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*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Arthritis (D001168)
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Synovitis (D013585)
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Uveitis (D014605)
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Blau syndrome (C538157)

       Child Nodes:



 Sister Nodes: 
..expandAnsell Bywaters Elderking syndrome (C537773)
..expandBlau syndrome (C538157)
..expandPanuveitis (D015864) Child13
..expandTubulointerstitial nephritis and uveitis (C536922)
..expandUveitis, Intermediate (D015867) Child2
..expandUveitis, Suppurative (D015829) Child1
..expandUveomeningoencephalitic Syndrome (D014607)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:1394
Name:Blau syndrome
Definition:
Alternative IDs:OMIM:186580
ParentIDs:MESH:D001168|MESH:D013585|MESH:D014605
TreeNumbers:C05.550.114/C538157 |C05.550.870/C538157 |C11.941.879/C538157
Synonyms:ACUG |Arthrocutaneouveal granulomatosis |BLAUS |Early-Onset Sarcoidosis |EOS |Familial Granulomatosis, Blau Type |Familial Juvenile Systemic Granulomatosis |Granulomatosis, familial, Blau type |Granulomatosis, familial juvenile systemic |Granulomatous inflammator
Slim Mappings:Eye disease|Musculoskeletal disease
Reference: MedGen: C538157
MeSH: C538157
OMIM: 186580;
MSeqDR LSDB:  
Genes: NOD2;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001291Abnormality of the cranial nerves
3 HP:0000598Abnormality of the ear
NAMDC:  Otologic
4 HP:0001369Arthritis
5 HP:0000585Band keratopathy
6 HP:0100490Camptodactyly of finger
7 HP:0000518Cataract
NAMDC:  Cataracts
8 HP:0011505Cystoid macular edema
9 HP:0000964Eczema
10 HP:0005830Flexion contracture of toe
11 HP:0000501Glaucoma
12 HP:0007432Intermittent generalized erythematous papular rash
13 HP:0001101Iritis
14 HP:0001386Joint swelling
15 HP:0007813Nongranulomatous uveitis
16 HP:0200042Skin ulcer
17 HP:0100769Synovitis
18 HP:0025230Tendonitis
19 HP:0000554Uveitis
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001370466.1(NOD2):c.-8-2340del64127NOD2Likely benignrs5743265RCV000286182|RCV000345768; NMONDO:MONDO:0005011,MedGen:CN043071|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165073105950731059ATA16:g.50731059_50731059delClinGen:CA10647583
NM_001370466.1(NOD2):c.-8-2303G>A64127NOD2Benignrs2076752RCV000291691|RCV000381375; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165073109650731096GA16:g.50731096G>AClinGen:CA10637842
NM_001370466.1(NOD2):c.-8-2302T>C64127NOD2Benign/Likely benignrs139485985RCV000346470|RCV000403095; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165073109750731097TC16:g.50731097T>CClinGen:CA10648441
NM_001370466.1(NOD2):c.-8-2297C>T64127NOD2Uncertain significancers188341692RCV000292920|RCV000352440; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165073110250731102CT16:g.50731102C>TClinGen:CA10643709
NM_001370466.1(NOD2):c.-8-2258C>T64127NOD2Benign/Likely benignrs117611225RCV000298882|RCV000394748; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165073114150731141CT16:g.50731141C>TClinGen:CA8051157
NM_001370466.1(NOD2):c.-8-2243T>C64127NOD2Uncertain significancers765406921RCV000638039; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165073115650731156TC16:g.50731156T>CClinGen:CA8051160C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.-8-2238G>C64127NOD2Uncertain significancers976567823RCV000638059; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165073116150731161GC16:g.50731161G>CClinGen:CA281248056C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.-8-2223del64127NOD2Uncertain significance-1RCV001047940; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165073117650731176AGA16:g.50731176_50731176del-
NM_001370466.1(NOD2):c.-8-2202A>G64127NOD2Uncertain significance-1RCV001116651|RCV001116652; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165073119750731197AG16:g.50731197A>G-
NM_001370466.1(NOD2):c.-8-2193G>A64127NOD2Uncertain significancers886052043RCV000356668|RCV000394751; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165073120650731206GA16:g.50731206G>AClinGen:CA10643713
NM_001370466.1(NOD2):c.-8-2184G>A64127NOD2Uncertain significancers771671839RCV000814059; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165073121550731215GA16:g.50731215G>A-
NM_001370466.1(NOD2):c.-8-2174C>T64127NOD2Likely benignrs149122717RCV000936194; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165073122550731225CT16:g.50731225C>T-
NM_001370466.1(NOD2):c.-8-7T>A64127NOD2Conflicting interpretations of pathogenicityrs104895421RCV000202800|RCV000302918|RCV000357679|RCV000638071; NMedGen:CN169374|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165073339250733392TA16:g.50733392T>AClinGen:CA213421C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1A>G (p.Met1Val)64127NOD2Uncertain significancers372321755RCV000819376; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165073340750733407AG16:g.50733407A>G-
NM_001370466.1(NOD2):c.8C>G (p.Ser3Trp)64127NOD2Uncertain significance-1RCV001203370; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165073341450733414CG16:g.50733414C>G-
NM_001370466.1(NOD2):c.22C>T (p.Gln8Ter)64127NOD2Uncertain significancers1567380372RCV000705663; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165073342850733428CT16:g.50733428C>T-C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.32G>T (p.Arg11Met)64127NOD2not providedrs104895487RCV000084075; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165073343850733438GT16:g.50733438G>TClinGen:CA150175C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.43G>C (p.Val15Leu)64127NOD2Uncertain significance-1RCV001246719; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165073344950733449GC16:g.50733449G>C-
NM_001370466.1(NOD2):c.45C>T (p.Val15=)64127NOD2Likely benignrs766815592RCV000638064; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165073345150733451CT16:g.50733451C>TClinGen:CA8051202
NM_001370466.1(NOD2):c.46G>A (p.Glu16Lys)64127NOD2Uncertain significancers200089552RCV000533853; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165073345250733452GA16:g.50733452G>AClinGen:CA8051203
NM_001370466.1(NOD2):c.50T>A (p.Leu17Gln)64127NOD2Uncertain significancers757914381RCV000811867; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165073345650733456TA16:g.50733456T>A-
NM_001370466.1(NOD2):c.59C>T (p.Ser20Leu)64127NOD2Conflicting interpretations of pathogenicityrs201586544RCV000267570|RCV000322676|RCV000546343; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165073346550733465CT16:g.50733465C>TClinGen:CA8051207
NM_001370466.1(NOD2):c.119C>G (p.Ser40Cys)64127NOD2Uncertain significancers146149433RCV000821404; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165073352550733525CG16:g.50733525C>G-
NM_001370466.1(NOD2):c.133G>A (p.Glu45Lys)64127NOD2Uncertain significance-1RCV001241438; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165073353950733539GA16:g.50733539G>A-
NM_022162.2(NOD2):c.241C>G (p.Leu81Val)64127NOD2Likely benignrs34936594RCV000258045|RCV000981774; NMONDO:MONDO:0007191,MedGen:C0004943,OMIM:109650, Orphanet:117|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165073356650733566CG16:g.50733566C>GClinGen:CA8051231C0004943 109650 Behcet's syndrome;
NM_001370466.1(NOD2):c.178C>T (p.Arg60Cys)64127NOD2Uncertain significancers374128251RCV000698531; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165073358450733584CT16:g.50733584C>T-C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.192C>T (p.Thr64=)64127NOD2Likely benignrs146923251RCV000922032; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165073359850733598CT16:g.50733598C>T-
NM_001370466.1(NOD2):c.193G>A (p.Val65Ile)64127NOD2Conflicting interpretations of pathogenicityrs187264529RCV000268742|RCV000363251; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165073359950733599GA16:g.50733599G>AClinGen:CA8051239
NM_001370466.1(NOD2):c.193G>T (p.Val65Phe)64127NOD2Uncertain significancers187264529RCV000817128; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165073359950733599GT16:g.50733599G>T-
NM_001370466.1(NOD2):c.198G>A (p.Trp66Ter)64127NOD2Uncertain significancers761449474RCV000778464; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165073360450733604GA16:g.50733604G>A-
NM_001370466.1(NOD2):c.230T>C (p.Ile77Thr)64127NOD2Uncertain significance-1RCV001221624; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165073363650733636TC16:g.50733636T>C-
NM_001370466.1(NOD2):c.232G>A (p.Ala78Thr)64127NOD2Conflicting interpretations of pathogenicity-1RCV001118091|RCV001118092; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165073363850733638GA16:g.50733638G>A-
NM_001370466.1(NOD2):c.233C>T (p.Ala78Val)64127NOD2Uncertain significancers202052365RCV000638053; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165073363950733639CT16:g.50733639C>TClinGen:CA8051250
NM_001370466.1(NOD2):c.234G>A (p.Ala78=)64127NOD2Benignrs104895419RCV000084132|RCV000889934; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165073364050733640GA16:g.50733640G>AClinGen:CA150327C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.247G>A (p.Ala83Thr)64127NOD2Conflicting interpretations of pathogenicity-1RCV001118093|RCV001118094; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165073365350733653GA16:g.50733653G>A-
NM_001370466.1(NOD2):c.256G>A (p.Asp86Asn)64127NOD2Uncertain significancers104895468RCV000084133|RCV001233340; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165073366250733662GA16:g.50733662G>AClinGen:CA150330,UniProtKB:Q9HC29#VAR_073228C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.258C>T (p.Asp86=)64127NOD2Benignrs138889062RCV000974785; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165073366450733664CT16:g.50733664C>T-
NM_001370466.1(NOD2):c.276G>T (p.Leu92=)64127NOD2not providedrs672601267RCV000084161; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165073368250733682GT16:g.50733682G>TClinGen:CA150377C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.293C>T (p.Pro98Leu)64127NOD2Likely benignrs149390911RCV000638076; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165073369950733699CT16:g.50733699C>TClinGen:CA8051262C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.295C>G (p.His99Asp)64127NOD2Uncertain significance-1RCV001065781; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165073370150733701CG16:g.50733701C>G-
