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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Cryopyrin-Associated Periodic Syndromes (D056587)
Parent Node: Urticaria (D014581)
..Starting node ..FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 (OMIM:120100)
Child Nodes:
Sister Nodes:
..Angioedema (D000799) 5
..FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1 (OMIM:120100)
..Familial dermographism (C536612)
..MUCKLE-WELLS SYNDROME (OMIM:191900)
..Papular urticaria (C537169)
..Urticaria, Aquagenic (C562481)
..Urticaria, Familial Localized Heat (C566011)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4126

Name:

FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 1

Definition:

Alternative IDs:

ParentIDs:

MESH:D014581|MESH:D056587

TreeNumbers:

C16.320.382.500/120100 |C17.800.827.368.500/120100 |C17.800.862.945/120100 |C20.543.480.904/120100

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Immune system disease|Skin disease

Reference:

MedGen: 120100
MeSH: 120100
OMIM: 120100;

Genes: NLRP3;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0003593	Infantile onset
3	HP:0002829	Arthralgia
4	HP:0000509	Conjunctivitis
5	HP:0002315	Headache
6	HP:0001974	Leukocytosis
7	HP:0003326	Myalgia
8	HP:0001954	Recurrent fever
9	HP:0001917	Renal amyloidosis	HP:0040283

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001243133.1(NLRP3):c.398-56C>T	114548	NLRP3	not provided	180177455	RCV000084222;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587093	247587093	NM_001243133.1:c.398-56C>T		NC_000001.10:g.247587093C>T	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.443G>A (p.Cys148Tyr)	114548	NLRP3	not provided	180177487	RCV000084223;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587194	247587194	NM_001243133.1:c.443G>A	NP_001230062.1:p.Cys148Tyr	NC_000001.10:g.247587194G>A	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.503G>A (p.Arg168Gln)	114548	NLRP3	not provided	180177464	RCV000084224;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587254	247587254	NM_001243133.1:c.503G>A	NP_001230062.1:p.Arg168Gln	NC_000001.10:g.247587254G>A	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.515T>C (p.Ile172Thr)	114548	NLRP3	not provided	180177449	RCV000084225;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587266	247587266	NM_001243133.1:c.515T>C	NP_001230062.1:p.Ile172Thr	NC_000001.10:g.247587266T>C	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.587G>A (p.Ser196Asn)	114548	NLRP3	not provided	180177459	RCV000084226;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587338	247587338	NM_001243133.1:c.587G>A	NP_001230062.1:p.Ser196Asn	NC_000001.10:g.247587338G>A	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.592G>A (p.Val198Met)	114548	NLRP3	Pathogenic	121908147	RCV000004619;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587343	247587343	NM_001243133.1:c.592G>A	NP_001230062.1:p.Val198Met	NC_000001.10:g.247587343G>A	OMIM Allelic Variant:606416.0002	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.674C>T (p.Ala225Val)	114548	NLRP3	Uncertain significance	180177493	RCV000084227; RCV000217712;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000; MedGen:CN169374	1	247587425	247587425	NM_001243133.1:c.674C>T	NP_001230062.1:p.Ala225Val	NC_000001.10:g.247587425C>T	-	C0343068 120100 Familial cold urticaria; CN169374 not specified
