GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
HSD3B2 G2Vinsufficiently evaluated not reviewed, f=0.003unknown var-GS18508-1100-36-ASM
HSD3B2 A10Einsufficiently evaluated pathogenicunknown

(69 web hits)

HSD3B2 E44Dinsufficiently evaluated not reviewed, f=0.001unknown
HSD3B2 D74Ninsufficiently evaluated not reviewed, f=0.004unknown var-GS18504-1100-36-ASM
var-GS19703-1100-36-ASM
var-GS18502-1100-36-ASM
HSD3B2 T104Pinsufficiently evaluated not reviewedunknown
HSD3B2 E142Kinsufficiently evaluated pathogenic, f=0.000unknown

(16 web hits)

HSD3B2 W171Xinsufficiently evaluated pathogenicunknown

(13 web hits)

HSD3B2 P222Tinsufficiently evaluated pathogenicunknown

(7 web hits)

HSD3B2 L236Sinsufficiently evaluated none, f=0.014unknown

(17 web hits)

var-GS19025-1100-36-ASM
var-GS18517-1100-36-ASM
HSD3B2 V248Ninsufficiently evaluated pathogenicunknown

(3 web hits)

HSD3B2 R249Xinsufficiently evaluated pathogenicunknown

(4 web hits)

HSD3B2 T259Minsufficiently evaluated pathogenic, f=0.000unknown

(49 web hits)

HSD3B2 I270Tinsufficiently evaluated none, f=0.001unknown
HSD3B2 P341Linsufficiently evaluated pathogenicunknown

(8 web hits)

Page: 1 2
Total results: 14

Gene search

"GENE" or "GENE A123C":

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