MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:3187
Name:Cryopyrin-Associated Periodic Syndromes
Definition:A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. The atypical hives do not involve T-cell or autoantibody. Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells Syndrome; and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 PROTEIN mutations.
Alternative IDs:OMIM:120100|OMIM:607115|OMIM:614468|OMIM:616115
ParentIDs:MESH:D056660
TreeNumbers:C16.320.382.500 |C17.800.827.368.500
Synonyms:ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED |CAPS1 |CAPS3 |Chronic Infantile Neurological, Cutaneous, and Articular Syndrome |Chronic, Infantile, Neurological, Cutaneous, Articular Syndrome |Chronic Infantile Neurologic, Cutaneous, and Arti
Slim Mappings:Genetic disease (inborn)|Skin disease
Reference: MedGen: D056587
MeSH: D056587
OMIM: 607115;
MSeqDR LSDB:  
Genes: NLRC4; NLRP3; PLCG2;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0001945Fever
3 HP:0002007Frontal bossing
4 HP:0001510Growth delay
NAMDC:  Growth delay
5 HP:0000408Progressive sensorineural hearing impairment
6 HP:0000520Proptosis
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001243133.2(NLRP3):c.-710C>T114548NLRP3Uncertain significancers199723383RCV000271622|RCV000331375|RCV000389306; NMONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:470451247581393247581393CT1:g.247581393C>TClinGen:CA10609700
NM_001243133.2(NLRP3):c.-686C>T114548NLRP3Uncertain significancers201896158RCV001101647|RCV001101646|RCV001101645; NMONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:470451247581417247581417CT1:g.247581417C>T-
NM_001243133.2(NLRP3):c.-685G>A114548NLRP3Uncertain significancers768557674RCV000294943|RCV000336018|RCV000371949; NMONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:470451247581418247581418GA1:g.247581418G>AClinGen:CA10610750C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome;
NM_001243133.2(NLRP3):c.-629C>T114548NLRP3Uncertain significancers200090360RCV000281885|RCV000336943|RCV000395164; NMONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:470451247581474247581474CT1:g.247581474C>TClinGen:CA10609702C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome;
NM_001243133.2(NLRP3):c.-561T>G114548NLRP3Benignrs72771992RCV000301996|RCV000342525|RCV000399592; NMONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:470451247581542247581542TG1:g.247581542T>GClinGen:CA10610847C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome;
NM_001243133.2(NLRP3):c.-543A>T114548NLRP3Benignrs116502550RCV000272392|RCV000307404|RCV000362149; NMONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:14511247581560247581560AT1:g.247581560A>TClinGen:CA10610765C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome;
NM_001243133.2(NLRP3):c.-533C>G114548NLRP3Uncertain significancers141994679RCV000273623|RCV000308710|RCV000368184; NMONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:470451247581570247581570CG1:g.247581570C>GClinGen:CA10609953C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome;
NM_001243133.2(NLRP3):c.-533C>T114548NLRP3Benignrs141994679RCV000261162|RCV000333962|RCV000388539; NMONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:470451247581570247581570CT1:g.247581570C>TClinGen:CA10609954C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome;
NM_001243133.2(NLRP3):c.-523G>A114548NLRP3Uncertain significancers1662192950RCV001097956|RCV001097957|RCV001097958; NMONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:14511247581580247581580GA1:g.247581580G>A-
NM_001243133.2(NLRP3):c.-482dup114548NLRP3Uncertain significancers144128307RCV000281083|RCV000316335|RCV000375551; NMONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0018768,MedGen:C0343068,OMIM:PS120100, Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:5751247581609247581610CCT1:g.247581609_247581610insTClinGen:CA10610766C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome;
