Variant · Insertion
BMPR1A NM_004329.3(BMPR1A):c.224_225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNNNNNNNNNNNNNNNNNNNNGCCGGCGGCTGCTCCTTGCCCTCGGGCCCCGCGGGGCCCGTCCGCTCCTCCAGCCGCTGCCTCCCGGGCGGCGCTCGCCGGCGCGGCGGCAAAGACTGCATGTAAGTA (p.Thr75_Cys76insPhePhePhePhePhePhePhePhePhePhePheXaaXaaXaaXaaXaaXaaXaaXaaXaaXaaProAlaAlaAlaProCysProArgAlaProArgGlyProSerAlaProProAlaAlaAlaSerArgAlaAlaLeuAlaGlyAlaAlaAlaLysThrAlaCysLysTer)
CI-VAR-00174862Explore in graph →p.Thr75_Cys76insPhePhePhePhePhePhePhePhePhePhePheXaaXaaXaaXaaXaaXaaXaaXaaXaaXaaProAlaAlaAlaProCysProArgAlaProArgGlyProSerAlaProProAlaAlaAlaSerArgAlaAlaLeuAlaGlyAlaAlaAlaLysThrAlaCysLysTerNM_004329.3:c.224_225insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNNNNNNNNNNNNNNNNNNNNGCCGGCGGCTGCTCCTTGCCCTCGGGCCCCGCGGGGCCCGTCCGCTCCTCCAGCCGCTGCCTCCCGGGCGGCGCTCGCCGGCGCGGCGGCAAAGACTGCATGTAAGTAClinVar 1025617 rs1843128484
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
ClinVar
Clinical significance (1)
ClinVar interpretations are shown as structured records — significance, review status, star rating, conditions — never flattened into one word.
- Source
- NCBI ClinVar (variant_summary)
- Dataset
- ClinVar variant_summary
- Version
- 2026-09-06
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Evidence
- database
- License
- Public domain (US Government work, NCBI/NLM); acknowledgment requested
- Run
- ING-CLINVAR-20260908-000001
| Variation | Clinical significance | Review status | Stars | Conditions | Origin | Submitters | Last evaluated | Source |
|---|---|---|---|---|---|---|---|---|
| 1025617 | Uncertain significance | criteria provided, single submitter | 1 | Juvenile polyposis syndrome | germline | 1 | Aug 24, 2017 | clinvar |