GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PGAM2 W78Xinsufficiently evaluated pathogenic, f=0.003unknown

(1 web hit)

PGAM2 E89Ainsufficiently evaluated pathogenic, f=0.000unknown
PGAM2 R90Winsufficiently evaluated pathogenicunknown
PGAM2 G97Dinsufficiently evaluated pathogenic, f=0.008dominant

This variant was implicated in a dominant fashion for causing Phosphoglycerate Mutase Deficiency in single Japanese family but had conflicting evidence — two heterozygotes were asymptomatic. This is labeled as dominant, but disease-causing mutations in this gene are generally recessive.

(3 web hits)

var-GS18555-1100-36-ASM
PGAM2 I114Sinsufficiently evaluated not reviewed, f=0.022unknown var-GS19700-1100-36-ASM
var-GS19834-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS18940-1100-36-ASM
PGAM2 G148Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
Total results: 6

Gene search

"GENE" or "GENE A123C":

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