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Gene: NLRC4 (NLR family CARD domain containing 4) Homo sapiens

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Symbol:

NLRC4

Name:

NLR family CARD domain containing 4

RGD ID:

1320383

HGNC Page

HGNC:16412

Description:

Enables several functions, including ATP binding activity; caspase binding activity; and protein homodimerization activity. Involved in positive regulation of apoptotic process; regulation of gene expression; and response to bacterium. Located in cytosol; intracellular membrane-bounded organelle; and plasma membrane. Implicated in familial cold autoinflammatory syndrome 4.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

AIFEC; CARD, LRR, and NACHT-containing protein; CARD12; caspase recruitment domain family, member 12; caspase recruitment domain-containing protein 12; CED-4-like protein Clan; CLAN; CLAN1; CLANA; CLANB; CLANC; CLAND; CLR2.1; FCAS4; ice protease-activating factor; ICE-protease activating factor; IPAF; NLR family CARD domain-containing protein 4; NLR family, CARD domain containing 4; NOD-like receptor C4; nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	2	32,224,449 - 32,265,743 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	32,224,453 - 32,265,732 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	32,449,518 - 32,490,812 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	32,303,022 - 32,344,305 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	2	32,361,170 - 32,402,452	NCBI
Celera	2	32,294,338 - 32,335,591 (-)	NCBI		Celera
Cytogenetic Map	2	p22.3	NCBI
HuRef	2	32,188,707 - 32,229,921 (-)	NCBI		HuRef
CHM1_1	2	32,379,411 - 32,420,670 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	2	32,272,955 - 32,314,278 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NLRC4	Human	Autoinflammation with Infantile Enterocolitis		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis	ClinVar	PMID:28492532
NLRC4	Human	Autoinflammation with Infantile Enterocolitis		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis	ClinVar	PMID:28492532
NLRC4	Human	Autoinflammation with Infantile Enterocolitis		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis	ClinVar	PMID:16199547 and PMID:28492532
NLRC4	Human	Autoinflammation with Infantile Enterocolitis		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis	ClinVar	PMID:28492532
NLRC4	Human	Autoinflammation with Infantile Enterocolitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis	ClinVar	PMID:27203668 more ...
NLRC4	Human	Autoinflammation with Infantile Enterocolitis		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis	ClinVar	PMID:25741868 and PMID:28492532
NLRC4	Human	Autoinflammation with Infantile Enterocolitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis	ClinVar	PMID:25741868
NLRC4	Human	Autoinflammation with Infantile Enterocolitis		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis	ClinVar	PMID:28492532
NLRC4	Human	Autoinflammation with Infantile Enterocolitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis	ClinVar	PMID:25741868 more ...
NLRC4	Human	Autoinflammation with Infantile Enterocolitis		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis	ClinVar	PMID:24033266 more ...
NLRC4	Human	Autoinflammation with Infantile Enterocolitis		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis	ClinVar	PMID:17576681 more ...
NLRC4	Human	Autoinflammation with Infantile Enterocolitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis	ClinVar	PMID:19763152 more ...
NLRC4	Human	Autoinflammation with Infantile Enterocolitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis	ClinVar	PMID:25741868 more ...
NLRC4	Human	Autoinflammation with Infantile Enterocolitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis	ClinVar	PMID:28492532 and PMID:34248956
NLRC4	Human	Autoinflammation with Infantile Enterocolitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4)	ClinVar	PMID:25217960 more ...
NLRC4	Human	Autoinflammation with Infantile Enterocolitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis	ClinVar	PMID:28492532 and PMID:33822359
NLRC4	Human	Autoinflammation with Infantile Enterocolitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis	ClinVar	PMID:25217959 more ...
NLRC4	Human	Autoinflammation with Infantile Enterocolitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis	ClinVar	PMID:25741868 more ...
NLRC4	Human	Autoinflammation with Infantile Enterocolitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis	ClinVar	PMID:25217959 more ...
NLRC4	Human	Autoinflammation with Infantile Enterocolitis		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis	ClinVar
NLRC4	Human	Autoinflammation with Infantile Enterocolitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis	ClinVar	PMID:25385754 more ...
NLRC4	Human	Autoinflammation with Infantile Enterocolitis		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis	ClinVar	PMID:25217960 more ...
NLRC4	Human	Autoinflammation with Infantile Enterocolitis		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Autoinflammation with infantile enterocolitis	ClinVar	PMID:28492532
NLRC4	Human	Chediak-Higashi syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Chédiak-Higashi syndrome	ClinVar	PMID:24033266 more ...
NLRC4	Human	Chediak-Higashi syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Autoinflammatory syndrome	ClinVar	PMID:25741868
NLRC4	Human	Chediak-Higashi syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:25741868 and PMID:28492532
NLRC4	Human	Chediak-Higashi syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autoinflammatory syndrome	ClinVar	PMID:25741868 more ...
NLRC4	Human	Chediak-Higashi syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:25741868 and PMID:28492532
NLRC4	Human	Chediak-Higashi syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Autoinflammatory syndrome	ClinVar	PMID:25741868
NLRC4	Human	familial cold autoinflammatory syndrome 4		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4	ClinVar	PMID:25741868 and PMID:28492532
NLRC4	Human	familial cold autoinflammatory syndrome 4		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4	ClinVar	PMID:28492532
NLRC4	Human	familial cold autoinflammatory syndrome 4		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4	ClinVar	PMID:16199547 and PMID:28492532
NLRC4	Human	familial cold autoinflammatory syndrome 4		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4	ClinVar	PMID:27203668 more ...
NLRC4	Human	familial cold autoinflammatory syndrome 4		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4	ClinVar	PMID:25741868
NLRC4	Human	familial cold autoinflammatory syndrome 4		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4	ClinVar	PMID:28492532
NLRC4	Human	familial cold autoinflammatory syndrome 4		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4	ClinVar	PMID:28492532
NLRC4	Human	familial cold autoinflammatory syndrome 4		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4	ClinVar	PMID:28492532
NLRC4	Human	familial cold autoinflammatory syndrome 4		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4	ClinVar	PMID:25741868 more ...
NLRC4	Human	familial cold autoinflammatory syndrome 4		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4	ClinVar	PMID:24033266 more ...
NLRC4	Human	familial cold autoinflammatory syndrome 4		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4	ClinVar	PMID:17576681 more ...
NLRC4	Human	familial cold autoinflammatory syndrome 4		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4	ClinVar	PMID:19763152 more ...
NLRC4	Human	familial cold autoinflammatory syndrome 4		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4	ClinVar	PMID:25741868 more ...
NLRC4	Human	familial cold autoinflammatory syndrome 4		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4	ClinVar	PMID:28492532 and PMID:34248956
NLRC4	Human	familial cold autoinflammatory syndrome 4		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4	ClinVar	PMID:25217960 more ...
NLRC4	Human	familial cold autoinflammatory syndrome 4		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4	ClinVar	PMID:25217959 more ...
NLRC4	Human	familial cold autoinflammatory syndrome 4		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4	ClinVar	PMID:25741868 more ...
NLRC4	Human	familial cold autoinflammatory syndrome 4		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4	ClinVar	PMID:28492532 and PMID:33822359
NLRC4	Human	familial cold autoinflammatory syndrome 4		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4	ClinVar
NLRC4	Human	familial cold autoinflammatory syndrome 4		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4	ClinVar	PMID:25385754 more ...
NLRC4	Human	familial cold autoinflammatory syndrome 4		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Familial cold autoinflammatory syndrome 4	ClinVar	PMID:28492532
NLRC4	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 and PMID:28492532
NLRC4	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
NLRC4	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
NLRC4	Human	hereditary spastic paraplegia 4		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hereditary spastic paraplegia 4	ClinVar	PMID:28492532
NLRC4	Human	hereditary spastic paraplegia 4		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Hereditary spastic paraplegia 4	ClinVar	PMID:25065914
NLRC4	Human	hereditary spastic paraplegia 4		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hereditary spastic paraplegia 4	ClinVar	PMID:25741868
NLRC4	Human	paraplegia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Spastic paraplegia	ClinVar
NLRC4	Human	paraplegia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Spastic paraplegia	ClinVar	PMID:32581362

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NLRC4	Human	Cryopyrin-Associated Periodic Syndromes		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD
NLRC4	Human	Enterocolitis		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:25217960
NLRC4	Human	Hereditary Autoinflammatory Diseases		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:25217959 and PMID:25217960
NLRC4	Human	Macrophage Activation Syndrome		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:25217959

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NLRC4	Human	familial cold autoinflammatory syndrome 4		ISS	Nlrc4 (Mus musculus)	13592920	OMIM:616115	MouseDO

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NLRC4	Human	Autoinflammation with Infantile Enterocolitis		IAGP		7240710		OMIM
NLRC4	Human	familial cold autoinflammatory syndrome 4		IAGP		7240710		OMIM

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NLRC4	Human	1,2-dimethylhydrazine	decreases expression	ISO	Nlrc4 (Mus musculus)	6480464	1 and 2-Dimethylhydrazine results in decreased expression of NLRC4 mRNA	CTD	PMID:22206623
NLRC4	Human	1-naphthyl isothiocyanate	increases expression	ISO	Nlrc4 (Rattus norvegicus)	6480464	1-Naphthylisothiocyanate results in increased expression of NLRC4 mRNA	CTD	PMID:30723492
NLRC4	Human	17beta-estradiol	multiple interactions	EXP		6480464	[Estradiol co-treated with TGFB1 protein] results in increased expression of NLRC4 mRNA	CTD	PMID:30165855
NLRC4	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Nlrc4 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin affects the expression of NLRC4 mRNA	CTD	PMID:22298810
NLRC4	Human	4-hydroxynon-2-enal	increases expression	ISO	Nlrc4 (Mus musculus)	6480464	4-hydroxy-2-nonenal results in increased expression of NLRC4 mRNA	CTD	PMID:19191707
NLRC4	Human	acetamide	increases expression	ISO	Nlrc4 (Rattus norvegicus)	6480464	acetamide results in increased expression of NLRC4 mRNA	CTD	PMID:31881176
NLRC4	Human	acrylamide	decreases expression	ISO	Nlrc4 (Rattus norvegicus)	6480464	Acrylamide results in decreased expression of NLRC4 mRNA	CTD	PMID:28959563
NLRC4	Human	acrylamide	increases expression	EXP		6480464	Acrylamide results in increased expression of NLRC4 mRNA	CTD	PMID:32763439
NLRC4	Human	aflatoxin B1	increases methylation	EXP		6480464	Aflatoxin B1 results in increased methylation of NLRC4 gene	CTD	PMID:27153756
NLRC4	Human	Aflatoxin B2 alpha	increases methylation	EXP		6480464	aflatoxin B2 results in increased methylation of NLRC4 intron	CTD	PMID:30157460
NLRC4	Human	all-trans-retinoic acid	increases expression	EXP		6480464	Tretinoin results in increased expression of NLRC4 mRNA	CTD	PMID:33167477
NLRC4	Human	antirheumatic drug	decreases expression	EXP		6480464	Antirheumatic Agents results in decreased expression of NLRC4 mRNA	CTD	PMID:24449571
NLRC4	Human	aristolochic acid A	increases expression	EXP		6480464	aristolochic acid I results in increased expression of NLRC4 mRNA	CTD	PMID:33212167
NLRC4	Human	arsane	affects methylation	EXP		6480464	Arsenic affects the methylation of NLRC4 gene	CTD	PMID:25304211
NLRC4	Human	arsenic atom	affects methylation	EXP		6480464	Arsenic affects the methylation of NLRC4 gene	CTD	PMID:25304211
NLRC4	Human	arsenous acid	decreases expression	EXP		6480464	Arsenic Trioxide results in decreased expression of NLRC4 protein	CTD	PMID:35226250
NLRC4	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of NLRC4 intron	CTD	PMID:30157460
NLRC4	Human	benzo[e]pyrene	increases methylation	EXP		6480464	benzo(e)pyrene results in increased methylation of NLRC4 intron	CTD	PMID:30157460
NLRC4	Human	bisphenol A	decreases expression	ISO	Nlrc4 (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of NLRC4 mRNA	CTD	PMID:30816183 more ...
NLRC4	Human	bisphenol A	decreases methylation	EXP		6480464	bisphenol A results in decreased methylation of NLRC4 gene	CTD	PMID:31601247
NLRC4	Human	cadmium dichloride	increases expression	EXP		6480464	Cadmium Chloride results in increased expression of NLRC4 mRNA	CTD	PMID:38568856
NLRC4	Human	cadmium selenide	multiple interactions	EXP		6480464	[cadmium selenide co-treated with zinc sulfide] results in increased expression of NLRC4 mRNA	CTD	PMID:22342292
NLRC4	Human	CGP 52608	multiple interactions	EXP		6480464	CGP 52608 promotes the reaction [RORA protein binds to NLRC4 gene]	CTD	PMID:28238834
NLRC4	Human	cisplatin	multiple interactions	EXP		6480464	[Cisplatin co-treated with jinfukang] results in decreased expression of NLRC4 mRNA	CTD	PMID:27392435
NLRC4	Human	copper atom	multiple interactions	EXP		6480464	[NSC 689534 binds to Copper] which results in increased expression of NLRC4 mRNA	CTD	PMID:20971185
NLRC4	Human	copper(0)	multiple interactions	EXP		6480464	[NSC 689534 binds to Copper] which results in increased expression of NLRC4 mRNA	CTD	PMID:20971185
NLRC4	Human	corn oil	increases expression	ISO	Nlrc4 (Mus musculus)	6480464	Corn Oil results in increased expression of NLRC4 mRNA	CTD	PMID:33263755
NLRC4	Human	Cuprizon	increases expression	ISO	Nlrc4 (Rattus norvegicus)	6480464	Cuprizone results in increased expression of NLRC4 mRNA	CTD	PMID:27523638
NLRC4	Human	cyclosporin A	increases expression	EXP		6480464	Cyclosporine results in increased expression of NLRC4 mRNA	CTD	PMID:25562108
NLRC4	Human	diarsenic trioxide	decreases expression	EXP		6480464	Arsenic Trioxide results in decreased expression of NLRC4 protein	CTD	PMID:35226250
NLRC4	Human	diquat	decreases expression	ISO	Nlrc4 (Mus musculus)	6480464	Diquat results in decreased expression of NLRC4 mRNA	CTD	PMID:36851058
NLRC4	Human	endosulfan	decreases expression	ISO	Nlrc4 (Rattus norvegicus)	6480464	Endosulfan results in decreased expression of NLRC4 mRNA	CTD	PMID:29391264
NLRC4	Human	indole-3-methanol	affects expression	ISO	Nlrc4 (Rattus norvegicus)	6480464	indole-3-carbinol affects the expression of NLRC4 mRNA	CTD	PMID:21396975
NLRC4	Human	iron atom	increases expression	EXP		6480464	Iron deficiency results in increased expression of NLRC4 mRNA	CTD	PMID:20368581
NLRC4	Human	iron(0)	increases expression	EXP		6480464	Iron deficiency results in increased expression of NLRC4 mRNA	CTD	PMID:20368581
NLRC4	Human	lipopolysaccharide	increases expression	ISO	Nlrc4 (Mus musculus)	6480464	Lipopolysaccharides results in increased expression of NLRC4 mRNA	CTD	PMID:22147977
NLRC4	Human	lipopolysaccharide	decreases expression	EXP		6480464	Lipopolysaccharides results in decreased expression of NLRC4 mRNA	CTD	PMID:35811015
NLRC4	Human	lipopolysaccharide	multiple interactions	EXP		6480464	[S-(1 more ...	CTD	PMID:35811015
NLRC4	Human	methapyrilene	increases methylation	EXP		6480464	Methapyrilene results in increased methylation of NLRC4 intron	CTD	PMID:30157460
NLRC4	Human	N,N-diethyl-m-toluamide	multiple interactions	ISO	Nlrc4 (Rattus norvegicus)	6480464	[Permethrin co-treated with DEET] results in increased methylation of NLRC4 gene	CTD	PMID:33148267
NLRC4	Human	nickel atom	decreases expression	EXP		6480464	Nickel results in decreased expression of NLRC4 mRNA	CTD	PMID:23195993
NLRC4	Human	nickel atom	increases expression	EXP		6480464	Nickel results in increased expression of NLRC4 mRNA	CTD	PMID:25583101
NLRC4	Human	nickel dichloride	affects expression	ISO	Nlrc4 (Rattus norvegicus)	6480464	nickel chloride affects the expression of NLRC4 mRNA	CTD	PMID:22546817
NLRC4	Human	orphenadrine	affects expression	ISO	Nlrc4 (Rattus norvegicus)	6480464	Orphenadrine affects the expression of NLRC4 mRNA	CTD	PMID:23665939
NLRC4	Human	ozone	multiple interactions	ISO	Nlrc4 (Mus musculus)	6480464	[Air Pollutants results in increased abundance of [Ozone co-treated with Soot]] which results in decreased expression of NLRC4 mRNA	CTD	PMID:34911549
NLRC4	Human	p-menthan-3-ol	decreases expression	EXP		6480464	Menthol results in decreased expression of NLRC4 mRNA	CTD	PMID:26760959
NLRC4	Human	permethrin	multiple interactions	ISO	Nlrc4 (Rattus norvegicus)	6480464	[Permethrin co-treated with DEET] results in increased methylation of NLRC4 gene	CTD	PMID:33148267
NLRC4	Human	S-(1,2-dichlorovinyl)-L-cysteine	multiple interactions	EXP		6480464	[S-(1 more ...	CTD	PMID:35811015
NLRC4	Human	silver atom	affects expression	EXP		6480464	Silver affects the expression of NLRC4 mRNA	CTD	PMID:22342292
NLRC4	Human	silver(0)	affects expression	EXP		6480464	Silver affects the expression of NLRC4 mRNA	CTD	PMID:22342292
NLRC4	Human	sodium arsenite	decreases expression	ISO	Nlrc4 (Mus musculus)	6480464	sodium arsenite results in decreased expression of NLRC4 mRNA	CTD	PMID:31233874
NLRC4	Human	sodium arsenite	decreases expression	EXP		6480464	sodium arsenite results in decreased expression of NLRC4 mRNA	CTD	PMID:34032870
NLRC4	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of NLRC4 mRNA	CTD	PMID:38568856
NLRC4	Human	succimer	multiple interactions	EXP		6480464	[Succimer co-treated with Magnetite Nanoparticles] results in increased expression of NLRC4 mRNA	CTD	PMID:26378955
NLRC4	Human	thioacetamide	increases expression	ISO	Nlrc4 (Rattus norvegicus)	6480464	Thioacetamide results in increased expression of NLRC4 mRNA	CTD	PMID:34492290
NLRC4	Human	titanium dioxide	decreases expression	EXP		6480464	titanium dioxide results in decreased expression of NLRC4 mRNA	CTD	PMID:22342292
NLRC4	Human	trichloroethene	decreases expression	ISO	Nlrc4 (Rattus norvegicus)	6480464	Trichloroethylene results in decreased expression of NLRC4 mRNA	CTD	PMID:33387578
NLRC4	Human	triptonide	increases expression	ISO	Nlrc4 (Mus musculus)	6480464	triptonide results in increased expression of NLRC4 mRNA	CTD	PMID:33045310

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NLRC4	Human	activation of innate immune response	involved_in	ISS	UniProtKB:Q3UP24	150520179		UniProt	GO_REF:0000024
NLRC4	Human	activation of innate immune response	involved_in	IEA	UniProtKB:Q3UP24 and ensembl:ENSMUSP00000059637	150520179		Ensembl	GO_REF:0000107
NLRC4	Human	apoptotic process	involved_in	IEA	UniProtKB-KW:KW-0053	150520179		UniProt	GO_REF:0000043
NLRC4	Human	defense response to bacterium	involved_in	IDA		150520179	PMID:15107016	HGNC-UCL	PMID:15107016
NLRC4	Human	defense response to bacterium	involved_in	IBA	MGI:3036243 more ...	150520179		GO_Central	GO_REF:0000033
NLRC4	Human	defense response to bacterium	involved_in	IEA	UniProtKB:Q3UP24 and ensembl:ENSMUSP00000059637	150520179		Ensembl	GO_REF:0000107
NLRC4	Human	detection of bacterium	involved_in	IDA		150520179	PMID:15107016	HGNC-UCL	PMID:15107016
NLRC4	Human	detection of bacterium	involved_in	IEA	UniProtKB:Q3UP24 and ensembl:ENSMUSP00000059637	150520179		Ensembl	GO_REF:0000107
NLRC4	Human	detection of bacterium	involved_in	IBA	MGI:3036243 more ...	150520179		GO_Central	GO_REF:0000033
NLRC4	Human	icosanoid biosynthetic process	involved_in	NAS		150520179	PMID:22902502	ComplexPortal	PMID:22902502
NLRC4	Human	immune system process	involved_in	IEA	UniProtKB-KW:KW-0391	150520179		UniProt	GO_REF:0000043
NLRC4	Human	inflammatory response	involved_in	ISS	UniProtKB:Q3UP24	150520179		UniProt	GO_REF:0000024
NLRC4	Human	inflammatory response	acts_upstream_of_or_within	IEA	UniProtKB:Q3UP24 and ensembl:ENSMUSP00000059637	150520179		Ensembl	GO_REF:0000107
NLRC4	Human	inflammatory response	involved_in	IEA	UniProtKB-KW:KW-0395	150520179		UniProt	GO_REF:0000043
NLRC4	Human	innate immune response	involved_in	IEA	UniProtKB-KW:KW-0399	150520179		UniProt	GO_REF:0000043
NLRC4	Human	pattern recognition receptor signaling pathway	involved_in	NAS		150520179	PMID:21918512	ComplexPortal	PMID:21918512
NLRC4	Human	positive regulation of apoptotic process	involved_in	IDA		150520179	PMID:12646168	UniProt	PMID:12646168
NLRC4	Human	positive regulation of inflammatory response	involved_in	NAS		150520179	PMID:21918512	ComplexPortal	PMID:21918512
NLRC4	Human	positive regulation of interleukin-1 beta production	involved_in	IGI	UniProtKB:P10749 and UniProtKB:P29466	150520179	PMID:15882992	HGNC-UCL	PMID:15882992
NLRC4	Human	positive regulation of interleukin-1 beta production	involved_in	IEA	UniProtKB:Q3UP24 and ensembl:ENSMUSP00000059637	150520179		Ensembl	GO_REF:0000107
NLRC4	Human	positive regulation of interleukin-1 beta production	involved_in	NAS		150520179	PMID:21918512	ComplexPortal	PMID:21918512
NLRC4	Human	positive regulation of NF-kappaB transcription factor activity	involved_in	IDA		150520179	PMID:12646168	UniProt	PMID:12646168
NLRC4	Human	positive regulation of protein processing	involved_in	IGI	UniProtKB:P10749 and UniProtKB:P29466	150520179	PMID:15882992	ARUK-UCL	PMID:15882992
NLRC4	Human	protein homooligomerization	involved_in	IEA	UniProtKB:Q3UP24 and ensembl:ENSMUSP00000059637	150520179		Ensembl	GO_REF:0000107
NLRC4	Human	protein homooligomerization	involved_in	ISS	UniProtKB:Q3UP24	150520179		UniProt	GO_REF:0000024
NLRC4	Human	pyroptotic inflammatory response	involved_in	ISS	UniProtKB:Q3UP24	150520179		UniProt	GO_REF:0000024
NLRC4	Human	pyroptotic inflammatory response	involved_in	IEA	UniProtKB:Q3UP24 and ensembl:ENSMUSP00000059637	150520179		Ensembl	GO_REF:0000107
NLRC4	Human	pyroptotic inflammatory response	involved_in	NAS		150520179	PMID:26121197	ComplexPortal	PMID:26121197
NLRC4	Human	regulation of apoptotic process	involved_in	IEA	InterPro:IPR001315	150520179		InterPro	GO_REF:0000002
NLRC4	Human	regulation of apoptotic process	acts_upstream_of_or_within	IEA	UniProtKB:Q3UP24 and ensembl:ENSMUSP00000059637	150520179		Ensembl	GO_REF:0000107

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NLRC4	Human	canonical inflammasome complex	part_of	NAS		150520179	PMID:25879286	ComplexPortal	PMID:25879286
NLRC4	Human	canonical inflammasome complex	part_of	IEA	UniProtKB-KW:KW-1271	150520179		UniProt	GO_REF:0000043
NLRC4	Human	canonical inflammasome complex	part_of	IEA	UniProtKB-SubCell:SL-0488	150520179		UniProt	GO_REF:0000044
NLRC4	Human	cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0086	150520179		UniProt	GO_REF:0000044
NLRC4	Human	cytoplasm	located_in	NAS		150520179	PMID:24803432	ComplexPortal	PMID:24803432
NLRC4	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
NLRC4	Human	cytosol	located_in	TAS		150520179		Reactome	Reactome:R-HSA-6801415 and Reactome:R-HSA-844617
NLRC4	Human	cytosol	located_in	IEA	UniProtKB:Q3UP24 and ensembl:ENSMUSP00000059637	150520179		Ensembl	GO_REF:0000107
NLRC4	Human	cytosol	located_in	IEA	UniProtKB-SubCell:SL-0091	150520179		UniProt	GO_REF:0000044
NLRC4	Human	cytosol	located_in	IDA		150520179		HPA	GO_REF:0000052
NLRC4	Human	cytosol	located_in	ISS	UniProtKB:Q3UP24	150520179		UniProt	GO_REF:0000024
NLRC4	Human	intracellular membrane-bounded organelle	located_in	IDA		150520179		HPA	GO_REF:0000052
NLRC4	Human	IPAF inflammasome complex	part_of	IEA	UniProtKB:Q3UP24 and ensembl:ENSMUSP00000059637	150520179		Ensembl	GO_REF:0000107
NLRC4	Human	IPAF inflammasome complex	part_of	ISS	UniProtKB:Q3UP24	150520179		UniProt	GO_REF:0000024
NLRC4	Human	plasma membrane	located_in	IDA		150520179		HPA	GO_REF:0000052

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NLRC4	Human	ATP binding	enables	IDA		150520179	PMID:15882992	HGNC-UCL	PMID:15882992
NLRC4	Human	ATP binding	enables	IEA	UniProtKB-KW:KW-0067	150520179		UniProt	GO_REF:0000043
NLRC4	Human	caspase binding	enables	IPI	UniProtKB:P29466	150520179	PMID:15882992	ARUK-UCL	PMID:15882992
NLRC4	Human	endopeptidase activator activity	enables	IGI	UniProtKB:P10749 and UniProtKB:P29466	150520179	PMID:15882992	ARUK-UCL	PMID:15882992
NLRC4	Human	identical protein binding	enables	IPI	UniProtKB:Q9NPP4	150520179	PMID:11374873 more ...	IntAct	PMID:11374873 more ...
NLRC4	Human	identical protein binding	enables	IEA	UniProtKB:Q3UP24 and ensembl:ENSMUSP00000059637	150520179		Ensembl	GO_REF:0000107
NLRC4	Human	magnesium ion binding	enables	TAS		150520179	PMID:15882992	HGNC-UCL	PMID:15882992
NLRC4	Human	nucleotide binding	enables	IEA	UniProtKB-KW:KW-0547	150520179		UniProt	GO_REF:0000043
NLRC4	Human	protein binding	enables	IPI	UniProtKB:Q48824	150520179	PMID:21918512	IntAct	PMID:21918512
NLRC4	Human	protein binding	enables	IPI	UniProtKB:P29466	150520179	PMID:11374873 more ...	IntAct	PMID:11374873 more ...
NLRC4	Human	protein binding	enables	IPI	UniProtKB:O95999 more ...	150520179	PMID:11472070	UniProt	PMID:11472070
NLRC4	Human	protein binding	enables	IPI	UniProtKB:P29466 more ...	150520179	PMID:15107016	HGNC-UCL	PMID:15107016
NLRC4	Human	protein binding	enables	IPI	UniProtKB:P19525	150520179	PMID:22801494	UniProt	PMID:22801494
NLRC4	Human	protein homodimerization activity	enables	IDA		150520179	PMID:15107016	HGNC-UCL	PMID:15107016

