Variant · Snv
FASTKD2 NM_001136193.2(FASTKD2):c.2018A>G (p.Asn673Ser)
CI-VAR-00050402Explore in graph →p.Asn673SerNM_001136193.2:c.2018A>GClinVar 333808 rs142211558
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
- 2026-09-14
- Retrieved
- Sep 15, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260915-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 333808 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications | 1 | Mitochondrial complex IV deficiency, nuclear type 1; Inborn genetic diseases; FASTKD2-related disorder; Uterine corpus endometrial carcinoma; Colon adenocarcinoma; Hepatocellular carcinoma; Cervical cancer; Sarcoma; Uterine carcinosarcoma; Thymoma; Thyroid cancer, nonmedullary, 1; Clear cell carcinoma of kidney; Lung cancer; Familial cancer of breast | germline | 8 | May 01, 2026 | clinvar |