Total 179 pathogenic variants reported for Multiple myeloma

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter)	SNV Germline	Chr13:108208829	Pathogenic/Likely pathogenic	DNA ligase IV deficiency Condition: not provided Multiple myeloma DNA ligase IV deficiency Inborn genetic diseases prenatal LIG4 syndrome with aqueductal stenosis LIG4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA118975	rs_104894419	12 SubmittersRCV000008112 RCV000399723 RCV000763320 RCV000623453 RCV003483426 RCV004532308
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)	SNV Germline/somatic	Chr17:7674221	Pathogenic	Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Brainstem glioma Hereditary cancer-predisposing syndrome Ovarian serous cystadenocarcinoma Myelodysplastic syndrome Condition: not provided Squamous cell lung carcinoma Neoplasm Acute myeloid leukemia Lung adenocarcinoma Glioblastoma Squamous cell carcinoma of the head and neck B-cell chronic lymphocytic leukemia Carcinoma of esophagus Multiple myeloma Uterine carcinosarcoma Hepatocellular carcinoma Gastric adenocarcinoma Pancreatic adenocarcinoma Transitional cell carcinoma of the bladder Medulloblastoma Neoplasm of ovary 7 conditions Small cell lung carcinoma Prostate adenocarcinoma Breast neoplasm Neoplasm of brain Lip and oral cavity carcinoma Neoplasm of the large intestine Malignant neoplasm of body of uterus Squamous cell carcinoma of the skin Malignant melanoma of skin Choroid plexus carcinoma Gallbladder cancer Breast and/or ovarian cancer Congenital fibrosarcoma Gastric cancer Malignant lymphoma, large B-cell, diffuse Adrenocortical carcinoma, hereditary	Reviewed By Expert Panel	CA000382	rs_121912651	30 SubmittersRCV000013140 RCV000168242 RCV000424308 RCV000115735 RCV000424415 RCV000425083 RCV000213057 RCV000434504 RCV000438698 RCV000418495 RCV000419032 RCV000419150 RCV000423184 RCV000423804 RCV000429884 RCV000431508 RCV000431689 RCV000435803 RCV000430543 RCV000444845 RCV000436398 RCV000440560 RCV000785485 RCV000735293 RCV000419857 RCV000425682 RCV000429777 RCV000433905 RCV001255674 RCV000440422 RCV000441091 RCV000441557 RCV000442243 RCV001271100 RCV001374442 RCV003149569 RCV003105772 RCV003162243 RCV003318332 RCV003460463
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)	SNV Germline/somatic	Chr17:7674220	Pathogenic	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Sarcoma Breast neoplasm Small cell lung carcinoma Neoplasm of the large intestine Multiple myeloma Medulloblastoma Uterine carcinosarcoma Myelodysplastic syndrome Malignant melanoma of skin Ovarian serous cystadenocarcinoma Neoplasm of brain Transitional cell carcinoma of the bladder B-cell chronic lymphocytic leukemia Acute myeloid leukemia Carcinoma of esophagus Hepatocellular carcinoma Pancreatic adenocarcinoma Neoplasm Glioblastoma Brainstem glioma Malignant neoplasm of body of uterus Squamous cell carcinoma of the head and neck Condition: not provided Prostate adenocarcinoma Gastric adenocarcinoma Squamous cell carcinoma of the skin Neoplasm of ovary Squamous cell lung carcinoma Lung adenocarcinoma 11 conditions Lymphoma Familial cancer of breast Ductal carcinoma in situ Breast carcinoma Colorectal cancer Lip and oral cavity carcinoma Rhabdomyosarcoma Adrenal cortex carcinoma Gastric cancer Malignant tumor of urinary bladder Adrenocortical carcinoma, hereditary	Reviewed By Expert Panel	CA000387	rs_11540652	39 SubmittersRCV000013150 RCV000115736 RCV000197114 RCV000148913 RCV000419135 RCV000420303 RCV000421893 RCV000424869 RCV000427709 RCV000432587 RCV000437935 RCV000420727 RCV000421194 RCV000426359 RCV000432778 RCV000435533 RCV000417916 RCV000437291 RCV000438410 RCV000439963 RCV000426606 RCV000445244 RCV000433424 RCV000437518 RCV000444656 RCV000235221 RCV000426233 RCV000428591 RCV000430513 RCV000785344 RCV000441226 RCV000445235 RCV000763417 RCV000790860 RCV001270275 RCV001527465 RCV001554245 RCV001789749 RCV001255671 RCV001257519 RCV003996090 RCV003162244 RCV003332079 RCV003466852
NM_000546.6(TP53):c.814G>T (p.Val272Leu)	SNV Germline/somatic	Chr17:7673806	Likely pathogenic	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Squamous cell carcinoma of the skin Medulloblastoma Multiple myeloma Li-Fraumeni syndrome Breast neoplasm Gastric adenocarcinoma Squamous cell carcinoma of the head and neck Transitional cell carcinoma of the bladder Neoplasm of the large intestine Ovarian serous cystadenocarcinoma Pancreatic adenocarcinoma Papillary renal cell carcinoma type 1 Lung adenocarcinoma Malignant neoplasm of body of uterus	Criteria Provided Multiple Submitters No Conflicts	CA000430	rs_121912657	6 SubmittersRCV000013152 RCV000164988 RCV000427077 RCV000437706 RCV000443589 RCV001221969 RCV000420507 RCV000417682 RCV000426429 RCV000428361 RCV000431193 RCV000432989 RCV000434905 RCV000437100 RCV000439021 RCV000443570
NM_000546.6(TP53):c.818G>A (p.Arg273His)	SNV Germline/somatic	Chr17:7673802	Pathogenic	Li-Fraumeni syndrome 1 Thyroid gland undifferentiated (anaplastic) carcinoma Hereditary cancer-predisposing syndrome Condition: not provided Multiple myeloma Ovarian serous cystadenocarcinoma Transitional cell carcinoma of the bladder Malignant melanoma of skin Carcinoma of esophagus Small cell lung carcinoma Squamous cell lung carcinoma Squamous cell carcinoma of the head and neck Prostate adenocarcinoma Neoplasm of brain Pancreatic adenocarcinoma B-cell chronic lymphocytic leukemia Acute myeloid leukemia Adrenal cortex carcinoma Breast neoplasm Li-Fraumeni syndrome Lung adenocarcinoma Brainstem glioma Glioblastoma Neoplasm Gastric adenocarcinoma Uterine carcinosarcoma Malignant neoplasm of body of uterus Medulloblastoma Hepatocellular carcinoma Neoplasm of the large intestine Neoplasm of ovary Malignant tumor of breast Familial cancer of breast Multiple myeloma Colorectal cancer Rhabdomyosarcoma 12 conditions Gastric cancer Breast and/or ovarian cancer Adrenocortical carcinoma, hereditary	Reviewed By Expert Panel	CA000434	rs_28934576	35 SubmittersRCV000013163 RCV000013164 RCV000115738 RCV000254693 RCV000424833 RCV000428779 RCV000429822 RCV000433409 RCV000435547 RCV000437210 RCV000418930 RCV000422097 RCV000422733 RCV000424218 RCV000439513 RCV000424109 RCV000440815 RCV000424627 RCV000443907 RCV000463420 RCV000431361 RCV000434044 RCV000436207 RCV000441169 RCV000419960 RCV000423826 RCV000430161 RCV000440474 RCV000444851 RCV000444900 RCV000785345 RCV001358389 RCV001527484 RCV001527470 RCV001257517 RCV002476955 RCV003162246 RCV003492292 RCV003466853
NM_000546.6(TP53):c.451C>A (p.Pro151Thr)	SNV Germline/somatic	Chr17:7675161	Pathogenic/Likely pathogenic	Breast adenocarcinoma Hereditary cancer-predisposing syndrome Ovarian serous cystadenocarcinoma Carcinoma of esophagus Adenoid cystic carcinoma Neoplasm of brain Breast neoplasm Lung adenocarcinoma Uterine carcinosarcoma Malignant neoplasm of body of uterus Malignant melanoma of skin Gastric adenocarcinoma Condition: not provided Neoplasm of the large intestine Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Li-Fraumeni syndrome Rhabdomyosarcoma Squamous cell lung carcinoma Multiple myeloma Transitional cell carcinoma of the bladder Pancreatic adenocarcinoma Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000198	rs_28934874	9 SubmittersRCV000013168 RCV000130617 RCV000423161 RCV000424222 RCV000428384 RCV000428836 RCV000437544 RCV000433405 RCV000435159 RCV000443817 RCV000417493 RCV000418145 RCV000520731 RCV000425139 RCV000429500 RCV000442802 RCV000691152 RCV001257524 RCV000422094 RCV000434485 RCV000439740 RCV000440812 RCV002288486 RCV004566739
NM_000546.6(TP53):c.451C>T (p.Pro151Ser)	SNV Germline/somatic	Chr17:7675161	Pathogenic/Likely pathogenic	Breast adenocarcinoma Condition: not provided Hereditary cancer-predisposing syndrome Neoplasm of the large intestine Neoplasm of brain Multiple myeloma Lung adenocarcinoma Uterine carcinosarcoma Squamous cell lung carcinoma Carcinoma of esophagus Malignant neoplasm of body of uterus Hepatocellular carcinoma Pancreatic adenocarcinoma Li-Fraumeni syndrome Malignant melanoma of skin Gastric adenocarcinoma Ovarian serous cystadenocarcinoma Adenoid cystic carcinoma Squamous cell carcinoma of the head and neck Breast neoplasm Transitional cell carcinoma of the bladder Neoplasm of ovary Rhabdomyosarcoma Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000200	rs_28934874	9 SubmittersRCV000013169 RCV000079203 RCV000219702 RCV000429847 RCV000435681 RCV000426058 RCV000427411 RCV000431507 RCV000438074 RCV000421928 RCV000422996 RCV000443020 RCV000440887 RCV000633355 RCV000420199 RCV000420869 RCV000424996 RCV000432585 RCV000433689 RCV000440140 RCV000443379 RCV000785532 RCV001257523 RCV002288487
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)	SNV Germline/somatic	Chr11:534289	Pathogenic	Costello syndrome Myopathy, congenital, with excess of muscle spindles Epidermal nevus with urothelial cancer, somatic Condition: not provided Nevus sebaceous RASopathy Breast neoplasm Transitional cell carcinoma of the bladder Myelodysplastic syndrome Adenoid cystic carcinoma Carcinoma of esophagus Uterine carcinosarcoma Thyroid tumor Papillary renal cell carcinoma, sporadic Squamous cell carcinoma of the skin Nasopharyngeal neoplasm Multiple myeloma Neoplasm of the large intestine Malignant neoplasm of body of uterus Pancreatic adenocarcinoma Neoplasm of uterine cervix Malignant melanoma of skin Lung adenocarcinoma Acute myeloid leukemia Gastric adenocarcinoma Squamous cell carcinoma of the head and neck Prostate adenocarcinoma Ovarian serous cystadenocarcinoma Glioblastoma Hepatocellular carcinoma Wooly hair nevus Rhabdomyosarcoma Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype Lip and oral cavity carcinoma See cases HRAS-related disorder Noonan syndrome 1 Epidermal nevus	Reviewed By Expert Panel	CA122549	rs_104894229	40 SubmittersRCV000013435 RCV000013436 RCV000022796 RCV000081295 RCV000029209 RCV000149828 RCV000430608 RCV000435163 RCV000440863 RCV000440993 RCV000445039 RCV000417494 RCV000425542 RCV000432342 RCV000432945 RCV000422253 RCV000440297 RCV000443940 RCV000430725 RCV000433576 RCV000438022 RCV000419709 RCV000420366 RCV000422656 RCV000423310 RCV000424896 RCV000427772 RCV000430011 RCV000432984 RCV000440237 RCV000487471 RCV001257537 RCV001813185 RCV002453256 RCV001255689 RCV003156059 RCV003398496 RCV003450635 RCV003450636