Imported Annotations - KEGG (archival)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NLRC4	Human	NOD-like receptor signaling pathway		IEA		6907045		KEGG	hsa:04621

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NLRC4	Human	Anemia		IAGP		8699517		HPO	MIM:616050
NLRC4	Human	Arthralgia		IAGP		8699517		HPO	MIM:616115
NLRC4	Human	Arthralgia		IAGP		8699517		HPO	MIM:616050
NLRC4	Human	Autosomal dominant inheritance		IAGP		8699517		HPO	MIM:616115
NLRC4	Human	Autosomal dominant inheritance		IAGP		8699517		HPO	MIM:616050
NLRC4	Human	Diffuse alveolar hemorrhage		IAGP		8699517		HPO	MIM:616050
NLRC4	Human	Disseminated intravascular coagulation		IAGP		8699517		HPO	MIM:616050
NLRC4	Human	Elevated circulating C-reactive protein concentration		IAGP		8699517		HPO	MIM:616050
NLRC4	Human	Enterocolitis		IAGP		8699517		HPO	MIM:616050
NLRC4	Human	Episodic vomiting		IAGP		8699517		HPO	MIM:616050
NLRC4	Human	Failure to thrive		IAGP		8699517		HPO	MIM:616050
NLRC4	Human	Fatigue		IAGP		8699517		HPO	MIM:616050
NLRC4	Human	Feeding difficulties in infancy		IAGP		8699517		HPO	MIM:616050
NLRC4	Human	Fever		IAGP		8699517		HPO	MIM:616115
NLRC4	Human	Fever		IAGP		8699517		HPO	MIM:616050
NLRC4	Human	Hypoalbuminemia		IAGP		8699517		HPO	MIM:616050
NLRC4	Human	Hypofibrinogenemia		IAGP		8699517		HPO	MIM:616050
NLRC4	Human	Increased circulating ferritin concentration		IAGP		8699517		HPO	MIM:616050
NLRC4	Human	Infantile onset		IAGP		8699517		HPO	MIM:616115
NLRC4	Human	Meningitis		IAGP		8699517		HPO	MIM:616050
NLRC4	Human	Myalgia		IAGP		8699517		HPO	MIM:616050
NLRC4	Human	Neonatal onset		IAGP		8699517		HPO	MIM:616050
NLRC4	Human	Pancytopenia		IAGP		8699517		HPO	MIM:616050
NLRC4	Human	Recurrent fever		IAGP		8699517		HPO	MIM:616050
NLRC4	Human	Reduced natural killer cell activity		IAGP		8699517		HPO	MIM:616050
NLRC4	Human	Reduced natural killer cell count		IAGP		8699517		HPO	MIM:616050
NLRC4	Human	Secretory diarrhea		IAGP		8699517		HPO	MIM:616050
NLRC4	Human	Short stature		IAGP		8699517		HPO	MIM:616050
NLRC4	Human	Skin rash		IAGP		8699517		HPO	MIM:616050
NLRC4	Human	Splenomegaly		IAGP		8699517		HPO	MIM:616050
NLRC4	Human	Thrombocytopenia		IAGP		8699517		HPO	MIM:616050
NLRC4	Human	Urticaria		IAGP		8699517		HPO	MIM:616050
NLRC4	Human	Urticaria		IAGP		8699517		HPO	MIM:616115
NLRC4	Human	Villous atrophy		IAGP		8699517		HPO	MIM:616050

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NLRC4	Human	Spastic paraplegia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Spastic paraplegia	ClinVar	PMID:32581362
NLRC4	Human	Spastic paraplegia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Spastic paraplegia	ClinVar

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	OMIM Disease Annotation Pipeline	OMIM Disease Annotation Pipeline
3.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
4.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
6.	RGD HPO Phenotype Annotation Pipeline	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

PMID:11374873	PMID:11390368	PMID:11472070	PMID:12477932	PMID:12545166	PMID:12646168	PMID:12975309	PMID:14702039	PMID:15030775	PMID:15107016	PMID:15174051	PMID:15489334
PMID:15528373	PMID:15580302	PMID:15882992	PMID:16817903	PMID:17418785	PMID:17620097	PMID:18453601	PMID:20085538	PMID:20349122	PMID:21873635	PMID:21918512	PMID:22227487
PMID:22547706	PMID:22801494	PMID:22902502	PMID:23012363	PMID:23215645	PMID:23686814	PMID:24054992	PMID:24182552	PMID:24803432	PMID:25217960	PMID:25342284	PMID:25385754
PMID:25811392	PMID:25879286	PMID:26121197	PMID:26258904	PMID:26269955	PMID:26362438	PMID:26972847	PMID:27175981	PMID:27203668	PMID:27706238	PMID:27708283	PMID:27750030
PMID:27974463	PMID:28011505	PMID:28992059	PMID:29797527	PMID:30279182	PMID:30368901	PMID:30385506	PMID:30658261	PMID:30802690	PMID:30824190	PMID:31133717	PMID:31244842
PMID:31511355	PMID:31597739	PMID:31623628	PMID:31751447	PMID:32397236	PMID:32531834	PMID:32802832	PMID:32833985	PMID:33846244	PMID:33848452	PMID:34099337	PMID:34349018
PMID:34512673	PMID:35216164	PMID:35462504	PMID:35678562	PMID:36194479	PMID:36301367	PMID:36797819	PMID:36899084	PMID:36941318	PMID:36948192	PMID:37099347	PMID:37567492
PMID:37586642	PMID:37846829	PMID:38453949	PMID:38571451	PMID:38652550	PMID:39425177

NLRC4
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	2	32,224,449 - 32,265,743 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	2	32,224,453 - 32,265,732 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	2	32,449,518 - 32,490,812 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	2	32,303,022 - 32,344,305 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	2	32,361,170 - 32,402,452	NCBI
Celera	2	32,294,338 - 32,335,591 (-)	NCBI		Celera
Cytogenetic Map	2	p22.3	NCBI
HuRef	2	32,188,707 - 32,229,921 (-)	NCBI		HuRef
CHM1_1	2	32,379,411 - 32,420,670 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	2	32,272,955 - 32,314,278 (-)	NCBI		T2T-CHM13v2.0

Nlrc4
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	17	74,733,254 - 74,766,140 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	17	74,732,433 - 74,766,137 (-)	Ensembl		GRCm39 Ensembl
GRCm38	17	74,426,255 - 74,459,144 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	17	74,425,438 - 74,459,142 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	17	74,825,635 - 74,858,448 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	17	74,331,277 - 74,364,090 (-)	NCBI		MGSCv36	mm8
Celera	17	78,730,040 - 78,763,171 (-)	NCBI		Celera
Cytogenetic Map	17	E2	NCBI
cM Map	17	45.64	NCBI

Nlrc4
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	6	26,743,658 - 26,771,783 (+)	NCBI		GRCr8
mRatBN7.2	6	20,991,785 - 21,018,254 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	6	20,995,266 - 21,018,248 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	6	21,326,076 - 21,349,081 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	6	21,641,928 - 21,664,923 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	6	21,122,373 - 21,145,374 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	6	22,167,874 - 22,194,755 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	6	22,167,919 - 22,194,250 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	6	32,058,459 - 32,081,799 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	6	20,934,595 - 20,953,654 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	6	20,933,896 - 20,956,415 (+)	NCBI
Celera	6	20,554,800 - 20,577,780 (+)	NCBI		Celera
Cytogenetic Map	6	q13	NCBI

Nlrc4
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955441	570,880 - 603,128 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955441	570,853 - 607,529 (-)	NCBI	ChiLan1.0	ChiLan1.0

NLRC4
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	12	94,225,360 - 94,269,081 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	2A	94,229,345 - 94,273,056 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	2A	32,241,782 - 32,284,041 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	2A	32,954,185 - 32,996,465 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	2A	32,954,185 - 32,996,465 (-)	Ensembl	panpan1.1		panPan2

NLRC4
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ROS_Cfam_1.0	17	26,056,805 - 26,082,575 (-)	NCBI		ROS_Cfam_1.0
UU_Cfam_GSD_1.0	17	25,525,532 - 25,553,925 (-)	NCBI		UU_Cfam_GSD_1.0

Nlrc4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024406292	69,606,157 - 69,649,699 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936493	1,206,374 - 1,237,412 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936493	1,189,940 - 1,233,408 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

NLRC4
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1	3	107,358,117 - 107,389,557 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	3	114,568,336 - 114,571,717 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

