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 Inflammatory bowel disease 1 Psoriatic arthritis, susceptibility to Blau syndrome Inflammatory bowel disease 1 Yao syndrome Blau syndrome Regional enteritis Autoinflammatory syndrome Blau syndrome Inflammatory bowel disease 1 Yao syndrome	Criteria Provided Conflicting Classifications	CA117015	rs_2066845	11 SubmittersRCV000238745 RCV000268347 RCV000416490 RCV000996266 RCV001781185 RCV002054415 RCV002512782 RCV002260961 RCV005394119
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp)	SNV Germline	Chr16:50712015	Conflicting classifications of pathogenicity; association	not specified Blau syndrome Yao syndrome Inflammatory bowel disease 1 Crohn disease Condition: not provided Autoinflammatory syndrome Blau syndrome Regional enteritis Blau syndrome Inflammatory bowel disease 1 Yao syndrome	Criteria Provided Conflicting Classifications	CA213414	rs_2066844	14 SubmittersRCV000203217 RCV000365422 RCV000416493 RCV001781186 RCV001535441 RCV001810832 RCV002262557 RCV002512783 RCV005394120
NM_001370466.1(NOD2):c.920G>A (p.Arg307Gln)	SNV Germline	Chr16:50710912	Pathogenic	Blau syndrome Condition: not provided Blau syndrome Regional enteritis	Criteria Provided Multiple Submitters No Conflicts	CA117018	rs_104895461	6 SubmittersRCV000004958 RCV000482720 RCV002512784
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 Blau syndrome Regional enteritis	Criteria Provided Multiple Submitters No Conflicts	CA117022	rs_104895462	9 SubmittersRCV000004960 RCV001509512 RCV002512785
NM_001370466.1(NOD2):c.2717+158C>T	SNV Germline	Chr16:50722863	Conflicting classifications of pathogenicity	Blau syndrome Yao syndrome Condition: not provided Autoinflammatory syndrome Inflammatory bowel disease 1 Blau syndrome Regional enteritis	Criteria Provided Conflicting Classifications	CA117024	rs_5743289	9 SubmittersRCV000416486 RCV000416489 RCV000960463 RCV001029749 RCV001781187 RCV005208820
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 SubmittersRCV000416482 RCV003764528
NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr)	SNV Germline	Chr16:50711745	Conflicting classifications of pathogenicity	Blau syndrome Inflammatory bowel disease 1 Psoriatic arthritis, susceptibility to Blau syndrome Inflammatory bowel disease 1 Yao syndrome Blau syndrome Regional enteritis Condition: not provided	Criteria Provided Conflicting Classifications	CA117029	rs_104895438	6 SubmittersRCV000328692 RCV001781188 RCV001280996 RCV002512787 RCV003421904
NM_001370466.1(NOD2):c.1066G>A (p.Glu356Lys)	SNV Germline	Chr16:50711058	Pathogenic	Blau syndrome Blau syndrome Regional enteritis	Criteria Provided Single Submitter	CA117031	rs_104895477	3 SubmittersRCV000004966 RCV002512788
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 SubmittersRCV000084073 RCV001781412 RCV001811395 RCV002513868
NM_001370466.1(NOD2):c.1090C>T (p.Arg364Cys)	SNV Germline	Chr16:50711082	Conflicting classifications of pathogenicity	Blau syndrome Regional enteritis Blau syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA150181	rs_104895481	4 SubmittersRCV000084078 RCV002514469 RCV006449987 RCV006263660
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 Blau syndrome Regional enteritis NOD2-related disorder not specified	Criteria Provided Conflicting Classifications	CA150187	rs_104895430	7 SubmittersRCV000265284 RCV000584869 RCV001781413 RCV002262676 RCV002514471 RCV004748571 RCV006456693
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 not specified	Criteria Provided Conflicting Classifications	CA150190	rs_104895431	9 SubmittersRCV000084081 RCV000954297 RCV001781414 RCV002262677 RCV002514472 RCV003974994 RCV006451924
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 SubmittersRCV000084082 RCV000658746 RCV001781415 RCV002513869
NM_001370466.1(NOD2):c.1361G>A (p.Gly454Asp)	SNV Germline	Chr16:50711353	Pathogenic	Blau syndrome Blau syndrome Regional enteritis	Criteria Provided Single Submitter	CA150205	rs_104895494	2 SubmittersRCV000084087 RCV005222745
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 SubmittersRCV000313522 RCV001781416 RCV002513871 RCV003407472
NM_001370466.1(NOD2):c.1457T>C (p.Met486Thr)	SNV Germline	Chr16:50711449	Pathogenic/Likely pathogenic	Blau syndrome Regional enteritis Blau syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA150217	rs_104895473	4 SubmittersRCV000084091 RCV002513872 RCV004724801
NM_001370466.1(NOD2):c.1678C>T (p.Arg560Cys)	SNV Germline	Chr16:50711670	Pathogenic/Likely pathogenic	Blau syndrome Condition: not provided Regional enteritis Blau syndrome	Criteria Provided Multiple Submitters No Conflicts	CA150228	rs_104895479	4 SubmittersRCV000084095 RCV001092928 RCV002514475
NM_001370466.1(NOD2):c.1929C>A (p.Asn643Lys)	SNV Germline	Chr16:50711921	Pathogenic	Blau syndrome Blau syndrome Regional enteritis	Criteria Provided Single Submitter	CA150239	rs_104895475	2 SubmittersRCV000084099 RCV002513874
NM_001370466.1(NOD2):c.2099C>T (p.Pro700Leu)	SNV Germline	Chr16:50712091	Conflicting classifications of pathogenicity	Blau syndrome Yao syndrome Blau syndrome Inflammatory bowel disease 1 Regional enteritis Blau syndrome	Criteria Provided Conflicting Classifications	CA150247	rs_104895489	4 SubmittersRCV000084102 RCV002505016 RCV002513877
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 Condition: not provided	Criteria Provided Conflicting Classifications	CA150256	rs_104895443	8 SubmittersRCV000084105 RCV000785151 RCV001781418 RCV002260978 RCV002514478 RCV005865236
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 not specified	Criteria Provided Conflicting Classifications	CA150259	rs_104895484	4 SubmittersRCV000084106 RCV001781419 RCV002513878 RCV006456694
NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln)	SNV Germline	Chr16:50712283	Conflicting classifications of pathogenicity	Blau syndrome Inflammatory bowel disease 1 Autoinflammatory syndrome Condition: not provided Regional enteritis Blau syndrome Yao syndrome Blau syndrome Inflammatory bowel disease 1 not specified	Criteria Provided Conflicting Classifications	CA150262	rs_104895464	10 SubmittersRCV000366861 RCV001781420 RCV002260979 RCV001811396 RCV002513879 RCV005016372 RCV006456695
NM_001370466.1(NOD2):c.2465C>T (p.Ala822Val)	SNV Germline	Chr16:50716670	Conflicting classifications of pathogenicity	Blau syndrome Inflammatory bowel disease 1 Regional enteritis Blau syndrome Autoinflammatory syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA150277	rs_104895486	5 SubmittersRCV000381377 RCV001781423 RCV002513882 RCV002260983 RCV003736574
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 Yao syndrome Blau syndrome Inflammatory bowel disease 1	Criteria Provided Conflicting Classifications	CA150280	rs_104895467	10 SubmittersRCV000280478 RCV000336827 RCV001781424 RCV002260984 RCV002513883 RCV005394356
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	10 SubmittersRCV000320195 RCV001509517 RCV001781426 RCV002260986 RCV002513885 RCV003964950
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 SubmittersRCV000084125 RCV001781427 RCV002514481
NM_001370466.1(NOD2):c.2852G>A (p.Gly951Glu)	SNV Germline	Chr16:50725539	Conflicting classifications of pathogenicity	Blau syndrome Condition: not provided Inflammatory bowel disease 1 Regional enteritis Blau syndrome Yao syndrome Blau syndrome Inflammatory bowel disease 1	Criteria Provided Conflicting Classifications	CA150320	rs_104895457	7 SubmittersRCV000084129 RCV001753487 RCV001781429 RCV002514484 RCV005394357
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 Condition: not provided Yao syndrome Blau syndrome Inflammatory bowel disease 1	Criteria Provided Conflicting Classifications	CA150333	rs_104895456	7 SubmittersRCV000383429 RCV001781430 RCV002513888 RCV005222746 RCV005016373
NM_001370466.1(NOD2):c.622C>T (p.Arg208Cys)	SNV Germline	Chr16:50710614	Conflicting classifications of pathogenicity	Blau syndrome Autoinflammatory syndrome Inflammatory bowel disease 1 Regional enteritis Blau syndrome Yao syndrome Blau syndrome Inflammatory bowel disease 1 NOD2-related disorder	Criteria Provided Conflicting Classifications	CA150339	rs_104895422	6 SubmittersRCV000328605 RCV002262680 RCV001781431 RCV002514488 RCV005394358 RCV004748573
NM_001370466.1(NOD2):c.-8-7T>A	SNV Germline	Chr16:50699481	Conflicting classifications of pathogenicity	not specified Blau syndrome Autoinflammatory syndrome Inflammatory bowel disease 1 Condition: not provided Regional enteritis Blau syndrome Ovarian serous cystadenocarcinoma	Criteria Provided Conflicting Classifications	CA213421	rs_104895421	9 SubmittersRCV000202800 RCV000302918 RCV002262681 RCV001781432 RCV001811398 RCV002514489 RCV005887700
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	6 SubmittersRCV000084138 RCV001811399 RCV002260989 RCV002514490
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 Regional enteritis Blau syndrome Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA150348	rs_104895425	7 SubmittersRCV000084140 RCV001781433 RCV002225284 RCV002513889 RCV002260990
NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp)	SNV Germline	Chr16:50710842	Conflicting classifications of pathogenicity	Condition: not provided Blau syndrome Yao syndrome Blau syndrome Inflammatory bowel disease 1 Inflammatory bowel disease 1 Regional enteritis Blau syndrome NOD2-related disorder	Criteria Provided Conflicting Classifications	CA150354	rs_104895427	8 SubmittersRCV000178335 RCV000369785 RCV000768031 RCV001781434 RCV002514491 RCV004748574