NM_001370466.1(NOD2):c.323_324AG[1] (p.His110fs)64127NOD2Uncertain significancers1567381106RCV000703634; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165073372950733730CAGC16:g.50733729_50733730del-C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.332G>A (p.Arg111Gln)64127NOD2Conflicting interpretations of pathogenicityrs104895456RCV000328861|RCV000383429|RCV000687315; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165073373850733738GA16:g.50733738G>AClinGen:CA150333C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.337G>A (p.Ala113Thr)64127NOD2Benignrs34684955RCV000542726|RCV001001907|RCV001119633|RCV001119634; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MedGen:CN169374|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165073374350733743GA16:g.50733743G>AClinGen:CA8051275C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.379G>A (p.Asp127Asn)64127NOD2Conflicting interpretations of pathogenicityrs146054564RCV000293848|RCV000330156|RCV000884868|RCV001000663; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MedGen:CN169374165073378550733785GA16:g.50733785G>AClinGen:CA8051281C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.388T>C (p.Trp130Arg)64127NOD2not providedrs104895420RCV000084135; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165073379450733794TC16:g.50733794T>CClinGen:CA150336,UniProtKB:Q9HC29#VAR_012666C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.394C>T (p.Arg132Trp)64127NOD2Uncertain significance-1RCV001055521; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165073380050733800CT16:g.50733800C>T-
NM_001370466.1(NOD2):c.395G>A (p.Arg132Gln)64127NOD2Uncertain significancers150996156RCV000638046; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165073380150733801GA16:g.50733801G>AClinGen:CA281250492
NM_001370466.1(NOD2):c.402C>T (p.Phe134=)64127NOD2Benignrs565504727RCV000908860; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165073380850733808CT16:g.50733808C>T-
NM_001370466.1(NOD2):c.403G>A (p.Val135Ile)64127NOD2Conflicting interpretations of pathogenicityrs139571975RCV000295019|RCV000389105|RCV000817583; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165073380950733809GA16:g.50733809G>AClinGen:CA8051288
NM_001370466.1(NOD2):c.417A>T (p.Glu139Asp)64127NOD2Uncertain significance-1RCV001064491; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165073382350733823AT16:g.50733823A>T-
NM_001370466.1(NOD2):c.435G>C (p.Leu145Phe)64127NOD2Uncertain significance-1RCV001119635|RCV001121629; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165073384150733841GC16:g.50733841G>C-
NM_001370466.1(NOD2):c.437C>T (p.Pro146Leu)64127NOD2Uncertain significance-1RCV001047498; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165073384350733843CT16:g.50733843C>T-
NM_001370466.1(NOD2):c.449C>T (p.Pro150Leu)64127NOD2Uncertain significance-1RCV001229643; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165073385550733855CT16:g.50733855C>T-
NM_001370466.1(NOD2):c.450G>A (p.Pro150=)64127NOD2Conflicting interpretations of pathogenicityrs775281342RCV000335907|RCV000404856; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165073385650733856GA16:g.50733856G>AClinGen:CA8051299
NM_001370466.1(NOD2):c.453C>G (p.Ser151=)64127NOD2Benignrs2067085RCV000282231|RCV000337291|RCV000455397; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MedGen:CN169374165073385950733859CG16:g.50733859C>GClinGen:CA8051300
NM_001370466.1(NOD2):c.460-3T>C64127NOD2Benignrs141833420RCV000302210|RCV000403040|RCV000555171; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074176350741763TC16:g.50741763T>CClinGen:CA8051315
NM_001370466.1(NOD2):c.461C>A (p.Ala154Glu)64127NOD2Uncertain significance-1RCV001070831; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074176750741767CA16:g.50741767C>A-
NM_001370466.1(NOD2):c.485C>T (p.Thr162Met)64127NOD2Conflicting interpretations of pathogenicityrs61755182RCV000361709|RCV000585590|RCV001000739|RCV001079214|RCV001121630; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074179150741791CT16:g.50741791C>TClinGen:CA8051320,UniProtKB:Q9HC29#VAR_012667C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.486G>A (p.Thr162=)64127NOD2Benign/Likely benignrs144887729RCV000970549|RCV001085763; NMedGen:CN517202|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074179250741792GA16:g.50741792G>A-
NM_001370466.1(NOD2):c.494C>T (p.Ala165Val)64127NOD2Uncertain significance-1RCV001054009; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074180050741800CT16:g.50741800C>T-
NM_001370466.1(NOD2):c.497A>G (p.Asn166Ser)64127NOD2Uncertain significance-1RCV001224581; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074180350741803AG16:g.50741803A>G-
NM_001370466.1(NOD2):c.509C>A (p.Ala170Asp)64127NOD2Uncertain significance-1RCV001116755|RCV001116756; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074181550741815CA16:g.50741815C>A-
NM_001370466.1(NOD2):c.544C>T (p.Pro182Ser)64127NOD2Uncertain significancers143080077RCV000704742; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074185050741850CT16:g.50741850C>T-C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.552C>T (p.Ala184=)64127NOD2Conflicting interpretations of pathogenicityrs5743269RCV000308251|RCV000396586|RCV000887072; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074185850741858CT16:g.50741858C>TClinGen:CA8051339
NM_001370466.1(NOD2):c.565+15T>C64127NOD2Benign/Likely benignrs765487015RCV000271285|RCV000362956; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074188650741886TC16:g.50741886T>CClinGen:CA8051344
NM_001370466.1(NOD2):c.572C>T (p.Thr191Ile)64127NOD2Uncertain significance-1RCV001116757|RCV001118203; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074447550744475CT16:g.50744475C>T-
NM_001370466.1(NOD2):c.605C>T (p.Thr202Met)64127NOD2Conflicting interpretations of pathogenicity-1RCV001118204|RCV001118205; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074450850744508CT16:g.50744508C>T-
NM_001370466.1(NOD2):c.606G>A (p.Thr202=)64127NOD2Likely benignrs771003092RCV000944902; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074450950744509GA16:g.50744509G>A-
NM_001370466.1(NOD2):c.616C>T (p.Gln206Ter)64127NOD2Uncertain significance-1RCV001053914|RCV001195504; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MedGen:CN169374165074451950744519CT16:g.50744519C>T-
NM_001370466.1(NOD2):c.617A>C (p.Gln206Pro)64127NOD2Uncertain significancers369098290RCV000638040; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074452050744520AC16:g.50744520A>CClinGen:CA8051377C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.622C>T (p.Arg208Cys)64127NOD2Conflicting interpretations of pathogenicityrs104895422RCV000328605|RCV000366926|RCV000807310; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074452550744525CT16:g.50744525C>TClinGen:CA150339,UniProtKB:Q9HC29#VAR_012668
NM_001370466.1(NOD2):c.631A>T (p.Ser211Cys)64127NOD2Uncertain significancers1001861018RCV000638055; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074453450744534AT16:g.50744534A>TClinGen:CA395867405C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.631A>G (p.Ser211Gly)64127NOD2Uncertain significance-1RCV001235652; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074453450744534AG16:g.50744534A>G-
NM_001370466.1(NOD2):c.638A>G (p.Tyr213Cys)64127NOD2Uncertain significancers202190367RCV000804566; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074454150744541AG16:g.50744541A>G-
NM_001370466.1(NOD2):c.653C>T (p.Thr218Met)64127NOD2Likely benignrs148516118RCV000274697|RCV000331991; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074455650744556CT16:g.50744556C>TClinGen:CA8051383
NM_001370466.1(NOD2):c.659G>T (p.Cys220Phe)64127NOD2Uncertain significance-1RCV001205636; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074456250744562GT16:g.50744562G>T-
NM_001370466.1(NOD2):c.662T>G (p.Leu221Arg)64127NOD2Benignrs104895423RCV000084138|RCV000638074; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074456550744565TG16:g.50744565T>GUniProtKB:Q9HC29#VAR_012669,ClinGen:CA150342C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.665A>G (p.Glu222Gly)64127NOD2Uncertain significancers117836686RCV000638056; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074456850744568AG16:g.50744568A>GClinGen:CA8051389C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.706G>A (p.Val236Met)64127NOD2Uncertain significance-1RCV001243328; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074460950744609GA16:g.50744609G>A-
NM_001370466.1(NOD2):c.721C>T (p.Pro241Ser)64127NOD2Benignrs2066842RCV000278144|RCV000388922|RCV000455970; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MedGen:CN169374165074462450744624CT16:g.50744624C>TClinGen:CA8051397,UniProtKB:Q9HC29#VAR_012670C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.726G>A (p.Pro242=)64127NOD2Conflicting interpretations of pathogenicityrs369766454RCV000316867|RCV000375919|RCV000585355; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MedGen:CN517202165074462950744629GA16:g.50744629G>AClinGen:CA8051400C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.735C>T (p.Ser245=)64127NOD2Benignrs35090774RCV000539078; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074463850744638CT16:g.50744638C>TClinGen:CA8051403
NM_001370466.1(NOD2):c.747G>A (p.Leu249=)64127NOD2Conflicting interpretations of pathogenicityrs763504952RCV000283786|RCV000341177; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074465050744650GA16:g.50744650G>AClinGen:CA8051407C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.760C>T (p.Leu254Phe)64127NOD2Conflicting interpretations of pathogenicityrs756943416RCV000287407|RCV000379493|RCV000915917; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074466350744663CT16:g.50744663C>TClinGen:CA8051409C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.778C>T (p.His260Tyr)64127NOD2Conflicting interpretations of pathogenicityrs560242309RCV000344671|RCV000404141; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074468150744681CT16:g.50744681C>TClinGen:CA8051412C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.781del (p.Leu261fs)64127NOD2Uncertain significance-1RCV001218599; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074468350744683ACA16:g.50744683_50744683del-
NM_001370466.1(NOD2):c.785A>G (p.Asn262Ser)64127NOD2Benign/Likely benignrs5743271RCV000309629|RCV000638069|RCV001002033|RCV001121730; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MedGen:CN169374|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074468850744688AG16:g.50744688A>GClinGen:CA8051413,UniProtKB:Q9HC29#VAR_012671C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.789C>T (p.Asp263=)64127NOD2Conflicting interpretations of pathogenicityrs749180535RCV000944413|RCV001121731|RCV001121732; NMedGen:CN517202|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074469250744692CT16:g.50744692C>T-