NM_001243133.2(NLRP3):c.-460G>A114548NLRP3Uncertain significancers199475727RCV000089294|RCV000287297|RCV000340662|RCV000376656; NMedGen:CN517202|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:14511247581643247581643GA1:g.247581643G>AClinGen:CA229998C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome;
NM_001243133.2(NLRP3):c.-411T>C114548NLRP3Benignrs7523422RCV000307398|RCV000342282|RCV000396602; NMONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:5751247581692247581692TC1:g.247581692T>CClinGen:CA10609969C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome;
NM_001243133.2(NLRP3):c.-407C>T114548NLRP3Uncertain significancers12741165RCV001099753|RCV001099754|RCV001101728; NMONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:5751247581696247581696CT1:g.247581696C>T-
NM_001243133.2(NLRP3):c.-369G>A114548NLRP3Uncertain significancers202203407RCV001101729|RCV001101731|RCV001101730; NMONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:14511247581734247581734GA1:g.247581734G>A-
NM_001243133.2(NLRP3):c.-339C>T114548NLRP3Uncertain significancers201966092RCV001101733|RCV001101734|RCV001101732; NMONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:5751247581764247581764CT1:g.247581764C>T-
NM_001243133.2(NLRP3):c.-231G>A114548NLRP3Benignrs138900557RCV000313147|RCV000347982|RCV000396614; NMONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:470451247581872247581872GA1:g.247581872G>AClinGen:CA10610851C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome;
NM_001243133.2(NLRP3):c.-219G>A114548NLRP3Uncertain significancers1282180723RCV001096315|RCV001096317|RCV001096316; NMONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:14511247581884247581884GA1:g.247581884G>A-
NM_001243133.2(NLRP3):c.-203G>A114548NLRP3Uncertain significancers1042817230RCV000275778|RCV000298123|RCV000367760; NMONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:14511247581900247581900GA1:g.247581900G>AClinGen:CA10609970C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome;
NM_001243133.2(NLRP3):c.-122T>C114548NLRP3Uncertain significancers202234129RCV000262849|RCV000318127|RCV000352923; NMONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:5751247581981247581981TC1:g.247581981T>CClinGen:CA10610773C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome;
NM_001243133.2(NLRP3):c.-74G>A114548NLRP3Uncertain significancers202076321RCV000264171|RCV000324054|RCV000358840; NMONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:5751247582029247582029GA1:g.247582029G>AClinGen:CA10609971C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome;
NM_001243133.2(NLRP3):c.-68C>T114548NLRP3Uncertain significancers201758466RCV000288242|RCV000326829|RCV000378645; NMONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:470451247582035247582035CT1:g.247582035C>TClinGen:CA10609705
NM_001243133.2(NLRP3):c.-40G>T114548NLRP3Benignrs73136263RCV000291636|RCV000348931|RCV000383741|RCV000757571|RCV001689978; NMONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MedGen:CN235283|MedGen:CN5172021247582063247582063GT1:g.247582063G>TClinGen:CA1494725
NM_001243133.2(NLRP3):c.28A>C (p.Arg10=)114548NLRP3Uncertain significancers1057515531RCV000295170|RCV000352212|RCV000396934; NMONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:5751247582130247582130AC1:g.247582130A>CClinGen:CA10610852
NM_001243133.2(NLRP3):c.122G>A (p.Arg41Lys)114548NLRP3Uncertain significancers201384608RCV001099837|RCV001101830|RCV001101829; NMONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:5751247582224247582224GA1:g.247582224G>A-
NM_001243133.2(NLRP3):c.194C>G (p.Ala65Gly)114548NLRP3Conflicting interpretations of pathogenicityrs763252989RCV000298550|RCV000355739|RCV000396941|RCV000484612; NMONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MedGen:CN5172021247582296247582296CG1:g.247582296C>GClinGen:CA1494759