NM_001370466.1(NOD2):c.1036C>T (p.Arg346Cys)	SNV Germline	Chr16:50711028	Conflicting classifications of pathogenicity	Blau syndrome Condition: not provided Regional enteritis Blau syndrome Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA150374	rs_145293873	9 SubmittersRCV000084160 RCV001753488 RCV002513891 RCV002262685
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 SubmittersRCV000089374 RCV001115536 RCV001781436
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 Blau syndrome Regional enteritis Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA202825	rs_5743277	8 SubmittersRCV000178334 RCV000368536 RCV000488013 RCV001781536 RCV002517729 RCV002262774
NM_001370466.1(NOD2):c.403G>A (p.Val135Ile)	SNV Germline	Chr16:50699898	Conflicting classifications of pathogenicity	Blau syndrome Inflammatory bowel disease 1 Condition: not provided Autoinflammatory syndrome Regional enteritis Blau syndrome	Criteria Provided Conflicting Classifications	CA8051288	rs_139571975	4 SubmittersRCV000295019 RCV001782791 RCV002227151 RCV002261055 RCV002522853
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 Autoinflammatory syndrome Regional enteritis Blau syndrome Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA8051339	rs_5743269	7 SubmittersRCV000308251 RCV001812841 RCV001782796 RCV002263012 RCV002521022 RCV003258759 RCV005407051
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 SubmittersRCV000375919 RCV000585355 RCV001782800 RCV002521025
NM_001370466.1(NOD2):c.1900G>C (p.Ala634Pro)	SNV Germline	Chr16:50711892	Conflicting classifications of pathogenicity	Blau syndrome Inflammatory bowel disease 1 Regional enteritis Blau syndrome	Criteria Provided Conflicting Classifications	CA8051663	rs_369957746	2 SubmittersRCV000403955 RCV001782817 RCV002522863
NM_001370466.1(NOD2):c.2408G>A (p.Arg803Gln)	SNV Germline	Chr16:50716613	Conflicting classifications of pathogenicity	Blau syndrome Inflammatory bowel disease 1 Regional enteritis Blau syndrome	Criteria Provided Conflicting Classifications	CA8051803	rs_770915641	2 SubmittersRCV000377831 RCV001782829 RCV002521044
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 SubmittersRCV000330041 RCV001782844 RCV003409499
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 Regional enteritis Blau syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8051239	rs_187264529	5 SubmittersRCV000268742 RCV001782789 RCV001812837 RCV002261053 RCV002521017 RCV002521016
NM_001370466.1(NOD2):c.379G>A (p.Asp127Asn)	SNV Germline	Chr16:50699874	Conflicting classifications of pathogenicity	Blau syndrome Inflammatory bowel disease 1 Condition: not provided Autoinflammatory syndrome Regional enteritis Blau syndrome NOD2-related disorder not specified	Criteria Provided Conflicting Classifications	CA8051281	rs_146054564	8 SubmittersRCV000330156 RCV001782790 RCV001812838 RCV002261054 RCV002521018 RCV003969902 RCV005238890
NM_001370466.1(NOD2):c.450G>A (p.Pro150=)	SNV Germline	Chr16:50699945	Conflicting classifications of pathogenicity	Blau syndrome Inflammatory bowel disease 1 Regional enteritis Blau syndrome	Criteria Provided Conflicting Classifications	CA8051299	rs_775281342	2 SubmittersRCV000335907 RCV001782792 RCV002521019
NM_001370466.1(NOD2):c.778C>T (p.His260Tyr)	SNV Germline	Chr16:50710770	Conflicting classifications of pathogenicity	Blau syndrome Inflammatory bowel disease 1 Regional enteritis Blau syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8051412	rs_560242309	3 SubmittersRCV000344671 RCV001782803 RCV002521028 RCV006555832
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 Regional enteritis Blau syndrome	Criteria Provided Conflicting Classifications	CA8051417	rs_149338478	4 SubmittersRCV000347725 RCV001782805 RCV002261058 RCV002522857
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 Regional enteritis Blau syndrome	Criteria Provided Conflicting Classifications	CA8051707	rs_200035357	3 SubmittersRCV000372158 RCV001782822 RCV002261062 RCV002522866
NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val)	SNV Germline	Chr16:50712175	Conflicting classifications of pathogenicity	Blau syndrome Condition: not provided Inflammatory bowel disease 1 Psoriatic arthritis, susceptibility to Blau syndrome Yao syndrome Inflammatory bowel disease 1 Regional enteritis Blau syndrome Autoinflammatory syndrome NOD2-related disorder not specified	Criteria Provided Conflicting Classifications	CA8051743	rs_61747625	11 SubmittersRCV000341511 RCV000513725 RCV001782824 RCV002056495 RCV002521040 RCV002263017 RCV003920348 RCV006452590
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 Regional enteritis Blau syndrome Thymoma	Criteria Provided Conflicting Classifications	CA8051787	rs_201759367	6 SubmittersRCV000355770 RCV001000740 RCV001764288 RCV001782828 RCV002261065 RCV002521043 RCV005894484
NM_001370466.1(NOD2):c.2623C>A (p.Gln875Lys)	SNV Germline	Chr16:50719998	Conflicting classifications of pathogenicity	Blau syndrome Inflammatory bowel disease 1 Autoinflammatory syndrome Regional enteritis Blau syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8051929	rs_201035873	4 SubmittersRCV000366842 RCV001782833 RCV002261066 RCV002521045 RCV003326408
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 SubmittersRCV000392805 RCV001782837 RCV003418000
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 Regional enteritis Blau syndrome not specified	Criteria Provided Conflicting Classifications	CA8051320	rs_61755182	11 SubmittersRCV000585590 RCV001121630 RCV001782795 RCV002263011 RCV002521021 RCV006458249
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 NOD2-related disorder	Criteria Provided Conflicting Classifications	CA8051383	rs_148516118	3 SubmittersRCV000274697 RCV001782798 RCV002522855 RCV004748728
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 Regional enteritis Blau syndrome	Criteria Provided Conflicting Classifications	CA8051599	rs_777949388	3 SubmittersRCV000355684 RCV001782812 RCV001812846 RCV002522859
NM_001370466.1(NOD2):c.1758C>T (p.Phe586=)	SNV Germline	Chr16:50711750	Conflicting classifications of pathogenicity	Blau syndrome Inflammatory bowel disease 1 Regional enteritis Blau syndrome NOD2-related disorder	Criteria Provided Conflicting Classifications	CA8051636	rs_149870902	3 SubmittersRCV000332078 RCV001782815 RCV002521036 RCV003972364
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 Regional enteritis Blau syndrome not specified	Criteria Provided Conflicting Classifications	CA8051668	rs_5743275	5 SubmittersRCV000339948 RCV001782818 RCV001812848 RCV002261060 RCV002522864 RCV005238891
NM_001370466.1(NOD2):c.1965G>T (p.Leu655Phe)	SNV Germline	Chr16:50711957	Conflicting classifications of pathogenicity	Blau syndrome Inflammatory bowel disease 1 Condition: not provided Regional enteritis Blau syndrome not specified	Criteria Provided Conflicting Classifications	CA8051681	rs_149002807	6 SubmittersRCV000361829 RCV001782819 RCV001812849 RCV002521037 RCV006268731
NM_001370466.1(NOD2):c.3013G>A (p.Gly1005Ser)	SNV Germline	Chr16:50731790	Conflicting classifications of pathogenicity	Blau syndrome Inflammatory bowel disease 1 Regional enteritis Blau syndrome	Criteria Provided Conflicting Classifications	CA8052076	rs_147874812	2 SubmittersRCV000295535 RCV001782836 RCV002522869
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 Regional enteritis Blau syndrome Blau syndrome Yao syndrome Inflammatory bowel disease 1	Criteria Provided Conflicting Classifications	CA8051207	rs_201586544	6 SubmittersRCV000322676 RCV001590949 RCV001782788 RCV002522852 RCV005016705
NM_001370466.1(NOD2):c.747G>A (p.Leu249=)	SNV Germline	Chr16:50710739	Conflicting classifications of pathogenicity	Blau syndrome Inflammatory bowel disease 1 Regional enteritis Blau syndrome	Criteria Provided Conflicting Classifications	CA8051407	rs_763504952	2 SubmittersRCV000341177 RCV001782801 RCV002522856
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 Regional enteritis Blau syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8051409	rs_756943416	4 SubmittersRCV000287407 RCV001782802 RCV002521027 RCV002521026 RCV003114482
NM_001370466.1(NOD2):c.785A>G (p.Asn262Ser)	SNV Germline	Chr16:50710777	Conflicting classifications of pathogenicity	Blau syndrome Condition: not provided not specified Inflammatory bowel disease 1 Autoinflammatory syndrome Regional enteritis Blau syndrome NOD2-related disorder	Criteria Provided Conflicting Classifications	CA8051413	rs_5743271	9 SubmittersRCV001121730 RCV001702425 RCV001726112 RCV001782804 RCV002263013 RCV002521029 RCV003972362
NM_001370466.1(NOD2):c.1235G>A (p.Arg412His)	SNV Germline	Chr16:50711227	Conflicting classifications of pathogenicity	Blau syndrome Condition: not provided Inflammatory bowel disease 1 Regional enteritis Blau syndrome NOD2-related disorder	Criteria Provided Conflicting Classifications	CA8051519	rs_143110172	5 SubmittersRCV000379610 RCV000700656 RCV001782808 RCV002521032 RCV003401335
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 Regional enteritis Blau syndrome	Criteria Provided Conflicting Classifications	CA8051589	rs_145190613	3 SubmittersRCV000405440 RCV001782811 RCV001812845 RCV002522858
NM_001370466.1(NOD2):c.2284C>T (p.Leu762Phe)	SNV Germline	Chr16:50712276	Conflicting classifications of pathogenicity	Blau syndrome Condition: not provided Inflammatory bowel disease 1 Regional enteritis Blau syndrome not specified	Criteria Provided Conflicting Classifications	CA8051759	rs_773758818	4 SubmittersRCV000404638 RCV001357181 RCV001782826 RCV002521041 RCV003387832
