GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
ACADVL L17Finsufficiently evaluated not reviewed, f=0.022unknown var-GS19020-1100-36-ASM (hom)
ACADVL G43Dinsufficiently evaluated not reviewed, f=0.012unknown var-GS19017-1100-36-ASM
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18526-1100-36-ASM (hom)
ACADVL P65Linsufficiently evaluated none, f=0.034unknown

(12 web hits)

CGI sample GS00253-DNA_B02_200_37
ACADVL E92Kinsufficiently evaluated not reviewedunknown
ACADVL K103Rinsufficiently evaluated not reviewed, f=0.004unknown var-GS19026-1100-36-ASM
ACADVL E114Kinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_B02_200_37
ACADVL R344Pinsufficiently evaluated not reviewedunknown
ACADVL R363Winsufficiently evaluated not reviewedunknown
ACADVL R366Pinsufficiently evaluated not reviewedunknown
ACADVL K382Qinsufficiently evaluated pathogenicunknown

(1 web hit)

ACADVL R385Wpathogenic, f=0.008recessive

Predicted to be damaging. Other recessive mutations in this gene cause Very Long Chain Acyl-Coenzyme A Dehydrogenase Deficiency, and this variant is mentioned in an online database linking it to this disease.

CGI sample GS00253-DNA_E01_200_37
ACADVL G401Dinsufficiently evaluated pathogenicunknown

(2 web hits)

ACADVL R410Hinsufficiently evaluated pathogenicunknown

(1 web hit)

ACADVL A416Tinsufficiently evaluated pathogenicunknown

(1 web hit)

ACADVL R450Hinsufficiently evaluated pathogenicunknown

(7 web hits)

ACADVL F458Linsufficiently evaluated pathogenicunknown

(1 web hit)

ACADVL E534Kinsufficiently evaluated not reviewed, f=0.010unknown var-GS18504-1100-36-ASM
ACADVL R613Winsufficiently evaluated pathogenicunknown

(1 web hit)

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Total results: 18

Gene search

"GENE" or "GENE A123C":

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