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Links from MedGen

Items: 24

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr16:50744866
GRCh38:
Chr16:50710955
NOD2Regional enteritis, Blau syndrome, Inflammatory bowel disease 1,
Yao syndrome, Blau syndrome, Psoriatic arthritis, susceptibility to
Conflicting interpretations of pathogenicity
(Oct 5, 2022)		criteria provided, conflicting interpretations
2.
GRCh37:
Chr16:50744940
GRCh38:
Chr16:50711029
NOD2R346H, R373HRegional enteritis, Blau syndrome, Inflammatory bowel disease 1,
Yao syndrome, Blau syndrome		Uncertain significance
(Sep 7, 2022)		criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr16:50745746
GRCh38:
Chr16:50711835
NOD2R615G, R642GRegional enteritis, Blau syndrome, Yao syndrome,
Inflammatory bowel disease 1, Blau syndrome		Uncertain significance
(Jan 11, 2022)		criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr16:50746019
GRCh38:
Chr16:50712108
NOD2V706M, V733MRegional enteritis, Blau syndrome, Blau syndrome,
Psoriatic arthritis, susceptibility to, Yao syndrome, Inflammatory bowel disease 1,
Blau syndrome, Yao syndrome, Inflammatory bowel disease 1
Uncertain significance
(Aug 31, 2022)		criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr16:50744990
GRCh38:
Chr16:50711079
NOD2D363N, D390NRegional enteritis, Blau syndrome, Yao syndrome,
Inflammatory bowel disease 1, Blau syndrome		Uncertain significance
(Oct 8, 2021)		criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr16:50733636
GRCh38:
Chr16:50699725
NOD2I104T, I77Tnot provided, Blau syndrome, Regional enteritis,
Inflammatory bowel disease 1, Blau syndrome, Yao syndrome
Uncertain significance
(Jul 6, 2022)		criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr16:50744652
GRCh38:
Chr16:50710741
NOD2G250D, G277DYao syndromeUncertain significance
(Jan 27, 2020)		criteria provided, single submitter
8.
GRCh37:
Chr16:50745609
GRCh38:
Chr16:50711698
NOD2T569M, T596MRegional enteritis, Blau syndrome, Blau syndrome,
Inflammatory bowel disease 1, Yao syndrome, Blau syndrome
Uncertain significance
(Aug 24, 2021)		criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr16:50745873
GRCh38:
Chr16:50711962
NOD2R657Q, R684QAutoinflammatory syndrome, Yao syndrome, Blau syndrome,
Psoriatic arthritis, susceptibility to, Inflammatory bowel disease 1, Blau syndrome,
Regional enteritis, Yao syndrome, Blau syndrome,
Inflammatory bowel disease 1		Conflicting interpretations of pathogenicity
(Oct 24, 2022)		criteria provided, conflicting interpretations
10.
GRCh37:
Chr16:50746198
GRCh38:
Chr16:50712287
NOD2Blau syndrome, Regional enteritis, Inflammatory bowel disease 1,
Blau syndrome, Yao syndrome		Likely benign
(Nov 2, 2022)		criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr16:50745432
GRCh38:
Chr16:50711521
NOD2P537H, P510HInflammatory bowel disease 1, Yao syndrome, Blau syndrome
Uncertain significance
(Dec 22, 2021)		criteria provided, single submitter
12.
GRCh37:
Chr16:50733428
GRCh38:
Chr16:50699517
NOD2Q35*, Q8*Yao syndrome, Blau syndrome, Regional enteritis,
Blau syndrome		Uncertain significance
(Apr 4, 2022)		criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr16:50753917
GRCh38:
Chr16:50720006
NOD2Inflammatory bowel disease 1, Regional enteritis, Blau syndrome,
Yao syndrome, Inflammatory bowel disease 1, Psoriatic arthritis, susceptibility to,
Blau syndrome, Blau syndrome, Yao syndrome,
Inflammatory bowel disease 1, Blau syndrome ...see more		Conflicting interpretations of pathogenicity
(Aug 23, 2022)		criteria provided, conflicting interpretations
14.