NM_001243133.1(NLRP3):c.699G>A (p.Leu233=)	114548	NLRP3	not provided	180177498	RCV000084228;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587450	247587450	NM_001243133.1:c.699G>A	NP_001230062.1:p.Leu233=	NC_000001.10:g.247587450G>A	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.777T>G (p.Cys259Trp)	114548	NLRP3	not provided	180177475	RCV000084229;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587528	247587528	NM_001243133.1:c.777T>G	NP_001230062.1:p.Cys259Trp	NC_000001.10:g.247587528T>G	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.778C>T (p.Arg260Trp)	114548	NLRP3	Pathogenic	121908150	RCV000004623; RCV000004622; RCV000221297;	N	MedGen:C0268390,OMIM:191900,ORPHA:575,SNOMED CT:15123008; MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000; MedGen:CN221809	1	247587529	247587529	NM_001243133.1:c.778C>T	NP_001230062.1:p.Arg260Trp	NC_000001.10:g.247587529C>T	OMIM Allelic Variant:606416.0005	C0268390 191900 Familial amyloid nephropathy with urticaria AND deafness; C0343068 120100 Familial cold urticaria; CN221809 not provided
NM_001243133.1(NLRP3):c.779G>C (p.Arg260Pro)	114548	NLRP3	not provided	180177442	RCV000084230;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587530	247587530	NM_001243133.1:c.779G>C	NP_001230062.1:p.Arg260Pro	NC_000001.10:g.247587530G>C,NC_000001.10:g.247587530G>T	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.779G>T (p.Arg260Leu)	114548	NLRP3	not provided	180177442	RCV000084231;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587530	247587530	NM_001243133.1:c.779G>T	NP_001230062.1:p.Arg260Leu	NC_000001.10:g.247587530G>C,NC_000001.10:g.247587530G>T	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.785T>C (p.Val262Ala)	114548	NLRP3	not provided	104895392	RCV000084232;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587536	247587536	NM_001243133.1:c.785T>C	NP_001230062.1:p.Val262Ala	NC_000001.10:g.247587536T>C,NC_000001.10:g.247587536T>G	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.785T>G (p.Val262Gly)	114548	NLRP3	not provided	104895392	RCV000084233;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587536	247587536	NM_001243133.1:c.785T>G	NP_001230062.1:p.Val262Gly	NC_000001.10:g.247587536T>C,NC_000001.10:g.247587536T>G	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.790C>G (p.Leu264Val)	114548	NLRP3	not provided	180177476	RCV000084234;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587541	247587541	NM_001243133.1:c.790C>G	NP_001230062.1:p.Leu264Val	NC_000001.10:g.247587541C>G,NC_000001.10:g.247587541C>T	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.790C>T (p.Leu264Phe)	114548	NLRP3	not provided	180177476	RCV000084235;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587541	247587541	NM_001243133.1:c.790C>T	NP_001230062.1:p.Leu264Phe	NC_000001.10:g.247587541C>G,NC_000001.10:g.247587541C>T	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.791T>A (p.Leu264His)	114548	NLRP3	not provided	180177436	RCV000084236;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587542	247587542	NM_001243133.1:c.791T>A	NP_001230062.1:p.Leu264His	NC_000001.10:g.247587542T>A,NC_000001.10:g.247587542T>G	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.791T>G (p.Leu264Arg)	114548	NLRP3	not provided	180177436	RCV000084237;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587542	247587542	NM_001243133.1:c.791T>G	NP_001230062.1:p.Leu264Arg	NC_000001.10:g.247587542T>A,NC_000001.10:g.247587542T>G	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.895A>G (p.Met299Val)	114548	NLRP3	not provided	180177494	RCV000084238;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587646	247587646	NM_001243133.1:c.895A>G	NP_001230062.1:p.Met299Val	NC_000001.10:g.247587646A>G	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.902G>A (p.Gly301Asp)	114548	NLRP3	not provided	180177441	RCV000084239;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587653	247587653	NM_001243133.1:c.902G>A	NP_001230062.1:p.Gly301Asp	NC_000001.10:g.247587653G>A	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.907G>A (p.Asp303Asn)	114548	NLRP3	Pathogenic	121908153	RCV000084240; RCV000004627; RCV000004626; RCV000214348;	N	MedGen:C0268390,OMIM:191900,ORPHA:575,SNOMED CT:15123008; MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000; MedGen:C0409818,OMIM:607115,ORPHA:1451,SNOMED CT:239826001; MedGen:CN221809	1	247587658	247587658	NM_001243133.1:c.907G>A	NP_001230062.1:p.Asp303Asn	NC_000001.10:g.247587658G>A,NC_000001.10:g.247587658G>C	OMIM Allelic Variant:606416.0008	C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome; C0268390 191900 Familial amyloid nephropathy with urticaria AND deafness; C0343068 120100 Familial cold urticaria; CN221809 not provided