NM_001370466.1(NOD2):c.2631G>A (p.Leu877=)	SNV Germline	Chr16:50720006	Conflicting classifications of pathogenicity	Blau syndrome Inflammatory bowel disease 1 Psoriatic arthritis, susceptibility to Blau syndrome Yao syndrome Inflammatory bowel disease 1 Blau syndrome Yao syndrome Inflammatory bowel disease 1 Regional enteritis Blau syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8051932	rs_142559533	4 SubmittersRCV000272343 RCV001782834 RCV002056496 RCV003224259 RCV002521046 RCV005256597
NM_001370466.1(NOD2):c.2659G>A (p.Glu887Lys)	SNV Germline	Chr16:50722647	Conflicting classifications of pathogenicity	Blau syndrome Inflammatory bowel disease 1 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8051959	rs_758913334	2 SubmittersRCV000323493 RCV001782835 RCV005452980
NM_001370466.1(NOD2):c.*873C>T	SNV Germline	Chr16:50732692	Conflicting classifications of pathogenicity	Blau syndrome Inflammatory bowel disease 1 Condition: not provided Dilated cardiomyopathy 1G	Criteria Provided Conflicting Classifications	CA10648478	rs_373812846	3 SubmittersRCV000355501 RCV001782848 RCV003221915 RCV004813090
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 SubmittersRCV000498440 RCV002261094 RCV002527136
NM_001370466.1(NOD2):c.233C>T (p.Ala78Val)	SNV Germline	Chr16:50699728	Conflicting classifications of pathogenicity	Autoinflammatory syndrome Blau syndrome Regional enteritis Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA8051250	rs_202052365	4 SubmittersRCV002261144 RCV002529867 RCV004957926 RCV006265146
NM_001370466.1(NOD2):c.293C>T (p.Pro98Leu)	SNV Germline	Chr16:50699788	Conflicting classifications of pathogenicity	Inflammatory bowel disease 1 Autoinflammatory syndrome Blau syndrome Regional enteritis NOD2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA8051262	rs_149390911	7 SubmittersRCV001784215 RCV002261147 RCV002533210 RCV003953131 RCV003884681
NM_001370466.1(NOD2):c.665A>G (p.Glu222Gly)	SNV Germline	Chr16:50710657	Conflicting classifications of pathogenicity	Condition: not provided Blau syndrome Regional enteritis Blau syndrome Yao syndrome Inflammatory bowel disease 1	Criteria Provided Conflicting Classifications	CA8051389	rs_117836686	3 SubmittersRCV001811130 RCV002529869 RCV005392203
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 not specified	Criteria Provided Conflicting Classifications	CA8051488	rs_150078153	7 SubmittersRCV001118317 RCV001784213 RCV001811129 RCV002263872 RCV002528894 RCV003905719 RCV005435973
NM_001370466.1(NOD2):c.2845G>A (p.Ala949Thr)	SNV Germline	Chr16:50725532	Conflicting classifications of pathogenicity	Blau syndrome Inflammatory bowel disease 1 Autoinflammatory syndrome Blau syndrome Regional enteritis Condition: not provided	Criteria Provided Conflicting Classifications	CA8052024	rs_148561632	4 SubmittersRCV001120441 RCV001784214 RCV002261145 RCV002529870 RCV004721511
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 SubmittersRCV002261146 RCV002529872
NM_001370466.1(NOD2):c.-8-2185C>T	SNV Germline	Chr16:50697303	Conflicting classifications of pathogenicity	Condition: not provided Autoinflammatory syndrome NOD2-related disorder Regional enteritis Blau syndrome	Criteria Provided Conflicting Classifications	CA8051170	rs_144993105	5 SubmittersRCV000658745 RCV002261163 RCV003945688 RCV005208854
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	CA8051336	rs_143080077	2 SubmittersRCV002533717 RCV004026669
NM_001370466.1(NOD2):c.2186G>A (p.Arg729Gln)	SNV Germline	Chr16:50712178	Conflicting classifications of pathogenicity	Regional enteritis Blau syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8051745	rs_375713299	2 SubmittersRCV002533475 RCV005443140
NM_001370466.1(NOD2):c.1097G>A (p.Arg366His)	SNV Germline	Chr16:50711089	Conflicting classifications of pathogenicity	Condition: not provided Regional enteritis Blau syndrome NOD2-related disorder Blau syndrome Yao syndrome Inflammatory bowel disease 1	Criteria Provided Conflicting Classifications	CA8051485	rs_140918872	4 SubmittersRCV003884704 RCV002544761 RCV004748904 RCV005392284
NM_001370466.1(NOD2):c.2465+1G>A	SNV Germline	Chr16:50716671	Conflicting classifications of pathogenicity	Blau syndrome Blau syndrome Regional enteritis	Criteria Provided Conflicting Classifications	CA8051819	rs_373550987	2 SubmittersRCV001115441 RCV002535634
NM_001370466.1(NOD2):c.1214C>T (p.Ala405Val)	SNV Germline	Chr16:50711206	Conflicting classifications of pathogenicity	Inflammatory bowel disease 1 Autoinflammatory syndrome Blau syndrome Regional enteritis Condition: not provided	Criteria Provided Conflicting Classifications	CA8051510	rs_2076754	4 SubmittersRCV001784430 RCV002263996 RCV002537241 RCV003222135
NM_001370466.1(NOD2):c.1745T>G (p.Phe582Cys)	SNV Germline	Chr16:50711737	Conflicting classifications of pathogenicity	Blau syndrome Inflammatory bowel disease 1 Blau syndrome Regional enteritis Inborn genetic diseases NOD2-related disorder	Criteria Provided Conflicting Classifications	CA8051631	rs_777798807	4 SubmittersRCV001115267 RCV001784425 RCV002534786 RCV004028183 RCV004748973
NM_001370466.1(NOD2):c.2087C>T (p.Pro696Leu)	SNV Germline	Chr16:50712079	Conflicting classifications of pathogenicity	Blau syndrome Condition: not provided Inflammatory bowel disease 1 Autoinflammatory syndrome Inborn genetic diseases Blau syndrome Regional enteritis NOD2-related disorder	Criteria Provided Conflicting Classifications	CA8051712	rs_201076024	7 SubmittersRCV001115355 RCV001529368 RCV001784427 RCV002261221 RCV002534810 RCV002537205 RCV003892723
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 Blau syndrome Regional enteritis NOD2-related disorder	Criteria Provided Conflicting Classifications	CA8051732	rs_140876663	5 SubmittersRCV001115357 RCV001509515 RCV001784434 RCV002261224 RCV002538045 RCV004748977
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 Yao syndrome Inflammatory bowel disease 1 Blau syndrome Regional enteritis Condition: not provided NOD2-related disorder not specified	Criteria Provided Conflicting Classifications	CA8051684	rs_114664276	6 SubmittersRCV001280997 RCV002261241 RCV003224498 RCV002548271 RCV003736944 RCV004749567 RCV005408106
NM_001370466.1(NOD2):c.258C>T (p.Asp86=)	SNV Germline	Chr16:50699753	Conflicting classifications of pathogenicity	Autoinflammatory syndrome Blau syndrome Regional enteritis Condition: not provided	Criteria Provided Conflicting Classifications	CA8051258	rs_138889062	3 SubmittersRCV002261246 RCV002548393 RCV003736947
NM_001370466.1(NOD2):c.1245C>T (p.Phe415=)	SNV Germline	Chr16:50711237	Conflicting classifications of pathogenicity	Blau syndrome Regional enteritis Condition: not provided Autoinflammatory syndrome	Criteria Provided Conflicting Classifications	CA8051522	rs_151315883	3 SubmittersRCV002547297 RCV003424505 RCV002264114
NM_001370466.1(NOD2):c.1693G>A (p.Val565Met)	SNV Germline	Chr16:50711685	Conflicting classifications of pathogenicity	Autoinflammatory syndrome Blau syndrome Regional enteritis Condition: not provided	Criteria Provided Conflicting Classifications	CA8051623	rs_148683734	4 SubmittersRCV002261247 RCV002550531 RCV003411923
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	CA281262397	rs_77966199	2 SubmittersRCV001118318 RCV001784477 RCV003768777
NM_001370466.1(NOD2):c.-8-2174C>T	SNV Germline	Chr16:50697314	Conflicting classifications of pathogenicity	Autoinflammatory syndrome Regional enteritis Blau syndrome	Criteria Provided Conflicting Classifications	CA8051172	rs_149122717	2 SubmittersRCV002261239 RCV002544508
NM_001370466.1(NOD2):c.789C>T (p.Asp263=)	SNV Germline	Chr16:50710781	Conflicting classifications of pathogenicity	Blau syndrome Inflammatory bowel disease 1 Regional enteritis Blau syndrome	Criteria Provided Conflicting Classifications	CA8051414	rs_749180535	2 SubmittersRCV001121732 RCV001784478 RCV002545972
NM_001370466.1(NOD2):c.2586A>C (p.Gln862His)	SNV Germline	Chr16:50719961	Conflicting classifications of pathogenicity	Inborn genetic diseases Regional enteritis Blau syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8051915	rs_764244331	3 SubmittersRCV002544606 RCV005208808 RCV006450812
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 Blau syndrome Regional enteritis	Criteria Provided Conflicting Classifications	CA8051955	rs_2066845	6 SubmittersRCV000996267 RCV001118603 RCV001784530 RCV002549931
NM_001370466.1(NOD2):c.1540C>T (p.Arg514Trp)	SNV Germline	Chr16:50711532	Conflicting classifications of pathogenicity	not specified Blau syndrome Regional enteritis	Criteria Provided Conflicting Classifications	CA8051593	rs_576658764	2 SubmittersRCV001001861 RCV002549166
NM_001370466.1(NOD2):c.417A>T (p.Glu139Asp)	SNV Germline	Chr16:50699912	Conflicting classifications of pathogenicity	Condition: not provided Blau syndrome Regional enteritis not specified	Criteria Provided Conflicting Classifications	CA8051291	rs_749605438	4 SubmittersRCV001311447 RCV002555831 RCV005236576
NM_001370466.1(NOD2):c.1096C>T (p.Arg366Cys)	SNV Germline	Chr16:50711088	Conflicting classifications of pathogenicity	Blau syndrome Regional enteritis Condition: not provided	Criteria Provided Conflicting Classifications	CA8051484	rs_140716236	2 SubmittersRCV002554411 RCV006450857
NM_001370466.1(NOD2):c.1894G>A (p.Val632Met)	SNV Germline	Chr16:50711886	Conflicting classifications of pathogenicity	Blau syndrome Regional enteritis Blau syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8051660	rs_570167996	3 SubmittersRCV002555870 RCV003132207 RCV003160562
