GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ERCC5 L6Pinsufficiently evaluated not reviewedunknown
ERCC5 P72Hinsufficiently evaluated pathogenicunknown

(3 web hits)

ERCC5 Q136Xinsufficiently evaluated pathogenicunknown

(3 web hits)

ERCC5 V145Iinsufficiently evaluated noneunknown
ERCC5 E167Ginsufficiently evaluated noneunknown
ERCC5 Q176Xinsufficiently evaluated pathogenicunknown

(3 web hits)

ERCC5 M254Vinsufficiently evaluated not reviewedunknown

(8 web hits)

ERCC5 Q256Rinsufficiently evaluated noneunknown

(1 web hit)

ERCC5 R263Xinsufficiently evaluated pathogenicunknown

(4 web hits)

ERCC5 I295Tinsufficiently evaluated not reviewedunknown
ERCC5 P441Linsufficiently evaluated not reviewedunknown
ERCC5 C529Sinsufficiently evaluated noneunknown

(2 web hits)

ERCC5 E601Ginsufficiently evaluated noneunknown
ERCC5 A792Vinsufficiently evaluated pathogenicunknown

(6 web hits)

ERCC5 L858Pinsufficiently evaluated pathogenicunknown

(4 web hits)

ERCC5 A874Tinsufficiently evaluated pathogenicunknown

(3 web hits)

ERCC5 E960Xinsufficiently evaluated pathogenicunknown
ERCC5 G1053Rinsufficiently evaluated noneunknown

(9 web hits)

hu728FFF build 36 substitution variants (hom)
ERCC5 G1080Rinsufficiently evaluated noneunknown

(9 web hits)

hu728FFF build 36 substitution variants (hom)
ERCC5 D1104Hinsufficiently evaluated noneunknown

(45 web hits)

Page: 1 2
Total results: 20

Gene search

"GENE" or "GENE A123C":

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