GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
NPHS1 G15Rinsufficiently evaluated none, f=0.004unknown var-GS19834-1100-36-ASM
NPHS1 A22Vinsufficiently evaluated not reviewed, f=0.008unknown var-GS18526-1100-36-ASM
NPHS1 E117Kinsufficiently evaluated none, f=0.227unknown

(10 web hits)

CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS07357-1100-36-ASM
CGI sample GS000005532
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228
var-GS19704-1100-36-ASM
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19649-1100-36-ASM (hom)
var-GS18537-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
var-GS18526-1100-36-ASM
hu728FFF build 36 substitution variants
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18940-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
NPHS1 P222Linsufficiently evaluated not reviewedunknown
NPHS1 T233Ainsufficiently evaluated not reviewed, f=0.004unknown
NPHS1 R256Wpathogenicrecessive

Reported to cause congenital nephrotic syndrome, a rare recessive disorder that leads to kidney failure in infants and often lethal by a year or two of age. This classification comes from Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) (see Clinvar: http://www.ncbi.nlm.nih.gov/clinvar/RCV000049935/). Heeringa et al 2008 (PMID: 18503012) report seeing this variant once in a study of 32 affected children.

NPHS1 L392Pinsufficiently evaluated not reviewed, f=0.019unknown CGI sample GS00253-DNA_B02_200_37
NPHS1 R408Qinsufficiently evaluated none, f=0.045unknown

(10 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_G03 from PGP sample 92527586
hu3215A7 build 36 substitution variants
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS12004-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS01175-DNA_F02 from PGP sample 95788191
CGI sample GS01173-DNA_B02 from PGP sample 94378523
NPHS1 E447Kinsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
NPHS1 G601Ainsufficiently evaluated not reviewed, f=0.009unknown var-GS18940-1100-36-ASM
NPHS1 R695Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS19025-1100-36-ASM
NPHS1 F873Shiftinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_B01_200_37
NPHS1 V957Linsufficiently evaluated not reviewed, f=0.008unknown var-GS18555-1100-36-ASM
NPHS1 V991Linsufficiently evaluated not reviewed, f=0.049unknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS19703-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS18508-1100-36-ASM
NPHS1 N1077Sinsufficiently evaluated none, f=0.106unknown

(6 web hits)

CGI sample GS00253-DNA_E01_200_37
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
var-GS18501-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS000005532
var-GS21767-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS18505-1100-36-ASM
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
NPHS1 R1089Tinsufficiently evaluated not reviewedunknown
NPHS1 R1109Xinsufficiently evaluated pathogenicunknown

(29 web hits)

NPHS1 P1200Sinsufficiently evaluated not reviewed, f=0.007unknown var-GS18508-1100-36-ASM
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Total results: 18

Gene search

"GENE" or "GENE A123C":

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