Ainsufficiently evaluated pathogenicunknown
DOK7 P181Linsufficiently evaluated not reviewed, f=0.015unknown var-GS20502-1100-36-ASM
DOK7 D197Ninsufficiently evaluated not reviewed, f=0.023unknown var-GS19020-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18505-1100-36-ASM
DOK7 R201Xinsufficiently evaluated pathogenicunknown

(4 web hits)

DOK7 P214Luncertain benign, f=0.001unknown

Rare and unreported, tentatively evaluated as benign. Some severe mutations in this gene cause congenital myasthenic syndromes, but these are usually more severe (frameshift or nonsense mutatinos) and there are many other genomes with rare missense polymorphisms.

CGI sample GS00253-DNA_B02_200_37
DOK7 G248Rinsufficiently evaluated not reviewedunknown
DOK7 R261Cinsufficiently evaluated not reviewed, f=0.000unknown var-GS19704-1100-36-ASM
DOK7 H272Qinsufficiently evaluated not reviewed, f=0.008unknown var-GS18504-1100-36-ASM
DOK7 Q296Rinsufficiently evaluated not reviewed, f=0.161unknown

(5 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
hu3215A7 build 36 substitution variants
var-GS18942-1100-36-ASM (hom)
var-GS18501-1100-36-ASM
var-GS18558-1100-36-ASM
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS18555-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
hu728FFF build 36 substitution variants
var-GS18947-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS20509-1100-36-ASM
var-GS18956-1100-36-ASM
DOK7 A302Pinsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS18517-1100-36-ASM
DOK7 P319Hinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
DOK7 R323Cinsufficiently evaluated not reviewed, f=0.008unknown var-GS18504-1100-36-ASM
DOK7 P415Sinsufficiently evaluated none, f=0.063unknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM
var-GS19834-1100-36-ASM (hom)
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS18526-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
DOK7 R432Ginsufficiently evaluated not reviewed, f=0.008unknown var-GS21767-1100-36-ASM
DOK7 R451Winsufficiently evaluated none, f=0.014unknown var-GS19700-1100-36-ASM
DOK7 G461Dinsufficiently evaluated none, f=0.160unknown

(1 web hit)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM
CGI sample GS000006909
CGI sample GS000005532
var-GS19017-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS18537-1100-36-ASM
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
CGI sample GS01173-DNA_A07 from PGP sample 96240009
CGI sample GS01173-DNA_B07 from PGP sample 61499538
var-GS18508-1100-36-ASM (hom)
var-GS20509-1100-36-ASM
var-GS06985-1100-36-ASM
DOK7 S490Linsufficiently evaluated noneunknown

(1 web hit)

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Total results: 28

Gene search

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