NLRC4
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	14	75,229,262 - 75,273,336 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	14	75,242,274 - 75,273,312 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666045	36,801,347 - 36,842,252 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Nlrc4
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624738	13,836,717 - 13,873,783 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624738	13,836,678 - 13,863,881 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in NLRC4
740 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001199138.2(NLRC4):c.862C>G (p.Arg288Gly)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001853665]\|not provided [RCV000521468]	Chr2:32251002 [GRCh38] Chr2:32476071 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1999C>T (p.Arg667Trp)	single nucleotide variant	not provided [RCV000523688]	Chr2:32249865 [GRCh38] Chr2:32474934 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1776C>T (p.Pro592=)	single nucleotide variant	Autoinflammatory syndrome [RCV002264295]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001394564]	Chr2:32250088 [GRCh38] Chr2:32475157 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2785G>T (p.Ala929Ser)	single nucleotide variant	Autoinflammatory syndrome [RCV002263807]\|NLRC4-related disorder [RCV003925705]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000546974]\|not provided [RCV002263806]\|not specified [RCV001821634]	Chr2:32224763 [GRCh38] Chr2:32449832 [GRCh37] Chr2:2p22.3	benign
NM_001199138.2(NLRC4):c.1022T>C (p.Val341Ala)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000144517]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001857479]\|Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4) [RCV000132764]\|not provided [RCV000434682]	Chr2:32250842 [GRCh38] Chr2:32475911 [GRCh37] Chr2:2p22.3	pathogenic
GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	copy number gain	See cases [RCV000052933]	Chr2:66097..55570637 [GRCh38] Chr2:66097..55797773 [GRCh37] Chr2:56097..55651277 [NCBI36] Chr2:2p25.3-16.1	pathogenic
GRCh38/hg38 2p23.1-22.3(chr2:31370181-32512769)x1	copy number loss	See cases [RCV000053981]	Chr2:31370181..32512769 [GRCh38] Chr2:31593047..32737836 [GRCh37] Chr2:31446551..32591340 [NCBI36] Chr2:2p23.1-22.3	pathogenic
NM_001199138.1(NLRC4):c.1912G>A (p.Glu638Lys)	single nucleotide variant	Malignant melanoma [RCV000065568]	Chr2:32249952 [GRCh38] Chr2:32475021 [GRCh37] Chr2:32328525 [NCBI36] Chr2:2p22.3	not provided
NM_001199138.1(NLRC4):c.1518G>A (p.Met506Ile)	single nucleotide variant	Malignant melanoma [RCV000065569]	Chr2:32250346 [GRCh38] Chr2:32475415 [GRCh37] Chr2:32328919 [NCBI36] Chr2:2p22.3	not provided
NM_001199138.1(NLRC4):c.2249G>A (p.Arg750Gln)	single nucleotide variant	Malignant melanoma [RCV000060559]	Chr2:32249615 [GRCh38] Chr2:32474684 [GRCh37] Chr2:32328188 [NCBI36] Chr2:2p22.3	not provided
NM_001199138.2(NLRC4):c.2614+63A>G	single nucleotide variant	not provided [RCV000089196]	Chr2:32236184 [GRCh38] Chr2:32461253 [GRCh37] Chr2:2p22.3	not provided
inv(2)(p21p23.2)	inversion	Endometrial carcinoma [RCV000659263]	Chr2:29447680..42554394 [GRCh37] Chr2:2p23.2-21	likely pathogenic
NM_001199138.2(NLRC4):c.-118-1G>A	single nucleotide variant	not provided [RCV000089331]	Chr2:32256894 [GRCh38] Chr2:32481963 [GRCh37] Chr2:2p22.3	not provided
NM_001199138.2(NLRC4):c.1122C>T (p.Asn374=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001079581]\|not provided [RCV000089332]	Chr2:32250742 [GRCh38] Chr2:32475811 [GRCh37] Chr2:2p22.3	benign\|not provided
NM_001199138.2(NLRC4):c.1530A>G (p.Ala510=)	single nucleotide variant	NLRC4-related disorder [RCV004748578]\|not provided [RCV000089333]	Chr2:32250334 [GRCh38] Chr2:32475403 [GRCh37] Chr2:2p22.3	likely benign\|not provided
NM_001199138.2(NLRC4):c.1570G>A (p.Ala524Thr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002514549]\|not provided [RCV000089334]	Chr2:32250294 [GRCh38] Chr2:32475363 [GRCh37] Chr2:2p22.3	uncertain significance\|not provided
NM_001199138.2(NLRC4):c.1811A>G (p.Asn604Ser)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001058070]\|not provided [RCV000089335]	Chr2:32250053 [GRCh38] Chr2:32475122 [GRCh37] Chr2:2p22.3	uncertain significance\|not provided
NM_001199138.2(NLRC4):c.2-130C>G	single nucleotide variant	not provided [RCV000089336]	Chr2:32252809 [GRCh38] Chr2:32477878 [GRCh37] Chr2:2p22.3	not provided
NM_001199138.2(NLRC4):c.2-212C>T	single nucleotide variant	not provided [RCV000089337]	Chr2:32252891 [GRCh38] Chr2:32477960 [GRCh37] Chr2:2p22.3	not provided
NM_001199138.2(NLRC4):c.2350+283T>C	single nucleotide variant	not provided [RCV000089338]	Chr2:32240750 [GRCh38] Chr2:32465819 [GRCh37] Chr2:2p22.3	not provided
NM_001199138.2(NLRC4):c.2521+132A>T	single nucleotide variant	not provided [RCV000089339]	Chr2:32238000 [GRCh38] Chr2:32463069 [GRCh37] Chr2:2p22.3	not provided
NM_001199138.2(NLRC4):c.2522-35A>T	single nucleotide variant	not provided [RCV000089340]	Chr2:32236374 [GRCh38] Chr2:32461443 [GRCh37] Chr2:2p22.3	not provided
NM_001199138.2(NLRC4):c.2782+102T>C	single nucleotide variant	not provided [RCV000089341]	Chr2:32235299 [GRCh38] Chr2:32460368 [GRCh37] Chr2:2p22.3	not provided
NM_001199138.2(NLRC4):c.2782+38G>C	single nucleotide variant	not provided [RCV000089342]	Chr2:32235363 [GRCh38] Chr2:32460432 [GRCh37] Chr2:2p22.3	not provided
NM_001199138.2(NLRC4):c.2782+81C>T	single nucleotide variant	not provided [RCV000089343]	Chr2:32235320 [GRCh38] Chr2:32460389 [GRCh37] Chr2:2p22.3	not provided
NM_001199138.2(NLRC4):c.297C>T (p.Asp99=)	single nucleotide variant	NLRC4-related disorder [RCV003915116]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001489814]\|not provided [RCV000089344]	Chr2:32251567 [GRCh38] Chr2:32476636 [GRCh37] Chr2:2p22.3	likely benign\|not provided
NM_001199138.2(NLRC4):c.928C>T (p.Arg310Ter)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652408]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV004783744]\|not provided [RCV000089345]\|not specified [RCV003330434]	Chr2:32250936 [GRCh38] Chr2:32476005 [GRCh37] Chr2:2p22.3	conflicting interpretations of pathogenicity\|uncertain significance\|not provided
NM_001199138.2(NLRC4):c.1474C>T (p.Arg492Trp)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000660478]	Chr2:32250390 [GRCh38] Chr2:32475459 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.1(NLRC4):c.-1155A>G	single nucleotide variant	not provided [RCV000089197]	Chr2:32265774 [GRCh38] Chr2:32490843 [GRCh37] Chr2:2p22.3	not provided
NM_001199138.1(NLRC4):c.-1330G>T	single nucleotide variant	not provided [RCV000089198]	Chr2:32265949 [GRCh38] Chr2:32491018 [GRCh37] Chr2:2p22.3	not provided
NM_001199138.1(NLRC4):c.-1874C>A	single nucleotide variant	not provided [RCV000089199]	Chr2:32266493 [GRCh38] Chr2:32491562 [GRCh37] Chr2:2p22.3	not provided
NM_001199138.1(NLRC4):c.-1925A>T	single nucleotide variant	not provided [RCV000089200]	Chr2:32266544 [GRCh38] Chr2:32491613 [GRCh37] Chr2:2p22.3	not provided
NM_001199138.2(NLRC4):c.1328A>C (p.His443Pro)	single nucleotide variant	Familial cold autoinflammatory syndrome 4 [RCV000148929]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001227277]	Chr2:32250536 [GRCh38] Chr2:32475605 [GRCh37] Chr2:2p22.3	pathogenic\|not provided
NM_001199138.2(NLRC4):c.1661T>C (p.Phe554Ser)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002001552]	Chr2:32250203 [GRCh38] Chr2:32475272 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.443G>T (p.Arg148Leu)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001348988]	Chr2:32251421 [GRCh38] Chr2:32476490 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1009A>T (p.Thr337Ser)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000144518]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001382868]	Chr2:32250855 [GRCh38] Chr2:32475924 [GRCh37] Chr2:2p22.3	pathogenic
GRCh38/hg38 2p22.3(chr2:32107824-32499727)x3	copy number gain	See cases [RCV000137454]	Chr2:32107824..32499727 [GRCh38] Chr2:32332893..32724794 [GRCh37] Chr2:32186397..32578298 [NCBI36] Chr2:2p22.3	uncertain significance
GRCh38/hg38 2p22.3(chr2:32104942-32501212)x3	copy number gain	See cases [RCV000141819]	Chr2:32104942..32501212 [GRCh38] Chr2:32330011..32726279 [GRCh37] Chr2:32183515..32579783 [NCBI36] Chr2:2p22.3	uncertain significance
GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	copy number gain	See cases [RCV000141829]	Chr2:12770..33711509 [GRCh38] Chr2:12770..33936576 [GRCh37] Chr2:2770..33790080 [NCBI36] Chr2:2p25.3-22.3	pathogenic
GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	copy number gain	See cases [RCV000141494]	Chr2:7495123..87705899 [GRCh38] Chr2:7635254..88005418 [GRCh37] Chr2:7552705..87786533 [NCBI36] Chr2:2p25.1-11.2	benign
GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	copy number gain	See cases [RCV000143682]	Chr2:236816..45983232 [GRCh38] Chr2:236816..46210371 [GRCh37] Chr2:226816..46063875 [NCBI36] Chr2:2p25.3-21	pathogenic
Single allele	deletion	Hereditary spastic paraplegia 4 [RCV000203462]	Chr2:32327163..32886455 [GRCh37] Chr2:2p22.3	pathogenic
Single allele	deletion	Hereditary spastic paraplegia 4 [RCV000203468]	Chr2:32362824..32817794 [GRCh37] Chr2:2p22.3	pathogenic\|likely pathogenic
Single allele	deletion	Hereditary spastic paraplegia 4 [RCV000203489]	Chr2:32076979..32247094 [GRCh38] Chr2:32302047..32472162 [GRCh37] Chr2:2p22.3	pathogenic
Single allele	deletion	Hereditary spastic paraplegia 4 [RCV000203490]	Chr2:32348594..33632523 [GRCh37] Chr2:2p22.3	pathogenic
NM_001199138.2(NLRC4):c.2357G>T (p.Gly786Val)	single nucleotide variant	Autoinflammatory syndrome [RCV002263805]\|NLRC4-related disorder [RCV003925704]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000546624]\|not provided [RCV001706673]\|not specified [RCV002268166]	Chr2:32238296 [GRCh38] Chr2:32463365 [GRCh37] Chr2:2p22.3	benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_001199138.2(NLRC4):c.876C>T (p.Ala292=)	single nucleotide variant	not provided [RCV003312470]	Chr2:32250988 [GRCh38] Chr2:32476057 [GRCh37] Chr2:2p22.3	likely benign
NC_000002.11:g.(32289091_32312562)_(32958959_32999928)del	deletion	Hereditary spastic paraplegia 4 [RCV001269482]	Chr2:32312562..32958959 [GRCh37] Chr2:2p22.3	likely pathogenic
NM_001199138.2(NLRC4):c.931G>A (p.Glu311Lys)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002227543]	Chr2:32250933 [GRCh38] Chr2:32476002 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.512C>T (p.Ser171Phe)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000414888]	Chr2:32251352 [GRCh38] Chr2:32476421 [GRCh37] Chr2:2p22.3	likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3	copy number gain	not provided [RCV000752802]	Chr2:14238..243048760 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3	copy number gain	See cases [RCV000454271]	Chr2:27861707..60790985 [GRCh37] Chr2:2p23.3-16.1	pathogenic
GRCh37/hg19 2p23.2-21(chr2:28069882-43543420)x3	copy number gain	See cases [RCV000447397]	Chr2:28069882..43543420 [GRCh37] Chr2:2p23.2-21	pathogenic
NM_001199138.2(NLRC4):c.2740T>C (p.Leu914=)	single nucleotide variant	Autoinflammatory syndrome [RCV002263692]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000531949]\|not provided [RCV001727728]\|not specified [RCV000454626]	Chr2:32235443 [GRCh38] Chr2:32460512 [GRCh37] Chr2:2p22.3	benign\|likely benign
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	copy number gain	See cases [RCV000512056]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NM_001199138.2(NLRC4):c.1824C>T (p.Ala608=)	single nucleotide variant	Familial cold autoinflammatory syndrome 4 [RCV001782914]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001511110]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001782913]\|not provided [RCV001675900]\|not specified [RCV000455300]	Chr2:32250040 [GRCh38] Chr2:32475109 [GRCh37] Chr2:2p22.3	benign
NM_001199138.2(NLRC4):c.543A>C (p.Arg181=)	single nucleotide variant	Familial cold autoinflammatory syndrome 4 [RCV001782916]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001511111]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001782915]\|not provided [RCV001824777]\|not specified [RCV000455841]	Chr2:32251321 [GRCh38] Chr2:32476390 [GRCh37] Chr2:2p22.3	benign\|not provided
NM_001199138.2(NLRC4):c.1+4_1+7del	microsatellite	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001042860]\|not provided [RCV000487085]	Chr2:32256768..32256771 [GRCh38] Chr2:32481837..32481840 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.620G>A (p.Arg207Lys)	single nucleotide variant	not provided [RCV000487229]	Chr2:32251244 [GRCh38] Chr2:32476313 [GRCh37] Chr2:2p22.3	likely pathogenic
NM_001199138.2(NLRC4):c.1542A>G (p.Gln514=)	single nucleotide variant	Autoinflammatory syndrome [RCV002263804]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000531894]\|not provided [RCV004708951]	Chr2:32250322 [GRCh38] Chr2:32475391 [GRCh37] Chr2:2p22.3	benign
NM_001199138.2(NLRC4):c.1511C>T (p.Ala504Val)	single nucleotide variant	not provided [RCV000492808]	Chr2:32250353 [GRCh38] Chr2:32475422 [GRCh37] Chr2:2p22.3	uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	copy number gain	See cases [RCV000511212]	Chr2:12771..242783384 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NM_001199138.2(NLRC4):c.1271C>A (p.Thr424Asn)	single nucleotide variant	Inborn genetic diseases [RCV003281737]	Chr2:32250593 [GRCh38] Chr2:32475662 [GRCh37] Chr2:2p22.3	uncertain significance
GRCh37/hg19 2p22.3(chr2:32339736-32875274)	copy number loss	not provided [RCV000767550]	Chr2:32339736..32875274 [GRCh37] Chr2:2p22.3	pathogenic
NM_001199138.2(NLRC4):c.2464C>A (p.Leu822Ile)	single nucleotide variant	Inborn genetic diseases [RCV003275229]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005216027]	Chr2:32238189 [GRCh38] Chr2:32463258 [GRCh37] Chr2:2p22.3	uncertain significance
t(2;2)(p23;p21)(hg19 chr2:g.42552694::ochr2:g.29446394)	inversion	Small cell lung carcinoma [RCV000576833]	Chr2:29446394..42552694 [GRCh37] Chr2:2p23.2-21	pathogenic
NM_001199138.2(NLRC4):c.952G>C (p.Ala318Pro)	single nucleotide variant	Inborn genetic diseases [RCV003262484]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003779989]	Chr2:32250912 [GRCh38] Chr2:32475981 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2426A>G (p.Asp809Gly)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000558163]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003227790]	Chr2:32238227 [GRCh38] Chr2:32463296 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.3052G>A (p.Ala1018Thr)	single nucleotide variant	Inborn genetic diseases [RCV004957962]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652407]	Chr2:32224496 [GRCh38] Chr2:32449565 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1015C>A (p.Leu339Ile)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652409]	Chr2:32250849 [GRCh38] Chr2:32475918 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.90G>A (p.Trp30Ter)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652410]	Chr2:32252591 [GRCh38] Chr2:32477660 [GRCh37] Chr2:2p22.3	pathogenic\|likely benign\|uncertain significance
NM_001199138.2(NLRC4):c.1870T>A (p.Trp624Arg)	single nucleotide variant	Autoinflammatory syndrome [RCV002263914]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652411]\|not provided [RCV004708980]	Chr2:32249994 [GRCh38] Chr2:32475063 [GRCh37] Chr2:2p22.3	benign
NM_001199138.2(NLRC4):c.2615-8T>C	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652412]	Chr2:32235576 [GRCh38] Chr2:32460645 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2945C>G (p.Ala982Gly)	single nucleotide variant	Autoinflammatory syndrome [RCV002263915]\|NLRC4-related disorder [RCV003965401]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652413]	Chr2:32224603 [GRCh38] Chr2:32449672 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2727C>T (p.Leu909=)	single nucleotide variant	Autoinflammatory syndrome [RCV002263916]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652414]\|not provided [RCV002510948]	Chr2:32235456 [GRCh38] Chr2:32460525 [GRCh37] Chr2:2p22.3	benign\|likely benign
NM_001199138.2(NLRC4):c.2668T>C (p.Cys890Arg)	single nucleotide variant	Autoinflammatory syndrome [RCV002263917]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652415]\|not provided [RCV004708981]	Chr2:32235515 [GRCh38] Chr2:32460584 [GRCh37] Chr2:2p22.3	benign
NM_001199138.2(NLRC4):c.478G>A (p.Ala160Thr)	single nucleotide variant	Autoinflammatory syndrome [RCV002263918]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652416]\|not provided [RCV001701430]	Chr2:32251386 [GRCh38] Chr2:32476455 [GRCh37] Chr2:2p22.3	benign\|likely benign\|conflicting interpretations of pathogenicity
NM_001199138.2(NLRC4):c.2247A>G (p.Gln749=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001427396]	Chr2:32249617 [GRCh38] Chr2:32474686 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1683A>G (p.Leu561=)	single nucleotide variant	Autoinflammatory syndrome [RCV002263919]\|NLRC4-related disorder [RCV003945671]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652418]\|not provided [RCV003424249]	Chr2:32250181 [GRCh38] Chr2:32475250 [GRCh37] Chr2:2p22.3	benign\|likely benign
NM_001199138.2(NLRC4):c.2256G>A (p.Pro752=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652419]\|not provided [RCV004711280]	Chr2:32249608 [GRCh38] Chr2:32474677 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2350+9T>A	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652420]	Chr2:32241024 [GRCh38] Chr2:32466093 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1248G>A (p.Val416=)	single nucleotide variant	Autoinflammatory syndrome [RCV002263920]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000652421]\|not provided [RCV001311916]	Chr2:32250616 [GRCh38] Chr2:32475685 [GRCh37] Chr2:2p22.3	benign\|likely benign
NM_001199138.2(NLRC4):c.1734C>A (p.Phe578Leu)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000699034]	Chr2:32250130 [GRCh38] Chr2:32475199 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2968G>A (p.Val990Met)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000704206]	Chr2:32224580 [GRCh38] Chr2:32449649 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2843G>A (p.Arg948His)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000705772]\|not provided [RCV002223926]	Chr2:32224705 [GRCh38] Chr2:32449774 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.213dup (p.Ser72fs)	duplication	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000685008]	Chr2:32252467..32252468 [GRCh38] Chr2:32477536..32477537 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.371T>C (p.Ile124Thr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000699609]	Chr2:32251493 [GRCh38] Chr2:32476562 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1475G>A (p.Arg492Gln)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000691940]	Chr2:32250389 [GRCh38] Chr2:32475458 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2449A>G (p.Ser817Gly)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000698617]\|not provided [RCV001771979]	Chr2:32238204 [GRCh38] Chr2:32463273 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.494G>C (p.Cys165Ser)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000694762]	Chr2:32251370 [GRCh38] Chr2:32476439 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.871G>A (p.Gly291Ser)	single nucleotide variant	Inborn genetic diseases [RCV002533484]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000697341]	Chr2:32250993 [GRCh38] Chr2:32476062 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1754A>G (p.Tyr585Cys)	single nucleotide variant	Familial cold autoinflammatory syndrome 4 [RCV001334126]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000688756]	Chr2:32250110 [GRCh38] Chr2:32475179 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.845A>C (p.Glu282Ala)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000705199]	Chr2:32251019 [GRCh38] Chr2:32476088 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.3033T>G (p.Asp1011Glu)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000705693]	Chr2:32224515 [GRCh38] Chr2:32449584 [GRCh37] Chr2:2p22.3	likely benign\|uncertain significance
NM_001199138.2(NLRC4):c.176_178delinsGG (p.Leu59fs)	indel	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000685768]	Chr2:32252503..32252505 [GRCh38] Chr2:32477572..32477574 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.104G>A (p.Arg35His)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000703380]\|not specified [RCV003323694]	Chr2:32252577 [GRCh38] Chr2:32477646 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1160T>C (p.Ile387Thr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000692040]	Chr2:32250704 [GRCh38] Chr2:32475773 [GRCh37] Chr2:2p22.3	uncertain significance
Single allele	deletion	Spastic paraplegia [RCV001004038]	Chr2:32300219..32451677 [GRCh37] Chr2:2p22.3	likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3	copy number gain	not provided [RCV000752804]	Chr2:15672..243101834 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
GRCh37/hg19 2p24.1-16.3(chr2:22665048-52850368)x3	copy number gain	not provided [RCV000752875]	Chr2:22665048..52850368 [GRCh37] Chr2:2p24.1-16.3	pathogenic
GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	copy number gain	not provided [RCV001532444]	Chr2:24881528..43460021 [GRCh37] Chr2:2p23.3-21	likely pathogenic
NM_001199138.2(NLRC4):c.945G>A (p.Lys315=)	single nucleotide variant	Autoinflammatory syndrome [RCV002264127]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001484322]	Chr2:32250919 [GRCh38] Chr2:32475988 [GRCh37] Chr2:2p22.3	likely benign\|uncertain significance
NM_001199138.2(NLRC4):c.2759_2760del (p.Thr920fs)	microsatellite	not provided [RCV000762265]	Chr2:32235423..32235424 [GRCh38] Chr2:32460492..32460493 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1304T>A (p.Phe435Tyr)	single nucleotide variant	NLRC4-related disorder [RCV003898048]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001043552]	Chr2:32250560 [GRCh38] Chr2:32475629 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1214A>G (p.Lys405Arg)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001067134]	Chr2:32250650 [GRCh38] Chr2:32475719 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1047G>T (p.Met349Ile)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001067298]	Chr2:32250817 [GRCh38] Chr2:32475886 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2631G>A (p.Val877=)	single nucleotide variant	Autoinflammatory syndrome [RCV002264097]\|NLRC4-related disorder [RCV003895625]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002066014]	Chr2:32235552 [GRCh38] Chr2:32460621 [GRCh37] Chr2:2p22.3	likely benign\|uncertain significance
NM_001199138.2(NLRC4):c.327C>T (p.Tyr109=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001493540]	Chr2:32251537 [GRCh38] Chr2:32476606 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2370G>C (p.Leu790=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000982074]	Chr2:32238283 [GRCh38] Chr2:32463352 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2589T>C (p.Asp863=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001491073]	Chr2:32236272 [GRCh38] Chr2:32461341 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.549C>T (p.Ala183=)	single nucleotide variant	Autoinflammatory syndrome [RCV002264134]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002549592]	Chr2:32251315 [GRCh38] Chr2:32476384 [GRCh37] Chr2:2p22.3	likely benign\|uncertain significance
NM_001199138.2(NLRC4):c.2844T>C (p.Arg948=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000899473]	Chr2:32224704 [GRCh38] Chr2:32449773 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.240A>G (p.Leu80=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001472394]	Chr2:32252441 [GRCh38] Chr2:32477510 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1357C>T (p.Arg453Ter)	single nucleotide variant	NLRC4-related disorder [RCV004749544]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000923633]\|not provided [RCV003132123]	Chr2:32250507 [GRCh38] Chr2:32475576 [GRCh37] Chr2:2p22.3	pathogenic\|likely benign\|uncertain significance
NM_001199138.2(NLRC4):c.433C>T (p.His145Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002539287]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000879716]	Chr2:32251431 [GRCh38] Chr2:32476500 [GRCh37] Chr2:2p22.3	benign\|uncertain significance
NM_001199138.2(NLRC4):c.1978A>G (p.Arg660Gly)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001061192]	Chr2:32249886 [GRCh38] Chr2:32474955 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1400T>C (p.Val467Ala)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001051135]	Chr2:32250464 [GRCh38] Chr2:32475533 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1466G>C (p.Ser489Thr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001055275]	Chr2:32250398 [GRCh38] Chr2:32475467 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.124T>C (p.Cys42Arg)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001061606]	Chr2:32252557 [GRCh38] Chr2:32477626 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.913G>A (p.Ala305Thr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001061803]	Chr2:32250951 [GRCh38] Chr2:32476020 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2263C>A (p.Leu755Met)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001035785]	Chr2:32241120 [GRCh38] Chr2:32466189 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2818C>T (p.Gln940Ter)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001038069]	Chr2:32224730 [GRCh38] Chr2:32449799 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.236C>T (p.Pro79Leu)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001072000]	Chr2:32252445 [GRCh38] Chr2:32477514 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2680G>T (p.Gly894Cys)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001037658]	Chr2:32235503 [GRCh38] Chr2:32460572 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.112G>A (p.Val38Ile)	single nucleotide variant	Inborn genetic diseases [RCV004649432]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001051964]	Chr2:32252569 [GRCh38] Chr2:32477638 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2959C>T (p.Leu987Phe)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001054223]	Chr2:32224589 [GRCh38] Chr2:32449658 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1010C>A (p.Thr337Asn)	single nucleotide variant	not provided [RCV000788693]	Chr2:32250854 [GRCh38] Chr2:32475923 [GRCh37] Chr2:2p22.3	likely pathogenic
NM_001199138.2(NLRC4):c.1380G>A (p.Thr460=)	single nucleotide variant	Autoinflammatory syndrome [RCV002264079]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000907961]	Chr2:32250484 [GRCh38] Chr2:32475553 [GRCh37] Chr2:2p22.3	benign\|likely benign
NM_001199138.2(NLRC4):c.2277G>A (p.Leu759=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001493155]	Chr2:32241106 [GRCh38] Chr2:32466175 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1564T>C (p.Ser522Pro)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000936869]	Chr2:32250300 [GRCh38] Chr2:32475369 [GRCh37] Chr2:2p22.3	benign
NM_001199138.2(NLRC4):c.1311A>G (p.Pro437=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002545927]	Chr2:32250553 [GRCh38] Chr2:32475622 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2487C>T (p.Ser829=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001438140]	Chr2:32238166 [GRCh38] Chr2:32463235 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2629G>A (p.Val877Met)	single nucleotide variant	Autoinflammatory syndrome [RCV002264092]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000918927]\|not provided [RCV001091366]	Chr2:32235554 [GRCh38] Chr2:32460623 [GRCh37] Chr2:2p22.3	likely benign\|uncertain significance
NM_001199138.2(NLRC4):c.123T>C (p.Ile41=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001087163]\|not provided [RCV000942263]	Chr2:32252558 [GRCh38] Chr2:32477627 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2257+7T>C	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000940031]	Chr2:32249600 [GRCh38] Chr2:32474669 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.30C>T (p.Ala10=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000914153]\|not provided [RCV001311919]	Chr2:32252651 [GRCh38] Chr2:32477720 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.839C>T (p.Thr280Ile)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003314367]	Chr2:32251025 [GRCh38] Chr2:32476094 [GRCh37] Chr2:2p22.3	uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	copy number gain	Mosaic trisomy 2 [RCV002280628]	Chr2:1..243199373 [GRCh37] Chr2:2p25.3-q37.3	pathogenic
NM_001199138.2(NLRC4):c.377T>C (p.Ile126Thr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000815607]	Chr2:32251487 [GRCh38] Chr2:32476556 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.281C>T (p.Ser94Leu)	single nucleotide variant	Autoinflammatory syndrome [RCV002264022]\|Inborn genetic diseases [RCV002537487]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000821025]	Chr2:32251583 [GRCh38] Chr2:32476652 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2647G>A (p.Ala883Thr)	single nucleotide variant	Autoinflammatory syndrome [RCV002263988]\|Inborn genetic diseases [RCV002534612]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000796870]\|not provided [RCV004792481]	Chr2:32235536 [GRCh38] Chr2:32460605 [GRCh37] Chr2:2p22.3	likely benign\|uncertain significance
NM_001199138.2(NLRC4):c.2380T>C (p.Cys794Arg)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000819165]\|See cases [RCV002252251]	Chr2:32238273 [GRCh38] Chr2:32463342 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2368C>G (p.Leu790Val)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000793374]	Chr2:32238285 [GRCh38] Chr2:32463354 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1571C>T (p.Ala524Val)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000801225]	Chr2:32250293 [GRCh38] Chr2:32475362 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.572G>T (p.Cys191Phe)	single nucleotide variant	Inborn genetic diseases [RCV002534796]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000804885]	Chr2:32251292 [GRCh38] Chr2:32476361 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1651A>G (p.Ile551Val)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000803212]	Chr2:32250213 [GRCh38] Chr2:32475282 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2043dup (p.Lys682fs)	duplication	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000807387]	Chr2:32249820..32249821 [GRCh38] Chr2:32474889..32474890 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2951T>C (p.Val984Ala)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000807528]	Chr2:32224597 [GRCh38] Chr2:32449666 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1242C>T (p.Ser414=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002067622]\|not provided [RCV000997113]	Chr2:32250622 [GRCh38] Chr2:32475691 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2847G>A (p.Val949=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000893562]	Chr2:32224701 [GRCh38] Chr2:32449770 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1897G>A (p.Gly633Arg)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000793139]\|not provided [RCV002263979]	Chr2:32249967 [GRCh38] Chr2:32475036 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.3053C>G (p.Ala1018Gly)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000819412]	Chr2:32224495 [GRCh38] Chr2:32449564 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1229T>C (p.Leu410Pro)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000799324]	Chr2:32250635 [GRCh38] Chr2:32475704 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2925A>C (p.Lys975Asn)	single nucleotide variant	Inborn genetic diseases [RCV002538133]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000812783]\|not provided [RCV001172136]	Chr2:32224623 [GRCh38] Chr2:32449692 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2728G>A (p.Val910Ile)	single nucleotide variant	Familial cold autoinflammatory syndrome 4 [RCV002468606]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000793887]	Chr2:32235455 [GRCh38] Chr2:32460524 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.103C>T (p.Arg35Cys)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000820690]	Chr2:32252578 [GRCh38] Chr2:32477647 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.263-7C>G	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001440500]\|not provided [RCV000788753]	Chr2:32251608 [GRCh38] Chr2:32476677 [GRCh37] Chr2:2p22.3	likely benign\|uncertain significance
NM_001199138.2(NLRC4):c.287G>T (p.Gly96Val)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000804554]	Chr2:32251577 [GRCh38] Chr2:32476646 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2860T>A (p.Trp954Arg)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000823683]	Chr2:32224688 [GRCh38] Chr2:32449757 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2674G>A (p.Val892Met)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000805103]	Chr2:32235509 [GRCh38] Chr2:32460578 [GRCh37] Chr2:2p22.3	uncertain significance
GRCh37/hg19 2p23.2-22.2(chr2:29940473-36813297)x1	copy number loss	not provided [RCV000848001]	Chr2:29940473..36813297 [GRCh37] Chr2:2p23.2-22.2	pathogenic
NM_001199138.2(NLRC4):c.2882T>C (p.Phe961Ser)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000811655]	Chr2:32224666 [GRCh38] Chr2:32449735 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1799A>G (p.Glu600Gly)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000795239]	Chr2:32250065 [GRCh38] Chr2:32475134 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.617G>C (p.Ser206Thr)	single nucleotide variant	Autoinflammatory syndrome [RCV002264155]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001046241]	Chr2:32251247 [GRCh38] Chr2:32476316 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.476A>G (p.Gln159Arg)	single nucleotide variant	Inborn genetic diseases [RCV003166313]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000812067]	Chr2:32251388 [GRCh38] Chr2:32476457 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1163G>A (p.Arg388Gln)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000791482]	Chr2:32250701 [GRCh38] Chr2:32475770 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.3062T>A (p.Leu1021Gln)	single nucleotide variant	Inborn genetic diseases [RCV002537993]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000798401]	Chr2:32224486 [GRCh38] Chr2:32449555 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2713G>A (p.Glu905Lys)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000822046]	Chr2:32235470 [GRCh38] Chr2:32460539 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.890T>A (p.Val297Glu)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000800820]	Chr2:32250974 [GRCh38] Chr2:32476043 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.966G>A (p.Leu322=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000978114]	Chr2:32250898 [GRCh38] Chr2:32475967 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2387_2388del (p.Phe796fs)	deletion	not provided [RCV000997110]	Chr2:32238265..32238266 [GRCh38] Chr2:32463334..32463335 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.514G>A (p.Gly172Ser)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001858853]\|not provided [RCV000997114]	Chr2:32251350 [GRCh38] Chr2:32476419 [GRCh37] Chr2:2p22.3	likely pathogenic\|uncertain significance
NM_001199138.2(NLRC4):c.583A>C (p.Thr195Pro)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001043473]	Chr2:32251281 [GRCh38] Chr2:32476350 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.929G>A (p.Arg310Gln)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001202888]	Chr2:32250935 [GRCh38] Chr2:32476004 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.371T>G (p.Ile124Ser)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001208575]	Chr2:32251493 [GRCh38] Chr2:32476562 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2369T>C (p.Leu790Pro)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001217498]	Chr2:32238284 [GRCh38] Chr2:32463353 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.129C>T (p.Cys43=)	single nucleotide variant	Autoinflammatory syndrome [RCV002264234]\|NLRC4-related disorder [RCV003963132]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001223843]	Chr2:32252552 [GRCh38] Chr2:32477621 [GRCh37] Chr2:2p22.3	likely benign\|uncertain significance
NM_001199138.2(NLRC4):c.1025T>C (p.Val342Ala)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001238333]	Chr2:32250839 [GRCh38] Chr2:32475908 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.863G>A (p.Arg288Gln)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001207237]	Chr2:32251001 [GRCh38] Chr2:32476070 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1484G>A (p.Cys495Tyr)	single nucleotide variant	not provided [RCV000997111]	Chr2:32250380 [GRCh38] Chr2:32475449 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2458T>C (p.Cys820Arg)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001210160]	Chr2:32238195 [GRCh38] Chr2:32463264 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1621A>G (p.Thr541Ala)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001232490]	Chr2:32250243 [GRCh38] Chr2:32475312 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.718C>T (p.Arg240Trp)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001207476]	Chr2:32251146 [GRCh38] Chr2:32476215 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2876G>C (p.Gly959Ala)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001247319]\|not provided [RCV001751504]	Chr2:32224672 [GRCh38] Chr2:32449741 [GRCh37] Chr2:2p22.3	uncertain significance
GRCh37/hg19 2p23.1-22.3(chr2:31958977-33946495)x1	copy number loss	not provided [RCV000846044]	Chr2:31958977..33946495 [GRCh37] Chr2:2p23.1-22.3	pathogenic
NM_001199138.2(NLRC4):c.286G>C (p.Gly96Arg)	single nucleotide variant	NLRC4-related disorder [RCV003396709]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001065350]	Chr2:32251578 [GRCh38] Chr2:32476647 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1021G>T (p.Val341Leu)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003126395]	Chr2:32250843 [GRCh38] Chr2:32475912 [GRCh37] Chr2:2p22.3	pathogenic
NM_001199138.2(NLRC4):c.2782+122T>C	single nucleotide variant	not provided [RCV001676280]	Chr2:32235279 [GRCh38] Chr2:32235279..32235280 [GRCh38] Chr2:32460348 [GRCh37] Chr2:32460348..32460349 [GRCh37] Chr2:2p22.3	benign
NM_001199138.2(NLRC4):c.2001G>A (p.Arg667=)	single nucleotide variant	not provided [RCV001532395]	Chr2:32249863 [GRCh38] Chr2:32474932 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1083G>A (p.Thr361=)	single nucleotide variant	Autoinflammatory syndrome [RCV002264062]\|NLRC4-related disorder [RCV003920823]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000894690]	Chr2:32250781 [GRCh38] Chr2:32475850 [GRCh37] Chr2:2p22.3	benign\|likely benign
NM_001199138.2(NLRC4):c.2522-8T>C	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001423017]	Chr2:32236347 [GRCh38] Chr2:32461416 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.432A>G (p.Gln144=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000932380]	Chr2:32251432 [GRCh38] Chr2:32476501 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2522-4C>G	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001484770]	Chr2:32236343 [GRCh38] Chr2:32461412 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1651A>T (p.Ile551Phe)	single nucleotide variant	NLRC4-related disorder [RCV004749533]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001441723]	Chr2:32250213 [GRCh38] Chr2:32475282 [GRCh37] Chr2:2p22.3	likely benign\|uncertain significance
NM_001199138.2(NLRC4):c.632G>A (p.Gly211Glu)	single nucleotide variant	Autoinflammatory syndrome [RCV002264123]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000974731]	Chr2:32251232 [GRCh38] Chr2:32476301 [GRCh37] Chr2:2p22.3	benign\|likely benign
NM_001199138.2(NLRC4):c.2883T>C (p.Phe961=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001457338]\|not provided [RCV004711403]	Chr2:32224665 [GRCh38] Chr2:32449734 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1569C>T (p.Ile523=)	single nucleotide variant	Autoinflammatory syndrome [RCV002264125]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001482908]\|not provided [RCV003883519]	Chr2:32250295 [GRCh38] Chr2:32475364 [GRCh37] Chr2:2p22.3	likely benign\|uncertain significance