NM_001243133.1(NLRP3):c.907G>C (p.Asp303His)	114548	NLRP3	not provided	121908153	RCV000084241;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587658	247587658	NM_001243133.1:c.907G>C	NP_001230062.1:p.Asp303His	NC_000001.10:g.247587658G>A,NC_000001.10:g.247587658G>C	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.908A>G (p.Asp303Gly)	114548	NLRP3	not provided	180177447	RCV000084242;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587659	247587659	NM_001243133.1:c.908A>G	NP_001230062.1:p.Asp303Gly	NC_000001.10:g.247587659A>G	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.910G>A (p.Glu304Lys)	114548	NLRP3	Pathogenic	180177484	RCV000084243; RCV000217940;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000; MedGen:CN221809	1	247587661	247587661	NM_001243133.1:c.910G>A	NP_001230062.1:p.Glu304Lys	NC_000001.10:g.247587661G>A	-	C0343068 120100 Familial cold urticaria; CN221809 not provided
NM_001243133.1(NLRP3):c.914T>C (p.Leu305Pro)	114548	NLRP3	Pathogenic	180177431	RCV000084244; RCV000221611;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000; MedGen:CN221809	1	247587665	247587665	NM_001243133.1:c.914T>C	NP_001230062.1:p.Leu305Pro	NC_000001.10:g.247587665T>C	-	C0343068 120100 Familial cold urticaria; CN221809 not provided
NM_001243133.1(NLRP3):c.916C>A (p.Gln306Lys)	114548	NLRP3	not provided	180177432	RCV000084245;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587667	247587667	NM_001243133.1:c.916C>A	NP_001230062.1:p.Gln306Lys	NC_000001.10:g.247587667C>A,NC_000001.10:g.247587667C>G	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.916C>G (p.Gln306Glu)	114548	NLRP3	not provided	180177432	RCV000084246;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587667	247587667	NM_001243133.1:c.916C>G	NP_001230062.1:p.Gln306Glu	NC_000001.10:g.247587667C>A,NC_000001.10:g.247587667C>G	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.920G>T (p.Gly307Val)	114548	NLRP3	not provided	180177468	RCV000084247;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587671	247587671	NM_001243133.1:c.920G>T	NP_001230062.1:p.Gly307Val	NC_000001.10:g.247587671G>T	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.926T>C (p.Phe309Ser)	114548	NLRP3	Pathogenic	121908154	RCV000084248; RCV000004628;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000; MedGen:C0409818,OMIM:607115,ORPHA:1451,SNOMED CT:239826001	1	247587677	247587677	NM_001243133.1:c.926T>C	NP_001230062.1:p.Phe309Ser	NC_000001.10:g.247587677T>C	OMIM Allelic Variant:606416.0009	C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome; C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.930C>T (p.Asp310=)	114548	NLRP3	not provided	143840033	RCV000084249;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587681	247587681	NM_001243133.1:c.930C>T	NP_001230062.1:p.Asp310=	NC_000001.10:g.247587681C>T	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.931G>A (p.Glu311Lys)	114548	NLRP3	not provided	180177470	RCV000084250;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587682	247587682	NM_001243133.1:c.931G>A	NP_001230062.1:p.Glu311Lys	NC_000001.10:g.247587682G>A	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.935A>C (p.His312Pro)	114548	NLRP3	not provided	180177488	RCV000084251;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587686	247587686	NM_001243133.1:c.935A>C	NP_001230062.1:p.His312Pro	NC_000001.10:g.247587686A>C	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.937A>G (p.Ile313Val)	114548	NLRP3	not provided	180177501	RCV000084252;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587688	247587688	NM_001243133.1:c.937A>G	NP_001230062.1:p.Ile313Val	NC_000001.10:g.247587688A>G	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.944C>T (p.Pro315Leu)	114548	NLRP3	Uncertain significance	180177462	RCV000084253; RCV000213159;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000; MedGen:CN169374	1	247587695	247587695	NM_001243133.1:c.944C>T	NP_001230062.1:p.Pro315Leu	NC_000001.10:g.247587695C>T	-	C0343068 120100 Familial cold urticaria; CN169374 not specified