NM_001370466.1(NOD2):c.790G>A (p.Asp264Asn)64127NOD2not providedrs104895424RCV000084139; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074469350744693GA16:g.50744693G>AClinGen:CA150345,UniProtKB:Q9HC29#VAR_012672C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.794C>T (p.Ala265Val)64127NOD2Conflicting interpretations of pathogenicityrs149338478RCV000347725|RCV000397301|RCV000955513; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074469750744697CT16:g.50744697C>TClinGen:CA8051417C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.800C>G (p.Thr267Ser)64127NOD2Conflicting interpretations of pathogenicityrs104895425RCV000084140|RCV000312783|RCV000895390; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074470350744703CG16:g.50744703C>GClinGen:CA150348,UniProtKB:Q9HC29#VAR_012673CN043071 Crohn disease;
NM_001370466.1(NOD2):c.821C>T (p.Ala274Val)64127NOD2Uncertain significancers104895426RCV000084141|RCV001215416; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074472450744724CT16:g.50744724C>TClinGen:CA150351,UniProtKB:Q9HC29#VAR_012674
NM_001370466.1(NOD2):c.839C>T (p.Thr280Met)64127NOD2Uncertain significance-1RCV001072083; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074474250744742CT16:g.50744742C>T-
NM_001370466.1(NOD2):c.840G>A (p.Thr280=)64127NOD2Likely benignrs376601025RCV000638066; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074474350744743GA16:g.50744743G>AClinGen:CA8051424
NM_001370466.1(NOD2):c.841C>T (p.Leu281Phe)64127NOD2Uncertain significance-1RCV001048800; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074474450744744CT16:g.50744744C>T-
NM_001370466.1(NOD2):c.845T>C (p.Leu282Pro)64127NOD2Uncertain significance-1RCV001203123; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074474850744748TC16:g.50744748T>C-
NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp)64127NOD2Conflicting interpretations of pathogenicityrs104895427RCV000178335|RCV000369785|RCV000768031|RCV000785614|RCV001080556; NMedGen:CN517202|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0015019,MedGen:C4310620,OMIM:617321; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:000165074475350744753CT16:g.50744753C>TClinGen:CA150354,UniProtKB:Q9HC29#VAR_012675
NM_001370466.1(NOD2):c.919C>T (p.Arg307Trp)64127NOD2Pathogenicrs104895462RCV000004960|RCV000638054; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074482250744822CT16:g.50744822C>TClinGen:CA117022,UniProtKB:Q9HC29#VAR_012677,OMIM:605956.0006C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.920G>A (p.Arg307Gln)64127NOD2Pathogenicrs104895461RCV000004958|RCV000482720|RCV000700396; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MedGen:CN517202|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074482350744823GA16:g.50744823G>AClinGen:CA117018,UniProtKB:Q9HC29#VAR_012676,OMIM:605956.0004C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.938C>G (p.Ala313Gly)64127NOD2Uncertain significancers774016655RCV000812416; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074484150744841CG16:g.50744841C>G-
NM_001370466.1(NOD2):c.947T>C (p.Leu316Pro)64127NOD2Uncertain significancers369732140RCV000705477; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074485050744850TC16:g.50744850T>C-C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.956G>A (p.Arg319Gln)64127NOD2Uncertain significance-1RCV001215275; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074485950744859GA16:g.50744859G>A-
NM_001370466.1(NOD2):c.961C>G (p.Leu321Val)64127NOD2not providedrs104895428RCV000084071; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074486450744864CG16:g.50744864C>GClinGen:CA150163,UniProtKB:Q9HC29#VAR_012678C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.974A>G (p.His325Arg)64127NOD2Benignrs5743272RCV000545990; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074487750744877AG16:g.50744877A>GClinGen:CA8051452C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.984G>A (p.Trp328Ter)64127NOD2not providedrs104895488RCV000084072; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074488750744887GA16:g.50744887G>AClinGen:CA150166C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.989A>C (p.Asp330Ala)64127NOD2Conflicting interpretations of pathogenicityrs104895469RCV000084073|RCV000883347|RCV001116867; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074489250744892AC16:g.50744892A>CUniProtKB:Q9HC29#VAR_073229,ClinGen:CA150169C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.989A>G (p.Asp330Gly)64127NOD2Uncertain significance-1RCV001243257; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074489250744892AG16:g.50744892A>G-
NM_001370466.1(NOD2):c.1003del (p.Asp335fs)64127NOD2Uncertain significance-1RCV001237247; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074490650744906AGA16:g.50744906_50744906del-
NM_001370466.1(NOD2):c.1006A>T (p.Ile336Phe)64127NOD2Uncertain significancers104895470RCV000084074|RCV000686592; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074490950744909AT16:g.50744909A>TClinGen:CA150172,UniProtKB:Q9HC29#VAR_073230C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1022T>C (p.Leu341Pro)64127NOD2Uncertain significance-1RCV001051529; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074492550744925TC16:g.50744925T>C-
NM_001370466.1(NOD2):c.1036C>T (p.Arg346Cys)64127NOD2Uncertain significancers145293873RCV000084160|RCV000796319; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074493950744939CT16:g.50744939C>TUniProtKB:Q9HC29#VAR_012680,ClinGen:CA150374
NM_001370466.1(NOD2):c.1058G>A (p.Gly353Asp)64127NOD2Uncertain significance-1RCV001040250; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074496150744961GA16:g.50744961G>A-
NM_001370466.1(NOD2):c.1065C>G (p.Asp355Glu)64127NOD2Pathogenicrs104895476RCV000416482; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074496850744968CG16:g.50744968C>GClinGen:CA117027,UniProtKB:Q9HC29#VAR_023822,OMIM:605956.0009C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1066G>A (p.Glu356Lys)64127NOD2Pathogenicrs104895477RCV000004966|RCV000638049; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074496950744969GA16:g.50744969G>AClinGen:CA117031,UniProtKB:Q9HC29#VAR_023823,OMIM:605956.0011C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1067A>G (p.Glu356Gly)64127NOD2not providedrs104895493RCV000084077; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074497050744970AG16:g.50744970A>GClinGen:CA150178,UniProtKB:Q9HC29#VAR_073231C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.1070T>A (p.Phe357Tyr)64127NOD2Uncertain significancers777343284RCV000706392; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074497350744973TA16:g.50744973T>A-C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1087G>A (p.Asp363Asn)64127NOD2Uncertain significance-1RCV001230667; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074499050744990GA16:g.50744990G>A-
NM_001370466.1(NOD2):c.1090C>T (p.Arg364Cys)64127NOD2not providedrs104895481RCV000084078; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074499350744993CT16:g.50744993C>TClinGen:CA150181,UniProtKB:Q9HC29#VAR_073232C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.1091G>A (p.Arg364His)64127NOD2Benign/Likely benignrs554887705RCV000297632|RCV000354848|RCV000638070; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MedGen:CN517202165074499450744994GA16:g.50744994G>AClinGen:CA8051482C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1096C>T (p.Arg366Cys)64127NOD2Uncertain significance-1RCV001058805; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074499950744999CT16:g.50744999C>T-
NM_001370466.1(NOD2):c.1097G>A (p.Arg366His)64127NOD2Uncertain significancers140918872RCV000686777; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074500050745000GA16:g.50745000G>A-C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1109C>T (p.Pro370Leu)64127NOD2Conflicting interpretations of pathogenicityrs150078153RCV000638044|RCV001116868|RCV001118317; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074501250745012CT16:g.50745012C>TClinGen:CA8051488C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1113C>T (p.Thr371=)64127NOD2Benignrs5743273RCV000926126; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074501650745016CT16:g.50745016C>T-
NM_001370466.1(NOD2):c.1118C>T (p.Pro373Leu)64127NOD2Uncertain significance-1RCV001228742; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074502150745021CT16:g.50745021C>T-
NM_001370466.1(NOD2):c.1124C>T (p.Ser375Phe)64127NOD2Uncertain significance-1RCV001229652; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074502750745027CT16:g.50745027C>T-
NM_001370466.1(NOD2):c.1160A>G (p.Asn387Ser)64127NOD2Uncertain significancers104895429RCV000084079|RCV000694007; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074506350745063AG16:g.50745063A>GClinGen:CA150184,UniProtKB:Q9HC29#VAR_012681C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1188G>T (p.Val396=)64127NOD2Benign/Likely benignrs77966199RCV000262469|RCV000319318|RCV000558384; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074509150745091GT16:g.50745091G>TClinGen:CA8051500C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1188G>A (p.Val396=)64127NOD2Conflicting interpretations of pathogenicityrs77966199RCV000899051|RCV001118318|RCV001118319; NMedGen:CN517202|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074509150745091GA16:g.50745091G>A-
NM_001370466.1(NOD2):c.1190C>A (p.Thr397Asn)64127NOD2Uncertain significancers1596864349RCV000804543; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074509350745093CA16:g.50745093C>A-
NM_001370466.1(NOD2):c.1196G>A (p.Arg399His)64127NOD2Uncertain significancers562225614RCV000638045; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074509950745099GA16:g.50745099G>AClinGen:CA8051502
NM_001370466.1(NOD2):c.1198C>T (p.Pro400Ser)64127NOD2Uncertain significancers760982375RCV000638042; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074510150745101CT16:g.50745101C>TClinGen:CA8051503C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1199C>T (p.Pro400Leu)64127NOD2Likely benignrs766651775RCV000638078; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074510250745102CT16:g.50745102C>TClinGen:CA8051504