NM_001370466.1(NOD2):c.2776A>G (p.Lys926Glu)	SNV Germline	Chr16:50723359	Conflicting classifications of pathogenicity	Condition: not provided Regional enteritis Blau syndrome	Criteria Provided Conflicting Classifications	CA8052001	rs_375705174	2 SubmittersRCV003405265 RCV002553818
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	CA8051249	rs_113706344	2 SubmittersRCV001118091 RCV001784654 RCV002556510
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 Blau syndrome Inflammatory bowel disease 1 Yao syndrome	Criteria Provided Conflicting Classifications	CA8051252	rs_571102620	3 SubmittersRCV001118094 RCV001784655 RCV003769161 RCV005394748
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	CA8051374	rs_529640892	5 SubmittersRCV001118204 RCV001784656 RCV002558169 RCV003346329 RCV003328652
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	CA8052002	rs_758223679	2 SubmittersRCV001120150 RCV001784658 RCV002558191
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	CA281285390	rs_547264433	1 SubmittersRCV001116963 RCV001784652
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	CA8051492	rs_779346494	2 SubmittersRCV002563147 RCV002563709
NM_001370466.1(NOD2):c.1322G>A (p.Arg441His)	SNV Germline	Chr16:50711314	Conflicting classifications of pathogenicity	Autoinflammatory syndrome Regional enteritis Blau syndrome	Criteria Provided Conflicting Classifications	CA8051540	rs_775728252	2 SubmittersRCV002264239 RCV002563246
NM_001370466.1(NOD2):c.1340A>G (p.Gln447Arg)	SNV Germline	Chr16:50711332	Conflicting classifications of pathogenicity	Regional enteritis Blau syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8051545	rs_367819045	2 SubmittersRCV002563255 RCV003166457
NM_001370466.1(NOD2):c.133G>A (p.Glu45Lys)	SNV Germline	Chr16:50699628	Conflicting classifications of pathogenicity	Regional enteritis Blau syndrome Blau syndrome	Criteria Provided Conflicting Classifications	CA8051221	rs_760069458	2 SubmittersRCV002564001 RCV003339557
NM_001370466.1(NOD2):c.299C>T (p.Ser100Leu)	SNV Germline	Chr16:50699794	Conflicting classifications of pathogenicity	Blau syndrome Regional enteritis Condition: not provided	Criteria Provided Conflicting Classifications	CA8051266	rs_146395646	2 SubmittersRCV002541842 RCV006450928
NM_001370466.1(NOD2):c.2298G>A (p.Val766=)	SNV Germline	Chr16:50712290	Conflicting classifications of pathogenicity	Blau syndrome Blau syndrome Regional enteritis	Criteria Provided Conflicting Classifications	CA8051764	rs_534738790	2 SubmittersRCV002227515 RCV002543140
NM_001370466.1(NOD2):c.1088A>T (p.Asp363Val)	SNV Germline	Chr16:50711080	Conflicting classifications of pathogenicity	Autoinflammatory syndrome Condition: not provided Regional enteritis Blau syndrome	Criteria Provided Conflicting Classifications	CA8051481	rs_769622495	5 SubmittersRCV002264274 RCV001729854 RCV002547466
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	CA495778285	rs_199951979	2 SubmittersRCV002261359 RCV002554064
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	CA8051497	rs_749142500	2 SubmittersRCV002264308 RCV002555106
NM_001370466.1(NOD2):c.1898C>G (p.Ala633Gly)	SNV Germline	Chr16:50711890	Conflicting classifications of pathogenicity	Regional enteritis Blau syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8051661	rs_111400183	2 SubmittersRCV002555097 RCV006450967
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	CA8051999	rs_527892258	2 SubmittersRCV002551594 RCV002551593
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 not specified	Criteria Provided Conflicting Classifications	CA495779189	rs_1164125645	4 SubmittersRCV002261361 RCV002555120 RCV003738068 RCV005057389
NM_001370466.1(NOD2):c.1462C>T (p.Leu488=)	SNV Germline	Chr16:50711454	Conflicting classifications of pathogenicity	Autoinflammatory syndrome Blau syndrome Regional enteritis	Criteria Provided Conflicting Classifications	CA495778873	rs_1318205250	2 SubmittersRCV002261366 RCV002561306
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	CA281263316	rs_369719210	2 SubmittersRCV002261368 RCV002564156
NM_001370466.1(NOD2):c.2381+7G>T	SNV Germline	Chr16:50712380	Conflicting classifications of pathogenicity	Autoinflammatory syndrome Blau syndrome Regional enteritis Condition: not provided	Criteria Provided Conflicting Classifications	CA8051774	rs_202111813	3 SubmittersRCV002261369 RCV002568021 RCV006451004
NM_001370466.1(NOD2):c.1390A>C (p.Met464Leu)	SNV Germline	Chr16:50711382	Likely pathogenic	Blau syndrome	No Assertion Criteria Provided	CA395868988	rs_2150810705	1 SubmittersRCV001542792
NM_001370466.1(NOD2):c.1709C>T (p.Ala570Val)	SNV Germline	Chr16:50711701	Conflicting classifications of pathogenicity	Blau syndrome Inflammatory bowel disease 1 Autoinflammatory syndrome Regional enteritis Blau syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA8051626	rs_377554134	5 SubmittersRCV001882057 RCV002261409 RCV002553615 RCV004693887 RCV006453786
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	CA395869684	rs_1964520477	2 SubmittersRCV002563634 RCV003989740
NM_001370466.1(NOD2):c.1234C>T (p.Arg412Cys)	SNV Germline	Chr16:50711226	Conflicting classifications of pathogenicity	Blau syndrome Regional enteritis Inflammatory bowel disease 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA8051518	rs_375201229	3 SubmittersRCV002592534 RCV003136411 RCV005242142
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	CA8052021	rs_371389581	2 SubmittersRCV002545368 RCV003426217
NM_001370466.1(NOD2):c.2177G>A (p.Arg726Gln)	SNV Germline	Chr16:50712169	Conflicting classifications of pathogenicity	Regional enteritis Blau syndrome Blau syndrome	Criteria Provided Conflicting Classifications	CA8051742	rs_774888496	2 SubmittersRCV003093827 RCV005361984
NM_001370466.1(NOD2):c.162C>T (p.Leu54=)	SNV Germline	Chr16:50699657	Conflicting classifications of pathogenicity	Autoinflammatory syndrome Blau syndrome Regional enteritis	Criteria Provided Conflicting Classifications	CA495778274	rs_1963835517	2 SubmittersRCV002261457 RCV003070654
NM_001370466.1(NOD2):c.2619C>T (p.Ser873=)	SNV Germline	Chr16:50719994	Conflicting classifications of pathogenicity	Autoinflammatory syndrome Regional enteritis Blau syndrome	Criteria Provided Conflicting Classifications	CA8051928	rs_759227592	2 SubmittersRCV002261448 RCV002551322
NM_001370466.1(NOD2):c.2595C>T (p.Ala865=)	SNV Germline	Chr16:50719970	Conflicting classifications of pathogenicity	Autoinflammatory syndrome Regional enteritis Blau syndrome	Criteria Provided Conflicting Classifications	CA8051920	rs_375012324	2 SubmittersRCV002261447 RCV002551318
NM_001370466.1(NOD2):c.963A>G (p.Leu321=)	SNV Germline	Chr16:50710955	Conflicting classifications of pathogenicity	Inflammatory bowel disease 1 Blau syndrome Psoriatic arthritis, susceptibility to Yao syndrome Blau syndrome Regional enteritis	Criteria Provided Conflicting Classifications	CA495778483	rs_2150808670	2 SubmittersRCV002208760 RCV003089103
NM_001370466.1(NOD2):c.1605C>T (p.Cys535=)	SNV Germline	Chr16:50711597	Conflicting classifications of pathogenicity	Autoinflammatory syndrome Blau syndrome Regional enteritis	Criteria Provided Conflicting Classifications	CA495778651	rs_2150811696	2 SubmittersRCV002261974 RCV006558710
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	CA8051692	rs_139104022	2 SubmittersRCV002261977 RCV003095915
NM_001370466.1(NOD2):c.2572G>C (p.Ala858Pro)	SNV Germline	Chr16:50719947	Conflicting classifications of pathogenicity	Autoinflammatory syndrome Blau syndrome Regional enteritis	Criteria Provided Conflicting Classifications	CA8051911	rs_759456303	2 SubmittersRCV002261979 RCV003095917
NM_001370466.1(NOD2):c.545C>T (p.Pro182Leu)	SNV Germline	Chr16:50707940	Conflicting classifications of pathogenicity	Autoinflammatory syndrome Regional enteritis Blau syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8051337	rs_753744335	3 SubmittersRCV002261985 RCV003774808 RCV005455538
NM_001370466.1(NOD2):c.-7T>C	SNV Germline	Chr16:50699489	Conflicting classifications of pathogenicity	Autoinflammatory syndrome Blau syndrome Regional enteritis	Criteria Provided Conflicting Classifications	CA8051195	rs_371044393	2 SubmittersRCV002261988 RCV003095918
NM_001370466.1(NOD2):c.725C>T (p.Pro242Leu)	SNV Germline	Chr16:50710717	Conflicting classifications of pathogenicity	Regional enteritis Blau syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA8051399	rs_774703072	3 SubmittersRCV003071323 RCV004960954 RCV006451314
NM_001370466.1(NOD2):c.2948A>G (p.Asn983Ser)	SNV Germline	Chr16:50729880	Conflicting classifications of pathogenicity	Regional enteritis Blau syndrome NOD2-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA8052050	rs_367905706	3 SubmittersRCV003080559 RCV003420342 RCV004809902
NM_001370466.1(NOD2):c.383T>A (p.Leu128Gln)	SNV Germline	Chr16:50699878	Conflicting classifications of pathogenicity	Blau syndrome Regional enteritis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8051283	rs_148753593	2 SubmittersRCV002942228 RCV004067158
NM_001370466.1(NOD2):c.1068G>C (p.Glu356Asp)	SNV Germline	Chr16:50711060	Pathogenic	Regional enteritis Blau syndrome	Criteria Provided Single Submitter	CA395868325	rs_2506403400	1 SubmittersRCV003780084
NM_001370466.1(NOD2):c.1295G>A (p.Arg432His)	SNV Germline	Chr16:50711287	Conflicting classifications of pathogenicity	Blau syndrome Regional enteritis Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8051530	rs_753458507	2 SubmittersRCV003780335 RCV005445963
NM_001370466.1(NOD2):c.2344C>A (p.Gln782Lys)	SNV Germline	Chr16:50712336	Pathogenic	Blau syndrome	No Assertion Criteria Provided			1 SubmittersRCV005862056