NM_001243133.1(NLRP3):c.973C>T (p.Arg325Trp)	114548	NLRP3	not provided	180177500	RCV000084254;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587724	247587724	NM_001243133.1:c.973C>T	NP_001230062.1:p.Arg325Trp	NC_000001.10:g.247587724C>T	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.977G>A (p.Gly326Glu)	114548	NLRP3	not provided	180177456	RCV000084255;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587728	247587728	NM_001243133.1:c.977G>A	NP_001230062.1:p.Gly326Glu	NC_000001.10:g.247587728G>A	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.993C>A (p.Ser331Arg)	114548	NLRP3	not provided	180177451	RCV000084256;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587744	247587744	NM_001243133.1:c.993C>A	NP_001230062.1:p.Ser331Arg	NC_000001.10:g.247587744C>A	-	C0343068 120100 Familial cold urticaria
NM_004895.4(NLRP3):c.1000A>G (p.Ser334Gly)	114548	NLRP3	not provided	672601258	RCV000084065;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587745	247587745	NM_004895.4:c.1000A>G	NP_004886.3:p.Ser334Gly	NC_000001.10:g.247587745A>G	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1032G>A (p.Leu344=)	114548	NLRP3	not provided	180177471	RCV000084166;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587783	247587783	NM_001243133.1:c.1032G>A	NP_001230062.1:p.Leu344=	NC_000001.10:g.247587783G>A	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1043C>T (p.Thr348Met)	114548	NLRP3	Pathogenic	151344629	RCV000084167; RCV000214584;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000; MedGen:CN221809	1	247587794	247587794	NM_001243133.1:c.1043C>T	NP_001230062.1:p.Thr348Met	NC_000001.10:g.247587794C>T	-	C0343068 120100 Familial cold urticaria; CN221809 not provided
NM_001243133.1(NLRP3):c.1051G>A (p.Val351Met)	114548	NLRP3	not provided	180177463	RCV000084168;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587802	247587802	NM_001243133.1:c.1051G>A	NP_001230062.1:p.Val351Met	NC_000001.10:g.247587802G>A,NC_000001.10:g.247587802G>C	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1051G>C (p.Val351Leu)	114548	NLRP3	not provided	180177463	RCV000084169;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587802	247587802	NM_001243133.1:c.1051G>C	NP_001230062.1:p.Val351Leu	NC_000001.10:g.247587802G>A,NC_000001.10:g.247587802G>C	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1054G>A (p.Ala352Thr)	114548	NLRP3	not provided	180177503	RCV000084170;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587805	247587805	NM_001243133.1:c.1054G>A	NP_001230062.1:p.Ala352Thr	NC_000001.10:g.247587805G>A	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1055C>T (p.Ala352Val)	114548	NLRP3	Pathogenic	121908149	RCV000084171; RCV000004621;	N	MedGen:C0268390,OMIM:191900,ORPHA:575,SNOMED CT:15123008; MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587806	247587806	NM_001243133.1:c.1055C>T	NP_001230062.1:p.Ala352Val	NC_000001.10:g.247587806C>T	OMIM Allelic Variant:606416.0004	C0268390 191900 Familial amyloid nephropathy with urticaria AND deafness; C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1058T>C (p.Leu353Pro)	114548	NLRP3	Pathogenic	28937896	RCV000004629; RCV000219571;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000; MedGen:CN221809	1	247587809	247587809	NM_001243133.1:c.1058T>C	NP_001230062.1:p.Leu353Pro	NC_000001.10:g.247587809T>C	OMIM Allelic Variant:606416.0010	C0343068 120100 Familial cold urticaria; CN221809 not provided