NM_001370466.1(NOD2):c.1200G>A (p.Pro400=)64127NOD2Conflicting interpretations of pathogenicityrs104895430RCV000265284|RCV000376282|RCV000584869; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MedGen:CN517202165074510350745103GA16:g.50745103G>AClinGen:CA150187C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1203C>T (p.Ala401=)64127NOD2Likely benignrs547826765RCV000912630; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074510650745106CT16:g.50745106C>T-
NM_001370466.1(NOD2):c.1211C>T (p.Ser404Leu)64127NOD2Conflicting interpretations of pathogenicityrs104895431RCV000084081|RCV000322747|RCV000954297|RCV001084194; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MedGen:CN517202|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074511450745114CT16:g.50745114C>TClinGen:CA150190,UniProtKB:Q9HC29#VAR_012682CN043071 Crohn disease;
NM_001370466.1(NOD2):c.1212G>T (p.Ser404=)64127NOD2Likely benignrs145834617RCV000939058; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074511550745115GT16:g.50745115G>T-
NM_001370466.1(NOD2):c.1214C>T (p.Ala405Val)64127NOD2Uncertain significancers2076754RCV000807050|RCV001119853; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074511750745117CT16:g.50745117C>T-
NM_001370466.1(NOD2):c.1230C>T (p.Tyr410=)64127NOD2Likely benignrs771979324RCV000944427; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074513350745133CT16:g.50745133C>T-
NM_001370466.1(NOD2):c.1235G>A (p.Arg412His)64127NOD2Conflicting interpretations of pathogenicityrs143110172RCV000287441|RCV000379610|RCV000700656|RCV001087419; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MedGen:CN517202|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074513850745138GA16:g.50745138G>AClinGen:CA8051519C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1240G>A (p.Glu414Lys)64127NOD2Conflicting interpretations of pathogenicityrs104895432RCV000084082|RCV000638048|RCV000658746|RCV001119854; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MedGen:CN517202|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074514350745143GA16:g.50745143G>AClinGen:CA150193,UniProtKB:Q9HC29#VAR_012684C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1285C>T (p.Leu429=)64127NOD2not providedrs104895433RCV000084083; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074518850745188CT16:g.50745188C>TClinGen:CA150196C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.1296C>T (p.Arg432=)64127NOD2Benignrs2066843RCV000344864|RCV000383063|RCV000454945; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MedGen:CN169374165074519950745199CT16:g.50745199C>TClinGen:CA8051531C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1306C>G (p.Pro436Ala)64127NOD2not providedrs104895482RCV000084084; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074520950745209CG16:g.50745209C>GClinGen:CA150199,UniProtKB:Q9HC29#VAR_073233C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.1308C>T (p.Pro436=)64127NOD2Likely benignrs200656015RCV000936191; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074521150745211CT16:g.50745211C>T-
NM_001370466.1(NOD2):c.1309G>T (p.Gly437Trp)64127NOD2Uncertain significancers104895492RCV000084085|RCV000806195; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074521250745212GT16:g.50745212G>TClinGen:CA150202,UniProtKB:Q9HC29#VAR_073234
NM_001370466.1(NOD2):c.1321C>A (p.Arg441Ser)64127NOD2Uncertain significancers769988393RCV000699576; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074522450745224CA16:g.50745224C>A-
NM_001370466.1(NOD2):c.1322G>A (p.Arg441His)64127NOD2Uncertain significance-1RCV001234670; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074522550745225GA16:g.50745225G>A-
NM_001370466.1(NOD2):c.1324C>T (p.Leu442Phe)64127NOD2Pathogenicrs104895460RCV000004959; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074522750745227CT16:g.50745227C>TClinGen:CA117020,UniProtKB:Q9HC29#VAR_012685,OMIM:605956.0005C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1330C>T (p.Arg444Cys)64127NOD2Benign/Likely benignrs1078327RCV000291414|RCV000348743|RCV000960514; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074523350745233CT16:g.50745233C>TClinGen:CA8051541,UniProtKB:Q9HC29#VAR_036872C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1340A>G (p.Gln447Arg)64127NOD2Uncertain significance-1RCV001235630; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074524350745243AG16:g.50745243A>G-
NM_001370466.1(NOD2):c.1346C>A (p.Thr449Asn)64127NOD2Uncertain significancers1567392113RCV000696354; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074524950745249CA16:g.50745249C>A-C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1361G>A (p.Gly454Asp)64127NOD2not providedrs104895494RCV000084087; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074526450745264GA16:g.50745264G>AClinGen:CA150205,UniProtKB:Q9HC29#VAR_073235C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.1372C>T (p.Leu458=)64127NOD2Benign/Likely benignrs5743274RCV000558767|RCV001000734; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MedGen:CN169374165074527550745275CT16:g.50745275C>TClinGen:CA8051551C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1379T>A (p.Val460Asp)64127NOD2Uncertain significance-1RCV001218005; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074528250745282TA16:g.50745282T>A-
NM_001370466.1(NOD2):c.1388G>T (p.Trp463Leu)64127NOD2not providedrs104895480RCV000084088; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074529150745291GT16:g.50745291G>TClinGen:CA150208,UniProtKB:Q9HC29#VAR_073236C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.1403G>A (p.Cys468Tyr)64127NOD2Pathogenicrs104895478RCV000084089; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074530650745306GA16:g.50745306G>AClinGen:CA150211,UniProtKB:Q9HC29#VAR_073237C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.1406A>T (p.His469Leu)64127NOD2Pathogenicrs104895472RCV000416481; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074530950745309AT16:g.50745309A>TOMIM:605956.0008,ClinGen:CA117025,UniProtKB:Q9HC29#VAR_023824C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1413A>C (p.Glu471Asp)64127NOD2Uncertain significancers1361409611RCV000685064; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074531650745316AC16:g.50745316A>C-C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1418T>A (p.Leu473Ter)64127NOD2Uncertain significance-1RCV001035655; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074532150745321TA16:g.50745321T>A-
NM_001370466.1(NOD2):c.1434dup (p.Ser479fs)64127NOD2Uncertain significancers754761524RCV000638050; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074533050745331AAG16:g.50745330_50745331insGClinGen:CA8051555C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1428G>A (p.Glu476=)64127NOD2Conflicting interpretations of pathogenicityrs104895434RCV000313522|RCV000405930|RCV000915197; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074533150745331GA16:g.50745331G>AClinGen:CA150214C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1434del (p.Ser479fs)64127NOD2Uncertain significancers754761524RCV000691147; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074533150745331AGA16:g.50745331_50745331del-C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1450A>G (p.Thr484Ala)64127NOD2Uncertain significancers759153904RCV000801082|RCV000996264; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MedGen:CN517202165074535350745353AG16:g.50745353A>G-
NM_001370466.1(NOD2):c.1457T>C (p.Met486Thr)64127NOD2Pathogenicrs104895473RCV000084091|RCV000794085; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074536050745360TC16:g.50745360T>CClinGen:CA150217,UniProtKB:Q9HC29#VAR_073238
NM_001370466.1(NOD2):c.1459T>C (p.Tyr487His)64127NOD2Uncertain significancers540122692RCV000520892|RCV000804627; NMedGen:CN517202|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074536250745362TC16:g.50745362T>CClinGen:CA8051566
NM_001370466.1(NOD2):c.1492G>A (p.Ala498Thr)64127NOD2Uncertain significancers1283801598RCV000702551; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074539550745395GA16:g.50745395G>A-
NM_001370466.1(NOD2):c.1502dup (p.Asp502fs)64127NOD2Uncertain significancers754073471RCV000778465; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074539850745399AAC16:g.50745398_50745399insC-
NM_001370466.1(NOD2):c.1500C>G (p.Pro500=)64127NOD2not providedrs104895435RCV000084092; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074540350745403CG16:g.50745403C>GClinGen:CA150219C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.1510G>T (p.Ala504Ser)64127NOD2Uncertain significance-1RCV001121835|RCV001121836; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074541350745413GT16:g.50745413G>T-
NM_001370466.1(NOD2):c.1522C>T (p.Leu508=)64127NOD2Conflicting interpretations of pathogenicityrs145190613RCV000352265|RCV000405440|RCV000886261; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074542550745425CT16:g.50745425C>TClinGen:CA8051589C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1529C>A (p.Pro510His)64127NOD2Uncertain significancers1567392735RCV000768027; NMONDO:MONDO:0015019,MedGen:C4310620,OMIM:617321; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074543250745432CA16:g.50745432C>A-
NM_001370466.1(NOD2):c.1529C>T (p.Pro510Leu)64127NOD2Uncertain significance-1RCV001219692; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074543250745432CT16:g.50745432C>T-
NM_001370466.1(NOD2):c.1540C>T (p.Arg514Trp)64127NOD2Uncertain significancers576658764RCV001001861|RCV001064750; NMedGen:CN169374|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074544350745443CT16:g.50745443C>T-
NM_001370466.1(NOD2):c.1546C>T (p.Arg516Cys)64127NOD2Uncertain significance-1RCV001070060; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074544950745449CT16:g.50745449C>T-
NM_001370466.1(NOD2):c.1547G>A (p.Arg516His)64127NOD2Uncertain significancers772534917RCV000705559; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074545050745450GA16:g.50745450G>A-C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1553C>T (p.Pro518Leu)64127NOD2Conflicting interpretations of pathogenicityrs777949388RCV000298472|RCV000355684; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074545650745456CT16:g.50745456C>TClinGen:CA8051599C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1567C>G (p.Leu523Val)64127NOD2Uncertain significancers104895471RCV000084093|RCV000817814; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074547050745470CG16:g.50745470C>GClinGen:CA150222,UniProtKB:Q9HC29#VAR_073239
NM_001370466.1(NOD2):c.1591_1596del (p.Leu531_Gly532del)64127NOD2not providedrs104895436RCV000084094; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074549050745495GGGGCCTG16:g.50745490_50745495delClinGen:CA150225