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)	SNV Germline/somatic	Chr11:534288	Pathogenic	Costello syndrome Adenoid cystic carcinoma Neoplasm of the large intestine Papillary renal cell carcinoma, sporadic Malignant melanoma of skin Squamous cell carcinoma of the skin Malignant neoplasm of body of uterus Ovarian serous cystadenocarcinoma Condition: not provided Glioblastoma Transitional cell carcinoma of the bladder Gastric adenocarcinoma Nasopharyngeal neoplasm Neoplasm of uterine cervix Multiple myeloma Hepatocellular carcinoma Pancreatic adenocarcinoma Thyroid tumor Prostate adenocarcinoma Carcinoma of esophagus Uterine carcinosarcoma Inborn genetic diseases Squamous cell carcinoma of the head and neck 6 conditions Breast neoplasm Acute myeloid leukemia Myelodysplastic syndrome Lung adenocarcinoma Noonan syndrome and Noonan-related syndrome Rhabdomyosarcoma	Criteria Provided Multiple Submitters No Conflicts	CA256486	rs_104894230	10 SubmittersRCV000013437 RCV000418547 RCV000422263 RCV000430806 RCV000417508 RCV000435619 RCV000423413 RCV000423622 RCV000207503 RCV000440663 RCV000425989 RCV000426130 RCV000428375 RCV000441501 RCV000444092 RCV000433266 RCV000445257 RCV000428172 RCV000433587 RCV000423741 RCV000425511 RCV000623953 RCV000432956 RCV000762848 RCV000435805 RCV000436832 RCV000442448 RCV000445090 RCV001813186 RCV001257536
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)	SNV Germline/somatic	Chr11:534286	Pathogenic	Costello syndrome RASopathy Breast neoplasm Pancreatic adenocarcinoma Condition: not provided Acute myeloid leukemia Neoplasm of the large intestine Neoplasm of uterine cervix Squamous cell carcinoma of the head and neck Multiple myeloma Malignant melanoma of skin Gastric adenocarcinoma Lung adenocarcinoma Neoplasm Thyroid tumor Hepatocellular carcinoma Squamous cell lung carcinoma B-cell chronic lymphocytic leukemia Transitional cell carcinoma of the bladder Malignant neoplasm of body of uterus Squamous cell carcinoma of the skin 6 conditions Noonan syndrome Noonan syndrome and Noonan-related syndrome HRAS-related disorder	Reviewed By Expert Panel	CA295247	rs_104894228	17 SubmittersRCV000013440 RCV000149831 RCV000424247 RCV000425964 RCV000207504 RCV000433893 RCV000444110 RCV000445225 RCV000423190 RCV000417661 RCV000426653 RCV000439052 RCV000420958 RCV000439954 RCV000428812 RCV000445336 RCV000431688 RCV000434069 RCV000436007 RCV000436205 RCV000441514 RCV000762847 RCV000678903 RCV001813188 RCV003421918
NM_005343.4(HRAS):c.436G>A (p.Ala146Thr)	SNV Germline/somatic	Chr11:533467	Pathogenic/Likely pathogenic	Costello syndrome Multiple myeloma Neoplasm of the large intestine Gastric adenocarcinoma Acute myeloid leukemia Neoplasm of uterine cervix Lung adenocarcinoma	No Assertion Criteria Provided	CA256492	rs_104894231	2 SubmittersRCV000013441 RCV000420974 RCV000432069 RCV000427320 RCV000434059 RCV000438623 RCV000444836
NM_005343.4(HRAS):c.437C>T (p.Ala146Val)	SNV Germline/somatic	Chr11:533466	Likely pathogenic	Costello syndrome Neoplasm of the large intestine Acute myeloid leukemia Gastric adenocarcinoma Neoplasm of uterine cervix Lung adenocarcinoma Multiple myeloma	Criteria Provided Multiple Submitters No Conflicts	CA256494	rs_121917759	4 SubmittersRCV000013445 RCV000419902 RCV000436710 RCV000427529 RCV000436017 RCV000444744 RCV000426668
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)	SNV Germline/somatic	Chr11:534289	Pathogenic	Costello syndrome Nevus sebaceous Epidermal nevus RASopathy Condition: not provided Myelodysplastic syndrome Neoplasm of the large intestine Lung adenocarcinoma Malignant melanoma of skin Thyroid tumor Ovarian serous cystadenocarcinoma Glioblastoma Squamous cell carcinoma of the skin Acute myeloid leukemia Carcinoma of esophagus Neoplasm of uterine cervix Uterine carcinosarcoma Urinary bladder carcinoma Prostate adenocarcinoma Adenoid cystic carcinoma Pancreatic adenocarcinoma Transitional cell carcinoma of the bladder Nasopharyngeal neoplasm Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Breast neoplasm Papillary renal cell carcinoma, sporadic Gastric adenocarcinoma Multiple myeloma Malignant neoplasm of body of uterus 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA129948	rs_104894229	13 SubmittersRCV000013447 RCV000029211 RCV000032851 RCV000149829 RCV000212495 RCV000419553 RCV000421701 RCV000426992 RCV000429404 RCV000429096 RCV000431602 RCV000434677 RCV000422023 RCV000424380 RCV000436802 RCV000438707 RCV000437868 RCV000440052 RCV000443678 RCV000443826 RCV000444512 RCV000445233 RCV000431815 RCV000438902 RCV000418395 RCV000424087 RCV000427213 RCV000428012 RCV000436505 RCV000439243 RCV000762849
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys)	SNV Germline/somatic	Chr12:112450406	Conflicting classifications of pathogenicity	Juvenile myelomonocytic leukemia RASopathy Noonan syndrome Condition: not provided Squamous cell lung carcinoma Neuroblastoma Astrocytoma Multiple myeloma Neoplasm of the large intestine Malignant neoplastic disease PTPN11-related disorder	Criteria Provided Conflicting Classifications	CA123038	rs_121918464	11 SubmittersRCV000014264 RCV000033476 RCV000156974 RCV000212892 RCV000433549 RCV000422541 RCV000432364 RCV000422851 RCV000439757 RCV001254876 RCV004545728
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly)	SNV Germline/somatic	Chr12:112450407	Conflicting classifications of pathogenicity	Juvenile myelomonocytic leukemia Condition: not provided Astrocytoma Neuroblastoma Neoplasm of the large intestine Squamous cell lung carcinoma Multiple myeloma RASopathy	Criteria Provided Conflicting Classifications	CA123044	rs_121918465	6 SubmittersRCV000014266 RCV000159046 RCV000420699 RCV000437713 RCV000419574 RCV000427060 RCV000437931 RCV002513040
NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala)	SNV Germline/somatic	Chr12:112450407	Pathogenic	Juvenile myelomonocytic leukemia Condition: not provided Astrocytoma Neuroblastoma Neoplasm of the large intestine Squamous cell lung carcinoma Multiple myeloma	Criteria Provided Single Submitter	CA123047	rs_121918465	3 SubmittersRCV000014267 RCV000033477 RCV000424761 RCV000424995 RCV000432192 RCV000443046 RCV000444034
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg)	SNV Germline/somatic	Chr1:114716124	Likely pathogenic	Carcinoma of colon Large congenital melanocytic nevus Medulloblastoma Transitional cell carcinoma of the bladder Gastric adenocarcinoma Melanoma Multiple myeloma Myelodysplastic syndrome Non-Hodgkin lymphoma Acute myeloid leukemia Neoplasm of the large intestine Malignant melanoma of skin Noonan syndrome 6	Criteria Provided Single Submitter	CA151261	rs_121434595	4 SubmittersRCV000014913 RCV000114743 RCV000419545 RCV000419583 RCV000427817 RCV000424942 RCV000426328 RCV000428963 RCV000437450 RCV000438070 RCV000434327 RCV000444449 RCV001781267
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)	SNV Germline/somatic	Chr1:114713908	Conflicting classifications of pathogenicity	Thyroid cancer, nonmedullary, 2 Epidermal nevus Large congenital melanocytic nevus Neurocutaneous melanocytosis Non-small cell lung carcinoma Neoplasm of brain Lung adenocarcinoma Linear nevus sebaceous syndrome Hepatocellular carcinoma B-cell chronic lymphocytic leukemia Melanoma Acute myeloid leukemia Gastric adenocarcinoma Papillary renal cell carcinoma type 1 Multiple myeloma Condition: not provided Adrenal cortex carcinoma Ovarian serous cystadenocarcinoma Malignant melanoma of skin Nasopharyngeal neoplasm Neoplasm of the large intestine Glioblastoma Transitional cell carcinoma of the bladder Malignant neoplasm of body of uterus Noonan syndrome 6	Criteria Provided Conflicting Classifications	CA123618	rs_11554290	9 SubmittersRCV000014914 RCV000032847 RCV000114744 RCV000114745 RCV000037574 RCV000424455 RCV000424721 RCV000148032 RCV000432961 RCV000420832 RCV000424960 RCV000441317 RCV000439264 RCV000419710 RCV000431883 RCV000413804 RCV000422078 RCV000422278 RCV000430407 RCV000430593 RCV000435687 RCV000438052 RCV000440367 RCV000445249 RCV003992155
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)	SNV Germline/somatic	Chr1:114716123	Pathogenic/Likely pathogenic	Juvenile myelomonocytic leukemia Noonan syndrome 6 Autoimmune lymphoproliferative syndrome type 4 Condition: not provided Myelodysplastic syndrome Gastric adenocarcinoma Multiple myeloma Medulloblastoma Neoplasm of the large intestine Acute myeloid leukemia Transitional cell carcinoma of the bladder Malignant melanoma of skin Melanoma Non-Hodgkin lymphoma Acute megakaryoblastic leukemia in down syndrome	Criteria Provided Multiple Submitters No Conflicts	CA123620	rs_121434596	6 SubmittersRCV000014915 RCV000022690 RCV000144962 RCV000157672 RCV000431528 RCV000430350 RCV000433031 RCV000421906 RCV000440593 RCV000440357 RCV000421229 RCV000422699 RCV000431020 RCV000442419 RCV001293767
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)	SNV Germline/somatic	Chr7:140753336	Pathogenic/Likely pathogenic	Carcinoma of colon Papillary thyroid carcinoma Astrocytoma, low-grade, somatic Nongerminomatous germ cell tumor Condition: not provided Non-small cell lung carcinoma Melanoma Cardio-facio-cutaneous syndrome Glioblastoma Neoplasm of the large intestine Colonic neoplasm Lung adenocarcinoma Malignant melanoma of skin Brainstem glioma Squamous cell carcinoma of the head and neck Multiple myeloma Papillary renal cell carcinoma, sporadic Lung carcinoma Neoplasm of ovary Neoplasm of brain Gastrointestinal stromal tumor Neoplasm Cystic epithelial invagination containing papillae lined by columnar epithelium Cerebral arteriovenous malformation Nephroblastoma Colorectal cancer Malignant neoplastic disease Lymphangioma Vascular malformation Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA123643	rs_113488022	18 SubmittersRCV000014992 RCV000014993 RCV000014994 RCV000022677 RCV000080903 RCV000037936 RCV000067669 RCV000208763 RCV000425847 RCV000443745 RCV000420614 RCV000429915 RCV000417746 RCV000425166 RCV000424470 RCV000430562 RCV000440802 RCV000433305 RCV000432628 RCV000435441 RCV000440540 RCV000443448 RCV000662278 RCV000860020 RCV001248834 RCV001030023 RCV001254874 RCV002051586 RCV003458334 RCV004018627
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val)	SNV Somatic	Chr7:140781611	Pathogenic/Likely pathogenic	Lung adenocarcinoma Non-small cell lung carcinoma Multiple myeloma Malignant melanoma of skin Neoplasm of the large intestine Lung carcinoma Squamous cell lung carcinoma Squamous cell carcinoma of the head and neck	No Assertion Criteria Provided	CA123647	rs_121913351	3 SubmittersRCV000015001 RCV000037916 RCV000421693 RCV000424032 RCV000429151 RCV000436576 RCV000438953 RCV000438708
NM_004333.6(BRAF):c.1790T>G (p.Leu597Arg)	SNV Somatic	Chr7:140753345	Pathogenic/Likely pathogenic	Lung adenocarcinoma Prostate adenocarcinoma Malignant melanoma of skin Neoplasm of ovary Melanoma Multiple myeloma	No Assertion Criteria Provided	CA123649	rs_121913366	2 SubmittersRCV000015002 RCV000421201 RCV000421775 RCV000444137 RCV000439504 RCV000432024
NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg)	SNV Germline/somatic	Chr7:140781603	Pathogenic/Likely pathogenic	Non-Hodgkin lymphoma Condition: not provided Neoplasm of the large intestine Squamous cell carcinoma of the skin Melanoma Malignant melanoma of skin Transitional cell carcinoma of the bladder Multiple myeloma Lung adenocarcinoma Prostate adenocarcinoma Squamous cell lung carcinoma Cardio-facio-cutaneous syndrome	Criteria Provided Multiple Submitters No Conflicts	CA123653	rs_121913357	4 SubmittersRCV000015004 RCV000033306 RCV000421772 RCV000422506 RCV000423124 RCV000428425 RCV000428973 RCV000433203 RCV000439657 RCV000439076 RCV000441999 RCV001778653
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala)	SNV Somatic	Chr7:140781602	Pathogenic	Non-Hodgkin lymphoma Non-small cell lung carcinoma Neoplasm of the large intestine Squamous cell carcinoma of the skin Neoplasm Lung adenocarcinoma Malignant melanoma of skin Squamous cell lung carcinoma Prostate adenocarcinoma Multiple myeloma Lung carcinoma Transitional cell carcinoma of the bladder	Criteria Provided Single Submitter	CA123655	rs_121913355	3 SubmittersRCV000015005 RCV000150210 RCV000419278 RCV000422572 RCV000421485 RCV000430006 RCV000432193 RCV000432393 RCV000439564 RCV000444131 RCV000440864 RCV000439801
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly)	SNV Germline/somatic	Chr7:140753354	Conflicting classifications of pathogenicity	Non-Hodgkin lymphoma Non-small cell lung carcinoma B-cell chronic lymphocytic leukemia Malignant melanoma of skin Lung adenocarcinoma Adrenal cortex carcinoma Transitional cell carcinoma of the bladder Melanoma Squamous cell carcinoma of the head and neck Neoplasm of brain Neoplasm of the large intestine RASopathy Multiple myeloma	Criteria Provided Conflicting Classifications	CA123657	rs_121913338	5 SubmittersRCV000015006 RCV000037932 RCV000418680 RCV000423919 RCV000426107 RCV000433779 RCV000437006 RCV000426339 RCV000435875 RCV000443065 RCV000443882 RCV001238853 RCV000442759
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)	SNV Germline/somatic	Chr7:140781602	Pathogenic	Cardiofaciocutaneous syndrome 1 RASopathy Condition: not provided Cardio-facio-cutaneous syndrome Squamous cell lung carcinoma Melanoma Malignant melanoma of skin Transitional cell carcinoma of the bladder Squamous cell carcinoma of the skin Neoplasm of the large intestine Prostate adenocarcinoma Lung adenocarcinoma Multiple myeloma not specified Noonan syndrome and Noonan-related syndrome Noonan syndrome 7 Noonan syndrome 1	Reviewed By Expert Panel	CA279970	rs_121913355	18 SubmittersRCV000015008 RCV000033307 RCV000212152 RCV000211748 RCV000427006 RCV000427215 RCV000419555 RCV000419576 RCV000437869 RCV000424773 RCV000434590 RCV000436804 RCV000443381 RCV000506575 RCV001813209 RCV002287336 RCV003450641
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln)	SNV Germline/somatic	Chr15:90088702	Pathogenic/Likely pathogenic	D-2-hydroxyglutaric aciduria 2 Acute myeloid leukemia Myelodysplastic syndrome Neoplasm of the large intestine Condition: not provided Squamous cell carcinoma of the head and neck Multiple myeloma Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA124277	rs_121913502	10 SubmittersRCV000015831 RCV000419192 RCV000431189 RCV000430530 RCV000292094 RCV000420290 RCV000441454 RCV002513067
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu)	SNV Germline/somatic	Chr4:1806162	Pathogenic	Spermatocytic seminoma Multiple myeloma Thanatophoric dysplasia, type 2 Condition: not provided Carcinoma Thanatophoric dysplasia type 1 Thanatophoric dysplasia See cases FGFR3-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA126376	rs_78311289	18 SubmittersRCV000017730 RCV000017729 RCV000017728 RCV000255799 RCV000433411 RCV003234912 RCV003317039 RCV003155029 RCV004532376
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)	SNV Germline/somatic	Chr4:1801837	Pathogenic	Multiple myeloma Thanatophoric dysplasia type 1 Skeletal dysplasia with acanthosis nigricans Epidermal nevus Seborrheic keratosis Transitional cell carcinoma of the bladder Condition: not provided Squamous cell lung carcinoma Squamous cell carcinoma of the head and neck Lung adenocarcinoma 13 conditions Carcinoma 14 conditions Cervical cancer Hamartoma FGFR3-related chondrodysplasia Achondroplasia FGFR3-related disorder Connective tissue disorder See cases Malignant tumor of urinary bladder Thanatophoric dysplasia, type 2	Criteria Provided Multiple Submitters No Conflicts	CA126378	rs_121913482	38 SubmittersRCV000017732 RCV000017731 RCV000017733 RCV000017734 RCV000017735 RCV000425802 RCV000327823 RCV000432622 RCV000443913 RCV000420041 RCV000414822 RCV000425165 RCV000763118 RCV001196297 RCV001526641 RCV001849270 RCV001804739 RCV002243648 RCV002276552 RCV003155030 RCV003332082 RCV003388567
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg)	SNV Germline/somatic	Chr11:534286	Pathogenic/Likely pathogenic	Linear nevus sebaceous syndrome Nevus sebaceous Epidermal nevus SPITZ NEVUS, SOMATIC NEVUS SPILUS, SOMATIC Malignant neoplasm of body of uterus Pancreatic adenocarcinoma Malignant melanoma of skin Transitional cell carcinoma of the bladder Multiple myeloma Thyroid tumor B-cell chronic lymphocytic leukemia Neoplasm of the large intestine Breast neoplasm Acute myeloid leukemia Gastric adenocarcinoma Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma Hepatocellular carcinoma Squamous cell carcinoma of the skin Lung adenocarcinoma Neoplasm of uterine cervix Costello syndrome Noonan syndrome and Noonan-related syndrome Lip and oral cavity carcinoma Non-immune hydrops fetalis cutaneous-skeletal hypophosphatemia syndrome Epidermolytic nevus	Criteria Provided Multiple Submitters No Conflicts	CA129950	rs_104894228	10 SubmittersRCV000029213 RCV000029212 RCV000032852 RCV000173006 RCV000173005 RCV000422625 RCV000427669 RCV000430227 RCV000437649 RCV000443949 RCV000418725 RCV000420422 RCV000420481 RCV000432361 RCV000439826 RCV000424371 RCV000431824 RCV000419344 RCV000430065 RCV000435072 RCV000439525 RCV000440902 RCV001781319 RCV001813211 RCV001255682 RCV001376004 RCV001849283 RCV003458340
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)	SNV Germline/somatic	Chr1:114716126	Pathogenic/Likely pathogenic	Epidermal nevus Juvenile myelomonocytic leukemia Condition: not provided Non-small cell lung carcinoma Malignant melanoma of skin Myelodysplastic syndrome Neoplasm of the large intestine Gastric adenocarcinoma Malignant neoplasm of body of uterus Multiple myeloma Melanoma Acute myeloid leukemia NRAS-related disorder Cardiovascular phenotype RASopathy Noonan syndrome 6 Noonan syndrome and Noonan-related syndrome Autoimmune lymphoproliferative syndrome type 4	Criteria Provided Multiple Submitters No Conflicts	CA130425	rs_121913237	10 SubmittersRCV000032849 RCV000144963 RCV000158980 RCV000439064 RCV000440963 RCV000424239 RCV000427949 RCV000434517 RCV000430706 RCV000417702 RCV000417869 RCV000436228 RCV003415756 RCV004018703 RCV001852659 RCV001781333 RCV001813214 RCV003221788
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val)	SNV Germline/somatic	Chr7:140753348	Pathogenic	RASopathy Condition: not provided Cardio-facio-cutaneous syndrome Multiple myeloma Lung adenocarcinoma Glioblastoma Transitional cell carcinoma of the bladder Noonan syndrome Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 1 Inborn genetic diseases	Reviewed By Expert Panel	CA220161	rs_397507483	12 SubmittersRCV000033332 RCV000077865 RCV000208758 RCV000424067 RCV000441123 RCV000431311 RCV000438697 RCV000844615 RCV000856749 RCV001265809
NM_002524.5(NRAS):c.34G>T (p.Gly12Cys)	SNV Germline/somatic	Chr1:114716127	Pathogenic	Condition: not provided Malignant neoplasm of body of uterus Neoplasm of the large intestine Multiple myeloma Acute myeloid leukemia Non-small cell lung carcinoma Malignant melanoma of skin Melanoma Gastric adenocarcinoma Myelodysplastic syndrome Chronic myelogenous leukemia, BCR-ABL1 positive	Criteria Provided Single Submitter	CA297020	rs_121913250	3 SubmittersRCV000158979 RCV000422059 RCV000422738 RCV000425805 RCV000433830 RCV000440380 RCV000435186 RCV000444830 RCV000432311 RCV000445013 RCV002291497
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg)	SNV Germline/somatic	Chr1:114716127	Pathogenic	Condition: not provided Multiple myeloma Acute myeloid leukemia Chronic myelogenous leukemia, BCR-ABL1 positive Neoplasm of the large intestine Non-small cell lung carcinoma Malignant melanoma of skin Malignant neoplasm of body of uterus Myelodysplastic syndrome Gastric adenocarcinoma Melanoma Noonan syndrome 6 Increased nuchal translucency	Criteria Provided Multiple Submitters No Conflicts	CA297030	rs_121913250	6 SubmittersRCV000158985 RCV000420396 RCV000423088 RCV000430635 RCV000435447 RCV000425150 RCV000430032 RCV000438291 RCV000440262 RCV000420637 RCV000444217 RCV001781335 RCV001526619
NM_002524.5(NRAS):c.35G>T (p.Gly12Val)	SNV Germline/somatic	Chr1:114716126	Pathogenic/Likely pathogenic	Noonan syndrome Condition: not provided Gastric adenocarcinoma Myelodysplastic syndrome Melanoma Acute myeloid leukemia Malignant melanoma of skin Malignant neoplasm of body of uterus Neoplasm of the large intestine Multiple myeloma RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA261525	rs_121913237	6 SubmittersRCV000037576 RCV000158986 RCV000423890 RCV000432178 RCV000419124 RCV000429393 RCV000438750 RCV000438967 RCV000439421 RCV000421072 RCV001377735
NM_002834.5(PTPN11):c.1508G>T (p.Gly503Val)	SNV Somatic	Chr12:112489084	Likely pathogenic; other	Squamous cell lung carcinoma Lung adenocarcinoma Multiple myeloma Neoplasm of the large intestine Gastric adenocarcinoma Embryonal rhabdomyosarcoma	No Assertion Criteria Provided	CA282129	rs_397507546	2 SubmittersRCV000419381 RCV000430281 RCV000429259 RCV000439943 RCV000440091 RCV000505671
NM_004333.6(BRAF):c.1406G>T (p.Gly469Val)	SNV Somatic	Chr7:140781602	Pathogenic	Non-small cell lung carcinoma Prostate adenocarcinoma Squamous cell carcinoma of the skin Multiple myeloma Lung adenocarcinoma Neoplasm of the large intestine Squamous cell lung carcinoma Neoplasm Transitional cell carcinoma of the bladder Malignant melanoma of skin	Criteria Provided Single Submitter	CA135085	rs_121913355	2 SubmittersRCV000037919 RCV000425868 RCV000436583 RCV000418480 RCV000427987 RCV000420102 RCV000445054 RCV000430773 RCV000435417 RCV000436805
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn)	SNV Germline/somatic	Chr7:140753355	Likely pathogenic	Non-small cell lung carcinoma Transitional cell carcinoma of the bladder Neoplasm of the large intestine Malignant melanoma of skin Multiple myeloma Melanoma Lung adenocarcinoma B-cell chronic lymphocytic leukemia Neoplasm of brain Squamous cell carcinoma of the head and neck Adrenal cortex carcinoma Prostate cancer, hereditary, 1	Criteria Provided Single Submitter	CA135095	rs_397516896	4 SubmittersRCV000037931 RCV000417722 RCV000425110 RCV000432782 RCV000432575 RCV000440132 RCV000443573 RCV000422928 RCV000425325 RCV000434944 RCV000444338 RCV002291550
