CIViC Evidence Items
4766 evidence items indexed
Evidence Level Distribution
CIViC evidence levels reflect study design quality, from A (strongest) to E (weakest).
AValidated — meta-analysis, systematic review, or major guideline
BClinical — prospective trial or retrospective cohort study
CCase study — single case report or small case series
DPreclinical — in vitro or animal model data
EInferential — computational prediction or biological rationale
Gene × Evidence Type
Count of CIViC evidence items per gene and evidence type category. Hover a column header for the type definition.
| Predictive | Diagnostic | Prognostic | Functional | Predispos. | Oncogenic | |
|---|---|---|---|---|---|---|
| BCR::ABL1 | 323 | 11 | ||||
| BRAF | 186 | 4 | 26 | 2 | 1 | |
| EGFR | 248 | 12 | 3 | 2 | ||
| EML4::ALK | 64 | |||||
| ERBB2 | 142 | 2 | ||||
| FLT3 | 55 | 2 | 21 | |||
| KIT | 102 | 3 | 7 | |||
| KRAS | 159 | 4 | 24 | 4 | ||
| PIK3CA | 156 | 16 | 4 | |||
| PTEN | 53 | 1 | 3 | 1 | 2 | 1 |
| TP53 | 52 | 40 | 100 | 2 | ||
| VHL | 5 | 2 | 3 | 635 | 15 |
Predictive:Links a variant to treatment response or resistance
Diagnostic:Supports or refutes a specific disease diagnosis
Prognostic:Informs disease progression or clinical outcome
Functional:Characterises the biological effect of a variant
Predisposing:Germline variant associated with cancer predisposition
Oncogenic:Characterises the variant's role in oncogenesis
| Level | Gene | Variant | Type | Direction | Significance | Disease | Drugs | Source |
|---|---|---|---|---|---|---|---|---|
| C | VHL | C77fs (c.230del) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 1995 | |
| C | VHL | L118P (c.353T>C) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 1995 | |
| C | VHL | Q96_P97delinsH (c.288_290del) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 1995 | |
| C | VHL | G144fs (c.429_439del) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | 1995 | |
| C | VHL | G114R (c.340G>C) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Chen et al., 1995 | |
| D | BCR::ABL1 | Fusion AND ABL1 G250E | Predictive | Supports | Sensitivity/Response | Cancer | Dasatinib | Deguchi et al., 2008 |
| D | BCR::ABL1 | Fusion AND ABL1 H396P | Predictive | Supports | Sensitivity/Response | Cancer | Dasatinib | Deguchi et al., 2008 |
| D | SPOP | M117V | Functional | Supports | Loss of Function | Zhang et al., 2015 | ||
| B | NUP214::ABL1 | Fusion | Prognostic | Supports | Better Outcome | B-lymphoblastic Leukemia/lymphoma | den Boer et al., 2021 | |
| C | SFPQ::ABL1 | Fusion | Oncogenic | Supports | Oncogenicity | B-lymphoblastic Leukemia/lymphoma | Duhoux et al., 2011 | |
| C | SFPQ::ABL1 | Fusion | Predictive | Supports | Sensitivity/Response | B-lymphoblastic Leukemia/lymphoma | Imatinib,Dasatinib | Biloglav et al., 2020 |
| C | SFPQ::ABL1 | Fusion | Diagnostic | Supports | Positive | B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like | Sheng et al., 2017 | |
| C | RCSD1::ABL1 | Fusion | Predictive | Supports | Sensitivity/Response | B-lymphoblastic Leukemia/lymphoma | Dasatinib | Mustjoki et al., 2009 |
| C | RCSD1::ABL1 | Fusion | Predictive | Supports | Reduced Sensitivity | B-lymphoblastic Leukemia/lymphoma | Dasatinib | Inokuchi et al., 2011 |
| C | RCSD1::ABL1 | Fusion | Diagnostic | Supports | Positive | B-lymphoblastic Leukemia/lymphoma | De Braekeleer et al., 2013 | |
| C | RCSD1::ABL1 | Fusion | Predictive | Supports | Sensitivity/Response | B-lymphoblastic Leukemia/lymphoma | Dasatinib | Frech et al., 2017 |
| C | ETV6::ABL1 | Fusion | Predictive | Supports | Sensitivity/Response | B-lymphoblastic Leukemia/lymphoma | Imatinib | Mankuzhy et al., 2019 |
