Variant | Impact | Inheritance pattern | Summary | Genomes |
---|---|---|---|---|
NOD2 A105T | insufficiently evaluated not reviewed, f=0.000 | unknown |
(2 web hits) | |
NOD2 A140T | insufficiently evaluated none, f=0.008 | unknown |
(12 web hits) | hu3215A7 build 36 substitution variants |
var-GS19129-1100-36-ASM | ||||
hu728FFF build 36 substitution variants | ||||
NOD2 D154N | insufficiently evaluated not reviewed | unknown | CGI sample GS01175-DNA_F02 from PGP sample 95788191 | |
NOD2 R235C | insufficiently evaluated not reviewed | unknown | CGI sample GS01173-DNA_A07 from PGP sample 96240009 | |
NOD2 P268S | insufficiently evaluated none, f=0.197 | unknown |
(182 web hits) | CGI sample GS00253-DNA_E01_200_37 (hom) |
CGI sample GS01669-DNA_C07 from PGP sample 74521372 | ||||
CGI sample GS01173-DNA_C02 from PGP sample 10366372 | ||||
CGI sample GS01173-DNA_F02 from PGP sample 70008981 | ||||
var-GS19700-1100-36-ASM (hom) | ||||
CGI sample GS01175-DNA_B05 from PGP sample 83494370 | ||||
CGI sample GS000005532 | ||||
var-GS12004-1100-36-ASM | ||||
CGI sample GS01175-DNA_A04 from PGP sample 13272228 | ||||
CGI sample GS00253-DNA_A01_200_37 | ||||
var-GS19834-1100-36-ASM | ||||
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom) | ||||
CGI sample GS01669-DNA_H05 from PGP sample 10971581 | ||||
CGI sample GS00253-DNA_B01_200_37 (hom) | ||||
CGI sample GS01175-DNA_D05 from PGP sample 1205491 | ||||
CGI sample GS00253-DNA_F01_200_37 | ||||
var-GS20502-1100-36-ASM | ||||
var-GS06994-1100-36-ASM | ||||
CGI sample GS00253-DNA_H01_200_37 | ||||
var-GS19669-1100-36-ASM | ||||
var-GS20509-1100-36-ASM | ||||
NOD2 N289S | insufficiently evaluated none, f=0.006 | unknown |
(12 web hits) | CGI sample GS01175-DNA_D01 from PGP sample 31286272 |
CGI sample GS01175-DNA_B04 from PGP sample 88590671 | ||||
NOD2 R334Q | insufficiently evaluated pathogenic | unknown |
(119 web hits) | |
NOD2 R334W | insufficiently evaluated pathogenic | unknown |
(166 web hits) | |
NOD2 H352R | insufficiently evaluated not reviewed, f=0.003 | unknown |
(11 web hits) | |
NOD2 D382E | insufficiently evaluated pathogenic | unknown |
(19 web hits) | |
NOD2 E383K | insufficiently evaluated pathogenic | unknown |
(67 web hits) | |
NOD2 S431L | insufficiently evaluated none, f=0.001 | unknown |
(14 web hits) | |
NOD2 L469F | insufficiently evaluated pathogenic | unknown |
(42 web hits) | |
NOD2 H496L | insufficiently evaluated pathogenic | unknown |
(19 web hits) | |
NOD2 L663R | insufficiently evaluated not reviewed | unknown | CGI sample GS00253-DNA_A01_200_37 | |
NOD2 R702W | uncertain pathogenic, f=0.033 | other | NOD2 encodes a protein involved in bacterial recognition. This variant is associated with Crohn’s disease in European populations, but not in Korean or Japanese groups. (1220 web hits) | CGI sample GS00253-DNA_E01_200_37 |
CGI sample GS01175-DNA_A04 from PGP sample 13272228 | ||||
var-GS19834-1100-36-ASM | ||||
CGI sample GS01669-DNA_D02 from PGP sample 27316983 | ||||
CGI sample GS01175-DNA_D05 from PGP sample 1205491 | ||||
var-GS20509-1100-36-ASM | ||||
NOD2 R708H | insufficiently evaluated not reviewed, f=0.008 | unknown | CGI sample GS00253-DNA_B02_200_37 | |
NOD2 A725G | insufficiently evaluated not reviewed, f=0.013 | unknown | var-GS19703-1100-36-ASM | |
var-GS18502-1100-36-ASM | ||||
var-GS18505-1100-36-ASM | ||||
var-GS18508-1100-36-ASM | ||||
NOD2 A755V | insufficiently evaluated not reviewed | unknown | CGI sample GS01173-DNA_G02 from PGP sample 67180598 | |
NOD2 R790Q | insufficiently evaluated not reviewed, f=0.011 | unknown |
(4 web hits) | |
NOD2 R790W | insufficiently evaluated pathogenic | recessive | This variant was seen as a compound heterozygote with p.Leu1007fs in a patient with severe Crohn’s disease. (9 web hits) | |
NOD2 V793M | insufficiently evaluated none, f=0.001 | unknown |
(15 web hits) | |
NOD2 G908R | uncertain pathogenic, f=0.011 | undefined | This variant is associated with an increased susceptibility to Crohn’s disease and other inflammatory bowel diseases (IBD). Assuming an overall prevalence of 0.5% for IBD, this variant implies an increased attributable risk of 2% (5x increased risk, for an overall risk of 2.5% of IBD for people with this variant). (1160 web hits) | |
NOD2 V955I | insufficiently evaluated none, f=0.068 | unknown |
(22 web hits) | hu34D5B9 exome |
CGI sample GS01173-DNA_F02 from PGP sample 70008981 | ||||
var-GS07357-1100-36-ASM | ||||
CGI sample GS000005532 | ||||
var-GS19649-1100-36-ASM | ||||
var-GS20502-1100-36-ASM | ||||
CGI sample GS01175-DNA_D01 from PGP sample 31286272 | ||||
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom) | ||||
CGI sample GS01173-DNA_B02 from PGP sample 94378523 | ||||
var-GS20509-1100-36-ASM | ||||
NOD2 A1006P | insufficiently evaluated pathogenic | other | GWAS associating with Crohn’s disease | |
NOD2 L1007Shift | insufficiently evaluated not reviewed, f=0.008 | unknown | Three Nod2 variants, G908R, R702W, and a frameshift deletion mutation at L1007 (L1007fsinsC), have been linked to CD development. Although the precise mechanisms by which Nod2 promotes disease remain unclear, CD-associated human Nod2 variants exhibit reduced capacity to activate NF-κB following MDP stimulation, suggesting that the loss of Nod2 activation promotes CD. | var-GS19700-1100-36-ASM |
CGI sample GS01175-DNA_B05 from PGP sample 83494370 | ||||
Page: 1 2 3 Total results: 26 |