NM_001243133.1(NLRP3):c.1062G>T (p.Glu354Asp)	114548	NLRP3	not provided	180177444	RCV000084172;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587813	247587813	NM_001243133.1:c.1062G>T	NP_001230062.1:p.Glu354Asp	NC_000001.10:g.247587813G>T	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1073A>G (p.His358Arg)	114548	NLRP3	not provided	180177434	RCV000084173;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587824	247587824	NM_001243133.1:c.1073A>G	NP_001230062.1:p.His358Arg	NC_000001.10:g.247587824A>G	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1121C>A (p.Ala374Asp)	114548	NLRP3	not provided	180177437	RCV000084174;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587872	247587872	NM_001243133.1:c.1121C>A	NP_001230062.1:p.Ala374Asp	NC_000001.10:g.247587872C>A	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1213A>C (p.Thr405Pro)	114548	NLRP3	Pathogenic	180177445	RCV000084175; RCV000221845;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000; MedGen:CN221809	1	247587964	247587964	NM_001243133.1:c.1213A>C	NP_001230062.1:p.Thr405Pro	NC_000001.10:g.247587964A>C	-	C0343068 120100 Familial cold urticaria; CN221809 not provided
NM_001243133.1(NLRP3):c.1218G>C (p.Met406Ile)	114548	NLRP3	not provided	180177486	RCV000084176;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587969	247587969	NM_001243133.1:c.1218G>C	NP_001230062.1:p.Met406Ile	NC_000001.10:g.247587969G>C	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1231C>T (p.Leu411=)	114548	NLRP3	not provided	148478875	RCV000084177;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587982	247587982	NM_001243133.1:c.1231C>T	NP_001230062.1:p.Leu411=	NC_000001.10:g.247587982C>T	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1241G>T (p.Trp414Leu)	114548	NLRP3	not provided	180177496	RCV000084178;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247587992	247587992	NM_001243133.1:c.1241G>T	NP_001230062.1:p.Trp414Leu	NC_000001.10:g.247587992G>T	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1306A>C (p.Thr436Pro)	114548	NLRP3	not provided	180177465	RCV000084179;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588057	247588057	NM_001243133.1:c.1306A>C	NP_001230062.1:p.Thr436Pro	NC_000001.10:g.247588057A>C,NC_000001.10:g.247588057A>G	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1306A>G (p.Thr436Ala)	114548	NLRP3	not provided	180177465	RCV000084180;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588057	247588057	NM_001243133.1:c.1306A>G	NP_001230062.1:p.Thr436Ala	NC_000001.10:g.247588057A>C,NC_000001.10:g.247588057A>G	-	C0343068 120100 Familial cold urticaria
NM_004895.4(NLRP3):c.1312_1314delACC (p.Thr440del)	114548	NLRP3	not provided	180177492	RCV000084181;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588057	247588059	NM_004895.4:c.1312_1314delACC	NP_004886.3:p.Thr440del	NC_000001.10:g.247588057_247588059delACC	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1307C>A (p.Thr436Asn)	114548	NLRP3	not provided	180177433	RCV000084182;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588058	247588058	NM_001243133.1:c.1307C>A	NP_001230062.1:p.Thr436Asn	NC_000001.10:g.247588058C>A,NC_000001.10:g.247588058C>T	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1307C>T (p.Thr436Ile)	114548	NLRP3	not provided	180177433	RCV000084183;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588058	247588058	NM_001243133.1:c.1307C>T	NP_001230062.1:p.Thr436Ile	NC_000001.10:g.247588058C>A,NC_000001.10:g.247588058C>T	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1315G>A (p.Ala439Thr)	114548	NLRP3	not provided	180177430	RCV000084184;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588066	247588066	NM_001243133.1:c.1315G>A	NP_001230062.1:p.Ala439Thr	NC_000001.10:g.247588066G>A,NC_000001.10:g.247588066G>C	