Total 125 pathogenic variants reported for Blau syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) SNV
Germline
Chr16:50722629 Conflicting classifications of pathogenicity; association not specified
Blau syndrome
Yao syndrome
Condition: not provided
Autoinflammatory syndrome
Regional enteritis
Blau syndrome
Inflammatory bowel disease 1
Yao syndrome
Psoriatic arthritis, susceptibility to
Blau syndrome
Inflammatory bowel disease 1
Criteria Provided
Conflicting Classifications
CA117015 rs_2066845

10 SubmittersRCV000238745RCV000268347RCV000416490RCV000996266RCV002260961RCV002512782RCV001781185RCV002054415

NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp) SNV
Germline
Chr16:50712015 Conflicting classifications of pathogenicity; association not specified
Blau syndrome
Yao syndrome
Crohn disease
Condition: not provided
Regional enteritis
Blau syndrome
Inflammatory bowel disease 1
Autoinflammatory syndrome
Criteria Provided
Conflicting Classifications
CA213414 rs_2066844

9 SubmittersRCV000203217RCV000365422RCV000416493RCV001535441RCV001810832RCV002512783RCV001781186RCV002262557

NM_001370466.1(NOD2):c.920G>A (p.Arg307Gln) SNV
Germline
Chr16:50710912 Pathogenic Blau syndrome
Condition: not provided
Regional enteritis
Blau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA117018 rs_104895461

5 SubmittersRCV000004958RCV000482720RCV002512784

NM_001370466.1(NOD2):c.1324C>T (p.Leu442Phe) SNV
Germline
Chr16:50711316 Pathogenic Blau syndrome No Assertion Criteria Provided
CA117020 rs_104895460

2 SubmittersRCV000004959

NM_001370466.1(NOD2):c.919C>T (p.Arg307Trp) SNV
Germline
Chr16:50710911 Pathogenic Blau syndrome
Condition: not provided
Regional enteritis
Blau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA117022 rs_104895462

8 SubmittersRCV000004960RCV001509512RCV002512785

NM_001370466.1(NOD2):c.2717+158C>T SNV
Germline
Chr16:50722863 Conflicting classifications of pathogenicity Yao syndrome
Blau syndrome
Condition: not provided
Autoinflammatory syndrome
Blau syndrome
Inflammatory bowel disease 1
Inflammatory bowel disease 1
Criteria Provided
Conflicting Classifications
CA117024 rs_5743289

7 SubmittersRCV000416489RCV000416486RCV000960463RCV001029749RCV001454181RCV001781187

NM_001370466.1(NOD2):c.1406A>T (p.His469Leu) SNV
Germline
Chr16:50711398 Pathogenic Blau syndrome No Assertion Criteria Provided
CA117025 rs_104895472

2 SubmittersRCV000416481

NM_001370466.1(NOD2):c.1065C>G (p.Asp355Glu) SNV
Germline
Chr16:50711057 Pathogenic Blau syndrome
Blau syndrome
Regional enteritis
Criteria Provided
Single Submitter
CA117027 rs_104895476

3 SubmittersRCV000416482RCV003764528

NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr) SNV
Germline
Chr16:50711745 Conflicting classifications of pathogenicity Blau syndrome
Yao syndrome
Psoriatic arthritis, susceptibility to
Blau syndrome
Inflammatory bowel disease 1
Inflammatory bowel disease 1
Yao syndrome
Blau syndrome
Inflammatory bowel disease 1
Condition: not provided
Regional enteritis
Blau syndrome
Criteria Provided
Conflicting Classifications
CA117029 rs_104895438

6 SubmittersRCV000328692RCV001280996RCV001781188RCV003224090RCV003421904RCV002512787

NM_001370466.1(NOD2):c.1066G>A (p.Glu356Lys) SNV
Germline
Chr16:50711058 Pathogenic Blau syndrome
Regional enteritis
Blau syndrome
Criteria Provided
Single Submitter
CA117031 rs_104895477

3 SubmittersRCV000004966RCV002512788

NM_001370466.1(NOD2):c.989A>C (p.Asp330Ala) SNV
Germline
Chr16:50710981 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Condition: not provided
Regional enteritis
Blau syndrome
Criteria Provided
Conflicting Classifications
CA150169 rs_104895469

5 SubmittersRCV000084073RCV001781412RCV001811395RCV002513868

NM_001370466.1(NOD2):c.1200G>A (p.Pro400=) SNV
Germline
Chr16:50711192 Conflicting classifications of pathogenicity Blau syndrome
Condition: not provided
Inflammatory bowel disease 1
Autoinflammatory syndrome
Regional enteritis
Blau syndrome
Criteria Provided
Conflicting Classifications
CA150187 rs_104895430

5 SubmittersRCV000265284RCV000584869RCV001781413RCV002262676RCV002514471

NM_001370466.1(NOD2):c.1211C>T (p.Ser404Leu) SNV
Germline
Chr16:50711203 Conflicting classifications of pathogenicity Blau syndrome
Condition: not provided
Inflammatory bowel disease 1
Autoinflammatory syndrome
Regional enteritis
Blau syndrome
NOD2-related disorder
Criteria Provided
Conflicting Classifications
CA150190 rs_104895431

