NBEAL2 Chromosome 3
Neurobeachin like 2
Upload your DNA to see your personal genotypes for variants in NBEAL2.
What This Gene Does
The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray platelet syndrome. [provided by RefSeq, Dec 2011]
Gene Info
Gene Group
"WD repeat domain containing|BEACH domain containing |Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000160796
Associated Conditions (14)
Gray platelet syndrome
Thrombocytopenia
Abnormal bleeding
Inborn genetic diseases
NBEAL2-related disorder
Colon adenocarcinoma
Ovarian serous cystadenocarcinoma
Uveal melanoma
Sarcoma
Acute myeloid leukemia
Malignant tumor of esophagus
Ovarian cancer
Malignant tumor of urinary bladder
Pancreatic adenocarcinoma
Key Variants
RS140354422
Conflicting classifications of pathogenicity
Gray platelet syndrome, Thrombocytopenia, Abnormal bleeding
Health Risk
RS144664865
Conflicting classifications of pathogenicity
Gray platelet syndrome, NBEAL2-related disorder, Gray platelet syndrome
Health Risk
RS145760682
Conflicting classifications of pathogenicity
Gray platelet syndrome, NBEAL2-related disorder, Gray platelet syndrome
Health Risk
RS181413143
Conflicting classifications of pathogenicity
Gray platelet syndrome, Thrombocytopenia, Abnormal bleeding
Health Risk
RS185057557
Conflicting classifications of pathogenicity
Gray platelet syndrome, Inborn genetic diseases, Gray platelet syndrome
Health Risk
RS187699322
Conflicting classifications of pathogenicity
Health Risk
RS199797249
Conflicting classifications of pathogenicity
Gray platelet syndrome, Gray platelet syndrome
Health Risk
RS200100160
Conflicting classifications of pathogenicity
Gray platelet syndrome, NBEAL2-related disorder, Gray platelet syndrome
Health Risk
RS200121105
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS200204458
Conflicting classifications of pathogenicity
NBEAL2-related disorder, Inborn genetic diseases, NBEAL2-related disorder
Health Risk
RS200622688
Conflicting classifications of pathogenicity
Gray platelet syndrome, Thrombocytopenia, Abnormal bleeding
Health Risk
RS201179667
Conflicting classifications of pathogenicity
Gray platelet syndrome, Gray platelet syndrome
Health Risk
All Variants (94)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2107416663 | Health Risk | Likely pathogenic | Gray platelet syndrome, Gray platelet syndrome |
| RS2107437335 | Health Risk | Likely pathogenic | Gray platelet syndrome, Gray platelet syndrome |
| RS2107445568 | Health Risk | Likely pathogenic | Gray platelet syndrome, Gray platelet syndrome |
| RS2107448208 | Health Risk | Likely pathogenic | Gray platelet syndrome, Gray platelet syndrome |
| RS2107453711 | Health Risk | Likely pathogenic | Gray platelet syndrome, Gray platelet syndrome |
| RS2545268573 | Health Risk | Likely pathogenic | Gray platelet syndrome, Gray platelet syndrome |
| RS2545271813 | Health Risk | Likely pathogenic | NBEAL2-related disorder, NBEAL2-related disorder |
| RS2545319654 | Health Risk | Likely pathogenic | Gray platelet syndrome, Gray platelet syndrome |
| RS2545341177 | Health Risk | Likely pathogenic | NBEAL2-related disorder, NBEAL2-related disorder |
| RS762258197 | Health Risk | Likely pathogenic | Gray platelet syndrome, Gray platelet syndrome |
| RS778587914 | Health Risk | Likely pathogenic | — |
| RS948953674 | Health Risk | Likely pathogenic | Gray platelet syndrome, Gray platelet syndrome |
| RS1172581672 | Health Risk | Pathogenic | Gray platelet syndrome, Gray platelet syndrome |
| RS1283560494 | Health Risk | Pathogenic | — |
| RS1285731171 | Health Risk | Pathogenic | Thrombocytopenia, Abnormal bleeding, Thrombocytopenia |
| RS1349443190 | Health Risk | Pathogenic | Gray platelet syndrome, Malignant tumor of urinary bladder, Gray platelet syndrome |
| RS1553659758 | Health Risk | Pathogenic | Gray platelet syndrome, Gray platelet syndrome |
| RS1553663498 | Health Risk | Pathogenic | Gray platelet syndrome, NBEAL2-related disorder, Gray platelet syndrome |
| RS1575592157 | Health Risk | Pathogenic | Gray platelet syndrome, Gray platelet syndrome |
| RS1575623114 | Health Risk | Pathogenic | Gray platelet syndrome, Gray platelet syndrome |
| RS1575629721 | Health Risk | Pathogenic | Gray platelet syndrome, Gray platelet syndrome |
| RS2036418481 | Health Risk | Pathogenic | Gray platelet syndrome, Gray platelet syndrome |
| RS2036570687 | Health Risk | Pathogenic | Gray platelet syndrome, Gray platelet syndrome |
| RS2036579205 | Health Risk | Pathogenic | Gray platelet syndrome, Gray platelet syndrome |
| RS2037042664 | Health Risk | Pathogenic | Gray platelet syndrome, Gray platelet syndrome |
| RS2037048154 | Health Risk | Pathogenic | Gray platelet syndrome, Gray platelet syndrome |
| RS2037363765 | Health Risk | Pathogenic | Gray platelet syndrome, Gray platelet syndrome |
| RS2037428827 | Health Risk | Pathogenic | Gray platelet syndrome, Gray platelet syndrome |
| RS2037501401 | Health Risk | Pathogenic | Gray platelet syndrome, Gray platelet syndrome |
| RS2037558268 | Health Risk | Pathogenic | Gray platelet syndrome, Gray platelet syndrome |
| RS2107416290 | Health Risk | Pathogenic | Gray platelet syndrome, Gray platelet syndrome |
| RS2545201248 | Health Risk | Pathogenic | — |
| RS2545337256 | Health Risk | Pathogenic | Gray platelet syndrome, Gray platelet syndrome |
| RS372277612 | Health Risk | Pathogenic | Gray platelet syndrome, Gray platelet syndrome |
| RS387907112 | Health Risk | Pathogenic | Gray platelet syndrome, Gray platelet syndrome |
| RS387907113 | Health Risk | Pathogenic | Gray platelet syndrome, Gray platelet syndrome |
| RS387907114 | Health Risk | Pathogenic | Gray platelet syndrome, Gray platelet syndrome |
| RS387907115 | Health Risk | Pathogenic | Gray platelet syndrome, Gray platelet syndrome |
| RS764413796 | Health Risk | Pathogenic | — |
| RS781366964 | Health Risk | Pathogenic | Gray platelet syndrome, Gray platelet syndrome |
| RS794726682 | Health Risk | Pathogenic | Gray platelet syndrome, Gray platelet syndrome |
| RS794726683 | Health Risk | Pathogenic | Gray platelet syndrome, Gray platelet syndrome |
| RS886041677 | Health Risk | Pathogenic | — |
| RS763842878 | Health Risk | Pathogenic/Likely pathogenic | Gray platelet syndrome, Pancreatic adenocarcinoma, Gray platelet syndrome |