GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PDHA1 R10Pinsufficiently evaluated pathogenicunknown

(14 web hits)

PDHA1 T25Minsufficiently evaluated not reviewedunknown
PDHA1 F205Linsufficiently evaluated pathogenicunknown

(50 web hits)

PDHA1 L216Finsufficiently evaluated pathogenicunknown

(11 web hits)

PDHA1 R234Ginsufficiently evaluated pathogenicunknown

(3 web hits)

PDHA1 Y243Ninsufficiently evaluated pathogenicunknown

(3 web hits)

PDHA1 D258Ainsufficiently evaluated pathogenicunknown
PDHA1 R263Ginsufficiently evaluated pathogenicunknown

(65 web hits)

PDHA1 M282Linsufficiently evaluated benign, f=0.001unknown

Claimed to cause X-linked pyruvate dehydrogenase deficiency (causing early onset severe encephalopathy and lactic acidosis) — unusually in a female carrier who was hypothesized to be symptomatic due to X inactivation of the other, functional copy of the gene. However, this variant is very common in east asian ethnicities, strongly contradicting a pathogenic hypothesis.

(2 web hits)

var-GS18942-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
var-GS18555-1100-36-ASM
var-GS18537-1100-36-ASM
var-GS18947-1100-36-ASM
PDHA1 R288Hinsufficiently evaluated pathogenicunknown

(4 web hits)

PDHA1 R302Cinsufficiently evaluated pathogenicunknown

(17 web hits)

PDHA1 D315Ninsufficiently evaluated pathogenicunknown

(3 web hits)

PDHA1 E333Dinsufficiently evaluated not reviewed, f=0.001unknown var-GS19017-1100-36-ASM
PDHA1 R378Hinsufficiently evaluated pathogenicunknown

(13 web hits)

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Total results: 14

Gene search

"GENE" or "GENE A123C":

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