7 SubmittersRCV000084081RCV000954297RCV001781414RCV002262677RCV002514472RCV003974994

NM_001370466.1(NOD2):c.1240G>A (p.Glu414Lys) SNV
Germline
Chr16:50711232 Conflicting classifications of pathogenicity Blau syndrome
Condition: not provided
Inflammatory bowel disease 1
Regional enteritis
Blau syndrome
Criteria Provided
Conflicting Classifications
CA150193 rs_104895432

4 SubmittersRCV000084082RCV000658746RCV001781415RCV002513869

NM_001370466.1(NOD2):c.1403G>A (p.Cys468Tyr) SNV
Unknown
Chr16:50711395 Pathogenic Blau syndrome Criteria Provided
Single Submitter
CA150211 rs_104895478

2 SubmittersRCV000084089

NM_001370466.1(NOD2):c.1428G>A (p.Glu476=) SNV
Germline
Chr16:50711420 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Regional enteritis
Blau syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA150214 rs_104895434

5 SubmittersRCV000313522RCV001781416RCV002513871RCV003407472

NM_001370466.1(NOD2):c.1457T>C (p.Met486Thr) SNV
Germline
Chr16:50711449 Pathogenic/Likely pathogenic Blau syndrome
Regional enteritis
Blau syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA150217 rs_104895473

3 SubmittersRCV000084091RCV002513872

NM_001370466.1(NOD2):c.1678C>T (p.Arg560Cys) SNV
Germline
Chr16:50711670 Pathogenic/Likely pathogenic Blau syndrome
Condition: not provided
Blau syndrome
Regional enteritis
Criteria Provided
Multiple Submitters
No Conflicts
CA150228 rs_104895479

3 SubmittersRCV000084095RCV001092928RCV002514475

NM_001370466.1(NOD2):c.1929C>A (p.Asn643Lys) SNV
Germline
Chr16:50711921 Pathogenic Blau syndrome
Regional enteritis
Blau syndrome
Criteria Provided
Single Submitter
CA150239 rs_104895475

2 SubmittersRCV000084099RCV002513874

NM_001370466.1(NOD2):c.2099C>T (p.Pro700Leu) SNV
Germline
Chr16:50712091 Conflicting classifications of pathogenicity Blau syndrome
Yao syndrome
Inflammatory bowel disease 1
Blau syndrome
Regional enteritis
Blau syndrome
Criteria Provided
Conflicting Classifications
CA150247 rs_104895489

4 SubmittersRCV000084102RCV002505016RCV002513877

NM_001370466.1(NOD2):c.2251G>A (p.Glu751Lys) SNV
Germline
Chr16:50712243 Conflicting classifications of pathogenicity Blau syndrome
not specified
Inflammatory bowel disease 1
Autoinflammatory syndrome
Regional enteritis
Blau syndrome
Criteria Provided
Conflicting Classifications
CA150256 rs_104895443

6 SubmittersRCV000084105RCV000785151RCV001781418RCV002260978RCV002514478

NM_001370466.1(NOD2):c.2290C>T (p.Arg764Trp) SNV
Germline
Chr16:50712282 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Regional enteritis
Blau syndrome
Criteria Provided
Conflicting Classifications
CA150259 rs_104895484

3 SubmittersRCV000084106RCV001781419RCV002513878

NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln) SNV
Germline
Chr16:50712283 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Condition: not provided
Autoinflammatory syndrome
Regional enteritis
Blau syndrome
Criteria Provided
Conflicting Classifications
CA150262 rs_104895464

8 SubmittersRCV000366861RCV001781420RCV001811396RCV002260979RCV002513879

NM_001370466.1(NOD2):c.2465C>T (p.Ala822Val) SNV
Germline
Chr16:50716670 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Autoinflammatory syndrome
Regional enteritis
Blau syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA150277 rs_104895486

5 SubmittersRCV000381377RCV001781423RCV002260983RCV002513882RCV003736574

NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser) SNV
Germline
Chr16:50716899 Conflicting classifications of pathogenicity; association Condition: not provided
Blau syndrome
Inflammatory bowel disease 1
Autoinflammatory syndrome
Regional enteritis
Blau syndrome
Criteria Provided
Conflicting Classifications
CA150280 rs_104895467

9 SubmittersRCV000280478RCV000336827RCV001781424RCV002260984RCV002513883

NM_001370466.1(NOD2):c.2672C>A (p.Ala891Asp) SNV
Germline
Chr16:50722660 Conflicting classifications of pathogenicity Blau syndrome
Condition: not provided
Inflammatory bowel disease 1
Autoinflammatory syndrome
Regional enteritis
Blau syndrome
NOD2-related disorder
Criteria Provided
Conflicting Classifications
CA150302 rs_104895452

9 SubmittersRCV000320195RCV001509517RCV001781426RCV002260986RCV002513885RCV003964950

NM_001370466.1(NOD2):c.2736T>C (p.Ile912=) SNV
Germline
Chr16:50723319 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Regional enteritis
Blau syndrome
Criteria Provided
Conflicting Classifications
CA150308 rs_104895454

