Advanced Search (OLGA)

Gene: TBCE (tubulin folding cofactor E) Homo sapiens

Subscribe to Updates

Analyze

Symbol:

TBCE

Name:

tubulin folding cofactor E

RGD ID:

1313614

HGNC Page

HGNC:11582

Description:

Predicted to enable alpha-tubulin binding activity. Involved in mitotic spindle organization and post-chaperonin tubulin folding pathway. Predicted to be located in microtubule. Predicted to be part of ribonucleoprotein complex. Predicted to be active in cytoplasm. Implicated in Kenny-Caffey syndrome type 1; hypoparathyroidism; and hypoparathyroidism-retardation-dysmorphism syndrome.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

HRD; hypoparathyroidism, growth and mental retardation, and dysmorphism; KCS; KCS1; Kenny-Caffey syndrome; pac2; PEAMO; tubulin-folding cofactor E; tubulin-specific chaperone E

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Tbce (tubulin-specific chaperone E)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Tbce (tubulin folding cofactor E)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Tbce (tubulin folding cofactor E)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	TBCE (tubulin folding cofactor E)	NCBI	Ortholog
Canis lupus familiaris (dog):	TBCE (tubulin folding cofactor E)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Tbce (tubulin folding cofactor E)	NCBI	Ortholog
Sus scrofa (pig):	TBCE (tubulin folding cofactor E)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	TBCE (tubulin folding cofactor E)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Tbce (tubulin folding cofactor E)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Tbce (tubulin folding cofactor E)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Tbce (tubulin-specific chaperone E)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	tbce (tubulin folding cofactor E)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Saccharomyces cerevisiae (baker's yeast):	PAC2	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Tbce	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	tbce-1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	tbce.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	tbce	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)

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	1	235,367,427 - 235,452,443 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	235,367,360 - 235,452,443 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	235,530,742 - 235,615,756 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	233,597,351 - 233,678,903 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	231,856,811 - 231,938,321	NCBI
Celera	1	208,773,486 - 208,855,524 (+)	NCBI		Celera
Cytogenetic Map	1	q42.3	NCBI
HuRef	1	205,979,723 - 206,063,927 (+)	NCBI		HuRef
CHM1_1	1	236,803,044 - 236,884,877 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	234,759,155 - 234,848,336 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TBCE	Human	Dwarfism		IAGP		1599303	Kenny-Caffey syndrome , OMIM:244460	RGD
TBCE	Human	hypoparathyroidism		IAGP		1599303	hypoparathyroidism-retardation-dysmorphism syndrome and OMIM:241410	RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TBCE	Human	Chediak-Higashi syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Chédiak-Higashi syndrome	ClinVar	PMID:28492532
TBCE	Human	Chediak-Higashi syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Chédiak-Higashi syndrome	ClinVar	PMID:11857544 more ...
TBCE	Human	common variable immunodeficiency 14		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Immunodeficiency more ...	ClinVar
TBCE	Human	congenital muscular dystrophy-dystroglycanopathy type A11		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a and 11	ClinVar	PMID:26663670 more ...
TBCE	Human	congenital muscular dystrophy-dystroglycanopathy type A11		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a and 11	ClinVar	PMID:23453667 and PMID:28492532
TBCE	Human	congenital muscular dystrophy-dystroglycanopathy type A11		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a and 11	ClinVar	PMID:28492532
TBCE	Human	congenital muscular dystrophy-dystroglycanopathy type A11		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a and 11	ClinVar	PMID:25741868 and PMID:28492532
TBCE	Human	disorder of sexual development		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Disorder of sexual differentiation	ClinVar	PMID:16199547 more ...
TBCE	Human	gastrointestinal stromal tumor		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Gastrointestinal stromal tumor	ClinVar	PMID:28492532
TBCE	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:12389028 more ...
TBCE	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
TBCE	Human	genetic disease		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:17576681 more ...
TBCE	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:16199547 more ...
TBCE	Human	genetic disease		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868 and PMID:28492532
TBCE	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
TBCE	Human	hypoparathyroidism-retardation-dysmorphism syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome	ClinVar	PMID:12389028
TBCE	Human	hypoparathyroidism-retardation-dysmorphism syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome	ClinVar	PMID:25741868
TBCE	Human	hypoparathyroidism-retardation-dysmorphism syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome	ClinVar	PMID:25741868 more ...
TBCE	Human	hypoparathyroidism-retardation-dysmorphism syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:25741868 and PMID:28492532
TBCE	Human	hypoparathyroidism-retardation-dysmorphism syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
TBCE	Human	hypoparathyroidism-retardation-dysmorphism syndrome		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome	ClinVar
TBCE	Human	hypoparathyroidism-retardation-dysmorphism syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome	ClinVar	PMID:12389028 more ...
TBCE	Human	hypoparathyroidism-retardation-dysmorphism syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome	ClinVar	PMID:12389028 more ...
TBCE	Human	hypoparathyroidism-retardation-dysmorphism syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hypoparathyroidism more ...	ClinVar	PMID:16199547 more ...
TBCE	Human	hypoparathyroidism-retardation-dysmorphism syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome	ClinVar	PMID:17576681 more ...
TBCE	Human	hypoparathyroidism-retardation-dysmorphism syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome	ClinVar	PMID:12389028 more ...
TBCE	Human	Kenny-Caffey syndrome type 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autosomal recessive Kenny-Caffey syndrome	ClinVar	PMID:12389028 more ...
TBCE	Human	Kenny-Caffey syndrome type 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autosomal recessive Kenny-Caffey syndrome	ClinVar	PMID:12389028 more ...
TBCE	Human	Kenny-Caffey syndrome type 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autosomal recessive Kenny-Caffey syndrome	ClinVar	PMID:25741868
TBCE	Human	Kenny-Caffey syndrome type 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autosomal recessive Kenny-Caffey syndrome	ClinVar	PMID:16199547 more ...
TBCE	Human	microcephaly		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Microcephaly	ClinVar	PMID:25741868 and PMID:28492532
TBCE	Human	parathyroid carcinoma		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Parathyroid carcinoma	ClinVar	PMID:28492532
TBCE	Human	Pituitary Stalk Interruption Syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Pituitary stalk interruption syndrome	ClinVar	PMID:25741868
TBCE	Human	Progressive Encephalopathy with Amyotrophy and Optic Atrophy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Encephalopathy more ...	ClinVar	PMID:16199547 more ...
TBCE	Human	Progressive Encephalopathy with Amyotrophy and Optic Atrophy		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Encephalopathy more ...	ClinVar	PMID:25741868
TBCE	Human	Progressive Encephalopathy with Amyotrophy and Optic Atrophy		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Encephalopathy more ...	ClinVar	PMID:25741868 and PMID:28492532
TBCE	Human	Progressive Encephalopathy with Amyotrophy and Optic Atrophy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Encephalopathy more ...	ClinVar	PMID:27666369 more ...
TBCE	Human	Progressive Encephalopathy with Amyotrophy and Optic Atrophy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Encephalopathy more ...	ClinVar	PMID:25741868 more ...
TBCE	Human	Progressive Encephalopathy with Amyotrophy and Optic Atrophy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Encephalopathy more ...	ClinVar	PMID:12389028 more ...

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TBCE	Human	bacterial infectious disease		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:12389028
TBCE	Human	Craniofacial Abnormalities		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:12389028
TBCE	Human	Facies		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:12389028
TBCE	Human	hypoparathyroidism-retardation-dysmorphism syndrome		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:12389028
TBCE	Human	Kenny-Caffey syndrome type 1		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD
TBCE	Human	Kenny-Caffey syndrome type 2		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:12389028
TBCE	Human	osteosclerosis		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:12389028

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TBCE	Human	hypoparathyroidism-retardation-dysmorphism syndrome		IAGP		7240710		OMIM
TBCE	Human	Kenny-Caffey syndrome type 1		IAGP		7240710		OMIM
TBCE	Human	Progressive Encephalopathy with Amyotrophy and Optic Atrophy		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)
TBCE	Human	17alpha-ethynylestradiol	decreases expression	ISO	Tbce (Rattus norvegicus)	6480464	Ethinyl Estradiol results in decreased expression of TBCE mRNA	CTD	PMID:29097150
TBCE	Human	17beta-estradiol	increases expression	ISO	Tbce (Mus musculus)	6480464	Estradiol results in increased expression of TBCE mRNA	CTD	PMID:39298647
TBCE	Human	2,2',4,4'-Tetrabromodiphenyl ether	affects expression	ISO	Tbce (Mus musculus)	6480464	2 more ...	CTD	PMID:30294300
TBCE	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Tbce (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in increased expression of TBCE mRNA	CTD	PMID:33387578
TBCE	Human	2,4-dinitrotoluene	affects expression	ISO	Tbce (Rattus norvegicus)	6480464	2 and 4-dinitrotoluene affects the expression of TBCE mRNA	CTD	PMID:21346803
TBCE	Human	2,6-dinitrotoluene	affects expression	ISO	Tbce (Rattus norvegicus)	6480464	2 and 6-dinitrotoluene affects the expression of TBCE mRNA	CTD	PMID:21346803
TBCE	Human	4,4'-diaminodiphenylmethane	decreases expression	ISO	Tbce (Mus musculus)	6480464	4 and 4'-diaminodiphenylmethane results in decreased expression of TBCE mRNA	CTD	PMID:18648102
TBCE	Human	4,4'-sulfonyldiphenol	increases expression	ISO	Tbce (Mus musculus)	6480464	bisphenol S results in increased expression of TBCE mRNA	CTD	PMID:39298647
TBCE	Human	4,4'-sulfonyldiphenol	multiple interactions	ISO	Tbce (Rattus norvegicus)	6480464	[bisphenol A co-treated with bisphenol F co-treated with bisphenol S] results in increased expression of TBCE mRNA	CTD	PMID:36041667
TBCE	Human	4-hydroxyphenyl retinamide	increases expression	ISO	Tbce (Mus musculus)	6480464	Fenretinide results in increased expression of TBCE mRNA	CTD	PMID:28973697
TBCE	Human	5-fluorouracil	affects response to substance	EXP		6480464	TBCE protein affects the susceptibility to Fluorouracil	CTD	PMID:16217747
TBCE	Human	aflatoxin B1	increases expression	ISO	Tbce (Mus musculus)	6480464	Aflatoxin B1 results in increased expression of TBCE mRNA	CTD	PMID:19770486
TBCE	Human	aflatoxin B1	increases methylation	EXP		6480464	Aflatoxin B1 results in increased methylation of TBCE intron	CTD	PMID:30157460
TBCE	Human	all-trans-retinoic acid	decreases expression	EXP		6480464	Tretinoin results in decreased expression of TBCE mRNA	CTD	PMID:33167477
TBCE	Human	aristolochic acid A	decreases expression	EXP		6480464	aristolochic acid I results in decreased expression of TBCE mRNA	CTD	PMID:33212167
TBCE	Human	Aroclor 1254	decreases expression	ISO	Tbce (Mus musculus)	6480464	Chlorodiphenyl (54% Chlorine) results in decreased expression of TBCE mRNA	CTD	PMID:23650126
TBCE	Human	arsane	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased abundance of Manganese]] results in increased expression of TBCE mRNA	CTD	PMID:39836092
TBCE	Human	arsenic atom	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased abundance of Manganese]] results in increased expression of TBCE mRNA	CTD	PMID:39836092
TBCE	Human	arsenite(3-)	increases expression	ISO	Tbce (Mus musculus)	6480464	arsenite results in increased expression of TBCE protein	CTD	PMID:37955338
TBCE	Human	arsenite(3-)	multiple interactions	EXP		6480464	arsenite promotes the reaction [G3BP1 protein binds to TBCE mRNA]	CTD	PMID:32406909
TBCE	Human	atrazine	decreases expression	EXP		6480464	Atrazine results in decreased expression of TBCE mRNA	CTD	PMID:22378314
TBCE	Human	benzo[a]pyrene	increases expression	ISO	Tbce (Mus musculus)	6480464	Benzo(a)pyrene results in increased expression of TBCE mRNA	CTD	PMID:19770486
TBCE	Human	bisphenol A	increases expression	ISO	Tbce (Rattus norvegicus)	6480464	bisphenol A results in increased expression of TBCE mRNA	CTD	PMID:25181051
TBCE	Human	bisphenol A	multiple interactions	ISO	Tbce (Rattus norvegicus)	6480464	[bisphenol A co-treated with bisphenol F co-treated with bisphenol S] results in increased expression of TBCE mRNA	CTD	PMID:36041667
TBCE	Human	bisphenol A	increases expression	EXP		6480464	bisphenol A results in increased expression of TBCE protein	CTD	PMID:33376534
TBCE	Human	bisphenol AF	increases expression	EXP		6480464	bisphenol AF results in increased expression of TBCE protein	CTD	PMID:34186270
TBCE	Human	Bisphenol B	increases expression	EXP		6480464	bisphenol B results in increased expression of TBCE protein	CTD	PMID:34186270
TBCE	Human	bisphenol F	decreases expression	ISO	Tbce (Mus musculus)	6480464	bisphenol F results in decreased expression of TBCE mRNA	CTD	PMID:38685157
TBCE	Human	bisphenol F	increases expression	EXP		6480464	bisphenol F results in increased expression of TBCE protein	CTD	PMID:34186270
TBCE	Human	bisphenol F	multiple interactions	ISO	Tbce (Rattus norvegicus)	6480464	[bisphenol A co-treated with bisphenol F co-treated with bisphenol S] results in increased expression of TBCE mRNA	CTD	PMID:36041667
TBCE	Human	C60 fullerene	decreases expression	ISO	Tbce (Rattus norvegicus)	6480464	fullerene C60 results in decreased expression of TBCE mRNA	CTD	PMID:19167457
TBCE	Human	cadmium dichloride	affects expression	ISO	Tbce (Mus musculus)	6480464	Cadmium Chloride affects the expression of TBCE mRNA	CTD	PMID:20883709
TBCE	Human	chlordecone	multiple interactions	ISO	Tbce (Mus musculus)	6480464	Chlordecone promotes the reaction [Biomarkers metabolite binds to TBCE gene]	CTD	PMID:31084621
TBCE	Human	chlorpyrifos	decreases expression	ISO	Tbce (Mus musculus)	6480464	Chlorpyrifos results in decreased expression of TBCE mRNA	CTD	PMID:37019170
TBCE	Human	clofibrate	multiple interactions	ISO	Tbce (Mus musculus)	6480464	[Clofibrate co-treated with Acetaminophen] affects the expression of TBCE mRNA and PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of TBCE mRNA]	CTD	PMID:17585979
TBCE	Human	cobalt dichloride	increases expression	EXP		6480464	cobaltous chloride results in increased expression of TBCE mRNA	CTD	PMID:19376846
TBCE	Human	crocidolite asbestos	decreases expression	ISO	Tbce (Mus musculus)	6480464	Asbestos and Crocidolite results in decreased expression of TBCE mRNA	CTD	PMID:29279043
TBCE	Human	cyclosporin A	increases expression	EXP		6480464	Cyclosporine results in increased expression of TBCE mRNA	CTD	PMID:25562108
TBCE	Human	doxorubicin	increases expression	ISO	Tbce (Mus musculus)	6480464	Doxorubicin results in increased expression of TBCE mRNA	CTD	PMID:25896364
TBCE	Human	enzyme inhibitor	multiple interactions	EXP		6480464	[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of TBCE protein	CTD	PMID:23301498
TBCE	Human	finasteride	increases expression	ISO	Tbce (Rattus norvegicus)	6480464	Finasteride results in increased expression of TBCE mRNA	CTD	PMID:24136188
TBCE	Human	flutamide	increases expression	ISO	Tbce (Rattus norvegicus)	6480464	Flutamide results in increased expression of TBCE mRNA	CTD	PMID:24136188
TBCE	Human	gentamycin	increases expression	ISO	Tbce (Rattus norvegicus)	6480464	Gentamicins results in increased expression of TBCE mRNA	CTD	PMID:22061828
TBCE	Human	hydrogen peroxide	affects expression	EXP		6480464	Hydrogen Peroxide affects the expression of TBCE mRNA	CTD	PMID:20044591
TBCE	Human	ivermectin	decreases expression	EXP		6480464	Ivermectin results in decreased expression of TBCE protein	CTD	PMID:32959892
TBCE	Human	manganese atom	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased abundance of Manganese]] results in increased expression of TBCE mRNA	CTD	PMID:39836092
TBCE	Human	manganese(0)	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased abundance of Manganese]] results in increased expression of TBCE mRNA	CTD	PMID:39836092
TBCE	Human	manganese(II) chloride	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased abundance of Manganese]] results in increased expression of TBCE mRNA	CTD	PMID:39836092
TBCE	Human	methoxychlor	affects methylation	ISO	Tbce (Rattus norvegicus)	6480464	Methoxychlor affects the methylation of TBCE gene	CTD	PMID:35440735
TBCE	Human	nefazodone	increases expression	ISO	Tbce (Rattus norvegicus)	6480464	nefazodone results in increased expression of TBCE mRNA	CTD	PMID:24136188
TBCE	Human	nimesulide	increases expression	ISO	Tbce (Rattus norvegicus)	6480464	nimesulide results in increased expression of TBCE mRNA	CTD	PMID:24136188
TBCE	Human	paracetamol	multiple interactions	ISO	Tbce (Mus musculus)	6480464	[Clofibrate co-treated with Acetaminophen] affects the expression of TBCE mRNA and PPARA affects the reaction [[Clofibrate co-treated with Acetaminophen] affects the expression of TBCE mRNA]	CTD	PMID:17585979
TBCE	Human	paracetamol	decreases expression	ISO	Tbce (Mus musculus)	6480464	Acetaminophen results in decreased expression of TBCE mRNA	CTD	PMID:17585979
TBCE	Human	paracetamol	affects expression	ISO	Tbce (Mus musculus)	6480464	Acetaminophen affects the expression of TBCE mRNA	CTD	PMID:17562736
TBCE	Human	perfluorohexanesulfonic acid	increases expression	ISO	Tbce (Mus musculus)	6480464	perfluorohexanesulfonic acid results in increased expression of TBCE mRNA	CTD	PMID:37995155
TBCE	Human	phenobarbital	increases expression	ISO	Tbce (Rattus norvegicus)	6480464	Phenobarbital results in increased expression of TBCE mRNA	CTD	PMID:19162173
TBCE	Human	pregnenolone 16alpha-carbonitrile	increases expression	ISO	Tbce (Rattus norvegicus)	6480464	Pregnenolone Carbonitrile results in increased expression of TBCE mRNA	CTD	PMID:19162173
TBCE	Human	rotenone	multiple interactions	ISO	Tbce (Mus musculus)	6480464	TRP53 affects the reaction [Rotenone affects the expression of TBCE mRNA]	CTD	PMID:21893155
TBCE	Human	rotenone	affects expression	ISO	Tbce (Mus musculus)	6480464	Rotenone affects the expression of TBCE mRNA	CTD	PMID:21893155
TBCE	Human	sodium arsenite	increases expression	ISO	Tbce (Mus musculus)	6480464	sodium arsenite results in increased expression of TBCE mRNA	CTD	PMID:20883709
TBCE	Human	sodium arsenite	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased abundance of Manganese]] results in increased expression of TBCE mRNA	CTD	PMID:39836092
TBCE	Human	titanium dioxide	decreases methylation	ISO	Tbce (Mus musculus)	6480464	titanium dioxide results in decreased methylation of TBCE gene	CTD	PMID:35295148
TBCE	Human	valproic acid	increases expression	EXP		6480464	Valproic Acid results in increased expression of TBCE mRNA	CTD	PMID:23179753 and PMID:29154799
TBCE	Human	vinclozolin	decreases expression	ISO	Tbce (Rattus norvegicus)	6480464	vinclozolin results in decreased expression of TBCE mRNA	CTD	PMID:22570695