NM_001243133.2(NLRP3):c.203T>C (p.Met68Thr)114548NLRP3Benign/Likely benignrs147559626RCV000302044|RCV000359131|RCV000401166|RCV000951016|RCV001484202; NMONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MedGen:CN517202|MONDO:MONDO:0016168,MedGen:C2316212, Orphanet:2086501247582305247582305TC1:g.247582305T>CClinGen:CA1494761
NM_001243133.2(NLRP3):c.207C>T (p.Ala69=)114548NLRP3Benignrs200082602RCV000127215|RCV000266801|RCV000323815|RCV000362249|RCV000871304|RCV001573660; NMedGen:CN169374|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0016168,MedGen:C2316212, Orphanet:2086501247582309247582309CT1:g.247582309C>TClinGen:CA292546C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome;
NM_001243133.2(NLRP3):c.208G>A (p.Val70Met)114548NLRP3Conflicting interpretations of pathogenicityrs117287351RCV000236962|RCV000269968|RCV000327334|RCV000384324|RCV000757572|RCV001079905; NMedGen:CN169374|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MedGen:CN517202|MONDO:MONDO:0016168,MedGen:C23162121247582310247582310GA1:g.247582310G>AClinGen:CA1494763
NM_001243133.2(NLRP3):c.234G>A (p.Arg78=)114548NLRP3Uncertain significancers202232879RCV001096405|RCV001096406|RCV001098147; NMONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:14511247582336247582336GA1:g.247582336G>A-
NM_001243133.2(NLRP3):c.277+11G>A114548NLRP3Benign/Likely benignrs577522959RCV000292307|RCV000330996|RCV000387874|RCV000444178; NMONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MedGen:CN1693741247582390247582390GA1:g.247582390G>AClinGen:CA1494781
NM_001243133.2(NLRP3):c.292C>G (p.Arg98Gly)114548NLRP3Uncertain significancers375013904RCV001098148|RCV001098149|RCV001098150; NMONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:470451247586546247586546CG1:g.247586546C>G-
NM_001243133.2(NLRP3):c.397+7G>A114548NLRP3Benign/Likely benignrs192297357RCV000278873|RCV000336234|RCV000404771|RCV000514879|RCV000825677|RCV001086836; NMONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0016168,MedGen:C23162121247586658247586658GA1:g.247586658G>AClinGen:CA1494839
NM_001243133.2(NLRP3):c.398-15C>T114548NLRP3Benignrs200906786RCV001099924|RCV001099922|RCV001099923|RCV001537258; NMONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MedGen:CN5172021247587134247587134CT1:g.247587134C>T-
NM_001243133.2(NLRP3):c.398-5C>T114548NLRP3Benign/Likely benignrs200459664RCV000282384|RCV000339583|RCV000395076|RCV001491070; NMONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0016168,MedGen:C2316212, Orphanet:2086501247587144247587144CT1:g.247587144C>TClinGen:CA1494864
NM_001243133.2(NLRP3):c.423C>T (p.Tyr141=)114548NLRP3Benignrs56710146RCV000304610|RCV000361620|RCV000395080|RCV000615860|RCV000757569|RCV001083594|RCV001689979; NMONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MedGen:CN169374|MedGen:CN235283|MONDO:MONDO:0016168,MedGen:C23162121247587174247587174CT1:g.247587174C>TClinGen:CA1494872
NM_001243133.2(NLRP3):c.476G>T (p.Ser159Ile)114548NLRP3Likely benignrs374170024RCV001101931|RCV001101930|RCV001101932; NMONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:14511247587227247587227GT1:g.247587227G>T-
NM_001243133.2(NLRP3):c.565G>A (p.Gly189Ser)114548NLRP3Uncertain significancers201877163RCV001096513|RCV001101933|RCV001101934; NMONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:470451247587316247587316GA1:g.247587316G>A-
NM_001243133.2(NLRP3):c.587G>A (p.Ser196Asn)114548NLRP3Benign/Likely benignrs180177459RCV000084226|RCV000308464|RCV000365471|RCV001465871; NMONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0016168,MedGen:C2316212, Orphanet:2086501247587338247587338GA1:g.247587338G>AClinGen:CA281335C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome;
NM_001243133.2(NLRP3):c.657C>T (p.Thr219=)114548NLRP3Benignrs7525979RCV000253525|RCV000276738|RCV000334195|RCV000369011|RCV001281888|RCV001519826|RCV001706345; NMedGen:CN169374|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MedGen:CN235283|MONDO:MONDO:0016168,MedGen:C23162121247587408247587408CT1:g.247587408C>TClinGen:CA1494918C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome;