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
Inflammatory bowel disease 1
Psoriatic arthritis, susceptibility to
Blau syndrome
Inflammatory bowel disease 1
Yao syndrome
Blau syndrome
Regional enteritis
Autoinflammatory syndrome
Blau syndrome
Inflammatory bowel disease 1
Yao syndrome

Criteria Provided
Conflicting Classifications

CA117015

rs_2066845

11 SubmittersRCV000238745 RCV000268347 RCV000416490 RCV000996266 RCV001781185 RCV002054415 RCV002512782 RCV002260961 RCV005394119

NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp)

SNV
Germline

Chr16:50712015

Conflicting classifications of pathogenicity; association

not specified
Blau syndrome
Yao syndrome
Inflammatory bowel disease 1
Crohn disease
Condition: not provided
Autoinflammatory syndrome
Blau syndrome
Regional enteritis
Blau syndrome
Inflammatory bowel disease 1
Yao syndrome

Criteria Provided
Conflicting Classifications

CA213414

rs_2066844

14 SubmittersRCV000203217 RCV000365422 RCV000416493 RCV001781186 RCV001535441 RCV001810832 RCV002262557 RCV002512783 RCV005394120

NM_001370466.1(NOD2):c.920G>A (p.Arg307Gln)

SNV
Germline

Chr16:50710912

Pathogenic

Blau syndrome
Condition: not provided
Blau syndrome
Regional enteritis

Criteria Provided
Multiple Submitters
No Conflicts

CA117018

rs_104895461

6 SubmittersRCV000004958 RCV000482720 RCV002512784

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
Blau syndrome
Regional enteritis

Criteria Provided
Multiple Submitters
No Conflicts

CA117022

rs_104895462

9 SubmittersRCV000004960 RCV001509512 RCV002512785

NM_001370466.1(NOD2):c.2717+158C>T

SNV
Germline

Chr16:50722863

Conflicting classifications of pathogenicity

Blau syndrome
Yao syndrome
Condition: not provided
Autoinflammatory syndrome
Inflammatory bowel disease 1
Blau syndrome
Regional enteritis

Criteria Provided
Conflicting Classifications

CA117024

rs_5743289

9 SubmittersRCV000416486 RCV000416489 RCV000960463 RCV001029749 RCV001781187 RCV005208820

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 SubmittersRCV000416482 RCV003764528

NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr)

SNV
Germline

Chr16:50711745

Conflicting classifications of pathogenicity

Blau syndrome
Inflammatory bowel disease 1
Psoriatic arthritis, susceptibility to
Blau syndrome
Inflammatory bowel disease 1
Yao syndrome
Blau syndrome
Regional enteritis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA117029

rs_104895438

6 SubmittersRCV000328692 RCV001781188 RCV001280996 RCV002512787 RCV003421904

NM_001370466.1(NOD2):c.1066G>A (p.Glu356Lys)

SNV
Germline

Chr16:50711058

Pathogenic

Blau syndrome
Blau syndrome
Regional enteritis

Criteria Provided
Single Submitter

CA117031

rs_104895477

3 SubmittersRCV000004966 RCV002512788

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 SubmittersRCV000084073 RCV001781412 RCV001811395 RCV002513868

NM_001370466.1(NOD2):c.1090C>T (p.Arg364Cys)

SNV
Germline

Chr16:50711082

Conflicting classifications of pathogenicity

Blau syndrome
Regional enteritis
Blau syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA150181

rs_104895481

4 SubmittersRCV000084078 RCV002514469 RCV006449987 RCV006263660

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
Blau syndrome
Regional enteritis
NOD2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA150187

rs_104895430

7 SubmittersRCV000265284 RCV000584869 RCV001781413 RCV002262676 RCV002514471 RCV004748571 RCV006456693

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
not specified

Criteria Provided
Conflicting Classifications

CA150190

rs_104895431

9 SubmittersRCV000084081 RCV000954297 RCV001781414 RCV002262677 RCV002514472 RCV003974994 RCV006451924

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 SubmittersRCV000084082 RCV000658746 RCV001781415 RCV002513869

NM_001370466.1(NOD2):c.1361G>A (p.Gly454Asp)

SNV
Germline

Chr16:50711353

Pathogenic

Blau syndrome
Blau syndrome
Regional enteritis

Criteria Provided
Single Submitter

CA150205

rs_104895494

2 SubmittersRCV000084087 RCV005222745

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 SubmittersRCV000313522 RCV001781416 RCV002513871 RCV003407472

NM_001370466.1(NOD2):c.1457T>C (p.Met486Thr)

SNV
Germline

Chr16:50711449

Pathogenic/Likely pathogenic

Blau syndrome
Regional enteritis
Blau syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA150217

rs_104895473

4 SubmittersRCV000084091 RCV002513872 RCV004724801

NM_001370466.1(NOD2):c.1678C>T (p.Arg560Cys)

SNV
Germline

Chr16:50711670

Pathogenic/Likely pathogenic

Blau syndrome
Condition: not provided
Regional enteritis
Blau syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA150228

rs_104895479

4 SubmittersRCV000084095 RCV001092928 RCV002514475

NM_001370466.1(NOD2):c.1929C>A (p.Asn643Lys)

SNV
Germline

Chr16:50711921

Pathogenic

Blau syndrome
Blau syndrome
Regional enteritis

Criteria Provided
Single Submitter

CA150239

rs_104895475

2 SubmittersRCV000084099 RCV002513874

NM_001370466.1(NOD2):c.2099C>T (p.Pro700Leu)

SNV
Germline

Chr16:50712091

Conflicting classifications of pathogenicity

Blau syndrome
Yao syndrome
Blau syndrome
Inflammatory bowel disease 1
Regional enteritis
Blau syndrome

Criteria Provided
Conflicting Classifications

CA150247

rs_104895489

4 SubmittersRCV000084102 RCV002505016 RCV002513877

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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA150256

rs_104895443

8 SubmittersRCV000084105 RCV000785151 RCV001781418 RCV002260978 RCV002514478 RCV005865236

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
not specified

Criteria Provided
Conflicting Classifications

CA150259

rs_104895484

4 SubmittersRCV000084106 RCV001781419 RCV002513878 RCV006456694

NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln)

SNV
Germline

Chr16:50712283

Conflicting classifications of pathogenicity

Blau syndrome
Inflammatory bowel disease 1
Autoinflammatory syndrome
Condition: not provided
Regional enteritis
Blau syndrome
Yao syndrome
Blau syndrome
Inflammatory bowel disease 1
not specified

Criteria Provided
Conflicting Classifications

CA150262

rs_104895464

10 SubmittersRCV000366861 RCV001781420 RCV002260979 RCV001811396 RCV002513879 RCV005016372 RCV006456695

NM_001370466.1(NOD2):c.2465C>T (p.Ala822Val)

SNV
Germline

Chr16:50716670

Conflicting classifications of pathogenicity

Blau syndrome
Inflammatory bowel disease 1
Regional enteritis
Blau syndrome
Autoinflammatory syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA150277

rs_104895486

5 SubmittersRCV000381377 RCV001781423 RCV002513882 RCV002260983 RCV003736574

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
Yao syndrome
Blau syndrome
Inflammatory bowel disease 1

Criteria Provided
Conflicting Classifications

CA150280

rs_104895467

10 SubmittersRCV000280478 RCV000336827 RCV001781424 RCV002260984 RCV002513883 RCV005394356

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

10 SubmittersRCV000320195 RCV001509517 RCV001781426 RCV002260986 RCV002513885 RCV003964950

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 SubmittersRCV000084125 RCV001781427 RCV002514481

NM_001370466.1(NOD2):c.2852G>A (p.Gly951Glu)

SNV
Germline

Chr16:50725539

Conflicting classifications of pathogenicity

Blau syndrome
Condition: not provided
Inflammatory bowel disease 1
Regional enteritis
Blau syndrome
Yao syndrome
Blau syndrome
Inflammatory bowel disease 1

Criteria Provided
Conflicting Classifications

CA150320

rs_104895457

7 SubmittersRCV000084129 RCV001753487 RCV001781429 RCV002514484 RCV005394357

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
Condition: not provided
Yao syndrome
Blau syndrome
Inflammatory bowel disease 1

Criteria Provided
Conflicting Classifications

CA150333

rs_104895456

7 SubmittersRCV000383429 RCV001781430 RCV002513888 RCV005222746 RCV005016373

NM_001370466.1(NOD2):c.622C>T (p.Arg208Cys)

SNV
Germline

Chr16:50710614

Conflicting classifications of pathogenicity

Blau syndrome
Autoinflammatory syndrome
Inflammatory bowel disease 1
Regional enteritis
Blau syndrome
Yao syndrome
Blau syndrome
Inflammatory bowel disease 1
NOD2-related disorder

Criteria Provided
Conflicting Classifications

CA150339

rs_104895422

6 SubmittersRCV000328605 RCV002262680 RCV001781431 RCV002514488 RCV005394358 RCV004748573

NM_001370466.1(NOD2):c.-8-7T>A

SNV
Germline

Chr16:50699481

Conflicting classifications of pathogenicity

not specified
Blau syndrome
Autoinflammatory syndrome
Inflammatory bowel disease 1
Condition: not provided
Regional enteritis
Blau syndrome
Ovarian serous cystadenocarcinoma

Criteria Provided
Conflicting Classifications

CA213421

rs_104895421

9 SubmittersRCV000202800 RCV000302918 RCV002262681 RCV001781432 RCV001811398 RCV002514489 RCV005887700

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

6 SubmittersRCV000084138 RCV001811399 RCV002260989 RCV002514490

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
Regional enteritis
Blau syndrome
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA150348

rs_104895425

7 SubmittersRCV000084140 RCV001781433 RCV002225284 RCV002513889 RCV002260990

NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp)

SNV
Germline

Chr16:50710842

Conflicting classifications of pathogenicity

Condition: not provided
Blau syndrome
Yao syndrome
Blau syndrome
Inflammatory bowel disease 1
Inflammatory bowel disease 1
Regional enteritis
Blau syndrome
NOD2-related disorder

Criteria Provided
Conflicting Classifications

CA150354

rs_104895427

8 SubmittersRCV000178335 RCV000369785 RCV000768031 RCV001781434 RCV002514491 RCV004748574

NM_001370466.1(NOD2):c.1036C>T (p.Arg346Cys)

SNV
Germline

Chr16:50711028

Conflicting classifications of pathogenicity

Blau syndrome
Condition: not provided
Regional enteritis
Blau syndrome
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA150374

rs_145293873

9 SubmittersRCV000084160 RCV001753488 RCV002513891 RCV002262685

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 SubmittersRCV000089374 RCV001115536 RCV001781436