NM_001370466.1(NOD2):c.1608C>T (p.Tyr536=)64127NOD2Likely benignrs111608429RCV000264573|RCV000303331|RCV000919121|RCV001002465; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0005011,MedGen:CN043071|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MedGen:CN169374165074551150745511CT16:g.50745511C>TClinGen:CA8051608C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1609G>A (p.Val537Met)64127NOD2Uncertain significance-1RCV001040517; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074551250745512GA16:g.50745512G>A-
NM_001370466.1(NOD2):c.1616C>T (p.Ser539Leu)64127NOD2Uncertain significance-1RCV001217278; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074551950745519CT16:g.50745519C>T-
NM_001370466.1(NOD2):c.1639C>G (p.Gln547Glu)64127NOD2Uncertain significance-1RCV001045704; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074554250745542CG16:g.50745542C>G-
NM_001370466.1(NOD2):c.1678C>T (p.Arg560Cys)64127NOD2Likely pathogenicrs104895479RCV000084095|RCV001092928; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MedGen:CN517202165074558150745581CT16:g.50745581C>TClinGen:CA150228,UniProtKB:Q9HC29#VAR_073240C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.1679G>A (p.Arg560His)64127NOD2Uncertain significancers373185098RCV000690943; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074558250745582GA16:g.50745582G>A-C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1680T>G (p.Arg560=)64127NOD2Benignrs1861759RCV000268176|RCV000360519|RCV000455330; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MedGen:CN169374165074558350745583TG16:g.50745583T>GClinGen:CA8051620C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1693G>A (p.Val565Met)64127NOD2Likely benignrs148683734RCV000974786; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074559650745596GA16:g.50745596G>A-
NM_001370466.1(NOD2):c.1706C>T (p.Thr569Met)64127NOD2Uncertain significancers142077546RCV001027796|RCV001035749; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074560950745609CT16:g.50745609C>T-
NM_001370466.1(NOD2):c.1707G>A (p.Thr569=)64127NOD2Benignrs104895437RCV000084096|RCV000638065; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074561050745610GA16:g.50745610G>AClinGen:CA150231C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1710G>A (p.Ala570=)64127NOD2Likely benignrs140312093RCV000904706; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074561350745613GA16:g.50745613G>A-
NM_001370466.1(NOD2):c.1732A>C (p.Thr578Pro)64127NOD2not providedrs104895474RCV000084097; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074563550745635AC16:g.50745635A>CClinGen:CA150234,UniProtKB:Q9HC29#VAR_073241C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.1745T>G (p.Phe582Cys)64127NOD2Conflicting interpretations of pathogenicityrs777798807RCV000804640|RCV001115266|RCV001115267; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074564850745648TG16:g.50745648T>G-
NM_001370466.1(NOD2):c.1752C>T (p.Ala584=)64127NOD2Benign/Likely benignrs61736932RCV000325625|RCV000382617|RCV000547854|RCV001001699; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MedGen:CN169374165074565550745655CT16:g.50745655C>TClinGen:CA8051633C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1753G>A (p.Ala585Thr)64127NOD2Conflicting interpretations of pathogenicityrs104895438RCV000271343|RCV000328692|RCV000883284|RCV001280996; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MedGen:C1835223,OMIM:607507; MON165074565650745656GA16:g.50745656G>AClinGen:CA117029,UniProtKB:Q9HC29#VAR_012686,OMIM:605956.0010C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1753G>T (p.Ala585Ser)64127NOD2Conflicting interpretations of pathogenicityrs104895438RCV000293577|RCV000385541|RCV000822406; NMONDO:MONDO:0005011,MedGen:CN043071|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074565650745656GT16:g.50745656G>TClinGen:CA8051634
NM_001370466.1(NOD2):c.1754C>T (p.Ala585Val)64127NOD2not providedrs104895439RCV000084098; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074565750745657CT16:g.50745657C>TClinGen:CA150236,UniProtKB:Q9HC29#VAR_012687C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.1758C>T (p.Phe586=)64127NOD2Conflicting interpretations of pathogenicityrs149870902RCV000332078|RCV000388992|RCV000885291; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074566150745661CT16:g.50745661C>TClinGen:CA8051636C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1775C>T (p.Ala592Val)64127NOD2Uncertain significancers867131858RCV000278069|RCV000335452; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074567850745678CT16:g.50745678C>TClinGen:CA10647601
NM_001370466.1(NOD2):c.1828_1846del (p.Asn610fs)64127NOD2Uncertain significance-1RCV001065078; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074572350745741AGGCCAGGCAACTCACCAATA16:g.50745723_50745741del-
NM_001370466.1(NOD2):c.1852C>A (p.Pro618Thr)64127NOD2Uncertain significance-1RCV001037026; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074575550745755CA16:g.50745755C>A-
NM_001370466.1(NOD2):c.1857G>A (p.Thr619=)64127NOD2Likely benignrs762058298RCV000963490; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074576050745760GA16:g.50745760G>A-
NM_001370466.1(NOD2):c.1875G>A (p.Ser625=)64127NOD2Likely benignrs141355588RCV000977031; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074577850745778GA16:g.50745778G>A-
NM_001370466.1(NOD2):c.1888A>G (p.Ser630Gly)64127NOD2Uncertain significancers150236752RCV000698270; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074579150745791AG16:g.50745791A>G-C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1894G>A (p.Val632Met)64127NOD2Uncertain significance-1RCV001068497; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074579750745797GA16:g.50745797G>A-
NM_001370466.1(NOD2):c.1900G>C (p.Ala634Pro)64127NOD2Conflicting interpretations of pathogenicityrs369957746RCV000281696|RCV000403955; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074580350745803GC16:g.50745803G>CClinGen:CA8051663
NM_001370466.1(NOD2):c.1922C>T (p.Pro641Leu)64127NOD2Conflicting interpretations of pathogenicityrs5743275RCV000339948|RCV000403078|RCV000894655; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074582550745825CT16:g.50745825C>TClinGen:CA8051668
NM_001370466.1(NOD2):c.1923del (p.His642fs)64127NOD2Uncertain significance-1RCV001070773; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074582650745826CGC16:g.50745826_50745826del-
NM_001370466.1(NOD2):c.1929C>A (p.Asn643Lys)64127NOD2not providedrs104895475RCV000084099; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074583250745832CA16:g.50745832C>AUniProtKB:Q9HC29#VAR_073242,ClinGen:CA150239C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.1929C>G (p.Asn643Lys)64127NOD2Uncertain significancers104895475RCV000761493; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074583250745832CG16:g.50745832C>G-
NM_001370466.1(NOD2):c.1951del (p.Leu651fs)64127NOD2Pathogenicrs1201050964RCV000791082; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074585350745853TCT16:g.50745853_50745853del-
NM_001370466.1(NOD2):c.1957G>A (p.Gly653Arg)64127NOD2Uncertain significancers371339573RCV000560264; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074586050745860GA16:g.50745860G>AClinGen:CA8051678C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.1965G>T (p.Leu655Phe)64127NOD2Benign/Likely benignrs149002807RCV000304824|RCV000361829|RCV000907060; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074586850745868GT16:g.50745868G>TClinGen:CA8051681
NM_001370466.1(NOD2):c.1969C>T (p.Arg657Trp)64127NOD2Benign/Likely benignrs5743276RCV000308558|RCV000397913|RCV000638060; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074587250745872CT16:g.50745872C>TClinGen:CA8051682,UniProtKB:Q9HC29#VAR_012688
NM_001370466.1(NOD2):c.1970G>A (p.Arg657Gln)64127NOD2Conflicting interpretations of pathogenicityrs114664276RCV000959762|RCV001280997; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MedGen:C1835223,OMIM:607507; MONDO:MONDO:0015019,MedGen:C4310620,OMIM:617321; MONDO:MONDO:000852165074587350745873GA16:g.50745873G>A-
NM_001370466.1(NOD2):c.1994A>G (p.Glu665Gly)64127NOD2Uncertain significance-1RCV001211604; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074589750745897AG16:g.50745897A>G-
NM_001370466.1(NOD2):c.2023C>T (p.Arg675Trp)64127NOD2Conflicting interpretations of pathogenicity, risk factorrs2066844RCV000004957|RCV000203217|RCV000365422|RCV000416493|RCV000536287; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MedGen:CN169374|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0015019,MedGen:C4310620,OMIM:617321|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C52165074592650745926CT16:g.50745926C>TClinGen:CA213414,UniProtKB:Q9HC29#VAR_012689,OMIM:605956.0003C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys)64127NOD2Conflicting interpretations of pathogenicityrs5743277RCV000178334|RCV000330236|RCV000368536|RCV000488013|RCV001086759; NMedGen:CN169374|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MedGen:CN517202|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074592950745929CT16:g.50745929C>TUniProtKB:Q9HC29#VAR_012690,ClinGen:CA202825C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.2026C>G (p.Arg676Gly)64127NOD2Uncertain significance-1RCV001222153; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074592950745929CG16:g.50745929C>G-
NM_001370466.1(NOD2):c.2029C>T (p.Gln677Ter)64127NOD2Uncertain significance-1RCV001245267; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074593250745932CT16:g.50745932C>T-
NM_001370466.1(NOD2):c.2042G>A (p.Arg681His)64127NOD2Benign/Likely benignrs35285618RCV000276374|RCV000333817|RCV000638062; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074594550745945GA16:g.50745945G>AClinGen:CA8051704
NM_001370466.1(NOD2):c.2046G>A (p.Trp682Ter)64127NOD2Pathogenic-1RCV001267780; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074594950745949GA16:g.50745949G>A-
NM_001370466.1(NOD2):c.2056C>T (p.Arg686Cys)64127NOD2Uncertain significancers104895440RCV000084100|RCV000658747; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MedGen:CN517202165074595950745959CT16:g.50745959C>TUniProtKB:Q9HC29#VAR_012691,ClinGen:CA150241CN517202 not provided;
NM_001370466.1(NOD2):c.2057G>A (p.Arg686His)64127NOD2Conflicting interpretations of pathogenicityrs104895483RCV000084101|RCV000658748|RCV001085908|RCV001121938; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MedGen:CN517202|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074596050745960GA16:g.50745960G>AClinGen:CA150244,UniProtKB:Q9HC29#VAR_073243CN517202 not provided;
