GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
NOTCH2 P6Shiftinsufficiently evaluated not reviewedunknown hu34D5B9 exome
NOTCH2 C19Winsufficiently evaluated none, f=0.320unknown

(6 web hits)

CGI sample GS01173-DNA_C02 from PGP sample 10366372
hu34D5B9 exome
hu3215A7 build 36 substitution variants
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19017-1100-36-ASM
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
var-GS18947-1100-36-ASM
CGI sample GS01173-DNA_B02 from PGP sample 94378523
NOTCH2 A21Tinsufficiently evaluated not reviewed, f=0.208unknown CGI sample GS000006909
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_D05 from PGP sample 1205491
NOTCH2 E38Kinsufficiently evaluated not reviewed, f=0.305unknown var-GS19025-1100-36-ASM
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS000005532
hu232307 build 36 substitution variants
var-GS19704-1100-36-ASM
var-GS18537-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM
NOTCH2 N46Sinsufficiently evaluated not reviewed, f=0.321unknown var-GS19025-1100-36-ASM
PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16)
CGI sample GS000005532
hu232307 build 36 substitution variants
var-GS19704-1100-36-ASM
var-GS18537-1100-36-ASM
hu728FFF build 36 substitution variants
var-GS19669-1100-36-ASM
var-GS20509-1100-36-ASM
NOTCH2 S106Pinsufficiently evaluated not reviewed, f=0.038unknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
var-GS18508-1100-36-ASM
NOTCH2 P210Linsufficiently evaluated not reviewed, f=0.333unknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_G03 from PGP sample 92527586
var-GS19735-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
var-GS19017-1100-36-ASM
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_D01_200_37
var-GS18505-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
NOTCH2 S220Rinsufficiently evaluated not reviewed, f=0.000unknown var-GS19703-1100-36-ASM
NOTCH2 P227Huncertain benign, f=0.000unknown

Probably benign. Predicted to be damaging by Polyphen 2 and other damaging variants cause Alagille syndrome, but this variant is not rare enough and has been seen in a healthy PGP participant.

var-GS19703-1100-36-ASM
NOTCH2 T235Sinsufficiently evaluated not reviewed, f=0.065unknown var-GS19703-1100-36-ASM
var-GS19017-1100-36-ASM
NOTCH2 C444Yinsufficiently evaluated pathogenicunknown

(12 web hits)

NOTCH2 N506Sinsufficiently evaluated none, f=0.008unknown var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
NOTCH2 I681Ninsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS01175-DNA_B01 from PGP sample 86206034
var-GS18940-1100-36-ASM
NOTCH2 G929Rinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_B07 from PGP sample 61499538
NOTCH2 R1260Hinsufficiently evaluated not reviewed, f=0.016unknown var-GS18942-1100-36-ASM
var-GS18947-1100-36-ASM
NOTCH2 D1306Ninsufficiently evaluated not reviewed, f=0.000unknown var-GS06985-1100-36-ASM
NOTCH2 G1386Rinsufficiently evaluated none, f=0.008unknown var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM
NOTCH2 L1413Hinsufficiently evaluated not reviewed, f=0.003unknown

(1 web hit)

CGI sample GS01175-DNA_D05 from PGP sample 1205491
hu728FFF build 36 substitution variants
NOTCH2 Q1631Hinsufficiently evaluated not reviewedunknown
NOTCH2 I1689Finsufficiently evaluated none, f=0.000unknown var-GS18956-1100-36-ASM
NOTCH2 R2060Hinsufficiently evaluated not reviewedunknown
NOTCH2NL S67Pinsufficiently evaluated none, f=0.121unknown CGI sample GS00253-DNA_E01_200_37
hu34D5B9 exome
CGI sample GS00253-DNA_A02_200_37
NOTCH2NL R74Xinsufficiently evaluated not reviewed, f=0.015unknown var-GS19649-1100-36-ASM
NOTCH2NL P113Linsufficiently evaluated none, f=0.134unknown hu34D5B9 exome
NOTCH2NL A115Tinsufficiently evaluated none, f=0.020unknown
NOTCH2NL T158Iinsufficiently evaluated none, f=0.371unknown hu34D5B9 exome
NOTCH2NL S181Rinsufficiently evaluated none, f=0.226unknown hu34D5B9 exome
NOTCH2NL P188Hinsufficiently evaluated none, f=0.160unknown hu34D5B9 exome
NOTCH2NL T196Sinsufficiently evaluated not reviewedunknown hu34D5B9 exome
NOTCH2NL R216Shiftinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_D06 from PGP sample 69488604
NOTCH2NL T218Shiftinsufficiently evaluated not reviewed, f=0.023unknown var-GS18501-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19240-1100-36-ASM
NOTCH2NL E226Qinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_C02 from PGP sample 10366372
CGI sample GS01175-DNA_B05 from PGP sample 83494370
CGI sample GS01173-DNA_D06 from PGP sample 69488604
CGI sample GS01175-DNA_D01 from PGP sample 31286272
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Total results: 32

Gene search

"GENE" or "GENE A123C":

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