GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ACADM Y42Hinsufficiently evaluated pathogenicrecessive

This variant is associated with Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency

(30 web hits)

ACADM E47Kinsufficiently evaluated not reviewed, f=0.002unknown var-GS20509-1100-36-ASM
ACADM L59Finsufficiently evaluated not reviewedunknown
ACADM T96Iinsufficiently evaluated pathogenicunknown

(9 web hits)

ACADM M149Iinsufficiently evaluated pathogenicunknown
ACADM T168Ainsufficiently evaluated pathogenicunknown

(8 web hits)

ACADM G170Rinsufficiently evaluated pathogenicrecessive

Variant is associated with Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency

(3 web hits)

ACADM R181Cinsufficiently evaluated not reviewedunknown

(6 web hits)

ACADM R181Hinsufficiently evaluated not reviewedunknown
ACADM R206Cpathogenicrecessive

Reported to cause Medium-chain acyl-coenzyme A dehydrogenase deficiency, a recessive disorder. This is recorded in ClinVar by Emory Genetics Lab (http://www.ncbi.nlm.nih.gov/clinvar/RCV000180087/). No additional data is avaliable, but the variant’s rarity seems consistent with this reported effect.

ACADM S220Linsufficiently evaluated pathogenicunknown

(4 web hits)

ACADM G242Rinsufficiently evaluated not reviewedunknown
ACADM C244Rinsufficiently evaluated pathogenicunknown
ACADM R256Tinsufficiently evaluated pathogenicunknown

(4 web hits)

ACADM G267Rinsufficiently evaluated pathogenicunknown

(9 web hits)

ACADM K304Einsufficiently evaluated pathogenicrecessive

This variant is causative for Medium-chain acyl-CoA dehydrogenase deficiency.

(85 web hits)

ACADM I375Tinsufficiently evaluated pathogenicunknown
ACADM K389Rinsufficiently evaluated not reviewedunknown
ACADM K393Rinsufficiently evaluated not reviewedunknown
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Total results: 19

Gene search

"GENE" or "GENE A123C":

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