GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
NDRG1 H41Runcertain benign, f=0.001unknown

Tentatively classified as benign, although predicted by Polyphen 2 to be damaging. Other more severe null mutations (frameshift and nonsense) in this gene are reported to cause Charcot-Marie-Tooth disease type 4 in a recessive manner.

CGI sample GS00253-DNA_B01_200_37
NDRG1 M67Vinsufficiently evaluated not reviewed, f=0.010unknown

(1 web hit)

var-GS19240-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS19238-1100-36-ASM
NDRG1 R148Xinsufficiently evaluated pathogenicunknown

(99 web hits)

NDRG1 G159Dinsufficiently evaluated not reviewed, f=0.008unknown var-GS19017-1100-36-ASM
NDRG1 R325Wuncertain benign, f=0.008unknown

Tentatively classified as benign, although predicted by Polyphen 2 to be damaging. Other more severe null mutations (frameshift and nonsense) in this gene are reported to cause Charcot-Marie-Tooth disease type 4 in a recessive manner.

CGI sample GS00253-DNA_D01_200_37
NDRG1 T356Ainsufficiently evaluated not reviewedunknown
Total results: 6

Gene search

"GENE" or "GENE A123C":

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