Variant · Snv
GJB2 NM_004004.6(GJB2):c.-22-2A>C
CI-VAR-00055590Explore in graph →NM_004004.6:c.-22-2A>CClinVar 375406 rs201895089
Curated evidence
Evidence by cancer (0 items)
Grouped by cancer context first, then therapy. The same variant can be sensitizing in one cancer and irrelevant in another — contexts are never merged. 50 items per page; a cancer group may continue on the next page.
Data not yet available
No curated evidence item references this variant yet.
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
clinvarProvenance
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-24
- Retrieved
- Sep 29, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260929-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 375406 | Likely pathogenic | reviewed by expert panel | 3 | Autosomal recessive nonsyndromic hearing loss 1A; Nonsyndromic genetic hearing loss; Ichthyosis, hystrix-like, with hearing loss; Autosomal dominant nonsyndromic hearing loss 3A; GJB2-related disorder; Mutilating keratoderma; Palmoplantar keratoderma-deafness syndrome; Knuckle pads, deafness AND leukonychia syndrome; Nonpapillary renal cell carcinoma; Cervical cancer; Sarcoma; Malignant tumor of urinary bladder; Melanoma; Hepatocellular carcinoma; Clear cell carcinoma of kidney; Monogenic hearing loss | germline | 25 | Apr 12, 2021 | clinvar |