NM_001243133.2(NLRP3):c.726G>A (p.Ala242=)114548NLRP3Benignrs3806268RCV000245535|RCV000260400|RCV000318048|RCV000371499|RCV001283176|RCV001519827|RCV001781463; NMedGen:CN169374|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MedGen:CN235283|MONDO:MONDO:0016168,MedGen:C23162121247587477247587477GA1:g.247587477G>AClinGen:CA292555C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome;
NM_001243133.2(NLRP3):c.743A>G (p.Gln248Arg)114548NLRP3Uncertain significancers876660971RCV000217305|RCV000282886|RCV000340287|RCV000374935; NMedGen:CN517202|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:5751247587494247587494AG1:g.247587494A>GClinGen:CA10577229
NM_001243133.2(NLRP3):c.779G>C (p.Arg260Pro)114548NLRP3Likely pathogenicrs180177442RCV000084230|RCV000788842|RCV001028056; NMONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MedGen:CN517202|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:14511247587530247587530GC1:g.247587530G>CClinGen:CA281351
NM_001243133.2(NLRP3):c.907G>A (p.Asp303Asn)114548NLRP3Pathogenicrs121908153RCV000004626|RCV000004627|RCV000084240|RCV000214348|RCV000527671; NMONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MedGen:CN517202|MONDO:MONDO:0016168,MedGen:C2316212, Orphanet:2086501247587658247587658GA1:g.247587658G>AClinGen:CA116796,OMIM:606416.0008
NM_001243133.2(NLRP3):c.926T>C (p.Phe309Ser)114548NLRP3Pathogenicrs121908154RCV000004628|RCV000084248; NMONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:470451247587677247587677TC1:g.247587677T>CClinGen:CA116800,OMIM:606416.0009C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome;
NM_001243133.2(NLRP3):c.944C>T (p.Pro315Leu)114548NLRP3Conflicting interpretations of pathogenicityrs180177462RCV000084253|RCV000213159|RCV000344447|RCV000378566|RCV001195579|RCV001226114; NMONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MedGen:CN517202|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MedGen:CN169374|MONDO:MONDO:0016168,MedGen:C23162121247587695247587695CT1:g.247587695C>TClinGen:CA281435C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome;
NM_001243133.2(NLRP3):c.964A>G (p.Lys322Glu)114548NLRP3Uncertain significancers1662708025RCV001102017|RCV001102018|RCV001102019; NMONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:470451247587715247587715AG1:g.247587715A>G-
NM_001243133.2(NLRP3):c.1032G>A (p.Leu344=)114548NLRP3Benignrs180177471RCV000084166|RCV000309314|RCV000393237|RCV000645584|RCV001001945|RCV001610386; NMONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0016168,MedGen:C2316212, Orphanet:208650|MedGen:CN1693741247587783247587783GA1:g.247587783G>AClinGen:CA281113C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome;
NM_001243133.2(NLRP3):c.1044G>A (p.Thr348=)114548NLRP3Benignrs143140947RCV000127220|RCV000277575|RCV000312669|RCV000369787|RCV000756447|RCV001082831; NMedGen:CN169374|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MedGen:CN517202|MONDO:MONDO:0016168,MedGen:C23162121247587795247587795GA1:g.247587795G>AClinGen:CA292561C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome;
NM_001243133.2(NLRP3):c.1119G>A (p.Glu373=)114548NLRP3Benign/Likely benignrs138613962RCV000263111|RCV000298450|RCV000355663|RCV000507609|RCV000645589|RCV001660575; NMONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MedGen:CN169374|MONDO:MONDO:0016168,MedGen:C2316212, Orphanet:2086501247587870247587870GA1:g.247587870G>AClinGen:CA1494985
NM_001243133.2(NLRP3):c.1231C>T (p.Leu411=)114548NLRP3Benign/Likely benignrs148478875RCV000084177|RCV000266872|RCV000252898|RCV000377739|RCV000755588|RCV001080970|RCV001283640; NMONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MedGen:CN169374|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MedGen:CN517202|MONDO:MONDO:0016168,MedGen:C23162121247587982247587982CT1:g.247587982C>TClinGen:CA281153C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome;
