GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
NPHS2 P20Linsufficiently evaluated pathogenic, f=0.003unknown

(52 web hits)

var-GS19026-1100-36-ASM
NPHS2 P54Linsufficiently evaluated not reviewed, f=0.009unknown var-GS19017-1100-36-ASM
NPHS2 A61Vinsufficiently evaluated not reviewed, f=0.006unknown var-GS18502-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS18517-1100-36-ASM
NPHS2 G92Cinsufficiently evaluated pathogenicunknown

(18 web hits)

NPHS2 R138Qinsufficiently evaluated pathogenic, f=0.001unknown

(218 web hits)

NPHS2 R138Xinsufficiently evaluated pathogenicunknown

(77 web hits)

NPHS2 D160Ginsufficiently evaluated pathogenicunknown

(12 web hits)

NPHS2 V180Minsufficiently evaluated pathogenicunknown

(51 web hits)

NPHS2 Q219Linsufficiently evaluated not reviewedunknown
NPHS2 R229Qinsufficiently evaluated not reviewed, f=0.027unknown var-GS19834-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS01173-DNA_F06 from PGP sample 64191565
NPHS2 R291Winsufficiently evaluated pathogenicunknown

(35 web hits)

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Total results: 11

Gene search

"GENE" or "GENE A123C":

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