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 | ZNF274::JAK2 | Fusion | Diagnostic | Supports | Positive | B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like | Reshmi et al., 2017 | |
| C | RFX3::JAK2 | Fusion | Diagnostic | Supports | Positive | B-lymphoblastic Leukemia/lymphoma, BCR-ABL1–like | Reshmi et al., 2017 | |
| C | BRCA2 | K3326* | Predictive | Supports | Sensitivity/Response | Glioblastoma | Temozolomide,Olaparib | Valiakhmetova et al., 2020 |
| C | BRAF | N486_P490del | Predictive | Supports | Sensitivity/Response | Pancreatic Cancer | Trametinib | Aguirre et al., 2018 |
| C | NRF1::BRAF | Fusion | Predictive | Supports | Sensitivity/Response | Transitional Cell Carcinoma | Trametinib | Isaacson et al., 2019 |
| C | CDKN2A | c.151-1G>C | Predisposing | Supports | Predisposition | Melanoma | Petronzelli et al., 2001 | |
| D | BCR::ABL1 | Fusion AND ABL1 T315I | Predictive | Does Not Support | Resistance | Acute Lymphoblastic Leukemia | Axitinib,Ponatinib | Pemovska et al., 2015 |
| D | BCR::ABL1 | Fusion AND ABL1 T315I | Predictive | Supports | Resistance | Acute Lymphoblastic Leukemia | Imatinib,Dasatinib,Nilotinib | Pemovska et al., 2015 |
| D | BCR::ABL1 | Fusion AND ABL1 T315I | Predictive | Does Not Support | Resistance | Chronic Myeloid Leukemia | Ponatinib | Pemovska et al., 2015 |
| D | BCR::ABL1 | Fusion AND ABL1 T315I | Predictive | Supports | Resistance | Chronic Myeloid Leukemia | Nilotinib,Dasatinib,Imatinib | Pemovska et al., 2015 |
| C | RCSD1::ABL1 | Fusion | Predictive | Supports | Sensitivity/Response | B-lymphoblastic Leukemia/lymphoma | Imatinib | Perwein et al., 2016 |
| C | MET::ATXN7L1 | Fusion | Predictive | Supports | Sensitivity/Response | Lung Non-small Cell Carcinoma | Crizotinib | Zhu et al., 2018 |
| C | MET | Exon 14 Skipping Mutation | Predictive | Supports | Sensitivity/Response | Histiocytic And Dendritic Cell Cancer | Crizotinib | Frampton et al., 2015 |
| D | MET | Exon 14 Skipping Mutation | Predictive | Supports | Sensitivity/Response | Cancer | Capmatinib | Frampton et al., 2015 |
| D | ERBB2 | Amplification | Predictive | Supports | Sensitivity/Response | Colorectal Cancer | Afatinib | Leto et al., 2015 |
| C | FGFR1 | Amplification | Predictive | Supports | Sensitivity/Response | Adenosquamous Lung Carcinoma | Pazopanib | Malchers et al., 2014 |
| C | BCR::ABL1 | Fusion AND ABL1 H396R | Predictive | Does Not Support | Resistance | Chronic Myeloid Leukemia | Dasatinib | Talpaz et al., 2006 |
| C | FGFR2 | P253R | Predictive | Supports | Sensitivity/Response | Head And Neck Squamous Cell Carcinoma | Pazopanib | Liao et al., 2013 |
| D | BCR::ABL1 | Fusion | Predictive | Supports | Sensitivity/Response | Chronic Myeloid Leukemia | Nilotinib,Bafetinib,Dasatinib | Deguchi et al., 2008 |
| D | BCR::ABL1 | Fusion AND ABL1 F317L | Predictive | Supports | Resistance | Cancer | Imatinib,Dasatinib | Deguchi et al., 2008 |
| D | BCR::ABL1 | Fusion AND ABL1 M351T | Predictive | Supports | Resistance | Cancer | Imatinib | Deguchi et al., 2008 |
| D | BCR::ABL1 | Fusion AND ABL1 T315A | Predictive | Does Not Support | Resistance | Cancer | Bafetinib,Nilotinib | Deguchi et al., 2008 |
| D | BCR::ABL1 | Fusion AND ABL1 F317V | Predictive | Does Not Support | Resistance | Cancer | Nilotinib,Bafetinib,Imatinib | Deguchi et al., 2008 |
| D | BCR::ABL1 | Fusion AND ABL1 T315A | Predictive | Supports | Resistance | Cancer | Dasatinib,Imatinib | Deguchi et al., 2008 |
