GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
NPHP4 T29Minsufficiently evaluated none, f=0.042unknown var-GS18501-1100-36-ASM
var-GS18502-1100-36-ASM
NPHP4 A171Tinsufficiently evaluated not reviewed, f=0.004unknown
NPHP4 H267Linsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
NPHP4 E399Ginsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
NPHP4 S429Tinsufficiently evaluated not reviewed, f=0.000unknown var-GS19704-1100-36-ASM
NPHP4 A544Ginsufficiently evaluated not reviewed, f=0.026unknown

(1 web hit)

var-GS18504-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM
NPHP4 Q569Einsufficiently evaluated not reviewed, f=0.005unknown
NPHP4 P572Linsufficiently evaluated not reviewed, f=0.008unknown var-GS19735-1100-36-ASM
NPHP4 E618Kinsufficiently evaluated not reviewed, f=0.010unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
NPHP4 T623Ainsufficiently evaluated not reviewed, f=0.001unknown var-GS19700-1100-36-ASM
NPHP4 D656Ninsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_H06 from PGP sample 91708424
NPHP4 R658Xinsufficiently evaluated pathogenicunknown

(2 web hits)

NPHP4 T679Ainsufficiently evaluated not reviewed, f=0.000unknown var-GS19704-1100-36-ASM
NPHP4 R682Xinsufficiently evaluated pathogenicunknown

(2 web hits)

NPHP4 R740Hinsufficiently evaluated none, f=0.024unknown

(2 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
NPHP4 D753Ninsufficiently evaluated not reviewed, f=0.003unknown var-GS18508-1100-36-ASM
NPHP4 V765Iinsufficiently evaluated not reviewed, f=0.003unknown var-GS19704-1100-36-ASM
NPHP4 Q779Xinsufficiently evaluated pathogenicunknown

(4 web hits)

NPHP4 E790Xinsufficiently evaluated pathogenicunknown

(2 web hits)

NPHP4 Q793Xinsufficiently evaluated pathogenicunknown

(2 web hits)

NPHP4 R848Winsufficiently evaluated benign, f=0.016recessive

Association with Cerebello-Oculo-Renal Syndromes (CORS) which includes Joubert syndrome (JBTS); appears to be a benign polymorphism.

(10 web hits)

NPHP4 S885Rinsufficiently evaluated not reviewed, f=0.001unknown
NPHP4 H894Rinsufficiently evaluated not reviewed, f=0.004unknown

(1 web hit)

NPHP4 R959Qinsufficiently evaluated not reviewed, f=0.011unknown var-GS19239-1100-36-ASM
NPHP4 R961Hinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B02 from PGP sample 94378523
NPHP4 F991Sinsufficiently evaluated pathogenicunknown

(1 web hit)

NPHP4 A1110Vinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
NPHP4 P1160Linsufficiently evaluated none, f=0.014unknown PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS00253-DNA_A01_200_37
NPHP4 T1225Minsufficiently evaluated not reviewed, f=0.004unknown var-GS18508-1100-36-ASM
NPHP4 R1294Sinsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS000005532
NPHP4 S1300Ninsufficiently evaluated not reviewed, f=0.000unknown var-GS19700-1100-36-ASM
NPHP4 F1393Linsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B03 from PGP sample 14427241
NPHP4 D1413Ninsufficiently evaluated not reviewed, f=0.004unknown var-GS19238-1100-36-ASM
Page: 1 2 3 4
Total results: 33

Gene search

"GENE" or "GENE A123C":

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