GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
MC2R S74Iinsufficiently evaluated pathogenic, f=0.000unknown

(40 web hits)

CGI sample GS01669-DNA_D02 from PGP sample 27316983
MC2R D107Ninsufficiently evaluated pathogenicunknown

(21 web hits)

MC2R S120Rinsufficiently evaluated pathogenicunknown

(23 web hits)

MC2R R128Cinsufficiently evaluated pathogenic, f=0.000unknown

(25 web hits)

MC2R R137Winsufficiently evaluated pathogenicunknown

(34 web hits)

MC2R R201Xinsufficiently evaluated pathogenicunknown

(14 web hits)

MC2R C251Finsufficiently evaluated pathogenicunknown

(17 web hits)

MC2R C251Yinsufficiently evaluated not reviewed, f=0.008unknown var-GS21767-1100-36-ASM
MC2R Y254Cinsufficiently evaluated pathogenicunknown

(23 web hits)

MC2R F278Cinsufficiently evaluated none, f=0.024unknown

(28 web hits)

var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS19834-1100-36-ASM
Total results: 10

Gene search

"GENE" or "GENE A123C":

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