NM_001243133.2(NLRP3):c.1245C>T (p.Ile415=)114548NLRP3Benign/Likely benignrs139852370RCV000288660|RCV000324235|RCV000381161|RCV001675776|RCV001518759; NMONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MedGen:CN517202|MONDO:MONDO:0016168,MedGen:C2316212, Orphanet:2086501247587996247587996CT1:g.247587996C>TClinGen:CA1495001
NM_001243133.2(NLRP3):c.1302C>T (p.Ser434=)114548NLRP3Benignrs34298354RCV000244073|RCV000292239|RCV000345895|RCV000384276|RCV001282702|RCV001514832|RCV001706344|RCV001782745; NMedGen:CN169374|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MedGen:CN235283|MONDO:MONDO:0016168,MedGen:C23162121247588053247588053CT1:g.247588053C>TClinGen:CA1495007C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome;
NM_001243133.2(NLRP3):c.1361G>A (p.Gly454Glu)114548NLRP3Conflicting interpretations of pathogenicityrs199696688RCV000314760|RCV000349546|RCV000401914|RCV001569340|RCV001195578; NMONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MedGen:CN517202|MedGen:CN1693741247588112247588112GA1:g.247588112G>AClinGen:CA1495015
NM_001243133.2(NLRP3):c.1374C>T (p.His458=)114548NLRP3Benign/Likely benignrs180177481RCV000084188|RCV000334593|RCV000396900|RCV001697073; NMONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MedGen:CN5172021247588125247588125CT1:g.247588125C>TClinGen:CA281197C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome;
NM_001243133.2(NLRP3):c.1389C>T (p.His463=)114548NLRP3Benign/Likely benignrs111400208RCV000084190|RCV000249054|RCV000303340|RCV000401266|RCV000755589|RCV001082261; NMONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MedGen:CN169374|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MedGen:CN517202|MONDO:MONDO:0016168,MedGen:C23162121247588140247588140CT1:g.247588140C>TClinGen:CA281205C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome;
NM_001243133.2(NLRP3):c.1440C>A (p.Ile480=)114548NLRP3Benign/Likely benignrs756162800RCV000943718|RCV001102127|RCV001102128|RCV001102129|RCV001490134; NMedGen:CN517202|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0016168,MedGen:C2316212, Orphanet:2086501247588191247588191CA1:g.247588191C>A-
NM_001243133.2(NLRP3):c.1584C>T (p.Ala528=)114548NLRP3Benignrs201644343RCV000127222|RCV000268161|RCV000325594|RCV000364278; NMedGen:CN169374|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:14511247588335247588335CT1:g.247588335C>TClinGen:CA292567C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome;
NM_001243133.2(NLRP3):c.1600C>T (p.Leu534=)114548NLRP3Benignrs116054301RCV000084199|RCV000254018|RCV000271977|RCV000329355|RCV000553030|RCV001668213; NMONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MedGen:CN169374|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0016168,MedGen:C2316212, Orphanet:2086501247588351247588351CT1:g.247588351C>TClinGen:CA281238C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome;
NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys)114548NLRP3Conflicting interpretations of pathogenicityrs139833874RCV000645590|RCV000768276|RCV000825794|RCV001088695; NMedGen:CN517202|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451; MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045; MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MedGen:CN169374|MONDO:MONDO:0016168,MedGen:C23162121247588390247588390AT1:g.247588390A>TClinGen:CA1495048C2316212 Cryopyrin associated periodic syndrome;
NM_001243133.2(NLRP3):c.1645T>C (p.Leu549=)114548NLRP3Benign/Likely benignrs144469697RCV000294387|RCV000333083|RCV000389825|RCV000832533|RCV000825206|RCV001078791; NMONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0016168,MedGen:C23162121247588396247588396TC1:g.247588396T>CClinGen:CA1495051
NM_001243133.2(NLRP3):c.1718T>C (p.Phe573Ser)114548NLRP3Pathogenicrs121908152RCV000004625|RCV000084210; NMONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:470451247588469247588469TC1:g.247588469T>CClinGen:CA116792,OMIM:606416.0007C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome;
NM_001243133.2(NLRP3):c.1780T>C (p.Leu594=)114548NLRP3Uncertain significancers895366086RCV001098455|RCV001098454|RCV001098453; NMONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:14511247588531247588531TC1:g.247588531T>C-