NM_001370466.1(NOD2):c.2066G>A (p.Arg689His)64127NOD2Conflicting interpretations of pathogenicityrs200035357RCV000280184|RCV000372158|RCV001060364; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074596950745969GA16:g.50745969G>AClinGen:CA8051707
NM_001370466.1(NOD2):c.2087C>T (p.Pro696Leu)64127NOD2Conflicting interpretations of pathogenicityrs201076024RCV000805551|RCV001115355|RCV001115356; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074599050745990CT16:g.50745990C>T-
NM_001370466.1(NOD2):c.2093C>G (p.Ala698Gly)64127NOD2Benignrs5743278RCV000318840|RCV000375743|RCV000548787; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074599650745996CG16:g.50745996C>GClinGen:CA8051714,UniProtKB:Q9HC29#VAR_012692
NM_001370466.1(NOD2):c.2099C>T (p.Pro700Leu)64127NOD2Uncertain significancers104895489RCV000084102|RCV000811240; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074600250746002CT16:g.50746002C>TClinGen:CA150247
NM_001370466.1(NOD2):c.2116G>A (p.Val706Met)64127NOD2Uncertain significance-1RCV001281018; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MedGen:C1835223,OMIM:607507; MONDO:MONDO:0015019,MedGen:C4310620,OMIM:617321165074601950746019GA16:g.50746019G>A-
NM_001370466.1(NOD2):c.2139C>T (p.Ile713=)64127NOD2not providedrs104895441RCV000084103; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074604250746042CT16:g.50746042C>TClinGen:CA150250C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.2139C>A (p.Ile713=)64127NOD2Likely benignrs104895441RCV000936320; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074604250746042CA16:g.50746042C>A-
NM_001370466.1(NOD2):c.2149C>T (p.Arg717Trp)64127NOD2Conflicting interpretations of pathogenicityrs140876663RCV000809039|RCV001115357|RCV001115358; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074605250746052CT16:g.50746052C>T-
NM_001370466.1(NOD2):c.2161G>A (p.Glu721Lys)64127NOD2Uncertain significancers757403209RCV000798443; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074606450746064GA16:g.50746064G>A-
NM_001370466.1(NOD2):c.2171A>G (p.Glu724Gly)64127NOD2Uncertain significance-1RCV001216507; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074607450746074AG16:g.50746074A>G-
NM_001370466.1(NOD2):c.2176C>T (p.Arg726Trp)64127NOD2Uncertain significancers749720540RCV000996265|RCV001244704; NMedGen:CN517202|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074607950746079CT16:g.50746079C>T-
NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val)64127NOD2Likely benignrs61747625RCV000284123|RCV000341511|RCV000513725|RCV001086368; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MedGen:CN517202|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074608650746086CT16:g.50746086C>TClinGen:CA8051743,UniProtKB:Q9HC29#VAR_012693
NM_001370466.1(NOD2):c.2185C>T (p.Arg729Trp)64127NOD2Uncertain significancers376201089RCV000685885; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074608850746088CT16:g.50746088C>T-
NM_001370466.1(NOD2):c.2186G>A (p.Arg729Gln)64127NOD2Uncertain significancers375713299RCV000697116; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074608950746089GA16:g.50746089G>A-C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.2192C>T (p.Ala731Val)64127NOD2not providedrs104895442RCV000084104; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074609550746095CT16:g.50746095C>TClinGen:CA150253,UniProtKB:Q9HC29#VAR_012694C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.2197C>T (p.Arg733Cys)64127NOD2Uncertain significancers3813758RCV000819688; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074610050746100CT16:g.50746100C>T-
NM_001370466.1(NOD2):c.2198G>A (p.Arg733His)64127NOD2Uncertain significancers763955590RCV000698432; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074610150746101GA16:g.50746101G>A-
NM_001370466.1(NOD2):c.2226G>C (p.Leu742Phe)64127NOD2Uncertain significance-1RCV001230837; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074612950746129GC16:g.50746129G>C-
NM_001370466.1(NOD2):c.2249C>A (p.Thr750Asn)64127NOD2Uncertain significancers756184386RCV000287661|RCV000406840; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074615250746152CA16:g.50746152C>AClinGen:CA8051753
NM_001370466.1(NOD2):c.2251G>A (p.Glu751Lys)64127NOD2Conflicting interpretations of pathogenicityrs104895443RCV000084105|RCV000638058|RCV000778466|RCV000785151; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MedGen:CN169374165074615450746154GA16:g.50746154G>AClinGen:CA150256,UniProtKB:Q9HC29#VAR_012695
NM_001370466.1(NOD2):c.2284C>T (p.Leu762Phe)64127NOD2Conflicting interpretations of pathogenicityrs773758818RCV000344785|RCV000404638; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074618750746187CT16:g.50746187C>TClinGen:CA8051759
NM_001370466.1(NOD2):c.2288G>A (p.Arg763Gln)64127NOD2Benign/Likely benignrs5743279RCV000541209|RCV001002621; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MedGen:CN169374165074619150746191GA16:g.50746191G>AClinGen:CA8051762C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.2290C>T (p.Arg764Trp)64127NOD2Conflicting interpretations of pathogenicityrs104895484RCV000084106|RCV001118507; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074619350746193CT16:g.50746193C>TClinGen:CA150259,UniProtKB:Q9HC29#VAR_073246C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln)64127NOD2Benign/Likely benignrs104895464RCV000309825|RCV000366861|RCV000638063; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074619450746194GA16:g.50746194G>AClinGen:CA150262C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.2294C>G (p.Pro765Arg)64127NOD2Uncertain significance-1RCV001039107; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074619750746197CG16:g.50746197C>G-
NM_001370466.1(NOD2):c.2295C>T (p.Pro765=)64127NOD2Likely benignrs5743280RCV000917186; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074619850746198CT16:g.50746198C>T-
NM_001370466.1(NOD2):c.2296G>A (p.Val766Met)64127NOD2Conflicting interpretations of pathogenicityrs104895444RCV000084108|RCV000405468|RCV000954298|RCV001001762|RCV001080854; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074619950746199GA16:g.50746199G>AClinGen:CA150265,UniProtKB:Q9HC29#VAR_012696CN043071 Crohn disease;
NM_001370466.1(NOD2):c.2323G>A (p.Val775Met)64127NOD2Uncertain significance-1RCV001046683; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074622650746226GA16:g.50746226G>A-
NM_001370466.1(NOD2):c.2325G>T (p.Val775=)64127NOD2Benign/Likely benignrs104895495RCV000313611|RCV000370593|RCV000970741; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074622850746228GT16:g.50746228G>TClinGen:CA150268C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.2338G>A (p.Val780Met)64127NOD2Uncertain significancers748522514RCV000701539; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074624150746241GA16:g.50746241G>A-C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.2353C>T (p.Pro785Ser)64127NOD2Uncertain significancers746692864RCV000810135; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165074625650746256CT16:g.50746256C>T-
NM_001370466.1(NOD2):c.2363G>T (p.Gly788Val)64127NOD2Uncertain significance-1RCV001245842; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165074626650746266GT16:g.50746266G>T-
NM_001370466.1(NOD2):c.2381+10A>C64127NOD2Benign/Likely benignrs72796353RCV000259541|RCV000317301|RCV001000505; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MedGen:CN169374165074629450746294AC16:g.50746294A>CClinGen:CA8051775C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.2382-9T>A64127NOD2Conflicting interpretations of pathogenicityrs201759367RCV000263309|RCV000355770|RCV000910428|RCV001000740; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MedGen:CN169374165075048950750489TA16:g.50750489T>AClinGen:CA8051787C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.2389G>A (p.Asp797Asn)64127NOD2Likely benignrs61755272RCV000909971; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165075050550750505GA16:g.50750505G>A-
NM_001370466.1(NOD2):c.2390A>G (p.Asp797Gly)64127NOD2Uncertain significancers778481419RCV000811930; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165075050650750506AG16:g.50750506A>G-
NM_001370466.1(NOD2):c.2393A>G (p.Asn798Ser)64127NOD2Uncertain significance-1RCV001202136; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165075050950750509AG16:g.50750509A>G-
NM_001370466.1(NOD2):c.2394C>G (p.Asn798Lys)64127NOD2not providedrs104895485RCV000084110; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165075051050750510CG16:g.50750510C>GClinGen:CA150271,UniProtKB:Q9HC29#VAR_073247C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.2407C>T (p.Arg803Ter)64127NOD2Uncertain significance-1RCV001208985; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165075052350750523CT16:g.50750523C>T-
NM_001370466.1(NOD2):c.2408G>A (p.Arg803Gln)64127NOD2Conflicting interpretations of pathogenicityrs770915641RCV000320763|RCV000377831; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165075052450750524GA16:g.50750524G>AClinGen:CA8051803
NM_001370466.1(NOD2):c.2413A>G (p.Ile805Val)64127NOD2Uncertain significancers765335094RCV000266942|RCV000324406|RCV000549179; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165075052950750529AG16:g.50750529A>GClinGen:CA10648458
NM_001370466.1(NOD2):c.2419A>C (p.Lys807Gln)64127NOD2Uncertain significance-1RCV001048362; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165075053550750535AC16:g.50750535A>C-
NM_001370466.1(NOD2):c.2434G>T (p.Ala812Ser)64127NOD2Uncertain significance-1RCV001038814; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165075055050750550GT16:g.50750550G>T-
NM_001370466.1(NOD2):c.2443T>C (p.Cys815Arg)64127NOD2Uncertain significance-1RCV001218557; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165075055950750559TC16:g.50750559T>C-
NM_001370466.1(NOD2):c.2446G>A (p.Glu816Lys)64127NOD2not providedrs104895445RCV000084111; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165075056250750562GA16:g.50750562G>AUniProtKB:Q9HC29#VAR_012697,ClinGen:CA150274C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.2465C>T (p.Ala822Val)64127NOD2Conflicting interpretations of pathogenicityrs104895486RCV000285499|RCV000381377|RCV000808553; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165075058150750581CT16:g.50750581C>TUniProtKB:Q9HC29#VAR_073248,ClinGen:CA150277
NM_001370466.1(NOD2):c.2465+2dup64127NOD2Uncertain significancers748508924RCV000482584|RCV001049737; NMedGen:CN169374|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165075058250750583GGT16:g.50750582_50750583insTClinGen:CA8051818
