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| HGNC | Alias | Select Screen™ profiling status | Clinical Relevance | Drug Resistance |
|---|---|---|---|---|
| ABL1 E255K |
YES
| Chronic Myeloid Leukemia/ Gastrointestinal Stromal Tumor | Gleevec® (Novartis) | |
| ABL1 G250E |
YES
| Chronic Myeloid Leukemia/ Gastrointestinal Stromal Tumor | Gleevec® (Novartis) | |
| ABL1 T315I |
YES
| Chronic Myeloid Leukemia/ Gastrointestinal Stromal Tumor | Gleevec® (Novartis) | |
| ABL1 Y253F |
YES
| Chronic Myeloid Leukemia/ Gastrointestinal Stromal Tumor | Gleevec® (Novartis) | |
| BRAF V599E |
YES
| Melanoma/Papillary Thyroid Carcinoma | ||
| EGFR L858R | ErbB1 L858R |
YES
| Non-Small Cell Lung Carcinoma | |
| EGFR L861Q | ErbB1 L861Q |
YES
| Non-Small Cell Lung Carcinoma | |
| EGFR T790M | ErbB1 T790M |
YES
| Non-Small Cell Lung Carcinoma | Erlotinib (Tarceva®) and Gefitinib (Iressa®) |
| EGFR T790M L858R | ErbB1 T790M L858R |
NO
| Non-Small Cell Lung Carcinoma | |
| FGFR3 K650E |
YES
| Multiple Myeloma, Cervical Carcinoma, Bladder Carcinoma | ||
| FLT3 D835Y |
YES
| Acute Myeloid Leukemia | ||
| JAK2 JH1 JH2 V617F |
NO
| Myeloid Leukemia, Lymphoid Leukemia | ||
| KIT T670I | cKit T670I |
YES
| Gastrointestinal Stromal Tumor | Gleevec® (Novartis) |
| KIT V654A | cKit V654A |
NO
| Gastrointestinal Stromal Tumor | Gleevec® (Novartis) |
| LRRK2 G2019S |
YES
| Parkinson's disease | ||
| LRRK2 G2019S Full Length | AURA17, PARK8, RIPK7, ROCO2 | YES | Parkinson’s Disease | |
| MAP2K1, mutant | MEK1 |
NO
| ||
| MAP2K6, mutant | MKK6, MEK6 |
NO
| ||
| MET M1250T |
YES
| Papillary Renal Carcinoma | ||
| PDGFRA D842V |
YES
| Gastrointestinal Stromal Tumor | Gleevec® (Novartis) | |
| PDGFRA T674I |
YES
| Gastrointestinal stromal tumor | Gleevec® (Novartis) | |
| RET Y791F |
YES
| Thyroid carcinoma | ||
| RET V804L |
YES
| Thyroid carcinoma |
仅供科研使用,不可用于诊断目的。