Neuroblastoma: genes and variants
Neuroblastoma is linked to 2 analyzed proteins (ALK and BARD1). 1 DNA variants are known to cause it; 2,086 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Also known as: neuroblastoma, susceptibility to, 3
Genes linked to Neuroblastoma
ALK: ALK tyrosine kinase receptor
Its kinase signaling influences neural development and cell growth, but constitutive activation can become strongly oncogenic. ALK fusions, activating mutations, or amplification drive anaplastic large-cell lymphoma, subsets of lung cancer, and neuroblastoma and can be targeted with ALK inhibitors.
1 disease-causing and 2,082 uncertain variants in ALK are linked to Neuroblastoma.
BARD1: BRCA1-associated RING domain protein 1
It forms a heterodimer with BRCA1 that supports homologous recombination, DNA-damage signaling, and ubiquitin-dependent regulation at damaged chromatin. Germline loss-of-function variants confer increased breast-cancer susceptibility, particularly for some aggressive subtypes.
0 disease-causing and 0 uncertain variants in BARD1 are linked to Neuroblastoma.
Weakly linked (only a few uncertain records): DICER1, FGFR1, MEN1, MET, NRAS, NTRK2, PHF6, PINK1 and 2 more.
Known disease-causing variants in Neuroblastoma
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ALK I1171T | 1171 | Protein kinase | Disease-causing |
Diseases related to Neuroblastoma
- Ovarian cancer, also linked to ALK and BARD1
- Familial cancer of breast, also linked to BARD1
- Gastric cancer, also linked to BARD1
- Non-small cell lung carcinoma, also linked to ALK
- Hereditary breast ovarian cancer syndrome, also linked to BARD1
- Lung cancer, also linked to ALK
- Breast and/or ovarian cancer, also linked to BARD1
Frequently asked questions
Which genes are linked to Neuroblastoma?
In CATVariant, Neuroblastoma is linked to 2 analyzed proteins: ALK (ALK tyrosine kinase receptor) and BARD1 (BRCA1-associated RING domain protein 1).
How many genetic variants are linked to Neuroblastoma?
2,102 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 2,086 are of uncertain significance or have conflicting reports.
Which uncertain variants in Neuroblastoma look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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