Visceral neuropathy, familial, 2, autosomal recessive: genes and variants
Explore variant evidence for Visceral neuropathy, familial, 2, autosomal recessive across 3 analyzed proteins (ERBB3, ERBB2, FLNA). Linked ClinVar records include 3 pathogenic or likely pathogenic variants, 21 variants of uncertain significance and 4 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Source labels are pooled across this disease family.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Visceral neuropathy, familial, 2, autosomal recessive
ERBB3: Receptor tyrosine-protein kinase erbB-3
It amplifies neuregulin and ERBB-family signaling primarily by heterodimerizing with catalytically active partners such as HER2 and strongly recruiting PI3K. Persistent signaling can promote tumor growth and resistance to targeted therapy.
2 ClinVar pathogenic / likely pathogenic and 4 uncertain variants in ERBB3 have source records linked to Visceral neuropathy, familial, 2, autosomal recessive. Association strength is not clinical gene validity.
ERBB2: Receptor tyrosine-protein kinase erbB-2
ERBB2, also called HER2, is a cell-surface receptor tyrosine kinase that works with other ERBB receptors to transmit growth signals. It helps organize signaling and cytoskeletal responses, and abnormal ERBB2 activity is a major feature of several cancers.
1 ClinVar pathogenic / likely pathogenic and 21 uncertain variants in ERBB2 have source records linked to Visceral neuropathy, familial, 2, autosomal recessive. Association strength is not clinical gene validity.
FLNA: Filamin-A
It crosslinks actin and connects the cytoskeleton to membrane receptors and signaling proteins during cell migration and tissue morphogenesis. Pathogenic variants cause a broad spectrum including periventricular nodular heterotopia and several skeletal or connective-tissue disorders.
0 ClinVar pathogenic / likely pathogenic and 0 uncertain variants in FLNA have source records linked to Visceral neuropathy, familial, 2, autosomal recessive. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Visceral neuropathy, familial, 2, autosomal recessive
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ERBB3 T787P | 787 | Protein kinase | Pathogenic / likely pathogenic (★) |
| ERBB3 V899M | 899 | Protein kinase | Pathogenic / likely pathogenic (★) |
| ERBB2 A710V | 710 | Cytoplasmic | Pathogenic / likely pathogenic |
Same protein, different disease
- Urinary bladder cancer also has ClinVar records linked to ERBB3 variants; they fall mostly in different places as the Visceral neuropathy, familial, 2, autosomal recessive variants (4 pathogenic / likely pathogenic).
- Urinary bladder cancer also has ClinVar records linked to ERBB2 variants; they fall mostly in different places as the Visceral neuropathy, familial, 2, autosomal recessive variants (6 pathogenic / likely pathogenic).
- Lung adenocarcinoma also has ClinVar records linked to ERBB2 variants; they fall mostly in different places as the Visceral neuropathy, familial, 2, autosomal recessive variants (3 pathogenic / likely pathogenic).
Diseases related to Visceral neuropathy, familial, 2, autosomal recessive
- Urinary bladder cancer, also linked to ERBB2 and ERBB3
- Non-small cell lung carcinoma, also linked to ERBB2 and ERBB3
- Medullary thyroid carcinoma, also linked to ERBB2 and ERBB3
- Familial thoracic aortic aneurysm and aortic dissection, also linked to FLNA
- Ovarian cancer, also linked to ERBB2
- Connective tissue disease, also linked to FLNA
- Colorectal cancer, also linked to ERBB2
- Gastric cancer, also linked to ERBB2
- Oto-palato-digital syndrome, type II, also linked to FLNA
- Heterotopia, periventricular, X-linked dominant, also linked to FLNA
- Frontometaphyseal dysplasia, also linked to FLNA
- Glioma susceptibility 1, also linked to ERBB2
Frequently asked questions
Which genes have records linked to Visceral neuropathy, familial, 2, autosomal recessive?
This view contains 3 analyzed proteins: ERBB3, ERBB2, FLNA. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 3 pathogenic or likely pathogenic variants, 21 variants of uncertain significance and 4 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 30 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses 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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