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)
TBCE	Human	adult locomotory behavior	acts_upstream_of_or_within	IEA	UniProtKB:Q8CIV8 and ensembl:ENSMUSP00000047880	150520179		Ensembl	GO_REF:0000107
TBCE	Human	axonogenesis	acts_upstream_of_or_within	IEA	UniProtKB:Q8CIV8 and ensembl:ENSMUSP00000047880	150520179		Ensembl	GO_REF:0000107
TBCE	Human	developmental growth	acts_upstream_of_or_within	IEA	UniProtKB:Q8CIV8 and ensembl:ENSMUSP00000047880	150520179		Ensembl	GO_REF:0000107
TBCE	Human	isoprenoid biosynthetic process	involved_in	IEA	InterPro:IPR000092	150520179		InterPro	GO_REF:0000002
TBCE	Human	microtubule cytoskeleton organization	acts_upstream_of_or_within	IEA	UniProtKB:Q8CIV8 and ensembl:ENSMUSP00000047880	150520179		Ensembl	GO_REF:0000107
TBCE	Human	microtubule cytoskeleton organization	involved_in	IBA	FB:FBgn0033055 more ...	150520179		GO_Central	GO_REF:0000033
TBCE	Human	microtubule cytoskeleton organization	involved_in	IMP		150520179	PMID:27666369	UniProt	PMID:27666369
TBCE	Human	mitotic spindle organization	involved_in	IMP		150520179	PMID:27666369	UniProt	PMID:27666369
TBCE	Human	muscle atrophy	acts_upstream_of_or_within	IEA	UniProtKB:Q8CIV8 and ensembl:ENSMUSP00000047880	150520179		Ensembl	GO_REF:0000107
TBCE	Human	peripheral nervous system neuron axonogenesis	acts_upstream_of_or_within	IEA	UniProtKB:Q8CIV8 and ensembl:ENSMUSP00000047880	150520179		Ensembl	GO_REF:0000107
TBCE	Human	post-chaperonin tubulin folding pathway	involved_in	IDA		150520179	PMID:11847227	UniProt	PMID:11847227
TBCE	Human	post-chaperonin tubulin folding pathway	involved_in	IBA	PANTHER:PTN001031924 and UniProtKB:Q15813	150520179		GO_Central	GO_REF:0000033
TBCE	Human	post-embryonic development	acts_upstream_of_or_within	IEA	UniProtKB:Q8CIV8 and ensembl:ENSMUSP00000047880	150520179		Ensembl	GO_REF:0000107
TBCE	Human	protein folding	involved_in	TAS		150520179	PMID:8706133	UniProt	PMID:8706133
TBCE	Human	translation	involved_in	IEA	InterPro:IPR001931	150520179		InterPro	GO_REF:0000002
TBCE	Human	tubulin complex assembly	involved_in	IBA	PANTHER:PTN001031924 and SGD:S000000809	150520179		GO_Central	GO_REF:0000033

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)
TBCE	Human	cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0086	150520179		UniProt	GO_REF:0000044
TBCE	Human	cytoplasm	is_active_in	IBA	FB:FBgn0033055 more ...	150520179		GO_Central	GO_REF:0000033
TBCE	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
TBCE	Human	cytoskeleton	located_in	IEA	UniProtKB-KW:KW-0206	150520179		UniProt	GO_REF:0000043
TBCE	Human	cytoskeleton	located_in	IEA	UniProtKB-SubCell:SL-0090	150520179		UniProt	GO_REF:0000044
TBCE	Human	microtubule	located_in	TAS		150520179	PMID:8706133	PINC	PMID:8706133
TBCE	Human	ribonucleoprotein complex	part_of	IEA	UniProtKB-KW:KW-0687	150520179		UniProt	GO_REF:0000043
TBCE	Human	ribosome	located_in	IEA	InterPro:IPR001931	150520179		InterPro	GO_REF:0000002
TBCE	Human	ribosome	located_in	IEA	UniProtKB-KW:KW-0689	150520179		UniProt	GO_REF:0000043

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)
TBCE	Human	alpha-tubulin binding	enables	IBA	PANTHER:PTN001031924 and SGD:S000000809	150520179		GO_Central	GO_REF:0000033
TBCE	Human	catalytic activity	enables	IEA	ARBA:ARBA00027533	150520179		UniProt	GO_REF:0000117
TBCE	Human	prenyltransferase activity	enables	IEA	InterPro:IPR000092	150520179		InterPro	GO_REF:0000002
TBCE	Human	protein binding	enables	IPI	UniProtKB:Q9BTW9	150520179	PMID:27666374	UniProt	PMID:27666374
TBCE	Human	protein-folding chaperone binding	enables	TAS		150520179	PMID:8706133	PINC	PMID:8706133
TBCE	Human	structural constituent of ribosome	enables	IEA	InterPro:IPR001931	150520179		InterPro	GO_REF:0000002