NM_001243133.2(NLRP3):c.1814A>T (p.Glu605Val)114548NLRP3Uncertain significancers745564372RCV000692003|RCV000768277; NMONDO:MONDO:0016168,MedGen:C2316212, Orphanet:208650|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575; MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451; MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:470451247588565247588565AT1:g.247588565A>T-
NM_001243133.2(NLRP3):c.1920C>T (p.Phe640=)114548NLRP3Benign/Likely benignrs34698071RCV000127223|RCV000279144|RCV000336634|RCV000404145|RCV000872603; NMedGen:CN169374|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0016168,MedGen:C2316212, Orphanet:2086501247588671247588671CT1:g.247588671C>TClinGen:CA292570C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome;
NM_001243133.2(NLRP3):c.1937A>G (p.Asp646Gly)114548NLRP3Uncertain significancers1342790456RCV001329328; NMONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:14511247588688247588688AG247588688-
NM_001243133.2(NLRP3):c.2098G>A (p.Asp700Asn)114548NLRP3Conflicting interpretations of pathogenicityrs781561828RCV000768030|RCV001592950; NMONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575; MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045; MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MedGen:CN5172021247588849247588849GA1:g.247588849G>A-
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys)114548NLRP3Conflicting interpretations of pathogenicityrs35829419RCV000246002|RCV000282807|RCV000340224|RCV000394881|RCV000416176|RCV000531876|RCV001283202; NMedGen:CN169374|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MedGen:CN517202|MONDO:MONDO:0016168,MedGen:C23162121247588858247588858CA1:g.247588858C>AClinGen:CA1495112,UniProtKB:Q96P20#VAR_043693
NM_001243133.2(NLRP3):c.2118C>T (p.Leu706=)114548NLRP3Benign/Likely benignrs149493236RCV000127224|RCV000307210|RCV000361891|RCV000396527|RCV000877580|RCV001312143; NMedGen:CN169374|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0016168,MedGen:C2316212, Orphanet:2086501247588869247588869CT1:g.247588869C>TClinGen:CA292573C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome;
NM_001243133.2(NLRP3):c.2120C>A (p.Pro707Gln)114548NLRP3Uncertain significancers200378519RCV000707651|RCV000763848; NMONDO:MONDO:0016168,MedGen:C2316212, Orphanet:208650|MONDO:MONDO:0007849,MedGen:C1835697,OMIM:148200; MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451; MONDO:MONDO:0033261,MedGen:C4521680,OMIM:617772; MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191247588871247588871CA1:g.247588871C>A-C2316212 Cryopyrin associated periodic syndrome;
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly)114548NLRP3Conflicting interpretations of pathogenicityrs147946775RCV000216458|RCV000263610|RCV000303538|RCV000552226|RCV000626053|RCV001172030; NMedGen:CN169374|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0016168,MedGen:C2316212, Orphanet:208650|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:470451247592912247592912AG1:g.247592912A>GClinGen:CA1495151C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome;
NM_001243133.2(NLRP3):c.2185C>A (p.Arg729=)114548NLRP3Conflicting interpretations of pathogenicityrs148590318RCV000259860|RCV000318729|RCV000354656|RCV001047399; NMONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0016168,MedGen:C2316212, Orphanet:2086501247592921247592921CA1:g.247592921C>AClinGen:CA1495153
NM_001243133.2(NLRP3):c.2214C>T (p.Ser738=)114548NLRP3Benign/Likely benignrs183128734RCV000293721|RCV000333794|RCV000388302|RCV000876478|RCV001517182; NMONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MedGen:CN517202|MONDO:MONDO:0016168,MedGen:C2316212, Orphanet:2086501247592950247592950CT1:g.247592950C>TClinGen:CA1495157
NM_001243133.2(NLRP3):c.2255G>A (p.Gly752Glu)114548NLRP3Uncertain significancers1305028279RCV001096803|RCV001096802|RCV001102209; NMONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:14511247592991247592991GA1:g.247592991G>A-