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1315G>C (p.Ala439Pro)	114548	NLRP3	not provided	180177430	RCV000084185;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588066	247588066	NM_001243133.1:c.1315G>C	NP_001230062.1:p.Ala439Pro	NC_000001.10:g.247588066G>A,NC_000001.10:g.247588066G>C	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1316C>T (p.Ala439Val)	114548	NLRP3	Pathogenic	121908146	RCV000004618; RCV000214900;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000; MedGen:CN221809	1	247588067	247588067	NM_001243133.1:c.1316C>T	NP_001230062.1:p.Ala439Val	NC_000001.10:g.247588067C>T	OMIM Allelic Variant:606416.0001	C0343068 120100 Familial cold urticaria; CN221809 not provided
NM_001243133.1(NLRP3):c.1321T>C (p.Tyr441His)	114548	NLRP3	not provided	180177499	RCV000084186;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588072	247588072	NM_001243133.1:c.1321T>C	NP_001230062.1:p.Tyr441His	NC_000001.10:g.247588072T>C	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1329C>G (p.Phe443Leu)	114548	NLRP3	not provided	180177477	RCV000084187;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588080	247588080	NM_001243133.1:c.1329C>G	NP_001230062.1:p.Phe443Leu	NC_000001.10:g.247588080C>G	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1374C>T (p.His458=)	114548	NLRP3	not provided	180177481	RCV000084188;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588125	247588125	NM_001243133.1:c.1374C>T	NP_001230062.1:p.His458=	NC_000001.10:g.247588125C>T	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1383C>T (p.Cys461=)	114548	NLRP3	not provided	104895398	RCV000084189;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588134	247588134	NM_001243133.1:c.1383C>T	NP_001230062.1:p.Cys461=	NC_000001.10:g.247588134C>T	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1389C>T (p.His463=)	114548	NLRP3	not provided	111400208	RCV000084190;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588140	247588140	NM_001243133.1:c.1389C>T	NP_001230062.1:p.His463=	NC_000001.10:g.247588140C>T	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1431C>A (p.Asn477Lys)	114548	NLRP3	not provided	180177485	RCV000084191;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588182	247588182	NM_001243133.1:c.1431C>A	NP_001230062.1:p.Asn477Lys	NC_000001.10:g.247588182C>A	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1438A>T (p.Ile480Phe)	114548	NLRP3	not provided	180177482	RCV000084192;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588189	247588189	NM_001243133.1:c.1438A>T	NP_001230062.1:p.Ile480Phe	NC_000001.10:g.247588189A>T	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1463G>A (p.Arg488Lys)	114548	NLRP3	Likely pathogenic	145268073	RCV000084193; RCV000223458;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000; MedGen:CN221809	1	247588214	247588214	NM_001243133.1:c.1463G>A	NP_001230062.1:p.Arg488Lys	NC_000001.10:g.247588214G>A	-	C0343068 120100 Familial cold urticaria; CN221809 not provided
NM_001243133.1(NLRP3):c.1484C>T (p.Ala495Val)	114548	NLRP3	not provided	180177474	RCV000084194;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588235	247588235	NM_001243133.1:c.1484C>T	NP_001230062.1:p.Ala495Val	NC_000001.10:g.247588235C>T	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1568T>G (p.Phe523Cys)	114548	NLRP3	not provided	180177478	RCV000084195;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588319	247588319	NM_001243133.1:c.1568T>G	NP_001230062.1:p.Phe523Cys	NC_000001.10:g.247588319T>G	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1569C>A (p.Phe523Leu)	114548	NLRP3	not provided	180177439	RCV000084196;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588320	247588320	NM_001243133.1:c.1569C>A	NP_001230062.1:p.Phe523Leu	NC_000001.10:g.247588320C>A,NC_000001.10:g.247588320C>G	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1569C>G (p.Phe523Leu)	114548	NLRP3	not provided	180177439	RCV000084197;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588320	247588320	NM_001243133.1:c.1569C>G	NP_001230062.1:p.Phe523Leu	NC_000001.10:g.247588320C>A,NC_000001.10:g.247588320C>G	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1573G>A (p.Glu525Lys)	114548	NLRP3	not provided	180177458	RCV000084198;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588324	247588324	NM_001243133.1:c.1573G>A	NP_001230062.1:p.Glu525Lys	NC_000001.10:g.247588324G>A	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1600C>T (p.Leu534=)	114548	NLRP3	not provided	116054301	RCV000084199;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588351	247588351	NM_001243133.1:c.1600C>T	NP_001230062.1:p.Leu534=	NC_000001.10:g.247588351C>T	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1660C>T (p.Arg554Ter)	114548	NLRP3	not provided	180177460	RCV000084200;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588411	247588411	NM_001243133.1:c.1660C>T	NP_001230062.1:p.Arg554Ter	NC_000001.10:g.247588411C>T	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1669A>G (p.Thr557Ala)	114548	NLRP3	not provided	180177461	RCV000084201;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588420	247588420	NM_001243133.1:c.1669A>G	NP_001230062.1:p.Thr557Ala	NC_000001.10:g.247588420A>G	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1687T>A (p.Tyr563Asn)	114548	NLRP3	not provided	180177479	RCV000084202;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588438	247588438	NM_001243133.1:c.1687T>A	NP_001230062.1:p.Tyr563Asn	NC_000001.10:g.247588438T>A	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1699G>A (p.Glu567Lys)	114548	NLRP3	not provided	104895389	RCV000084203;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588450	247588450	NM_001243133.1:c.1699G>A	NP_001230062.1:p.Glu567Lys	NC_000001.10:g.247588450G>A	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1705G>C (p.Gly569Arg)	114548	NLRP3	Pathogenic	121908151	RCV000084204; RCV000004624;	N	MedGen:C0268390,OMIM:191900,ORPHA:575,SNOMED CT:15123008; MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588456	247588456	NM_001243133.1:c.1705G>C	NP_001230062.1:p.Gly569Arg	NC_000001.10:g.247588456G>C	OMIM Allelic Variant:606416.0006	C0268390 191900 Familial amyloid nephropathy with urticaria AND deafness; C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1706G>C (p.Gly569Ala)	114548	NLRP3	not provided	180177491	RCV000084205;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588457	247588457	NM_001243133.1:c.1706G>C	NP_001230062.1:p.Gly569Ala	NC_000001.10:g.247588457G>C	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1709A>G (p.Tyr570Cys)	114548	NLRP3	not provided	180177438	RCV000084206;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588460	247588460	NM_001243133.1:c.1709A>G	NP_001230062.1:p.Tyr570Cys	NC_000001.10:g.247588460A>G,NC_000001.10:g.247588460A>T	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1709A>T (p.Tyr570Phe)	114548	NLRP3	not provided	180177438	RCV000084207;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588460	247588460	NM_001243133.1:c.1709A>T	NP_001230062.1:p.Tyr570Phe	NC_000001.10:g.247588460A>G,NC_000001.10:g.247588460A>T	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1713G>T (p.Leu571Phe)	114548	NLRP3	not provided	180177489	RCV000084208;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588464	247588464	NM_001243133.1:c.1713G>T	NP_001230062.1:p.Leu571Phe	NC_000001.10:g.247588464G>T	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1714A>T (p.Ile572Phe)	114548	NLRP3	not provided	180177490	RCV000084209;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588465	247588465	NM_001243133.1:c.1714A>T	NP_001230062.1:p.Ile572Phe	NC_000001.10:g.247588465A>T	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1718T>C (p.Phe573Ser)	