GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
MMACHC D60Hinsufficiently evaluated none, f=0.029unknown var-GS18508-1100-36-ASM
var-GS18517-1100-36-ASM
MMACHC R111Xinsufficiently evaluated pathogenicunknown

(16 web hits)

MMACHC L116Pinsufficiently evaluated pathogenicunknown

(2 web hits)

MMACHC R132Xinsufficiently evaluated pathogenicunknown

(21 web hits)

MMACHC I145Linsufficiently evaluated none, f=0.002unknown

(1 web hit)

var-GS19129-1100-36-ASM
MMACHC R161Qinsufficiently evaluated pathogenicunknown

(7 web hits)

MMACHC W203Xinsufficiently evaluated not reviewed, f=0.008unknown var-GS18558-1100-36-ASM
MMACHC A256Tinsufficiently evaluated not reviewed, f=0.008unknown var-GS19703-1100-36-ASM
MMACHC S271Ginsufficiently evaluated none, f=0.043unknown

(1 web hit)

var-GS18501-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19026-1100-36-ASM
Total results: 9

Gene search

"GENE" or "GENE A123C":

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