3 SubmittersRCV000084125RCV001781427RCV002514481

NM_001370466.1(NOD2):c.332G>A (p.Arg111Gln) SNV
Germline
Chr16:50699827 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Regional enteritis
Blau syndrome
Criteria Provided
Conflicting Classifications
CA150333 rs_104895456

3 SubmittersRCV000383429RCV001781430RCV002513888

NM_001370466.1(NOD2):c.622C>T (p.Arg208Cys) SNV
Germline
Chr16:50710614 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Autoinflammatory syndrome
Regional enteritis
Blau syndrome
Criteria Provided
Conflicting Classifications
CA150339 rs_104895422

4 SubmittersRCV000328605RCV001781431RCV002262680RCV002514488

NM_001370466.1(NOD2):c.-8-7T>A SNV
Germline
Chr16:50699481 Conflicting classifications of pathogenicity not specified
Blau syndrome
Inflammatory bowel disease 1
Condition: not provided
Autoinflammatory syndrome
Regional enteritis
Blau syndrome
Criteria Provided
Conflicting Classifications
CA213421 rs_104895421

7 SubmittersRCV000202800RCV000302918RCV001781432RCV001811398RCV002262681RCV002514489

NM_001370466.1(NOD2):c.662T>G (p.Leu221Arg) SNV
Germline
Chr16:50710654 Conflicting classifications of pathogenicity Blau syndrome
Condition: not provided
Autoinflammatory syndrome
Regional enteritis
Blau syndrome
Criteria Provided
Conflicting Classifications
CA150342 rs_104895423

5 SubmittersRCV000084138RCV001811399RCV002260989RCV002514490

NM_001370466.1(NOD2):c.800C>G (p.Thr267Ser) SNV
Germline
Chr16:50710792 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Condition: not provided
Autoinflammatory syndrome
Regional enteritis
Blau syndrome
Criteria Provided
Conflicting Classifications
CA150348 rs_104895425

5 SubmittersRCV000084140RCV001781433RCV002225284RCV002260990RCV002513889

NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp) SNV
Germline
Chr16:50710842 Conflicting classifications of pathogenicity Condition: not provided
Blau syndrome
Yao syndrome
Inflammatory bowel disease 1
Blau syndrome
Inflammatory bowel disease 1
Regional enteritis
Blau syndrome
Criteria Provided
Conflicting Classifications
CA150354 rs_104895427

7 SubmittersRCV000178335RCV000369785RCV000768031RCV001781434RCV002514491

NM_001370466.1(NOD2):c.1036C>T (p.Arg346Cys) SNV
Germline
Chr16:50711028 Conflicting classifications of pathogenicity Blau syndrome
Condition: not provided
Autoinflammatory syndrome
Regional enteritis
Blau syndrome
Criteria Provided
Conflicting Classifications
CA150374 rs_145293873

9 SubmittersRCV000084160RCV001753488RCV002262685RCV002513891

NM_001370466.1(NOD2):c.*8G>A SNV
Germline
Chr16:50731827 Conflicting classifications of pathogenicity Condition: not provided
Blau syndrome
Inflammatory bowel disease 1
Criteria Provided
Conflicting Classifications
CA230135 rs_199475923

2 SubmittersRCV000089374RCV001115536RCV001781436

NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys) SNV
Germline
Chr16:50712018 Conflicting classifications of pathogenicity not specified
Blau syndrome
Condition: not provided
Inflammatory bowel disease 1
Autoinflammatory syndrome
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
CA202825 rs_5743277

7 SubmittersRCV000178334RCV000368536RCV000488013RCV001781536RCV002262774RCV002517729

NM_001370466.1(NOD2):c.403G>A (p.Val135Ile) SNV
Germline
Chr16:50699898 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Autoinflammatory syndrome
Condition: not provided
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
CA8051288 rs_139571975

4 SubmittersRCV000295019RCV001782791RCV002261055RCV002227151RCV002522853

NM_001370466.1(NOD2):c.552C>T (p.Ala184=) SNV
Germline
Chr16:50707947 Conflicting classifications of pathogenicity Blau syndrome
Condition: not provided
Inflammatory bowel disease 1
Blau syndrome
Regional enteritis
Inborn genetic diseases
Autoinflammatory syndrome
Criteria Provided
Conflicting Classifications
CA8051339 rs_5743269

5 SubmittersRCV000308251RCV001812841RCV001782796RCV002521022RCV003258759RCV002263012

NM_001370466.1(NOD2):c.726G>A (p.Pro242=) SNV
Germline
Chr16:50710718 Conflicting classifications of pathogenicity Blau syndrome
Condition: not provided
Inflammatory bowel disease 1
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
CA8051400 rs_369766454

3 SubmittersRCV000375919RCV000585355RCV001782800RCV002521025

NM_001370466.1(NOD2):c.1900G>C (p.Ala634Pro) SNV
Germline
Chr16:50711892 Conflicting classifications of pathogenicity Blau syndrome
Blau syndrome
Regional enteritis
Inflammatory bowel disease 1
Criteria Provided
Conflicting Classifications
CA8051663 rs_369957746

