GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
VPS13A I90Kinsufficiently evaluated pathogenicunknown

(2 web hits)

VPS13A E198Vinsufficiently evaluated not reviewedunknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
VPS13A R208Xinsufficiently evaluated pathogenicunknown

(2 web hits)

VPS13A Y365Cinsufficiently evaluated not reviewed, f=0.000unknown var-GS19670-1100-36-ASM
VPS13A E610Dinsufficiently evaluated not reviewedunknown
VPS13A S629Ginsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
VPS13A S734Ninsufficiently evaluated not reviewedunknown
VPS13A V898Ainsufficiently evaluated not reviewed, f=0.023unknown var-GS19703-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01175-DNA_B04 from PGP sample 88590671
VPS13A R1451Kinsufficiently evaluated noneunknown
VPS13A R1490Kinsufficiently evaluated none, f=0.019unknown var-GS19834-1100-36-ASM
var-GS18947-1100-36-ASM
var-GS18956-1100-36-ASM
VPS13A T1490Sinsufficiently evaluated noneunknown
VPS13A T1529Sinsufficiently evaluated none, f=0.000unknown
VPS13A D1604Ninsufficiently evaluated noneunknown
VPS13A D1643Ninsufficiently evaluated none, f=0.008unknown var-GS18947-1100-36-ASM
VPS13A I1657Yinsufficiently evaluated not reviewedunknown CGI sample GS000006909
VPS13A I1849Sinsufficiently evaluated noneunknown

(1 web hit)

VPS13A S1877Ninsufficiently evaluated noneunknown
VPS13A I1888Sinsufficiently evaluated noneunknown
VPS13A S1916Ninsufficiently evaluated none, f=0.016unknown var-GS19020-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18508-1100-36-ASM
VPS13A I1942Tinsufficiently evaluated not reviewedunknown
VPS13A R1962Cinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
VPS13A I1981Tinsufficiently evaluated not reviewedunknown
VPS13A M2007Iinsufficiently evaluated not reviewedunknown
VPS13A M2046Iinsufficiently evaluated not reviewedunknown
VPS13A E2137Ginsufficiently evaluated not reviewed, f=0.005unknown var-GS19020-1100-36-ASM
VPS13A S2167Ninsufficiently evaluated not reviewed, f=0.000unknown var-GS06994-1100-36-ASM
VPS13A P2602Linsufficiently evaluated not reviewed, f=0.008unknown var-GS18947-1100-36-ASM
VPS13A F2624Sinsufficiently evaluated not reviewedunknown
VPS13A K2633Ninsufficiently evaluated noneunknown
VPS13A F2663Sinsufficiently evaluated not reviewedunknown
VPS13A K2672Ninsufficiently evaluated none, f=0.001unknown

(1 web hit)

var-GS19129-1100-36-ASM
VPS13A K2743Tinsufficiently evaluated not reviewed, f=0.007unknown var-GS18508-1100-36-ASM
VPS13A S2784Ainsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_F02 from PGP sample 40767107
VPS13A L2878Sinsufficiently evaluated not reviewedunknown
VPS13A L2917Sinsufficiently evaluated not reviewedunknown
VPS13A P3133Linsufficiently evaluated noneunknown
VPS13A P3172Linsufficiently evaluated none, f=0.008unknown var-GS18555-1100-36-ASM
Page: 1 2 3 4
Total results: 37

Gene search

"GENE" or "GENE A123C":

Log in