CARMIL2 Chromosome 16
Capping protein regulator and myosin 1 linker 2
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What This Gene Does
This gene encodes a member of the CARMIL (capping protein, Arp2/3, myosin-I linker) family of proteins. The encoded protein interacts with and negatively regulates the heterodimeric capping protein and promotes cell migration. Reduced expression of this gene has been observed in human psoriasis patients. Mutations in this gene cause a human immunodeficiency syndrome characterized by smooth muscle tumors and impaired T-cell function. [provided by RefSeq, May 2017]
Associated Conditions (6)
CARMIL2-related disorder
Thymoma
Severe combined immunodeficiency due to CARMIL2 deficiency
Inborn genetic diseases
Combined immunodeficiency
Chronic colitis
Key Variants
RS150710381
Conflicting classifications of pathogenicity
CARMIL2-related disorder, Thymoma, CARMIL2-related disorder
Health Risk
RS200219135
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to CARMIL2 deficiency, Severe combined immunodeficiency due to CARMIL2 deficiency
Health Risk
RS200875393
Conflicting classifications of pathogenicity
CARMIL2-related disorder, CARMIL2-related disorder
Health Risk
RS202220889
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to CARMIL2 deficiency, Severe combined immunodeficiency due to CARMIL2 deficiency
Health Risk
RS375266253
Conflicting classifications of pathogenicity
Health Risk
RS62059341
Conflicting classifications of pathogenicity
Health Risk
RS760147008
Conflicting classifications of pathogenicity
Inborn genetic diseases, CARMIL2-related disorder, Inborn genetic diseases
Health Risk
RS775061512
Conflicting classifications of pathogenicity
Severe combined immunodeficiency due to CARMIL2 deficiency, Severe combined immunodeficiency due to CARMIL2 deficiency
Health Risk
RS1234367830
Likely pathogenic
CARMIL2-related disorder, CARMIL2-related disorder
Health Risk
RS1278614363
Likely pathogenic
Severe combined immunodeficiency due to CARMIL2 deficiency, Severe combined immunodeficiency due to CARMIL2 deficiency
Health Risk
RS1555539013
Likely pathogenic
Health Risk
RS1567626023
Likely pathogenic
Severe combined immunodeficiency due to CARMIL2 deficiency, Severe combined immunodeficiency due to CARMIL2 deficiency
Health Risk
All Variants (59)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS779330130 | Health Risk | Pathogenic | — |
| RS866839255 | Health Risk | Pathogenic | — |
| RS886041043 | Health Risk | Pathogenic | Combined immunodeficiency, Severe combined immunodeficiency due to CARMIL2 deficiency, Combined immunodeficiency |
| RS886041044 | Health Risk | Pathogenic | Combined immunodeficiency, Severe combined immunodeficiency due to CARMIL2 deficiency, Combined immunodeficiency |
| RS903777283 | Health Risk | Pathogenic | — |
| RS1567629968 | Health Risk | Pathogenic/Likely pathogenic | Combined immunodeficiency, Chronic colitis, Severe combined immunodeficiency due to CARMIL2 deficiency |
| RS2543547067 | Health Risk | Pathogenic/Likely pathogenic | CARMIL2-related disorder, CARMIL2-related disorder |
| RS758210528 | Health Risk | Pathogenic/Likely pathogenic | Severe combined immunodeficiency due to CARMIL2 deficiency, Severe combined immunodeficiency due to CARMIL2 deficiency |
| RS767941878 | Health Risk | Pathogenic/Likely pathogenic | — |