NM_001199138.2(NLRC4):c.444C>T (p.Arg148=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001426153]	Chr2:32251420 [GRCh38] Chr2:32476489 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.912C>T (p.Ser304=)	single nucleotide variant	NLRC4-related disorder [RCV003930860]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000894108]\|not specified [RCV004689920]	Chr2:32250952 [GRCh38] Chr2:32476021 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2628C>A (p.Asn876Lys)	single nucleotide variant	Autoinflammatory syndrome [RCV002264118]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000973771]	Chr2:32235555 [GRCh38] Chr2:32460624 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2614+9G>A	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000908962]	Chr2:32236238 [GRCh38] Chr2:32461307 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1940G>A (p.Arg647Lys)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001239247]\|not provided [RCV002224035]	Chr2:32249924 [GRCh38] Chr2:32474993 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.926T>A (p.Ile309Asn)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001227069]	Chr2:32250938 [GRCh38] Chr2:32476007 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.854G>A (p.Arg285Lys)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001227284]	Chr2:32251010 [GRCh38] Chr2:32476079 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2255C>T (p.Pro752Leu)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001216639]	Chr2:32249609 [GRCh38] Chr2:32474678 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.185G>A (p.Gly62Asp)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001216947]	Chr2:32252496 [GRCh38] Chr2:32477565 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.809G>A (p.Arg270His)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001237610]	Chr2:32251055 [GRCh38] Chr2:32476124 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1628A>C (p.Gln543Pro)	single nucleotide variant	Inborn genetic diseases [RCV002554515]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001067299]\|not provided [RCV002254950]	Chr2:32250236 [GRCh38] Chr2:32475305 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2687T>A (p.Leu896Gln)	single nucleotide variant	Autoinflammatory syndrome [RCV002264236]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001227748]	Chr2:32235496 [GRCh38] Chr2:32460565 [GRCh37] Chr2:2p22.3	uncertain significance
NC_000002.11:g.(?_31558804)_(32481864_?)dup	duplication	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001031927]	Chr2:31558804..32481864 [GRCh37] Chr2:2p23.1-22.3	uncertain significance
NM_001199138.2(NLRC4):c.2628C>T (p.Asn876=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000913022]\|not provided [RCV001091367]	Chr2:32235555 [GRCh38] Chr2:32460624 [GRCh37] Chr2:2p22.3	benign\|likely benign
NM_001199138.2(NLRC4):c.1329C>G (p.His443Gln)	single nucleotide variant	not provided [RCV000997112]	Chr2:32250535 [GRCh38] Chr2:32475604 [GRCh37] Chr2:2p22.3	likely pathogenic
NM_001199138.2(NLRC4):c.2646C>T (p.Thr882=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002065804]\|not provided [RCV003411888]	Chr2:32235537 [GRCh38] Chr2:32460606 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1224C>T (p.Phe408=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000933986]	Chr2:32250640 [GRCh38] Chr2:32475709 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1080A>G (p.Thr360=)	single nucleotide variant	Autoinflammatory syndrome [RCV002264103]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV000934720]	Chr2:32250784 [GRCh38] Chr2:32475853 [GRCh37] Chr2:2p22.3	likely benign\|uncertain significance
NM_001199138.2(NLRC4):c.1333T>C (p.Ser445Pro)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005227784]\|not provided [RCV002469924]	Chr2:32250531 [GRCh38] Chr2:32475600 [GRCh37] Chr2:2p22.3	pathogenic\|likely pathogenic
NM_001199138.2(NLRC4):c.1+50del	deletion	not provided [RCV001595611]\|not specified [RCV003394157]	Chr2:32256725 [GRCh38] Chr2:32481794 [GRCh37] Chr2:2p22.3	benign
NM_001199138.2(NLRC4):c.2350+73T>C	single nucleotide variant	not provided [RCV001614066]\|not specified [RCV003394164]	Chr2:32240960 [GRCh38] Chr2:32466029 [GRCh37] Chr2:2p22.3	benign
NM_001199138.2(NLRC4):c.2783-54_2783-51dup	duplication	not provided [RCV001678315]	Chr2:32224810..32224811 [GRCh38] Chr2:32449879..32449880 [GRCh37] Chr2:2p22.3	benign
NM_001199138.2(NLRC4):c.2783-40_2783-37del	deletion	not provided [RCV001676261]	Chr2:32224802..32224805 [GRCh38] Chr2:32449871..32449874 [GRCh37] Chr2:2p22.3	benign
NM_001199138.2(NLRC4):c.2783-41_2783-38del	deletion	not provided [RCV001620330]\|not specified [RCV003399431]	Chr2:32224803..32224806 [GRCh38] Chr2:32449872..32449875 [GRCh37] Chr2:2p22.3	benign
NM_001199138.2(NLRC4):c.2615-151dup	duplication	not provided [RCV001621408]	Chr2:32235710..32235711 [GRCh38] Chr2:32460779..32460780 [GRCh37] Chr2:2p22.3	benign
NM_001199138.2(NLRC4):c.2615-182_2615-176del	deletion	not provided [RCV001674777]	Chr2:32235744..32235750 [GRCh38] Chr2:32460813..32460819 [GRCh37] Chr2:2p22.3	benign
NC_000002.12:g.(?_32241013)_(32241145_?)del	deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001032196]	Chr2:32466082..32466214 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2443_2444del (p.Leu815fs)	microsatellite	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001047216]	Chr2:32238209..32238210 [GRCh38] Chr2:32463278..32463279 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2783-45A>T	single nucleotide variant	not provided [RCV001667887]	Chr2:32224810 [GRCh38] Chr2:32449879 [GRCh37] Chr2:2p22.3	benign
NM_001199138.2(NLRC4):c.2783-42_2783-38del	deletion	not provided [RCV001616329]	Chr2:32224803..32224807 [GRCh38] Chr2:32449872..32449876 [GRCh37] Chr2:2p22.3	benign
NM_001199138.2(NLRC4):c.545T>C (p.Ile182Thr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001048963]	Chr2:32251319 [GRCh38] Chr2:32476388 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.272A>G (p.His91Arg)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001216201]	Chr2:32251592 [GRCh38] Chr2:32476661 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.59T>C (p.Ile20Thr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001060818]	Chr2:32252622 [GRCh38] Chr2:32477691 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2945C>A (p.Ala982Glu)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001236029]	Chr2:32224603 [GRCh38] Chr2:32449672 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2430_2433del (p.Asp809_Tyr810insTer)	deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001202442]	Chr2:32238220..32238223 [GRCh38] Chr2:32463289..32463292 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2663G>A (p.Trp888Ter)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001236273]	Chr2:32235520 [GRCh38] Chr2:32460589 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2474T>C (p.Ile825Thr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001207310]	Chr2:32238179 [GRCh38] Chr2:32463248 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.944A>G (p.Lys315Arg)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001040827]	Chr2:32250920 [GRCh38] Chr2:32475989 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.3064G>C (p.Val1022Leu)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001216755]	Chr2:32224484 [GRCh38] Chr2:32449553 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2751G>T (p.Trp917Cys)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001053905]	Chr2:32235432 [GRCh38] Chr2:32460501 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.655C>T (p.Gln219Ter)	single nucleotide variant	Autoinflammatory syndrome [RCV002264171]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001064228]	Chr2:32251209 [GRCh38] Chr2:32476278 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.380T>C (p.Ile127Thr)	single nucleotide variant	Inborn genetic diseases [RCV004960376]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001054882]\|not provided [RCV001311917]	Chr2:32251484 [GRCh38] Chr2:32476553 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.358C>G (p.Leu120Val)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001055870]	Chr2:32251506 [GRCh38] Chr2:32476575 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.734T>A (p.Phe245Tyr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001232532]	Chr2:32251130 [GRCh38] Chr2:32476199 [GRCh37] Chr2:2p22.3	uncertain significance
GRCh37/hg19 2p22.3(chr2:32269694-32457939)x1	copy number loss	not provided [RCV001259146]	Chr2:32269694..32457939 [GRCh37] Chr2:2p22.3	pathogenic
Single allele	deletion	Spastic paraplegia [RCV001267824]	Chr2:32323584..32958959 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.627G>C (p.Gln209His)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001325376]	Chr2:32251237 [GRCh38] Chr2:32476306 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1134T>G (p.His378Gln)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001351046]	Chr2:32250730 [GRCh38] Chr2:32475799 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.652G>A (p.Asp218Asn)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001342154]	Chr2:32251212 [GRCh38] Chr2:32476281 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.443G>A (p.Arg148His)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001317565]	Chr2:32251421 [GRCh38] Chr2:32476490 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1090C>T (p.His364Tyr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001295569]	Chr2:32250774 [GRCh38] Chr2:32475843 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1738C>G (p.Gln580Glu)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001338680]	Chr2:32250126 [GRCh38] Chr2:32475195 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1488del (p.Ser497fs)	deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001316911]	Chr2:32250376 [GRCh38] Chr2:32475445 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1162C>T (p.Arg388Trp)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001301892]	Chr2:32250702 [GRCh38] Chr2:32475771 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2232T>G (p.His744Gln)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001342555]	Chr2:32249632 [GRCh38] Chr2:32474701 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.598G>A (p.Val200Ile)	single nucleotide variant	NLRC4-related disorder [RCV003405529]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001309366]	Chr2:32251266 [GRCh38] Chr2:32476335 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1754A>C (p.Tyr585Ser)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001321863]	Chr2:32250110 [GRCh38] Chr2:32475179 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1147G>C (p.Ala383Pro)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001313608]	Chr2:32250717 [GRCh38] Chr2:32475786 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2268_2271del (p.Asp757fs)	microsatellite	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002124489]\|not specified [RCV004700657]	Chr2:32241112..32241115 [GRCh38] Chr2:32466181..32466184 [GRCh37] Chr2:2p22.3	pathogenic\|likely benign
NM_001199138.2(NLRC4):c.1075_1076del (p.Gln359fs)	microsatellite	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001304695]	Chr2:32250788..32250789 [GRCh38] Chr2:32475857..32475858 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1769A>G (p.Asn590Ser)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001372426]	Chr2:32250095 [GRCh38] Chr2:32475164 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1934C>T (p.Pro645Leu)	single nucleotide variant	Inborn genetic diseases [RCV003169805]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001361706]	Chr2:32249930 [GRCh38] Chr2:32474999 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.741_742insTTTTTTTTTTNNNNNNNNNNGGGAGACCGTGGAGGGAGACGGAGACGGAGACGGAGACGGAGACGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGTTCTTTTCCTTCTT (p.Leu247_Asp248insPhePhePheXaaXaaXaaXaaGlyAspArgGlyGlyArgArgArgArgArgArgArgArgArgArgArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgGlyArgValLeuPheLeuLeu)	microsatellite	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001367771]	Chr2:32251122..32251123 [GRCh38] Chr2:32476191..32476192 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1691A>C (p.Glu564Ala)	single nucleotide variant	not provided [RCV001787499]	Chr2:32250173 [GRCh38] Chr2:32475242 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.542_543delinsAC (p.Arg181His)	indel	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001370758]	Chr2:32251321..32251322 [GRCh38] Chr2:32476390..32476391 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.781A>T (p.Ile261Phe)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001370803]	Chr2:32251083 [GRCh38] Chr2:32476152 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1778A>G (p.Asp593Gly)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001372894]	Chr2:32250086 [GRCh38] Chr2:32475155 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.88del (p.Trp30fs)	deletion	NLRC4-related disorder [RCV003416262]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001361196]	Chr2:32252593 [GRCh38] Chr2:32477662 [GRCh37] Chr2:2p22.3	likely benign\|uncertain significance
NM_001199138.2(NLRC4):c.445G>A (p.Val149Met)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001343419]	Chr2:32251419 [GRCh38] Chr2:32476488 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.436C>T (p.His146Tyr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001364667]	Chr2:32251428 [GRCh38] Chr2:32476497 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1877del (p.Lys626fs)	deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001371161]	Chr2:32249987 [GRCh38] Chr2:32475056 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.541C>T (p.Arg181Ter)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001362886]	Chr2:32251323 [GRCh38] Chr2:32476392 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.327_329del (p.His110del)	deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001323983]	Chr2:32251535..32251537 [GRCh38] Chr2:32476604..32476606 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1551C>A (p.Cys517Ter)	single nucleotide variant	Familial cold autoinflammatory syndrome 4 [RCV001329845]	Chr2:32250313 [GRCh38] Chr2:32475382 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.3075A>G (p.Ter1025=)	single nucleotide variant	Autoinflammation with infantile enterocolitis [RCV001334128]	Chr2:32224473 [GRCh38] Chr2:32449542 [GRCh37] Chr2:2p22.3	pathogenic
NM_001199138.2(NLRC4):c.312T>G (p.Asp104Glu)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002543583]\|not provided [RCV001311918]	Chr2:32251552 [GRCh38] Chr2:32476621 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.26G>A (p.Arg9Gln)	single nucleotide variant	Inborn genetic diseases [RCV004035010]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001320595]	Chr2:32252655 [GRCh38] Chr2:32477724 [GRCh37] Chr2:2p22.3	likely benign\|uncertain significance
NM_001199138.2(NLRC4):c.1156T>C (p.Phe386Leu)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001322229]	Chr2:32250708 [GRCh38] Chr2:32475777 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1624G>A (p.Glu542Lys)	single nucleotide variant	Autoinflammatory syndrome [RCV002264272]\|Inborn genetic diseases [RCV003346497]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001342715]	Chr2:32250240 [GRCh38] Chr2:32475309 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.419G>A (p.Trp140Ter)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001320876]	Chr2:32251445 [GRCh38] Chr2:32476514 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2560_2564del (p.Asp854fs)	deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001340134]	Chr2:32236297..32236301 [GRCh38] Chr2:32461366..32461370 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2386T>C (p.Phe796Leu)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001307186]	Chr2:32238267 [GRCh38] Chr2:32463336 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1082C>T (p.Thr361Met)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001298816]	Chr2:32250782 [GRCh38] Chr2:32475851 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1441_1449del (p.Ser481_Ile483del)	deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001340309]	Chr2:32250415..32250423 [GRCh38] Chr2:32475484..32475492 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2258-8T>C	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001413785]	Chr2:32241133 [GRCh38] Chr2:32466202 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.757T>C (p.Phe253Leu)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001296298]	Chr2:32251107 [GRCh38] Chr2:32476176 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1021G>C (p.Val341Leu)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001270834]\|not provided [RCV001587311]	Chr2:32250843 [GRCh38] Chr2:32475912 [GRCh37] Chr2:2p22.3	pathogenic
NM_001199138.2(NLRC4):c.207T>C (p.Phe69=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001412435]	Chr2:32252474 [GRCh38] Chr2:32477543 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1918C>T (p.Pro640Ser)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001360810]	Chr2:32249946 [GRCh38] Chr2:32475015 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.999T>C (p.Asn333=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001412903]	Chr2:32250865 [GRCh38] Chr2:32475934 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2375A>G (p.Lys792Arg)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001326159]	Chr2:32238278 [GRCh38] Chr2:32463347 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.199A>C (p.Asn67His)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001502331]	Chr2:32252482 [GRCh38] Chr2:32477551 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2721A>G (p.Pro907=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001490398]	Chr2:32235462 [GRCh38] Chr2:32460531 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.201C>T (p.Asn67=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001454785]	Chr2:32252480 [GRCh38] Chr2:32477549 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.603C>T (p.Phe201=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001458938]	Chr2:32251261 [GRCh38] Chr2:32476330 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2522-13dup	duplication	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001510921]	Chr2:32236345..32236346 [GRCh38] Chr2:32461414..32461415 [GRCh37] Chr2:2p22.3	benign
NM_001199138.2(NLRC4):c.480T>C (p.Ala160=)	single nucleotide variant	Autoinflammatory syndrome [RCV002264347]\|NLRC4-related disorder [RCV003900660]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001480042]	Chr2:32251384 [GRCh38] Chr2:32476453 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1164G>C (p.Arg388=)	single nucleotide variant	Autoinflammatory syndrome [RCV002264333]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001455360]	Chr2:32250700 [GRCh38] Chr2:32475769 [GRCh37] Chr2:2p22.3	likely benign\|uncertain significance
NM_001199138.2(NLRC4):c.1014T>C (p.Pro338=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001426205]	Chr2:32250850 [GRCh38] Chr2:32475919 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.262+8T>A	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001503417]	Chr2:32252411 [GRCh38] Chr2:32477480 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2592A>G (p.Gly864=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001453056]	Chr2:32236269 [GRCh38] Chr2:32461338 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.951T>A (p.Leu317=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001472496]	Chr2:32250913 [GRCh38] Chr2:32475982 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1545C>T (p.His515=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001439526]	Chr2:32250319 [GRCh38] Chr2:32475388 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1476G>T (p.Arg492=)	single nucleotide variant	Autoinflammatory syndrome [RCV002264315]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001432383]	Chr2:32250388 [GRCh38] Chr2:32475457 [GRCh37] Chr2:2p22.3	likely benign\|uncertain significance
NM_001199138.2(NLRC4):c.772T>C (p.Cys258Arg)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001873776]\|not provided [RCV001532396]	Chr2:32251092 [GRCh38] Chr2:32476161 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2177T>C (p.Ile726Thr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001435904]\|not provided [RCV003883641]	Chr2:32249687 [GRCh38] Chr2:32474756 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.105C>T (p.Arg35=)	single nucleotide variant	Autoinflammatory syndrome [RCV002264320]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001436076]	Chr2:32252576 [GRCh38] Chr2:32477645 [GRCh37] Chr2:2p22.3	likely benign\|uncertain significance
NM_001199138.2(NLRC4):c.249C>T (p.Asp83=)	single nucleotide variant	Autoinflammatory syndrome [RCV002264321]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001444468]\|not provided [RCV003334053]	Chr2:32252432 [GRCh38] Chr2:32477501 [GRCh37] Chr2:2p22.3	likely benign\|uncertain significance
NM_001199138.2(NLRC4):c.263-9C>T	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001429008]	Chr2:32251610 [GRCh38] Chr2:32476679 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.208C>T (p.Leu70Phe)	single nucleotide variant	NLRC4-related disorder [RCV003946067]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001406076]	Chr2:32252473 [GRCh38] Chr2:32477542 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1386T>C (p.His462=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001418145]	Chr2:32250478 [GRCh38] Chr2:32475547 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2391T>C (p.His797=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001411484]	Chr2:32238262 [GRCh38] Chr2:32463331 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.298G>A (p.Asp100Asn)	single nucleotide variant	Inborn genetic diseases [RCV004038563]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001457772]	Chr2:32251566 [GRCh38] Chr2:32476635 [GRCh37] Chr2:2p22.3	likely benign\|uncertain significance
NM_001199138.2(NLRC4):c.2649A>G (p.Ala883=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001459600]	Chr2:32235534 [GRCh38] Chr2:32460603 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2350+9T>C	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001517223]	Chr2:32241024 [GRCh38] Chr2:32466093 [GRCh37] Chr2:2p22.3	benign
NM_001199138.2(NLRC4):c.2257+10A>G	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001487663]	Chr2:32249597 [GRCh38] Chr2:32474666 [GRCh37] Chr2:2p22.3	likely benign
GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	copy number gain	See cases [RCV001581099]	Chr2:24601818..43466284 [GRCh37] Chr2:2p23.3-21	pathogenic
NM_001199138.2(NLRC4):c.2783-48_2783-46dup	duplication	not provided [RCV001674135]\|not specified [RCV003394199]	Chr2:32224810..32224811 [GRCh38] Chr2:32449879..32449880 [GRCh37] Chr2:2p22.3	benign
NM_001199138.2(NLRC4):c.1467C>T (p.Ser489=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001460580]	Chr2:32250397 [GRCh38] Chr2:32475466 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2522-86_2522-85insG	insertion	not provided [RCV001688037]\|not specified [RCV003401619]	Chr2:32236424..32236425 [GRCh38] Chr2:32461493..32461494 [GRCh37] Chr2:2p22.3	benign
NM_001199138.2(NLRC4):c.126C>T (p.Cys42=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001501428]	Chr2:32252555 [GRCh38] Chr2:32477624 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2957A>G (p.Lys986Arg)	single nucleotide variant	Autoinflammatory syndrome [RCV002264339]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001472041]	Chr2:32224591 [GRCh38] Chr2:32449660 [GRCh37] Chr2:2p22.3	likely benign\|uncertain significance
NM_001199138.2(NLRC4):c.753T>C (p.Asn251=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001468893]	Chr2:32251111 [GRCh38] Chr2:32476180 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2631G>C (p.Val877=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001513192]	Chr2:32235552 [GRCh38] Chr2:32460621 [GRCh37] Chr2:2p22.3	benign
NM_001199138.2(NLRC4):c.915_943del (p.Gln306fs)	deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001462775]	Chr2:32250921..32250949 [GRCh38] Chr2:32475990..32476018 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1665A>G (p.Val555=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001469116]	Chr2:32250199 [GRCh38] Chr2:32475268 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2835G>A (p.Ala945=)	single nucleotide variant	Autoinflammatory syndrome [RCV002264335]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001459754]	Chr2:32224713 [GRCh38] Chr2:32449782 [GRCh37] Chr2:2p22.3	likely benign\|uncertain significance
NM_001199138.2(NLRC4):c.263-15C>A	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001476037]	Chr2:32251616 [GRCh38] Chr2:32476685 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2614+12A>T	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001517547]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001732199]\|not provided [RCV001729933]	Chr2:32236235 [GRCh38] Chr2:32461304 [GRCh37] Chr2:2p22.3	benign\|likely benign
NM_001199138.2(NLRC4):c.2-8C>G	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001466415]	Chr2:32252687 [GRCh38] Chr2:32477756 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.822G>C (p.Met274Ile)	single nucleotide variant	Inborn genetic diseases [RCV004038249]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001427813]	Chr2:32251042 [GRCh38] Chr2:32476111 [GRCh37] Chr2:2p22.3	likely benign\|uncertain significance
NM_001199138.2(NLRC4):c.2802C>T (p.Asn934=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001430344]	Chr2:32224746 [GRCh38] Chr2:32449815 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.855G>A (p.Arg285=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001479355]	Chr2:32251009 [GRCh38] Chr2:32476078 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1323C>T (p.Phe441=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001472051]\|not provided [RCV004711668]	Chr2:32250541 [GRCh38] Chr2:32475610 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1666_1696del (p.Glu556fs)	deletion	not provided [RCV001727132]	Chr2:32250168..32250198 [GRCh38] Chr2:32475237..32475267 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2258-3C>G	single nucleotide variant	not provided [RCV001727131]	Chr2:32241128 [GRCh38] Chr2:32466197 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1016T>C (p.Leu339Pro)	single nucleotide variant	Familial cold autoinflammatory syndrome 4 [RCV001730172]	Chr2:32250848 [GRCh38] Chr2:32475917 [GRCh37] Chr2:2p22.3	pathogenic
NM_001199138.2(NLRC4):c.2662T>C (p.Trp888Arg)	single nucleotide variant	NLRC4-related disorder [RCV003900860]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001882842]\|not provided [RCV001751867]	Chr2:32235521 [GRCh38] Chr2:32460590 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2793dup (p.Gly932fs)	duplication	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001882819]\|not provided [RCV001756463]	Chr2:32224754..32224755 [GRCh38] Chr2:32449823..32449824 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1017C>G (p.Leu339=)	single nucleotide variant	not provided [RCV001815881]	Chr2:32250847 [GRCh38] Chr2:32475916 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1533A>C (p.Ala511=)	single nucleotide variant	not provided [RCV004809261]	Chr2:32250331 [GRCh38] Chr2:32475400 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1+5G>T	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001964389]	Chr2:32256770 [GRCh38] Chr2:32481839 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2924A>G (p.Lys975Arg)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001913126]	Chr2:32224624 [GRCh38] Chr2:32449693 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.704T>C (p.Met235Thr)	single nucleotide variant	Autoinflammatory syndrome [RCV002264427]\|Inborn genetic diseases [RCV003375437]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001928506]	Chr2:32251160 [GRCh38] Chr2:32476229 [GRCh37] Chr2:2p22.3	likely benign\|uncertain significance
NM_001199138.2(NLRC4):c.2533C>T (p.His845Tyr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001894424]	Chr2:32236328 [GRCh38] Chr2:32461397 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2672_2674del (p.Asp891del)	deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001986567]	Chr2:32235509..32235511 [GRCh38] Chr2:32460578..32460580 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.829G>A (p.Val277Ile)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002045057]	Chr2:32251035 [GRCh38] Chr2:32476104 [GRCh37] Chr2:2p22.3	uncertain significance
NC_000002.11:g.(?_31558824)_(32481844_?)dup	duplication	Hereditary spastic paraplegia 4 [RCV001871077]	Chr2:31558824..32481844 [GRCh37] Chr2:2p23.1-22.3	uncertain significance
NM_001199138.2(NLRC4):c.2713del (p.Glu905fs)	deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001971517]	Chr2:32235470 [GRCh38] Chr2:32460539 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.733T>G (p.Phe245Val)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001926558]	Chr2:32251131 [GRCh38] Chr2:32476200 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.97C>G (p.Leu33Val)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002005375]	Chr2:32252584 [GRCh38] Chr2:32477653 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.8T>C (p.Phe3Ser)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001968848]	Chr2:32252673 [GRCh38] Chr2:32477742 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.3004C>T (p.Leu1002Phe)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002041309]	Chr2:32224544 [GRCh38] Chr2:32449613 [GRCh37] Chr2:2p22.3	uncertain significance
NC_000002.11:g.(?_32474656)_(32481844_?)dup	duplication	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001912964]	Chr2:32474656..32481844 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1276C>A (p.Leu426Ile)	single nucleotide variant	Inborn genetic diseases [RCV004641727]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001870747]	Chr2:32250588 [GRCh38] Chr2:32475657 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1751del (p.Leu584fs)	deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001927460]	Chr2:32250113 [GRCh38] Chr2:32475182 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2100G>A (p.Val700=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002003964]	Chr2:32249764 [GRCh38] Chr2:32474833 [GRCh37] Chr2:2p22.3	likely benign\|uncertain significance
NM_001199138.2(NLRC4):c.2634_2642del (p.Glu879_Leu881del)	deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001983539]	Chr2:32235541..32235549 [GRCh38] Chr2:32460610..32460618 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1891A>G (p.Thr631Ala)	single nucleotide variant	Inborn genetic diseases [RCV004045324]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001983823]	Chr2:32249973 [GRCh38] Chr2:32475042 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1579C>A (p.Pro527Thr)	single nucleotide variant	Inborn genetic diseases [RCV004044008]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001910325]	Chr2:32250285 [GRCh38] Chr2:32475354 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1839A>C (p.Lys613Asn)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001926632]	Chr2:32250025 [GRCh38] Chr2:32475094 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.487A>G (p.Ser163Gly)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001968336]	Chr2:32251377 [GRCh38] Chr2:32476446 [GRCh37] Chr2:2p22.3	uncertain significance
NC_000002.11:g.(?_32288901)_(32481844_?)dup	duplication	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001946236]	Chr2:32288901..32481844 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1585_1586del (p.Trp529fs)	deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001892033]	Chr2:32250278..32250279 [GRCh38] Chr2:32475347..32475348 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.526T>A (p.Ser176Thr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001907866]	Chr2:32251338 [GRCh38] Chr2:32476407 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.701C>T (p.Ala234Val)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001894752]\|not provided [RCV004693831]	Chr2:32251163 [GRCh38] Chr2:32476232 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.577G>C (p.Ala193Pro)	single nucleotide variant	Inborn genetic diseases [RCV004651859]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001949206]	Chr2:32251287 [GRCh38] Chr2:32476356 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1683A>C (p.Leu561Phe)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002041557]	Chr2:32250181 [GRCh38] Chr2:32475250 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1183G>T (p.Asp395Tyr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002002881]	Chr2:32250681 [GRCh38] Chr2:32475750 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2830T>G (p.Leu944Val)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001928347]	Chr2:32224718 [GRCh38] Chr2:32449787 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1616del (p.Asn539fs)	deletion	Autoinflammatory syndrome [RCV002264424]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001913832]	Chr2:32250248 [GRCh38] Chr2:32475317 [GRCh37] Chr2:2p22.3	uncertain significance
GRCh37/hg19 2p23.2-21(chr2:29899368-42441440)	copy number loss	not specified [RCV002053089]	Chr2:29899368..42441440 [GRCh37] Chr2:2p23.2-21	pathogenic
NM_001199138.2(NLRC4):c.2927A>G (p.Glu976Gly)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001965559]	Chr2:32224621 [GRCh38] Chr2:32449690 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2665G>A (p.Gly889Ser)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001948026]	Chr2:32235518 [GRCh38] Chr2:32460587 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.773G>A (p.Cys258Tyr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001927670]	Chr2:32251091 [GRCh38] Chr2:32476160 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2614+1G>A	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002000777]	Chr2:32236246 [GRCh38] Chr2:32461315 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.271C>T (p.His91Tyr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001888493]	Chr2:32251593 [GRCh38] Chr2:32476662 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2378T>C (p.Met793Thr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001981775]	Chr2:32238275 [GRCh38] Chr2:32463344 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.73G>A (p.Asp25Asn)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001999592]	Chr2:32252608 [GRCh38] Chr2:32477677 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2802C>G (p.Asn934Lys)	single nucleotide variant	Autoinflammatory syndrome [RCV002264446]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002038203]	Chr2:32224746 [GRCh38] Chr2:32449815 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1824_1825delinsTG (p.Leu609Val)	indel	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002047236]	Chr2:32250039..32250040 [GRCh38] Chr2:32475108..32475109 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1175A>G (p.His392Arg)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001925118]	Chr2:32250689 [GRCh38] Chr2:32475758 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.489C>A (p.Ser163Arg)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002037172]	Chr2:32251375 [GRCh38] Chr2:32476444 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.176T>G (p.Leu59Trp)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001991769]	Chr2:32252505 [GRCh38] Chr2:32477574 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2071A>G (p.Arg691Gly)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002036836]	Chr2:32249793 [GRCh38] Chr2:32474862 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1331A>C (p.Lys444Thr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001941054]	Chr2:32250533 [GRCh38] Chr2:32475602 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1531G>A (p.Ala511Thr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001884062]	Chr2:32250333 [GRCh38] Chr2:32475402 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1478A>G (p.Tyr493Cys)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001916662]	Chr2:32250386 [GRCh38] Chr2:32475455 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2938G>C (p.Asp980His)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001974224]	Chr2:32224610 [GRCh38] Chr2:32449679 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2112_2113del (p.Ser705fs)	deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001955849]	Chr2:32249751..32249752 [GRCh38] Chr2:32474820..32474821 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2089T>G (p.Cys697Gly)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002049730]	Chr2:32249775 [GRCh38] Chr2:32474844 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.262+12T>G	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001955963]	Chr2:32252407 [GRCh38] Chr2:32477476 [GRCh37] Chr2:2p22.3	likely benign\|uncertain significance
NM_001199138.2(NLRC4):c.262+4A>T	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001901936]	Chr2:32252415 [GRCh38] Chr2:32477484 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.222G>C (p.Lys74Asn)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001919568]	Chr2:32252459 [GRCh38] Chr2:32477528 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2166T>G (p.Ser722Arg)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002048547]	Chr2:32249698 [GRCh38] Chr2:32474767 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.570G>C (p.Lys190Asn)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001994119]	Chr2:32251294 [GRCh38] Chr2:32476363 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1625A>T (p.Glu542Val)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002032338]	Chr2:32250239 [GRCh38] Chr2:32475308 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.261A>G (p.Gln87=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001898510]	Chr2:32252420 [GRCh38] Chr2:32477489 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.106G>A (p.Glu36Lys)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002031309]	Chr2:32252575 [GRCh38] Chr2:32477644 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2306T>C (p.Ile769Thr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002026504]	Chr2:32241077 [GRCh38] Chr2:32466146 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2582A>C (p.Glu861Ala)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002033258]	Chr2:32236279 [GRCh38] Chr2:32461348 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1764_1765del (p.Gly589fs)	deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001934678]	Chr2:32250099..32250100 [GRCh38] Chr2:32475168..32475169 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.610C>T (p.Arg204Cys)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001919058]	Chr2:32251254 [GRCh38] Chr2:32476323 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.136G>C (p.Val46Leu)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001956682]	Chr2:32252545 [GRCh38] Chr2:32477614 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.280T>C (p.Ser94Pro)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001882245]	Chr2:32251584 [GRCh38] Chr2:32476653 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.611G>A (p.Arg204His)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001952006]	Chr2:32251253 [GRCh38] Chr2:32476322 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2750G>A (p.Trp917Ter)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001933946]	Chr2:32235433 [GRCh38] Chr2:32460502 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.628G>T (p.Gly210Cys)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001998984]	Chr2:32251236 [GRCh38] Chr2:32476305 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.139G>A (p.Glu47Lys)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001875124]	Chr2:32252542 [GRCh38] Chr2:32477611 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1972G>C (p.Glu658Gln)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002035783]	Chr2:32249892 [GRCh38] Chr2:32474961 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1363C>T (p.Leu455Phe)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001878090]	Chr2:32250501 [GRCh38] Chr2:32475570 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.3025G>T (p.Asp1009Tyr)	single nucleotide variant	Inborn genetic diseases [RCV003264366]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001994259]	Chr2:32224523 [GRCh38] Chr2:32449592 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1535T>C (p.Val512Ala)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001977245]	Chr2:32250329 [GRCh38] Chr2:32475398 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2204T>C (p.Val735Ala)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001995142]	Chr2:32249660 [GRCh38] Chr2:32474729 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2822A>G (p.Gln941Arg)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001995238]	Chr2:32224726 [GRCh38] Chr2:32449795 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2041G>C (p.Gly681Arg)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001923049]	Chr2:32249823 [GRCh38] Chr2:32474892 [GRCh37] Chr2:2p22.3	uncertain significance
