GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
PEX1 Q38Hinsufficiently evaluated not reviewed, f=0.009unknown var-GS20509-1100-36-ASM
PEX1 N187Sinsufficiently evaluated not reviewedunknown
PEX1 N271Sinsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_B02_200_37
PEX1 A381Dinsufficiently evaluated none, f=0.009unknown var-GS18504-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
PEX1 W507Cinsufficiently evaluated not reviewed, f=0.007unknown
PEX1 L664Pinsufficiently evaluated pathogenicunknown

(15 web hits)

PEX1 M695Tinsufficiently evaluated not reviewed, f=0.000unknown
PEX1 I696Mpathogenic, f=0.027recessive

Reported as a mutation causing peroxisome biogenesis disorder in a single patient, presumably in a recessive manner.

(2 web hits)

CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
PEX1 G843Dinsufficiently evaluated pathogenic, f=0.001unknown

(126 web hits)

CGI sample GS01669-DNA_B05 from PGP sample 86486261
PEX1 D1168Ginsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
PEX10 K41Rinsufficiently evaluated not reviewedunknown
PEX10 R125Xinsufficiently evaluated pathogenic, f=0.000unknown

(10 web hits)

PEX10 G140Rinsufficiently evaluated none, f=0.000unknown
PEX10 V249Linsufficiently evaluated not reviewed, f=0.008unknown var-GS19834-1100-36-ASM
PEX10 T274Ainsufficiently evaluated not reviewed, f=0.020unknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
PEX10 A285Ginsufficiently evaluated not reviewedunknown hu34D5B9 exome
CGI sample GS01175-DNA_F02 from PGP sample 95788191
PEX10 H290Qinsufficiently evaluated pathogenicunknown

(24 web hits)

PEX10 T294Ainsufficiently evaluated not reviewed, f=0.008unknown hu232307 build 36 substitution variants
PEX11A K245Rinsufficiently evaluated not reviewedunknown
PEX11B A21Tinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_A04 from PGP sample 13272228
PEX11G S13Xinsufficiently evaluated not reviewed, f=0.001unknown var-GS18501-1100-36-ASM
PEX11G C91Winsufficiently evaluated none, f=0.424unknown CGI sample GS00253-DNA_E01_200_37
CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS19025-1100-36-ASM
CGI sample GS01175-DNA_H01 from PGP sample 94797469
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
CGI sample GS000005532
var-GS19703-1100-36-ASM
hu232307 build 36 substitution variants
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM
CGI sample GS00253-DNA_A01_200_37
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
var-GS19648-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
CGI sample GS01173-DNA_F06 from PGP sample 64191565
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS19129-1100-36-ASM
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM (hom)
var-GS18947-1100-36-ASM
var-GS18505-1100-36-ASM (hom)
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
var-GS06994-1100-36-ASM
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01175-DNA_B04 from PGP sample 88590671
CGI sample GS01173-DNA_B02 from PGP sample 94378523
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
PEX11G P161Rinsufficiently evaluated not reviewed, f=0.002unknown var-GS19703-1100-36-ASM
PEX11G N194Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS18537-1100-36-ASM
PEX11G W205Xinsufficiently evaluated noneunknown
PEX11G R208Cinsufficiently evaluated not reviewed, f=0.001unknown var-GS19701-1100-36-ASM
PEX11G L216Finsufficiently evaluated none, f=0.022unknown

(2 web hits)

CGI sample GS000005532
CGI sample GS00253-DNA_B01_200_37
CGI sample GS01173-DNA_B07 from PGP sample 61499538
PEX12 R34Sinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_H01 from PGP sample 94797469
CGI sample GS01669-DNA_B03 from PGP sample 14427241
PEX12 R91Sinsufficiently evaluated pathogenicunknown

(1 web hit)

PEX12 R151Cinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_B05 from PGP sample 83494370
PEX12 R180Xinsufficiently evaluated pathogenicunknown

(1 web hit)