GRCh37:
Chr16:50746086
GRCh38:
Chr16:50712175
NOD2A755V, A728VAutoinflammatory syndrome, Inflammatory bowel disease 1, Yao syndrome,
Inflammatory bowel disease 1, Psoriatic arthritis, susceptibility to, Blau syndrome,
Regional enteritis, Blau syndrome, not provided,
Blau syndrome		Conflicting interpretations of pathogenicity
(Jun 1, 2023)		criteria provided, conflicting interpretations
15.
GRCh37:
Chr16:50745996
GRCh38:
Chr16:50712085
NOD2A725G, A698GInflammatory bowel disease 1, Regional enteritis, Blau syndrome,
Autoinflammatory syndrome, not provided, Blau syndrome,
Yao syndrome, Inflammatory bowel disease 1, Blau syndrome
Benign/Likely benign
(Dec 1, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr16:50744753
GRCh38:
Chr16:50710842
NOD2R311W, R284WInflammatory bowel disease 1, Blau syndrome, Regional enteritis,
Blau syndrome, not provided, Yao syndrome,
Blau syndrome, Inflammatory bowel disease 1		Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
17.
GRCh37:
Chr16:50757276
GRCh38:
Chr16:50723365
NOD2V955I, V928IInflammatory bowel disease 1, Yao syndrome, Blau syndrome,
Psoriatic arthritis, susceptibility to, Inflammatory bowel disease 1, Blau syndrome,
Regional enteritis, Autoinflammatory syndrome, not provided,
Blau syndrome		Benign/Likely benign
(Nov 29, 2022)		criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr16:50746002
GRCh38:
Chr16:50712091
NOD2P727L, P700LBlau syndrome, Regional enteritis, Yao syndrome,
Blau syndrome, Inflammatory bowel disease 1		Conflicting interpretations of pathogenicity
(Oct 25, 2022)		criteria provided, conflicting interpretations
19.
GRCh37:
Chr16:50745063
GRCh38:
Chr16:50711152
NOD2N414S, N387SBlau syndrome, Regional enteritis, Yao syndrome,
Blau syndrome, Inflammatory bowel disease 1		Uncertain significance
(Apr 11, 2022)		criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr16:50745656
GRCh38:
Chr16:50711745
NOD2A612T, A585TBlau syndrome, Regional enteritis, Yao syndrome,
Psoriatic arthritis, susceptibility to, Blau syndrome, Inflammatory bowel disease 1,
Inflammatory bowel disease 1, not provided, Blau syndrome,
Yao syndrome, Blau syndromeInflammatory bowel disease 1,
...see more		Conflicting interpretations of pathogenicity
(Sep 13, 2022)		criteria provided, conflicting interpretations
21.
GRCh37:
Chr16:50756774
GRCh38:
Chr16:50722863
NOD2Yao syndrome, Autoinflammatory syndrome, Blau syndrome,
Inflammatory bowel disease 1, not provided		Conflicting interpretations of pathogenicity
(Nov 21, 2020)		criteria provided, conflicting interpretations
22.
GRCh37:
Chr16:50745926
GRCh38:
Chr16:50712015
NOD2R702W, R675WYao syndrome, Blau syndrome, Regional enteritis,
Autoinflammatory syndrome, Inflammatory bowel disease 1, not provided,
not specified, Blau syndrome		Conflicting interpretations of pathogenicity; association
(Nov 3, 2022)		criteria provided, conflicting interpretations
23.
GRCh37:
Chr16:50756540
GRCh38:
Chr16:50722629
NOD2G908R, G881RBlau syndrome, Regional enteritis, Autoinflammatory syndrome,
Yao syndrome, Psoriatic arthritis, susceptibility to, Blau syndrome,
Inflammatory bowel disease 1, Inflammatory bowel disease 1, not provided,
not specified, Blau syndrome ...see more		Conflicting interpretations of pathogenicity; association
(Nov 3, 2022)		criteria provided, conflicting interpretations
24.
GRCh37:
Chr16:50763778-50763779
GRCh38:
Chr16:50729867-50729868
CYLD-AS1, NOD2L980fs, L1007fsBlau syndrome, Regional enteritis, Autoinflammatory syndrome,
Crohn disease, not provided, Blau syndrome,
Yao syndrome, Blau syndrome, Inflammatory bowel disease 1
Conflicting interpretations of pathogenicity; association
(Nov 3, 2022)		criteria provided, conflicting interpretations
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