NM_001370466.1(NOD2):c.2465+1G>A64127NOD2Conflicting interpretations of pathogenicityrs373550987RCV000778467|RCV001063456|RCV001115441; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165075058250750582GA16:g.50750582G>A-
NM_001370466.1(NOD2):c.2466-11G>T64127NOD2Benign/Likely benignrs5743285RCV000340427|RCV000376383; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165075079150750791GT16:g.50750791G>TClinGen:CA8051839
NM_001370466.1(NOD2):c.2466-8C>G64127NOD2Uncertain significance-1RCV001239269; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165075079450750794CG16:g.50750794C>G-
NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser)64127NOD2Conflicting interpretations of pathogenicity, risk factorrs104895467RCV000280478|RCV000281894|RCV000336827|RCV000638061; NMedGen:CN517202|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165075081050750810AG16:g.50750810A>GClinGen:CA150280,UniProtKB:Q9HC29#VAR_073249C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.2477A>G (p.Asn826Ser)64127NOD2not providedrs104895446RCV000084114; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165075081350750813AG16:g.50750813A>GClinGen:CA150283,UniProtKB:Q9HC29#VAR_012698C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.2490C>T (p.Asp830=)64127NOD2Benign/Likely benignrs144083291RCV000902713|RCV001200408; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MedGen:CN517202165075082650750826CT16:g.50750826C>T-
NM_001370466.1(NOD2):c.2497G>A (p.Ala833Thr)64127NOD2Uncertain significancers754270929RCV000819356; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165075083350750833GA16:g.50750833G>A-
NM_001370466.1(NOD2):c.2506A>G (p.Met836Val)64127NOD2Benign/Likely benignrs104895447RCV000297099|RCV000403018|RCV000638068; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165075084250750842AG16:g.50750842A>GClinGen:CA150286,UniProtKB:Q9HC29#VAR_012699C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.2528G>A (p.Arg843Lys)64127NOD2Uncertain significance-1RCV001062118; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165075086450750864GA16:g.50750864G>A-
NM_001370466.1(NOD2):c.2538C>T (p.Phe846=)64127NOD2not providedrs104895448RCV000084116; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165075087450750874CT16:g.50750874C>TClinGen:CA150289C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.2549+35T>A64127NOD2not providedrs104895449RCV000084117; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165075092050750920TA16:g.50750920T>AClinGen:CA150292C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.2550-5T>C64127NOD2not providedrs104895450RCV000084118; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165075383150753831TC16:g.50753831T>CClinGen:CA150293C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.2551C>T (p.Leu851=)64127NOD2Uncertain significancers886052044RCV000351934|RCV000403872; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165075383750753837CT16:g.50753837C>TClinGen:CA10648460
NM_001370466.1(NOD2):c.2558A>G (p.Asn853Ser)64127NOD2Uncertain significance-1RCV001221463; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165075384450753844AG16:g.50753844A>G-
NM_001370466.1(NOD2):c.2577G>A (p.Ala859=)64127NOD2Uncertain significancers1417676866RCV000638043; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165075386350753863GA16:g.50753863G>AClinGen:CA495470592
NM_001370466.1(NOD2):c.2596G>A (p.Glu866Lys)64127NOD2Uncertain significance-1RCV001050769; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165075388250753882GA16:g.50753882G>A-
NM_001370466.1(NOD2):c.2605C>T (p.Arg869Ter)64127NOD2Uncertain significance-1RCV001207626; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165075389150753891CT16:g.50753891C>T-
NM_001370466.1(NOD2):c.2618C>T (p.Ser873Phe)64127NOD2Uncertain significancers199552944RCV000638047; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165075390450753904CT16:g.50753904C>TClinGen:CA8051927
NM_001370466.1(NOD2):c.2623C>A (p.Gln875Lys)64127NOD2Benign/Likely benignrs201035873RCV000312114|RCV000366842; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165075390950753909CA16:g.50753909C>AClinGen:CA8051929
NM_001370466.1(NOD2):c.2631G>A (p.Leu877=)64127NOD2Conflicting interpretations of pathogenicityrs142559533RCV000272343|RCV000308418; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165075391750753917GA16:g.50753917G>AClinGen:CA8051932
NM_001370466.1(NOD2):c.2634-81G>A64127NOD2not providedrs104895465RCV000084120; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165075645250756452GA16:g.50756452G>AClinGen:CA150295C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.2634-75G>A64127NOD2not providedrs104895466RCV000084119; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165075645850756458GA16:g.50756458G>AClinGen:CA150294C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.2638T>C (p.Trp880Arg)64127NOD2not providedrs104895490RCV000084121; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165075653750756537TC16:g.50756537T>CClinGen:CA150296C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg)64127NOD2Conflicting interpretations of pathogenicity, risk factorrs2066845RCV000004956|RCV000238745|RCV000268347|RCV000416490|RCV000638041|RCV000996266; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MedGen:CN169374|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0015019,MedGen:C4310620,OMIM:617321|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C52165075654050756540GC16:g.50756540G>CClinGen:CA117015,UniProtKB:Q9HC29#VAR_012701,OMIM:605956.0002C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.2641G>T (p.Gly881Cys)64127NOD2Conflicting interpretations of pathogenicityrs2066845RCV000996267|RCV001118603|RCV001120148; NMedGen:CN517202|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165075654050756540GT16:g.50756540G>T-
NM_001370466.1(NOD2):c.2652G>A (p.Val884=)64127NOD2Likely benignrs1359941511RCV000638075; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165075655150756551GA16:g.50756551G>AClinGen:CA495472844C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.2654G>C (p.Gly885Ala)64127NOD2Uncertain significance-1RCV001240267; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165075655350756553GC16:g.50756553G>C-
NM_001370466.1(NOD2):c.2658C>T (p.Asp886=)64127NOD2Likely benignrs104895451RCV000084122|RCV000901041|RCV001000741; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MedGen:CN169374165075655750756557CT16:g.50756557C>TClinGen:CA150299C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.2659G>A (p.Glu887Lys)64127NOD2Uncertain significancers758913334RCV000323493|RCV000378322; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165075655850756558GA16:g.50756558G>AClinGen:CA8051959
NM_001370466.1(NOD2):c.2672C>A (p.Ala891Asp)64127NOD2Likely benignrs104895452RCV000264984|RCV000320195|RCV000638077; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165075657150756571CA16:g.50756571C>AClinGen:CA150302,UniProtKB:Q9HC29#VAR_012702C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.2690G>A (p.Gly897Asp)64127NOD2Uncertain significancers104895453RCV000084124|RCV001207345; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165075658950756589GA16:g.50756589G>AClinGen:CA150305,UniProtKB:Q9HC29#VAR_012703C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.2693A>G (p.Asp898Gly)64127NOD2Uncertain significancers545734771RCV000705082; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165075659250756592AG16:g.50756592A>G-C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.2717+158C>T64127NOD2Likely benignrs5743289RCV000004962|RCV000416486|RCV000416489|RCV000960463|RCV001029749; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0015019,MedGen:C4310620,OMIM:617321|MedGen:CN517202|MONDO:MONDO:0019751,MedGen:C3890737, Orphanet:93665165075677450756774CT16:g.50756774C>TClinGen:CA117024,OMIM:605956.0007C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.2718-1G>T64127NOD2Uncertain significance-1RCV001253742; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165075721150757211GT16:g.50757211G>T-
NM_001370466.1(NOD2):c.2734A>G (p.Ile912Val)64127NOD2Uncertain significancers201781416RCV000819907; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165075722850757228AG16:g.50757228A>G-
NM_001370466.1(NOD2):c.2736T>C (p.Ile912=)64127NOD2Conflicting interpretations of pathogenicityrs104895454RCV000084125|RCV001120149; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165075723050757230TC16:g.50757230T>CClinGen:CA150308C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.2752C>T (p.Gln918Ter)64127NOD2Uncertain significance-1RCV001065321; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165075724650757246CT16:g.50757246C>T-
NM_001370466.1(NOD2):c.2776A>G (p.Lys926Glu)64127NOD2Uncertain significance-1RCV001056712; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165075727050757270AG16:g.50757270A>G-
NM_001370466.1(NOD2):c.2781C>T (p.Asn927=)64127NOD2Conflicting interpretations of pathogenicity-1RCV001120150|RCV001120437; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165075727550757275CT16:g.50757275C>T-
NM_001370466.1(NOD2):c.2782G>A (p.Val928Ile)64127NOD2Benign/Likely benignrs5743291RCV000279812|RCV000374813|RCV000755646|RCV001001676; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0015019,MedGen:C4310620,OMIM:617321; MedGen:C1835223,OMIM:607507; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MON165075727650757276GA16:g.50757276G>AClinGen:CA150311,UniProtKB:Q9HC29#VAR_012704C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.2792A>G (p.Glu931Gly)64127NOD2Uncertain significance-1RCV001070447; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165075728650757286AG16:g.50757286A>G-
NM_001370466.1(NOD2):c.2802-9T>A64127NOD2Uncertain significancers750873269RCV000690395; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165075939150759391TA16:g.50759391T>A-
NM_001370466.1(NOD2):c.2807A>G (p.Glu936Gly)64127NOD2Uncertain significancers1555501675RCV000638052; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165075940550759405AG16:g.50759405A>GClinGen:CA395876314
NM_001370466.1(NOD2):c.2833G>A (p.Val945Ile)64127NOD2not providedrs104895455RCV000084127; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165075943150759431GA16:g.50759431G>AClinGen:CA150314C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.2839T>C (p.Ser947Pro)64127NOD2Uncertain significance-1RCV001120438|RCV001120439; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165075943750759437TC16:g.50759437T>C-