NC_000002.11:g.(?_32449542)_(32461428_?)dup	duplication	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001952785]	Chr2:32449542..32461428 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2614+6A>G	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002028036]	Chr2:32236241 [GRCh38] Chr2:32461310 [GRCh37] Chr2:2p22.3	uncertain significance
NC_000002.11:g.(?_32466082)_(32481844_?)dup	duplication	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001978421]	Chr2:32466082..32481844 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2522-7T>A	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001938524]	Chr2:32236346 [GRCh38] Chr2:32461415 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2434G>A (p.Val812Ile)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001939286]	Chr2:32238219 [GRCh38] Chr2:32463288 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2845G>C (p.Val949Leu)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001921549]	Chr2:32224703 [GRCh38] Chr2:32449772 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1099T>C (p.Tyr367His)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002015189]	Chr2:32250765 [GRCh38] Chr2:32475834 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.296A>G (p.Asp99Gly)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001875544]	Chr2:32251568 [GRCh38] Chr2:32476637 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.808C>T (p.Arg270Cys)	single nucleotide variant	Autoinflammatory syndrome [RCV002264401]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001866391]	Chr2:32251056 [GRCh38] Chr2:32476125 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1456A>G (p.Thr486Ala)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002032118]	Chr2:32250408 [GRCh38] Chr2:32475477 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1574A>G (p.Lys525Arg)	single nucleotide variant	Inborn genetic diseases [RCV004651895]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001976949]	Chr2:32250290 [GRCh38] Chr2:32475359 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1079C>T (p.Thr360Ile)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV001977027]	Chr2:32250785 [GRCh38] Chr2:32475854 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.263-12C>G	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002185888]	Chr2:32251613 [GRCh38] Chr2:32476682 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.263-20C>T	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002129929]	Chr2:32251621 [GRCh38] Chr2:32476690 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.816G>A (p.Lys272=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002166322]	Chr2:32251048 [GRCh38] Chr2:32476117 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.486G>A (p.Gln162=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002125923]	Chr2:32251378 [GRCh38] Chr2:32476447 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1902C>T (p.Ile634=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002110957]	Chr2:32249962 [GRCh38] Chr2:32475031 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2258-6T>C	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002186789]	Chr2:32241131 [GRCh38] Chr2:32466200 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1290T>C (p.Tyr430=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002091836]	Chr2:32250574 [GRCh38] Chr2:32475643 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2257+17T>C	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002072680]	Chr2:32249590 [GRCh38] Chr2:32474659 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1929C>T (p.Tyr643=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002188743]	Chr2:32249935 [GRCh38] Chr2:32475004 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2232T>C (p.His744=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002192242]	Chr2:32249632 [GRCh38] Chr2:32474701 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1776C>A (p.Pro592=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002126327]	Chr2:32250088 [GRCh38] Chr2:32475157 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1528G>A (p.Ala510Thr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002129632]\|not provided [RCV004793731]	Chr2:32250336 [GRCh38] Chr2:32475405 [GRCh37] Chr2:2p22.3	benign\|uncertain significance
NM_001199138.2(NLRC4):c.2350+9del	deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002192467]	Chr2:32241024 [GRCh38] Chr2:32466093 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2350+12G>C	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002108541]	Chr2:32241021 [GRCh38] Chr2:32466090 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2258-15T>G	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002087666]	Chr2:32241140 [GRCh38] Chr2:32466209 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1740A>G (p.Gln580=)	single nucleotide variant	NLRC4-related disorder [RCV003895821]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002124948]	Chr2:32250124 [GRCh38] Chr2:32475193 [GRCh37] Chr2:2p22.3	benign\|likely benign
NM_001199138.2(NLRC4):c.564C>T (p.Ser188=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002129354]	Chr2:32251300 [GRCh38] Chr2:32476369 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2607T>C (p.His869=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002109103]	Chr2:32236254 [GRCh38] Chr2:32461323 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2351-9A>C	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002148060]	Chr2:32238311 [GRCh38] Chr2:32463380 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2739G>A (p.Gly913=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002172369]	Chr2:32235444 [GRCh38] Chr2:32460513 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2970G>A (p.Val990=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002193459]	Chr2:32224578 [GRCh38] Chr2:32449647 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.909C>T (p.Asp303=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002095138]	Chr2:32250955 [GRCh38] Chr2:32476024 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2005T>A (p.Phe669Ile)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005209562]\|not provided [RCV002214145]	Chr2:32249859 [GRCh38] Chr2:32474928 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.315A>G (p.Leu105=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002216314]	Chr2:32251549 [GRCh38] Chr2:32476618 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2615-13_2615-12del	deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002115264]	Chr2:32235580..32235581 [GRCh38] Chr2:32460649..32460650 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.918G>A (p.Gln306=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002152922]	Chr2:32250946 [GRCh38] Chr2:32476015 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2091T>C (p.Cys697=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002076495]	Chr2:32249773 [GRCh38] Chr2:32474842 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2-11C>T	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002148096]	Chr2:32252690 [GRCh38] Chr2:32477759 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.262+20G>C	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002187627]	Chr2:32252399 [GRCh38] Chr2:32477468 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1+10T>A	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002212396]	Chr2:32256765 [GRCh38] Chr2:32481834 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1044G>A (p.Gln348=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002094389]	Chr2:32250820 [GRCh38] Chr2:32475889 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.186T>C (p.Gly62=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002080599]	Chr2:32252495 [GRCh38] Chr2:32477564 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1443G>A (p.Ser481=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002181021]	Chr2:32250421 [GRCh38] Chr2:32475490 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1272T>C (p.Thr424=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002197855]	Chr2:32250592 [GRCh38] Chr2:32475661 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.513T>G (p.Ser171=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002136033]	Chr2:32251351 [GRCh38] Chr2:32476420 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.837T>C (p.Thr279=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002102740]	Chr2:32251027 [GRCh38] Chr2:32476096 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.744T>C (p.Asp248=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002101024]	Chr2:32251120 [GRCh38] Chr2:32476189 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2257+20T>A	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002142978]	Chr2:32249587 [GRCh38] Chr2:32474656 [GRCh37] Chr2:2p22.3	benign
NM_001199138.2(NLRC4):c.411T>G (p.Pro137=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002156212]	Chr2:32251453 [GRCh38] Chr2:32476522 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2904G>C (p.Val968=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002161086]	Chr2:32224644 [GRCh38] Chr2:32449713 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1317T>C (p.Tyr439=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002142413]	Chr2:32250547 [GRCh38] Chr2:32475616 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.120C>A (p.Ile40=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002083161]	Chr2:32252561 [GRCh38] Chr2:32477630 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1254G>A (p.Glu418=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002200214]	Chr2:32250610 [GRCh38] Chr2:32475679 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1+11G>T	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002124141]	Chr2:32256764 [GRCh38] Chr2:32481833 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1878G>A (p.Lys626=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002198522]	Chr2:32249986 [GRCh38] Chr2:32475055 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1830C>T (p.Asp610=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002198798]	Chr2:32250034 [GRCh38] Chr2:32475103 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2782+18G>T	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003110407]	Chr2:32235383 [GRCh38] Chr2:32460452 [GRCh37] Chr2:2p22.3	likely benign
NC_000002.11:g.(?_32461296)_(32466214_?)del	deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003109827]	Chr2:32461296..32466214 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1321T>C (p.Phe441Leu)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003117934]	Chr2:32250543 [GRCh38] Chr2:32475612 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.687G>A (p.Lys229=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003121558]	Chr2:32251177 [GRCh38] Chr2:32476246 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1409_1410dup (p.Asn471fs)	duplication	Autoinflammatory syndrome [RCV002262084]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005225590]	Chr2:32250453..32250454 [GRCh38] Chr2:32475522..32475523 [GRCh37] Chr2:2p22.3	likely benign\|uncertain significance
NM_001199138.2(NLRC4):c.1630G>T (p.Glu544Ter)	single nucleotide variant	Autoinflammatory syndrome [RCV002262087]	Chr2:32250234 [GRCh38] Chr2:32475303 [GRCh37] Chr2:2p22.3	likely pathogenic
NM_001199138.2(NLRC4):c.1550G>C (p.Cys517Ser)	single nucleotide variant	Autoinflammatory syndrome [RCV002262085]\|Inborn genetic diseases [RCV003095941]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003774822]\|not provided [RCV003222408]	Chr2:32250314 [GRCh38] Chr2:32475383 [GRCh37] Chr2:2p22.3	likely benign\|uncertain significance
NM_001199138.2(NLRC4):c.2156T>C (p.Val719Ala)	single nucleotide variant	Autoinflammatory syndrome [RCV002262090]	Chr2:32249708 [GRCh38] Chr2:32474777 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.565G>A (p.Gly189Arg)	single nucleotide variant	Autoinflammatory syndrome [RCV002262104]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005225591]	Chr2:32251299 [GRCh38] Chr2:32476368 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2467G>A (p.Glu823Lys)	single nucleotide variant	Autoinflammatory syndrome [RCV002262094]	Chr2:32238186 [GRCh38] Chr2:32463255 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2828A>T (p.Asn943Ile)	single nucleotide variant	Autoinflammatory syndrome [RCV002262098]\|Familial cold autoinflammatory syndrome 4 [RCV004816990]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003448454]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005213638]	Chr2:32224720 [GRCh38] Chr2:32449789 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1302G>T (p.Arg434Ser)	single nucleotide variant	Autoinflammatory syndrome [RCV002262082]	Chr2:32250562 [GRCh38] Chr2:32475631 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.195C>A (p.Ser65=)	single nucleotide variant	Autoinflammatory syndrome [RCV002262089]	Chr2:32252486 [GRCh38] Chr2:32477555 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2196C>A (p.Ile732=)	single nucleotide variant	Autoinflammatory syndrome [RCV002262091]	Chr2:32249668 [GRCh38] Chr2:32474737 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2916T>C (p.Phe972=)	single nucleotide variant	Autoinflammatory syndrome [RCV002262099]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003101480]	Chr2:32224632 [GRCh38] Chr2:32449701 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.551T>C (p.Met184Thr)	single nucleotide variant	Autoinflammatory syndrome [RCV002262103]	Chr2:32251313 [GRCh38] Chr2:32476382 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1569C>A (p.Ile523=)	single nucleotide variant	Autoinflammatory syndrome [RCV002262086]	Chr2:32250295 [GRCh38] Chr2:32475364 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.-10A>T	single nucleotide variant	Autoinflammatory syndrome [RCV002262079]	Chr2:32256785 [GRCh38] Chr2:32481854 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1379C>T (p.Thr460Met)	single nucleotide variant	Autoinflammatory syndrome [RCV002262083]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003774821]	Chr2:32250485 [GRCh38] Chr2:32475554 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.21T>G (p.Asn7Lys)	single nucleotide variant	Autoinflammatory syndrome [RCV002262092]	Chr2:32252660 [GRCh38] Chr2:32477729 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2659C>A (p.Pro887Thr)	single nucleotide variant	Autoinflammatory syndrome [RCV002262095]	Chr2:32235524 [GRCh38] Chr2:32460593 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2668T>A (p.Cys890Ser)	single nucleotide variant	Autoinflammatory syndrome [RCV002262096]	Chr2:32235515 [GRCh38] Chr2:32460584 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.459C>G (p.Thr153=)	single nucleotide variant	Autoinflammatory syndrome [RCV002262101]	Chr2:32251405 [GRCh38] Chr2:32476474 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.-48A>G	single nucleotide variant	Autoinflammatory syndrome [RCV002262102]	Chr2:32256823 [GRCh38] Chr2:32481892 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.597C>T (p.Phe199=)	single nucleotide variant	Autoinflammatory syndrome [RCV002262105]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003774823]	Chr2:32251267 [GRCh38] Chr2:32476336 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1015C>G (p.Leu339Val)	single nucleotide variant	Autoinflammatory syndrome [RCV002262078]	Chr2:32250849 [GRCh38] Chr2:32475918 [GRCh37] Chr2:2p22.3	likely pathogenic
NM_001199138.2(NLRC4):c.114A>G (p.Val38=)	single nucleotide variant	Autoinflammatory syndrome [RCV002262080]	Chr2:32252567 [GRCh38] Chr2:32477636 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1724T>C (p.Phe575Ser)	single nucleotide variant	Autoinflammatory syndrome [RCV002262088]	Chr2:32250140 [GRCh38] Chr2:32475209 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2255C>A (p.Pro752Gln)	single nucleotide variant	Autoinflammatory syndrome [RCV002262093]	Chr2:32249609 [GRCh38] Chr2:32474678 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.333C>G (p.Thr111=)	single nucleotide variant	Autoinflammatory syndrome [RCV002262100]	Chr2:32251531 [GRCh38] Chr2:32476600 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.763C>T (p.Pro255Ser)	single nucleotide variant	Autoinflammatory syndrome [RCV002262107]	Chr2:32251101 [GRCh38] Chr2:32476170 [GRCh37] Chr2:2p22.3	uncertain significance
GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	copy number loss	See cases [RCV002287563]	Chr2:11504318..111365996 [GRCh37] Chr2:2p25.1-q13	pathogenic
NM_001199138.2(NLRC4):c.1225G>A (p.Glu409Lys)	single nucleotide variant	Autoinflammatory syndrome [RCV002262081]	Chr2:32250639 [GRCh38] Chr2:32475708 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2716G>A (p.Val906Ile)	single nucleotide variant	Autoinflammatory syndrome [RCV002262097]\|Inborn genetic diseases [RCV004047427]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003095942]	Chr2:32235467 [GRCh38] Chr2:32460536 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.648C>A (p.Leu216=)	single nucleotide variant	Autoinflammatory syndrome [RCV002262106]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003774824]	Chr2:32251216 [GRCh38] Chr2:32476285 [GRCh37] Chr2:2p22.3	likely benign\|uncertain significance
NM_001199138.2(NLRC4):c.881C>T (p.Thr294Ile)	single nucleotide variant	Autoinflammatory syndrome [RCV002262108]	Chr2:32250983 [GRCh38] Chr2:32476052 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1637T>G (p.Leu546Arg)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002297254]	Chr2:32250227 [GRCh38] Chr2:32475296 [GRCh37] Chr2:2p22.3	uncertain significance
GRCh37/hg19 2p22.3(chr2:32194952-32826745)x4	copy number gain	not provided [RCV002473855]	Chr2:32194952..32826745 [GRCh37] Chr2:2p22.3	uncertain significance
GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	copy number gain	not provided [RCV002473946]	Chr2:706460..35523639 [GRCh37] Chr2:2p25.3-22.3	pathogenic
NM_001199138.2(NLRC4):c.2231A>G (p.His744Arg)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002295392]	Chr2:32249633 [GRCh38] Chr2:32474702 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1779T>G (p.Asp593Glu)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002302095]	Chr2:32250085 [GRCh38] Chr2:32475154 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2545A>C (p.Lys849Gln)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002297875]	Chr2:32236316 [GRCh38] Chr2:32461385 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2789T>A (p.Phe930Tyr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002295081]	Chr2:32224759 [GRCh38] Chr2:32449828 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2099T>G (p.Val700Gly)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002614594]	Chr2:32249765 [GRCh38] Chr2:32474834 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.542_543delinsCC (p.Arg181Pro)	indel	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003013607]	Chr2:32251321..32251322 [GRCh38] Chr2:32476390..32476391 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1094C>A (p.Thr365Asn)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002816333]	Chr2:32250770 [GRCh38] Chr2:32475839 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.442C>T (p.Arg148Cys)	single nucleotide variant	Inborn genetic diseases [RCV002903207]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002903206]	Chr2:32251422 [GRCh38] Chr2:32476491 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2124C>T (p.Leu708=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002816180]	Chr2:32249740 [GRCh38] Chr2:32474809 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1426A>G (p.Lys476Glu)	single nucleotide variant	not provided [RCV002511962]	Chr2:32250438 [GRCh38] Chr2:32475507 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1020T>C (p.Phe340=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002756423]	Chr2:32250844 [GRCh38] Chr2:32475913 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2258-19A>G	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002756629]	Chr2:32241144 [GRCh38] Chr2:32466213 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1893del (p.Gly632fs)	deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003032839]	Chr2:32249971 [GRCh38] Chr2:32475040 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1023G>C (p.Val341=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002780175]	Chr2:32250841 [GRCh38] Chr2:32475910 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1852G>A (p.Gly618Arg)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003076142]	Chr2:32250012 [GRCh38] Chr2:32475081 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1367G>A (p.Ser456Asn)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002755691]	Chr2:32250497 [GRCh38] Chr2:32475566 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2678A>G (p.Gln893Arg)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002815155]	Chr2:32235505 [GRCh38] Chr2:32460574 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1776C>G (p.Pro592=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002842069]	Chr2:32250088 [GRCh38] Chr2:32475157 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2-6C>T	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003012435]	Chr2:32252685 [GRCh38] Chr2:32477754 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2501C>T (p.Ala834Val)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002730389]	Chr2:32238152 [GRCh38] Chr2:32463221 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1232A>C (p.Gln411Pro)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002904796]	Chr2:32250632 [GRCh38] Chr2:32475701 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1133A>G (p.His378Arg)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002838788]	Chr2:32250731 [GRCh38] Chr2:32475800 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.984C>G (p.Ser328=)	single nucleotide variant	not provided [RCV002511963]	Chr2:32250880 [GRCh38] Chr2:32475949 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1630G>C (p.Glu544Gln)	single nucleotide variant	not provided [RCV002511961]	Chr2:32250234 [GRCh38] Chr2:32475303 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2217A>G (p.Lys739=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002615768]	Chr2:32249647 [GRCh38] Chr2:32474716 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2782+19A>G	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002617833]	Chr2:32235382 [GRCh38] Chr2:32460451 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2350+18A>G	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003075787]	Chr2:32241015 [GRCh38] Chr2:32466084 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2222T>C (p.Leu741Ser)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002750886]	Chr2:32249642 [GRCh38] Chr2:32474711 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.740T>C (p.Leu247Pro)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003080434]	Chr2:32251124 [GRCh38] Chr2:32476193 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.297C>A (p.Asp99Glu)	single nucleotide variant	Inborn genetic diseases [RCV003269250]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002695955]	Chr2:32251567 [GRCh38] Chr2:32476636 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2037T>A (p.Tyr679Ter)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002871475]	Chr2:32249827 [GRCh38] Chr2:32474896 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.132G>A (p.Glu44=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003054770]	Chr2:32252549 [GRCh38] Chr2:32477618 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2244T>A (p.Asn748Lys)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003003007]	Chr2:32249620 [GRCh38] Chr2:32474689 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2616C>T (p.Ile872=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002621274]	Chr2:32235567 [GRCh38] Chr2:32460636 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1897_1899dup (p.Gly633_Ile634insGly)	duplication	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002975953]	Chr2:32249964..32249965 [GRCh38] Chr2:32475033..32475034 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2388T>C (p.Phe796=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003037934]	Chr2:32238265 [GRCh38] Chr2:32463334 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1461T>C (p.Tyr487=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002591390]	Chr2:32250403 [GRCh38] Chr2:32475472 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1270A>C (p.Thr424Pro)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002948716]	Chr2:32250594 [GRCh38] Chr2:32475663 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1941G>T (p.Arg647Ser)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002690727]	Chr2:32249923 [GRCh38] Chr2:32474992 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2257+20T>G	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003035837]	Chr2:32249587 [GRCh38] Chr2:32474656 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2804C>T (p.Pro935Leu)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002735136]	Chr2:32224744 [GRCh38] Chr2:32449813 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.612_613delinsAA (p.Leu205Ile)	indel	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002636463]	Chr2:32251251..32251252 [GRCh38] Chr2:32476320..32476321 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1395G>C (p.Glu465Asp)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003080161]	Chr2:32250469 [GRCh38] Chr2:32475538 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2478A>G (p.Gln826=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002975946]	Chr2:32238175 [GRCh38] Chr2:32463244 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.324G>C (p.Leu108Phe)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003100678]	Chr2:32251540 [GRCh38] Chr2:32476609 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2038C>G (p.Leu680Val)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002913042]	Chr2:32249826 [GRCh38] Chr2:32474895 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2326A>G (p.Asn776Asp)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002637276]	Chr2:32241057 [GRCh38] Chr2:32466126 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2700G>A (p.Leu900=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002570946]	Chr2:32235483 [GRCh38] Chr2:32460552 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1256A>C (p.Asp419Ala)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003038538]	Chr2:32250608 [GRCh38] Chr2:32475677 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1195G>A (p.Glu399Lys)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002889182]	Chr2:32250669 [GRCh38] Chr2:32475738 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1757T>C (p.Ile586Thr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003038224]	Chr2:32250107 [GRCh38] Chr2:32475176 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.964T>C (p.Leu322=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002780881]	Chr2:32250900 [GRCh38] Chr2:32475969 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2139C>T (p.Asn713=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002639803]	Chr2:32249725 [GRCh38] Chr2:32474794 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2865T>G (p.Leu955=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002866165]	Chr2:32224683 [GRCh38] Chr2:32449752 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1861A>G (p.Met621Val)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003052917]	Chr2:32250003 [GRCh38] Chr2:32475072 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.78C>T (p.Asp26=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002591049]	Chr2:32252603 [GRCh38] Chr2:32477672 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.719G>A (p.Arg240Gln)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003017923]	Chr2:32251145 [GRCh38] Chr2:32476214 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2908T>A (p.Phe970Ile)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002829917]	Chr2:32224640 [GRCh38] Chr2:32449709 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.634C>G (p.Leu212Val)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002800813]	Chr2:32251230 [GRCh38] Chr2:32476299 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2-2A>G	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002932142]	Chr2:32252681 [GRCh38] Chr2:32477750 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.81A>G (p.Leu27=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002594365]	Chr2:32252600 [GRCh38] Chr2:32477669 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1309C>A (p.Pro437Thr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003084987]	Chr2:32250555 [GRCh38] Chr2:32475624 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2450G>A (p.Ser817Asn)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002642457]	Chr2:32238203 [GRCh38] Chr2:32463272 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1894G>A (p.Gly632Ser)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002642630]	Chr2:32249970 [GRCh38] Chr2:32475039 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.3004C>A (p.Leu1002Ile)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003083451]	Chr2:32224544 [GRCh38] Chr2:32449613 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2876G>A (p.Gly959Asp)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002890389]	Chr2:32224672 [GRCh38] Chr2:32449741 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.374A>G (p.Asp125Gly)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002710295]	Chr2:32251490 [GRCh38] Chr2:32476559 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2720C>T (p.Pro907Leu)	single nucleotide variant	Inborn genetic diseases [RCV002915096]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005227850]	Chr2:32235463 [GRCh38] Chr2:32460532 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.784G>A (p.Glu262Lys)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002982598]	Chr2:32251080 [GRCh38] Chr2:32476149 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.541del (p.Arg181fs)	deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003022997]	Chr2:32251323 [GRCh38] Chr2:32476392 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1527C>T (p.Leu509=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002595209]	Chr2:32250337 [GRCh38] Chr2:32475406 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1364T>G (p.Leu455Arg)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002890871]	Chr2:32250500 [GRCh38] Chr2:32475569 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1466G>T (p.Ser489Ile)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003059664]	Chr2:32250398 [GRCh38] Chr2:32475467 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2548C>T (p.Leu850=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002625599]	Chr2:32236313 [GRCh38] Chr2:32461382 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1003A>C (p.Met335Leu)	single nucleotide variant	Inborn genetic diseases [RCV002875343]	Chr2:32250861 [GRCh38] Chr2:32475930 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2552G>A (p.Ser851Asn)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002575573]	Chr2:32236309 [GRCh38] Chr2:32461378 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1664T>C (p.Val555Ala)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003005738]	Chr2:32250200 [GRCh38] Chr2:32475269 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.576G>C (p.Lys192Asn)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002700648]	Chr2:32251288 [GRCh38] Chr2:32476357 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1558G>A (p.Gly520Arg)	single nucleotide variant	Inborn genetic diseases [RCV004654020]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002766266]	Chr2:32250306 [GRCh38] Chr2:32475375 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.633A>C (p.Gly211=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002575015]	Chr2:32251231 [GRCh38] Chr2:32476300 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1809C>T (p.Pro603=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002876046]	Chr2:32250055 [GRCh38] Chr2:32475124 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.705G>A (p.Met235Ile)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002939096]	Chr2:32251159 [GRCh38] Chr2:32476228 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1739A>C (p.Gln580Pro)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002810857]	Chr2:32250125 [GRCh38] Chr2:32475194 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2021A>C (p.Lys674Thr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002599294]	Chr2:32249843 [GRCh38] Chr2:32474912 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1460A>G (p.Tyr487Cys)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003048512]	Chr2:32250404 [GRCh38] Chr2:32475473 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2558T>C (p.Leu853Pro)	single nucleotide variant	Inborn genetic diseases [RCV002674594]	Chr2:32236303 [GRCh38] Chr2:32461372 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.862C>T (p.Arg288Trp)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002651184]	Chr2:32251002 [GRCh38] Chr2:32476071 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1754A>T (p.Tyr585Phe)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002647621]	Chr2:32250110 [GRCh38] Chr2:32475179 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1599T>C (p.Ser533=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002716271]	Chr2:32250265 [GRCh38] Chr2:32475334 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.713A>G (p.Lys238Arg)	single nucleotide variant	Inborn genetic diseases [RCV002934266]	Chr2:32251151 [GRCh38] Chr2:32476220 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2351-8T>G	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003029332]	Chr2:32238310 [GRCh38] Chr2:32463379 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1835T>C (p.Ile612Thr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003087677]	Chr2:32250029 [GRCh38] Chr2:32475098 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2085G>A (p.Lys695=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002650629]	Chr2:32249779 [GRCh38] Chr2:32474848 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1879G>A (p.Ala627Thr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002988531]	Chr2:32249985 [GRCh38] Chr2:32475054 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2714A>G (p.Glu905Gly)	single nucleotide variant	Inborn genetic diseases [RCV002920618]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003777948]	Chr2:32235469 [GRCh38] Chr2:32460538 [GRCh37] Chr2:2p22.3	likely benign\|uncertain significance
NM_001199138.2(NLRC4):c.1711C>G (p.Leu571Val)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003047434]	Chr2:32250153 [GRCh38] Chr2:32475222 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.920C>T (p.Ala307Val)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002579015]	Chr2:32250944 [GRCh38] Chr2:32476013 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1509G>A (p.Arg503=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002938005]	Chr2:32250355 [GRCh38] Chr2:32475424 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1360A>T (p.Arg454Ter)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002877515]	Chr2:32250504 [GRCh38] Chr2:32475573 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1432G>C (p.Val478Leu)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003089690]	Chr2:32250432 [GRCh38] Chr2:32475501 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2284T>C (p.Leu762=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002646273]	Chr2:32241099 [GRCh38] Chr2:32466168 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1027A>G (p.Ile343Val)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003008389]	Chr2:32250837 [GRCh38] Chr2:32475906 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.153T>C (p.Ala51=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002635077]	Chr2:32252528 [GRCh38] Chr2:32477597 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2202T>A (p.Ser734=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003052470]	Chr2:32249662 [GRCh38] Chr2:32474731 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.301T>C (p.Leu101=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002583245]	Chr2:32251563 [GRCh38] Chr2:32476632 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.833C>T (p.Thr278Ile)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003066618]	Chr2:32251031 [GRCh38] Chr2:32476100 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1203_1204del (p.Phe402fs)	microsatellite	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002604608]	Chr2:32250660..32250661 [GRCh38] Chr2:32475729..32475730 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2350+15C>A	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003066158]	Chr2:32241018 [GRCh38] Chr2:32466087 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1699T>C (p.Ser567Pro)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002814725]	Chr2:32250165 [GRCh38] Chr2:32475234 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.307C>T (p.Gln103Ter)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002585855]	Chr2:32251557 [GRCh38] Chr2:32476626 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.415C>T (p.Leu139=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003072924]	Chr2:32251449 [GRCh38] Chr2:32476518 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2089T>A (p.Cys697Ser)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002586195]	Chr2:32249775 [GRCh38] Chr2:32474844 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.241T>C (p.Phe81Leu)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003072205]	Chr2:32252440 [GRCh38] Chr2:32477509 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.679A>G (p.Ile227Val)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003071168]	Chr2:32251185 [GRCh38] Chr2:32476254 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2691C>T (p.Ser897=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003050250]	Chr2:32235492 [GRCh38] Chr2:32460561 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2875G>A (p.Gly959Ser)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002610953]	Chr2:32224673 [GRCh38] Chr2:32449742 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.645C>T (p.Thr215=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002611089]	Chr2:32251219 [GRCh38] Chr2:32476288 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2715G>A (p.Glu905=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV002680854]	Chr2:32235468 [GRCh38] Chr2:32460537 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.21T>C (p.Asn7=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003070087]	Chr2:32252660 [GRCh38] Chr2:32477729 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2318T>C (p.Ile773Thr)	single nucleotide variant	not provided [RCV003223019]	Chr2:32241065 [GRCh38] Chr2:32466134 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2177T>G (p.Ile726Arg)	single nucleotide variant	not provided [RCV003223020]	Chr2:32249687 [GRCh38] Chr2:32474756 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1035T>C (p.Cys345=)	single nucleotide variant	not provided [RCV003223021]	Chr2:32250829 [GRCh38] Chr2:32475898 [GRCh37] Chr2:2p22.3	likely benign
GRCh37/hg19 2p22.3(chr2:32466102-32466194)x1	copy number loss	not provided [RCV003223076]	Chr2:32466102..32466194 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1554T>C (p.Leu518=)	single nucleotide variant	Familial cold autoinflammatory syndrome 4 [RCV003140622]	Chr2:32250310 [GRCh38] Chr2:32475379 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.805C>T (p.His269Tyr)	single nucleotide variant	Familial cold autoinflammatory syndrome 4 [RCV003225840]	Chr2:32251059 [GRCh38] Chr2:32476128 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.904G>C (p.Glu302Gln)	single nucleotide variant	not provided [RCV003133036]	Chr2:32250960 [GRCh38] Chr2:32476029 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1798G>T (p.Glu600Ter)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003778735]\|not provided [RCV003133035]	Chr2:32250066 [GRCh38] Chr2:32475135 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2350+36dup	duplication	not provided [RCV003223018]	Chr2:32240996..32240997 [GRCh38] Chr2:32466065..32466066 [GRCh37] Chr2:2p22.3	benign\|likely benign