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TBCE	Human	Abnormal dental enamel morphology		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Abnormal pinna morphology		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Abnormality of the dentition		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Absent speech		IAGP		8699517		HPO	MIM:617207
TBCE	Human	Anarthria		IAGP		8699517		HPO	ORPHA:496756
TBCE	Human	Anemia		IAGP		8699517		HPO	MIM:244460
TBCE	Human	Aplasia/Hypoplasia affecting the eye		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Astigmatism		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Ataxia		IAGP		8699517		HPO	MIM:617207
TBCE	Human	Autosomal recessive inheritance		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Autosomal recessive inheritance		IAGP		8699517		HPO	MIM:617207
TBCE	Human	Autosomal recessive inheritance		IAGP		8699517		HPO	MIM:244460
TBCE	Human	Axial hypotonia		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Bifid uvula		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Birth length less than 3rd percentile		IAGP		8699517		HPO	MIM:244460
TBCE	Human	Calvarial osteosclerosis		IAGP		8699517		HPO	MIM:244460
TBCE	Human	Calvarial osteosclerosis		IAGP		8699517		HPO	ORPHA:93324
TBCE	Human	Carious teeth		IAGP		8699517		HPO	MIM:244460
TBCE	Human	Carious teeth		IAGP		8699517		HPO	ORPHA:93324
TBCE	Human	Cellular immunodeficiency		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Cerebellar atrophy		IAGP		8699517		HPO	MIM:617207
TBCE	Human	Cerebellar atrophy		IAGP		8699517		HPO	ORPHA:496756
TBCE	Human	Childhood onset		IAGP		8699517		HPO	MIM:617207
TBCE	Human	Congenital hypoparathyroidism		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Congenital hypoparathyroidism		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Congenital hypoparathyroidism		IAGP		8699517		HPO	ORPHA:93324
TBCE	Human	Congenital hypoparathyroidism		IAGP		8699517		HPO	MIM:244460
TBCE	Human	Congenital onset		IAGP		8699517		HPO	MIM:617207
TBCE	Human	Congenital onset		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Convex nasal ridge		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Convex nasal ridge		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Corneal opacity		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Cortical thickening of long bone diaphyses		IAGP		8699517		HPO	ORPHA:93324
TBCE	Human	Cryptorchidism		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Cryptorchidism		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Decreased circulating parathyroid hormone level		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Decreased response to growth hormone stimulation test		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Decreased skull ossification		IAGP		8699517		HPO	ORPHA:93324
TBCE	Human	Decreased skull ossification		IAGP		8699517		HPO	MIM:244460
TBCE	Human	Deeply set eye		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Deeply set eye		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Delayed closure of the anterior fontanelle		IAGP		8699517		HPO	MIM:244460
TBCE	Human	Delayed cranial suture closure		IAGP		8699517		HPO	ORPHA:93324
TBCE	Human	Delayed myelination		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Delayed skeletal maturation		IAGP		8699517		HPO	ORPHA:93324
TBCE	Human	Delayed skeletal maturation		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Delayed skeletal maturation		IAGP		8699517		HPO	MIM:244460
TBCE	Human	Delayed skeletal maturation		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Depressed nasal bridge		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Depressed nasal bridge		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Developmental regression		IAGP		8699517		HPO	ORPHA:496756
TBCE	Human	Difficulty standing		IAGP		8699517		HPO	ORPHA:496756
TBCE	Human	Distal amyotrophy		IAGP		8699517		HPO	ORPHA:496756
TBCE	Human	Distal amyotrophy		IAGP		8699517		HPO	MIM:617207
TBCE	Human	Dysarthria		IAGP		8699517		HPO	MIM:617207
TBCE	Human	Dysarthria		IAGP		8699517		HPO	ORPHA:496756
TBCE	Human	EMG: chronic denervation signs		IAGP		8699517		HPO	ORPHA:496756
TBCE	Human	Encephalopathy		IAGP		8699517		HPO	MIM:617207
TBCE	Human	Foot dorsiflexor weakness		IAGP		8699517		HPO	ORPHA:496756
TBCE	Human	Foot dorsiflexor weakness		IAGP		8699517		HPO	MIM:617207
TBCE	Human	Frontal bossing		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Full cheeks		IAGP		8699517		HPO	ORPHA:93324
TBCE	Human	Generalized hypotonia		IAGP		8699517		HPO	MIM:617207
TBCE	Human	Generalized hypotonia		IAGP		8699517		HPO	ORPHA:496756
TBCE	Human	Global developmental delay		IAGP		8699517		HPO	MIM:617207
TBCE	Human	Global developmental delay		IAGP		8699517		HPO	ORPHA:496756
TBCE	Human	Growth abnormality		IAGP		8699517		HPO	MIM:617207
TBCE	Human	Growth delay		IAGP		8699517		HPO	ORPHA:496756
TBCE	Human	Growth delay		IAGP		8699517		HPO	ORPHA:93324
TBCE	Human	High forehead		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Hyperphosphatemia		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Hyperphosphatemia		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Hypertelorism		IAGP		8699517		HPO	MIM:244460
TBCE	Human	Hypertelorism		IAGP		8699517		HPO	ORPHA:93324
TBCE	Human	Hypocalcemia		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Hypocalcemia		IAGP		8699517		HPO	ORPHA:93324
TBCE	Human	Hypocalcemia		IAGP		8699517		HPO	MIM:244460
TBCE	Human	Hypocalcemia		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Hypocalcemic seizures		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Hypocalcemic seizures		IAGP		8699517		HPO	ORPHA:93324
TBCE	Human	Hypocalcemic tetany		IAGP		8699517		HPO	ORPHA:93324
TBCE	Human	Hypomagnesemia		IAGP		8699517		HPO	MIM:244460
TBCE	Human	Hypoparathyroidism		IAGP		8699517		HPO	ORPHA:496756
TBCE	Human	Hypoparathyroidism		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Hypoplasia of penis		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Hypoplasia of the corpus callosum		IAGP		8699517		HPO	MIM:617207
TBCE	Human	Hypoplasia of the corpus callosum		IAGP		8699517		HPO	ORPHA:496756
TBCE	Human	Hypoplasia of the corpus callosum		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Infantile onset		IAGP		8699517		HPO	MIM:617207
TBCE	Human	Intellectual disability		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Intellectual disability		IAGP		8699517		HPO	ORPHA:496756
TBCE	Human	Intellectual disability		IAGP		8699517		HPO	MIM:617207
TBCE	Human	Intellectual disability		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Intestinal obstruction		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Intrauterine growth retardation		IAGP		8699517		HPO	MIM:244460
TBCE	Human	Intrauterine growth retardation		IAGP		8699517		HPO	ORPHA:93324
TBCE	Human	Iron accumulation in substantia nigra		IAGP		8699517		HPO	ORPHA:496756
TBCE	Human	Long clavicles		IAGP		8699517		HPO	MIM:244460
TBCE	Human	Long philtrum		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Long philtrum		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Low-set ears		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Microcephaly		IAGP		8699517		HPO	ORPHA:93324
TBCE	Human	Microcephaly		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Microcephaly		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Micrognathia		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Micrognathia		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Micropenis		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Microphthalmia		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Myopathy		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Optic atrophy		IAGP		8699517		HPO	MIM:617207
TBCE	Human	Optic atrophy		IAGP		8699517		HPO	ORPHA:496756
TBCE	Human	Patchy osteosclerosis		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Patchy osteosclerosis		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Peripheral axonal neuropathy		IAGP		8699517		HPO	ORPHA:496756
TBCE	Human	Peripheral axonal neuropathy		IAGP		8699517		HPO	MIM:617207
TBCE	Human	Posteriorly rotated ears		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Posteriorly rotated ears		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Postnatal growth retardation		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Postnatal growth retardation		IAGP		8699517		HPO	ORPHA:93324
TBCE	Human	Postnatal growth retardation		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Progressive		IAGP		8699517		HPO	MIM:617207
TBCE	Human	Progressive encephalopathy		IAGP		8699517		HPO	ORPHA:496756
TBCE	Human	Progressive spastic paraparesis		IAGP		8699517		HPO	ORPHA:496756
TBCE	Human	Prominent forehead		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Proportionate short stature		IAGP		8699517		HPO	MIM:244460
TBCE	Human	Recurrent bacterial infections		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Recurrent bacterial infections		IAGP		8699517		HPO	MIM:244460
TBCE	Human	Recurrent respiratory infections		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Scoliosis		IAGP		8699517		HPO	MIM:617207
TBCE	Human	Scoliosis		IAGP		8699517		HPO	ORPHA:496756
TBCE	Human	Seizure		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Seizure		IAGP		8699517		HPO	ORPHA:496756
TBCE	Human	Seizure		IAGP		8699517		HPO	MIM:617207
TBCE	Human	Seizure		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Seizure		IAGP		8699517		HPO	MIM:244460
TBCE	Human	Severe intrauterine growth retardation		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Severe intrauterine growth retardation		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Short foot		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Short foot		IAGP		8699517		HPO	ORPHA:93324
TBCE	Human	Short foot		IAGP		8699517		HPO	MIM:244460
TBCE	Human	Short foot		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Short palm		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Short palm		IAGP		8699517		HPO	MIM:244460
TBCE	Human	Short stature		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Slender long bone		IAGP		8699517		HPO	MIM:244460
TBCE	Human	Small hand		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Small hand		IAGP		8699517		HPO	ORPHA:93324
TBCE	Human	Small hand		IAGP		8699517		HPO	MIM:244460
TBCE	Human	Small hand		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Spastic ataxia		IAGP		8699517		HPO	ORPHA:496756
TBCE	Human	Spastic tetraparesis		IAGP		8699517		HPO	ORPHA:496756
TBCE	Human	Spastic tetraplegia		IAGP		8699517		HPO	MIM:617207
TBCE	Human	Spasticity		IAGP		8699517		HPO	MIM:617207
TBCE	Human	Spinal canal stenosis		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Spinal muscular atrophy		IAGP		8699517		HPO	ORPHA:496756
TBCE	Human	Spinal muscular atrophy		IAGP		8699517		HPO	MIM:617207
TBCE	Human	Stenosis of the medullary cavity of the long bones		IAGP		8699517		HPO	ORPHA:93324
TBCE	Human	Tetany		IAGP		8699517		HPO	MIM:244460
TBCE	Human	Tetany		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Thin clavicles		IAGP		8699517		HPO	MIM:244460
TBCE	Human	Thin clavicles		IAGP		8699517		HPO	ORPHA:93324
TBCE	Human	Thin long bone diaphyses		IAGP		8699517		HPO	ORPHA:93324
TBCE	Human	Thin ribs		IAGP		8699517		HPO	MIM:244460
TBCE	Human	Thin ribs		IAGP		8699517		HPO	ORPHA:93324
TBCE	Human	Thin upper lip vermilion		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Thin vermilion border		IAGP		8699517		HPO	ORPHA:2323
TBCE	Human	Thin vermilion border		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Ventriculomegaly		IAGP		8699517		HPO	MIM:241410
TBCE	Human	Ventriculomegaly		IAGP		8699517		HPO	ORPHA:2323

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TBCE	Human	Gastrointestinal stroma tumor		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Gastrointestinal stromal tumor	ClinVar	PMID:28492532
TBCE	Human	Microcephaly		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Microcephaly	ClinVar	PMID:25741868 and PMID:28492532
TBCE	Human	Parathyroid carcinoma		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Parathyroid carcinoma	ClinVar	PMID:28492532

#	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.	Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.	Parvari R, etal., Nat Genet. 2002 Nov;32(3):448-52. Epub 2002 Oct 21.
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:8567715	PMID:8706133	PMID:9265649	PMID:9634513	PMID:9806825	PMID:9891010	PMID:11847227	PMID:12389029	PMID:12446740	PMID:12477932	PMID:12665801	PMID:14702039
PMID:15489334	PMID:16344560	PMID:16710414	PMID:16712791	PMID:17008776	PMID:17184771	PMID:18029348	PMID:18262179	PMID:19168853	PMID:19297412	PMID:19491227	PMID:19557161
PMID:20103624	PMID:20201926	PMID:20204449	PMID:20379614	PMID:21873635	PMID:22863883	PMID:22940919	PMID:23973072	PMID:25908846	PMID:25921289	PMID:26186194	PMID:26231322
PMID:26344197	PMID:26638075	PMID:27173435	PMID:27666369	PMID:27666374	PMID:28514442	PMID:28583220	PMID:28718761	PMID:28986522	PMID:30638765	PMID:32176739	PMID:32275946
PMID:32694731	PMID:32994395	PMID:33462405	PMID:33845483	PMID:33961781	PMID:34079125	PMID:34373451	PMID:34709727	PMID:34941261	PMID:35032548	PMID:35063084	PMID:35256949
PMID:35271311	PMID:35384245	PMID:35509820	PMID:35831314	PMID:35944360	PMID:36215168	PMID:36258138	PMID:36897256	PMID:37314216	PMID:37827155	PMID:38177924	PMID:39147351
PMID:39231216

TBCE
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	235,367,427 - 235,452,443 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	235,367,360 - 235,452,443 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	235,530,742 - 235,615,756 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	233,597,351 - 233,678,903 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	231,856,811 - 231,938,321	NCBI
Celera	1	208,773,486 - 208,855,524 (+)	NCBI		Celera
Cytogenetic Map	1	q42.3	NCBI
HuRef	1	205,979,723 - 206,063,927 (+)	NCBI		HuRef
CHM1_1	1	236,803,044 - 236,884,877 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	234,759,155 - 234,848,336 (+)	NCBI		T2T-CHM13v2.0

Tbce
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	13	14,172,532 - 14,214,235 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	13	14,172,534 - 14,214,223 (-)	Ensembl		GRCm39 Ensembl
GRCm38	13	13,997,947 - 14,039,650 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	13	13,997,949 - 14,039,638 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	13	14,090,218 - 14,131,867 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	13	13,790,077 - 13,831,726 (-)	NCBI		MGSCv36	mm8
Celera	13	14,305,650 - 14,346,667 (-)	NCBI		Celera
Cytogenetic Map	13	A1	NCBI
cM Map	13	5.29	NCBI

Tbce
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	17	55,983,627 - 56,031,578 (+)	NCBI		GRCr8
mRatBN7.2	17	51,290,143 - 51,336,090 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	17	51,290,202 - 51,336,089 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	17	54,459,035 - 54,504,526 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	17	58,461,975 - 58,507,461 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	17	52,593,177 - 52,638,508 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	17	53,983,126 - 54,029,028 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	17	53,983,182 - 54,029,027 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	17	51,676,746 - 51,723,130 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	17	59,485,451 - 59,533,041 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	17	59,496,283 - 59,543,873 (+)	NCBI
Celera	17	47,297,977 - 47,343,424 (+)	NCBI		Celera
Cytogenetic Map	17	q12.1	NCBI

Tbce
(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_004955492	4,502,897 - 4,558,697 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955492	4,502,705 - 4,573,126 (-)	NCBI	ChiLan1.0	ChiLan1.0

TBCE
(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	1	13,729,178 - 13,856,775 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	13,941,276 - 14,044,027 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	210,881,078 - 211,008,686 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	215,929,658 - 216,020,613 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	215,929,658 - 216,020,613 (+)	Ensembl	panpan1.1		panPan2

TBCE
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	4	4,490,892 - 4,569,401 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	4	4,490,994 - 4,569,357 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	4	4,473,098 - 4,551,614 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	4	4,512,625 - 4,591,187 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	4	4,512,629 - 4,591,155 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	4	4,523,866 - 4,602,326 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	4	4,641,317 - 4,719,844 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	4	4,862,950 - 4,941,668 (-)	NCBI		UU_Cfam_GSD_1.0

Tbce
(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_024409344	40,882,963 - 40,931,750 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936484	17,046,284 - 17,095,744 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936484	17,048,187 - 17,097,414 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TBCE
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	14	55,816,668 - 55,901,171 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	14	55,816,663 - 55,901,215 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	14	59,954,790 - 59,986,383 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

TBCE
(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	25	72,544,942 - 72,616,716 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	25	72,545,012 - 72,612,622 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666055	74,568,863 - 74,652,576 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Tbce
(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_004624775	15,067,044 - 15,133,008 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624775	15,067,044 - 15,132,690 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in TBCE
582 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:	758
Count of miRNA genes:	496
Interacting mature miRNAs:	554
Transcripts:	ENST00000366601, ENST00000406207, ENST00000461651, ENST00000465463, ENST00000472011, ENST00000482230, ENST00000543662
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
597029716	GWAS1125790_H	self reported educational attainment QTL GWAS1125790 (human)		5e-08	self reported educational attainment		1	235436814	235436815	Human
597085524	GWAS1181598_H	type 2 diabetes mellitus QTL GWAS1181598 (human)		7e-10	type 2 diabetes mellitus		1	235378708	235378709	Human
597108533	GWAS1204607_H	mathematical ability QTL GWAS1204607 (human)		5e-14	mathematical ability		1	235395489	235395490	Human
597347513	GWAS1443587_H	lean body mass QTL GWAS1443587 (human)		8e-11	body lean mass (VT:0010483)	total body lean mass (CMO:0003950)	1	235407319	235407320	Human
597085489	GWAS1181563_H	type 2 diabetes mellitus QTL GWAS1181563 (human)		2e-11	type 2 diabetes mellitus		1	235378708	235378709	Human
597115967	GWAS1212041_H	mathematical ability QTL GWAS1212041 (human)		1e-10	mathematical ability		1	235413634	235413635	Human
597121246	GWAS1217320_H	blood protein measurement QTL GWAS1217320 (human)		2e-21	blood protein amount (VT:0005416)	blood protein measurement (CMO:0000028)	1	235410171	235410172	Human
597418706	GWAS1514780_H	self reported educational attainment QTL GWAS1514780 (human)		2e-12	self reported educational attainment		1	235433937	235433938	Human
597026232	GWAS1122306_H	blood protein measurement QTL GWAS1122306 (human)		2e-09	blood protein amount (VT:0005416)	blood protein measurement (CMO:0000028)	1	235431636	235431637	Human
597507472	GWAS1603546_H	self reported educational attainment QTL GWAS1603546 (human)		2e-16	self reported educational attainment		1	235433937	235433938	Human
597108421	GWAS1204495_H	mathematical ability QTL GWAS1204495 (human)		3e-14	mathematical ability		1	235413634	235413635	Human
597181290	GWAS1277364_H	body mass index QTL GWAS1277364 (human)		2e-08	body mass index	body mass index (BMI) (CMO:0000105)	1	235417067	235417068	Human
406912246	GWAS561222_H	obesity QTL GWAS561222 (human)		0.0000003	obesity		1	235436814	235436815	Human
597181088	GWAS1277162_H	tubulin-specific chaperone E measurement QTL GWAS1277162 (human)		6e-16	tubulin-specific chaperone E measurement		1	235401609	235401610	Human
597116110	GWAS1212184_H	cognitive function measurement QTL GWAS1212184 (human)		8e-11	cognitive behavior trait (VT:0010450)		1	235412006	235412007	Human
597181089	GWAS1277163_H	tubulin-specific chaperone E measurement QTL GWAS1277163 (human)		1e-33	tubulin-specific chaperone E measurement		1	235432275	235432276	Human
597053295	GWAS1149369_H	household income QTL GWAS1149369 (human)		8e-10	household income		1	235436814	235436815	Human
597432293	GWAS1528367_H	protein measurement QTL GWAS1528367 (human)		1e-11	protein measurement		1	235446429	235446430	Human
597240675	GWAS1336749_H	educational attainment QTL GWAS1336749 (human)		2e-10	educational attainment		1	235436814	235436815	Human
597321734	GWAS1417808_H	educational attainment QTL GWAS1417808 (human)		1e-22	educational attainment		1	235391434	235391435	Human
597469120	GWAS1565194_H	mathematical ability QTL GWAS1565194 (human)		3e-19	mathematical ability		1	235433937	235433938	Human