NM_001370466.1(NOD2):c.2840C>T (p.Ser947Phe)64127NOD2Uncertain significancers200463498RCV000638051; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165075943850759438CT16:g.50759438C>TClinGen:CA8052023C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.2842C>G (p.Leu948Val)64127NOD2Uncertain significancers1337759230RCV000799982; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165075944050759440CG16:g.50759440C>G-
NM_001370466.1(NOD2):c.2844C>T (p.Leu948=)64127NOD2not providedrs104895463RCV000084128; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165075944250759442CT16:g.50759442C>TClinGen:CA150317C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.2845G>A (p.Ala949Thr)64127NOD2Conflicting interpretations of pathogenicityrs148561632RCV000638057|RCV001120440|RCV001120441; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165075944350759443GA16:g.50759443G>AClinGen:CA8052024
NM_001370466.1(NOD2):c.2852G>A (p.Gly951Glu)64127NOD2Uncertain significancers104895457RCV000084129|RCV001120442|RCV001247472; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165075945050759450GA16:g.50759450G>AClinGen:CA150320C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.2903T>C (p.Ile968Thr)64127NOD2Uncertain significance-1RCV001066136; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165076374650763746TC16:g.50763746T>C-
NM_001370466.1(NOD2):c.2915G>C (p.Gly972Ala)64127NOD2Uncertain significancers1238071864RCV000794832; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165076375850763758GC16:g.50763758G>C-
NM_001370466.1(NOD2):c.2917G>A (p.Ala973Thr)64127NOD2Uncertain significancers1282634444RCV000802830; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165076376050763760GA16:g.50763760G>A-
NM_001370466.1(NOD2):c.2929C>G (p.Leu977Val)64127NOD2Uncertain significance-1RCV001043230; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165076377250763772CG16:g.50763772C>G-
NM_001370466.1(NOD2):c.2938dup (p.Leu980fs)64127NOD2Conflicting interpretations of pathogenicity, risk factorrs2066847RCV000004955|RCV000334899|RCV000389442|RCV000416485|RCV000525152|RCV001002511; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0005011,MedGen:CN043071|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0015019,MedGen:C4310620,OMIM:617321|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MOND165076377850763779GGC16:g.50763778_50763779insCOMIM:605956.0012,OMIM:605956.0001,ClinGen:CA129325C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.2938C>T (p.Leu980Phe)64127NOD2Uncertain significance-1RCV001043231; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165076378150763781CT16:g.50763781C>T-
NM_001370466.1(NOD2):c.2944A>G (p.Arg982Gly)64127NOD2Uncertain significance-1RCV001235754; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165076378750763787AG16:g.50763787A>G-
NM_001370466.1(NOD2):c.2970-102C>G64127NOD2not providedrs104895458RCV000084130; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165076555650765556CG16:g.50765556C>GClinGen:CA150323C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.2971C>T (p.Leu991Phe)64127NOD2Uncertain significance-1RCV001228497; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165076565950765659CT16:g.50765659C>T-
NM_001370466.1(NOD2):c.2974C>T (p.Arg992Ter)64127NOD2not providedrs104895491RCV000084131; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165076566250765662CT16:g.50765662C>TClinGen:CA150324C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.2974C>G (p.Arg992Gly)64127NOD2Uncertain significance-1RCV001224475; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165076566250765662CG16:g.50765662C>G-
NM_001370466.1(NOD2):c.2975G>A (p.Arg992Gln)64127NOD2Uncertain significance-1RCV001059676; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165076566350765663GA16:g.50765663G>A-
NM_001370466.1(NOD2):c.2975G>T (p.Arg992Leu)64127NOD2Uncertain significance-1RCV001062916; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165076566350765663GT16:g.50765663G>T-
NM_001370466.1(NOD2):c.2979G>A (p.Gly993=)64127NOD2Likely benignrs374689495RCV000935098; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165076566750765667GA16:g.50765667G>A-
NM_001370466.1(NOD2):c.3001G>A (p.Val1001Ile)64127NOD2Uncertain significance-1RCV001242089; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340; MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165076568950765689GA16:g.50765689G>A-
NM_001370466.1(NOD2):c.3013G>A (p.Gly1005Ser)64127NOD2Conflicting interpretations of pathogenicityrs147874812RCV000295535|RCV000350417|RCV000918737; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600; MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165076570150765701GA16:g.50765701G>AClinGen:CA8052076
NM_001370466.1(NOD2):c.*8G>A64127NOD2Conflicting interpretations of pathogenicityrs199475923RCV000089374|RCV001115536|RCV001115537; NMedGen:CN517202|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165076573850765738GA16:g.50765738G>AClinGen:CA230135CN517202 not provided;
NM_001370466.1(NOD2):c.*9G>A64127NOD2not providedrs104895459RCV000084069; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165076573950765739GA16:g.50765739G>AClinGen:CA150162C1836122 609464 Sarcoidosis, early-onset;
NM_001370466.1(NOD2):c.*64G>C64127NOD2Uncertain significance-1RCV001115538|RCV001115539; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165076579450765794GC16:g.50765794G>C-
NM_001370466.1(NOD2):c.*89C>T64127NOD2Conflicting interpretations of pathogenicityrs184545855RCV000310615|RCV000392805; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165076581950765819CT16:g.50765819C>TClinGen:CA10643727
NM_001370466.1(NOD2):c.*183C>T64127NOD2Conflicting interpretations of pathogenicity-1RCV001116962|RCV001116963; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165076591350765913CT16:g.50765913C>T-
NM_001370466.1(NOD2):c.*186C>G64127NOD2Uncertain significancers886052045RCV000346810|RCV000405875; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165076591650765916CG16:g.50765916C>GClinGen:CA10648471
NM_001370466.1(NOD2):c.*325G>A64127NOD2Uncertain significancers886052046RCV000306381|RCV000361202; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165076605550766055GA16:g.50766055G>AClinGen:CA10637856
NM_001370466.1(NOD2):c.*329_*334dup64127NOD2Uncertain significancers886052047RCV000266554|RCV000302740; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0005011,MedGen:CN043071165076605750766058GGGCCCAT16:g.50766057_50766058insGCCCATClinGen:CA10643729
NM_001370466.1(NOD2):c.*382C>T64127NOD2Uncertain significancers535063121RCV000262934|RCV000357572; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165076611250766112CT16:g.50766112C>TClinGen:CA10647616C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.*394C>T64127NOD2Uncertain significancers886052048RCV000318106|RCV000354479; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165076612450766124CT16:g.50766124C>TClinGen:CA10637857C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.*397A>C64127NOD2Benignrs3135499RCV000259622|RCV000333370; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165076612750766127AC16:g.50766127A>CClinGen:CA10637859C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.*422C>G64127NOD2Uncertain significancers886052049RCV000293809|RCV000387968; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165076615250766152CG16:g.50766152C>GClinGen:CA10648475C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.*462C>A64127NOD2Uncertain significancers562972090RCV000330041|RCV000384693; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165076619250766192CA16:g.50766192C>AClinGen:CA10637860C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.*470C>T64127NOD2Uncertain significancers770461687RCV000290338|RCV000344166; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165076620050766200CT16:g.50766200C>TClinGen:CA10643730C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.*521C>T64127NOD2Benignrs5743297RCV000285584|RCV000406828; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165076625150766251CT16:g.50766251C>TClinGen:CA10648477C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.*609C>T64127NOD2Uncertain significance-1RCV001120542|RCV001120543; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165076633950766339CT16:g.50766339C>T-
NM_001370466.1(NOD2):c.*620G>A64127NOD2Benign/Likely benignrs116213743RCV000340500|RCV000404269; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165076635050766350GA16:g.50766350G>AClinGen:CA10637861C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.*873C>T64127NOD2Conflicting interpretations of pathogenicityrs373812846RCV000300779|RCV000355501; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165076660350766603CT16:g.50766603C>TClinGen:CA10648478C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.*877C>A64127NOD2Benign/Likely benignrs140643942RCV000297031|RCV000406512; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165076660750766607CA16:g.50766607C>AClinGen:CA10648479C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.*990T>C64127NOD2Benign/Likely benignrs192842874RCV000275918|RCV000370398; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165076672050766720TC16:g.50766720T>CClinGen:CA10648480C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.*1013A>G64127NOD2Uncertain significance-1RCV001115634|RCV001117059; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165076674350766743AG16:g.50766743A>G-
NM_001370466.1(NOD2):c.*1023C>T64127NOD2Benign/Likely benignrs5743299RCV000331050|RCV000366757; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165076675350766753CT16:g.50766753C>TClinGen:CA10647617C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.*1156G>A64127NOD2Benignrs3135500RCV000272415|RCV000327435; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165076688650766886GA16:g.50766886G>AClinGen:CA10643731C1861303 186580 Blau syndrome;
NM_001370466.1(NOD2):c.*1200A>G64127NOD2Uncertain significance-1RCV001117060|RCV001117061; NMONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340|MONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600165076693050766930AG16:g.50766930A>G-
NM_001370466.1(NOD2):c.*1201T>A64127NOD2Uncertain significancers751525993RCV000288399|RCV000382001; NMONDO:MONDO:0009960,MedGen:C0678202,OMIM:266600|MONDO:MONDO:0008523,MedGen:C5201146,OMIM:186580, Orphanet:90340165076693150766931TA16:g.50766931T>AClinGen:CA10647620C1861303 186580 Blau syndrome;
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