NM_001199138.2(NLRC4):c.542G>A (p.Arg181Gln)	single nucleotide variant	not provided [RCV003223022]	Chr2:32251322 [GRCh38] Chr2:32476391 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1348A>C (p.Thr450Pro)	single nucleotide variant	Inborn genetic diseases [RCV003208281]	Chr2:32250516 [GRCh38] Chr2:32475585 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1807C>T (p.Pro603Ser)	single nucleotide variant	not provided [RCV003329836]	Chr2:32250057 [GRCh38] Chr2:32475126 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2945C>T (p.Ala982Val)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005209612]\|not provided [RCV003327025]	Chr2:32224603 [GRCh38] Chr2:32449672 [GRCh37] Chr2:2p22.3	likely benign\|uncertain significance
NM_001199138.2(NLRC4):c.1652T>G (p.Ile551Ser)	single nucleotide variant	Inborn genetic diseases [RCV003357352]	Chr2:32250212 [GRCh38] Chr2:32475281 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1561C>T (p.Leu521Phe)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003792233]	Chr2:32250303 [GRCh38] Chr2:32475372 [GRCh37] Chr2:2p22.3	uncertain significance
GRCh37/hg19 2p23.1-22.3(chr2:32083215-32684402)x1	copy number loss	not provided [RCV003484627]	Chr2:32083215..32684402 [GRCh37] Chr2:2p23.1-22.3	pathogenic
NM_001199138.2(NLRC4):c.430C>G (p.Gln144Glu)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003792136]	Chr2:32251434 [GRCh38] Chr2:32476503 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.-118-3C>G	single nucleotide variant	not provided [RCV003425570]	Chr2:32256896 [GRCh38] Chr2:32481965 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.967C>T (p.Leu323Phe)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003791429]	Chr2:32250897 [GRCh38] Chr2:32475966 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.561C>A (p.Gly187=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003778407]\|not provided [RCV003407195]	Chr2:32251303 [GRCh38] Chr2:32476372 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2908T>C (p.Phe970Leu)	single nucleotide variant	Familial cold autoinflammatory syndrome 4 [RCV003448830]	Chr2:32224640 [GRCh38] Chr2:32449709 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2521+12T>G	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003790991]	Chr2:32238120 [GRCh38] Chr2:32463189 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1+49A>T	single nucleotide variant	not specified [RCV003391181]	Chr2:32256726 [GRCh38] Chr2:32481795 [GRCh37] Chr2:2p22.3	benign
NM_001199138.2(NLRC4):c.1902C>G (p.Ile634Met)	single nucleotide variant	NLRC4-related disorder [RCV003412031]	Chr2:32249962 [GRCh38] Chr2:32475031 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.995G>C (p.Arg332Thr)	single nucleotide variant	not provided [RCV003425569]	Chr2:32250869 [GRCh38] Chr2:32475938 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2000G>A (p.Arg667Gln)	single nucleotide variant	NLRC4-related disorder [RCV003402839]	Chr2:32249864 [GRCh38] Chr2:32474933 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1171G>A (p.Asp391Asn)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003797414]	Chr2:32250693 [GRCh38] Chr2:32475762 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1245C>T (p.Ser415=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003781910]	Chr2:32250619 [GRCh38] Chr2:32475688 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1512T>C (p.Ala504=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003795065]	Chr2:32250352 [GRCh38] Chr2:32475421 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2325G>C (p.Met775Ile)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003807910]	Chr2:32241058 [GRCh38] Chr2:32466127 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2474T>G (p.Ile825Ser)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003781954]	Chr2:32238179 [GRCh38] Chr2:32463248 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2939A>T (p.Asp980Val)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003797470]	Chr2:32224609 [GRCh38] Chr2:32449678 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1244G>C (p.Ser415Thr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003792390]	Chr2:32250620 [GRCh38] Chr2:32475689 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2658G>A (p.Leu886=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003797618]	Chr2:32235525 [GRCh38] Chr2:32460594 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1798del (p.Glu600fs)	deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003785047]	Chr2:32250066 [GRCh38] Chr2:32475135 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2496G>A (p.Leu832=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003806562]	Chr2:32238157 [GRCh38] Chr2:32463226 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2656_2657delinsGG (p.Leu886Gly)	indel	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003797748]	Chr2:32235526..32235527 [GRCh38] Chr2:32460595..32460596 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2375A>T (p.Lys792Met)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003782475]	Chr2:32238278 [GRCh38] Chr2:32463347 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.416T>C (p.Leu139Pro)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003782556]	Chr2:32251448 [GRCh38] Chr2:32476517 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1680T>G (p.His560Gln)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003792902]	Chr2:32250184 [GRCh38] Chr2:32475253 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.263-3T>C	single nucleotide variant	not specified [RCV003490844]	Chr2:32251604 [GRCh38] Chr2:32476673 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1384C>T (p.His462Tyr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003797356]	Chr2:32250480 [GRCh38] Chr2:32475549 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1257T>A (p.Asp419Glu)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003792927]	Chr2:32250607 [GRCh38] Chr2:32475676 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.569A>G (p.Lys190Arg)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003805694]	Chr2:32251295 [GRCh38] Chr2:32476364 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.189A>C (p.Ser63=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003785461]	Chr2:32252492 [GRCh38] Chr2:32477561 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1758_1759insGGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGTCTCCCTCTCCCTCTCCCCGCCTCCCTCTCCCTCTCCCCGTCTCCCTCTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGCTTATATATC (p.Asn587fs)	insertion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003807735]	Chr2:32250105..32250106 [GRCh38] Chr2:32475174..32475175 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1252G>A (p.Glu418Lys)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003796964]	Chr2:32250612 [GRCh38] Chr2:32475681 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.608T>A (p.Leu203His)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003807071]	Chr2:32251256 [GRCh38] Chr2:32476325 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2672A>C (p.Asp891Ala)	single nucleotide variant	Inborn genetic diseases [RCV004953548]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003807881]	Chr2:32235511 [GRCh38] Chr2:32460580 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2309T>G (p.Met770Arg)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003808024]	Chr2:32241074 [GRCh38] Chr2:32466143 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2126G>A (p.Ser709Asn)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003807667]	Chr2:32249738 [GRCh38] Chr2:32474807 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1128C>G (p.His376Gln)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003784596]	Chr2:32250736 [GRCh38] Chr2:32475805 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1895G>A (p.Gly632Asp)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003805810]	Chr2:32249969 [GRCh38] Chr2:32475038 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2772T>C (p.Ile924=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003790267]	Chr2:32235411 [GRCh38] Chr2:32460480 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2615-20C>A	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003794347]	Chr2:32235588 [GRCh38] Chr2:32460657 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.585C>G (p.Thr195=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003795694]	Chr2:32251279 [GRCh38] Chr2:32476348 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1952T>C (p.Leu651Ser)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003804510]	Chr2:32249912 [GRCh38] Chr2:32474981 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2351C>G (p.Ala784Gly)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003805319]	Chr2:32238302 [GRCh38] Chr2:32463371 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2842C>T (p.Arg948Cys)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003791282]	Chr2:32224706 [GRCh38] Chr2:32449775 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2616C>A (p.Ile872=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003795141]	Chr2:32235567 [GRCh38] Chr2:32460636 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2688G>A (p.Leu896=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003793218]	Chr2:32235495 [GRCh38] Chr2:32460564 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1149A>C (p.Ala383=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003805739]	Chr2:32250715 [GRCh38] Chr2:32475784 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.852G>A (p.Leu284=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003791544]	Chr2:32251012 [GRCh38] Chr2:32476081 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1098C>T (p.Phe366=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003806923]	Chr2:32250766 [GRCh38] Chr2:32475835 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2600C>T (p.Ala867Val)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003804963]	Chr2:32236261 [GRCh38] Chr2:32461330 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1812T>G (p.Asn604Lys)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003794136]	Chr2:32250052 [GRCh38] Chr2:32475121 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.128G>A (p.Cys43Tyr)	single nucleotide variant	Inborn genetic diseases [RCV004953535]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003795443]	Chr2:32252553 [GRCh38] Chr2:32477622 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2522-11T>C	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003788642]	Chr2:32236350 [GRCh38] Chr2:32461419 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2614+7A>G	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003780027]	Chr2:32236240 [GRCh38] Chr2:32461309 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.459C>T (p.Thr153=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003797241]	Chr2:32251405 [GRCh38] Chr2:32476474 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2302C>T (p.Leu768Phe)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003789436]	Chr2:32241081 [GRCh38] Chr2:32466150 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2258-5G>C	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003795122]	Chr2:32241130 [GRCh38] Chr2:32466199 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2782+18G>A	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003797042]	Chr2:32235383 [GRCh38] Chr2:32460452 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2200T>C (p.Ser734Pro)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003782561]	Chr2:32249664 [GRCh38] Chr2:32474733 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.182del (p.Lys61fs)	deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003780151]	Chr2:32252499 [GRCh38] Chr2:32477568 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2900T>C (p.Leu967Ser)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003791110]	Chr2:32224648 [GRCh38] Chr2:32449717 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2782+9A>T	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003793066]	Chr2:32235392 [GRCh38] Chr2:32460461 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1706C>T (p.Ser569Leu)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003794732]	Chr2:32250158 [GRCh38] Chr2:32475227 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2826G>C (p.Leu942Phe)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003790205]	Chr2:32224722 [GRCh38] Chr2:32449791 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1874A>G (p.Glu625Gly)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003788130]	Chr2:32249990 [GRCh38] Chr2:32475059 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.893G>A (p.Gly298Glu)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003797129]	Chr2:32250971 [GRCh38] Chr2:32476040 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2030T>A (p.Ile677Asn)	single nucleotide variant	Inborn genetic diseases [RCV004654333]\|Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003783080]	Chr2:32249834 [GRCh38] Chr2:32474903 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2359C>G (p.Leu787Val)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003792003]	Chr2:32238294 [GRCh38] Chr2:32463363 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1170G>A (p.Leu390=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003781031]	Chr2:32250694 [GRCh38] Chr2:32475763 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1610T>C (p.Val537Ala)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003794424]	Chr2:32250254 [GRCh38] Chr2:32475323 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.380T>A (p.Ile127Asn)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003785096]	Chr2:32251484 [GRCh38] Chr2:32476553 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.456G>A (p.Leu152=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003796705]	Chr2:32251408 [GRCh38] Chr2:32476477 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2828A>G (p.Asn943Ser)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003794522]	Chr2:32224720 [GRCh38] Chr2:32449789 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1573A>G (p.Lys525Glu)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003781765]	Chr2:32250291 [GRCh38] Chr2:32475360 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1536G>C (p.Val512=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003791318]	Chr2:32250328 [GRCh38] Chr2:32475397 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1685A>G (p.Tyr562Cys)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003787343]	Chr2:32250179 [GRCh38] Chr2:32475248 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2313T>C (p.Asp771=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003783431]	Chr2:32241070 [GRCh38] Chr2:32466139 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2886G>A (p.Glu962=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003784078]	Chr2:32224662 [GRCh38] Chr2:32449731 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.730C>A (p.Leu244Ile)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003792219]	Chr2:32251134 [GRCh38] Chr2:32476203 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2334A>T (p.Glu778Asp)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003782090]	Chr2:32241049 [GRCh38] Chr2:32466118 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.768G>A (p.Gln256=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003790666]	Chr2:32251096 [GRCh38] Chr2:32476165 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1541A>C (p.Gln514Pro)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003779451]	Chr2:32250323 [GRCh38] Chr2:32475392 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1031C>T (p.Thr344Ile)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003813274]	Chr2:32250833 [GRCh38] Chr2:32475902 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.263-19A>G	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003798793]	Chr2:32251620 [GRCh38] Chr2:32476689 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1944T>C (p.Ala648=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003812569]	Chr2:32249920 [GRCh38] Chr2:32474989 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.318G>C (p.Lys106Asn)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003812573]	Chr2:32251546 [GRCh38] Chr2:32476615 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.52A>G (p.Thr18Ala)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003801049]	Chr2:32252629 [GRCh38] Chr2:32477698 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1067C>T (p.Ser356Phe)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003801193]	Chr2:32250797 [GRCh38] Chr2:32475866 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.262+10A>G	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003798076]	Chr2:32252409 [GRCh38] Chr2:32477478 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.265del (p.Leu89fs)	deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003800352]	Chr2:32251599 [GRCh38] Chr2:32476668 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.745G>A (p.Gly249Ser)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003813394]	Chr2:32251119 [GRCh38] Chr2:32476188 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1543C>T (p.His515Tyr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003800792]	Chr2:32250321 [GRCh38] Chr2:32475390 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1575G>T (p.Lys525Asn)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003809836]	Chr2:32250289 [GRCh38] Chr2:32475358 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2615T>A (p.Ile872Asn)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003808886]	Chr2:32235568 [GRCh38] Chr2:32460637 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2602C>T (p.Leu868Phe)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003800515]	Chr2:32236259 [GRCh38] Chr2:32461328 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1777G>A (p.Asp593Asn)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003798412]	Chr2:32250087 [GRCh38] Chr2:32475156 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2765_2766del (p.Thr922fs)	deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003799579]	Chr2:32235417..32235418 [GRCh38] Chr2:32460486..32460487 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2035T>C (p.Tyr679His)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003799628]	Chr2:32249829 [GRCh38] Chr2:32474898 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.331A>T (p.Thr111Ser)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003812772]	Chr2:32251533 [GRCh38] Chr2:32476602 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2669G>A (p.Cys890Tyr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003808908]	Chr2:32235514 [GRCh38] Chr2:32460583 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1331A>G (p.Lys444Arg)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003809446]	Chr2:32250533 [GRCh38] Chr2:32475602 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2043G>A (p.Gly681=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003809520]	Chr2:32249821 [GRCh38] Chr2:32474890 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1212C>G (p.His404Gln)	single nucleotide variant	Familial cold autoinflammatory syndrome 4 [RCV004577134]	Chr2:32250652 [GRCh38] Chr2:32475721 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.337T>C (p.Ser113Pro)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003797996]	Chr2:32251527 [GRCh38] Chr2:32476596 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1047G>A (p.Met349Ile)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003801679]	Chr2:32250817 [GRCh38] Chr2:32475886 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1925C>A (p.Thr642Asn)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003801682]	Chr2:32249939 [GRCh38] Chr2:32475008 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1444G>C (p.Asp482His)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003813271]	Chr2:32250420 [GRCh38] Chr2:32475489 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1982C>T (p.Thr661Ile)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003817721]	Chr2:32249882 [GRCh38] Chr2:32474951 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1155C>T (p.Asp385=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003815201]	Chr2:32250709 [GRCh38] Chr2:32475778 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2351-18C>T	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003799228]	Chr2:32238320 [GRCh38] Chr2:32463389 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.825C>A (p.Val275=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003808431]	Chr2:32251039 [GRCh38] Chr2:32476108 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1933C>T (p.Pro645Ser)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003801620]	Chr2:32249931 [GRCh38] Chr2:32475000 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.3070G>A (p.Ala1024Thr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003800544]	Chr2:32224478 [GRCh38] Chr2:32449547 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.292T>G (p.Leu98Val)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003800633]	Chr2:32251572 [GRCh38] Chr2:32476641 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2783-13T>A	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003815723]	Chr2:32224778 [GRCh38] Chr2:32449847 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2351-11T>C	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003798714]	Chr2:32238313 [GRCh38] Chr2:32463382 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.515G>A (p.Gly172Asp)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003813565]	Chr2:32251349 [GRCh38] Chr2:32476418 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.817A>T (p.Asn273Tyr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003800973]	Chr2:32251047 [GRCh38] Chr2:32476116 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.489C>G (p.Ser163Arg)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003808063]	Chr2:32251375 [GRCh38] Chr2:32476444 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2064A>G (p.Thr688=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003800052]	Chr2:32249800 [GRCh38] Chr2:32474869 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2617G>A (p.Asp873Asn)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003808492]	Chr2:32235566 [GRCh38] Chr2:32460635 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.3026A>G (p.Asp1009Gly)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003799621]	Chr2:32224522 [GRCh38] Chr2:32449591 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1625A>G (p.Glu542Gly)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003799257]	Chr2:32250239 [GRCh38] Chr2:32475308 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.944A>T (p.Lys315Met)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003813686]	Chr2:32250920 [GRCh38] Chr2:32475989 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.263-11T>C	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003798157]	Chr2:32251612 [GRCh38] Chr2:32476681 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2756T>A (p.Leu919His)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003802095]	Chr2:32235427 [GRCh38] Chr2:32460496 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.591C>T (p.Phe197=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003803386]	Chr2:32251273 [GRCh38] Chr2:32476342 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2111T>C (p.Leu704Pro)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003802646]	Chr2:32249753 [GRCh38] Chr2:32474822 [GRCh37] Chr2:2p22.3	uncertain significance
GRCh37/hg19 2p22.3(chr2:32437298-34106470)x1	copy number loss	not specified [RCV003986336]	Chr2:32437298..34106470 [GRCh37] Chr2:2p22.3	uncertain significance
GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1	copy number loss	not specified [RCV003986376]	Chr2:30814984..42798684 [GRCh37] Chr2:2p23.1-21	pathogenic
NM_001199138.2(NLRC4):c.1608T>C (p.Ser536=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003802919]	Chr2:32250256 [GRCh38] Chr2:32475325 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2105G>A (p.Gly702Glu)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV003802925]	Chr2:32249759 [GRCh38] Chr2:32474828 [GRCh37] Chr2:2p22.3	uncertain significance
GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	copy number gain	See cases [RCV004442780]	Chr2:12771..35541353 [GRCh37] Chr2:2p25.3-22.3	pathogenic
NM_001199138.2(NLRC4):c.2949A>C (p.Leu983Phe)	single nucleotide variant	NLRC4-related disorder [RCV003982571]	Chr2:32224599 [GRCh38] Chr2:32449668 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2457C>G (p.Pro819=)	single nucleotide variant	not provided [RCV003887046]	Chr2:32238196 [GRCh38] Chr2:32463265 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1273G>A (p.Gly425Arg)	single nucleotide variant	Inborn genetic diseases [RCV004493382]	Chr2:32250591 [GRCh38] Chr2:32475660 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2629G>T (p.Val877Leu)	single nucleotide variant	Inborn genetic diseases [RCV004493386]	Chr2:32235554 [GRCh38] Chr2:32460623 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2657T>G (p.Leu886Arg)	single nucleotide variant	Inborn genetic diseases [RCV004493388]	Chr2:32235526 [GRCh38] Chr2:32460595 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2501C>A (p.Ala834Glu)	single nucleotide variant	Inborn genetic diseases [RCV004493385]	Chr2:32238152 [GRCh38] Chr2:32463221 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2656C>G (p.Leu886Val)	single nucleotide variant	Inborn genetic diseases [RCV004493387]	Chr2:32235527 [GRCh38] Chr2:32460596 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1442C>T (p.Ser481Leu)	single nucleotide variant	Inborn genetic diseases [RCV004493383]	Chr2:32250422 [GRCh38] Chr2:32475491 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2278G>T (p.Gly760Cys)	single nucleotide variant	Inborn genetic diseases [RCV004493384]	Chr2:32241105 [GRCh38] Chr2:32466174 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.597C>G (p.Phe199Leu)	single nucleotide variant	Inborn genetic diseases [RCV004493389]	Chr2:32251267 [GRCh38] Chr2:32476336 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1790A>G (p.Asp597Gly)	single nucleotide variant	not specified [RCV003994811]	Chr2:32250074 [GRCh38] Chr2:32475143 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.390del (p.Ser132fs)	deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV004560171]	Chr2:32251474 [GRCh38] Chr2:32476543 [GRCh37] Chr2:2p22.3	likely pathogenic
NM_001199138.2(NLRC4):c.2846T>C (p.Val949Ala)	single nucleotide variant	not provided [RCV004590883]	Chr2:32224702 [GRCh38] Chr2:32449771 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.371T>A (p.Ile124Asn)	single nucleotide variant	Inborn genetic diseases [RCV004643796]	Chr2:32251493 [GRCh38] Chr2:32476562 [GRCh37] Chr2:2p22.3	uncertain significance
NC_000002.11:g.(?_32460450)_(32460657_?)del	deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV004583688]	Chr2:32460450..32460657 [GRCh37] Chr2:2p22.3	uncertain significance
NC_000002.11:g.(?_32288901)_(32449854_?)del	deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV004583689]	Chr2:32288901..32449854 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.994A>G (p.Arg332Gly)	single nucleotide variant	Inborn genetic diseases [RCV004647300]	Chr2:32250870 [GRCh38] Chr2:32475939 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.148G>T (p.Ala50Ser)	single nucleotide variant	Inborn genetic diseases [RCV004647301]	Chr2:32252533 [GRCh38] Chr2:32477602 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.113T>G (p.Val38Gly)	single nucleotide variant	Inborn genetic diseases [RCV004647302]	Chr2:32252568 [GRCh38] Chr2:32477637 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2173A>C (p.Thr725Pro)	single nucleotide variant	Inborn genetic diseases [RCV004643797]	Chr2:32249691 [GRCh38] Chr2:32474760 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.845A>G (p.Glu282Gly)	single nucleotide variant	NLRC4-related disorder [RCV004749012]	Chr2:32251019 [GRCh38] Chr2:32476088 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1025T>G (p.Val342Gly)	single nucleotide variant	not provided [RCV004795005]	Chr2:32250839 [GRCh38] Chr2:32475908 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.*13C>G	single nucleotide variant	not specified [RCV004703149]	Chr2:32224460 [GRCh38] Chr2:32449529 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1190C>G (p.Ala397Gly)	single nucleotide variant	Inborn genetic diseases [RCV004961821]	Chr2:32250674 [GRCh38] Chr2:32475743 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2507C>T (p.Ala836Val)	single nucleotide variant	Inborn genetic diseases [RCV004961819]	Chr2:32238146 [GRCh38] Chr2:32463215 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1693A>G (p.Ser565Gly)	single nucleotide variant	Inborn genetic diseases [RCV004961820]	Chr2:32250171 [GRCh38] Chr2:32475240 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.868T>A (p.Phe290Ile)	single nucleotide variant	Inborn genetic diseases [RCV004961822]	Chr2:32250996 [GRCh38] Chr2:32476065 [GRCh37] Chr2:2p22.3	uncertain significance
GRCh37/hg19 2p24.1-22.2(chr2:20938401-37327210)x3	copy number gain	not provided [RCV004819299]	Chr2:20938401..37327210 [GRCh37] Chr2:2p24.1-22.2	pathogenic
NM_001199138.2(NLRC4):c.2783-14dup	duplication	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005229196]	Chr2:32224778..32224779 [GRCh38] Chr2:32449847..32449848 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.969C>T (p.Leu323=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005214894]	Chr2:32250895 [GRCh38] Chr2:32475964 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.28G>T (p.Ala10Ser)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005214858]	Chr2:32252653 [GRCh38] Chr2:32477722 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.658C>G (p.Leu220Val)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005212999]	Chr2:32251206 [GRCh38] Chr2:32476275 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2673C>T (p.Asp891=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005214926]	Chr2:32235510 [GRCh38] Chr2:32460579 [GRCh37] Chr2:2p22.3	benign
NM_001199138.2(NLRC4):c.1276C>T (p.Leu426Phe)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005213174]	Chr2:32250588 [GRCh38] Chr2:32475657 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2258-11T>C	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005225736]	Chr2:32241136 [GRCh38] Chr2:32466205 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.594A>G (p.Lys198=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005215262]	Chr2:32251270 [GRCh38] Chr2:32476339 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1320A>G (p.Lys440=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005211177]	Chr2:32250544 [GRCh38] Chr2:32475613 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2521+1G>A	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005214103]	Chr2:32238131 [GRCh38] Chr2:32463200 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.703A>G (p.Met235Val)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005210687]	Chr2:32251161 [GRCh38] Chr2:32476230 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1104T>C (p.Asp368=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005211046]	Chr2:32250760 [GRCh38] Chr2:32475829 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2351-8T>C	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005226237]	Chr2:32238310 [GRCh38] Chr2:32463379 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.134A>T (p.Lys45Met)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005211180]	Chr2:32252547 [GRCh38] Chr2:32477616 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1939del (p.Arg647fs)	deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005211226]	Chr2:32249925 [GRCh38] Chr2:32474994 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2782+16C>T	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005210455]	Chr2:32235385 [GRCh38] Chr2:32460454 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1082C>A (p.Thr361Lys)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005212561]	Chr2:32250782 [GRCh38] Chr2:32475851 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1915G>T (p.Ala639Ser)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005210700]	Chr2:32249949 [GRCh38] Chr2:32475018 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.92A>G (p.Asn31Ser)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005210791]	Chr2:32252589 [GRCh38] Chr2:32477658 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1015del (p.Leu339fs)	deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005226158]	Chr2:32250849 [GRCh38] Chr2:32475918 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.49A>G (p.Met17Val)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005210532]	Chr2:32252632 [GRCh38] Chr2:32477701 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.414C>T (p.Val138=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005212762]	Chr2:32251450 [GRCh38] Chr2:32476519 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2783-20A>G	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005214146]	Chr2:32224785 [GRCh38] Chr2:32449854 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.235C>T (p.Pro79Ser)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005211085]	Chr2:32252446 [GRCh38] Chr2:32477515 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.548C>A (p.Ala183Asp)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005213146]	Chr2:32251316 [GRCh38] Chr2:32476385 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.905A>C (p.Glu302Ala)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005213751]	Chr2:32250959 [GRCh38] Chr2:32476028 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2614+15T>G	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005229179]	Chr2:32236232 [GRCh38] Chr2:32461301 [GRCh37] Chr2:2p22.3	benign
NM_001199138.2(NLRC4):c.2257+1G>A	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005213814]	Chr2:32249606 [GRCh38] Chr2:32474675 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2372AGA[1] (p.Lys792del)	microsatellite	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005212475]	Chr2:32238276..32238278 [GRCh38] Chr2:32463345..32463347 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2856T>C (p.Asp952=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005227141]	Chr2:32224692 [GRCh38] Chr2:32449761 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2096G>C (p.Gly699Ala)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005210184]	Chr2:32249768 [GRCh38] Chr2:32474837 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2568A>G (p.Ser856=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005210100]	Chr2:32236293 [GRCh38] Chr2:32461362 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2336A>T (p.Asp779Val)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005212489]	Chr2:32241047 [GRCh38] Chr2:32466116 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.151G>A (p.Ala51Thr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005218009]	Chr2:32252530 [GRCh38] Chr2:32477599 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1597_1605del (p.Leu534_Ser536del)	deletion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005218991]	Chr2:32250259..32250267 [GRCh38] Chr2:32475328..32475336 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.639T>G (p.Phe213Leu)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005220486]	Chr2:32251225 [GRCh38] Chr2:32476294 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.525G>A (p.Lys175=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005219553]	Chr2:32251339 [GRCh38] Chr2:32476408 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2205A>T (p.Val735=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005218739]	Chr2:32249659 [GRCh38] Chr2:32474728 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2926G>T (p.Glu976Ter)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005224289]	Chr2:32224622 [GRCh38] Chr2:32449691 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2969T>G (p.Val990Gly)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005216613]	Chr2:32224579 [GRCh38] Chr2:32449648 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1596A>G (p.Glu532=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005218992]	Chr2:32250268 [GRCh38] Chr2:32475337 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.488G>A (p.Ser163Asn)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005217845]	Chr2:32251376 [GRCh38] Chr2:32476445 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1852G>T (p.Gly618Trp)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005220588]	Chr2:32250012 [GRCh38] Chr2:32475081 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1481C>G (p.Thr494Ser)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005216872]	Chr2:32250383 [GRCh38] Chr2:32475452 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1260C>T (p.Val420=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005224380]	Chr2:32250604 [GRCh38] Chr2:32475673 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2350+15C>G	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005222429]	Chr2:32241018 [GRCh38] Chr2:32466087 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2323A>G (p.Met775Val)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005220662]	Chr2:32241060 [GRCh38] Chr2:32466129 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2351-12A>G	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005219236]	Chr2:32238314 [GRCh38] Chr2:32463383 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2782+13A>G	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005224738]	Chr2:32235388 [GRCh38] Chr2:32460457 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2257+2T>C	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005222480]	Chr2:32249605 [GRCh38] Chr2:32474674 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1206C>T (p.Phe402=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005220323]	Chr2:32250658 [GRCh38] Chr2:32475727 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.1849T>C (p.Tyr617His)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005219298]	Chr2:32250015 [GRCh38] Chr2:32475084 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.953C>A (p.Ala318Asp)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005218136]	Chr2:32250911 [GRCh38] Chr2:32475980 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.731_732insCC (p.Phe245fs)	insertion	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005220366]	Chr2:32251132..32251133 [GRCh38] Chr2:32476201..32476202 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.730C>T (p.Leu244Phe)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005220367]	Chr2:32251134 [GRCh38] Chr2:32476203 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2744A>G (p.Lys915Arg)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005218158]	Chr2:32235439 [GRCh38] Chr2:32460508 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1577G>C (p.Arg526Thr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005216459]	Chr2:32250287 [GRCh38] Chr2:32475356 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.334C>T (p.Pro112Ser)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005220512]	Chr2:32251530 [GRCh38] Chr2:32476599 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1019T>C (p.Phe340Ser)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005219534]	Chr2:32250845 [GRCh38] Chr2:32475914 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2774G>C (p.Arg925Thr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005217351]	Chr2:32235409 [GRCh38] Chr2:32460478 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.762G>T (p.Lys254Asn)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005219654]	Chr2:32251102 [GRCh38] Chr2:32476171 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.910A>G (p.Ser304Gly)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005224524]	Chr2:32250954 [GRCh38] Chr2:32476023 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.3025G>C (p.Asp1009His)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005219748]	Chr2:32224523 [GRCh38] Chr2:32449592 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.2-4T>C	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005223945]	Chr2:32252683 [GRCh38] Chr2:32477752 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2257+15A>C	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005217353]	Chr2:32249592 [GRCh38] Chr2:32474661 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.3002G>C (p.Arg1001Thr)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005222217]	Chr2:32224546 [GRCh38] Chr2:32449615 [GRCh37] Chr2:2p22.3	uncertain significance
NM_001199138.2(NLRC4):c.1179T>C (p.Cys393=)	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005221406]	Chr2:32250685 [GRCh38] Chr2:32475754 [GRCh37] Chr2:2p22.3	likely benign
NM_001199138.2(NLRC4):c.2257+16G>A	single nucleotide variant	Periodic fever-infantile enterocolitis-autoinflammatory syndrome [RCV005216848]	Chr2:32249591 [GRCh38] Chr2:32474660 [GRCh37] Chr2:2p22.3	likely benign