2 SubmittersRCV000403955RCV002522863RCV001782817

NM_001370466.1(NOD2):c.2408G>A (p.Arg803Gln) SNV
Germline
Chr16:50716613 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
CA8051803 rs_770915641

2 SubmittersRCV000377831RCV001782829RCV002521044

NM_001370466.1(NOD2):c.*462C>A SNV
Germline
Chr16:50732281 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10637860 rs_562972090

2 SubmittersRCV000330041RCV001782844RCV003409499

NM_001370466.1(NOD2):c.193G>A (p.Val65Ile) SNV
Germline
Chr16:50699688 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Condition: not provided
Autoinflammatory syndrome
Blau syndrome
Regional enteritis
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA8051239 rs_187264529

5 SubmittersRCV000268742RCV001782789RCV001812837RCV002261053RCV002521017RCV002521016

NM_001370466.1(NOD2):c.379G>A (p.Asp127Asn) SNV
Germline
Chr16:50699874 Conflicting classifications of pathogenicity Blau syndrome
Condition: not provided
Autoinflammatory syndrome
NOD2-related disorder
Inflammatory bowel disease 1
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
CA8051281 rs_146054564

6 SubmittersRCV000330156RCV001812838RCV002261054RCV003969902RCV001782790RCV002521018

NM_001370466.1(NOD2):c.450G>A (p.Pro150=) SNV
Germline
Chr16:50699945 Conflicting classifications of pathogenicity Blau syndrome
Blau syndrome
Regional enteritis
Inflammatory bowel disease 1
Criteria Provided
Conflicting Classifications
CA8051299 rs_775281342

2 SubmittersRCV000335907RCV002521019RCV001782792

NM_001370466.1(NOD2):c.778C>T (p.His260Tyr) SNV
Germline
Chr16:50710770 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
CA8051412 rs_560242309

2 SubmittersRCV000344671RCV001782803RCV002521028

NM_001370466.1(NOD2):c.794C>T (p.Ala265Val) SNV
Germline
Chr16:50710786 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Autoinflammatory syndrome
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
CA8051417 rs_149338478

4 SubmittersRCV000347725RCV001782805RCV002261058RCV002522857

NM_001370466.1(NOD2):c.2066G>A (p.Arg689His) SNV
Germline
Chr16:50712058 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Autoinflammatory syndrome
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
CA8051707 rs_200035357

3 SubmittersRCV000372158RCV001782822RCV002261062RCV002522866

NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val) SNV
Germline
Chr16:50712175 Conflicting classifications of pathogenicity Blau syndrome
Condition: not provided
Blau syndrome
Yao syndrome
Inflammatory bowel disease 1
Psoriatic arthritis, susceptibility to
Autoinflammatory syndrome
Blau syndrome
Regional enteritis
Inflammatory bowel disease 1
NOD2-related disorder
Criteria Provided
Conflicting Classifications
CA8051743 rs_61747625

9 SubmittersRCV000341511RCV000513725RCV002056495RCV002263017RCV002521040RCV001782824RCV003920348

NM_001370466.1(NOD2):c.2382-9T>A SNV
Germline
Chr16:50716578 Conflicting classifications of pathogenicity Blau syndrome
not specified
Condition: not provided
Inflammatory bowel disease 1
Autoinflammatory syndrome
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
CA8051787 rs_201759367

5 SubmittersRCV000355770RCV001000740RCV001764288RCV001782828RCV002261065RCV002521043

NM_001370466.1(NOD2):c.2623C>A (p.Gln875Lys) SNV
Germline
Chr16:50719998 Conflicting classifications of pathogenicity Blau syndrome
Condition: not provided
Blau syndrome
Regional enteritis
Inflammatory bowel disease 1
Autoinflammatory syndrome
Criteria Provided
Conflicting Classifications
CA8051929 rs_201035873

4 SubmittersRCV000366842RCV003326408RCV002521045RCV001782833RCV002261066

NM_001370466.1(NOD2):c.*89C>T SNV
Germline
Chr16:50731908 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10643727 rs_184545855

2 SubmittersRCV000392805RCV001782837RCV003418000

NM_001370466.1(NOD2):c.485C>T (p.Thr162Met) SNV
Germline
Chr16:50707880 Conflicting classifications of pathogenicity Condition: not provided
Blau syndrome
Inflammatory bowel disease 1
Autoinflammatory syndrome
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
CA8051320 rs_61755182

9 SubmittersRCV000585590RCV001121630RCV001782795RCV002263011RCV002521021

NM_001370466.1(NOD2):c.653C>T (p.Thr218Met) SNV
Germline
Chr16:50710645 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
CA8051383 rs_148516118

2 SubmittersRCV000274697RCV001782798RCV002522855

NM_001370466.1(NOD2):c.1553C>T (p.Pro518Leu) SNV
Germline
Chr16:50711545 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Condition: not provided
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
CA8051599 rs_777949388

