GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
NF1 Q112Hinsufficiently evaluated not reviewedunknown
NF1 Y489Cinsufficiently evaluated not reviewedunknown
NF1 V551Ainsufficiently evaluated not reviewedunknown

(1 web hit)

NF1 S674Rinsufficiently evaluated not reviewedunknown
NF1 P678Linsufficiently evaluated not reviewed, f=0.001unknown var-GS19026-1100-36-ASM
NF1 E1089Kinsufficiently evaluated noneunknown

(1 web hit)

NF1 N1492Sinsufficiently evaluated not reviewedunknown
NF1 N1513Sinsufficiently evaluated not reviewedunknown
NF1 E1701Ginsufficiently evaluated not reviewedunknown
NF1 E1722Ginsufficiently evaluated not reviewedunknown
NF1 T1959Ainsufficiently evaluated not reviewedunknown
NF1 T1980Ainsufficiently evaluated not reviewedunknown
NF1 G2000Rinsufficiently evaluated not reviewedunknown
NF1 G2021Rinsufficiently evaluated not reviewed, f=0.008unknown
NF1 Q2700Rinsufficiently evaluated not reviewedunknown
NF1 Q2721Runcertain benign, f=0.008unknown

Rare, tentatively evaluated as benign. Predicted to be damaging by Polyphen 2, but other variants are predicted to cause disease in a dominant manner and this variant is present in a healthy PGP participant.

CGI sample GS00253-DNA_H01_200_37
Page: 1 2
Total results: 16

Gene search

"GENE" or "GENE A123C":

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