| D | BCR::ABL1 | Fusion AND ABL1 F317V | Predictive | Supports | Resistance | Cancer | Dasatinib | Deguchi et al., 2008 |
| D | BCR::ABL1 | Fusion AND ABL1 H396P | Predictive | Does Not Support | Resistance | Cancer | Bafetinib,Nilotinib | Deguchi et al., 2008 |
| D | BCR::ABL1 | Fusion AND ABL1 H396P | Predictive | Supports | Resistance | Cancer | Imatinib | Deguchi et al., 2008 |
| D | BCR::ABL1 | Fusion AND ABL1 Y253F | Predictive | Supports | Resistance | Cancer | Imatinib | Deguchi et al., 2008 |
| D | BCR::ABL1 | Fusion AND ABL1 Q252H | Predictive | Supports | Resistance | Cancer | Imatinib,Bafetinib | Deguchi et al., 2008 |
| D | BCR::ABL1 | Fusion AND ABL1 M244V | Predictive | Supports | Resistance | Cancer | Bafetinib,Imatinib | Deguchi et al., 2008 |
| C | JAK1 | OVEREXPRESSION | Predictive | Supports | Sensitivity/Response | Sarcoma | Ruxolitinib | Newton et al., 2018 |
| D | BCR::ABL1 | Fusion AND ABL1 G250E | Predictive | Supports | Resistance | Cancer | Bafetinib,Imatinib | Deguchi et al., 2008 |
| D | EML4::ALK | Fusion AND ABCB1 Overexpression | Predictive | Supports | Resistance | Lung Adenocarcinoma | Crizotinib,Ceritinib | Katayama et al., 2016 |
| D | LYN | OVEREXPRESSION | Predictive | Does Not Support | Resistance | Chronic Myeloid Leukemia | Bafetinib,Dasatinib | Deguchi et al., 2008 |
| B | PRPS1 | A190T | Prognostic | Supports | Poor Outcome | B-lymphoblastic Leukemia/lymphoma | Li et al., 2015 | |
| C | VHL | L188V (c.562C>G) | Predisposing | Supports | Predisposition | Von Hippel-Lindau Disease | Lui et al., 2002 | |
| C | VHL | L178Q (c.533T>A) | Predisposing | N/A | Von Hippel-Lindau Disease | Lui et al., 2002 | ||
| C | VHL | R161Q (c.482G>A) | Predisposing | N/A | Von Hippel-Lindau Disease | Lui et al., 2002 | ||
| C | VHL | 106insR (c.316insGCC) | Predisposing | N/A | Von Hippel-Lindau Disease | Lui et al., 2002 | ||
| C | VHL | N78S (c.233A>G) | Predisposing | N/A | Von Hippel-Lindau Disease | Lui et al., 2002 | ||
| C | VHL | C77_N78insL (c.230_231insTCT) | Predisposing | N/A | Von Hippel-Lindau Disease | Lui et al., 2002 | ||
| C | VHL | C162W (c.486C>G) | Predisposing | N/A | Von Hippel-Lindau Disease | Lui et al., 2002 | ||
| D | PRPS1 | A190T | Predictive | Supports | Sensitivity/Response | B-lymphoblastic Leukemia/lymphoma | Lometrexol,Mercaptopurine | Li et al., 2015 |
| D | PRPS1 | D139G | Predictive | Does Not Support | Resistance | B-lymphoblastic Leukemia/lymphoma | Thioguanine,Mercaptopurine | Li et al., 2015 |
| D | PRPS1 | C77S | Predictive | Does Not Support | Resistance | B-lymphoblastic Leukemia/lymphoma | Mercaptopurine,Thioguanine | Li et al., 2015 |
| D | PRPS1 | I72V | Predictive | Does Not Support | Resistance | B-lymphoblastic Leukemia/lymphoma | Thioguanine,Mercaptopurine | Li et al., 2015 |
| D | PRPS1 | V53A | Predictive | Does Not Support | Resistance | B-lymphoblastic Leukemia/lymphoma | Mercaptopurine,Thioguanine | Li et al., 2015 |
| D | PRPS1 | L191F | Predictive | Does Not Support | Resistance | B-lymphoblastic Leukemia/lymphoma | Methotrexate,Asparaginase,Daunorubicin | Li et al., 2015 |
| D | PRPS1 | S103T | Predictive | Does Not Support | Resistance | B-lymphoblastic Leukemia/lymphoma | Methotrexate,Cytarabine,Asparaginase,Daunorubicin | Li et al., 2015 |
| D | PRPS1 | S103N | Predictive | Does Not Support | Resistance | B-lymphoblastic Leukemia/lymphoma | Cytarabine,Asparaginase,Methotrexate,Daunorubicin | Li et al., 2015 |