GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
SGCE R97Xinsufficiently evaluated pathogenicunknown

(37 web hits)

SGCE R102Xinsufficiently evaluated pathogenic, f=0.000unknown

(32 web hits)

SGCE N168Hinsufficiently evaluated noneunknown
SGCE L196Rinsufficiently evaluated pathogenicunknown

(5 web hits)

SGCE T257Pinsufficiently evaluated not reviewed, f=0.003unknown var-GS19239-1100-36-ASM
SGCE R372Xinsufficiently evaluated pathogenicunknown

(14 web hits)

SGCE S432Rinsufficiently evaluated noneunknown
SGCE D433Ninsufficiently evaluated not reviewedunknown
Total results: 8

Gene search

"GENE" or "GENE A123C":

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