PEX12 K231Xinsufficiently evaluated pathogenicunknown

(1 web hit)

PEX12 L245Iinsufficiently evaluated none, f=0.012unknown var-GS18505-1100-36-ASM
PEX12 L317Finsufficiently evaluated pathogenicunknown
PEX12 S320Finsufficiently evaluated pathogenicunknown

(25 web hits)

PEX13 V119Iinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B05 from PGP sample 86486261
PEX13 F140Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
PEX13 D225Ginsufficiently evaluated not reviewed, f=0.007unknown var-GS18501-1100-36-ASM
PEX13 W234Xinsufficiently evaluated pathogenicunknown

(1 web hit)

PEX13 I326Tinsufficiently evaluated pathogenicunknown

(27 web hits)

PEX13 L360Vinsufficiently evaluated not reviewed, f=0.026unknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
hu34D5B9 exome
hu232307 build 36 substitution variants
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_B02 from PGP sample 94378523
PEX14 S70Ainsufficiently evaluated none, f=0.000unknown var-GS18942-1100-36-ASM
var-GS18526-1100-36-ASM
PEX14 V159Minsufficiently evaluated none, f=0.026unknown var-GS19700-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19704-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM
PEX14 Q185Xinsufficiently evaluated pathogenicunknown

(7 web hits)

PEX14 R320Kinsufficiently evaluated not reviewed, f=0.011unknown var-GS19700-1100-36-ASM
CGI sample GS00253-DNA_B02_200_37
PEX14 D331Einsufficiently evaluated not reviewed, f=0.008unknown var-GS18942-1100-36-ASM
PEX16 R66Qinsufficiently evaluated not reviewed, f=0.008unknown var-GS20502-1100-36-ASM
PEX16 V103Minsufficiently evaluated none, f=0.020unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
hu34D5B9 exome
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
var-GS19648-1100-36-ASM
var-GS19669-1100-36-ASM
PEX16 V116Iinsufficiently evaluated not reviewed, f=1.000unknown

(9 web hits)

CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
var-GS19025-1100-36-ASM (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants (hom)
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) (hom)
var-GS18942-1100-36-ASM (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS19020-1100-36-ASM (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS19700-1100-36-ASM (hom)
var-GS18501-1100-36-ASM (hom)
var-GS18504-1100-36-ASM (hom)
var-GS18558-1100-36-ASM (hom)
var-GS19735-1100-36-ASM (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532 (hom)
var-GS19703-1100-36-ASM (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
var-GS19701-1100-36-ASM (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS21767-1100-36-ASM (hom)
var-GS19704-1100-36-ASM (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19834-1100-36-ASM (hom)
var-GS19239-1100-36-ASM (hom)
var-GS19017-1100-36-ASM (hom)
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS19648-1100-36-ASM (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS00253-DNA_B02_200_37 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581 (hom)
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_B01 from PGP sample 86206034 (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
var-GS19129-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37 (hom)
var-GS19240-1100-36-ASM (hom)
CGI sample GS00253-DNA_C01_200_37 (hom)
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM (hom)
var-GS18505-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS19670-1100-36-ASM (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM (hom)
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM (hom)
var-GS18517-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
PEX16 D154Ginsufficiently evaluated not reviewed, f=0.000unknown var-GS19025-1100-36-ASM
PEX16 V167Minsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
PEX16 R176Xinsufficiently evaluated pathogenicunknown

(3 web hits)

PEX16 V254Linsufficiently evaluated not reviewed, f=0.019unknown var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_B01_200_37
var-GS06994-1100-36-ASM
PEX16 Y291Xinsufficiently evaluated not reviewedunknown
PEX16 P343Ainsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
PEX16 H345Pinsufficiently evaluated none, f=0.012unknown var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS18517-1100-36-ASM
PEX19 V276Ainsufficiently evaluated not reviewedunknown
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Total results: 57

Gene search

"GENE" or "GENE A123C":

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