3 SubmittersRCV000355684RCV001782812RCV001812846RCV002522859

NM_001370466.1(NOD2):c.1758C>T (p.Phe586=) SNV
Germline
Chr16:50711750 Conflicting classifications of pathogenicity Blau syndrome
Blau syndrome
Regional enteritis
NOD2-related disorder
Inflammatory bowel disease 1
Criteria Provided
Conflicting Classifications
CA8051636 rs_149870902

3 SubmittersRCV000332078RCV002521036RCV003972364RCV001782815

NM_001370466.1(NOD2):c.1922C>T (p.Pro641Leu) SNV
Germline
Chr16:50711914 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Condition: not provided
Autoinflammatory syndrome
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
CA8051668 rs_5743275

4 SubmittersRCV000339948RCV001782818RCV001812848RCV002261060RCV002522864

NM_001370466.1(NOD2):c.1965G>T (p.Leu655Phe) SNV
Germline
Chr16:50711957 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Blau syndrome
Regional enteritis
Condition: not provided
Criteria Provided
Conflicting Classifications
CA8051681 rs_149002807

3 SubmittersRCV000361829RCV001782819RCV002521037RCV001812849

NM_001370466.1(NOD2):c.3013G>A (p.Gly1005Ser) SNV
Germline
Chr16:50731790 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
CA8052076 rs_147874812

2 SubmittersRCV000295535RCV001782836RCV002522869

NM_001370466.1(NOD2):c.59C>T (p.Ser20Leu) SNV
Germline
Chr16:50699554 Conflicting classifications of pathogenicity Blau syndrome
Condition: not provided
Inflammatory bowel disease 1
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
CA8051207 rs_201586544

4 SubmittersRCV000322676RCV001590949RCV001782788RCV002522852

NM_001370466.1(NOD2):c.747G>A (p.Leu249=) SNV
Germline
Chr16:50710739 Conflicting classifications of pathogenicity Blau syndrome
Blau syndrome
Regional enteritis
Inflammatory bowel disease 1
Criteria Provided
Conflicting Classifications
CA8051407 rs_763504952

2 SubmittersRCV000341177RCV002522856RCV001782801

NM_001370466.1(NOD2):c.760C>T (p.Leu254Phe) SNV
Germline
Chr16:50710752 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Inborn genetic diseases
Condition: not provided
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
CA8051409 rs_756943416

4 SubmittersRCV000287407RCV001782802RCV002521027RCV003114482RCV002521026

NM_001370466.1(NOD2):c.785A>G (p.Asn262Ser) SNV
Germline
Chr16:50710777 Conflicting classifications of pathogenicity Blau syndrome
Condition: not provided
Inflammatory bowel disease 1
Autoinflammatory syndrome
Blau syndrome
Regional enteritis
NOD2-related disorder
not specified
Criteria Provided
Conflicting Classifications
CA8051413 rs_5743271

8 SubmittersRCV001121730RCV001702425RCV001782804RCV002263013RCV002521029RCV003972362RCV001726112

NM_001370466.1(NOD2):c.1235G>A (p.Arg412His) SNV
Germline
Chr16:50711227 Conflicting classifications of pathogenicity Blau syndrome
Condition: not provided
NOD2-related disorder
Inflammatory bowel disease 1
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
CA8051519 rs_143110172

4 SubmittersRCV000379610RCV000700656RCV003401335RCV001782808RCV002521032

NM_001370466.1(NOD2):c.1522C>T (p.Leu508=) SNV
Germline
Chr16:50711514 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Condition: not provided
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
CA8051589 rs_145190613

3 SubmittersRCV000405440RCV001782811RCV001812845RCV002522858

NM_001370466.1(NOD2):c.2284C>T (p.Leu762Phe) SNV
Germline
Chr16:50712276 Conflicting classifications of pathogenicity Blau syndrome
Condition: not provided
not specified
Inflammatory bowel disease 1
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
CA8051759 rs_773758818

4 SubmittersRCV000404638RCV001357181RCV003387832RCV001782826RCV002521041

NM_001370466.1(NOD2):c.2631G>A (p.Leu877=) SNV
Germline
Chr16:50720006 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Blau syndrome
Yao syndrome
Inflammatory bowel disease 1
Psoriatic arthritis, susceptibility to
Blau syndrome
Yao syndrome
Inflammatory bowel disease 1
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
CA8051932 rs_142559533

3 SubmittersRCV000272343RCV001782834RCV002056496RCV003224259RCV002521046

NM_001370466.1(NOD2):c.*873C>T SNV
Germline
Chr16:50732692 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10648478 rs_373812846

2 SubmittersRCV000355501RCV001782848RCV003221915

NM_001370466.1(NOD2):c.565+1G>A SNV
Germline
Chr16:50707961 Conflicting classifications of pathogenicity Condition: not provided
Autoinflammatory syndrome
Regional enteritis
Blau syndrome
Criteria Provided
Conflicting Classifications
CA8051341 rs_766614906

4 SubmittersRCV000498440RCV002261094RCV002527136

NM_001370466.1(NOD2):c.233C>T (p.Ala78Val) SNV
Germline
Chr16:50699728 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
CA8051250 rs_202052365

