Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID
(University Hospital "Alexandrovska")
General information
Clinic of Clinical Immunology with Stem Cell Bank, Expert Centre for Rare Diseases - PID
University Hospital "Alexandrovska"
Sofia
Bulgaria - 1431
Organization ID: 508564
Assertion criteria
Level: Assertion criteria not provided
Summary of submissions to ClinVar
Total submissions: 32
Gene
| Gene | Submissions | Last Updated |
|---|
| BTK | 1 | Sep 2, 2022 |
| CARD11 | 2 | Sep 2, 2022 |
| CYBB | 2 | Sep 2, 2022 |
| FASLG | 1 | Sep 2, 2022 |
| IL12RB1 | 1 | Sep 2, 2022 |
| IL2RG | 1 | Sep 2, 2022 |
| ITGB2 | 1 | Sep 2, 2022 |
| LIPA | 1 | Sep 13, 2022 |
| LOC106029312 | 2 | Sep 2, 2022 |
| LOC126862264 | 1 | Sep 2, 2022 |
| LOC126863274 | 1 | Sep 2, 2022 |
| MASP2 | 1 | Sep 2, 2022 |
| MEFV | 1 | Sep 2, 2022 |
| MPO | 1 | Sep 2, 2022 |
| MVK | 2 | Sep 2, 2022 |
| NBN | 1 | Sep 2, 2022 |
| NCF1 | 2 | Sep 2, 2022 |
| PTPRC | 1 | Sep 13, 2022 |
| RAG1 | 1 | Sep 2, 2022 |
| RFXANK | 1 | Sep 2, 2022 |
| STAT3 | 2 | Sep 2, 2022 |
| STING1 | 1 | Sep 2, 2022 |
| TCIRG1 | 1 | Sep 13, 2022 |
| TNFRSF13B | 7 | Sep 13, 2022 |
Condition
| Name | Submissions | Last Updated | | Autosomal recessive osteopetrosis 1 | 1 | Sep 13, 2022 |
| Familial Mediterranean fever | 1 | Sep 2, 2022 |
| Granulomatous disease, chronic, X-linked | 4 | Sep 2, 2022 |
| Hyper-IgE recurrent infection syndrome 1, autosomal dominant | 2 | Sep 2, 2022 |
| Hyperimmunoglobulin D with periodic fever | 2 | Sep 2, 2022 |
| Immunodeficiency 105 | 1 | Sep 13, 2022 |
| Immunodeficiency 11b with atopic dermatitis | 1 | Sep 2, 2022 |
| Immunodeficiency 98 with autoinflammation, X-linked | 1 | Sep 2, 2022 |
| Immunodeficiency due to MASP-2 deficiency | 1 | Sep 2, 2022 |
| Immunodeficiency, common variable, 1 | 4 | Sep 2, 2022 |
| Immunodeficiency, common variable, 2 | 3 | Sep 13, 2022 |
| Leukocyte adhesion deficiency 1 | 1 | Sep 2, 2022 |
| Lysosomal acid lipase deficiency | 1 | Sep 13, 2022 |
| MHC class II deficiency | 1 | Sep 2, 2022 |
| Microcephaly, normal intelligence and immunodeficiency | 1 | Sep 2, 2022 |
| Mycobacterium tuberculosis, susceptibility to | 1 | Sep 2, 2022 |
| Myeloperoxidase deficiency | 1 | Sep 2, 2022 |
| STING-associated vasculopathy with onset in infancy | 1 | Sep 2, 2022 |
| Severe combined immunodeficiency due to CARD11 deficiency | 1 | Sep 2, 2022 |
| Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive | 1 | Sep 2, 2022 |
| X-linked agammaglobulinemia | 1 | Sep 2, 2022 |
| X-linked severe combined immunodeficiency | 1 | Sep 2, 2022 |
