NM_005896.4(IDH1):c.395G>A (p.Arg132His)
|
SNV Germline/somatic |
Chr2:208248388 |
Pathogenic/Likely pathogenic |
Glioblastoma multiforme, somatic Oligodendroglioma Adenoid cystic carcinoma Neoplasm of the large intestine Astrocytoma Glioblastoma Transitional cell carcinoma of the bladder Myelodysplastic syndrome Medulloblastoma Malignant melanoma of skin Lung adenocarcinoma Breast neoplasm Hepatocellular carcinoma Brainstem glioma Prostate adenocarcinoma Multiple myeloma Neoplasm of brain Acute myeloid leukemia Condition: not provided Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Glioma susceptibility 1 Enchondromatosis Metaphyseal chondromatosis |
Criteria Provided Multiple Submitters No Conflicts |
CA170874 |
rs_121913500 |
9 SubmittersRCV000144504RCV000423229RCV000427239RCV000431117RCV000442517RCV000445280RCV000419255RCV000421389RCV000423408RCV000433068RCV000439554RCV000441845RCV000420454RCV000422344RCV000432047RCV000440637RCV000428884RCV000429987RCV001269510RCV000853347RCV001542733RCV002227447RCV003387509 |
NM_001386298.1(CIC):c.3370C>T (p.Arg1124Trp)
|
SNV Somatic |
Chr19:42287605 |
Likely pathogenic |
Anaplastic oligodendroglioma |
No Assertion Criteria Provided |
|
rs_1568504941 |
1 SubmittersRCV000786026 |