NM_001243133.2(NLRP3):c.2301C>G (p.Gly767=)114548NLRP3Likely benignrs150229101RCV000290121|RCV000329990|RCV000384478; NMONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:14511247593037247593037CG1:g.247593037C>GClinGen:CA1495170
NM_001243133.2(NLRP3):c.2424C>T (p.Leu808=)114548NLRP3Benign/Likely benignrs147154764RCV000286815|RCV000345238|RCV000402598|RCV000892571|RCV001597041; NMONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0016168,MedGen:C2316212, Orphanet:208650|MedGen:CN5172021247597507247597507CT1:g.247597507C>TClinGen:CA1495236
NM_001243133.2(NLRP3):c.2425G>A (p.Gly809Ser)114548NLRP3Conflicting interpretations of pathogenicityrs141389711RCV000218819|RCV001087354|RCV001098560|RCV001098561|RCV001098562; NMedGen:CN517202|MONDO:MONDO:0016168,MedGen:C2316212, Orphanet:208650|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:5751247597508247597508GA1:g.247597508G>AClinGen:CA1495237
NM_001243133.2(NLRP3):c.2433C>T (p.Phe811=)114548NLRP3Benign/Likely benignrs143175395RCV001098564|RCV001098563|RCV001098565|RCV001432496; NMONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0016168,MedGen:C2316212, Orphanet:2086501247597516247597516CT1:g.247597516C>T-
NM_001243133.2(NLRP3):c.2505C>T (p.Cys835=)114548NLRP3Conflicting interpretations of pathogenicityrs1351993448RCV000877160|RCV001098566|RCV001098567|RCV001100328|RCV001504103; NMedGen:CN517202|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0016168,MedGen:C2316212, Orphanet:2086501247599284247599284CT1:g.247599284C>T-
NM_001243133.2(NLRP3):c.2598A>G (p.Gly866=)114548NLRP3Benignrs763106202RCV001100329|RCV001100330|RCV001100331; NMONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:470451247599377247599377AG1:g.247599377A>G-
NM_001243133.2(NLRP3):c.2632A>G (p.Lys878Glu)114548NLRP3Uncertain significancers1057515488RCV000301600|RCV000341761|RCV000394800; NMONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:470451247599411247599411AG1:g.247599411A>GClinGen:CA10610786
NM_001243133.2(NLRP3):c.2761A>G (p.Thr921Ala)114548NLRP3Conflicting interpretations of pathogenicityrs200089542RCV000220153|RCV000298441|RCV000337870|RCV000394837|RCV000813164; NMedGen:CN517202|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0016168,MedGen:C2316212, Orphanet:2086501247607371247607371AG1:g.247607371A>GClinGen:CA1495350
NM_001243133.2(NLRP3):c.2784A>C (p.Lys928Asn)114548NLRP3Uncertain significancers876660975RCV000219402|RCV000763849|RCV001197561|RCV001321976; NMedGen:CN517202|MONDO:MONDO:0033261,MedGen:C4521680,OMIM:617772; MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451; MONDO:MONDO:0007849,MedGen:C1835697,OMIM:148200; MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045; MONDO:MONDO:00081247607394247607394AC1:g.247607394A>CClinGen:CA10577236
NM_001243133.2(NLRP3):c.2834+1G>A114548NLRP3Uncertain significancers1572228102RCV001027795; NMONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045; MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451; MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:5751247607445247607445GA1:g.247607445G>A-
NM_001243133.2(NLRP3):c.2855C>T (p.Thr952Met)114548NLRP3Conflicting interpretations of pathogenicityrs139814109RCV000220345|RCV000313549|RCV000353278|RCV000277197|RCV000756443|RCV001082685|RCV001705232; NMedGen:CN169374|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MedGen:CN235283|MONDO:MONDO:0016168,MedGen:C23162121247607973247607973CT1:g.247607973C>TClinGen:CA1495380
NM_001243133.2(NLRP3):c.3037A>G (p.Lys1013Glu)114548NLRP3Uncertain significancers771315000RCV000222974|RCV000690719|RCV001102298|RCV001102300|RCV001102299; NMedGen:CN517202|MONDO:MONDO:0016168,MedGen:C2316212, Orphanet:208650|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:5751247611738247611738AG1:g.247611738A>GClinGen:CA1495433C2316212 Cryopyrin associated periodic syndrome;