Predicted Target Of

	Summary Value
Count of predictions:	234
Count of miRNA genes:	58
Interacting mature miRNAs:	59
Transcripts:	ENST00000342905, ENST00000360906, ENST00000402280, ENST00000404025
Prediction methods:	Microtar, Miranda, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597189592	GWAS1285666_H	sex hormone-binding globulin measurement QTL GWAS1285666 (human)		1e-13	sex hormone-binding globulin measurement		2	32253285	32253286	Human
597213178	GWAS1309252_H	interleukin 18 measurement QTL GWAS1309252 (human)		1e-15	interleukin 18 measurement		2	32264089	32264090	Human
596974295	GWAS1093814_H	interleukin 18 measurement QTL GWAS1093814 (human)		1e-13	interleukin 18 measurement		2	32264782	32264783	Human
597185437	GWAS1281511_H	etiocholanolone glucuronide measurement QTL GWAS1281511 (human)		1e-12	etiocholanolone glucuronide measurement		2	32253285	32253286	Human
597250396	GWAS1346470_H	interleukin 18 measurement QTL GWAS1346470 (human)		1e-13	interleukin 18 measurement		2	32264782	32264783	Human
597216624	GWAS1312698_H	interleukin 18 measurement QTL GWAS1312698 (human)		1e-101	interleukin 18 measurement		2	32264782	32264783	Human
597501143	GWAS1597217_H	11beta-hydroxyandrosterone glucuronide measurement QTL GWAS1597217 (human)		3e-11	11beta-hydroxyandrosterone glucuronide measurement		2	32235279	32235280	Human
597022399	GWAS1118473_H	interleukin 18 measurement QTL GWAS1118473 (human)		2e-22	interleukin 18 measurement		2	32264782	32264783	Human
597096666	GWAS1192740_H	sex hormone-binding globulin measurement QTL GWAS1192740 (human)		1e-14	sex hormone-binding globulin measurement		2	32253285	32253286	Human
597140987	GWAS1237061_H	interleukin 18 measurement QTL GWAS1237061 (human)		3e-28	interleukin 18 measurement		2	32264782	32264783	Human
597181494	GWAS1277568_H	protein measurement QTL GWAS1277568 (human)		1e-39	protein measurement		2	32264782	32264783	Human
597098379	GWAS1194453_H	sex hormone-binding globulin measurement QTL GWAS1194453 (human)		3e-14	sex hormone-binding globulin measurement		2	32253285	32253286	Human
597138120	GWAS1234194_H	interleukin 18 measurement QTL GWAS1234194 (human)		2e-51	interleukin 18 measurement		2	32264782	32264783	Human

RH103483

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	32,476,696 - 32,476,849	UniSTS	GRCh37
Build 36	2	32,330,200 - 32,330,353	RGD	NCBI36
Celera	2	32,321,493 - 32,321,646	RGD
Cytogenetic Map	2	p22-p21	UniSTS
HuRef	2	32,215,808 - 32,215,961	UniSTS
GeneMap99-GB4 RH Map	2	103.33	UniSTS

RH119418

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	32,460,384 - 32,460,705	UniSTS	GRCh37
Build 36	2	32,313,888 - 32,314,209	RGD	NCBI36
Celera	2	32,305,182 - 32,305,503	RGD
Cytogenetic Map	2	p22-p21	UniSTS
HuRef	2	32,199,487 - 32,199,808	UniSTS
TNG Radiation Hybrid Map	2	23408.0	UniSTS

CARD12_8077

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	32,449,333 - 32,449,820	UniSTS	GRCh37
Build 36	2	32,302,837 - 32,303,324	RGD	NCBI36
Celera	2	32,294,153 - 32,294,640	RGD
HuRef	2	32,188,522 - 32,189,009	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2405	2787	2252	4915	1715	2283	4	622	1915	459	2245	7203	6421	27	3689	1	824	1711	1557	172	1


RefSeq Transcripts	NG_041780	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001199138	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001199139	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001302504	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_021209	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017004619	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047445356	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054343247	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001738872	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF376061	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK095467	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK292673	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK314762	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL121653	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL389934	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AW337918	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY027787	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY027788	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY027789	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY027790	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY032589	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY035391	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY358152	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC031555	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471053	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068276	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DN998613	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000342905 ⟹ ENSP00000339666

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	32,224,455 - 32,265,732 (-)	Ensembl

Ensembl Acc Id:

ENST00000360906 ⟹ ENSP00000354159

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	32,224,453 - 32,265,732 (-)	Ensembl

Ensembl Acc Id:

ENST00000402280 ⟹ ENSP00000385428

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	32,224,453 - 32,264,886 (-)	Ensembl

Ensembl Acc Id:

ENST00000404025 ⟹ ENSP00000385090

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	32,224,469 - 32,264,865 (-)	Ensembl

Ensembl Acc Id:

ENST00000652197 ⟹ ENSP00000498301

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	2	32,224,453 - 32,258,182 (-)	Ensembl

RefSeq Acc Id:

NM_001199138 ⟹ NP_001186067

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	32,224,453 - 32,264,886 (-)	NCBI
GRCh37	2	32,449,518 - 32,490,812 (-)	ENTREZGENE
HuRef	2	32,188,707 - 32,229,921 (-)	ENTREZGENE
CHM1_1	2	32,379,411 - 32,419,807 (-)	NCBI
T2T-CHM13v2.0	2	32,272,959 - 32,313,421 (-)	NCBI

Sequence:

show sequence

CTCTGTACACTGTCCTCTCACAGAACAAGAAGGTATCTGGTCTACAAGAACTCGAGGCCTCACTGAAACGGAAAGCAAATACAAAGAAACTTTATTTTAAAAACATGTCTTGGTCTCCCAAGAAGAGG
GCAATTGGATTGCTCAGCCAGAATGAAGAGTAGTTTTACAGAAAAAAGAGGACAATATTGGGATCACCTTTGACCTTTCCATTTGGAAATAATATTTTCTATTGTGTTATAGAAAGGTGGGAAGCTTT
CATCCAGAACAATGAATTTCATAAAGGACAATAGCCGAGCCCTTATTCAAAGAATGGGAATGACTGTTATAAAGCAAATCACAGATGACCTATTTGTATGGAATGTTCTGAATCGCGAAGAAGTAAAC
ATCATTTGCTGCGAGAAGGTGGAGCAGGATGCTGCTAGAGGGATCATTCACATGATTTTGAAAAAGGGTTCAGAGTCCTGTAACCTCTTTCTTAAATCCCTTAAGGAGTGGAACTATCCTCTATTTCA
GGACTTGAATGGACAAAGTCTTTTTCATCAGACATCAGAAGGAGACTTGGACGATTTGGCTCAGGATTTAAAGGACTTGTACCATACCCCATCTTTTCTGAACTTTTATCCCCTTGGTGAAGATATTG
ACATTATTTTTAACTTGAAAAGCACCTTCACAGAACCTGTCCTGTGGAGGAAGGACCAACACCATCACCGCGTGGAGCAGCTGACCCTGAATGGCCTCCTGCAGGCTCTTCAGAGCCCCTGCATCATT
GAAGGGGAATCTGGCAAAGGCAAGTCCACTCTGCTGCAGCGAATTGCCATGCTCTGGGGCTCCGGAAAGTGCAAGGCTCTGACCAAGTTCAAATTCGTCTTCTTCCTCCGTCTCAGCAGGGCCCAGGG
TGGACTTTTTGAAACCCTCTGTGATCAACTCCTGGATATACCTGGCACAATCAGGAAGCAGACATTCATGGCCATGCTGCTGAAGCTGCGGCAGAGGGTTCTTTTCCTTCTTGATGGCTACAATGAAT
TCAAGCCCCAGAACTGCCCAGAAATCGAAGCCCTGATAAAGGAAAACCACCGCTTCAAGAACATGGTCATCGTCACCACTACCACTGAGTGCCTGAGGCACATACGGCAGTTTGGTGCCCTGACTGCT
GAGGTGGGGGATATGACAGAAGACAGCGCCCAGGCTCTCATCCGAGAAGTGCTGATCAAGGAGCTTGCTGAAGGCTTGTTGCTCCAAATTCAGAAATCCAGGTGCTTGAGGAATCTCATGAAGACCCC
TCTCTTTGTGGTCATCACTTGTGCAATCCAGATGGGTGAAAGTGAGTTCCACTCTCACACACAAACAACGCTGTTCCATACCTTCTATGATCTGTTGATACAGAAAAACAAACACAAACATAAAGGTG
TGGCTGCAAGTGACTTCATTCGGAGCCTGGACCACTGTGGAGACCTAGCTCTGGAGGGTGTGTTCTCCCACAAGTTTGATTTCGAACTGCAGGATGTGTCCAGCGTGAATGAGGATGTCCTGCTGACA
ACTGGGCTCCTCTGTAAATATACAGCTCAAAGGTTCAAGCCAAAGTATAAATTCTTTCACAAGTCATTCCAGGAGTACACAGCAGGACGAAGACTCAGCAGTTTATTGACGTCTCATGAGCCAGAGGA
GGTGACCAAGGGGAATGGTTACTTGCAGAAAATGGTTTCCATTTCGGACATTACATCCACTTATAGCAGCCTGCTCCGGTACACCTGTGGGTCATCTGTGGAAGCCACCAGGGCTGTTATGAAGCACC
TCGCAGCAGTGTATCAACACGGCTGCCTTCTCGGACTTTCCATCGCCAAGAGGCCTCTCTGGAGACAGGAATCTTTGCAAAGTGTGAAAAACACCACTGAGCAAGAAATTCTGAAAGCCATAAACATC
AATTCCTTTGTAGAGTGTGGCATCCATTTATATCAAGAGAGTACATCCAAATCAGCCCTGAGCCAAGAATTTGAAGCTTTCTTTCAAGGTAAAAGCTTATATATCAACTCAGGGAACATCCCCGATTA
CTTATTTGACTTCTTTGAACATTTGCCCAATTGTGCAAGTGCCCTGGACTTCATTAAACTGGACTTTTATGGGGGAGCTATGGCTTCATGGGAAAAGGCTGCAGAAGACACAGGTGGAATCCACATGG
AAGAGGCCCCAGAAACCTACATTCCCAGCAGGGCTGTATCTTTGTTCTTCAACTGGAAGCAGGAATTCAGGACTCTGGAGGTCACACTCCGGGATTTCAGCAAGTTGAATAAGCAAGATATCAGATAT
CTGGGGAAAATATTCAGCTCTGCCACAAGCCTCAGGCTGCAAATAAAGAGATGTGCTGGTGTGGCTGGAAGCCTCAGTTTGGTCCTCAGCACCTGTAAGAACATTTATTCTCTCATGGTGGAAGCCAG
TCCCCTCACCATAGAAGATGAGAGGCACATCACATCTGTAACAAACCTGAAAACCTTGAGTATTCATGACCTACAGAATCAACGGCTGCCGGGTGGTCTGACTGACAGCTTGGGTAACTTGAAGAACC
TTACAAAGCTCATAATGGATAACATAAAGATGAATGAAGAAGATGCTATAAAACTAGCTGAAGGCCTGAAAAACCTGAAGAAGATGTGTTTATTTCATTTGACCCACTTGTCTGACATTGGAGAGGGA
ATGGATTACATAGTCAAGTCTCTGTCAAGTGAACCCTGTGACCTTGAAGAAATTCAATTAGTCTCCTGCTGCTTGTCTGCAAATGCAGTGAAAATCCTAGCTCAGAATCTTCACAATTTGGTCAAACT
GAGCATTCTTGATTTATCAGAAAATTACCTGGAAAAAGATGGAAATGAAGCTCTTCATGAACTGATCGACAGGATGAACGTGCTAGAACAGCTCACCGCACTGATGCTGCCCTGGGGCTGTGACGTGC
AAGGCAGCCTGAGCAGCCTGTTGAAACATTTGGAGGAGGTCCCACAACTCGTCAAGCTTGGGTTGAAAAACTGGAGACTCACAGATACAGAGATTAGAATTTTAGGTGCATTTTTTGGAAAGAACCCT
CTGAAAAACTTCCAGCAGTTGAATTTGGCGGGAAATCGTGTGAGCAGTGATGGATGGCTTGCCTTCATGGGTGTATTTGAGAATCTTAAGCAATTAGTGTTTTTTGACTTTAGTACTAAAGAATTTCT
ACCTGATCCAGCATTAGTCAGAAAACTTAGCCAAGTGTTATCCAAGTTAACTTTTCTGCAAGAAGCTAGGCTTGTTGGGTGGCAATTTGATGATGATGATCTCAGTGTTATTACAGGTGCTTTTAAAC
TAGTAACTGCTTAAATAAAGTGTACTCGAAGCCA

hide sequence

RefSeq Acc Id:

NM_001199139 ⟹ NP_001186068

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	32,224,449 - 32,265,620 (-)	NCBI
GRCh37	2	32,449,518 - 32,490,812 (-)	ENTREZGENE
HuRef	2	32,188,707 - 32,229,921 (-)	ENTREZGENE
CHM1_1	2	32,379,411 - 32,420,547 (-)	NCBI
T2T-CHM13v2.0	2	32,272,955 - 32,314,155 (-)	NCBI

Sequence:

show sequence

CTGCTGGAAGTCCTCTGGGATTCAAGAATGAAGAGTAGTTTTACAGAAAAAAGAGGACAATATT
GGGATCACCTTTGACCTTTCCATTTGGAAATAATATTTTCTATTGTGTTATAGAAAGGTGGGAAGCTTTCATCCAGAACAATGAATTTCATAAAGGACAATAGCCGAGCCCTTATTCAAAGAATGGGA
ATGACTGTTATAAAGCAAATCACAGATGACCTATTTGTATGGAATGTTCTGAATCGCGAAGAAGTAAACATCATTTGCTGCGAGAAGGTGGAGCAGGATGCTGCTAGAGGGATCATTCACATGATTTT
GAAAAAGGGTTCAGAGTCCTGTAACCTCTTTCTTAAATCCCTTAAGGAGTGGAACTATCCTCTATTTCAGGACTTGAATGGACAAAGTCTTTTTCATCAGACATCAGAAGGAGACTTGGACGATTTGG
CTCAGGATTTAAAGGACTTGTACCATACCCCATCTTTTCTGAACTTTTATCCCCTTGGTGAAGATATTGACATTATTTTTAACTTGAAAAGCACCTTCACAGAACCTGTCCTGTGGAGGAAGGACCAA
CACCATCACCGCGTGGAGCAGCTGACCCTGAATGGCCTCCTGCAGGCTCTTCAGAGCCCCTGCATCATTGAAGGGGAATCTGGCAAAGGCAAGTCCACTCTGCTGCAGCGAATTGCCATGCTCTGGGG
CTCCGGAAAGTGCAAGGCTCTGACCAAGTTCAAATTCGTCTTCTTCCTCCGTCTCAGCAGGGCCCAGGGTGGACTTTTTGAAACCCTCTGTGATCAACTCCTGGATATACCTGGCACAATCAGGAAGC
AGACATTCATGGCCATGCTGCTGAAGCTGCGGCAGAGGGTTCTTTTCCTTCTTGATGGCTACAATGAATTCAAGCCCCAGAACTGCCCAGAAATCGAAGCCCTGATAAAGGAAAACCACCGCTTCAAG
AACATGGTCATCGTCACCACTACCACTGAGTGCCTGAGGCACATACGGCAGTTTGGTGCCCTGACTGCTGAGGTGGGGGATATGACAGAAGACAGCGCCCAGGCTCTCATCCGAGAAGTGCTGATCAA
GGAGCTTGCTGAAGGCTTGTTGCTCCAAATTCAGAAATCCAGGTGCTTGAGGAATCTCATGAAGACCCCTCTCTTTGTGGTCATCACTTGTGCAATCCAGATGGGTGAAAGTGAGTTCCACTCTCACA
CACAAACAACGCTGTTCCATACCTTCTATGATCTGTTGATACAGAAAAACAAACACAAACATAAAGGTGTGGCTGCAAGTGACTTCATTCGGAGCCTGGACCACTGTGGAGACCTAGCTCTGGAGGGT
GTGTTCTCCCACAAGTTTGATTTCGAACTGCAGGATGTGTCCAGCGTGAATGAGGATGTCCTGCTGACAACTGGGCTCCTCTGTAAATATACAGCTCAAAGGTTCAAGCCAAAGTATAAATTCTTTCA
CAAGTCATTCCAGGAGTACACAGCAGGACGAAGACTCAGCAGTTTATTGACGTCTCATGAGCCAGAGGAGGTGACCAAGGGGAATGGTTACTTGCAGAAAATGGTTTCCATTTCGGACATTACATCCA
CTTATAGCAGCCTGCTCCGGTACACCTGTGGGTCATCTGTGGAAGCCACCAGGGCTGTTATGAAGCACCTCGCAGCAGTGTATCAACACGGCTGCCTTCTCGGACTTTCCATCGCCAAGAGGCCTCTC
TGGAGACAGGAATCTTTGCAAAGTGTGAAAAACACCACTGAGCAAGAAATTCTGAAAGCCATAAACATCAATTCCTTTGTAGAGTGTGGCATCCATTTATATCAAGAGAGTACATCCAAATCAGCCCT
GAGCCAAGAATTTGAAGCTTTCTTTCAAGGTAAAAGCTTATATATCAACTCAGGGAACATCCCCGATTACTTATTTGACTTCTTTGAACATTTGCCCAATTGTGCAAGTGCCCTGGACTTCATTAAAC
TGGACTTTTATGGGGGAGCTATGGCTTCATGGGAAAAGGCTGCAGAAGACACAGGTGGAATCCACATGGAAGAGGCCCCAGAAACCTACATTCCCAGCAGGGCTGTATCTTTGTTCTTCAACTGGAAG
CAGGAATTCAGGACTCTGGAGGTCACACTCCGGGATTTCAGCAAGTTGAATAAGCAAGATATCAGATATCTGGGGAAAATATTCAGCTCTGCCACAAGCCTCAGGCTGCAAATAAAGAGATGTGCTGG
TGTGGCTGGAAGCCTCAGTTTGGTCCTCAGCACCTGTAAGAACATTTATTCTCTCATGGTGGAAGCCAGTCCCCTCACCATAGAAGATGAGAGGCACATCACATCTGTAACAAACCTGAAAACCTTGA
GTATTCATGACCTACAGAATCAACGGCTGCCGGGTGGTCTGACTGACAGCTTGGGTAACTTGAAGAACCTTACAAAGCTCATAATGGATAACATAAAGATGAATGAAGAAGATGCTATAAAACTAGCT
GAAGGCCTGAAAAACCTGAAGAAGATGTGTTTATTTCATTTGACCCACTTGTCTGACATTGGAGAGGGAATGGATTACATAGTCAAGTCTCTGTCAAGTGAACCCTGTGACCTTGAAGAAATTCAATT
AGTCTCCTGCTGCTTGTCTGCAAATGCAGTGAAAATCCTAGCTCAGAATCTTCACAATTTGGTCAAACTGAGCATTCTTGATTTATCAGAAAATTACCTGGAAAAAGATGGAAATGAAGCTCTTCATG
AACTGATCGACAGGATGAACGTGCTAGAACAGCTCACCGCACTGATGCTGCCCTGGGGCTGTGACGTGCAAGGCAGCCTGAGCAGCCTGTTGAAACATTTGGAGGAGGTCCCACAACTCGTCAAGCTT
GGGTTGAAAAACTGGAGACTCACAGATACAGAGATTAGAATTTTAGGTGCATTTTTTGGAAAGAACCCTCTGAAAAACTTCCAGCAGTTGAATTTGGCGGGAAATCGTGTGAGCAGTGATGGATGGCT
TGCCTTCATGGGTGTATTTGAGAATCTTAAGCAATTAGTGTTTTTTGACTTTAGTACTAAAGAATTTCTACCTGATCCAGCATTAGTCAGAAAACTTAGCCAAGTGTTATCCAAGTTAACTTTTCTGC
AAGAAGCTAGGCTTGTTGGGTGGCAATTTGATGATGATGATCTCAGTGTTATTACAGGTGCTTTTAAACTAGTAACTGCTTAAATAAAGTGTACTCGAAGCCAGTAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_001302504 ⟹ NP_001289433

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	32,224,449 - 32,265,743 (-)	NCBI
CHM1_1	2	32,379,411 - 32,420,670 (-)	NCBI
T2T-CHM13v2.0	2	32,272,955 - 32,314,278 (-)	NCBI