2 SubmittersRCV002261144RCV002529867

NM_001370466.1(NOD2):c.665A>G (p.Glu222Gly) SNV
Germline
Chr16:50710657 Conflicting classifications of pathogenicity Condition: not provided
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
CA8051389 rs_117836686

2 SubmittersRCV001811130RCV002529869

NM_001370466.1(NOD2):c.1109C>T (p.Pro370Leu) SNV
Germline
Chr16:50711101 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Condition: not provided
Autoinflammatory syndrome
Blau syndrome
Regional enteritis
NOD2-related disorder
Criteria Provided
Conflicting Classifications
CA8051488 rs_150078153

5 SubmittersRCV001118317RCV001784213RCV001811129RCV002263872RCV002528894RCV003905719

NM_001370466.1(NOD2):c.2845G>A (p.Ala949Thr) SNV
Germline
Chr16:50725532 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Blau syndrome
Regional enteritis
Autoinflammatory syndrome
Criteria Provided
Conflicting Classifications
CA8052024 rs_148561632

3 SubmittersRCV001120441RCV001784214RCV002529870RCV002261145

NM_001370466.1(NOD2):c.840G>A (p.Thr280=) SNV
Germline
Chr16:50710832 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
CA8051424 rs_376601025

2 SubmittersRCV002261146RCV002529872

NM_001370466.1(NOD2):c.-8-2185C>T SNV
Germline
Chr16:50697303 Conflicting classifications of pathogenicity Condition: not provided
Blau syndrome
Inflammatory bowel disease 1
Autoinflammatory syndrome
NOD2-related disorder
Criteria Provided
Conflicting Classifications
rs_144993105

5 SubmittersRCV000658745RCV001454662RCV002261163RCV003945688

NM_001370466.1(NOD2):c.544C>T (p.Pro182Ser) SNV
Germline
Chr16:50707939 Conflicting classifications of pathogenicity Regional enteritis
Blau syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_143080077

2 SubmittersRCV002533717RCV004026669

NM_001370466.1(NOD2):c.2465+1G>A SNV
Germline
Chr16:50716671 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Regional enteritis
Blau syndrome
Criteria Provided
Conflicting Classifications
rs_373550987

2 SubmittersRCV001115441RCV001784385RCV002535634

NM_001370466.1(NOD2):c.1214C>T (p.Ala405Val) SNV
Germline
Chr16:50711206 Conflicting classifications of pathogenicity Inflammatory bowel disease 1
Autoinflammatory syndrome
Regional enteritis
Blau syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_2076754

4 SubmittersRCV001784430RCV002263996RCV002537241RCV003222135

NM_001370466.1(NOD2):c.1745T>G (p.Phe582Cys) SNV
Germline
Chr16:50711737 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Regional enteritis
Blau syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_777798807

3 SubmittersRCV001115267RCV001784425RCV002534786RCV004028183

NM_001370466.1(NOD2):c.2087C>T (p.Pro696Leu) SNV
Germline
Chr16:50712079 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Condition: not provided
Autoinflammatory syndrome
Inborn genetic diseases
Regional enteritis
Blau syndrome
NOD2-related disorder
Criteria Provided
Conflicting Classifications
rs_201076024

7 SubmittersRCV001115355RCV001784427RCV001529368RCV002261221RCV002534810RCV002537205RCV003892723

NM_001370466.1(NOD2):c.2149C>T (p.Arg717Trp) SNV
Germline
Chr16:50712141 Conflicting classifications of pathogenicity Blau syndrome
Condition: not provided
Inflammatory bowel disease 1
Autoinflammatory syndrome
Regional enteritis
Blau syndrome
Criteria Provided
Conflicting Classifications
rs_140876663

4 SubmittersRCV001115357RCV001509515RCV001784434RCV002261224RCV002538045

NM_001370466.1(NOD2):c.1970G>A (p.Arg657Gln) SNV
Germline
Chr16:50711962 Conflicting classifications of pathogenicity Blau syndrome
Psoriatic arthritis, susceptibility to
Yao syndrome
Inflammatory bowel disease 1
Autoinflammatory syndrome
Blau syndrome
Regional enteritis
Blau syndrome
Yao syndrome
Inflammatory bowel disease 1
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_114664276

4 SubmittersRCV001280997RCV002261241RCV002548271RCV003224498RCV003736944

NM_001370466.1(NOD2):c.258C>T (p.Asp86=) SNV
Germline
Chr16:50699753 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Regional enteritis
Blau syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_138889062

3 SubmittersRCV002261246RCV002548393RCV003736947

NM_001370466.1(NOD2):c.1245C>T (p.Phe415=) SNV
Germline
Chr16:50711237 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Blau syndrome
Regional enteritis
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_151315883

3 SubmittersRCV002264114RCV002547297RCV003424505

NM_001370466.1(NOD2):c.1693G>A (p.Val565Met) SNV
Germline
Chr16:50711685 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Regional enteritis
Blau syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_148683734