SGC38288

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	235,599,741 - 235,599,993	UniSTS	GRCh37
Build 36	1	233,666,364 - 233,666,616	RGD	NCBI36
Celera	1	208,842,985 - 208,843,237	RGD
Cytogenetic Map	1	q42.3	UniSTS
HuRef	1	206,051,361 - 206,051,613	UniSTS
GeneMap99-GB4 RH Map	1	740.49	UniSTS
Whitehead-RH Map	1	910.4	UniSTS

AL010041

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	235,572,240 - 235,572,382	UniSTS	GRCh37
Build 36	1	233,638,863 - 233,639,005	RGD	NCBI36
Celera	1	208,814,999 - 208,815,141	RGD
Cytogenetic Map	1	q42.3	UniSTS
HuRef	1	206,019,984 - 206,020,126	UniSTS

RH119203

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	235,601,914 - 235,602,195	UniSTS	GRCh37
Build 36	1	233,668,537 - 233,668,818	RGD	NCBI36
Celera	1	208,845,158 - 208,845,439	RGD
Cytogenetic Map	1	q42.3	UniSTS
HuRef	1	206,053,534 - 206,053,815	UniSTS

SHGC-148032

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	235,539,372 - 235,539,674	UniSTS	GRCh37
Build 36	1	233,605,995 - 233,606,297	RGD	NCBI36
Celera	1	208,782,133 - 208,782,435	RGD
Cytogenetic Map	1	q42.3	UniSTS
HuRef	1	205,987,151 - 205,987,453	UniSTS

SHGC-76555

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	235,599,736 - 235,599,898	UniSTS	GRCh37
Build 36	1	233,666,359 - 233,666,521	RGD	NCBI36
Celera	1	208,842,980 - 208,843,142	RGD
Cytogenetic Map	1	q42.3	UniSTS
HuRef	1	206,051,356 - 206,051,518	UniSTS
GeneMap99-GB4 RH Map	1	744.13	UniSTS

RH70688

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	235,612,124 - 235,612,246	UniSTS	GRCh37
Build 36	1	233,678,747 - 233,678,869	RGD	NCBI36
Celera	1	208,855,368 - 208,855,490	RGD
Cytogenetic Map	1	q42.3	UniSTS
HuRef	1	206,063,771 - 206,063,893	UniSTS
GeneMap99-GB4 RH Map	1	740.49	UniSTS
NCBI RH Map	1	2023.7	UniSTS

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

alimentary part of gastrointestinal system	circulatory system	ectoderm	endocrine system	endoderm	exocrine system	hemolymphoid system	hepatobiliary system	mesenchyme	mesoderm	nervous system	renal system	reproductive system	respiratory system
2	38	62	42	48	42	622	42	742	666	62	32	52	6


RefSeq Transcripts	NG_009230	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001079515	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001287801	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001287802	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_003193	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC206484	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK093397	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK292287	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK296185	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK298050	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL357556	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC008654	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BF064027	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BT007086	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CB110473	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471098	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA418943	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA981183	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FO393422	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U61232	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000366601 ⟹ ENSP00000355560

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,430 - 235,448,944 (+)	Ensembl

Ensembl Acc Id:

ENST00000406207 ⟹ ENSP00000384571

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,413 - 235,449,078 (+)	Ensembl

Ensembl Acc Id:

ENST00000461651

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,418,468 - 235,433,066 (+)	Ensembl

Ensembl Acc Id:

ENST00000465463

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,440,822 - 235,448,951 (+)	Ensembl

Ensembl Acc Id:

ENST00000472011

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,450 - 235,448,932 (+)	Ensembl

Ensembl Acc Id:

ENST00000482230

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,414,487 - 235,434,280 (+)	Ensembl

Ensembl Acc Id:

ENST00000543662 ⟹ ENSP00000439170

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,430 - 235,448,899 (+)	Ensembl

Ensembl Acc Id:

ENST00000642339 ⟹ ENSP00000495425

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,380,019 - 235,448,968 (+)	Ensembl

Ensembl Acc Id:

ENST00000642372 ⟹ ENSP00000495295

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,380,054 - 235,436,559 (+)	Ensembl

Ensembl Acc Id:

ENST00000642431 ⟹ ENSP00000494990

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,342,252 - 235,448,929 (+)	Ensembl

Ensembl Acc Id:

ENST00000642463 ⟹ ENSP00000495007

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,413 - 235,448,899 (+)	Ensembl

Ensembl Acc Id:

ENST00000642503 ⟹ ENSP00000494334

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,328,736 - 235,448,741 (+)	Ensembl

Ensembl Acc Id:

ENST00000642610 ⟹ ENSP00000494796

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,427 - 235,452,443 (+)	Ensembl

Ensembl Acc Id:

ENST00000642764

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,433,351 - 235,448,924 (+)	Ensembl

Ensembl Acc Id:

ENST00000642926

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,420 - 235,416,073 (+)	Ensembl

Ensembl Acc Id:

ENST00000642981

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,434,155 - 235,436,579 (+)	Ensembl

Ensembl Acc Id:

ENST00000643125 ⟹ ENSP00000494102

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,391 - 235,448,926 (+)	Ensembl

Ensembl Acc Id:

ENST00000643142 ⟹ ENSP00000494755

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,430 - 235,448,940 (+)	Ensembl

Ensembl Acc Id:

ENST00000643238 ⟹ ENSP00000495916

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,455 - 235,442,973 (+)	Ensembl

Ensembl Acc Id:

ENST00000643410 ⟹ ENSP00000495030

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,328,573 - 235,448,944 (+)	Ensembl

Ensembl Acc Id:

ENST00000643418 ⟹ ENSP00000495711

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,328,570 - 235,435,840 (+)	Ensembl

Ensembl Acc Id:

ENST00000643487

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,429,458 - 235,448,949 (+)	Ensembl

Ensembl Acc Id:

ENST00000643524 ⟹ ENSP00000494026

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,430 - 235,448,944 (+)	Ensembl

Ensembl Acc Id:

ENST00000643615 ⟹ ENSP00000496103

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,430 - 235,448,918 (+)	Ensembl

Ensembl Acc Id:

ENST00000643758 ⟹ ENSP00000496048

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,328,959 - 235,401,587 (+)	Ensembl

Ensembl Acc Id:

ENST00000643993

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,493 - 235,448,727 (+)	Ensembl

Ensembl Acc Id:

ENST00000643994 ⟹ ENSP00000496322

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,426 - 235,448,963 (+)	Ensembl

Ensembl Acc Id:

ENST00000644037 ⟹ ENSP00000496408

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,430 - 235,448,951 (+)	Ensembl

Ensembl Acc Id:

ENST00000644055 ⟹ ENSP00000496307

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,328,570 - 235,448,952 (+)	Ensembl

Ensembl Acc Id:

ENST00000644126

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,429,111 - 235,448,746 (+)	Ensembl

Ensembl Acc Id:

ENST00000644217 ⟹ ENSP00000494646

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,380,047 - 235,448,881 (+)	Ensembl

Ensembl Acc Id:

ENST00000644265 ⟹ ENSP00000496033

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,401,519 - 235,441,823 (+)	Ensembl

Ensembl Acc Id:

ENST00000644578 ⟹ ENSP00000495953

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,422 - 235,448,962 (+)	Ensembl

Ensembl Acc Id:

ENST00000644604 ⟹ ENSP00000495961

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,362,954 - 235,448,932 (+)	Ensembl

Ensembl Acc Id:

ENST00000644625

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,430 - 235,416,142 (+)	Ensembl

Ensembl Acc Id:

ENST00000644680 ⟹ ENSP00000496173

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,328,773 - 235,448,756 (+)	Ensembl

Ensembl Acc Id:

ENST00000644838 ⟹ ENSP00000495910

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,430 - 235,448,934 (+)	Ensembl

Ensembl Acc Id:

ENST00000644910 ⟹ ENSP00000495738

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,414,561 - 235,448,924 (+)	Ensembl

Ensembl Acc Id:

ENST00000645069 ⟹ ENSP00000496644

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,328,767 - 235,430,795 (+)	Ensembl

Ensembl Acc Id:

ENST00000645205 ⟹ ENSP00000495823

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,328,573 - 235,448,944 (+)	Ensembl

Ensembl Acc Id:

ENST00000645351 ⟹ ENSP00000494319

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,328,573 - 235,448,951 (+)	Ensembl

Ensembl Acc Id:

ENST00000645372 ⟹ ENSP00000496612

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,424 - 235,434,233 (+)	Ensembl

Ensembl Acc Id:

ENST00000645551 ⟹ ENSP00000495928

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,431 - 235,448,782 (+)	Ensembl

Ensembl Acc Id:

ENST00000645578 ⟹ ENSP00000496495

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,330,467 - 235,448,940 (+)	Ensembl

Ensembl Acc Id:

ENST00000645582 ⟹ ENSP00000494980

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,426 - 235,448,966 (+)	Ensembl

Ensembl Acc Id:

ENST00000645655 ⟹ ENSP00000495202

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,328,570 - 235,448,951 (+)	Ensembl

Ensembl Acc Id:

ENST00000645662 ⟹ ENSP00000495964

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,486 - 235,438,909 (+)	Ensembl

Ensembl Acc Id:

ENST00000645836 ⟹ ENSP00000493915

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,328,575 - 235,448,924 (+)	Ensembl

Ensembl Acc Id:

ENST00000645899 ⟹ ENSP00000496773

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,416 - 235,448,617 (+)	Ensembl

Ensembl Acc Id:

ENST00000645964 ⟹ ENSP00000494208

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,495 - 235,448,919 (+)	Ensembl

Ensembl Acc Id:

ENST00000646104 ⟹ ENSP00000495475

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,470 - 235,448,929 (+)	Ensembl

Ensembl Acc Id:

ENST00000646186 ⟹ ENSP00000493806

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,430 - 235,448,924 (+)	Ensembl

Ensembl Acc Id:

ENST00000646281 ⟹ ENSP00000495225

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,328,736 - 235,437,468 (+)	Ensembl

Ensembl Acc Id:

ENST00000646286 ⟹ ENSP00000494291

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,430 - 235,448,932 (+)	Ensembl

Ensembl Acc Id:

ENST00000646384

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,430 - 235,415,990 (+)	Ensembl

Ensembl Acc Id:

ENST00000646463 ⟹ ENSP00000494541

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,430 - 235,448,951 (+)	Ensembl

Ensembl Acc Id:

ENST00000646495

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,423,628 - 235,433,085 (+)	Ensembl

Ensembl Acc Id:

ENST00000646528 ⟹ ENSP00000496553

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,328,571 - 235,448,924 (+)	Ensembl

Ensembl Acc Id:

ENST00000646536 ⟹ ENSP00000494801

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,430 - 235,448,944 (+)	Ensembl

Ensembl Acc Id:

ENST00000646624 ⟹ ENSP00000494575

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,328,571 - 235,448,934 (+)	Ensembl

Ensembl Acc Id:

ENST00000646661

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,441,764 - 235,448,856 (+)	Ensembl

Ensembl Acc Id:

ENST00000646821 ⟹ ENSP00000495257

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,449 - 235,448,951 (+)	Ensembl

Ensembl Acc Id:

ENST00000646842

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,419,432 - 235,441,875 (+)	Ensembl

Ensembl Acc Id:

ENST00000646848 ⟹ ENSP00000495831

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,430 - 235,448,791 (+)	Ensembl

Ensembl Acc Id:

ENST00000646929 ⟹ ENSP00000493539

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,380,073 - 235,430,804 (+)	Ensembl

Ensembl Acc Id:

ENST00000647151 ⟹ ENSP00000495125

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,441,870 - 235,448,963 (+)	Ensembl

Ensembl Acc Id:

ENST00000647186 ⟹ ENSP00000494775

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,328,571 - 235,448,929 (+)	Ensembl

Ensembl Acc Id:

ENST00000647233

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,420 - 235,448,952 (+)	Ensembl

Ensembl Acc Id:

ENST00000647322 ⟹ ENSP00000493737

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,419,511 - 235,448,918 (+)	Ensembl

Ensembl Acc Id:

ENST00000647332 ⟹ ENSP00000495024

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,430 - 235,437,387 (+)	Ensembl

Ensembl Acc Id:

ENST00000647338

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,419,079 - 235,427,174 (+)	Ensembl

Ensembl Acc Id:

ENST00000647407 ⟹ ENSP00000495319

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,426 - 235,430,780 (+)	Ensembl

Ensembl Acc Id:

ENST00000647418 ⟹ ENSP00000493552

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,423 - 235,448,951 (+)	Ensembl

Ensembl Acc Id:

ENST00000647428 ⟹ ENSP00000495630

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,328,570 - 235,448,880 (+)	Ensembl

Ensembl Acc Id:

ENST00000647489 ⟹ ENSP00000494232

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,430 - 235,427,147 (+)	Ensembl

Ensembl Acc Id:

ENST00000651186 ⟹ ENSP00000498645

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	235,367,360 - 235,448,966 (+)	Ensembl

RefSeq Acc Id:

NM_001079515 ⟹ NP_001072983

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	235,367,427 - 235,452,443 (+)	NCBI
GRCh37	1	235,530,728 - 235,612,280 (+)	ENTREZGENE
GRCh37	1	235,530,728 - 235,612,280 (+)	NCBI
Build 36	1	233,597,351 - 233,678,903 (+)	NCBI Archive
HuRef	1	205,979,670 - 206,063,930 (+)	NCBI
CHM1_1	1	236,802,991 - 236,884,880 (+)	NCBI
T2T-CHM13v2.0	1	234,759,155 - 234,848,336 (+)	NCBI