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
Blau syndrome
Regional enteritis
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA202825

rs_5743277

8 SubmittersRCV000178334 RCV000368536 RCV000488013 RCV001781536 RCV002517729 RCV002262774

NM_001370466.1(NOD2):c.403G>A (p.Val135Ile)

SNV
Germline

Chr16:50699898

Conflicting classifications of pathogenicity

Blau syndrome
Inflammatory bowel disease 1
Condition: not provided
Autoinflammatory syndrome
Regional enteritis
Blau syndrome

Criteria Provided
Conflicting Classifications

CA8051288

rs_139571975

4 SubmittersRCV000295019 RCV001782791 RCV002227151 RCV002261055 RCV002522853

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
Autoinflammatory syndrome
Regional enteritis
Blau syndrome
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA8051339

rs_5743269

7 SubmittersRCV000308251 RCV001812841 RCV001782796 RCV002263012 RCV002521022 RCV003258759 RCV005407051

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 SubmittersRCV000375919 RCV000585355 RCV001782800 RCV002521025

NM_001370466.1(NOD2):c.1900G>C (p.Ala634Pro)

SNV
Germline

Chr16:50711892

Conflicting classifications of pathogenicity

Blau syndrome
Inflammatory bowel disease 1
Regional enteritis
Blau syndrome

Criteria Provided
Conflicting Classifications

CA8051663

rs_369957746

2 SubmittersRCV000403955 RCV001782817 RCV002522863

NM_001370466.1(NOD2):c.2408G>A (p.Arg803Gln)

SNV
Germline

Chr16:50716613

Conflicting classifications of pathogenicity

Blau syndrome
Inflammatory bowel disease 1
Regional enteritis
Blau syndrome

Criteria Provided
Conflicting Classifications

CA8051803

rs_770915641

2 SubmittersRCV000377831 RCV001782829 RCV002521044

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 SubmittersRCV000330041 RCV001782844 RCV003409499

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
Regional enteritis
Blau syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8051239

rs_187264529

5 SubmittersRCV000268742 RCV001782789 RCV001812837 RCV002261053 RCV002521017 RCV002521016

NM_001370466.1(NOD2):c.379G>A (p.Asp127Asn)

SNV
Germline

Chr16:50699874

Conflicting classifications of pathogenicity

Blau syndrome
Inflammatory bowel disease 1
Condition: not provided
Autoinflammatory syndrome
Regional enteritis
Blau syndrome
NOD2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA8051281

rs_146054564

8 SubmittersRCV000330156 RCV001782790 RCV001812838 RCV002261054 RCV002521018 RCV003969902 RCV005238890

NM_001370466.1(NOD2):c.450G>A (p.Pro150=)

SNV
Germline

Chr16:50699945

Conflicting classifications of pathogenicity

Blau syndrome
Inflammatory bowel disease 1
Regional enteritis
Blau syndrome

Criteria Provided
Conflicting Classifications

CA8051299

rs_775281342

2 SubmittersRCV000335907 RCV001782792 RCV002521019

NM_001370466.1(NOD2):c.778C>T (p.His260Tyr)

SNV
Germline

Chr16:50710770

Conflicting classifications of pathogenicity

Blau syndrome
Inflammatory bowel disease 1
Regional enteritis
Blau syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8051412

rs_560242309

3 SubmittersRCV000344671 RCV001782803 RCV002521028 RCV006555832

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
Regional enteritis
Blau syndrome

Criteria Provided
Conflicting Classifications

CA8051417

rs_149338478

4 SubmittersRCV000347725 RCV001782805 RCV002261058 RCV002522857

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
Regional enteritis
Blau syndrome

Criteria Provided
Conflicting Classifications

CA8051707

rs_200035357

3 SubmittersRCV000372158 RCV001782822 RCV002261062 RCV002522866

NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val)

SNV
Germline

Chr16:50712175

Conflicting classifications of pathogenicity

Blau syndrome
Condition: not provided
Inflammatory bowel disease 1
Psoriatic arthritis, susceptibility to
Blau syndrome
Yao syndrome
Inflammatory bowel disease 1
Regional enteritis
Blau syndrome
Autoinflammatory syndrome
NOD2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA8051743

rs_61747625

11 SubmittersRCV000341511 RCV000513725 RCV001782824 RCV002056495 RCV002521040 RCV002263017 RCV003920348 RCV006452590

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
Regional enteritis
Blau syndrome
Thymoma

Criteria Provided
Conflicting Classifications

CA8051787

rs_201759367

6 SubmittersRCV000355770 RCV001000740 RCV001764288 RCV001782828 RCV002261065 RCV002521043 RCV005894484

NM_001370466.1(NOD2):c.2623C>A (p.Gln875Lys)

SNV
Germline

Chr16:50719998

Conflicting classifications of pathogenicity

Blau syndrome
Inflammatory bowel disease 1
Autoinflammatory syndrome
Regional enteritis
Blau syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8051929

rs_201035873

4 SubmittersRCV000366842 RCV001782833 RCV002261066 RCV002521045 RCV003326408

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 SubmittersRCV000392805 RCV001782837 RCV003418000

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
Regional enteritis
Blau syndrome
not specified

Criteria Provided
Conflicting Classifications

CA8051320

rs_61755182

11 SubmittersRCV000585590 RCV001121630 RCV001782795 RCV002263011 RCV002521021 RCV006458249

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
NOD2-related disorder

Criteria Provided
Conflicting Classifications

CA8051383

rs_148516118

3 SubmittersRCV000274697 RCV001782798 RCV002522855 RCV004748728

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
Regional enteritis
Blau syndrome

Criteria Provided
Conflicting Classifications

CA8051599

rs_777949388

3 SubmittersRCV000355684 RCV001782812 RCV001812846 RCV002522859

NM_001370466.1(NOD2):c.1758C>T (p.Phe586=)

SNV
Germline

Chr16:50711750

Conflicting classifications of pathogenicity

Blau syndrome
Inflammatory bowel disease 1
Regional enteritis
Blau syndrome
NOD2-related disorder

Criteria Provided
Conflicting Classifications

CA8051636

rs_149870902

3 SubmittersRCV000332078 RCV001782815 RCV002521036 RCV003972364

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
Regional enteritis
Blau syndrome
not specified

Criteria Provided
Conflicting Classifications

CA8051668

rs_5743275

5 SubmittersRCV000339948 RCV001782818 RCV001812848 RCV002261060 RCV002522864 RCV005238891

NM_001370466.1(NOD2):c.1965G>T (p.Leu655Phe)

SNV
Germline

Chr16:50711957

Conflicting classifications of pathogenicity

Blau syndrome
Inflammatory bowel disease 1
Condition: not provided
Regional enteritis
Blau syndrome
not specified

Criteria Provided
Conflicting Classifications

CA8051681

rs_149002807

6 SubmittersRCV000361829 RCV001782819 RCV001812849 RCV002521037 RCV006268731

NM_001370466.1(NOD2):c.3013G>A (p.Gly1005Ser)

SNV
Germline

Chr16:50731790

Conflicting classifications of pathogenicity

Blau syndrome
Inflammatory bowel disease 1
Regional enteritis
Blau syndrome

Criteria Provided
Conflicting Classifications

CA8052076

rs_147874812

2 SubmittersRCV000295535 RCV001782836 RCV002522869

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
Regional enteritis
Blau syndrome
Blau syndrome
Yao syndrome
Inflammatory bowel disease 1

Criteria Provided
Conflicting Classifications

CA8051207

rs_201586544

6 SubmittersRCV000322676 RCV001590949 RCV001782788 RCV002522852 RCV005016705

NM_001370466.1(NOD2):c.747G>A (p.Leu249=)

SNV
Germline

Chr16:50710739

Conflicting classifications of pathogenicity

Blau syndrome
Inflammatory bowel disease 1
Regional enteritis
Blau syndrome

Criteria Provided
Conflicting Classifications

CA8051407

rs_763504952

2 SubmittersRCV000341177 RCV001782801 RCV002522856

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
Regional enteritis
Blau syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8051409

rs_756943416

4 SubmittersRCV000287407 RCV001782802 RCV002521027 RCV002521026 RCV003114482

NM_001370466.1(NOD2):c.785A>G (p.Asn262Ser)

SNV
Germline

Chr16:50710777

Conflicting classifications of pathogenicity

Blau syndrome
Condition: not provided
not specified
Inflammatory bowel disease 1
Autoinflammatory syndrome
Regional enteritis
Blau syndrome
NOD2-related disorder

Criteria Provided
Conflicting Classifications

CA8051413

rs_5743271

9 SubmittersRCV001121730 RCV001702425 RCV001726112 RCV001782804 RCV002263013 RCV002521029 RCV003972362

NM_001370466.1(NOD2):c.1235G>A (p.Arg412His)

SNV
Germline

Chr16:50711227

Conflicting classifications of pathogenicity

Blau syndrome
Condition: not provided
Inflammatory bowel disease 1
Regional enteritis
Blau syndrome
NOD2-related disorder

Criteria Provided
Conflicting Classifications

CA8051519

rs_143110172

5 SubmittersRCV000379610 RCV000700656 RCV001782808 RCV002521032 RCV003401335

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
Regional enteritis
Blau syndrome

Criteria Provided
Conflicting Classifications

CA8051589

rs_145190613

3 SubmittersRCV000405440 RCV001782811 RCV001812845 RCV002522858

NM_001370466.1(NOD2):c.2284C>T (p.Leu762Phe)

SNV
Germline

Chr16:50712276

Conflicting classifications of pathogenicity

Blau syndrome
Condition: not provided
Inflammatory bowel disease 1
Regional enteritis
Blau syndrome
not specified

Criteria Provided
Conflicting Classifications

CA8051759

rs_773758818

4 SubmittersRCV000404638 RCV001357181 RCV001782826 RCV002521041 RCV003387832

NM_001370466.1(NOD2):c.2631G>A (p.Leu877=)

SNV
Germline

Chr16:50720006

Conflicting classifications of pathogenicity

Blau syndrome
Inflammatory bowel disease 1
Psoriatic arthritis, susceptibility to
Blau syndrome
Yao syndrome
Inflammatory bowel disease 1
Blau syndrome
Yao syndrome
Inflammatory bowel disease 1
Regional enteritis
Blau syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8051932

rs_142559533

4 SubmittersRCV000272343 RCV001782834 RCV002056496 RCV003224259 RCV002521046 RCV005256597

NM_001370466.1(NOD2):c.2659G>A (p.Glu887Lys)