114548	NLRP3	Pathogenic	121908152	RCV000084210; RCV000004625;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000; MedGen:C0409818,OMIM:607115,ORPHA:1451,SNOMED CT:239826001	1	247588469	247588469	NM_001243133.1:c.1718T>C	NP_001230062.1:p.Phe573Ser	NC_000001.10:g.247588469T>C	OMIM Allelic Variant:606416.0007	C0409818 607115 Chronic infantile neurological, cutaneous and articular syndrome; C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1760C>T (p.Thr587Ile)	114548	NLRP3	not provided	180177467	RCV000084211;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588511	247588511	NM_001243133.1:c.1760C>T	NP_001230062.1:p.Thr587Ile	NC_000001.10:g.247588511C>T	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1880A>G (p.Glu627Gly)	114548	NLRP3	Pathogenic	121908148	RCV000004620;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588631	247588631	NM_001243133.1:c.1880A>G	NP_001230062.1:p.Glu627Gly	NC_000001.10:g.247588631A>G	OMIM Allelic Variant:606416.0003	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1896G>T (p.Leu632Phe)	114548	NLRP3	not provided	180177446	RCV000084212;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588647	247588647	NM_001243133.1:c.1896G>T	NP_001230062.1:p.Leu632Phe	NC_000001.10:g.247588647G>T	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1976T>A (p.Met659Lys)	114548	NLRP3	not provided	180177457	RCV000084213;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588727	247588727	NM_001243133.1:c.1976T>A	NP_001230062.1:p.Met659Lys	NC_000001.10:g.247588727T>A	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.1985T>C (p.Met662Thr)	114548	NLRP3	not provided	180177435	RCV000084214;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588736	247588736	NM_001243133.1:c.1985T>C	NP_001230062.1:p.Met662Thr	NC_000001.10:g.247588736T>C	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.2062G>A (p.Glu688Lys)	114548	NLRP3	not provided	104895414	RCV000084215;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588813	247588813	NM_001243133.1:c.2062G>A	NP_001230062.1:p.Glu688Lys	NC_000001.10:g.247588813G>A	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.2068G>A (p.Glu690Lys)	114548	NLRP3	not provided	180177495	RCV000084216;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588819	247588819	NM_001243133.1:c.2068G>A	NP_001230062.1:p.Glu690Lys	NC_000001.10:g.247588819G>A	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.2102T>C (p.Met701Thr)	114548	NLRP3	not provided	180177497	RCV000084217;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588853	247588853	NM_001243133.1:c.2102T>C	NP_001230062.1:p.Met701Thr	NC_000001.10:g.247588853T>C	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.2129C>G (p.Ser710Cys)	114548	NLRP3	not provided	180177454	RCV000084218;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247588880	247588880	NM_001243133.1:c.2129C>G	NP_001230062.1:p.Ser710Cys	NC_000001.10:g.247588880C>G	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.2263G>C (p.Gly755Arg)	114548	NLRP3	not provided	180177469	RCV000084219;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247592999	247592999	NM_001243133.1:c.2263G>C	NP_001230062.1:p.Gly755Arg	NC_000001.10:g.247592999G>C	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.2264G>C (p.Gly755Ala)	114548	NLRP3	not provided	180177473	RCV000084220;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000	1	247593000	247593000	NM_001243133.1:c.2264G>C	NP_001230062.1:p.Gly755Ala	NC_000001.10:g.247593000G>C	-	C0343068 120100 Familial cold urticaria
NM_001243133.1(NLRP3):c.2576A>G (p.Tyr859Cys)	114548	NLRP3	Pathogenic	180177452	RCV000084221; RCV000216746;	N	MedGen:C0343068,OMIM:120100,ORPHA:47045,SNOMED CT:238687000; MedGen:CN221809	1	247599355	247599355	NM_001243133.1:c.2576A>G	NP_001230062.1:p.Tyr859Cys	NC_000001.10:g.247599355A>G	-	C0343068 120100 Familial cold urticaria; CN221809 not provided