NM_001243133.2(NLRP3):c.3042T>C (p.Ser1014=)114548NLRP3Uncertain significancers1057515489RCV000272932|RCV000328094|RCV000367581; NMONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:14511247611743247611743TC1:g.247611743T>CClinGen:CA10609972
NM_001243133.2(NLRP3):c.3048A>C (p.Leu1016Phe)114548NLRP3Conflicting interpretations of pathogenicityrs143548979RCV000883290|RCV001280995|RCV001664527; NMONDO:MONDO:0016168,MedGen:C2316212, Orphanet:208650|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451; MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575; MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MedGen:CN5172021247611749247611749AC1:g.247611749A>C-
NM_001243133.2(NLRP3):c.*2A>G114548NLRP3Uncertain significancers1664748029RCV001096894|RCV001096895|RCV001096896; NMONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:5751247611808247611808AG1:g.247611808A>G-
NM_001243133.2(NLRP3):c.*116G>T114548NLRP3Benignrs199713471RCV001096897|RCV001096898|RCV001098652; NMONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:470451247611922247611922GT1:g.247611922G>T-
NM_001243133.2(NLRP3):c.*139T>G114548NLRP3Uncertain significancers1664758254RCV001098655|RCV001098654|RCV001098653; NMONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:14511247611945247611945TG1:g.247611945T>G-
NM_001243133.2(NLRP3):c.*177del114548NLRP3Benignrs796764638RCV000269272|RCV000324378|RCV000382650; NMONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0018768,MedGen:C0343068,OMIM:PS120100, Orphanet:470451247611982247611982TCT1:g.247611982_247611982delClinGen:CA10610859
NM_001243133.2(NLRP3):c.*230G>C114548NLRP3Benignrs10754558RCV000284662|RCV000339908|RCV000379007|RCV001516896; NMONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0016168,MedGen:C2316212, Orphanet:2086501247612036247612036GC1:g.247612036G>CClinGen:CA10609714
NM_004895.4(NLRP3):c.*324_*327del114548NLRP3Uncertain significancers886506882RCV000281274|RCV000336340|RCV000375840; NMONDO:MONDO:0018768,MedGen:C0343068,OMIM:PS120100, Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:14511247612127247612130CTCTGC1:g.247612127_247612130delClinGen:CA10610787
NM_004895.4(NLRP3):c.*328_*331del114548NLRP3Uncertain significancers1057515460RCV000315429|RCV000351718|RCV000403161; NMONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0018768,MedGen:C0343068,OMIM:PS120100, Orphanet:470451247612132247612135TCTAAT1:g.247612132_247612135delClinGen:CA10610860
NM_004895.4(NLRP3):c.*351dup114548NLRP3Benignrs397821684RCV000310921|RCV000365636|RCV000396126; NMONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0018768,MedGen:C0343068,OMIM:PS120100, Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:5751247612151247612152CCT1:g.247612151_247612152insTClinGen:CA10610863
NC_000001.11:g.247448882A>C114548NLRP3Uncertain significancers1664772078RCV001100455|RCV001100456|RCV001100457; NMONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:5751247612184247612184AC1:g.247612184A>C-
NM_004895.4(NLRP3):c.*396T>A114548NLRP3Benignrs10802501RCV000272091|RCV000308432|RCV000363084; NMONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:5751247612202247612202TA1:g.247612202T>AClinGen:CA10610788
NC_000001.11:g.247448935G>A114548NLRP3Uncertain significancers1296786716RCV001102410|RCV001102411|RCV001102412; NMONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:470451247612237247612237GA1:g.247612237G>A-
NM_004895.4(NLRP3):c.*489C>T114548NLRP3Benignrs10802502RCV000268476|RCV000323458|RCV000378153; NMONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:1451|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:470451247612295247612295CT1:g.247612295C>TClinGen:CA10609973
NM_004895.4(NLRP3):c.*604A>C114548NLRP3Uncertain significancers1057515532RCV000264737|RCV000319789|RCV000374567; NMONDO:MONDO:0008633,MedGen:C0268390,OMIM:191900, Orphanet:575|MONDO:MONDO:0007349,MedGen:C4551895,OMIM:120100, Orphanet:47045|MONDO:MONDO:0011776,MedGen:C0409818,OMIM:607115, Orphanet:14511247612410247612410AC1:g.247612410A>CClinGen:CA10610864
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