4 SubmittersRCV002261247RCV002550531RCV003411923

NM_001370466.1(NOD2):c.1188G>A (p.Val396=) SNV
Germline
Chr16:50711180 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
rs_77966199

2 SubmittersRCV001118318RCV001784477RCV003768777

NM_001370466.1(NOD2):c.-8-2174C>T SNV
Germline
Chr16:50697314 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
rs_149122717

2 SubmittersRCV002261239RCV002544508

NM_001370466.1(NOD2):c.789C>T (p.Asp263=) SNV
Germline
Chr16:50710781 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
rs_749180535

2 SubmittersRCV001121732RCV001784478RCV002545972

NM_001370466.1(NOD2):c.2586A>C (p.Gln862His) SNV
Germline
Chr16:50719961 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_764244331

2 SubmittersRCV001418943RCV002544606

NM_001370466.1(NOD2):c.2641G>T (p.Gly881Cys) SNV
Germline
Chr16:50722629 Conflicting classifications of pathogenicity Condition: not provided
Blau syndrome
Inflammatory bowel disease 1
Regional enteritis
Blau syndrome
Criteria Provided
Conflicting Classifications
rs_2066845

6 SubmittersRCV000996267RCV001118603RCV001784530RCV002549931

NM_001370466.1(NOD2):c.1540C>T (p.Arg514Trp) SNV
Germline
Chr16:50711532 Conflicting classifications of pathogenicity not specified
Regional enteritis
Blau syndrome
Criteria Provided
Conflicting Classifications
rs_576658764

2 SubmittersRCV001001861RCV002549166

NM_001370466.1(NOD2):c.1894G>A (p.Val632Met) SNV
Germline
Chr16:50711886 Conflicting classifications of pathogenicity Inborn genetic diseases
Blau syndrome
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
rs_570167996

3 SubmittersRCV003160562RCV003132207RCV002555870

NM_001370466.1(NOD2):c.2776A>G (p.Lys926Glu) SNV
Germline
Chr16:50723359 Conflicting classifications of pathogenicity Blau syndrome
Regional enteritis
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_375705174

2 SubmittersRCV002553818RCV003405265

NM_001370466.1(NOD2):c.232G>A (p.Ala78Thr) SNV
Germline
Chr16:50699727 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
rs_113706344

2 SubmittersRCV001118091RCV001784654RCV002556510

NM_001370466.1(NOD2):c.247G>A (p.Ala83Thr) SNV
Germline
Chr16:50699742 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
rs_571102620

2 SubmittersRCV001118094RCV001784655RCV003769161

NM_001370466.1(NOD2):c.605C>T (p.Thr202Met) SNV
Germline
Chr16:50710597 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Blau syndrome
Regional enteritis
Inborn genetic diseases
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_529640892

4 SubmittersRCV001118204RCV001784656RCV002558169RCV003346329RCV003328652

NM_001370466.1(NOD2):c.2781C>T (p.Asn927=) SNV
Germline
Chr16:50723364 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
rs_758223679

2 SubmittersRCV001120150RCV001784658RCV002558191

NM_001370466.1(NOD2):c.*183C>T SNV
Germline
Chr16:50732002 Conflicting classifications of pathogenicity Blau syndrome
Inflammatory bowel disease 1
Criteria Provided
Conflicting Classifications
rs_547264433

1 SubmittersRCV001116963RCV001784652

NM_001370466.1(NOD2):c.1118C>T (p.Pro373Leu) SNV
Germline
Chr16:50711110 Conflicting classifications of pathogenicity Inborn genetic diseases
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
rs_779346494

2 SubmittersRCV002563147RCV002563709

NM_001370466.1(NOD2):c.1322G>A (p.Arg441His) SNV
Germline
Chr16:50711314 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
rs_775728252

2 SubmittersRCV002264239RCV002563246

NM_001370466.1(NOD2):c.1340A>G (p.Gln447Arg) SNV
Germline
Chr16:50711332 Conflicting classifications of pathogenicity Blau syndrome
Regional enteritis
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_367819045

2 SubmittersRCV002563255RCV003166457

NM_001370466.1(NOD2):c.133G>A (p.Glu45Lys) SNV
Germline
Chr16:50699628 Conflicting classifications of pathogenicity Blau syndrome
Regional enteritis
Blau syndrome
Criteria Provided
Conflicting Classifications
rs_760069458

2 SubmittersRCV002564001RCV003339557

NM_001370466.1(NOD2):c.2298G>A (p.Val766=) SNV
Germline
Chr16:50712290 Conflicting classifications of pathogenicity Blau syndrome
Regional enteritis
Blau syndrome
Criteria Provided
Conflicting Classifications
rs_534738790

2 SubmittersRCV002227515RCV002543140

NM_001370466.1(NOD2):c.1088A>T (p.Asp363Val) SNV
Germline
Chr16:50711080 Conflicting classifications of pathogenicity Condition: not provided
Autoinflammatory syndrome
Regional enteritis
Blau syndrome
Criteria Provided
Conflicting Classifications
rs_769622495

