CCBE1 Chromosome 18
Collagen and calcium binding EGF domains 1
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What This Gene Does
This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010]
Associated Conditions (4)
Hennekam lymphangiectasia-lymphedema syndrome 1
CCBE1-related disorder
See cases
Inborn genetic diseases
Key Variants
RS114504060
Conflicting classifications of pathogenicity
Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1
Health Risk
RS116239086
Conflicting classifications of pathogenicity
Health Risk
RS121908253
Conflicting classifications of pathogenicity
Hennekam lymphangiectasia-lymphedema syndrome 1, CCBE1-related disorder, Hennekam lymphangiectasia-lymphedema syndrome 1
Health Risk
RS139059968
Conflicting classifications of pathogenicity
Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1
Health Risk
RS139165727
Conflicting classifications of pathogenicity
See cases, Hennekam lymphangiectasia-lymphedema syndrome 1, See cases
Health Risk
RS140459879
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hennekam lymphangiectasia-lymphedema syndrome 1, Inborn genetic diseases
Health Risk
RS141327514
Conflicting classifications of pathogenicity
Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1
Health Risk
RS144169027
Conflicting classifications of pathogenicity
Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1
Health Risk
RS147974432
Conflicting classifications of pathogenicity
Hennekam lymphangiectasia-lymphedema syndrome 1, CCBE1-related disorder, Hennekam lymphangiectasia-lymphedema syndrome 1
Health Risk
RS150355335
Conflicting classifications of pathogenicity
Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1
Health Risk
RS150596993
Conflicting classifications of pathogenicity
Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1
Health Risk
RS150717489
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (38)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS114504060 | Health Risk | Conflicting classifications of pathogenicity | Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1 |
| RS116239086 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS121908253 | Health Risk | Conflicting classifications of pathogenicity | Hennekam lymphangiectasia-lymphedema syndrome 1, CCBE1-related disorder, Hennekam lymphangiectasia-lymphedema syndrome 1 |
| RS139059968 | Health Risk | Conflicting classifications of pathogenicity | Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1 |
| RS139165727 | Health Risk | Conflicting classifications of pathogenicity | See cases, Hennekam lymphangiectasia-lymphedema syndrome 1, See cases |
| RS140459879 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hennekam lymphangiectasia-lymphedema syndrome 1, Inborn genetic diseases |
| RS141327514 | Health Risk | Conflicting classifications of pathogenicity | Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1 |
| RS144169027 | Health Risk | Conflicting classifications of pathogenicity | Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1 |
| RS147974432 | Health Risk | Conflicting classifications of pathogenicity | Hennekam lymphangiectasia-lymphedema syndrome 1, CCBE1-related disorder, Hennekam lymphangiectasia-lymphedema syndrome 1 |
| RS150355335 | Health Risk | Conflicting classifications of pathogenicity | Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1 |
| RS150596993 | Health Risk | Conflicting classifications of pathogenicity | Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1 |
| RS150717489 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS151243930 | Health Risk | Conflicting classifications of pathogenicity | Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1 |
| RS181010692 | Health Risk | Conflicting classifications of pathogenicity | Hennekam lymphangiectasia-lymphedema syndrome 1, CCBE1-related disorder, Hennekam lymphangiectasia-lymphedema syndrome 1 |
| RS191592668 | Health Risk | Conflicting classifications of pathogenicity | Hennekam lymphangiectasia-lymphedema syndrome 1, CCBE1-related disorder, Hennekam lymphangiectasia-lymphedema syndrome 1 |
| RS199573616 | Health Risk | Conflicting classifications of pathogenicity | Hennekam lymphangiectasia-lymphedema syndrome 1, CCBE1-related disorder, Hennekam lymphangiectasia-lymphedema syndrome 1 |
| RS200219373 | Health Risk | Conflicting classifications of pathogenicity | Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1 |
| RS201030273 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368065685 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS375674582 | Health Risk | Conflicting classifications of pathogenicity | Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1 |
| RS530079482 | Health Risk | Conflicting classifications of pathogenicity | Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1 |
| RS755608387 | Health Risk | Conflicting classifications of pathogenicity | Hennekam lymphangiectasia-lymphedema syndrome 1, CCBE1-related disorder, Hennekam lymphangiectasia-lymphedema syndrome 1 |
| RS756973760 | Health Risk | Conflicting classifications of pathogenicity | Hennekam lymphangiectasia-lymphedema syndrome 1, Inborn genetic diseases, Hennekam lymphangiectasia-lymphedema syndrome 1 |
| RS765502530 | Health Risk | Conflicting classifications of pathogenicity | Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1 |
| RS771507895 | Health Risk | Conflicting classifications of pathogenicity | Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1 |
| RS1487519669 | Health Risk | Likely pathogenic | Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1 |
| RS2143731723 | Health Risk | Likely pathogenic | — |
| RS367990953 | Health Risk | Likely pathogenic | Inborn genetic diseases, Hennekam lymphangiectasia-lymphedema syndrome 1, Inborn genetic diseases |
| RS764388085 | Health Risk | Likely pathogenic | — |
| RS121908250 | Health Risk | Pathogenic | Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1 |
| RS121908251 | Health Risk | Pathogenic | Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1 |
| RS121908252 | Health Risk | Pathogenic | Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1 |
| RS121908254 | Health Risk | Pathogenic | Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1 |
| RS149268172 | Health Risk | Pathogenic | — |
| RS201954546 | Health Risk | Pathogenic | Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1 |
| RS2511547533 | Health Risk | Pathogenic | — |
| RS2511612946 | Health Risk | Pathogenic | — |
| RS563023244 | Health Risk | Pathogenic | Hennekam lymphangiectasia-lymphedema syndrome 1, Hennekam lymphangiectasia-lymphedema syndrome 1 |