SNV
Germline

Chr16:50722647

Conflicting classifications of pathogenicity

Blau syndrome
Inflammatory bowel disease 1
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8051959

rs_758913334

2 SubmittersRCV000323493 RCV001782835 RCV005452980

NM_001370466.1(NOD2):c.*873C>T

SNV
Germline

Chr16:50732692

Conflicting classifications of pathogenicity

Blau syndrome
Inflammatory bowel disease 1
Condition: not provided
Dilated cardiomyopathy 1G

Criteria Provided
Conflicting Classifications

CA10648478

rs_373812846

3 SubmittersRCV000355501 RCV001782848 RCV003221915 RCV004813090

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 SubmittersRCV000498440 RCV002261094 RCV002527136

NM_001370466.1(NOD2):c.233C>T (p.Ala78Val)

SNV
Germline

Chr16:50699728

Conflicting classifications of pathogenicity

Autoinflammatory syndrome
Blau syndrome
Regional enteritis
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8051250

rs_202052365

4 SubmittersRCV002261144 RCV002529867 RCV004957926 RCV006265146

NM_001370466.1(NOD2):c.293C>T (p.Pro98Leu)

SNV
Germline

Chr16:50699788

Conflicting classifications of pathogenicity

Inflammatory bowel disease 1
Autoinflammatory syndrome
Blau syndrome
Regional enteritis
NOD2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8051262

rs_149390911

7 SubmittersRCV001784215 RCV002261147 RCV002533210 RCV003953131 RCV003884681

NM_001370466.1(NOD2):c.665A>G (p.Glu222Gly)

SNV
Germline

Chr16:50710657

Conflicting classifications of pathogenicity

Condition: not provided
Blau syndrome
Regional enteritis
Blau syndrome
Yao syndrome
Inflammatory bowel disease 1

Criteria Provided
Conflicting Classifications

CA8051389

rs_117836686

3 SubmittersRCV001811130 RCV002529869 RCV005392203

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
not specified

Criteria Provided
Conflicting Classifications

CA8051488

rs_150078153

7 SubmittersRCV001118317 RCV001784213 RCV001811129 RCV002263872 RCV002528894 RCV003905719 RCV005435973

NM_001370466.1(NOD2):c.2845G>A (p.Ala949Thr)

SNV
Germline

Chr16:50725532

Conflicting classifications of pathogenicity

Blau syndrome
Inflammatory bowel disease 1
Autoinflammatory syndrome
Blau syndrome
Regional enteritis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8052024

rs_148561632

4 SubmittersRCV001120441 RCV001784214 RCV002261145 RCV002529870 RCV004721511

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 SubmittersRCV002261146 RCV002529872

NM_001370466.1(NOD2):c.-8-2185C>T

SNV
Germline

Chr16:50697303

Conflicting classifications of pathogenicity

Condition: not provided
Autoinflammatory syndrome
NOD2-related disorder
Regional enteritis
Blau syndrome

Criteria Provided
Conflicting Classifications

CA8051170

rs_144993105

5 SubmittersRCV000658745 RCV002261163 RCV003945688 RCV005208854

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

CA8051336

rs_143080077

2 SubmittersRCV002533717 RCV004026669

NM_001370466.1(NOD2):c.2186G>A (p.Arg729Gln)

SNV
Germline

Chr16:50712178

Conflicting classifications of pathogenicity

Regional enteritis
Blau syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8051745

rs_375713299

2 SubmittersRCV002533475 RCV005443140

NM_001370466.1(NOD2):c.1097G>A (p.Arg366His)

SNV
Germline

Chr16:50711089

Conflicting classifications of pathogenicity

Condition: not provided
Regional enteritis
Blau syndrome
NOD2-related disorder
Blau syndrome
Yao syndrome
Inflammatory bowel disease 1

Criteria Provided
Conflicting Classifications

CA8051485

rs_140918872

4 SubmittersRCV003884704 RCV002544761 RCV004748904 RCV005392284

NM_001370466.1(NOD2):c.2465+1G>A

SNV
Germline

Chr16:50716671

Conflicting classifications of pathogenicity

Blau syndrome
Blau syndrome
Regional enteritis

Criteria Provided
Conflicting Classifications

CA8051819

rs_373550987

2 SubmittersRCV001115441 RCV002535634

NM_001370466.1(NOD2):c.1214C>T (p.Ala405Val)

SNV
Germline

Chr16:50711206

Conflicting classifications of pathogenicity

Inflammatory bowel disease 1
Autoinflammatory syndrome
Blau syndrome
Regional enteritis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8051510

rs_2076754

4 SubmittersRCV001784430 RCV002263996 RCV002537241 RCV003222135

NM_001370466.1(NOD2):c.1745T>G (p.Phe582Cys)

SNV
Germline

Chr16:50711737

Conflicting classifications of pathogenicity

Blau syndrome
Inflammatory bowel disease 1
Blau syndrome
Regional enteritis
Inborn genetic diseases
NOD2-related disorder

Criteria Provided
Conflicting Classifications

CA8051631

rs_777798807

4 SubmittersRCV001115267 RCV001784425 RCV002534786 RCV004028183 RCV004748973

NM_001370466.1(NOD2):c.2087C>T (p.Pro696Leu)

SNV
Germline

Chr16:50712079

Conflicting classifications of pathogenicity

Blau syndrome
Condition: not provided
Inflammatory bowel disease 1
Autoinflammatory syndrome
Inborn genetic diseases
Blau syndrome
Regional enteritis
NOD2-related disorder

Criteria Provided
Conflicting Classifications

CA8051712

rs_201076024

7 SubmittersRCV001115355 RCV001529368 RCV001784427 RCV002261221 RCV002534810 RCV002537205 RCV003892723

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
Blau syndrome
Regional enteritis
NOD2-related disorder

Criteria Provided
Conflicting Classifications

CA8051732

rs_140876663

5 SubmittersRCV001115357 RCV001509515 RCV001784434 RCV002261224 RCV002538045 RCV004748977

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
Yao syndrome
Inflammatory bowel disease 1
Blau syndrome
Regional enteritis
Condition: not provided
NOD2-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA8051684

rs_114664276

6 SubmittersRCV001280997 RCV002261241 RCV003224498 RCV002548271 RCV003736944 RCV004749567 RCV005408106

NM_001370466.1(NOD2):c.258C>T (p.Asp86=)

SNV
Germline

Chr16:50699753

Conflicting classifications of pathogenicity

Autoinflammatory syndrome
Blau syndrome
Regional enteritis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8051258

rs_138889062

3 SubmittersRCV002261246 RCV002548393 RCV003736947

NM_001370466.1(NOD2):c.1245C>T (p.Phe415=)

SNV
Germline

Chr16:50711237

Conflicting classifications of pathogenicity

Blau syndrome
Regional enteritis
Condition: not provided
Autoinflammatory syndrome

Criteria Provided
Conflicting Classifications

CA8051522

rs_151315883

3 SubmittersRCV002547297 RCV003424505 RCV002264114

NM_001370466.1(NOD2):c.1693G>A (p.Val565Met)

SNV
Germline

Chr16:50711685

Conflicting classifications of pathogenicity

Autoinflammatory syndrome
Blau syndrome
Regional enteritis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8051623

rs_148683734

4 SubmittersRCV002261247 RCV002550531 RCV003411923

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

CA281262397

rs_77966199

2 SubmittersRCV001118318 RCV001784477 RCV003768777

NM_001370466.1(NOD2):c.-8-2174C>T

SNV
Germline

Chr16:50697314

Conflicting classifications of pathogenicity

Autoinflammatory syndrome
Regional enteritis
Blau syndrome

Criteria Provided
Conflicting Classifications

CA8051172

rs_149122717

2 SubmittersRCV002261239 RCV002544508

NM_001370466.1(NOD2):c.789C>T (p.Asp263=)

SNV
Germline

Chr16:50710781

Conflicting classifications of pathogenicity

Blau syndrome
Inflammatory bowel disease 1
Regional enteritis
Blau syndrome

Criteria Provided
Conflicting Classifications

CA8051414

rs_749180535

2 SubmittersRCV001121732 RCV001784478 RCV002545972

NM_001370466.1(NOD2):c.2586A>C (p.Gln862His)

SNV
Germline

Chr16:50719961

Conflicting classifications of pathogenicity

Inborn genetic diseases
Regional enteritis
Blau syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8051915

rs_764244331

3 SubmittersRCV002544606 RCV005208808 RCV006450812

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
Blau syndrome
Regional enteritis

Criteria Provided
Conflicting Classifications

CA8051955

rs_2066845

6 SubmittersRCV000996267 RCV001118603 RCV001784530 RCV002549931

NM_001370466.1(NOD2):c.1540C>T (p.Arg514Trp)

SNV
Germline

Chr16:50711532

Conflicting classifications of pathogenicity

not specified
Blau syndrome
Regional enteritis

Criteria Provided
Conflicting Classifications

CA8051593

rs_576658764

2 SubmittersRCV001001861 RCV002549166

NM_001370466.1(NOD2):c.417A>T (p.Glu139Asp)

SNV
Germline

Chr16:50699912

Conflicting classifications of pathogenicity

Condition: not provided
Blau syndrome
Regional enteritis
not specified

Criteria Provided
Conflicting Classifications

CA8051291

rs_749605438

4 SubmittersRCV001311447 RCV002555831 RCV005236576

NM_001370466.1(NOD2):c.1096C>T (p.Arg366Cys)

SNV
Germline

Chr16:50711088

Conflicting classifications of pathogenicity

Blau syndrome
Regional enteritis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8051484

rs_140716236

2 SubmittersRCV002554411 RCV006450857

NM_001370466.1(NOD2):c.1894G>A (p.Val632Met)

SNV
Germline

Chr16:50711886

Conflicting classifications of pathogenicity

Blau syndrome
Regional enteritis
Blau syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8051660

rs_570167996

3 SubmittersRCV002555870 RCV003132207 RCV003160562

NM_001370466.1(NOD2):c.2776A>G (p.Lys926Glu)

SNV
Germline

Chr16:50723359

Conflicting classifications of pathogenicity

Condition: not provided
Regional enteritis
Blau syndrome

Criteria Provided
Conflicting Classifications

CA8052001

rs_375705174

2 SubmittersRCV003405265 RCV002553818

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

CA8051249

rs_113706344

2 SubmittersRCV001118091 RCV001784654 RCV002556510

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
Blau syndrome
Inflammatory bowel disease 1
Yao syndrome