| C | SNX2::ABL1 | Fusion | Diagnostic | Supports | Positive | B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like | Imamura et al., 2016 | |
| C | SNX2::ABL1 | Fusion | Diagnostic | Supports | Positive | B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like | Roberts et al., 2014 | |
| C | RCSD1::ABL1 | Fusion | Predictive | Supports | Sensitivity/Response | B-lymphoblastic Leukemia/lymphoma | Ponatinib | Collette et al., 2015 |
| D | SPOP | R121Q | Functional | Supports | Loss of Function | Zhang et al., 2015 | ||
| D | SPOP | M117I | Functional | Supports | Loss of Function | Zhang et al., 2015 | ||
| C | EGFR | A767_V769dupASV | Predictive | Supports | Sensitivity/Response | Lung Non-small Cell Carcinoma | Osimertinib | Fang et al., 2019 |
| C | EGFR | D770_N771insG | Predictive | Supports | Sensitivity/Response | Lung Non-small Cell Carcinoma | Osimertinib | Fang et al., 2019 |
| C | EGFR | S768_D770dup | Predictive | Supports | Sensitivity/Response | Lung Non-small Cell Carcinoma | Osimertinib | Fang et al., 2019 |
| D | ATRX | Deletion | Predictive | Supports | Sensitivity/Response | Cancer | Cisplatin,Fluorouracil | Conte et al., 2012 |
| B | CDKN1A | rs1059234 | Predisposing | Supports | Predisposition | Retinoblastoma | Carvalho et al., 2013 | |
| D | TP53 | A161T | Functional | Supports | Loss of Function | Pekova et al., 2011 | ||
| C | MEF2D::CSF1R | Fusion | Predictive | Supports | Sensitivity/Response | B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like | Imatinib | Tanasi et al., 2019 |
| C | TBL1XR1::CSF1R | Fusion | Diagnostic | Supports | Positive | B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like | Reshmi et al., 2017 | |
| D | EZH2 | Y646 | Functional | Supports | Gain of Function | Sneeringer et al., 2010 | ||
| D | PTEN | C136R | Functional | Supports | Loss of Function | He et al., 2013 | ||
| D | EZH2 | Y646F | Functional | Supports | Gain of Function | Yap et al., 2011 | ||
| D | EZH2 | Y646N | Functional | Supports | Gain of Function | Yap et al., 2011 | ||
| D | EZH2 | Y646F | Functional | Supports | Loss of Function | Yap et al., 2011 | ||
| D | EZH2 | Y646N | Functional | Supports | Loss of Function | Yap et al., 2011 | ||
| D | EZH2 | Y646H | Functional | Supports | Gain of Function | Yap et al., 2011 | ||
| D | EZH2 | Y646S | Functional | Supports | Gain of Function | Yap et al., 2011 | ||
| B | H3-3A | G34R | Diagnostic | Supports | Positive | Diffuse Glioma, H3 G34 Mutant | Wu et al., 2012 | |
| D | BRAF | G463E | Oncogenic | Supports | Oncogenicity | Cancer | Wan et al., 2004 | |
| C | VHL | L158P (c.473T>C) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Dollfus et al., 2002 | |
| C | VHL | R167Q (c.500G>A) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Dollfus et al., 2002 | |
| C | VHL | N78S (c.233A>G) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Dollfus et al., 2002 | |
| C | VHL | R161* (c.481C>T) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Dollfus et al., 2002 | |
| C | VHL | R113* (c.337C>T) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Dollfus et al., 2002 | |
| B | H3C2 | K27M | Diagnostic | Supports | Positive | Diffuse Midline Glioma, H3 K27M-mutant | Wu et al., 2012 | |
| D | NFE2L2 | G31A | Functional | Supports | Gain of Function | Kim et al., 2016 | ||
| C | LMNA::NTRK1 | Fusion | Predictive | Supports | Sensitivity/Response | Solid Tumor | Larotrectinib | Hong et al., 2019 |
| A | EZH2 | Activating Mutation | Predictive | Supports | Sensitivity/Response | Follicular Lymphoma | Tazemetostat | Morschhauser et al., 2020 |
| C | BRAF | T599dup | Predictive | Supports | Sensitivity/Response | Ganglioglioma | Trametinib,Dabrafenib | Miller et al., 2021 |