5 SubmittersRCV001729854RCV002264274RCV002547466

NM_001370466.1(NOD2):c.873A>C (p.Ala291=) SNV
Germline
Chr16:50710865 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Regional enteritis
Blau syndrome
Criteria Provided
Conflicting Classifications
rs_199951979

2 SubmittersRCV002261359RCV002554064

NM_001370466.1(NOD2):c.1182G>A (p.Lys394=) SNV
Germline
Chr16:50711174 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Regional enteritis
Blau syndrome
Criteria Provided
Conflicting Classifications
rs_749142500

2 SubmittersRCV002264308RCV002555106

NM_001370466.1(NOD2):c.2767A>C (p.Met923Leu) SNV
Germline
Chr16:50723350 Conflicting classifications of pathogenicity Regional enteritis
Blau syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
rs_527892258

2 SubmittersRCV002551594RCV002551593

NM_001370466.1(NOD2):c.2304G>C (p.Leu768=) SNV
Germline
Chr16:50712296 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Regional enteritis
Blau syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_1164125645

3 SubmittersRCV002261361RCV002555120RCV003738068

NM_001370466.1(NOD2):c.1462C>T (p.Leu488=) SNV
Germline
Chr16:50711454 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Regional enteritis
Blau syndrome
Criteria Provided
Conflicting Classifications
rs_1318205250

2 SubmittersRCV002261366RCV002561306

NM_001370466.1(NOD2):c.1677G>T (p.Val559=) SNV
Germline
Chr16:50711669 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Regional enteritis
Blau syndrome
Criteria Provided
Conflicting Classifications
rs_369719210

2 SubmittersRCV002261368RCV002564156

NM_001370466.1(NOD2):c.2381+7G>T SNV
Germline
Chr16:50712380 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Regional enteritis
Blau syndrome
Criteria Provided
Conflicting Classifications
rs_202111813

2 SubmittersRCV002261369RCV002568021

NM_001370466.1(NOD2):c.1390A>C (p.Met464Leu) SNV
Germline
Chr16:50711382 Likely pathogenic Blau syndrome No Assertion Criteria Provided
rs_2150810705

1 SubmittersRCV001542792

NM_001370466.1(NOD2):c.1717G>A (p.Glu573Lys) SNV
Germline
Chr16:50711709 Conflicting classifications of pathogenicity Blau syndrome
Regional enteritis
Inflammatory bowel disease 1
Criteria Provided
Conflicting Classifications
rs_1964520477

2 SubmittersRCV002563634RCV003989740

NM_001370466.1(NOD2):c.2828A>G (p.Glu943Gly) SNV
Germline
Chr16:50725515 Conflicting classifications of pathogenicity Regional enteritis
Blau syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
rs_371389581

2 SubmittersRCV002545368RCV003426217

NM_001370466.1(NOD2):c.162C>T (p.Leu54=) SNV
Germline
Chr16:50699657 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Regional enteritis
Blau syndrome
Criteria Provided
Conflicting Classifications
rs_1963835517

2 SubmittersRCV002261457RCV003070654

NM_001370466.1(NOD2):c.2619C>T (p.Ser873=) SNV
Germline
Chr16:50719994 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
rs_759227592

2 SubmittersRCV002261448RCV002551322

NM_001370466.1(NOD2):c.2595C>T (p.Ala865=) SNV
Germline
Chr16:50719970 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
rs_375012324

2 SubmittersRCV002261447RCV002551318

NM_001370466.1(NOD2):c.963A>G (p.Leu321=) SNV
Germline
Chr16:50710955 Conflicting classifications of pathogenicity Inflammatory bowel disease 1
Yao syndrome
Blau syndrome
Psoriatic arthritis, susceptibility to
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
rs_2150808670

2 SubmittersRCV002208760RCV003089103

NM_001370466.1(NOD2):c.2024G>A (p.Arg675Gln) SNV
Germline
Chr16:50712016 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Blau syndrome
Regional enteritis
Criteria Provided
Conflicting Classifications
rs_139104022

2 SubmittersRCV002261977RCV003095915

NM_001370466.1(NOD2):c.2572G>C (p.Ala858Pro) SNV
Germline
Chr16:50719947 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Regional enteritis
Blau syndrome
Criteria Provided
Conflicting Classifications
rs_759456303

2 SubmittersRCV002261979RCV003095917

NM_001370466.1(NOD2):c.-7T>C SNV
Germline
Chr16:50699489 Conflicting classifications of pathogenicity Autoinflammatory syndrome
Regional enteritis
Blau syndrome
Criteria Provided
Conflicting Classifications
rs_371044393

2 SubmittersRCV002261988RCV003095918

NM_001370466.1(NOD2):c.383T>A (p.Leu128Gln) SNV
Germline
Chr16:50699878 Conflicting classifications of pathogenicity Regional enteritis
Blau syndrome
Inborn genetic diseases
Criteria Provided
Conflicting Classifications

2 SubmittersRCV002942228RCV004067158

NM_001370466.1(NOD2):c.1068G>C (p.Glu356Asp) SNV
Germline
Chr16:50711060 Pathogenic Regional enteritis
Blau syndrome
Criteria Provided
Single Submitter

1 SubmittersRCV003780084