GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ACADS R46Winsufficiently evaluated pathogenicunknown

(3 web hits)

ACADS G66Sinsufficiently evaluated pathogenicunknown

(1 web hit)

ACADS G68Cinsufficiently evaluated pathogenicunknown

(5 web hits)

ACADS R107Cinsufficiently evaluated pathogenic, f=0.001recessive

This variant is associated with Short Chain Acyl-CoA Dehydrogenase Deficiency

(1 web hit)

ACADS R147Winsufficiently evaluated pathogenicunknown

(15 web hits)

ACADS W153Rinsufficiently evaluated pathogenicunknown

(5 web hits)

ACADS A168Vinsufficiently evaluated pathogenicunknown

(1 web hit)

ACADS R171Winsufficiently evaluated none, f=0.034unknown

(4 web hits)

CGI sample GS01175-DNA_B05 from PGP sample 83494370
ACADS W177Rinsufficiently evaluated none, f=0.002unknown

(2 web hits)

var-GS18517-1100-36-ASM
ACADS G185Sinsufficiently evaluated pathogenicrecessive

This variant is associated with Short Chain Acyl-CoA Dehydrogenase Deficiency

(14 web hits)

ACADS G209Sinsufficiently evaluated none, f=0.194unknown

(5 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
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
var-GS07357-1100-36-ASM
CGI sample GS000005532
hu232307 build 36 substitution variants
var-GS19701-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS18526-1100-36-ASM
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37
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
var-GS19669-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
ACADS T219Sinsufficiently evaluated not reviewed, f=0.002unknown var-GS18508-1100-36-ASM
ACADS R301Winsufficiently evaluated pathogenicunknown
ACADS S329Linsufficiently evaluated pathogenicunknown

(2 web hits)

ACADS R356Winsufficiently evaluated pathogenicunknown
ACADS R359Cinsufficiently evaluated pathogenicunknown

(5 web hits)

ACADSB R13Kinsufficiently evaluated none, f=0.281unknown

(1 web hit)

CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
var-GS18942-1100-36-ASM
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
var-GS07357-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS12004-1100-36-ASM (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS10851-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01175-DNA_D01 from PGP sample 31286272
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
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 (hom)
var-GS19026-1100-36-ASM
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
ACADSB H31Rinsufficiently evaluated not reviewed, f=0.000unknown var-GS19649-1100-36-ASM
var-GS18940-1100-36-ASM
ACADSB H213Qinsufficiently evaluated not reviewedunknown
ACADSB L222Finsufficiently evaluated pathogenicunknown

(3 web hits)

ACADSB N274Dinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_D03 from PGP sample 27486199
ACADSB I316Vinsufficiently evaluated not reviewed, f=0.072unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01669-DNA_C05 from PGP sample 42408046
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS18501-1100-36-ASM
var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS19026-1100-36-ASM
Page: 1 2 3
Total results: 22

Gene search

"GENE" or "GENE A123C":

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