Sequence:

show sequence

GCCAGAGCCTCAAGCTTCGCTGCTGGGCAGTTGGCTGGAGGGGCTGCTGCTGGGAACACCTGGAGTCTCCGCGGGCAGGTGAGCTTCAGAGGTTCGGGGAGCTTTCGGAACGAGCATTCCTGGCCGAT
CTCATATTTTGGATTCTGGATATATTATAATGAGTGACACTTTGACAGCGGATGTCATTGGTCGAAGAGTTGAAGTTAATGGAGAACATGCAACAGTACGTTTTGCTGGTGTTGTCCCTCCCGTGGCA
GGACCCTGGTTAGGAGTAGAATGGGACAATCCCGAGAGAGGAAAGCATGATGGGAGCCACGAAGGGACTGTGTATTTTAAATGCAGGCACCCGACAGGAGGATCCTTTATTCGTCCGAACAAGGTAAA
TTTTGGAACAGACTTTCTTACTGCAATTAAGAACCGCTATGTGTTAGAAGATGGACCAGAGGAAGATAGAAAAGAGCAAATTGTTACAATTGGAAATAAACCTGTGGAGACTATCGGTTTTGACTCTA
TTATGAAACAGCAAAGTCAGCTGAGCAAGTTGCAAGAAGTTTCTCTGAGGAACTGTGCAGTAAGTTGTGCTGGTGAAAAAGGAGGAGTTGCTGAAGCATGTCCTAATATCAGAAAGGTAGATTTGTCA
AAAAACCTGTTGTCATCATGGGATGAAGTGATACACATTGCTGATCAGCTCAGACACCTGGAAGTCCTTAATGTCAGTGAAAATAAACTAAAATTTCCCTCCGGTTCAGTATTAACTGGAACGCTTTC
TGTACTGAAGGTTTTAGTCCTCAATCAAACAGGAATAACGTGGGCTGAGGTGCTGCGGTGTGTCGCGGGGTGCCCAGGCCTGGAGGAACTCTACCTTGAGTCTAACAACATTTTCATTTCCGAAAGGC
CAACAGATGTTCTCCAGACAGTCAAGTTATTAGATCTTTCCTCTAATCAATTAATTGATGAAAATCAGCTGTATCTGATAGCCCACCTGCCCAGGTTAGAACAATTAATCCTCTCTGACACTGGAATT
TCTTCTCTACATTTTCCGGATGCTGGAATTGGGTGCAAAACGTCCATGTTCCCATCCTTGAAGTACCTGGTAGTAAACGACAATCAGATATCACAATGGTCGTTTTTCAATGAGCTAGAGAAGTTACC
AAGTCTACGGGCTTTGTCCTGCCTAAGAAACCCCCTGACCAAAGAGGACAAAGAAGCAGAGACGGCGCGACTACTCATTATCGCCAGCATTGGCCAGCTGAAGACGCTGAACAAATGTGAGATTCTCC
CCGAGGAGAGGCGGAGAGCTGAGCTTGACTACCGAAAAGCTTTTGGAAATGAGTGGAAACAGGCTGGTGGACATAAGGATCCGGAAAAAAACAGACTCAGCGAAGAATTCCTCACAGCCCATCCCAGA
TACCAGTTCCTCTGCCTGAAATATGGTGCACCTGAAGATTGGGAACTCAAAACACAGCAACCACTTATGCTGAAAAACCAGCTACTAACACTGAAGATAAAATACCCTCATCAACTTGATCAGAAAGT
CCTGGAGAAACAACTGCCGGGCTCCATGACAATTCAAAAGGTGAAGGGATTGCTGTCACGTCTTCTCAAAGTTCCTGTGTCAGACCTTCTGTTGTCCTATGAAAGTCCCAAAAAGCCGGGCAGAGAAA
TCGAGCTGGAAAATGACCTAAAGTCATTACAGTTTTATTCTGTGGAAAATGGAGATTGTCTATTAGTGCGATGGTGACAACCAACTAATAAAATTTAAAGACCACACTGCTTATCGTGTCTGGGGTTC
ACCGGAAATAAATGATTCACTGGAACAATTCTACTGTCAAAACAAAGGGGGTTTACAACTTGTCCTAAGTATAACAAGGGATGTATTTTTTGTTGGGAAGTGACCATTTCTAGGCTTATACATAATAG
CAATAATAAAGGCTTTGAACCTACTAATGATTTTCTGATCTTATTTCATATTTATTTTTACAGCTCATCACTGCATTTCATGATAAGATTTAAATATTAAATAGAAAGAAACTAGCTAGCCTAATAAA
ATCTGAACACAGTTAATATCTGTCATAAGACTAGTTTTAATGGAATTCTCTATTGAAACTACTATTTTAAAGGGTTACTAGAAATGATTTGGTTGGTCATTTTGGGAAATGTCCCTTAAACTTGGGGA
GACATCCTCTACTATGTATAACAATATGCTATTATCTGTCTTCTCAGTTGCACTATTTCTAAGAGTACTTAAATTAATCACATGCTTTTCCCTACAATTATACCTAAGCTGAGTATATCTTCTTCTGT
GATAACCAGCTTTGATTGAAATGTACTCATATTAGGTAAACATTAGGCAATGATAGGAGGAAAGCAAAACTAATTCTTTCAAAATGTCAACAAAATTTAGAAATATCCTTCCCGATGGCACTAAAACC
CTGAGAGGTATTTGCTTTTATTCATACTCACACAACTTTAGCATTTAAAAACTATGAGTACTAAACTGTGACCTTCAGGATTTATGTTAGATGGCAGAAAGAAAATTTGGGTATTAGTCTACCATATA
AATGAACTTCTTTAAAACCAAGGTTCAGAACTGAGAATCATATTGGTTCCTCTTCAAGTTAGTTCAAGTTGCCCACTTCAGAGATCCACAAAATCTGACATTATTTCCAGAAACCCCAAACTTTGGTA
TAAGTGACCACTGCTCAAATATGTGATCACATGATCACACAGCATTCCTGTGAGTTCCTTTTTGTCTGATAATTATCCTAATTAGCTCTACAGAGCTATCCTGCAATCCAGGTTGAAATTCAAACTCT
CAGTTACTACTACAGATTTCTGAACTAGGCCAAGTTTTAACCAAAAACTATAGGTAATGGTGAATTACTAATTAGCCACAATGCATCAGGATTTAGAAATATTTTTTCTTTTATAAAATAACTTGGTA
TTTTTCTGATAATCTTCCAATAGATAAATAAAAACTTTTCTTATGCTACAGTACAAGTTGATTTTTAAGGAAATTTGTGCAAACATTAAGAAACACCGCATTGGTTCTGGGTGAAAGTGCCAGTCTGG
AACTCTCTTGAAAGACCATACAGTCTACTGCTAAACCCTGGGACTCCTCAGACTTGCACTCAGATTATCGTTTGCCTGCCCTGATTTTAGACTCTGCTAATTCAAGTCCCTGTTATCTTGCTTGACAT
CGACAAGGATCACCGCACCGTTCCTTCAGTTTCCACAGTTCCGTCAGTTCCCACGGAGAATACTGAGGAGAAGACAGCATTCCTGTCTCACAGGTCTTCTCACACAGCCACAGACTGTCCTGTTGAGA
AACAACCAAAGCCGATCTGAGAGTGGTGAAACTGTTTTAAGAGCATCAGAAAGTATGCACGTAGACAGCTTTTATGTATTCTAATGATGCTGAAATTATTTCAAGGATAACTCCGTGTGTGGAACAAC
TGGTGAGGTTTGGGGGTGGCACCTCCTGATTTGGGAAAGCACCAGGTCCCACAGTCCTGTGGCTGTGGAATACAGAAACAAGGCGGTGTGTGGATGAAGAGTTAGTCAACAAATGCCATTCCGTAATG
AACGATTTTAGAAACCACAAGTGAGTTTCATGTTTGCTAGTAAAGGTGTGTCTATGGCAGTATTAGTAACAGCTATTATTCTGATGGAATGCTTACAATATTGCAGGGACTGTACCAAGTGCTTTGTA
AATATCTCACTTAAATCTCACAGTAATGCTGTGAGGTAGGAACTATTTCCCTCTTAACAATTGAGGAACAAACGAAGAGTTAAAAAACTTGTTCCAGGTCACAGGGCTGGTAAATGAAGAGGAGGGAT
TAAAGACTCCCAAGCTCAAGTTCTTAACCACTAGACTATTTCCTAGCTACGTGAATTGGTTTCTATTTCCAGCAATGTAGCAGAACACAGAGAGAAACTCATTCAATGTTTTGACAACACAAAAATGT
TGGATAAAATTAAAAACCTTTATAAAGCATGGCTCAACTCCGTGATCAAAGAAGAAACAGGGTAGGAGAAAGCACTGAGTCAGCCTGTGCCTTGAAGGCAGCTGCTGATCCTTGGGTTTGGAAGGCCA
AGCCCAGGGTCAGGAGACTAATGGGAGACTGACACAGAGCTAGGATCTCTGAGGGGCCACAGCCTCAGGGGTGATAAAACAAAACACACTCAGCTTGTCTGTCTCAGTCTTGCCCCTCAGTGGGATGG
AAAGGAGTCTCTCTCCCCTCAGTGCCTACCCACAGCTTGCACTTAGGTAGGTCTGGGGCTGGTAGTCAGTCTGTGTAAGCCCAACAGTTCCAAGCCAAAAATCTGAAGTATTCATAGATGGTAGTATT
CCTAGATGCATGGCAGAAAAAAATGTAAATATGTAAATCCTCTCTGTAGGAATGCATTTTAAATAGAGGACTCAGTTTCCAAAGACATGAGATGGTCACAAAAAAAAAAAAAAAAAAAAGACCGCATC
AGAAAACAAGCGCCATGAACAACAGTTGTAGAAACAACAAACTGCAAAATCAGACCCAGCAAAGACTACAGATCCCAGAATTACCAGATACAAAAAAGAATTATATTCAAAGATGAGACAAAGTACAG
CAAAGGAATCAGACTATCAAAGTGGACCATGTAGATGTGGGTTGATTTCTTGTCCTGGACTGAGAGCTGCTCTGGGACCCCAGCTCTATGCAGGGCTTCTAACTGACAGACACTGCATGTGCCTTCTG
TCCCCTGCACCTTCGATGGCCAAAGTGGAAGCTGCAAGAATCCAGAACAGAAATCTCTGAAGCTAAAGCCAGCTTTGTGCTTGATTTCTTCCCAGGGCTCTAGTTTCCATTTTGGTCTCTGCAGATTC
ATTTTTTTTTCTGGTTCAGCAATACTGTGTTTTAAATGATGTCTTATATTTCATGCAGTGTCTTATTTTTATCGGTCAGAAGGGTTGAAGGATCCTTAGACTGCCACACTCAATCAGTGGATTCTGTC
GTTCAGTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCTTGGCTCACTGCAAGCTCTGCCCCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGT
AGCTGGGACCACAGGCGCCCGCCACTATGCCTGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCTGCCCGCCTCGGCC
TTCTGTTGTTAAGTTTTAAAGCTGCAAATAATTTCTGATCAAATCTATGGAAACTGAGTTTTTTTGTAGGCAGGGGAACGTTGATTTATAACCTTTTGCTTTAAACTCAGAAAAATACTGTATGAGAA
ATAACCTAGTGGATTATTGTGAATTAAAGCAACAGCATAACTATTA

hide sequence

RefSeq Acc Id:

NM_001287801 ⟹ NP_001274730

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	235,367,427 - 235,452,443 (+)	NCBI
HuRef	1	205,979,670 - 206,063,930 (+)	NCBI
CHM1_1	1	236,802,991 - 236,884,880 (+)	NCBI
T2T-CHM13v2.0	1	234,759,155 - 234,848,336 (+)	NCBI

Sequence:

show sequence

GCCAGAGCCTCAAGCTTCGCTGCTGGGCAGTTGGCTGGAGGGGCTGCTGCTGGGAACACCTGGA
GTCTCCGCGGGCAGATCTCATATTTTGGATTCTGGATATATTATAATGAGTGACACTTTGACAGCGGATGTCATTGGTCGAAGAGTTGAAGTTAATGGAGAACATGCAACAGTACGTTTTGCTGGTGT
TGTCCCTCCCGTGGCAGGACCCTGGTTAGGAGTAGAATGGGACAATCCCGAGAGAGGAAAGCATGATGGGAGCCACGAAGGGACTGTGTATTTTAAATGCAGGCACCCGACAGGAGGATCCTTTATTC
GTCCGAACAAGGTAAATTTTGGAACAGACTTTCTTACTGCAATTAAGAACCGCTATGTGTTAGAAGATGGACCAGAGGAAGATAGAAAAGAGCAAATTGTTACAATTGGAAATAAACCTGTGGAGACT
ATCGGTTTTGACTCTATTATGAAACAGCAAAGTCAGCTGAGCAAGTTGCAAGAAGTTTCTCTGAGGAACTGTGCAGTAAGTTGTGCTGGTGAAAAAGGAGGAGTTGCTGAAGCATGTCCTAATATCAG
AAAGGTAGATTTGTCAAAAAACCTGTTGTCATCATGGGATGAAGTGATACACATTGCTGATCAGCTCAGACACCTGGAAGTCCTTAATGTCAGTGAAAATAAACTAAAATTTCCCTCCGGTTCAGTAT
TAACTGGAACGCTTTCTGTACTGAAGGTTTTAGTCCTCAATCAAACAGGAATAACGTGGGCTGAGGCTCATGCGCAGTGTGGTGGCAGCAGGCACGGTCTCGACATGCAGAAAGACGCCAGCAAGTTC
GTGGATCTGTGCGTGCTGCAGAAATGCTCCACCAGCAACTGCATCATCAGTGCCAAGGACCACACATCCATGCGGATGAACGTGGCCAAGGTGCTGCGGTGTGTCGCGGGGTGCCCAGGCCTGGAGGA
ACTCTACCTTGAGTCTAACAACATTTTCATTTCCGAAAGGCCAACAGATGTTCTCCAGACAGTCAAGTTATTAGATCTTTCCTCTAATCAATTAATTGATGAAAATCAGCTGTATCTGATAGCCCACC
TGCCCAGGTTAGAACAATTAATCCTCTCTGACACTGGAATTTCTTCTCTACATTTTCCGGATGCTGGAATTGGGTGCAAAACGTCCATGTTCCCATCCTTGAAGTACCTGGTAGTAAACGACAATCAG
ATATCACAATGGTCGTTTTTCAATGAGCTAGAGAAGTTACCAAGTCTACGGGCTTTGTCCTGCCTAAGAAACCCCCTGACCAAAGAGGACAAAGAAGCAGAGACGGCGCGACTACTCATTATCGCCAG
CATTGGCCAGCTGAAGACGCTGAACAAATGTGAGATTCTCCCCGAGGAGAGGCGGAGAGCTGAGCTTGACTACCGAAAAGCTTTTGGAAATGAGTGGAAACAGGCTGGTGGACATAAGGATCCGGAAA
AAAACAGACTCAGCGAAGAATTCCTCACAGCCCATCCCAGATACCAGTTCCTCTGCCTGAAATATGGTGCACCTGAAGATTGGGAACTCAAAACACAGCAACCACTTATGCTGAAAAACCAGCTACTA
ACACTGAAGATAAAATACCCTCATCAACTTGATCAGAAAGTCCTGGAGAAACAACTGCCGGGCTCCATGACAATTCAAAAGGTGAAGGGATTGCTGTCACGTCTTCTCAAAGTTCCTGTGTCAGACCT
TCTGTTGTCCTATGAAAGTCCCAAAAAGCCGGGCAGAGAAATCGAGCTGGAAAATGACCTAAAGTCATTACAGTTTTATTCTGTGGAAAATGGAGATTGTCTATTAGTGCGATGGTGACAACCAACTA
ATAAAATTTAAAGACCACACTGCTTATCGTGTCTGGGGTTCACCGGAAATAAATGATTCACTGGAACAATTCTACTGTCAAAACAAAGGGGGTTTACAACTTGTCCTAAGTATAACAAGGGATGTATT
TTTTGTTGGGAAGTGACCATTTCTAGGCTTATACATAATAGCAATAATAAAGGCTTTGAACCTACTAATGATTTTCTGATCTTATTTCATATTTATTTTTACAGCTCATCACTGCATTTCATGATAAG
ATTTAAATATTAAATAGAAAGAAACTAGCTAGCCTAATAAAATCTGAACACAGTTAATATCTGTCATAAGACTAGTTTTAATGGAATTCTCTATTGAAACTACTATTTTAAAGGGTTACTAGAAATGA
TTTGGTTGGTCATTTTGGGAAATGTCCCTTAAACTTGGGGAGACATCCTCTACTATGTATAACAATATGCTATTATCTGTCTTCTCAGTTGCACTATTTCTAAGAGTACTTAAATTAATCACATGCTT
TTCCCTACAATTATACCTAAGCTGAGTATATCTTCTTCTGTGATAACCAGCTTTGATTGAAATGTACTCATATTAGGTAAACATTAGGCAATGATAGGAGGAAAGCAAAACTAATTCTTTCAAAATGT
CAACAAAATTTAGAAATATCCTTCCCGATGGCACTAAAACCCTGAGAGGTATTTGCTTTTATTCATACTCACACAACTTTAGCATTTAAAAACTATGAGTACTAAACTGTGACCTTCAGGATTTATGT
TAGATGGCAGAAAGAAAATTTGGGTATTAGTCTACCATATAAATGAACTTCTTTAAAACCAAGGTTCAGAACTGAGAATCATATTGGTTCCTCTTCAAGTTAGTTCAAGTTGCCCACTTCAGAGATCC
ACAAAATCTGACATTATTTCCAGAAACCCCAAACTTTGGTATAAGTGACCACTGCTCAAATATGTGATCACATGATCACACAGCATTCCTGTGAGTTCCTTTTTGTCTGATAATTATCCTAATTAGCT
CTACAGAGCTATCCTGCAATCCAGGTTGAAATTCAAACTCTCAGTTACTACTACAGATTTCTGAACTAGGCCAAGTTTTAACCAAAAACTATAGGTAATGGTGAATTACTAATTAGCCACAATGCATC
AGGATTTAGAAATATTTTTTCTTTTATAAAATAACTTGGTATTTTTCTGATAATCTTCCAATAGATAAATAAAAACTTTTCTTATGCTACAGTACAAGTTGATTTTTAAGGAAATTTGTGCAAACATT
AAGAAACACCGCATTGGTTCTGGGTGAAAGTGCCAGTCTGGAACTCTCTTGAAAGACCATACAGTCTACTGCTAAACCCTGGGACTCCTCAGACTTGCACTCAGATTATCGTTTGCCTGCCCTGATTT
TAGACTCTGCTAATTCAAGTCCCTGTTATCTTGCTTGACATCGACAAGGATCACCGCACCGTTCCTTCAGTTTCCACAGTTCCGTCAGTTCCCACGGAGAATACTGAGGAGAAGACAGCATTCCTGTC
TCACAGGTCTTCTCACACAGCCACAGACTGTCCTGTTGAGAAACAACCAAAGCCGATCTGAGAGTGGTGAAACTGTTTTAAGAGCATCAGAAAGTATGCACGTAGACAGCTTTTATGTATTCTAATGA
TGCTGAAATTATTTCAAGGATAACTCCGTGTGTGGAACAACTGGTGAGGTTTGGGGGTGGCACCTCCTGATTTGGGAAAGCACCAGGTCCCACAGTCCTGTGGCTGTGGAATACAGAAACAAGGCGGT
GTGTGGATGAAGAGTTAGTCAACAAATGCCATTCCGTAATGAACGATTTTAGAAACCACAAGTGAGTTTCATGTTTGCTAGTAAAGGTGTGTCTATGGCAGTATTAGTAACAGCTATTATTCTGATGG
AATGCTTACAATATTGCAGGGACTGTACCAAGTGCTTTGTAAATATCTCACTTAAATCTCACAGTAATGCTGTGAGGTAGGAACTATTTCCCTCTTAACAATTGAGGAACAAACGAAGAGTTAAAAAA
CTTGTTCCAGGTCACAGGGCTGGTAAATGAAGAGGAGGGATTAAAGACTCCCAAGCTCAAGTTCTTAACCACTAGACTATTTCCTAGCTACGTGAATTGGTTTCTATTTCCAGCAATGTAGCAGAACA
CAGAGAGAAACTCATTCAATGTTTTGACAACACAAAAATGTTGGATAAAATTAAAAACCTTTATAAAGCATGGCTCAACTCCGTGATCAAAGAAGAAACAGGGTAGGAGAAAGCACTGAGTCAGCCTG
TGCCTTGAAGGCAGCTGCTGATCCTTGGGTTTGGAAGGCCAAGCCCAGGGTCAGGAGACTAATGGGAGACTGACACAGAGCTAGGATCTCTGAGGGGCCACAGCCTCAGGGGTGATAAAACAAAACAC
ACTCAGCTTGTCTGTCTCAGTCTTGCCCCTCAGTGGGATGGAAAGGAGTCTCTCTCCCCTCAGTGCCTACCCACAGCTTGCACTTAGGTAGGTCTGGGGCTGGTAGTCAGTCTGTGTAAGCCCAACAG
TTCCAAGCCAAAAATCTGAAGTATTCATAGATGGTAGTATTCCTAGATGCATGGCAGAAAAAAATGTAAATATGTAAATCCTCTCTGTAGGAATGCATTTTAAATAGAGGACTCAGTTTCCAAAGACA
TGAGATGGTCACAAAAAAAAAAAAAAAAAAAAGACCGCATCAGAAAACAAGCGCCATGAACAACAGTTGTAGAAACAACAAACTGCAAAATCAGACCCAGCAAAGACTACAGATCCCAGAATTACCAG
ATACAAAAAAGAATTATATTCAAAGATGAGACAAAGTACAGCAAAGGAATCAGACTATCAAAGTGGACCATGTAGATGTGGGTTGATTTCTTGTCCTGGACTGAGAGCTGCTCTGGGACCCCAGCTCT
ATGCAGGGCTTCTAACTGACAGACACTGCATGTGCCTTCTGTCCCCTGCACCTTCGATGGCCAAAGTGGAAGCTGCAAGAATCCAGAACAGAAATCTCTGAAGCTAAAGCCAGCTTTGTGCTTGATTT
CTTCCCAGGGCTCTAGTTTCCATTTTGGTCTCTGCAGATTCATTTTTTTTTCTGGTTCAGCAATACTGTGTTTTAAATGATGTCTTATATTTCATGCAGTGTCTTATTTTTATCGGTCAGAAGGGTTG
AAGGATCCTTAGACTGCCACACTCAATCAGTGGATTCTGTCGTTCAGTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCTTGGCTCACTGCAAGCTCTGC
CCCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACCACAGGCGCCCGCCACTATGCCTGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGA
TGGTCTCCATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTTCTGTTGTTAAGTTTTAAAGCTGCAAATAATTTCTGATCAAATCTATGGAAACTGAGTTTTTTTGTAGGCAGGGGAACGTTGATTT
ATAACCTTTTGCTTTAAACTCAGAAAAATACTGTATGAGAAATAACCTAGTGGATTATTGTGAATTAAAGCAACAGCATAACTATTA

hide sequence

RefSeq Acc Id:

NM_001287802 ⟹ NP_001274731

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	235,367,427 - 235,452,443 (+)	NCBI
HuRef	1	205,979,670 - 206,063,930 (+)	NCBI
CHM1_1	1	236,802,991 - 236,884,880 (+)	NCBI
T2T-CHM13v2.0	1	234,759,155 - 234,848,336 (+)	NCBI

Sequence:

show sequence

GCCAGAGCCTCAAGCTTCGCTGCTGGGCAGTTGGCTGGAGGGGCTGCTGCTGGGAACACCTGGAGTCTCCGCGGGCAGATCTCATATTTTGGATTCTGGATATATTATAATGAGTGACACTTTGACAG
CGGATGTCATTGGTCGAAGAGTTGAAGTTAATGGAGAACATGCAACAGTACGTTTTGCTGGTGTTGTCCCTCCCGTGGCAGGCACCCGACAGGAGGATCCTTTATTCGTCCGAACAAGGTAAATTTTG
GAACAGACTTTCTTACTGCAATTAAGAACCGCTATGTGTTAGAAGATGGACCAGAGGAAGATAGAAAAGAGCAAATTGTTACAATTGGAAATAAACCTGTGGAGACTATCGGTTTTGACTCTATTATG
AAACAGCAAAGGGCCAGTGGATAGCATACGTGCTTATGTATCCATGTGAACTCTGTTTTTCATGCAGTCAGCTGAGCAAGTTGCAAGAAGTTTCTCTGAGGAACTGTGCAGTAAGTTGTGCTGGTGAA
AAAGGAGGAGTTGCTGAAGCATGTCCTAATATCAGAAAGGTAGATTTGTCAAAAAACCTGTTGTCATCATGGGATGAAGTGATACACATTGCTGATCAGCTCAGACACCTGGAAGTCCTTAATGTCAG
TGAAAATAAACTAAAATTTCCCTCCGGTTCAGTATTAACTGGAACGCTTTCTGTACTGAAGGTTTTAGTCCTCAATCAAACAGGAATAACGTGGGCTGAGGTGCTGCGGTGTGTCGCGGGGTGCCCAG
GCCTGGAGGAACTCTACCTTGAGTCTAACAACATTTTCATTTCCGAAAGGCCAACAGATGTTCTCCAGACAGTCAAGTTATTAGATCTTTCCTCTAATCAATTAATTGATGAAAATCAGCTGTATCTG
ATAGCCCACCTGCCCAGGTTAGAACAATTAATCCTCTCTGACACTGGAATTTCTTCTCTACATTTTCCGGATGCTGGAATTGGGTGCAAAACGTCCATGTTCCCATCCTTGAAGTACCTGGTAGTAAA
CGACAATCAGATATCACAATGGTCGTTTTTCAATGAGCTAGAGAAGTTACCAAGTCTACGGGCTTTGTCCTGCCTAAGAAACCCCCTGACCAAAGAGGACAAAGAAGCAGAGACGGCGCGACTACTCA
TTATCGCCAGCATTGGCCAGCTGAAGACGCTGAACAAATGTGAGATTCTCCCCGAGGAGAGGCGGAGAGCTGAGCTTGACTACCGAAAAGCTTTTGGAAATGAGTGGAAACAGGCTGGTGGACATAAG
GATCCGGAAAAAAACAGACTCAGCGAAGAATTCCTCACAGCCCATCCCAGATACCAGTTCCTCTGCCTGAAATATGGTGCACCTGAAGATTGGGAACTCAAAACACAGCAACCACTTATGCTGAAAAA
CCAGCTACTAACACTGAAGATAAAATACCCTCATCAACTTGATCAGAAAGTCCTGGAGAAACAACTGCCGGGCTCCATGACAATTCAAAAGGTGAAGGGATTGCTGTCACGTCTTCTCAAAGTTCCTG
TGTCAGACCTTCTGTTGTCCTATGAAAGTCCCAAAAAGCCGGGCAGAGAAATCGAGCTGGAAAATGACCTAAAGTCATTACAGTTTTATTCTGTGGAAAATGGAGATTGTCTATTAGTGCGATGGTGA
CAACCAACTAATAAAATTTAAAGACCACACTGCTTATCGTGTCTGGGGTTCACCGGAAATAAATGATTCACTGGAACAATTCTACTGTCAAAACAAAGGGGGTTTACAACTTGTCCTAAGTATAACAA
GGGATGTATTTTTTGTTGGGAAGTGACCATTTCTAGGCTTATACATAATAGCAATAATAAAGGCTTTGAACCTACTAATGATTTTCTGATCTTATTTCATATTTATTTTTACAGCTCATCACTGCATT
TCATGATAAGATTTAAATATTAAATAGAAAGAAACTAGCTAGCCTAATAAAATCTGAACACAGTTAATATCTGTCATAAGACTAGTTTTAATGGAATTCTCTATTGAAACTACTATTTTAAAGGGTTA
CTAGAAATGATTTGGTTGGTCATTTTGGGAAATGTCCCTTAAACTTGGGGAGACATCCTCTACTATGTATAACAATATGCTATTATCTGTCTTCTCAGTTGCACTATTTCTAAGAGTACTTAAATTAA
TCACATGCTTTTCCCTACAATTATACCTAAGCTGAGTATATCTTCTTCTGTGATAACCAGCTTTGATTGAAATGTACTCATATTAGGTAAACATTAGGCAATGATAGGAGGAAAGCAAAACTAATTCT
TTCAAAATGTCAACAAAATTTAGAAATATCCTTCCCGATGGCACTAAAACCCTGAGAGGTATTTGCTTTTATTCATACTCACACAACTTTAGCATTTAAAAACTATGAGTACTAAACTGTGACCTTCA
GGATTTATGTTAGATGGCAGAAAGAAAATTTGGGTATTAGTCTACCATATAAATGAACTTCTTTAAAACCAAGGTTCAGAACTGAGAATCATATTGGTTCCTCTTCAAGTTAGTTCAAGTTGCCCACT
TCAGAGATCCACAAAATCTGACATTATTTCCAGAAACCCCAAACTTTGGTATAAGTGACCACTGCTCAAATATGTGATCACATGATCACACAGCATTCCTGTGAGTTCCTTTTTGTCTGATAATTATC
CTAATTAGCTCTACAGAGCTATCCTGCAATCCAGGTTGAAATTCAAACTCTCAGTTACTACTACAGATTTCTGAACTAGGCCAAGTTTTAACCAAAAACTATAGGTAATGGTGAATTACTAATTAGCC
ACAATGCATCAGGATTTAGAAATATTTTTTCTTTTATAAAATAACTTGGTATTTTTCTGATAATCTTCCAATAGATAAATAAAAACTTTTCTTATGCTACAGTACAAGTTGATTTTTAAGGAAATTTG
TGCAAACATTAAGAAACACCGCATTGGTTCTGGGTGAAAGTGCCAGTCTGGAACTCTCTTGAAAGACCATACAGTCTACTGCTAAACCCTGGGACTCCTCAGACTTGCACTCAGATTATCGTTTGCCT
GCCCTGATTTTAGACTCTGCTAATTCAAGTCCCTGTTATCTTGCTTGACATCGACAAGGATCACCGCACCGTTCCTTCAGTTTCCACAGTTCCGTCAGTTCCCACGGAGAATACTGAGGAGAAGACAG
CATTCCTGTCTCACAGGTCTTCTCACACAGCCACAGACTGTCCTGTTGAGAAACAACCAAAGCCGATCTGAGAGTGGTGAAACTGTTTTAAGAGCATCAGAAAGTATGCACGTAGACAGCTTTTATGT
ATTCTAATGATGCTGAAATTATTTCAAGGATAACTCCGTGTGTGGAACAACTGGTGAGGTTTGGGGGTGGCACCTCCTGATTTGGGAAAGCACCAGGTCCCACAGTCCTGTGGCTGTGGAATACAGAA
ACAAGGCGGTGTGTGGATGAAGAGTTAGTCAACAAATGCCATTCCGTAATGAACGATTTTAGAAACCACAAGTGAGTTTCATGTTTGCTAGTAAAGGTGTGTCTATGGCAGTATTAGTAACAGCTATT
ATTCTGATGGAATGCTTACAATATTGCAGGGACTGTACCAAGTGCTTTGTAAATATCTCACTTAAATCTCACAGTAATGCTGTGAGGTAGGAACTATTTCCCTCTTAACAATTGAGGAACAAACGAAG
AGTTAAAAAACTTGTTCCAGGTCACAGGGCTGGTAAATGAAGAGGAGGGATTAAAGACTCCCAAGCTCAAGTTCTTAACCACTAGACTATTTCCTAGCTACGTGAATTGGTTTCTATTTCCAGCAATG
TAGCAGAACACAGAGAGAAACTCATTCAATGTTTTGACAACACAAAAATGTTGGATAAAATTAAAAACCTTTATAAAGCATGGCTCAACTCCGTGATCAAAGAAGAAACAGGGTAGGAGAAAGCACTG
AGTCAGCCTGTGCCTTGAAGGCAGCTGCTGATCCTTGGGTTTGGAAGGCCAAGCCCAGGGTCAGGAGACTAATGGGAGACTGACACAGAGCTAGGATCTCTGAGGGGCCACAGCCTCAGGGGTGATAA
AACAAAACACACTCAGCTTGTCTGTCTCAGTCTTGCCCCTCAGTGGGATGGAAAGGAGTCTCTCTCCCCTCAGTGCCTACCCACAGCTTGCACTTAGGTAGGTCTGGGGCTGGTAGTCAGTCTGTGTA
AGCCCAACAGTTCCAAGCCAAAAATCTGAAGTATTCATAGATGGTAGTATTCCTAGATGCATGGCAGAAAAAAATGTAAATATGTAAATCCTCTCTGTAGGAATGCATTTTAAATAGAGGACTCAGTT
TCCAAAGACATGAGATGGTCACAAAAAAAAAAAAAAAAAAAAGACCGCATCAGAAAACAAGCGCCATGAACAACAGTTGTAGAAACAACAAACTGCAAAATCAGACCCAGCAAAGACTACAGATCCCA
GAATTACCAGATACAAAAAAGAATTATATTCAAAGATGAGACAAAGTACAGCAAAGGAATCAGACTATCAAAGTGGACCATGTAGATGTGGGTTGATTTCTTGTCCTGGACTGAGAGCTGCTCTGGGA
CCCCAGCTCTATGCAGGGCTTCTAACTGACAGACACTGCATGTGCCTTCTGTCCCCTGCACCTTCGATGGCCAAAGTGGAAGCTGCAAGAATCCAGAACAGAAATCTCTGAAGCTAAAGCCAGCTTTG
TGCTTGATTTCTTCCCAGGGCTCTAGTTTCCATTTTGGTCTCTGCAGATTCATTTTTTTTTCTGGTTCAGCAATACTGTGTTTTAAATGATGTCTTATATTTCATGCAGTGTCTTATTTTTATCGGTC
AGAAGGGTTGAAGGATCCTTAGACTGCCACACTCAATCAGTGGATTCTGTCGTTCAGTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTACAGTGGTGTGATCTTGGCTCACTG
CAAGCTCTGCCCCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACCACAGGCGCCCGCCACTATGCCTGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCGTG
TTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTTCTGTTGTTAAGTTTTAAAGCTGCAAATAATTTCTGATCAAATCTATGGAAACTGAGTTTTTTTGTAGGCAGGGGA
ACGTTGATTTATAACCTTTTGCTTTAAACTCAGAAAAATACTGTATGAGAAATAACCTAGTGGATTATTGTGAATTAAAGCAACAGCATAACTATTA

hide sequence

RefSeq Acc Id:

NM_003193 ⟹ NP_003184

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	235,367,427 - 235,452,443 (+)	NCBI
GRCh37	1	235,530,728 - 235,612,280 (+)	ENTREZGENE
GRCh37	1	235,530,728 - 235,612,280 (+)	NCBI
Build 36	1	233,597,351 - 233,678,903 (+)	NCBI Archive
HuRef	1	205,979,670 - 206,063,930 (+)	NCBI
CHM1_1	1	236,802,991 - 236,884,880 (+)	NCBI
T2T-CHM13v2.0	1	234,759,155 - 234,848,336 (+)	NCBI

Sequence:

show sequence

GCCAGAGCCTCAAGCTTCGCTGCTGGGCAGTTGGCTGGAGGGGCTGCTGCTGGGAACACCTGGAGTCTCCGCGGGCAGATCTCATATTTTGGATTCTGGATATATTATAATGAGTGACACTTTGACAG
CGGATGTCATTGGTCGAAGAGTTGAAGTTAATGGAGAACATGCAACAGTACGTTTTGCTGGTGTTGTCCCTCCCGTGGCAGGACCCTGGTTAGGAGTAGAATGGGACAATCCCGAGAGAGGAAAGCAT
GATGGGAGCCACGAAGGGACTGTGTATTTTAAATGCAGGCACCCGACAGGAGGATCCTTTATTCGTCCGAACAAGGTAAATTTTGGAACAGACTTTCTTACTGCAATTAAGAACCGCTATGTGTTAGA
AGATGGACCAGAGGAAGATAGAAAAGAGCAAATTGTTACAATTGGAAATAAACCTGTGGAGACTATCGGTTTTGACTCTATTATGAAACAGCAAAGTCAGCTGAGCAAGTTGCAAGAAGTTTCTCTGA
GGAACTGTGCAGTAAGTTGTGCTGGTGAAAAAGGAGGAGTTGCTGAAGCATGTCCTAATATCAGAAAGGTAGATTTGTCAAAAAACCTGTTGTCATCATGGGATGAAGTGATACACATTGCTGATCAG
CTCAGACACCTGGAAGTCCTTAATGTCAGTGAAAATAAACTAAAATTTCCCTCCGGTTCAGTATTAACTGGAACGCTTTCTGTACTGAAGGTTTTAGTCCTCAATCAAACAGGAATAACGTGGGCTGA
GGTGCTGCGGTGTGTCGCGGGGTGCCCAGGCCTGGAGGAACTCTACCTTGAGTCTAACAACATTTTCATTTCCGAAAGGCCAACAGATGTTCTCCAGACAGTCAAGTTATTAGATCTTTCCTCTAATC
AATTAATTGATGAAAATCAGCTGTATCTGATAGCCCACCTGCCCAGGTTAGAACAATTAATCCTCTCTGACACTGGAATTTCTTCTCTACATTTTCCGGATGCTGGAATTGGGTGCAAAACGTCCATG
TTCCCATCCTTGAAGTACCTGGTAGTAAACGACAATCAGATATCACAATGGTCGTTTTTCAATGAGCTAGAGAAGTTACCAAGTCTACGGGCTTTGTCCTGCCTAAGAAACCCCCTGACCAAAGAGGA
CAAAGAAGCAGAGACGGCGCGACTACTCATTATCGCCAGCATTGGCCAGCTGAAGACGCTGAACAAATGTGAGATTCTCCCCGAGGAGAGGCGGAGAGCTGAGCTTGACTACCGAAAAGCTTTTGGAA
ATGAGTGGAAACAGGCTGGTGGACATAAGGATCCGGAAAAAAACAGACTCAGCGAAGAATTCCTCACAGCCCATCCCAGATACCAGTTCCTCTGCCTGAAATATGGTGCACCTGAAGATTGGGAACTC
AAAACACAGCAACCACTTATGCTGAAAAACCAGCTACTAACACTGAAGATAAAATACCCTCATCAACTTGATCAGAAAGTCCTGGAGAAACAACTGCCGGGCTCCATGACAATTCAAAAGGTGAAGGG
ATTGCTGTCACGTCTTCTCAAAGTTCCTGTGTCAGACCTTCTGTTGTCCTATGAAAGTCCCAAAAAGCCGGGCAGAGAAATCGAGCTGGAAAATGACCTAAAGTCATTACAGTTTTATTCTGTGGAAA
ATGGAGATTGTCTATTAGTGCGATGGTGACAACCAACTAATAAAATTTAAAGACCACACTGCTTATCGTGTCTGGGGTTCACCGGAAATAAATGATTCACTGGAACAATTCTACTGTCAAAACAAAGG
GGGTTTACAACTTGTCCTAAGTATAACAAGGGATGTATTTTTTGTTGGGAAGTGACCATTTCTAGGCTTATACATAATAGCAATAATAAAGGCTTTGAACCTACTAATGATTTTCTGATCTTATTTCA
TATTTATTTTTACAGCTCATCACTGCATTTCATGATAAGATTTAAATATTAAATAGAAAGAAACTAGCTAGCCTAATAAAATCTGAACACAGTTAATATCTGTCATAAGACTAGTTTTAATGGAATTC
TCTATTGAAACTACTATTTTAAAGGGTTACTAGAAATGATTTGGTTGGTCATTTTGGGAAATGTCCCTTAAACTTGGGGAGACATCCTCTACTATGTATAACAATATGCTATTATCTGTCTTCTCAGT
TGCACTATTTCTAAGAGTACTTAAATTAATCACATGCTTTTCCCTACAATTATACCTAAGCTGAGTATATCTTCTTCTGTGATAACCAGCTTTGATTGAAATGTACTCATATTAGGTAAACATTAGGC
AATGATAGGAGGAAAGCAAAACTAATTCTTTCAAAATGTCAACAAAATTTAGAAATATCCTTCCCGATGGCACTAAAACCCTGAGAGGTATTTGCTTTTATTCATACTCACACAACTTTAGCATTTAA
AAACTATGAGTACTAAACTGTGACCTTCAGGATTTATGTTAGATGGCAGAAAGAAAATTTGGGTATTAGTCTACCATATAAATGAACTTCTTTAAAACCAAGGTTCAGAACTGAGAATCATATTGGTT
CCTCTTCAAGTTAGTTCAAGTTGCCCACTTCAGAGATCCACAAAATCTGACATTATTTCCAGAAACCCCAAACTTTGGTATAAGTGACCACTGCTCAAATATGTGATCACATGATCACACAGCATTCC
TGTGAGTTCCTTTTTGTCTGATAATTATCCTAATTAGCTCTACAGAGCTATCCTGCAATCCAGGTTGAAATTCAAACTCTCAGTTACTACTACAGATTTCTGAACTAGGCCAAGTTTTAACCAAAAAC
TATAGGTAATGGTGAATTACTAATTAGCCACAATGCATCAGGATTTAGAAATATTTTTTCTTTTATAAAATAACTTGGTATTTTTCTGATAATCTTCCAATAGATAAATAAAAACTTTTCTTATGCTA
CAGTACAAGTTGATTTTTAAGGAAATTTGTGCAAACATTAAGAAACACCGCATTGGTTCTGGGTGAAAGTGCCAGTCTGGAACTCTCTTGAAAGACCATACAGTCTACTGCTAAACCCTGGGACTCCT
CAGACTTGCACTCAGATTATCGTTTGCCTGCCCTGATTTTAGACTCTGCTAATTCAAGTCCCTGTTATCTTGCTTGACATCGACAAGGATCACCGCACCGTTCCTTCAGTTTCCACAGTTCCGTCAGT
TCCCACGGAGAATACTGAGGAGAAGACAGCATTCCTGTCTCACAGGTCTTCTCACACAGCCACAGACTGTCCTGTTGAGAAACAACCAAAGCCGATCTGAGAGTGGTGAAACTGTTTTAAGAGCATCA
GAAAGTATGCACGTAGACAGCTTTTATGTATTCTAATGATGCTGAAATTATTTCAAGGATAACTCCGTGTGTGGAACAACTGGTGAGGTTTGGGGGTGGCACCTCCTGATTTGGGAAAGCACCAGGTC
CCACAGTCCTGTGGCTGTGGAATACAGAAACAAGGCGGTGTGTGGATGAAGAGTTAGTCAACAAATGCCATTCCGTAATGAACGATTTTAGAAACCACAAGTGAGTTTCATGTTTGCTAGTAAAGGTG
TGTCTATGGCAGTATTAGTAACAGCTATTATTCTGATGGAATGCTTACAATATTGCAGGGACTGTACCAAGTGCTTTGTAAATATCTCACTTAAATCTCACAGTAATGCTGTGAGGTAGGAACTATTT
CCCTCTTAACAATTGAGGAACAAACGAAGAGTTAAAAAACTTGTTCCAGGTCACAGGGCTGGTAAATGAAGAGGAGGGATTAAAGACTCCCAAGCTCAAGTTCTTAACCACTAGACTATTTCCTAGCT
ACGTGAATTGGTTTCTATTTCCAGCAATGTAGCAGAACACAGAGAGAAACTCATTCAATGTTTTGACAACACAAAAATGTTGGATAAAATTAAAAACCTTTATAAAGCATGGCTCAACTCCGTGATCA
AAGAAGAAACAGGGTAGGAGAAAGCACTGAGTCAGCCTGTGCCTTGAAGGCAGCTGCTGATCCTTGGGTTTGGAAGGCCAAGCCCAGGGTCAGGAGACTAATGGGAGACTGACACAGAGCTAGGATCT
CTGAGGGGCCACAGCCTCAGGGGTGATAAAACAAAACACACTCAGCTTGTCTGTCTCAGTCTTGCCCCTCAGTGGGATGGAAAGGAGTCTCTCTCCCCTCAGTGCCTACCCACAGCTTGCACTTAGGT
AGGTCTGGGGCTGGTAGTCAGTCTGTGTAAGCCCAACAGTTCCAAGCCAAAAATCTGAAGTATTCATAGATGGTAGTATTCCTAGATGCATGGCAGAAAAAAATGTAAATATGTAAATCCTCTCTGTA
GGAATGCATTTTAAATAGAGGACTCAGTTTCCAAAGACATGAGATGGTCACAAAAAAAAAAAAAAAAAAAAGACCGCATCAGAAAACAAGCGCCATGAACAACAGTTGTAGAAACAACAAACTGCAAA
ATCAGACCCAGCAAAGACTACAGATCCCAGAATTACCAGATACAAAAAAGAATTATATTCAAAGATGAGACAAAGTACAGCAAAGGAATCAGACTATCAAAGTGGACCATGTAGATGTGGGTTGATTT
CTTGTCCTGGACTGAGAGCTGCTCTGGGACCCCAGCTCTATGCAGGGCTTCTAACTGACAGACACTGCATGTGCCTTCTGTCCCCTGCACCTTCGATGGCCAAAGTGGAAGCTGCAAGAATCCAGAAC
AGAAATCTCTGAAGCTAAAGCCAGCTTTGTGCTTGATTTCTTCCCAGGGCTCTAGTTTCCATTTTGGTCTCTGCAGATTCATTTTTTTTTCTGGTTCAGCAATACTGTGTTTTAAATGATGTCTTATA
TTTCATGCAGTGTCTTATTTTTATCGGTCAGAAGGGTTGAAGGATCCTTAGACTGCCACACTCAATCAGTGGATTCTGTCGTTCAGTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTG
GAGTACAGTGGTGTGATCTTGGCTCACTGCAAGCTCTGCCCCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTTCTGAGTAGCTGGGACCACAGGCGCCCGCCACTATGCCTGGCTAATTTTTTTTGT
ATTTTTAGTAGAGATGGGGTTTCACCGTGTTAGCCAGGATGGTCTCCATCTCCTGACCTCATGATCTGCCCGCCTCGGCCTTCTGTTGTTAAGTTTTAAAGCTGCAAATAATTTCTGATCAAATCTAT
GGAAACTGAGTTTTTTTGTAGGCAGGGGAACGTTGATTTATAACCTTTTGCTTTAAACTCAGAAAAATACTGTATGAGAAATAACCTAGTGGATTATTGTGAATTAAAGCAACAGCATAACTATTA

hide sequence


Protein RefSeqs	NP_001072983	(Get FASTA)	NCBI Sequence Viewer
	NP_001274730	(Get FASTA)	NCBI Sequence Viewer
	NP_001274731	(Get FASTA)	NCBI Sequence Viewer
	NP_003184	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB17538	(Get FASTA)	NCBI Sequence Viewer
	AAH08654	(Get FASTA)	NCBI Sequence Viewer
	AAP35749	(Get FASTA)	NCBI Sequence Viewer
	BAF84976	(Get FASTA)	NCBI Sequence Viewer
	BAH12277	(Get FASTA)	NCBI Sequence Viewer
	BAH12714	(Get FASTA)	NCBI Sequence Viewer
	EAW70021	(Get FASTA)	NCBI Sequence Viewer
	EAW70022	(Get FASTA)	NCBI Sequence Viewer
	EAW70023	(Get FASTA)	NCBI Sequence Viewer
	EAW70024	(Get FASTA)	NCBI Sequence Viewer
	EAW70025	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000384571
	ENSP00000384571.1
	ENSP00000439170
	ENSP00000439170.1
	ENSP00000494796
	ENSP00000494796.1
	ENSP00000498645
GenBank Protein	Q15813	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001072983 ⟸ NM_001079515
- Peptide Label:	isoform a
- UniProtKB:	A8K8C2 (UniProtKB/Swiss-Prot), B7Z3P1 (UniProtKB/Swiss-Prot), Q15813 (UniProtKB/Swiss-Prot), A0A2R8Y5Q8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSDTLTADVIGRRVEVNGEHATVRFAGVVPPVAGPWLGVEWDNPERGKHDGSHEGTVYFKCRHPTGGSFIRPNKVNFGTDFLTAIKNRYVLEDGPEEDRKEQIVTIGNKPVETIGFDSIMKQQSQLSK LQEVSLRNCAVSCAGEKGGVAEACPNIRKVDLSKNLLSSWDEVIHIADQLRHLEVLNVSENKLKFPSGSVLTGTLSVLKVLVLNQTGITWAEVLRCVAGCPGLEELYLESNNIFISERPTDVLQTVKL LDLSSNQLIDENQLYLIAHLPRLEQLILSDTGISSLHFPDAGIGCKTSMFPSLKYLVVNDNQISQWSFFNELEKLPSLRALSCLRNPLTKEDKEAETARLLIIASIGQLKTLNKCEILPEERRRAELD YRKAFGNEWKQAGGHKDPEKNRLSEEFLTAHPRYQFLCLKYGAPEDWELKTQQPLMLKNQLLTLKIKYPHQLDQKVLEKQLPGSMTIQKVKGLLSRLLKVPVSDLLLSYESPKKPGREIELENDLKSL QFYSVENGDCLLVRW hide sequence

RefSeq Acc Id:	NP_003184 ⟸ NM_003193
- Peptide Label:	isoform a
- UniProtKB:	A8K8C2 (UniProtKB/Swiss-Prot), B7Z3P1 (UniProtKB/Swiss-Prot), Q15813 (UniProtKB/Swiss-Prot), A0A2R8Y5Q8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSDTLTADVIGRRVEVNGEHATVRFAGVVPPVAGPWLGVEWDNPERGKHDGSHEGTVYFKCRHP TGGSFIRPNKVNFGTDFLTAIKNRYVLEDGPEEDRKEQIVTIGNKPVETIGFDSIMKQQSQLSKLQEVSLRNCAVSCAGEKGGVAEACPNIRKVDLSKNLLSSWDEVIHIADQLRHLEVLNVSENKLK FPSGSVLTGTLSVLKVLVLNQTGITWAEVLRCVAGCPGLEELYLESNNIFISERPTDVLQTVKLLDLSSNQLIDENQLYLIAHLPRLEQLILSDTGISSLHFPDAGIGCKTSMFPSLKYLVVNDNQIS QWSFFNELEKLPSLRALSCLRNPLTKEDKEAETARLLIIASIGQLKTLNKCEILPEERRRAELDYRKAFGNEWKQAGGHKDPEKNRLSEEFLTAHPRYQFLCLKYGAPEDWELKTQQPLMLKNQLLTL KIKYPHQLDQKVLEKQLPGSMTIQKVKGLLSRLLKVPVSDLLLSYESPKKPGREIELENDLKSLQFYSVENGDCLLVRW hide sequence

RefSeq Acc Id:	NP_001274730 ⟸ NM_001287801
- Peptide Label:	isoform b
- UniProtKB:	A0A2R8Y5Q8 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSDTLTADVIGRRVEVNGEHATVRFAGVVPPVAGPWLGVEWDNPERGKHDGSHEGTVYFKCRHPTGGSFIRPNKVNFGTDFLTAIKNRYVLEDGPEEDRKEQIVTIGNKPVETIGFDSIMKQQSQLSK LQEVSLRNCAVSCAGEKGGVAEACPNIRKVDLSKNLLSSWDEVIHIADQLRHLEVLNVSENKLKFPSGSVLTGTLSVLKVLVLNQTGITWAEAHAQCGGSRHGLDMQKDASKFVDLCVLQKCSTSNCI ISAKDHTSMRMNVAKVLRCVAGCPGLEELYLESNNIFISERPTDVLQTVKLLDLSSNQLIDENQLYLIAHLPRLEQLILSDTGISSLHFPDAGIGCKTSMFPSLKYLVVNDNQISQWSFFNELEKLPS LRALSCLRNPLTKEDKEAETARLLIIASIGQLKTLNKCEILPEERRRAELDYRKAFGNEWKQAGGHKDPEKNRLSEEFLTAHPRYQFLCLKYGAPEDWELKTQQPLMLKNQLLTLKIKYPHQLDQKVL EKQLPGSMTIQKVKGLLSRLLKVPVSDLLLSYESPKKPGREIELENDLKSLQFYSVENGDCLLVRW hide sequence

RefSeq Acc Id:	NP_001274731 ⟸ NM_001287802
- Peptide Label:	isoform c
- UniProtKB:	A0A2R8Y6Q1 (UniProtKB/TrEMBL), A0A2R8Y7E7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MYPCELCFSCSQLSKLQEVSLRNCAVSCAGEKGGVAEACPNIRKVDLSKNLLSSWDEVIHIADQLRHLEVLNVSENKLKFPSGSVLTGTLSVLKVLVLNQTGITWAEVLRCVAGCPGLEELYLESNNI FISERPTDVLQTVKLLDLSSNQLIDENQLYLIAHLPRLEQLILSDTGISSLHFPDAGIGCKTSMFPSLKYLVVNDNQISQWSFFNELEKLPSLRALSCLRNPLTKEDKEAETARLLIIASIGQLKTLN KCEILPEERRRAELDYRKAFGNEWKQAGGHKDPEKNRLSEEFLTAHPRYQFLCLKYGAPEDWELKTQQPLMLKNQLLTLKIKYPHQLDQKVLEKQLPGSMTIQKVKGLLSRLLKVPVSDLLLSYESPK KPGREIELENDLKSLQFYSVENGDCLLVRW hide sequence

Ensembl Acc Id:

ENSP00000439170 ⟸ ENST00000543662

Protein Domains

CAP-Gly LRRCT Ubiquitin-like

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q15813-F1-model_v2	AlphaFold	Q15813	1-527	view protein structure

RGD ID:

6786973

Promoter ID:

HG_KWN:7924

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

NM_001079515, OTTHUMT00000096458, OTTHUMT00000097365, UC001HXB.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	233,597,144 - 233,597,644 (+)	MPROMDB

RGD ID:

6859338

Promoter ID:

EPDNEW_H2834

Type:

initiation region

Name:

TBCE_1

Description:

tubulin folding cofactor E

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H2835 EPDNEW_H2836 EPDNEW_H2837

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	235,367,430 - 235,367,490	EPDNEW

RGD ID:

6859340

Promoter ID:

EPDNEW_H2835

Type:

single initiation site

Name:

TBCE_2

Description:

tubulin folding cofactor E

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H2834 EPDNEW_H2836 EPDNEW_H2837

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	235,433,168 - 235,433,228	EPDNEW

RGD ID:

6859342

Promoter ID:

EPDNEW_H2836

Type:

initiation region

Name:

TBCE_3

Description:

tubulin folding cofactor E

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H2834 EPDNEW_H2835 EPDNEW_H2837

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	235,438,767 - 235,438,827	EPDNEW

RGD ID:

6859344

Promoter ID:

EPDNEW_H2837

Type:

multiple initiation site

Name:

TBCE_4

Description:

tubulin folding cofactor E

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H2834 EPDNEW_H2835 EPDNEW_H2836

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	235,448,676 - 235,448,736	EPDNEW

Database	Acc Id	Source(s)
COSMIC	TBCE	COSMIC
Ensembl Genes	ENSG00000284770	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
	ENSG00000285053	Ensembl
Ensembl Transcript	ENST00000406207	ENTREZGENE
	ENST00000406207.5	UniProtKB/Swiss-Prot
	ENST00000543662	ENTREZGENE
	ENST00000543662.4	UniProtKB/Swiss-Prot
	ENST00000642610	ENTREZGENE
	ENST00000642610.2	UniProtKB/Swiss-Prot
	ENST00000651186	ENTREZGENE
Gene3D-CATH	2.30.30.190	UniProtKB/Swiss-Prot
	3.80.10.10	UniProtKB/Swiss-Prot
	Phosphatidylinositol 3-kinase Catalytic Subunit, Chain A, domain 1	UniProtKB/Swiss-Prot
GTEx	ENSG00000284770	GTEx
	ENSG00000285053	GTEx
HGNC ID	HGNC:11582	ENTREZGENE
Human Proteome Map	TBCE	Human Proteome Map
InterPro	CAP-Gly_dom_sf	UniProtKB/Swiss-Prot
	CAP-Gly_domain	UniProtKB/Swiss-Prot
	LRR_dom_sf	UniProtKB/Swiss-Prot
	Ubiquitin-like_domsf	UniProtKB/Swiss-Prot
	Ubiquitin_dom	UniProtKB/Swiss-Prot
	Ubl_TBCE	UniProtKB/Swiss-Prot
KEGG Report	hsa:6905	UniProtKB/Swiss-Prot
NCBI Gene	6905	ENTREZGENE
OMIM	604934	OMIM
PANTHER	CILIA- AND FLAGELLA-ASSOCIATED PROTEIN 410-RELATED	UniProtKB/Swiss-Prot
	LEUCINE RICH REPEAT PROTEIN	UniProtKB/Swiss-Prot
Pfam	CAP_GLY	UniProtKB/Swiss-Prot
	Ubiquitin_2	UniProtKB/Swiss-Prot
PharmGKB	PA36346	PharmGKB
PROSITE	CAP_GLY_1	UniProtKB/Swiss-Prot
	CAP_GLY_2	UniProtKB/Swiss-Prot
SMART	CAP_GLY	UniProtKB/Swiss-Prot
Superfamily-SCOP	RNI-like	UniProtKB/Swiss-Prot
	SSF54236	UniProtKB/Swiss-Prot
	SSF74924	UniProtKB/Swiss-Prot
UniProt	A0A2R8Y3S1_HUMAN	UniProtKB/TrEMBL
	A0A2R8Y4E7_HUMAN	UniProtKB/TrEMBL
	A0A2R8Y4N4_HUMAN	UniProtKB/TrEMBL
	A0A2R8Y4P2_HUMAN	UniProtKB/TrEMBL
	A0A2R8Y4V6_HUMAN	UniProtKB/TrEMBL
	A0A2R8Y551_HUMAN	UniProtKB/TrEMBL
	A0A2R8Y597_HUMAN	UniProtKB/TrEMBL
	A0A2R8Y5H6_HUMAN	UniProtKB/TrEMBL
	A0A2R8Y5Q8	ENTREZGENE, UniProtKB/TrEMBL
	A0A2R8Y6G3_HUMAN	UniProtKB/TrEMBL
	A0A2R8Y6L2_HUMAN	UniProtKB/TrEMBL
	A0A2R8Y6Q1	ENTREZGENE, UniProtKB/TrEMBL
	A0A2R8Y720_HUMAN	UniProtKB/TrEMBL
	A0A2R8Y784_HUMAN	UniProtKB/TrEMBL
	A0A2R8Y787_HUMAN	UniProtKB/TrEMBL
	A0A2R8Y7E7	ENTREZGENE, UniProtKB/TrEMBL
	A0A2R8Y7H8_HUMAN	UniProtKB/TrEMBL
	A0A2R8Y7P7_HUMAN	UniProtKB/TrEMBL
	A0A2R8Y809_HUMAN	UniProtKB/TrEMBL
	A0A2R8Y897_HUMAN	UniProtKB/TrEMBL
	A0A2R8YE82_HUMAN	UniProtKB/TrEMBL
	A0A2R8YER9_HUMAN	UniProtKB/TrEMBL
	A0A2R8YF12_HUMAN	UniProtKB/TrEMBL
	A0A2R8YFG9_HUMAN	UniProtKB/TrEMBL
	A0A2R8YFL4_HUMAN	UniProtKB/TrEMBL
	A0A2R8YFM3_HUMAN	UniProtKB/TrEMBL
	A0A2R8YH53_HUMAN	UniProtKB/TrEMBL
	A0A2R8YHI9_HUMAN	UniProtKB/TrEMBL
	A0A2U3TZJ6_HUMAN	UniProtKB/TrEMBL
	A8K8C2	ENTREZGENE
	B7Z3P1	ENTREZGENE
	Q15813	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	A8K8C2	UniProtKB/Swiss-Prot
	B7Z3P1	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-03-29	TBCE	tubulin folding cofactor E	KCS	Kenny-Caffey syndrome	Data merged from RGD:1344387	737654	PROVISIONAL
2016-03-22	TBCE	tubulin folding cofactor E	HRD	hypoparathyroidism, growth and mental retardation, and dysmorphism	Data merged from RGD:1346832	737654	PROVISIONAL

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
		Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

Send us a Message

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar