GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
UBE3A G102Dinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
UBE3A T106Pinsufficiently evaluated pathogenicunknown

(7 web hits)

UBE3A I130Tinsufficiently evaluated pathogenicunknown

(6 web hits)

UBE3A A201Tinsufficiently evaluated not reviewed, f=0.012unknown var-GS20502-1100-36-ASM
UBE3A T272Minsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_A04 from PGP sample 08188426
UBE3A N275Sinsufficiently evaluated not reviewed, f=0.000unknown var-GS19026-1100-36-ASM
UBE3A E392Xinsufficiently evaluated noneunknown
UBE3A E412Xinsufficiently evaluated noneunknown
UBE3A E415Xinsufficiently evaluated noneunknown
UBE3A R417Xinsufficiently evaluated pathogenicunknown

(11 web hits)

UBE3A Q531Xinsufficiently evaluated noneunknown
UBE3A Q551Xinsufficiently evaluated noneunknown
UBE3A Q554Xinsufficiently evaluated noneunknown
UBE3A F560Sinsufficiently evaluated not reviewedunknown
UBE3A F580Sinsufficiently evaluated not reviewedunknown
UBE3A F583Sinsufficiently evaluated not reviewedunknown
UBE3A W768Xinsufficiently evaluated pathogenicunknown

(8 web hits)

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Total results: 17

Gene search

"GENE" or "GENE A123C":

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