GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
NOTCH3 W71Cinsufficiently evaluated pathogenicunknown

(2 web hits)

NOTCH3 R133Cinsufficiently evaluated pathogenicunknown

(324 web hits)

NOTCH3 R169Cinsufficiently evaluated pathogenicunknown

(45 web hits)

NOTCH3 G179Vinsufficiently evaluated not reviewed, f=0.001unknown var-GS18501-1100-36-ASM
NOTCH3 R182Cinsufficiently evaluated pathogenicunknown

(61 web hits)

NOTCH3 R207Hinsufficiently evaluated not reviewed, f=0.008unknown var-GS19017-1100-36-ASM
NOTCH3 R332Cinsufficiently evaluated pathogenicunknown

(17 web hits)

NOTCH3 C455Rinsufficiently evaluated pathogenicunknown

(164 web hits)

NOTCH3 P496Luncertain benign, f=0.016unknown

Presumed benign, seen in two healthy PGP participants.

hu34D5B9 exome
CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
CGI sample GS01173-DNA_B02 from PGP sample 94378523
NOTCH3 S497Linsufficiently evaluated not reviewed, f=0.008unknown var-GS19648-1100-36-ASM (hom)
NOTCH3 T540Minsufficiently evaluated not reviewed, f=0.008unknown var-GS19700-1100-36-ASM
NOTCH3 R680Hinsufficiently evaluated not reviewed, f=0.017unknown var-GS18505-1100-36-ASM
NOTCH3 R728Hinsufficiently evaluated not reviewedunknown CGI sample GS01173-DNA_F02 from PGP sample 70008981
NOTCH3 N856Yinsufficiently evaluated not reviewedunknown
NOTCH3 A1020Puncertain benign, f=0.112undefined

Probably nonpathogenic. Reported by Scheid et al. as possibly causing CADASIL in a dominant manner, but an immediate follow-up from Quattrone et al. disagreed with this hypothesis, pointing to the presence of the variant in their own controls and the high allele frequency for the variant seen in dbSNP data.

(7 web hits)

var-GS19025-1100-36-ASM
var-GS07357-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM (hom)
var-GS19701-1100-36-ASM
var-GS19834-1100-36-ASM
var-GS19239-1100-36-ASM
var-GS19017-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19648-1100-36-ASM (hom)
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM (hom)
var-GS19238-1100-36-ASM (hom)
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18517-1100-36-ASM
NOTCH3 H1133Quncertain benign, f=0.013unknown

Probably benign.

CGI sample GS00253-DNA_G01_200_37
NOTCH3 R1143Cinsufficiently evaluated none, f=0.008unknown var-GS18956-1100-36-ASM
NOTCH3 V1183Minsufficiently evaluated not reviewed, f=0.091unknown

(1 web hit)

var-GS19025-1100-36-ASM
var-GS07357-1100-36-ASM
CGI sample GS000005532
var-GS19703-1100-36-ASM (hom)
var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM
var-GS19129-1100-36-ASM (hom)
var-GS19240-1100-36-ASM
var-GS19238-1100-36-ASM (hom)
var-GS18508-1100-36-ASM
var-GS19026-1100-36-ASM
var-GS18517-1100-36-ASM
NOTCH3 H1235Linsufficiently evaluated not reviewed, f=0.005unknown CGI sample GS00253-DNA_F01_200_37
var-GS20502-1100-36-ASM
NOTCH3 L1296Rinsufficiently evaluated not reviewedunknown CGI sample GS000006909
NOTCH3 L1518Minsufficiently evaluated not reviewed, f=0.002unknown var-GS18558-1100-36-ASM
NOTCH3 R1560Pinsufficiently evaluated not reviewed, f=0.004unknown var-GS19025-1100-36-ASM
NOTCH3 V1952Ginsufficiently evaluated noneunknown
NOTCH3 V1952Muncertain benign, f=0.008unknown

Probably benign.

CGI sample GS00253-DNA_A02_200_37
NOTCH3 A2070Vinsufficiently evaluated not reviewed, f=0.010unknown var-GS20502-1100-36-ASM
NOTCH3 P2074Linsufficiently evaluated not reviewed, f=0.016unknown var-GS18501-1100-36-ASM
var-GS18504-1100-36-ASM
NOTCH3 G2112Sinsufficiently evaluated not reviewedunknown CGI sample GS01175-DNA_G03 from PGP sample 92527586
NOTCH3 P2178Ainsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_C07 from PGP sample 74521372
NOTCH3 P2204Linsufficiently evaluated not reviewed, f=0.008unknown var-GS20509-1100-36-ASM
NOTCH3 A2223Vinsufficiently evaluated not reviewed, f=0.731unknown 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)
CGI sample GS01669-DNA_F02 from PGP sample 40767107 (hom)
CGI sample GS01175-DNA_H01 from PGP sample 94797469
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
var-GS19020-1100-36-ASM
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
var-GS18501-1100-36-ASM
var-GS18558-1100-36-ASM
var-GS19735-1100-36-ASM
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
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
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 (hom)
var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM (hom)
var-GS19649-1100-36-ASM
var-GS18555-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261 (hom)
var-GS18537-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS00253-DNA_B02_200_37
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
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
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_C01_200_37
var-GS18526-1100-36-ASM (hom)
hu728FFF build 36 substitution variants (hom)
var-GS18947-1100-36-ASM
var-GS19238-1100-36-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
CGI sample GS01175-DNA_F02 from PGP sample 95788191
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
var-GS18508-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
var-GS19026-1100-36-ASM
var-GS20509-1100-36-ASM (hom)
var-GS18940-1100-36-ASM (hom)
var-GS06985-1100-36-ASM
var-GS18956-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
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Total results: 30

Gene search

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