Criteria Provided
Conflicting Classifications

CA8051252

rs_571102620

3 SubmittersRCV001118094 RCV001784655 RCV003769161 RCV005394748

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

CA8051374

rs_529640892

5 SubmittersRCV001118204 RCV001784656 RCV002558169 RCV003346329 RCV003328652

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

CA8052002

rs_758223679

2 SubmittersRCV001120150 RCV001784658 RCV002558191

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

CA281285390

rs_547264433

1 SubmittersRCV001116963 RCV001784652

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

CA8051492

rs_779346494

2 SubmittersRCV002563147 RCV002563709

NM_001370466.1(NOD2):c.1322G>A (p.Arg441His)

SNV
Germline

Chr16:50711314

Conflicting classifications of pathogenicity

Autoinflammatory syndrome
Regional enteritis
Blau syndrome

Criteria Provided
Conflicting Classifications

CA8051540

rs_775728252

2 SubmittersRCV002264239 RCV002563246

NM_001370466.1(NOD2):c.1340A>G (p.Gln447Arg)

SNV
Germline

Chr16:50711332

Conflicting classifications of pathogenicity

Regional enteritis
Blau syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8051545

rs_367819045

2 SubmittersRCV002563255 RCV003166457

NM_001370466.1(NOD2):c.133G>A (p.Glu45Lys)

SNV
Germline

Chr16:50699628

Conflicting classifications of pathogenicity

Regional enteritis
Blau syndrome
Blau syndrome

Criteria Provided
Conflicting Classifications

CA8051221

rs_760069458

2 SubmittersRCV002564001 RCV003339557

NM_001370466.1(NOD2):c.299C>T (p.Ser100Leu)

SNV
Germline

Chr16:50699794

Conflicting classifications of pathogenicity

Blau syndrome
Regional enteritis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8051266

rs_146395646

2 SubmittersRCV002541842 RCV006450928

NM_001370466.1(NOD2):c.2298G>A (p.Val766=)

SNV
Germline

Chr16:50712290

Conflicting classifications of pathogenicity

Blau syndrome
Blau syndrome
Regional enteritis

Criteria Provided
Conflicting Classifications

CA8051764

rs_534738790

2 SubmittersRCV002227515 RCV002543140

NM_001370466.1(NOD2):c.1088A>T (p.Asp363Val)

SNV
Germline

Chr16:50711080

Conflicting classifications of pathogenicity

Autoinflammatory syndrome
Condition: not provided
Regional enteritis
Blau syndrome

Criteria Provided
Conflicting Classifications

CA8051481

rs_769622495

5 SubmittersRCV002264274 RCV001729854 RCV002547466

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

CA495778285

rs_199951979

2 SubmittersRCV002261359 RCV002554064

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

CA8051497

rs_749142500

2 SubmittersRCV002264308 RCV002555106

NM_001370466.1(NOD2):c.1898C>G (p.Ala633Gly)

SNV
Germline

Chr16:50711890

Conflicting classifications of pathogenicity

Regional enteritis
Blau syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8051661

rs_111400183

2 SubmittersRCV002555097 RCV006450967

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

CA8051999

rs_527892258

2 SubmittersRCV002551594 RCV002551593

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
not specified

Criteria Provided
Conflicting Classifications

CA495779189

rs_1164125645

4 SubmittersRCV002261361 RCV002555120 RCV003738068 RCV005057389

NM_001370466.1(NOD2):c.1462C>T (p.Leu488=)

SNV
Germline

Chr16:50711454

Conflicting classifications of pathogenicity

Autoinflammatory syndrome
Blau syndrome
Regional enteritis

Criteria Provided
Conflicting Classifications

CA495778873

rs_1318205250

2 SubmittersRCV002261366 RCV002561306

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

CA281263316

rs_369719210

2 SubmittersRCV002261368 RCV002564156

NM_001370466.1(NOD2):c.2381+7G>T

SNV
Germline

Chr16:50712380

Conflicting classifications of pathogenicity

Autoinflammatory syndrome
Blau syndrome
Regional enteritis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8051774

rs_202111813

3 SubmittersRCV002261369 RCV002568021 RCV006451004

NM_001370466.1(NOD2):c.1390A>C (p.Met464Leu)

SNV
Germline

Chr16:50711382

Likely pathogenic

Blau syndrome

No Assertion Criteria Provided

CA395868988

rs_2150810705

1 SubmittersRCV001542792

NM_001370466.1(NOD2):c.1709C>T (p.Ala570Val)

SNV
Germline

Chr16:50711701

Conflicting classifications of pathogenicity

Blau syndrome
Inflammatory bowel disease 1
Autoinflammatory syndrome
Regional enteritis
Blau syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8051626

rs_377554134

5 SubmittersRCV001882057 RCV002261409 RCV002553615 RCV004693887 RCV006453786

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

CA395869684

rs_1964520477

2 SubmittersRCV002563634 RCV003989740

NM_001370466.1(NOD2):c.1234C>T (p.Arg412Cys)

SNV
Germline

Chr16:50711226

Conflicting classifications of pathogenicity

Blau syndrome
Regional enteritis
Inflammatory bowel disease 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8051518

rs_375201229

3 SubmittersRCV002592534 RCV003136411 RCV005242142

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

CA8052021

rs_371389581

2 SubmittersRCV002545368 RCV003426217

NM_001370466.1(NOD2):c.2177G>A (p.Arg726Gln)

SNV
Germline

Chr16:50712169

Conflicting classifications of pathogenicity

Regional enteritis
Blau syndrome
Blau syndrome

Criteria Provided
Conflicting Classifications

CA8051742

rs_774888496

2 SubmittersRCV003093827 RCV005361984

NM_001370466.1(NOD2):c.162C>T (p.Leu54=)

SNV
Germline

Chr16:50699657

Conflicting classifications of pathogenicity

Autoinflammatory syndrome
Blau syndrome
Regional enteritis

Criteria Provided
Conflicting Classifications

CA495778274

rs_1963835517

2 SubmittersRCV002261457 RCV003070654

NM_001370466.1(NOD2):c.2619C>T (p.Ser873=)

SNV
Germline

Chr16:50719994

Conflicting classifications of pathogenicity

Autoinflammatory syndrome
Regional enteritis
Blau syndrome

Criteria Provided
Conflicting Classifications

CA8051928

rs_759227592

2 SubmittersRCV002261448 RCV002551322

NM_001370466.1(NOD2):c.2595C>T (p.Ala865=)

SNV
Germline

Chr16:50719970

Conflicting classifications of pathogenicity

Autoinflammatory syndrome
Regional enteritis
Blau syndrome

Criteria Provided
Conflicting Classifications

CA8051920

rs_375012324

2 SubmittersRCV002261447 RCV002551318

NM_001370466.1(NOD2):c.963A>G (p.Leu321=)

SNV
Germline

Chr16:50710955

Conflicting classifications of pathogenicity

Inflammatory bowel disease 1
Blau syndrome
Psoriatic arthritis, susceptibility to
Yao syndrome
Blau syndrome
Regional enteritis

Criteria Provided
Conflicting Classifications

CA495778483

rs_2150808670

2 SubmittersRCV002208760 RCV003089103

NM_001370466.1(NOD2):c.1605C>T (p.Cys535=)

SNV
Germline

Chr16:50711597

Conflicting classifications of pathogenicity

Autoinflammatory syndrome
Blau syndrome
Regional enteritis

Criteria Provided
Conflicting Classifications

CA495778651

rs_2150811696

2 SubmittersRCV002261974 RCV006558710

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

CA8051692

rs_139104022

2 SubmittersRCV002261977 RCV003095915

NM_001370466.1(NOD2):c.2572G>C (p.Ala858Pro)

SNV
Germline

Chr16:50719947

Conflicting classifications of pathogenicity

Autoinflammatory syndrome
Blau syndrome
Regional enteritis

Criteria Provided
Conflicting Classifications

CA8051911

rs_759456303

2 SubmittersRCV002261979 RCV003095917

NM_001370466.1(NOD2):c.545C>T (p.Pro182Leu)

SNV
Germline

Chr16:50707940

Conflicting classifications of pathogenicity

Autoinflammatory syndrome
Regional enteritis
Blau syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8051337

rs_753744335

3 SubmittersRCV002261985 RCV003774808 RCV005455538

NM_001370466.1(NOD2):c.-7T>C

SNV
Germline

Chr16:50699489

Conflicting classifications of pathogenicity

Autoinflammatory syndrome
Blau syndrome
Regional enteritis

Criteria Provided
Conflicting Classifications

CA8051195

rs_371044393

2 SubmittersRCV002261988 RCV003095918

NM_001370466.1(NOD2):c.725C>T (p.Pro242Leu)

SNV
Germline

Chr16:50710717

Conflicting classifications of pathogenicity

Regional enteritis
Blau syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8051399

rs_774703072

3 SubmittersRCV003071323 RCV004960954 RCV006451314

NM_001370466.1(NOD2):c.2948A>G (p.Asn983Ser)

SNV
Germline

Chr16:50729880

Conflicting classifications of pathogenicity

Regional enteritis
Blau syndrome
NOD2-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8052050

rs_367905706

3 SubmittersRCV003080559 RCV003420342 RCV004809902

NM_001370466.1(NOD2):c.383T>A (p.Leu128Gln)

SNV
Germline

Chr16:50699878

Conflicting classifications of pathogenicity

Blau syndrome
Regional enteritis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8051283

rs_148753593

2 SubmittersRCV002942228 RCV004067158

NM_001370466.1(NOD2):c.1068G>C (p.Glu356Asp)

SNV
Germline

Chr16:50711060

Pathogenic

Regional enteritis
Blau syndrome

Criteria Provided
Single Submitter

CA395868325

rs_2506403400

1 SubmittersRCV003780084

NM_001370466.1(NOD2):c.1295G>A (p.Arg432His)

SNV
Germline

Chr16:50711287

Conflicting classifications of pathogenicity

Blau syndrome
Regional enteritis
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8051530

rs_753458507

2 SubmittersRCV003780335 RCV005445963

NM_001370466.1(NOD2):c.2344C>A (p.Gln782Lys)

SNV
Germline

Chr16:50712336

Pathogenic

Blau syndrome

No Assertion Criteria Provided

1 SubmittersRCV005862056