GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
SEPT9 R88Winsufficiently evaluated pathogenicunknown

(160 web hits)

SEPT9 S93Finsufficiently evaluated pathogenicunknown

(10 web hits)

SEPT9 R104Winsufficiently evaluated not reviewedunknown
SEPT9 P127Linsufficiently evaluated not reviewedunknown

(1 web hit)

hu728FFF build 36 substitution variants (hom)
SEPT9 P127Rinsufficiently evaluated not reviewedunknown
SEPT9 P138Linsufficiently evaluated not reviewedunknown hu728FFF build 36 substitution variants (hom)
SEPT9 P138Rinsufficiently evaluated not reviewedunknown

(1 web hit)

SEPT9 P145Linsufficiently evaluated not reviewed, f=0.081unknown

(1 web hit)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
PGP13 (hu3A8D13) build 37, from CGI var (software ver
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_C01_200_37
hu728FFF build 36 substitution variants (hom)
SEPT9 P145Rinsufficiently evaluated not reviewedunknown
SEPT9 R191Winsufficiently evaluated not reviewedunknown
SEPT9 R243Winsufficiently evaluated not reviewedunknown
SEPT9 M325Vinsufficiently evaluated noneunknown
SEPT9 R337Winsufficiently evaluated not reviewedunknown
SEPT9 R348Winsufficiently evaluated not reviewedunknown
SEPT9 R355Wuncertain benign, f=0.001unknown

Rare, tentatively classified as benign. Other missense variants in this gene are reported to cause familial neuralgic amyotrophy in a dominant manner, but this was seen in a PGP participant who has not reported a family history of the disease.

CGI sample GS00253-DNA_F01_200_37
SEPT9 M412Vinsufficiently evaluated noneunknown
SEPT9 M464Vinsufficiently evaluated noneunknown
SEPT9 M558Vinsufficiently evaluated noneunknown
SEPT9 M569Vinsufficiently evaluated noneunknown
SEPT9 M576Vinsufficiently evaluated none, f=0.893unknown hu3215A7 build 36 substitution variants (hom)
hu34D5B9 exome (hom)
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Total results: 20

Gene search

"GENE" or "GENE A123C":

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