GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
RPE65 R91Winsufficiently evaluated pathogenic, f=0.000unknown

(252 web hits)

RPE65 A132Tinsufficiently evaluated pathogenic, f=0.001unknown

(8 web hits)

RPE65 R234Xinsufficiently evaluated pathogenicunknown

(28 web hits)

RPE65 K295Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS19703-1100-36-ASM
RPE65 L341Sinsufficiently evaluated pathogenicunknown

(7 web hits)

RPE65 P363Tinsufficiently evaluated pathogenicunknown

(14 web hits)

RPE65 A434Vinsufficiently evaluated none, f=0.025unknown

(11 web hits)

var-GS19129-1100-36-ASM
RPE65 V452Ginsufficiently evaluated pathogenicunknown

(3 web hits)

RPE65 R515Winsufficiently evaluated pathogenicunknown

(9 web hits)

Total results: 9

Gene search

"GENE" or "GENE A123C":

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