Sequence:

show sequence

AAGCCCCTGGCTGTTTATACTCCGGAGGGTGTCCCCGTGCGTCATCGGTGGAGTGGACCAAAACTGGTGATCTGTTTGCCCTGTGTGACCTTGCCCAGAACCCTGCTGACTGAGAGAACACATCTGCT
GGAAGTCCTCTGGGATTCAAGGTACAGGGAATGAAGAGTAGTTTTACAGAAAAAAGAGGACAATATTGGGATCACCTTTGACCTTTCCATTTGGAAATAATATTTTCTATTGTGTTATAGAAAGGTGG
GAAGCTTTCATCCAGAACAATGAATTTCATAAAGGACAATAGCCGAGCCCTTATTCAAAGAATGGGAATGACTGTTATAAAGCAAATCACAGATGACCTATTTGTATGGAATGTTCTGAATCGCGAAG
AAGTAAACATCATTTGCTGCGAGAAGGTGGAGCAGGATGCTGCTAGAGGGATCATTCACATGATTTTGAAAAAGGGTTCAGAGTCCTGTAACCTCTTTCTTAAATCCCTTAAGGAGTGGAACTATCCT
CTATTTCAGGACTTGAATGGACAAAGTGGTCTGACTGACAGCTTGGGTAACTTGAAGAACCTTACAAAGCTCATAATGGATAACATAAAGATGAATGAAGAAGATGCTATAAAACTAGCTGAAGGCCT
GAAAAACCTGAAGAAGATGTGTTTATTTCATTTGACCCACTTGTCTGACATTGGAGAGGGAATGGATTACATAGTCAAGTCTCTGTCAAGTGAACCCTGTGACCTTGAAGAAATTCAATTAGTCTCCT
GCTGCTTGTCTGCAAATGCAGTGAAAATCCTAGCTCAGAATCTTCACAATTTGGTCAAACTGAGCATTCTTGATTTATCAGAAAATTACCTGGAAAAAGATGGAAATGAAGCTCTTCATGAACTGATC
GACAGGATGAACGTGCTAGAACAGCTCACCGCACTGATGCTGCCCTGGGGCTGTGACGTGCAAGGCAGCCTGAGCAGCCTGTTGAAACATTTGGAGGAGGTCCCACAACTCGTCAAGCTTGGGTTGAA
AAACTGGAGACTCACAGATACAGAGATTAGAATTTTAGGTGCATTTTTTGGAAAGAACCCTCTGAAAAACTTCCAGCAGTTGAATTTGGCGGGAAATCGTGTGAGCAGTGATGGATGGCTTGCCTTCA
TGGGTGTATTTGAGAATCTTAAGCAATTAGTGTTTTTTGACTTTAGTACTAAAGAATTTCTACCTGATCCAGCATTAGTCAGAAAACTTAGCCAAGTGTTATCCAAGTTAACTTTTCTGCAAGAAGCT
AGGCTTGTTGGGTGGCAATTTGATGATGATGATCTCAGTGTTATTACAGGTGCTTTTAAACTAGTAACTGCTTAAATAAAGTGTACTCGAAGCCAGTAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_021209 ⟹ NP_067032

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	32,224,449 - 32,265,743 (-)	NCBI
GRCh37	2	32,449,518 - 32,490,812 (-)	ENTREZGENE
Build 36	2	32,303,022 - 32,344,305 (-)	NCBI Archive
HuRef	2	32,188,707 - 32,229,921 (-)	ENTREZGENE
CHM1_1	2	32,379,411 - 32,420,670 (-)	NCBI
T2T-CHM13v2.0	2	32,272,955 - 32,314,278 (-)	NCBI

Sequence:

show sequence

AAGCCCCTGGCTGTTTATACTCCGGAGGGTGTCCCCGTGCGTCATCGGTGGAGTGGACCAAAACTGGTGATCTGTTTGCCCTGTGTGACCTTGCCCAGAACCCTGCTGACTGAGAGAACACATCTGCT
GGAAGTCCTCTGGGATTCAAGGTACAGGGAATGAAGAGTAGTTTTACAGAAAAAAGAGGACAATATTGGGATCACCTTTGACCTTTCCATTTGGAAATAATATTTTCTATTGTGTTATAGAAAGGTGG
GAAGCTTTCATCCAGAACAATGAATTTCATAAAGGACAATAGCCGAGCCCTTATTCAAAGAATGGGAATGACTGTTATAAAGCAAATCACAGATGACCTATTTGTATGGAATGTTCTGAATCGCGAAG
AAGTAAACATCATTTGCTGCGAGAAGGTGGAGCAGGATGCTGCTAGAGGGATCATTCACATGATTTTGAAAAAGGGTTCAGAGTCCTGTAACCTCTTTCTTAAATCCCTTAAGGAGTGGAACTATCCT
CTATTTCAGGACTTGAATGGACAAAGTCTTTTTCATCAGACATCAGAAGGAGACTTGGACGATTTGGCTCAGGATTTAAAGGACTTGTACCATACCCCATCTTTTCTGAACTTTTATCCCCTTGGTGA
AGATATTGACATTATTTTTAACTTGAAAAGCACCTTCACAGAACCTGTCCTGTGGAGGAAGGACCAACACCATCACCGCGTGGAGCAGCTGACCCTGAATGGCCTCCTGCAGGCTCTTCAGAGCCCCT
GCATCATTGAAGGGGAATCTGGCAAAGGCAAGTCCACTCTGCTGCAGCGAATTGCCATGCTCTGGGGCTCCGGAAAGTGCAAGGCTCTGACCAAGTTCAAATTCGTCTTCTTCCTCCGTCTCAGCAGG
GCCCAGGGTGGACTTTTTGAAACCCTCTGTGATCAACTCCTGGATATACCTGGCACAATCAGGAAGCAGACATTCATGGCCATGCTGCTGAAGCTGCGGCAGAGGGTTCTTTTCCTTCTTGATGGCTA
CAATGAATTCAAGCCCCAGAACTGCCCAGAAATCGAAGCCCTGATAAAGGAAAACCACCGCTTCAAGAACATGGTCATCGTCACCACTACCACTGAGTGCCTGAGGCACATACGGCAGTTTGGTGCCC
TGACTGCTGAGGTGGGGGATATGACAGAAGACAGCGCCCAGGCTCTCATCCGAGAAGTGCTGATCAAGGAGCTTGCTGAAGGCTTGTTGCTCCAAATTCAGAAATCCAGGTGCTTGAGGAATCTCATG
AAGACCCCTCTCTTTGTGGTCATCACTTGTGCAATCCAGATGGGTGAAAGTGAGTTCCACTCTCACACACAAACAACGCTGTTCCATACCTTCTATGATCTGTTGATACAGAAAAACAAACACAAACA
TAAAGGTGTGGCTGCAAGTGACTTCATTCGGAGCCTGGACCACTGTGGAGACCTAGCTCTGGAGGGTGTGTTCTCCCACAAGTTTGATTTCGAACTGCAGGATGTGTCCAGCGTGAATGAGGATGTCC
TGCTGACAACTGGGCTCCTCTGTAAATATACAGCTCAAAGGTTCAAGCCAAAGTATAAATTCTTTCACAAGTCATTCCAGGAGTACACAGCAGGACGAAGACTCAGCAGTTTATTGACGTCTCATGAG
CCAGAGGAGGTGACCAAGGGGAATGGTTACTTGCAGAAAATGGTTTCCATTTCGGACATTACATCCACTTATAGCAGCCTGCTCCGGTACACCTGTGGGTCATCTGTGGAAGCCACCAGGGCTGTTAT
GAAGCACCTCGCAGCAGTGTATCAACACGGCTGCCTTCTCGGACTTTCCATCGCCAAGAGGCCTCTCTGGAGACAGGAATCTTTGCAAAGTGTGAAAAACACCACTGAGCAAGAAATTCTGAAAGCCA
TAAACATCAATTCCTTTGTAGAGTGTGGCATCCATTTATATCAAGAGAGTACATCCAAATCAGCCCTGAGCCAAGAATTTGAAGCTTTCTTTCAAGGTAAAAGCTTATATATCAACTCAGGGAACATC
CCCGATTACTTATTTGACTTCTTTGAACATTTGCCCAATTGTGCAAGTGCCCTGGACTTCATTAAACTGGACTTTTATGGGGGAGCTATGGCTTCATGGGAAAAGGCTGCAGAAGACACAGGTGGAAT
CCACATGGAAGAGGCCCCAGAAACCTACATTCCCAGCAGGGCTGTATCTTTGTTCTTCAACTGGAAGCAGGAATTCAGGACTCTGGAGGTCACACTCCGGGATTTCAGCAAGTTGAATAAGCAAGATA
TCAGATATCTGGGGAAAATATTCAGCTCTGCCACAAGCCTCAGGCTGCAAATAAAGAGATGTGCTGGTGTGGCTGGAAGCCTCAGTTTGGTCCTCAGCACCTGTAAGAACATTTATTCTCTCATGGTG
GAAGCCAGTCCCCTCACCATAGAAGATGAGAGGCACATCACATCTGTAACAAACCTGAAAACCTTGAGTATTCATGACCTACAGAATCAACGGCTGCCGGGTGGTCTGACTGACAGCTTGGGTAACTT
GAAGAACCTTACAAAGCTCATAATGGATAACATAAAGATGAATGAAGAAGATGCTATAAAACTAGCTGAAGGCCTGAAAAACCTGAAGAAGATGTGTTTATTTCATTTGACCCACTTGTCTGACATTG
GAGAGGGAATGGATTACATAGTCAAGTCTCTGTCAAGTGAACCCTGTGACCTTGAAGAAATTCAATTAGTCTCCTGCTGCTTGTCTGCAAATGCAGTGAAAATCCTAGCTCAGAATCTTCACAATTTG
GTCAAACTGAGCATTCTTGATTTATCAGAAAATTACCTGGAAAAAGATGGAAATGAAGCTCTTCATGAACTGATCGACAGGATGAACGTGCTAGAACAGCTCACCGCACTGATGCTGCCCTGGGGCTG
TGACGTGCAAGGCAGCCTGAGCAGCCTGTTGAAACATTTGGAGGAGGTCCCACAACTCGTCAAGCTTGGGTTGAAAAACTGGAGACTCACAGATACAGAGATTAGAATTTTAGGTGCATTTTTTGGAA
AGAACCCTCTGAAAAACTTCCAGCAGTTGAATTTGGCGGGAAATCGTGTGAGCAGTGATGGATGGCTTGCCTTCATGGGTGTATTTGAGAATCTTAAGCAATTAGTGTTTTTTGACTTTAGTACTAAA
GAATTTCTACCTGATCCAGCATTAGTCAGAAAACTTAGCCAAGTGTTATCCAAGTTAACTTTTCTGCAAGAAGCTAGGCTTGTTGGGTGGCAATTTGATGATGATGATCTCAGTGTTATTACAGGTGC
TTTTAAACTAGTAACTGCTTAAATAAAGTGTACTCGAAGCCAGTAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

XM_047445356 ⟹ XP_047301312

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	32,241,033 - 32,264,886 (-)	NCBI

RefSeq Acc Id:

XM_054343247 ⟹ XP_054199222

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	2	32,289,543 - 32,313,421 (-)	NCBI


Protein RefSeqs	NP_001186067	(Get FASTA)	NCBI Sequence Viewer
	NP_001186068	(Get FASTA)	NCBI Sequence Viewer
	NP_001289433	(Get FASTA)	NCBI Sequence Viewer
	NP_067032	(Get FASTA)	NCBI Sequence Viewer
	XP_047301312	(Get FASTA)	NCBI Sequence Viewer
	XP_054199222	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH31555	(Get FASTA)	NCBI Sequence Viewer
	AAK14776	(Get FASTA)	NCBI Sequence Viewer
	AAK14777	(Get FASTA)	NCBI Sequence Viewer
	AAK14778	(Get FASTA)	NCBI Sequence Viewer
	AAK14779	(Get FASTA)	NCBI Sequence Viewer
	AAK38730	(Get FASTA)	NCBI Sequence Viewer
	AAK53443	(Get FASTA)	NCBI Sequence Viewer
	AAK59843	(Get FASTA)	NCBI Sequence Viewer
	AAQ88519	(Get FASTA)	NCBI Sequence Viewer
	BAF85362	(Get FASTA)	NCBI Sequence Viewer
	BAG37300	(Get FASTA)	NCBI Sequence Viewer
	BAG53062	(Get FASTA)	NCBI Sequence Viewer
	CAB97523	(Get FASTA)	NCBI Sequence Viewer
	EAX00451	(Get FASTA)	NCBI Sequence Viewer
	EAX00452	(Get FASTA)	NCBI Sequence Viewer
	EAX00453	(Get FASTA)	NCBI Sequence Viewer
	EAX00454	(Get FASTA)	NCBI Sequence Viewer
	EAX00455	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000339666
	ENSP00000339666.6
	ENSP00000354159
	ENSP00000354159.5
	ENSP00000385090
	ENSP00000385428
	ENSP00000385428.1
GenBank Protein	Q9NPP4	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_067032 ⟸ NM_021209
- Peptide Label:	isoform a
- UniProtKB:	Q96J82 (UniProtKB/Swiss-Prot), Q96J81 (UniProtKB/Swiss-Prot), D6W580 (UniProtKB/Swiss-Prot), B3KTF0 (UniProtKB/Swiss-Prot), B2RBQ3 (UniProtKB/Swiss-Prot), A8K9F8 (UniProtKB/Swiss-Prot), Q96J83 (UniProtKB/Swiss-Prot), Q9NPP4 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MNFIKDNSRALIQRMGMTVIKQITDDLFVWNVLNREEVNIICCEKVEQDAARGIIHMILKKGSESCNLFLKSLKEWNYPLFQDLNGQSLFHQTSEGDLDDLAQDLKDLYHTPSFLNFYPLGEDIDIIF NLKSTFTEPVLWRKDQHHHRVEQLTLNGLLQALQSPCIIEGESGKGKSTLLQRIAMLWGSGKCKALTKFKFVFFLRLSRAQGGLFETLCDQLLDIPGTIRKQTFMAMLLKLRQRVLFLLDGYNEFKPQ NCPEIEALIKENHRFKNMVIVTTTTECLRHIRQFGALTAEVGDMTEDSAQALIREVLIKELAEGLLLQIQKSRCLRNLMKTPLFVVITCAIQMGESEFHSHTQTTLFHTFYDLLIQKNKHKHKGVAAS DFIRSLDHCGDLALEGVFSHKFDFELQDVSSVNEDVLLTTGLLCKYTAQRFKPKYKFFHKSFQEYTAGRRLSSLLTSHEPEEVTKGNGYLQKMVSISDITSTYSSLLRYTCGSSVEATRAVMKHLAAV YQHGCLLGLSIAKRPLWRQESLQSVKNTTEQEILKAININSFVECGIHLYQESTSKSALSQEFEAFFQGKSLYINSGNIPDYLFDFFEHLPNCASALDFIKLDFYGGAMASWEKAAEDTGGIHMEEAP ETYIPSRAVSLFFNWKQEFRTLEVTLRDFSKLNKQDIRYLGKIFSSATSLRLQIKRCAGVAGSLSLVLSTCKNIYSLMVEASPLTIEDERHITSVTNLKTLSIHDLQNQRLPGGLTDSLGNLKNLTKL IMDNIKMNEEDAIKLAEGLKNLKKMCLFHLTHLSDIGEGMDYIVKSLSSEPCDLEEIQLVSCCLSANAVKILAQNLHNLVKLSILDLSENYLEKDGNEALHELIDRMNVLEQLTALMLPWGCDVQGSL SSLLKHLEEVPQLVKLGLKNWRLTDTEIRILGAFFGKNPLKNFQQLNLAGNRVSSDGWLAFMGVFENLKQLVFFDFSTKEFLPDPALVRKLSQVLSKLTFLQEARLVGWQFDDDDLSVITGAFKLVTA hide sequence

RefSeq Acc Id:	NP_001186068 ⟸ NM_001199139
- Peptide Label:	isoform a
- UniProtKB:	Q96J82 (UniProtKB/Swiss-Prot), Q96J81 (UniProtKB/Swiss-Prot), D6W580 (UniProtKB/Swiss-Prot), B3KTF0 (UniProtKB/Swiss-Prot), B2RBQ3 (UniProtKB/Swiss-Prot), A8K9F8 (UniProtKB/Swiss-Prot), Q96J83 (UniProtKB/Swiss-Prot), Q9NPP4 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MNFIKDNSRALIQRMGMTVIKQITDDLFVWNVLNREEVNIICCEKVEQDAARGIIHMILKKGSESCNLFLKSLKEWNYPLFQDLNGQSLFHQTSEGDLDDLAQDLKDLYHTPSFLNFYPLGEDIDIIF NLKSTFTEPVLWRKDQHHHRVEQLTLNGLLQALQSPCIIEGESGKGKSTLLQRIAMLWGSGKCKALTKFKFVFFLRLSRAQGGLFETLCDQLLDIPGTIRKQTFMAMLLKLRQRVLFLLDGYNEFKPQ NCPEIEALIKENHRFKNMVIVTTTTECLRHIRQFGALTAEVGDMTEDSAQALIREVLIKELAEGLLLQIQKSRCLRNLMKTPLFVVITCAIQMGESEFHSHTQTTLFHTFYDLLIQKNKHKHKGVAAS DFIRSLDHCGDLALEGVFSHKFDFELQDVSSVNEDVLLTTGLLCKYTAQRFKPKYKFFHKSFQEYTAGRRLSSLLTSHEPEEVTKGNGYLQKMVSISDITSTYSSLLRYTCGSSVEATRAVMKHLAAV YQHGCLLGLSIAKRPLWRQESLQSVKNTTEQEILKAININSFVECGIHLYQESTSKSALSQEFEAFFQGKSLYINSGNIPDYLFDFFEHLPNCASALDFIKLDFYGGAMASWEKAAEDTGGIHMEEAP ETYIPSRAVSLFFNWKQEFRTLEVTLRDFSKLNKQDIRYLGKIFSSATSLRLQIKRCAGVAGSLSLVLSTCKNIYSLMVEASPLTIEDERHITSVTNLKTLSIHDLQNQRLPGGLTDSLGNLKNLTKL IMDNIKMNEEDAIKLAEGLKNLKKMCLFHLTHLSDIGEGMDYIVKSLSSEPCDLEEIQLVSCCLSANAVKILAQNLHNLVKLSILDLSENYLEKDGNEALHELIDRMNVLEQLTALMLPWGCDVQGSL SSLLKHLEEVPQLVKLGLKNWRLTDTEIRILGAFFGKNPLKNFQQLNLAGNRVSSDGWLAFMGVFENLKQLVFFDFSTKEFLPDPALVRKLSQVLSKLTFLQEARLVGWQFDDDDLSVITGAFKLVTA hide sequence

RefSeq Acc Id:	NP_001186067 ⟸ NM_001199138
- Peptide Label:	isoform a
- UniProtKB:	Q96J82 (UniProtKB/Swiss-Prot), Q96J81 (UniProtKB/Swiss-Prot), D6W580 (UniProtKB/Swiss-Prot), B3KTF0 (UniProtKB/Swiss-Prot), B2RBQ3 (UniProtKB/Swiss-Prot), A8K9F8 (UniProtKB/Swiss-Prot), Q96J83 (UniProtKB/Swiss-Prot), Q9NPP4 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MNFIKDNSRALIQRMGMTVIKQITDDLFVWNVLNREEVNIICCEKVEQDAARGIIHMILKKGSESCNLFLKSLKEWNYPLFQDLNGQSLFHQTSEGDLDDLAQDLKDLYHTPSFLNFYPLGEDIDIIF NLKSTFTEPVLWRKDQHHHRVEQLTLNGLLQALQSPCIIEGESGKGKSTLLQRIAMLWGSGKCKALTKFKFVFFLRLSRAQGGLFETLCDQLLDIPGTIRKQTFMAMLLKLRQRVLFLLDGYNEFKPQ NCPEIEALIKENHRFKNMVIVTTTTECLRHIRQFGALTAEVGDMTEDSAQALIREVLIKELAEGLLLQIQKSRCLRNLMKTPLFVVITCAIQMGESEFHSHTQTTLFHTFYDLLIQKNKHKHKGVAAS DFIRSLDHCGDLALEGVFSHKFDFELQDVSSVNEDVLLTTGLLCKYTAQRFKPKYKFFHKSFQEYTAGRRLSSLLTSHEPEEVTKGNGYLQKMVSISDITSTYSSLLRYTCGSSVEATRAVMKHLAAV YQHGCLLGLSIAKRPLWRQESLQSVKNTTEQEILKAININSFVECGIHLYQESTSKSALSQEFEAFFQGKSLYINSGNIPDYLFDFFEHLPNCASALDFIKLDFYGGAMASWEKAAEDTGGIHMEEAP ETYIPSRAVSLFFNWKQEFRTLEVTLRDFSKLNKQDIRYLGKIFSSATSLRLQIKRCAGVAGSLSLVLSTCKNIYSLMVEASPLTIEDERHITSVTNLKTLSIHDLQNQRLPGGLTDSLGNLKNLTKL IMDNIKMNEEDAIKLAEGLKNLKKMCLFHLTHLSDIGEGMDYIVKSLSSEPCDLEEIQLVSCCLSANAVKILAQNLHNLVKLSILDLSENYLEKDGNEALHELIDRMNVLEQLTALMLPWGCDVQGSL SSLLKHLEEVPQLVKLGLKNWRLTDTEIRILGAFFGKNPLKNFQQLNLAGNRVSSDGWLAFMGVFENLKQLVFFDFSTKEFLPDPALVRKLSQVLSKLTFLQEARLVGWQFDDDDLSVITGAFKLVTA hide sequence

RefSeq Acc Id:	NP_001289433 ⟸ NM_001302504
- Peptide Label:	isoform b
- UniProtKB:	Q9NPP4 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MNFIKDNSRALIQRMGMTVIKQITDDLFVWNVLNREEVNIICCEKVEQDAARGIIHMILKKGSESCNLFLKSLKEWNYPLFQDLNGQSGLTDSLGNLKNLTKLIMDNIKMNEEDAIKLAEGLKNLKKM CLFHLTHLSDIGEGMDYIVKSLSSEPCDLEEIQLVSCCLSANAVKILAQNLHNLVKLSILDLSENYLEKDGNEALHELIDRMNVLEQLTALMLPWGCDVQGSLSSLLKHLEEVPQLVKLGLKNWRLTD TEIRILGAFFGKNPLKNFQQLNLAGNRVSSDGWLAFMGVFENLKQLVFFDFSTKEFLPDPALVRKLSQVLSKLTFLQEARLVGWQFDDDDLSVITGAFKLVTA hide sequence

Ensembl Acc Id:

ENSP00000354159 ⟸ ENST00000360906

Protein Domains

CARD NACHT

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9NPP4-F1-model_v2	AlphaFold	Q9NPP4	1-1024	view protein structure

RGD ID:

6860058

Promoter ID:

EPDNEW_H3194

Type:

initiation region

Name:

NLRC4_1

Description:

NLR family CARD domain containing 4

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H3195

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	32,264,865 - 32,264,925	EPDNEW

RGD ID:

6860060

Promoter ID:

EPDNEW_H3195

Type:

initiation region

Name:

NLRC4_2

Description:

NLR family CARD domain containing 4

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H3194

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	2	32,265,815 - 32,265,875	EPDNEW

RGD ID:

6797179

Promoter ID:

HG_KWN:32115

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562, Lymphoblastoid, NB4

Transcripts:

ENST00000401562, UC002ROI.2

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	2	32,343,096 - 32,343,596 (-)	MPROMDB

Database	Acc Id	Source(s)
COSMIC	NLRC4	COSMIC
Ensembl Genes	ENSG00000091106	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000342905	ENTREZGENE
	ENST00000342905.10	UniProtKB/Swiss-Prot
	ENST00000360906	ENTREZGENE
	ENST00000360906.9	UniProtKB/Swiss-Prot
	ENST00000402280	ENTREZGENE
	ENST00000402280.6	UniProtKB/Swiss-Prot
	ENST00000404025	ENTREZGENE
Gene3D-CATH	1.10.1900.50	UniProtKB/Swiss-Prot
	1.10.533.10	UniProtKB/Swiss-Prot
	3.40.50.300	UniProtKB/Swiss-Prot
	3.80.10.10	UniProtKB/Swiss-Prot
GTEx	ENSG00000091106	GTEx
HGNC ID	HGNC:16412	ENTREZGENE
Human Proteome Map	NLRC4	Human Proteome Map
InterPro	CARD	UniProtKB/Swiss-Prot
	DEATH-like_dom_sf	UniProtKB/Swiss-Prot
	LRR_dom_sf	UniProtKB/Swiss-Prot
	NACHT_NTPase	UniProtKB/Swiss-Prot
	NLRC4	UniProtKB/Swiss-Prot
	Nlrc4-like_WHD	UniProtKB/Swiss-Prot
	NLRC4_HD	UniProtKB/Swiss-Prot
	P-loop_NTPase	UniProtKB/Swiss-Prot
KEGG Report	hsa:58484	UniProtKB/Swiss-Prot
NCBI Gene	58484	ENTREZGENE
OMIM	606831	OMIM
PANTHER	NLR FAMILY CARD DOMAIN-CONTAINING PROTEIN 4	UniProtKB/Swiss-Prot
	PTHR47688	UniProtKB/Swiss-Prot
Pfam	CARD	UniProtKB/Swiss-Prot
	NACHT	UniProtKB/Swiss-Prot
	Nlrc4-like_WHD	UniProtKB/Swiss-Prot
	NLRC4_HD	UniProtKB/Swiss-Prot
PharmGKB	PA162397671	PharmGKB
PROSITE	CARD	UniProtKB/Swiss-Prot
	NACHT	UniProtKB/Swiss-Prot
Superfamily-SCOP	RNI-like	UniProtKB/Swiss-Prot
	SSF47986	UniProtKB/Swiss-Prot
	SSF52540	UniProtKB/Swiss-Prot
UniProt	A0A494BZZ1_HUMAN	UniProtKB/TrEMBL
	A0A499FIV7	ENTREZGENE, UniProtKB/TrEMBL
	A8K9F8	ENTREZGENE
	B2RBQ3	ENTREZGENE
	B3KTF0	ENTREZGENE
	D6W580	ENTREZGENE
	NLRC4_HUMAN	UniProtKB/Swiss-Prot
	Q96J81	ENTREZGENE
	Q96J82	ENTREZGENE
	Q96J83	ENTREZGENE
	Q9NPP4	ENTREZGENE
UniProt Secondary	A8K9F8	UniProtKB/Swiss-Prot
	B2RBQ3	UniProtKB/Swiss-Prot
	B3KTF0	UniProtKB/Swiss-Prot
	D6W580	UniProtKB/Swiss-Prot
	Q96J81	UniProtKB/Swiss-Prot
	Q96J82	UniProtKB/Swiss-Prot
	Q96J83	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-06-07	NLRC4	NLR family CARD domain containing 4	NLRC4	NLR family, CARD domain containing 4	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar