NLRC4 Chromosome 2
NLR family CARD domain containing 4
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What This Gene Does
This gene encodes a member of the caspase recruitment domain-containing NLR family. Family members play essential roles in innate immune response to a wide range of pathogenic organisms, tissue damage and other cellular stresses. Mutations in this gene result in autoinflammation with infantile enterocolitis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
Gene Info
Gene Group
"NLR family|Caspase recruitment domain containing"
Locus Type
gene with protein product
Location
2p22.3
Ensembl
ENSG00000091106
Associated Conditions (7)
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Familial cold autoinflammatory syndrome 4
Autoinflammatory syndrome
Inborn genetic diseases
NLRC4-related disorder
Atopic eczema
Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4)
Key Variants
RS113631419
Conflicting classifications of pathogenicity
Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4, Autoinflammatory syndrome
Health Risk
RS117094017
Conflicting classifications of pathogenicity
Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Autoinflammatory syndrome
Health Risk
RS140557163
Conflicting classifications of pathogenicity
Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Inborn genetic diseases
Health Risk
RS1416370111
Conflicting classifications of pathogenicity
Autoinflammatory syndrome, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4
Health Risk
RS145273174
Conflicting classifications of pathogenicity
Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Inborn genetic diseases
Health Risk
RS1464438302
Conflicting classifications of pathogenicity
Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Autoinflammatory syndrome
Health Risk
RS147021864
Conflicting classifications of pathogenicity
Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Autoinflammatory syndrome
Health Risk
RS1474523535
Conflicting classifications of pathogenicity
Autoinflammatory syndrome, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4
Health Risk
RS147896952
Conflicting classifications of pathogenicity
Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Health Risk
RS149157799
Conflicting classifications of pathogenicity
Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Inborn genetic diseases
Health Risk
RS149451729
Conflicting classifications of pathogenicity
Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Autoinflammatory syndrome
Health Risk
RS1573494931
Conflicting classifications of pathogenicity
Autoinflammatory syndrome, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4
Health Risk
All Variants (50)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113631419 | Health Risk | Conflicting classifications of pathogenicity | Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4, Autoinflammatory syndrome |
| RS117094017 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Autoinflammatory syndrome |
| RS140557163 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Inborn genetic diseases |
| RS1416370111 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammatory syndrome, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4 |
| RS145273174 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Inborn genetic diseases |
| RS1464438302 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Autoinflammatory syndrome |
| RS147021864 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Autoinflammatory syndrome |
| RS1474523535 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammatory syndrome, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4 |
| RS147896952 | Health Risk | Conflicting classifications of pathogenicity | Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome |
| RS149157799 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Inborn genetic diseases |
| RS149451729 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Autoinflammatory syndrome |
| RS1573494931 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammatory syndrome, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4 |
| RS1573495011 | Health Risk | Conflicting classifications of pathogenicity | Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome |
| RS199475953 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4 |
| RS199646963 | Health Risk | Conflicting classifications of pathogenicity | Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome |
| RS200374202 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Autoinflammatory syndrome |
| RS2148942481 | Health Risk | Conflicting classifications of pathogenicity | Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4, Autoinflammatory syndrome |
| RS2466719809 | Health Risk | Conflicting classifications of pathogenicity | Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4, Inborn genetic diseases |
| RS374574191 | Health Risk | Conflicting classifications of pathogenicity | Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4, Inborn genetic diseases |
| RS544474213 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammatory syndrome, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4 |
| RS545004876 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Inborn genetic diseases |
| RS552117780 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Autoinflammatory syndrome |
| RS565573487 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4 |
| RS576282835 | Health Risk | Conflicting classifications of pathogenicity | Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4, NLRC4-related disorder |
| RS746822837 | Health Risk | Conflicting classifications of pathogenicity | Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4, Autoinflammatory syndrome |
| RS748510736 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Autoinflammatory syndrome |
| RS751001500 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4 |
| RS751915363 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Autoinflammatory syndrome |
| RS754559711 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4 |
| RS758432190 | Health Risk | Conflicting classifications of pathogenicity | Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4, Autoinflammatory syndrome |
| RS765641913 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, NLRC4-related disorder |
| RS770505969 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Autoinflammatory syndrome |
| RS774924596 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome |
| RS779390608 | Health Risk | Conflicting classifications of pathogenicity | Autoinflammatory syndrome, Inborn genetic diseases, Periodic fever-infantile enterocolitis-autoinflammatory syndrome |
| RS780229500 | Health Risk | Conflicting classifications of pathogenicity | Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4, Autoinflammatory syndrome |
| RS781002536 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, NLRC4-related disorder |
| RS952121500 | Health Risk | Conflicting classifications of pathogenicity | Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Autoinflammatory syndrome |
| RS1057518687 | Health Risk | Likely pathogenic | Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Periodic fever-infantile enterocolitis-autoinflammatory syndrome |
| RS1064795274 | Health Risk | Likely pathogenic | — |
| RS1553347334 | Health Risk | Likely pathogenic | Autoinflammatory syndrome, Autoinflammatory syndrome |
| RS1573493407 | Health Risk | Likely pathogenic | — |
| RS1573494025 | Health Risk | Likely pathogenic | — |
| RS2466764015 | Health Risk | Likely pathogenic | Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Periodic fever-infantile enterocolitis-autoinflammatory syndrome |
| RS774546369 | Health Risk | Likely pathogenic | Autoinflammatory syndrome, Autoinflammatory syndrome |
| RS1687057544 | Health Risk | Pathogenic | Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Periodic fever-infantile enterocolitis-autoinflammatory syndrome |
| RS2148942588 | Health Risk | Pathogenic | Familial cold autoinflammatory syndrome 4, Familial cold autoinflammatory syndrome 4 |
| RS587777840 | Health Risk | Pathogenic | Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome |
| RS587781260 | Health Risk | Pathogenic | Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4), Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4 |
| RS606231460 | Health Risk | Pathogenic | Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4 |
| RS2466760157 | Health Risk | Pathogenic/Likely pathogenic | Familial cold autoinflammatory syndrome 4, Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4 |