NM_004985.5(KRAS):c.182A>T (p.Gln61Leu)	SNV Somatic	Chr12:25227342	Pathogenic	Non-small cell lung carcinoma Medullary thyroid carcinoma Thyroid tumor Neoplasm of the large intestine Multiple myeloma	Criteria Provided Single Submitter	CA210876	rs_121913240	4 SubmittersRCV000038258 RCV000202407 RCV000437806 RCV000443593 RCV000984128
NM_004985.5(KRAS):c.183A>T (p.Gln61His)	SNV Somatic	Chr12:25227341	Pathogenic/Likely pathogenic	Non-small cell lung carcinoma Neoplasm of the large intestine Malignant melanoma of skin Thyroid tumor Malignant neoplasm of body of uterus Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma B-cell chronic lymphocytic leukemia Transitional cell carcinoma of the bladder Pancreatic adenocarcinoma Squamous cell lung carcinoma Multiple myeloma Acute myeloid leukemia Cerebral arteriovenous malformation	No Assertion Criteria Provided	CA135552	rs_17851045	3 SubmittersRCV000038259 RCV000417543 RCV000421965 RCV000423952 RCV000430651 RCV000433564 RCV000441804 RCV000420404 RCV000433108 RCV000440092 RCV000445124 RCV000423293 RCV000429878 RCV000435442 RCV003445113
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala)	SNV Germline/somatic	Chr12:25245350	Likely pathogenic	Non-small cell lung carcinoma Lung adenocarcinoma Gastrointestinal stromal tumor Neoplasm of the large intestine Neoplasm of ovary Multiple myeloma Condition: not provided Gallbladder cancer Lung cancer KRAS-related disorder	Criteria Provided Single Submitter	CA135567	rs_121913529	7 SubmittersRCV000038266 RCV000423968 RCV000441134 RCV000434342 RCV000443636 RCV000984117 RCV001355876 RCV001374446 RCV003996396 RCV004549454
NM_004333.6(BRAF):c.1741A>C (p.Asn581His)	SNV Germline/somatic	Chr7:140754187	Conflicting classifications of pathogenicity	Multiple myeloma Malignant melanoma of skin Papillary renal cell carcinoma, sporadic Ovarian serous cystadenocarcinoma Lung adenocarcinoma Neoplasm of the large intestine RASopathy BRAF-related disorder	Criteria Provided Conflicting Classifications	CA284657	rs_180177040	3 SubmittersRCV000422257 RCV000439352 RCV000425037 RCV000433029 RCV000431645 RCV000441971 RCV001363294 RCV003390750
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys)	SNV Germline/somatic	Chr1:114713909	Conflicting classifications of pathogenicity	Large congenital melanocytic nevus Neurocutaneous melanocytosis Non-small cell lung carcinoma Nasopharyngeal neoplasm Glioblastoma Transitional cell carcinoma of the bladder Malignant neoplasm of body of uterus Malignant melanoma of skin Ovarian serous cystadenocarcinoma Neuroblastoma Multiple myeloma Papillary renal cell carcinoma type 1 Lung adenocarcinoma Gastric adenocarcinoma Neoplasm of the large intestine Vascular Tumors Including Pyogenic Granuloma Ras Inhibitor response RASopathy Condition: not provided B-cell chronic lymphocytic leukemia Acute myeloid leukemia Adrenal cortex carcinoma Melanoma Neoplasm of brain Hepatocellular carcinoma	Criteria Provided Conflicting Classifications	CA151263	rs_121913254	7 SubmittersRCV000114746 RCV000144964 RCV000425440 RCV000426976 RCV000428264 RCV000428499 RCV000436588 RCV000436806 RCV000443974 RCV000423656 RCV000444882 RCV000423012 RCV000433274 RCV000441348 RCV000444538 RCV000662267 RCV000626456 RCV000696329 RCV001092890 RCV000418269 RCV000418907 RCV000431313 RCV000434388 RCV000435041 RCV000441559
NM_004333.6(BRAF):c.1790T>A (p.Leu597Gln)	SNV Somatic	Chr7:140753345	Pathogenic/Likely pathogenic	Melanoma Multiple myeloma Malignant melanoma of skin Prostate adenocarcinoma	No Assertion Criteria Provided	CA16602257	rs_121913366	1 SubmittersRCV000431444 RCV000443326 RCV000427485 RCV000437736
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr)	SNV Germline/somatic	Chr17:7675190	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Pancreatic adenocarcinoma Breast neoplasm Neoplasm of brain Multiple myeloma Squamous cell lung carcinoma Malignant neoplasm of body of uterus Lung adenocarcinoma Prostate adenocarcinoma Acute myeloid leukemia Squamous cell carcinoma of the head and neck Papillary renal cell carcinoma type 1 Neoplasm of the large intestine Li-Fraumeni syndrome Neoplasm of ovary Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000174	rs_587781288	7 SubmittersRCV000128975 RCV000418811 RCV000427674 RCV000437920 RCV000439333 RCV000427068 RCV000428004 RCV000429076 RCV000444430 RCV000436530 RCV000417795 RCV000423419 RCV000435449 RCV000472876 RCV000785510 RCV001582600 RCV002288619
NM_000546.6(TP53):c.842A>G (p.Asp281Gly)	SNV Germline/somatic	Chr17:7673778	Pathogenic	Hereditary cancer-predisposing syndrome Neuroblastoma Squamous cell carcinoma of the head and neck Transitional cell carcinoma of the bladder Glioblastoma Squamous cell carcinoma of the skin Breast neoplasm Malignant neoplasm of body of uterus Squamous cell lung carcinoma Papillary renal cell carcinoma type 1 Multiple myeloma Lung adenocarcinoma B-cell chronic lymphocytic leukemia Uterine carcinosarcoma Pancreatic adenocarcinoma Hepatocellular carcinoma Gastric adenocarcinoma Malignant melanoma of skin Ovarian serous cystadenocarcinoma Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA000450	rs_587781525	7 SubmittersRCV000129516 RCV000425885 RCV000426980 RCV000428043 RCV000434395 RCV000435472 RCV000436592 RCV000418481 RCV000423760 RCV000431187 RCV000423959 RCV000433596 RCV000441016 RCV000442068 RCV000438583 RCV000442813 RCV000418257 RCV000429146 RCV000436807 RCV000633367 RCV002288626 RCV003237737
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 SubmittersRCV000144504 RCV000423229 RCV000427239 RCV000431117 RCV000442517 RCV000445280 RCV000419255 RCV000421389 RCV000423408 RCV000433068 RCV000439554 RCV000441845 RCV000420454 RCV000422344 RCV000432047 RCV000440637 RCV000428884 RCV000429987 RCV001269510 RCV000853347 RCV001542733 RCV002227447 RCV003387509
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser)	SNV Germline/somatic	Chr1:114716127	Pathogenic	Juvenile myelomonocytic leukemia Noonan syndrome Condition: not provided Gastric adenocarcinoma Melanoma Multiple myeloma Non-small cell lung carcinoma Myelodysplastic syndrome Malignant melanoma of skin Malignant neoplasm of body of uterus Neoplasm of the large intestine Acute myeloid leukemia RASopathy Noonan syndrome and Noonan-related syndrome Noonan syndrome 6	Criteria Provided Multiple Submitters No Conflicts	CA180753	rs_121913250	7 SubmittersRCV000158978 RCV000212761 RCV000442594 RCV000431995 RCV000433097 RCV000421327 RCV000430288 RCV000421993 RCV000427184 RCV000439216 RCV000445150 RCV001066799 RCV001813397 RCV003998247
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser)	SNV Somatic	Chr7:140753393	Likely pathogenic	Non-small cell lung carcinoma Neoplasm of the large intestine Melanoma Lung adenocarcinoma Multiple myeloma Chronic myelogenous leukemia, BCR-ABL1 positive Malignant melanoma of skin Ovarian serous cystadenocarcinoma Papillary renal cell carcinoma, sporadic	Criteria Provided Single Submitter	CA180747	rs_121913370	3 SubmittersRCV000154399 RCV000419529 RCV000421956 RCV000430462 RCV000438933 RCV000440055 RCV000429356 RCV000432607 RCV000440277
NM_005343.4(HRAS):c.38G>T (p.Gly13Val)	SNV Germline/somatic	Chr11:534285	Pathogenic/Likely pathogenic	Condition: not provided Gastric adenocarcinoma Malignant melanoma of skin Malignant neoplasm of body of uterus Acute myeloid leukemia Lung adenocarcinoma Pancreatic adenocarcinoma Neoplasm of the large intestine Multiple myeloma B-cell chronic lymphocytic leukemia Hepatocellular carcinoma Squamous cell lung carcinoma Transitional cell carcinoma of the bladder Squamous cell carcinoma of the skin Squamous cell carcinoma of the head and neck Neoplasm of uterine cervix Thymoma Breast neoplasm Costello syndrome Lip and oral cavity carcinoma KA-like vemurafenib-induced squamous lesions Large congenital melanocytic nevus	Criteria Provided Multiple Submitters No Conflicts	CA296055	rs_104894226	8 SubmittersRCV000157914 RCV000428389 RCV000432148 RCV000437080 RCV000427265 RCV000419846 RCV000421468 RCV000424767 RCV000426169 RCV000418565 RCV000418712 RCV000429433 RCV000439230 RCV000434580 RCV000436822 RCV000444587 RCV000442670 RCV000444507 RCV000590121 RCV001255688 RCV001849323 RCV004562310
NM_000546.6(TP53):c.842A>T (p.Asp281Val)	SNV Germline/somatic	Chr17:7673778	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Uterine carcinosarcoma Squamous cell carcinoma of the skin Pancreatic adenocarcinoma Papillary renal cell carcinoma type 1 Multiple myeloma Squamous cell carcinoma of the head and neck Breast neoplasm Malignant neoplasm of body of uterus Squamous cell lung carcinoma B-cell chronic lymphocytic leukemia Ovarian serous cystadenocarcinoma Transitional cell carcinoma of the bladder Glioblastoma Lung adenocarcinoma Malignant melanoma of skin Gastric adenocarcinoma Hepatocellular carcinoma Neuroblastoma Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000452	rs_587781525	5 SubmittersRCV000161072 RCV000215048 RCV000418100 RCV000428503 RCV000426125 RCV000434194 RCV000432892 RCV000435682 RCV000435739 RCV000440916 RCV000442104 RCV000417569 RCV000423186 RCV000425401 RCV000423894 RCV000431328 RCV000433464 RCV000438736 RCV000443096 RCV000441595 RCV000799325 RCV002288706
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr)	SNV Germline/somatic	Chr17:7674250	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Hepatocellular carcinoma Lung adenocarcinoma Gastric adenocarcinoma Neoplasm of brain B-cell chronic lymphocytic leukemia Multiple myeloma Ovarian serous cystadenocarcinoma Glioblastoma Neoplasm of uterine cervix Uterine carcinosarcoma Pancreatic adenocarcinoma Carcinoma of esophagus Transitional cell carcinoma of the bladder Breast neoplasm Malignant neoplasm of body of uterus Neoplasm of the large intestine Squamous cell carcinoma of the head and neck Neoplasm of ovary Gallbladder cancer Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000351	rs_730882005	10 SubmittersRCV000161034 RCV000167907 RCV000235220 RCV000418002 RCV000420202 RCV000427976 RCV000426733 RCV000429110 RCV000439129 RCV000442204 RCV000433120 RCV000442285 RCV000436794 RCV000438032 RCV000417749 RCV000421991 RCV000426546 RCV000431283 RCV000437851 RCV000444562 RCV000785261 RCV001374444 RCV002288693 RCV003462109
NM_000546.6(TP53):c.814G>A (p.Val272Met)	SNV Germline/somatic	Chr17:7673806	Pathogenic	Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1 Transitional cell carcinoma of the bladder Squamous cell carcinoma of the skin Squamous cell carcinoma of the head and neck Lung adenocarcinoma Medulloblastoma Malignant neoplasm of body of uterus Neoplasm of the large intestine Breast neoplasm Li-Fraumeni syndrome Pancreatic adenocarcinoma Ovarian serous cystadenocarcinoma Gastric adenocarcinoma Multiple myeloma Neoplasm of ovary Li-Fraumeni syndrome 1 Condition: not provided	Reviewed By Expert Panel	CA000427	rs_121912657	8 SubmittersRCV000165304 RCV000418746 RCV000425268 RCV000426406 RCV000432177 RCV000436402 RCV000436602 RCV000434621 RCV000443071 RCV000443052 RCV000457645 RCV000424351 RCV000424542 RCV000434295 RCV000441086 RCV000785341 RCV001527085 RCV002243833
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)	SNV Germline/somatic	Chr17:7673796	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Condition: not provided Malignant melanoma of skin Hepatocellular carcinoma Breast neoplasm Transitional cell carcinoma of the bladder B-cell chronic lymphocytic leukemia Adrenal cortex carcinoma Glioblastoma Multiple myeloma Neoplasm of brain Ovarian serous cystadenocarcinoma Pancreatic adenocarcinoma Squamous cell carcinoma of the head and neck Papillary renal cell carcinoma type 1 Lung adenocarcinoma Neoplasm of the large intestine Carcinoma of esophagus Hereditary cancer-predisposing syndrome Neoplasm of ovary Breast carcinoma Li-Fraumeni syndrome 1 Acute myeloid leukemia Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA337141	rs_863224451	13 SubmittersRCV000197359 RCV000235315 RCV000418175 RCV000424784 RCV000433358 RCV000427629 RCV000439892 RCV000442357 RCV000443293 RCV000422025 RCV000422663 RCV000439245 RCV000423497 RCV000429197 RCV000434190 RCV000435410 RCV000438333 RCV000442329 RCV000568594 RCV000785533 RCV001610519 RCV002288809 RCV003320135 RCV003468892
NM_000546.6(TP53):c.584T>C (p.Ile195Thr)	SNV Germline/somatic	Chr17:7674947	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome Lung adenocarcinoma Acute myeloid leukemia Squamous cell lung carcinoma Hepatocellular carcinoma Ovarian serous cystadenocarcinoma Multiple myeloma Breast neoplasm Uterine carcinosarcoma Neoplasm of brain Carcinoma of esophagus B-cell chronic lymphocytic leukemia Neoplasm of the large intestine Glioblastoma Pancreatic adenocarcinoma Squamous cell carcinoma of the head and neck Gastric adenocarcinoma Condition: not provided Neoplasm of ovary Hereditary cancer-predisposing syndrome Breast and/or ovarian cancer Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA002232	rs_760043106	12 SubmittersRCV000198789 RCV000421097 RCV000421751 RCV000429852 RCV000434805 RCV000436603 RCV000442071 RCV000419621 RCV000438726 RCV000418938 RCV000423911 RCV000428484 RCV000429211 RCV000434089 RCV000437301 RCV000439388 RCV000441624 RCV000487386 RCV000785324 RCV001024600 RCV001271054 RCV002288812 RCV003474953
NM_002524.5(NRAS):c.35G>C (p.Gly12Ala)	SNV Germline/somatic	Chr1:114716126	Pathogenic/Likely pathogenic	Myelodysplastic syndrome progressed to acute myeloid leukemia Condition: not provided Acute myeloid leukemia Non-small cell lung carcinoma Multiple myeloma Melanoma Malignant melanoma of skin Myelodysplastic syndrome Gastric adenocarcinoma Malignant neoplasm of body of uterus Neoplasm of the large intestine RASopathy Noonan syndrome and Noonan-related syndrome	Criteria Provided Multiple Submitters No Conflicts	CA280928	rs_121913237	5 SubmittersRCV000203450 RCV000380895 RCV000426950 RCV000427550 RCV000418647 RCV000434113 RCV000444591 RCV000425963 RCV000433455 RCV000437165 RCV000444670 RCV001324275 RCV001813426
NM_000546.6(TP53):c.833C>T (p.Pro278Leu)	SNV Germline/somatic	Chr17:7673787	Pathogenic	Hereditary cancer-predisposing syndrome Neoplasm of brain Squamous cell carcinoma of the skin Squamous cell lung carcinoma Pancreatic adenocarcinoma Lung adenocarcinoma Squamous cell carcinoma of the head and neck Multiple myeloma Malignant neoplasm of body of uterus Malignant melanoma of skin Neoplasm of the large intestine Breast neoplasm Carcinoma of esophagus Ovarian serous cystadenocarcinoma Neoplasm of ovary Gallbladder cancer Li-Fraumeni syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10580915	rs_876659802	6 SubmittersRCV000214784 RCV000421915 RCV000424153 RCV000429345 RCV000430442 RCV000433311 RCV000434963 RCV000443824 RCV000419043 RCV000440687 RCV000417969 RCV000423023 RCV000428205 RCV000439555 RCV000785311 RCV001374441 RCV001042706 RCV001541668
NM_000546.6(TP53):c.818G>C (p.Arg273Pro)	SNV Germline/somatic	Chr17:7673802	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Multiple myeloma Adrenal cortex carcinoma Transitional cell carcinoma of the bladder Pancreatic adenocarcinoma Malignant melanoma of skin Neoplasm of brain Malignant neoplasm of body of uterus Squamous cell carcinoma of the head and neck Prostate adenocarcinoma Breast neoplasm Medulloblastoma Uterine carcinosarcoma Ovarian serous cystadenocarcinoma Gastric adenocarcinoma Carcinoma of esophagus Brainstem glioma Acute myeloid leukemia B-cell chronic lymphocytic leukemia Squamous cell lung carcinoma Hepatocellular carcinoma Neoplasm of the large intestine Small cell lung carcinoma Lung adenocarcinoma Glioblastoma Li-Fraumeni syndrome Neoplasm of ovary Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10580917	rs_28934576	6 SubmittersRCV000222860 RCV000418732 RCV000419080 RCV000422030 RCV000419328 RCV000419898 RCV000420123 RCV000426561 RCV000421059 RCV000426712 RCV000427328 RCV000427811 RCV000429434 RCV000429654 RCV000431744 RCV000431835 RCV000436356 RCV000439039 RCV000439246 RCV000440313 RCV000434099 RCV000437116 RCV000437377 RCV000444938 RCV000442511 RCV000553607 RCV000785460 RCV002288863
NM_000546.6(TP53):c.815T>G (p.Val272Gly)	SNV Germline/somatic	Chr17:7673805	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Breast neoplasm Malignant neoplasm of body of uterus Ovarian serous cystadenocarcinoma Gastric adenocarcinoma Pancreatic adenocarcinoma Squamous cell carcinoma of the skin Squamous cell carcinoma of the head and neck Multiple myeloma Neoplasm of the large intestine Transitional cell carcinoma of the bladder Lung adenocarcinoma Papillary renal cell carcinoma type 1 Medulloblastoma Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA10580918	rs_876660333	4 SubmittersRCV000220536 RCV000422297 RCV000421184 RCV000419845 RCV000420090 RCV000431226 RCV000441216 RCV000441467 RCV000427960 RCV000430105 RCV000421439 RCV000432569 RCV000439065 RCV000444129 RCV002515714 RCV004020685
NM_000546.6(TP53):c.743G>T (p.Arg248Leu)	SNV Germline/somatic	Chr17:7674220	Pathogenic	Hereditary cancer-predisposing syndrome Neoplasm of brain Squamous cell lung carcinoma Acute myeloid leukemia Multiple myeloma Squamous cell carcinoma of the head and neck Lung adenocarcinoma Small cell lung carcinoma Uterine carcinosarcoma Transitional cell carcinoma of the bladder Carcinoma of esophagus Neoplasm of the large intestine Brainstem glioma Medulloblastoma Pancreatic adenocarcinoma Malignant melanoma of skin Myelodysplastic syndrome Malignant neoplasm of body of uterus B-cell chronic lymphocytic leukemia Ovarian serous cystadenocarcinoma Hepatocellular carcinoma Gastric adenocarcinoma Glioblastoma Squamous cell carcinoma of the skin Breast neoplasm Prostate adenocarcinoma Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Reviewed By Expert Panel	CA10580924	rs_11540652	7 SubmittersRCV000219834 RCV000422303 RCV000422821 RCV000429221 RCV000439901 RCV000427307 RCV000428586 RCV000434177 RCV000417894 RCV000418531 RCV000439516 RCV000440686 RCV000423159 RCV000423468 RCV000424394 RCV000443712 RCV000424119 RCV000445266 RCV000430044 RCV000433237 RCV000435726 RCV000433865 RCV000443630 RCV000435101 RCV000437940 RCV000445145 RCV000991149 RCV003475005 RCV004020650
NM_000546.6(TP53):c.587G>C (p.Arg196Pro)	SNV Germline/somatic	Chr17:7674944	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Neoplasm of the large intestine Squamous cell carcinoma of the head and neck Papillary renal cell carcinoma type 1 Carcinoma of esophagus Squamous cell lung carcinoma Neoplasm of brain Small cell lung carcinoma Breast neoplasm Ovarian serous cystadenocarcinoma Lung adenocarcinoma Malignant melanoma of skin Multiple myeloma Squamous cell carcinoma of the skin Pancreatic adenocarcinoma Gastric adenocarcinoma Glioblastoma Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10580934	rs_483352697	6 SubmittersRCV000216410 RCV000418400 RCV000423798 RCV000427483 RCV000431695 RCV000443813 RCV000443927 RCV000419494 RCV000425092 RCV000429772 RCV000433800 RCV000435372 RCV000436292 RCV000426017 RCV000434064 RCV000440531 RCV000440866 RCV003114386 RCV004020663
NM_000546.6(TP53):c.743G>C (p.Arg248Pro)	SNV Germline/somatic	Chr17:7674220	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Gastric adenocarcinoma Malignant neoplasm of body of uterus Pancreatic adenocarcinoma Malignant melanoma of skin Breast neoplasm Glioblastoma Squamous cell carcinoma of the head and neck Neoplasm of the large intestine Medulloblastoma B-cell chronic lymphocytic leukemia Hepatocellular carcinoma Ovarian serous cystadenocarcinoma Multiple myeloma Neoplasm of brain Squamous cell lung carcinoma Squamous cell carcinoma of the skin Acute myeloid leukemia Lung adenocarcinoma Small cell lung carcinoma Uterine carcinosarcoma Myelodysplastic syndrome Prostate adenocarcinoma Brainstem glioma Carcinoma of esophagus Transitional cell carcinoma of the bladder Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10583676	rs_11540652	4 SubmittersRCV000229442 RCV000420292 RCV000421633 RCV000425773 RCV000430314 RCV000434831 RCV000431663 RCV000432304 RCV000432999 RCV000436850 RCV000438849 RCV000445077 RCV000418894 RCV000419610 RCV000426089 RCV000435488 RCV000436124 RCV000441018 RCV000444130 RCV000444805 RCV000420936 RCV000424795 RCV000425414 RCV000430964 RCV000441674 RCV000443867 RCV002378977 RCV004020765
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro)	SNV Germline/somatic	Chr1:114713908	Pathogenic	Condition: not provided Nasopharyngeal neoplasm Non-small cell lung carcinoma Neoplasm of the large intestine Malignant neoplasm of body of uterus Glioblastoma Malignant melanoma of skin Melanoma Hepatocellular carcinoma Ovarian serous cystadenocarcinoma Lung adenocarcinoma Papillary renal cell carcinoma type 1 Adrenal cortex carcinoma Multiple myeloma Gastric adenocarcinoma Neoplasm of brain Acute myeloid leukemia B-cell chronic lymphocytic leukemia Transitional cell carcinoma of the bladder Thyroid tumor Noonan syndrome 6	Criteria Provided Single Submitter	CA10602732	rs_11554290	3 SubmittersRCV000291285 RCV000426654 RCV000428903 RCV000430000 RCV000421496 RCV000432170 RCV000427746 RCV000431592 RCV000437545 RCV000439526 RCV000439765 RCV000444660 RCV000419053 RCV000419201 RCV000421291 RCV000434604 RCV000444278 RCV000420302 RCV000437312 RCV000438468 RCV003155143
NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp)	SNV Germline	Chr13:108208744	Conflicting classifications of pathogenicity	DNA ligase IV deficiency Severe combined immunodeficiency due to DCLRE1C deficiency Multiple myeloma DNA ligase IV deficiency Condition: not provided not specified LIG4-related disorder	Criteria Provided Conflicting Classifications	CA7043477	rs_72660870	7 SubmittersRCV000272998 RCV000383863 RCV000763874 RCV000857399 RCV001820917 RCV004537756
NM_002524.5(NRAS):c.183A>T (p.Gln61His)	SNV Germline/somatic	Chr1:114713907	Conflicting classifications of pathogenicity	Condition: not provided Glioblastoma Acute myeloid leukemia Thyroid tumor Hepatocellular carcinoma Multiple myeloma Nasopharyngeal neoplasm Adrenal cortex carcinoma Malignant melanoma of skin Gastric adenocarcinoma B-cell chronic lymphocytic leukemia Melanoma Malignant neoplasm of body of uterus Transitional cell carcinoma of the bladder Neoplasm of the large intestine Neoplasm of brain Ovarian serous cystadenocarcinoma Papillary renal cell carcinoma type 1 Lung adenocarcinoma Noonan syndrome and Noonan-related syndrome	Criteria Provided Conflicting Classifications	CA16042285	rs_121913255	3 SubmittersRCV000414646 RCV000418758 RCV000419887 RCV000420910 RCV000420139 RCV000424220 RCV000422093 RCV000427364 RCV000428418 RCV000436881 RCV000429704 RCV000438233 RCV000431603 RCV000434043 RCV000437158 RCV000444600 RCV000429512 RCV000439006 RCV000439308 RCV001813470
NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter)	SNV Germline/somatic	Chr12:49031861	Pathogenic	Condition: not provided Kabuki syndrome 1 Multiple myeloma KMT2D-related disorder Kabuki syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16042794	rs_1057517992	8 SubmittersRCV000413702 RCV000594502 RCV000984092 RCV004530513 RCV003588627
NM_002524.5(NRAS):c.38G>T (p.Gly13Val)	SNV Germline/somatic	Chr1:114716123	Likely pathogenic	Neoplasm Melanoma Malignant melanoma of skin Acute myeloid leukemia Medulloblastoma Gastric adenocarcinoma Transitional cell carcinoma of the bladder Non-Hodgkin lymphoma Neoplasm of the large intestine Cardiovascular phenotype Multiple myeloma Myelodysplastic syndrome	Criteria Provided Single Submitter	CA16602363	rs_121434596	2 SubmittersRCV000417850 RCV000423218 RCV000425977 RCV000432522 RCV000430805 RCV000435607 RCV000436237 RCV000437557 RCV000445025 RCV004022195 RCV000424444 RCV000444067
NM_005896.4(IDH1):c.395G>T (p.Arg132Leu)	SNV Somatic	Chr2:208248388	Pathogenic/Likely pathogenic	Myelodysplastic syndrome Neoplasm of the large intestine Acute myeloid leukemia Transitional cell carcinoma of the bladder Medulloblastoma Glioblastoma Malignant melanoma of skin Lung adenocarcinoma Prostate adenocarcinoma Neoplasm of brain Multiple myeloma Breast neoplasm Brainstem glioma Hepatocellular carcinoma Adenoid cystic carcinoma	No Assertion Criteria Provided	CA16602372	rs_121913500	1 SubmittersRCV000418043 RCV000423104 RCV000424309 RCV000424554 RCV000425224 RCV000425475 RCV000430835 RCV000432682 RCV000433807 RCV000433285 RCV000435256 RCV000440464 RCV000441571 RCV000442225 RCV000445003
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys)	SNV Germline/somatic	Chr2:208248389	Pathogenic/Likely pathogenic	Lung adenocarcinoma Breast neoplasm Medulloblastoma Malignant melanoma of skin Transitional cell carcinoma of the bladder Brainstem glioma Adenoid cystic carcinoma Hepatocellular carcinoma Neoplasm of brain Acute myeloid leukemia Astrocytoma Neoplasm of the large intestine Prostate adenocarcinoma Glioblastoma Myelodysplastic syndrome Multiple myeloma Condition: not provided Maffucci syndrome Enchondromatosis Enchondromatosis Glioma susceptibility 1 Maffucci syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16602374	rs_121913499	11 SubmittersRCV000419656 RCV000420988 RCV000428207 RCV000430360 RCV000434107 RCV000438918 RCV000435816 RCV000426141 RCV000418601 RCV000445302 RCV000421691 RCV000436904 RCV000437909 RCV000439965 RCV000441917 RCV000429279 RCV000997650 RCV002291276 RCV002227473 RCV003323531 RCV003458426
NM_005896.4(IDH1):c.394C>G (p.Arg132Gly)	SNV Somatic	Chr2:208248389	Pathogenic/Likely pathogenic	Hepatocellular carcinoma Multiple myeloma Medulloblastoma Neoplasm of brain Adenoid cystic carcinoma Transitional cell carcinoma of the bladder Breast neoplasm Neoplasm of the large intestine Acute myeloid leukemia Prostate adenocarcinoma Malignant melanoma of skin Glioblastoma Brainstem glioma Lung adenocarcinoma Myelodysplastic syndrome	No Assertion Criteria Provided	CA16602375	rs_121913499	1 SubmittersRCV000417625 RCV000418685 RCV000419742 RCV000424071 RCV000425039 RCV000427476 RCV000427882 RCV000428941 RCV000434778 RCV000435299 RCV000436387 RCV000437708 RCV000440922 RCV000442058 RCV000444712
NM_005896.4(IDH1):c.394C>A (p.Arg132Ser)	SNV Germline/somatic	Chr2:208248389	Pathogenic	Adenoid cystic carcinoma Hepatocellular carcinoma Brainstem glioma Prostate adenocarcinoma Medulloblastoma Neoplasm of the large intestine Astrocytoma Lung adenocarcinoma Breast neoplasm Neoplasm of brain Glioblastoma Myelodysplastic syndrome Acute myeloid leukemia Multiple myeloma Transitional cell carcinoma of the bladder Malignant melanoma of skin Condition: not provided	Criteria Provided Single Submitter	CA16602376	rs_121913499	2 SubmittersRCV000418324 RCV000424342 RCV000424724 RCV000423616 RCV000425839 RCV000426812 RCV000430064 RCV000432144 RCV000431514 RCV000434628 RCV000435988 RCV000437066 RCV000440287 RCV000441330 RCV000442342 RCV000445051 RCV003884519
NM_004333.6(BRAF):c.1786G>C (p.Gly596Arg)	SNV Somatic	Chr7:140753349	Pathogenic/Likely pathogenic	Lung adenocarcinoma Melanoma Multiple myeloma Neoplasm of the large intestine Transitional cell carcinoma of the bladder Glioblastoma	No Assertion Criteria Provided	CA16602422	rs_121913361	1 SubmittersRCV000418853 RCV000421748 RCV000429106 RCV000429746 RCV000436498 RCV000439396
NM_004333.6(BRAF):c.1780G>C (p.Asp594His)	SNV Somatic	Chr7:140753355	Pathogenic/Likely pathogenic	Squamous cell carcinoma of the head and neck Adrenal cortex carcinoma Neoplasm of the large intestine Lung adenocarcinoma B-cell chronic lymphocytic leukemia Neoplasm of brain Malignant melanoma of skin Multiple myeloma Melanoma Transitional cell carcinoma of the bladder	No Assertion Criteria Provided	CA16602426	rs_397516896	1 SubmittersRCV000417560 RCV000420810 RCV000428250 RCV000433859 RCV000423137 RCV000441525 RCV000428467 RCV000430625 RCV000435646 RCV000441346
NM_033360.4(KRAS):c.436G>C (p.Ala146Pro)	SNV Germline/somatic	Chr12:25225628	Pathogenic/Likely pathogenic	Neoplasm of the large intestine Multiple myeloma Autoimmune lymphoproliferative syndrome type 4 RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA16602441	rs_121913527	4 SubmittersRCV000444020 RCV000984134 RCV002259922 RCV001861474
NM_033360.4(KRAS):c.351A>C (p.Lys117Asn)	SNV Germline/somatic	Chr12:25225713	Pathogenic	Carcinoma of esophagus Neoplasm of the large intestine Malignant melanoma of skin Multiple myeloma Hepatocellular carcinoma Gastric adenocarcinoma Condition: not provided Encephalocraniocutaneous lipomatosis	Criteria Provided Single Submitter	CA6486888	rs_770248150	3 SubmittersRCV000425803 RCV000425583 RCV000435219 RCV000435839 RCV000442858 RCV000443670 RCV001200581 RCV001731671
NM_002168.4(IDH2):c.419G>T (p.Arg140Leu)	SNV Somatic	Chr15:90088702	Pathogenic/Likely pathogenic	Myelodysplastic syndrome Acute myeloid leukemia Squamous cell carcinoma of the head and neck Multiple myeloma Neoplasm of the large intestine	No Assertion Criteria Provided	CA16602463	rs_121913502	1 SubmittersRCV000419881 RCV000424921 RCV000426646 RCV000435643 RCV000436884
NM_004333.6(BRAF):c.1397G>A (p.Gly466Glu)	SNV Germline/somatic	Chr7:140781611	Conflicting classifications of pathogenicity	Neoplasm of the large intestine Squamous cell carcinoma of the head and neck Lung adenocarcinoma Multiple myeloma Squamous cell lung carcinoma Melanoma Malignant melanoma of skin RASopathy Noonan syndrome 7	Criteria Provided Conflicting Classifications	CA16602535	rs_121913351	3 SubmittersRCV000424079 RCV000427285 RCV000434755 RCV000431475 RCV000437081 RCV000443232 RCV000442274 RCV001861476 RCV003128083
NM_004333.6(BRAF):c.1397G>C (p.Gly466Ala)	SNV Somatic	Chr7:140781611	Likely pathogenic	Lung adenocarcinoma Squamous cell carcinoma of the head and neck Malignant melanoma of skin Neoplasm of the large intestine Melanoma Squamous cell lung carcinoma Multiple myeloma	No Assertion Criteria Provided	CA16602743	rs_121913351	1 SubmittersRCV000418222 RCV000424689 RCV000427554 RCV000435402 RCV000438268 RCV000444553 RCV000444041
NM_004048.4(B2M):c.3G>A (p.Met1Ile)	SNV Somatic	Chr15:44711549	Likely pathogenic	Neoplasm of the large intestine Non-Hodgkin lymphoma Ovarian serous cystadenocarcinoma Malignant melanoma of skin Multiple myeloma Lung adenocarcinoma Squamous cell carcinoma of the head and neck Gastric adenocarcinoma Small cell lung carcinoma Squamous cell lung carcinoma	No Assertion Criteria Provided	CA16602807	rs_1057519877	1 SubmittersRCV000422802 RCV000426129 RCV000423896 RCV000430927 RCV000432370 RCV000433517 RCV000433775 RCV000441172 RCV000442543 RCV000442680
NM_004048.4(B2M):c.1A>G (p.Met1Val)	SNV Somatic	Chr15:44711547	Likely pathogenic	Lung adenocarcinoma Gastric adenocarcinoma Multiple myeloma Ovarian serous cystadenocarcinoma Non-Hodgkin lymphoma Neoplasm of the large intestine Squamous cell lung carcinoma Malignant melanoma of skin Squamous cell carcinoma of the head and neck Small cell lung carcinoma	No Assertion Criteria Provided	CA16602808	rs_1023835002	1 SubmittersRCV000419609 RCV000424715 RCV000417544 RCV000420829 RCV000430542 RCV000424903 RCV000435632 RCV000438049 RCV000441263 RCV000445210
NM_004048.4(B2M):c.1A>T (p.Met1Leu)	SNV Somatic	Chr15:44711547	Likely pathogenic	Lung adenocarcinoma Multiple myeloma Neoplasm of the large intestine Gastric adenocarcinoma Small cell lung carcinoma Non-Hodgkin lymphoma Squamous cell lung carcinoma Ovarian serous cystadenocarcinoma Squamous cell carcinoma of the head and neck Malignant melanoma of skin	No Assertion Criteria Provided	CA16602809	rs_1023835002	1 SubmittersRCV000422880 RCV000421861 RCV000425118 RCV000430300 RCV000431428 RCV000432545 RCV000432685 RCV000441906 RCV000439880 RCV000440097
NM_004048.4(B2M):c.2T>C (p.Met1Thr)	SNV Somatic	Chr15:44711548	Likely pathogenic	Lung adenocarcinoma Multiple myeloma Squamous cell carcinoma of the head and neck Small cell lung carcinoma Non-Hodgkin lymphoma Ovarian serous cystadenocarcinoma Squamous cell lung carcinoma Neoplasm of the large intestine Malignant melanoma of skin Gastric adenocarcinoma	No Assertion Criteria Provided	CA16602810	rs_1057519879	1 SubmittersRCV000419044 RCV000419253 RCV000420355 RCV000427508 RCV000429996 RCV000426708 RCV000437364 RCV000439772 RCV000444855 RCV000438190
NM_004048.4(B2M):c.2T>G (p.Met1Arg)	SNV Somatic	Chr15:44711548	Likely pathogenic	Neoplasm of the large intestine Non-Hodgkin lymphoma Small cell lung carcinoma Squamous cell lung carcinoma Lung adenocarcinoma Ovarian serous cystadenocarcinoma Squamous cell carcinoma of the head and neck Malignant melanoma of skin Multiple myeloma Gastric adenocarcinoma	No Assertion Criteria Provided	CA16602811	rs_1057519879	1 SubmittersRCV000421385 RCV000421129 RCV000428897 RCV000423518 RCV000432053 RCV000434386 RCV000434444 RCV000438363 RCV000439578 RCV000442386
NM_004333.6(BRAF):c.1786G>A (p.Gly596Ser)	SNV Somatic	Chr7:140753349	Likely pathogenic	Multiple myeloma Glioblastoma Lung adenocarcinoma Transitional cell carcinoma of the bladder	No Assertion Criteria Provided	CA16602813	rs_121913361	1 SubmittersRCV000422893 RCV000423119 RCV000433824 RCV000442552
NM_004333.6(BRAF):c.1787G>A (p.Gly596Asp)	SNV Somatic	Chr7:140753348	Likely pathogenic	Glioblastoma Multiple myeloma Lung adenocarcinoma Transitional cell carcinoma of the bladder	No Assertion Criteria Provided	CA16602814	rs_397507483	1 SubmittersRCV000425257 RCV000432706 RCV000435960 RCV000442687
NM_004333.6(BRAF):c.1742A>C (p.Asn581Thr)	SNV Somatic	Chr7:140753393	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma, sporadic Lung adenocarcinoma Malignant melanoma of skin Neoplasm of the large intestine Multiple myeloma Ovarian serous cystadenocarcinoma Condition: not provided	No Assertion Criteria Provided	CA16602815	rs_121913370	2 SubmittersRCV000419907 RCV000422334 RCV000429764 RCV000430791 RCV000440423 RCV000440655 RCV001355069
NM_006218.4(PIK3CA):c.331A>G (p.Lys111Glu)	SNV Somatic	Chr3:179199156	Pathogenic	Gastric adenocarcinoma Neuroblastoma Squamous cell carcinoma of the head and neck Malignant neoplasm of body of uterus Neoplasm of the large intestine Glioblastoma Multiple myeloma Neoplasm of uterine cervix Lung adenocarcinoma Neoplasm of brain Breast neoplasm Cowden syndrome 5	Criteria Provided Single Submitter	CA16602916	rs_1057519933	2 SubmittersRCV000421413 RCV000421221 RCV000425975 RCV000426940 RCV000431459 RCV000432535 RCV000436960 RCV000437184 RCV000442136 RCV000442739 RCV000442943 RCV003147452
NM_006218.4(PIK3CA):c.332A>G (p.Lys111Arg)	SNV Somatic	Chr3:179199157	Likely pathogenic	Neoplasm of uterine cervix Lung adenocarcinoma Gastric adenocarcinoma Breast neoplasm Squamous cell carcinoma of the head and neck Multiple myeloma Glioblastoma Neoplasm of the large intestine Neuroblastoma Neoplasm of brain Malignant neoplasm of body of uterus	No Assertion Criteria Provided	CA16602918	rs_1057519935	1 SubmittersRCV000417780 RCV000423063 RCV000424501 RCV000426788 RCV000427854 RCV000433335 RCV000437845 RCV000438066 RCV000442310 RCV000443094 RCV000443132
NM_000546.6(TP53):c.423C>G (p.Cys141Trp)	SNV Germline/somatic	Chr17:7675189	Pathogenic/Likely pathogenic	Acute myeloid leukemia Multiple myeloma Squamous cell lung carcinoma Neoplasm of the large intestine Breast neoplasm Malignant neoplasm of body of uterus Pancreatic adenocarcinoma Prostate adenocarcinoma Papillary renal cell carcinoma type 1 Neoplasm of brain Lung adenocarcinoma Hereditary cancer-predisposing syndrome Squamous cell carcinoma of the head and neck Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16602990	rs_1057519977	3 SubmittersRCV000425931 RCV000423924 RCV000424802 RCV000422816 RCV000430241 RCV000434169 RCV000431589 RCV000434797 RCV000445034 RCV000440499 RCV000442353 RCV000492201 RCV000444942 RCV000467641
NM_000546.6(TP53):c.421T>C (p.Cys141Arg)	SNV Germline/somatic	Chr17:7675191	Conflicting classifications of pathogenicity	Neoplasm of brain Acute myeloid leukemia Lung adenocarcinoma Multiple myeloma Neoplasm of the large intestine Papillary renal cell carcinoma type 1 Squamous cell lung carcinoma Breast neoplasm Malignant neoplasm of body of uterus Prostate adenocarcinoma Squamous cell carcinoma of the head and neck Pancreatic adenocarcinoma Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16602991	rs_1057519978	3 SubmittersRCV000419723 RCV000420817 RCV000418678 RCV000423623 RCV000425407 RCV000432161 RCV000430017 RCV000437414 RCV000431037 RCV000436190 RCV000440220 RCV000441312 RCV001861481 RCV002328907
NM_000546.6(TP53):c.421T>G (p.Cys141Gly)	SNV Somatic	Chr17:7675191	Likely pathogenic	Acute myeloid leukemia Neoplasm of the large intestine Lung adenocarcinoma Multiple myeloma Pancreatic adenocarcinoma Squamous cell carcinoma of the head and neck Malignant neoplasm of body of uterus Breast neoplasm Papillary renal cell carcinoma type 1 Prostate adenocarcinoma Squamous cell lung carcinoma Neoplasm of brain	No Assertion Criteria Provided	CA16602992	rs_1057519978	1 SubmittersRCV000419137 RCV000420961 RCV000425541 RCV000426677 RCV000427661 RCV000432339 RCV000432969 RCV000436820 RCV000437911 RCV000438636 RCV000444521 RCV000444835
NM_000546.6(TP53):c.421T>A (p.Cys141Ser)	SNV Somatic	Chr17:7675191	Likely pathogenic	Breast neoplasm Papillary renal cell carcinoma type 1 Malignant neoplasm of body of uterus Neoplasm of brain Squamous cell carcinoma of the head and neck Acute myeloid leukemia Lung adenocarcinoma Pancreatic adenocarcinoma Neoplasm of the large intestine Prostate adenocarcinoma Squamous cell lung carcinoma Multiple myeloma	No Assertion Criteria Provided	CA16602993	rs_1057519978	1 SubmittersRCV000417913 RCV000420314 RCV000422574 RCV000421892 RCV000428237 RCV000430556 RCV000432852 RCV000433900 RCV000438490 RCV000439057 RCV000439533 RCV000442038
NM_000546.6(TP53):c.422G>T (p.Cys141Phe)	SNV Germline/somatic	Chr17:7675190	Conflicting classifications of pathogenicity	Acute myeloid leukemia Papillary renal cell carcinoma type 1 Malignant neoplasm of body of uterus Lung adenocarcinoma Prostate adenocarcinoma Squamous cell lung carcinoma Breast neoplasm Multiple myeloma Squamous cell carcinoma of the head and neck Neoplasm of brain Neoplasm of the large intestine Pancreatic adenocarcinoma Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16602994	rs_587781288	3 SubmittersRCV000417404 RCV000418478 RCV000423030 RCV000425219 RCV000427605 RCV000429427 RCV000433302 RCV000436176 RCV000435499 RCV000437866 RCV000444376 RCV000445236 RCV001214540
NM_000546.6(TP53):c.713G>T (p.Cys238Phe)	SNV Germline/somatic	Chr17:7674250	Pathogenic/Likely pathogenic	Malignant neoplasm of body of uterus Breast neoplasm Pancreatic adenocarcinoma Multiple myeloma Lung adenocarcinoma Neoplasm of brain Squamous cell carcinoma of the head and neck Gastric adenocarcinoma Ovarian serous cystadenocarcinoma Uterine carcinosarcoma B-cell chronic lymphocytic leukemia Hepatocellular carcinoma Neoplasm of uterine cervix Neoplasm of the large intestine Carcinoma of esophagus Glioblastoma Transitional cell carcinoma of the bladder Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603000	rs_730882005	5 SubmittersRCV000418555 RCV000417498 RCV000422481 RCV000422719 RCV000425072 RCV000427235 RCV000427531 RCV000428817 RCV000433989 RCV000432745 RCV000435343 RCV000433862 RCV000435149 RCV000439349 RCV000440369 RCV000442469 RCV000444988 RCV000473420 RCV002365459 RCV004022207
NM_000546.6(TP53):c.713G>C (p.Cys238Ser)	SNV Germline/somatic	Chr17:7674250	Pathogenic/Likely pathogenic	Neoplasm of brain Squamous cell carcinoma of the head and neck Malignant neoplasm of body of uterus Gastric adenocarcinoma B-cell chronic lymphocytic leukemia Transitional cell carcinoma of the bladder Glioblastoma Uterine carcinosarcoma Neoplasm of the large intestine Breast neoplasm Hepatocellular carcinoma Carcinoma of esophagus Neoplasm of uterine cervix Ovarian serous cystadenocarcinoma Pancreatic adenocarcinoma Multiple myeloma Lung adenocarcinoma Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16603001	rs_730882005	7 SubmittersRCV000418923 RCV000419485 RCV000423226 RCV000424531 RCV000425465 RCV000425867 RCV000424302 RCV000429749 RCV000432222 RCV000434344 RCV000435732 RCV000434584 RCV000440842 RCV000439773 RCV000441115 RCV000442527 RCV000442617 RCV001067780 RCV001523834 RCV001551247 RCV002289520
NM_000546.6(TP53):c.712T>C (p.Cys238Arg)	SNV Germline/somatic	Chr17:7674251	Pathogenic/Likely pathogenic	B-cell chronic lymphocytic leukemia Hepatocellular carcinoma Glioblastoma Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix Multiple myeloma Neoplasm of the large intestine Pancreatic adenocarcinoma Malignant neoplasm of body of uterus Gastric adenocarcinoma Carcinoma of esophagus Uterine carcinosarcoma Squamous cell carcinoma of the head and neck Hereditary cancer-predisposing syndrome Lung adenocarcinoma Transitional cell carcinoma of the bladder Neoplasm of brain Breast neoplasm Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603002	rs_1057519981	5 SubmittersRCV000421933 RCV000428210 RCV000419348 RCV000430482 RCV000420409 RCV000421679 RCV000437199 RCV000424052 RCV000437018 RCV000426193 RCV000438447 RCV000430655 RCV000433046 RCV000492666 RCV000441834 RCV000442237 RCV000431946 RCV000441879 RCV000812726 RCV002289521
NM_000546.6(TP53):c.712T>G (p.Cys238Gly)	SNV Germline/somatic	Chr17:7674251	Pathogenic	Lung adenocarcinoma Carcinoma of esophagus Uterine carcinosarcoma Transitional cell carcinoma of the bladder Neoplasm of uterine cervix Neoplasm of the large intestine Pancreatic adenocarcinoma Ovarian serous cystadenocarcinoma B-cell chronic lymphocytic leukemia Multiple myeloma Squamous cell carcinoma of the head and neck Glioblastoma Gastric adenocarcinoma Malignant neoplasm of body of uterus Neoplasm of brain Hepatocellular carcinoma Breast neoplasm Neoplasm of ovary Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16603003	rs_1057519981	4 SubmittersRCV000417486 RCV000422044 RCV000420677 RCV000423396 RCV000422283 RCV000427246 RCV000428630 RCV000428804 RCV000430919 RCV000433478 RCV000437321 RCV000438876 RCV000439946 RCV000435170 RCV000443356 RCV000444792 RCV000437476 RCV000785550 RCV002365460 RCV001390630
NM_000546.6(TP53):c.824G>T (p.Cys275Phe)	SNV Germline/somatic	Chr17:7673796	Pathogenic	Lung adenocarcinoma Pancreatic adenocarcinoma Neoplasm of brain Breast neoplasm Papillary renal cell carcinoma type 1 Squamous cell carcinoma of the head and neck Ovarian serous cystadenocarcinoma Carcinoma of esophagus Malignant melanoma of skin Neoplasm of the large intestine Adrenal cortex carcinoma Multiple myeloma Transitional cell carcinoma of the bladder Glioblastoma Hepatocellular carcinoma B-cell chronic lymphocytic leukemia Neoplasm of ovary Li-Fraumeni syndrome	Criteria Provided Single Submitter	CA16603006	rs_863224451	3 SubmittersRCV000418840 RCV000420903 RCV000423743 RCV000425095 RCV000423016 RCV000429558 RCV000428868 RCV000434455 RCV000430324 RCV000440235 RCV000441009 RCV000431612 RCV000432328 RCV000441652 RCV000436058 RCV000442601 RCV000785323 RCV001861482
NM_000546.6(TP53):c.824G>C (p.Cys275Ser)	SNV Germline/somatic	Chr17:7673796	Conflicting classifications of pathogenicity	Lung adenocarcinoma Glioblastoma Neoplasm of the large intestine Adrenal cortex carcinoma Carcinoma of esophagus Ovarian serous cystadenocarcinoma Transitional cell carcinoma of the bladder Malignant melanoma of skin Hepatocellular carcinoma B-cell chronic lymphocytic leukemia Papillary renal cell carcinoma type 1 Squamous cell carcinoma of the head and neck Pancreatic adenocarcinoma Breast neoplasm Neoplasm of brain Multiple myeloma Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16603007	rs_863224451	4 SubmittersRCV000419235 RCV000420599 RCV000419912 RCV000423341 RCV000423990 RCV000425744 RCV000426441 RCV000431286 RCV000430590 RCV000434260 RCV000436480 RCV000437115 RCV000438476 RCV000441019 RCV000441335 RCV000441960 RCV000580293 RCV002521506
NM_000546.6(TP53):c.823T>C (p.Cys275Arg)	SNV Germline/somatic	Chr17:7673797	Conflicting classifications of pathogenicity	Neoplasm of brain Breast neoplasm Hepatocellular carcinoma Neoplasm of the large intestine Multiple myeloma Pancreatic adenocarcinoma Papillary renal cell carcinoma type 1 Transitional cell carcinoma of the bladder Lung adenocarcinoma Carcinoma of esophagus Malignant melanoma of skin Glioblastoma Adrenal cortex carcinoma B-cell chronic lymphocytic leukemia Squamous cell carcinoma of the head and neck Ovarian serous cystadenocarcinoma Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603008	rs_1057519983	4 SubmittersRCV000418020 RCV000420225 RCV000420853 RCV000425483 RCV000424757 RCV000426139 RCV000431136 RCV000430390 RCV000432909 RCV000433579 RCV000435695 RCV000435015 RCV000440640 RCV000441393 RCV000442259 RCV000443110 RCV001183954 RCV002521507 RCV004022208
NM_000546.6(TP53):c.841G>T (p.Asp281Tyr)	SNV Germline/somatic	Chr17:7673779	Pathogenic/Likely pathogenic	B-cell chronic lymphocytic leukemia Squamous cell lung carcinoma Transitional cell carcinoma of the bladder Breast neoplasm Squamous cell carcinoma of the head and neck Pancreatic adenocarcinoma Multiple myeloma Lung adenocarcinoma Gastric adenocarcinoma Papillary renal cell carcinoma type 1 Ovarian serous cystadenocarcinoma Hepatocellular carcinoma Glioblastoma Squamous cell carcinoma of the skin Malignant melanoma of skin Malignant neoplasm of body of uterus Neuroblastoma Uterine carcinosarcoma Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603009	rs_764146326	3 SubmittersRCV000419187 RCV000419880 RCV000421597 RCV000422382 RCV000422971 RCV000424398 RCV000427237 RCV000429763 RCV000431847 RCV000430133 RCV000432647 RCV000437480 RCV000438115 RCV000436876 RCV000440017 RCV000442319 RCV000442636 RCV000443331 RCV000792342 RCV004022209
NM_000546.6(TP53):c.841G>A (p.Asp281Asn)	SNV Germline/somatic	Chr17:7673779	Pathogenic/Likely pathogenic	Multiple myeloma Hepatocellular carcinoma Neuroblastoma Glioblastoma B-cell chronic lymphocytic leukemia Squamous cell carcinoma of the skin Breast neoplasm Malignant melanoma of skin Gastric adenocarcinoma Ovarian serous cystadenocarcinoma Transitional cell carcinoma of the bladder Uterine carcinosarcoma Papillary renal cell carcinoma type 1 Malignant neoplasm of body of uterus Lung adenocarcinoma Squamous cell carcinoma of the head and neck Pancreatic adenocarcinoma Squamous cell lung carcinoma Neoplasm of ovary Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA001503	rs_764146326	5 SubmittersRCV000418705 RCV000421233 RCV000422096 RCV000426863 RCV000424002 RCV000428837 RCV000429505 RCV000428968 RCV000426180 RCV000434267 RCV000431489 RCV000437075 RCV000439749 RCV000442054 RCV000443405 RCV000443489 RCV000436424 RCV000438896 RCV000785452 RCV000824609 RCV002446642
NM_000546.6(TP53):c.841G>C (p.Asp281His)	SNV Germline/somatic	Chr17:7673779	Pathogenic/Likely pathogenic	Malignant melanoma of skin Squamous cell lung carcinoma Neuroblastoma Squamous cell carcinoma of the skin Multiple myeloma Uterine carcinosarcoma B-cell chronic lymphocytic leukemia Papillary renal cell carcinoma type 1 Gastric adenocarcinoma Ovarian serous cystadenocarcinoma Squamous cell carcinoma of the head and neck Lung adenocarcinoma Malignant neoplasm of body of uterus Transitional cell carcinoma of the bladder Pancreatic adenocarcinoma Breast neoplasm Hepatocellular carcinoma Glioblastoma Gallbladder cancer Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603010	rs_764146326	5 SubmittersRCV000420094 RCV000418744 RCV000421295 RCV000419869 RCV000422034 RCV000423682 RCV000428355 RCV000427301 RCV000429459 RCV000427507 RCV000429671 RCV000434610 RCV000437082 RCV000436837 RCV000439019 RCV000438193 RCV000439212 RCV000443566 RCV001292542 RCV001306199 RCV002446644 RCV004022210
NM_000546.6(TP53):c.842A>C (p.Asp281Ala)	SNV Somatic	Chr17:7673778	Likely pathogenic	Uterine carcinosarcoma Gastric adenocarcinoma Breast neoplasm Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Squamous cell carcinoma of the skin Lung adenocarcinoma Multiple myeloma Pancreatic adenocarcinoma Neuroblastoma B-cell chronic lymphocytic leukemia Papillary renal cell carcinoma type 1 Malignant neoplasm of body of uterus Malignant melanoma of skin Glioblastoma Squamous cell lung carcinoma Ovarian serous cystadenocarcinoma Transitional cell carcinoma of the bladder Adrenocortical carcinoma, hereditary	Criteria Provided Single Submitter	CA16603011	rs_587781525	2 SubmittersRCV000417517 RCV000419849 RCV000420104 RCV000422679 RCV000424893 RCV000427537 RCV000425979 RCV000429708 RCV000430790 RCV000433406 RCV000435611 RCV000435784 RCV000438210 RCV000440361 RCV000440602 RCV000442214 RCV000443934 RCV000442965 RCV003463826
NM_000546.6(TP53):c.583A>T (p.Ile195Phe)	SNV Germline/somatic	Chr17:7674948	Conflicting classifications of pathogenicity	Acute myeloid leukemia Neoplasm of brain Breast neoplasm Glioblastoma Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Uterine carcinosarcoma Lung adenocarcinoma Pancreatic adenocarcinoma Carcinoma of esophagus Gastric adenocarcinoma Multiple myeloma Ovarian serous cystadenocarcinoma Squamous cell lung carcinoma B-cell chronic lymphocytic leukemia Neoplasm of the large intestine Malignant tumor of esophagus Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA16603037	rs_942158624	5 SubmittersRCV000417891 RCV000418677 RCV000420717 RCV000425266 RCV000423573 RCV000428137 RCV000426094 RCV000426791 RCV000430955 RCV000433525 RCV000433861 RCV000435534 RCV000436319 RCV000438337 RCV000441219 RCV000444892 RCV001270271 RCV001345722 RCV002356515 RCV003329275
NM_000546.6(TP53):c.584T>A (p.Ile195Asn)	SNV Germline/somatic	Chr17:7674947	Conflicting classifications of pathogenicity	Glioblastoma Acute myeloid leukemia Hepatocellular carcinoma Squamous cell lung carcinoma B-cell chronic lymphocytic leukemia Uterine carcinosarcoma Neoplasm of the large intestine Carcinoma of esophagus Gastric adenocarcinoma Ovarian serous cystadenocarcinoma Pancreatic adenocarcinoma Multiple myeloma Lung adenocarcinoma Breast neoplasm Neoplasm of brain Li-Fraumeni syndrome Squamous cell carcinoma of the head and neck Neoplasm of ovary Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603038	rs_760043106	5 SubmittersRCV000417492 RCV000419606 RCV000420311 RCV000422932 RCV000425779 RCV000427719 RCV000424894 RCV000430554 RCV000432578 RCV000435160 RCV000433212 RCV000437965 RCV000440578 RCV000440765 RCV000444669 RCV000692717 RCV000442006 RCV000785514 RCV001024599 RCV002289528
NM_000546.6(TP53):c.584T>G (p.Ile195Ser)	SNV Germline/somatic	Chr17:7674947	Conflicting classifications of pathogenicity	Glioblastoma Breast neoplasm B-cell chronic lymphocytic leukemia Uterine carcinosarcoma Neoplasm of brain Squamous cell lung carcinoma Hepatocellular carcinoma Acute myeloid leukemia Pancreatic adenocarcinoma Squamous cell carcinoma of the head and neck Ovarian serous cystadenocarcinoma Lung adenocarcinoma Gastric adenocarcinoma Carcinoma of esophagus Multiple myeloma Neoplasm of the large intestine Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603039	rs_760043106	3 SubmittersRCV000421805 RCV000421312 RCV000422467 RCV000427622 RCV000426991 RCV000429226 RCV000431547 RCV000429901 RCV000432185 RCV000437865 RCV000437242 RCV000439461 RCV000440129 RCV000442296 RCV000442729 RCV000445057 RCV001184465 RCV004022221
NM_000546.6(TP53):c.396G>C (p.Lys132Asn)	SNV Germline/somatic	Chr17:7675216	Likely pathogenic	Lung adenocarcinoma Multiple myeloma Breast neoplasm Squamous cell carcinoma of the head and neck Neoplasm of the large intestine Uterine carcinosarcoma Squamous cell lung carcinoma Transitional cell carcinoma of the bladder Ovarian serous cystadenocarcinoma Pancreatic adenocarcinoma Adrenal cortex carcinoma Carcinoma of esophagus Glioblastoma Gastric adenocarcinoma Neoplasm of brain Neoplasm of uterine cervix Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Reviewed By Expert Panel	CA16603044	rs_866775781	5 SubmittersRCV000419339 RCV000422634 RCV000421516 RCV000424592 RCV000427056 RCV000430184 RCV000430063 RCV000432417 RCV000434424 RCV000432219 RCV000437720 RCV000439586 RCV000439834 RCV000440843 RCV000442346 RCV000442734 RCV000709407 RCV004022223
NM_000546.6(TP53):c.395A>G (p.Lys132Arg)	SNV Germline/somatic	Chr17:7675217	Pathogenic/Likely pathogenic	Neoplasm of brain Transitional cell carcinoma of the bladder Multiple myeloma Adrenal cortex carcinoma Uterine carcinosarcoma Gastric adenocarcinoma Ovarian serous cystadenocarcinoma Breast neoplasm Squamous cell carcinoma of the head and neck Neoplasm of uterine cervix Carcinoma of esophagus Pancreatic adenocarcinoma Lung adenocarcinoma Glioblastoma Li-Fraumeni syndrome Neoplasm of the large intestine Squamous cell lung carcinoma Neoplasm of ovary Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603045	rs_1057519996	6 SubmittersRCV000419418 RCV000421674 RCV000423130 RCV000418417 RCV000424246 RCV000419619 RCV000429087 RCV000428190 RCV000426827 RCV000429251 RCV000434074 RCV000438897 RCV000436453 RCV000443007 RCV000471183 RCV000436660 RCV000441520 RCV000785521 RCV002356517 RCV004022224
NM_000546.6(TP53):c.394A>G (p.Lys132Glu)	SNV Germline/somatic	Chr17:7675218	Conflicting classifications of pathogenicity	Ovarian serous cystadenocarcinoma Squamous cell carcinoma of the head and neck Neoplasm of the large intestine Multiple myeloma Breast neoplasm Transitional cell carcinoma of the bladder Uterine carcinosarcoma Pancreatic adenocarcinoma Neoplasm of uterine cervix Neoplasm of brain Carcinoma of esophagus Adrenal cortex carcinoma Lung adenocarcinoma Squamous cell lung carcinoma Glioblastoma Gastric adenocarcinoma Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA002647	rs_747342068	7 SubmittersRCV000417803 RCV000417874 RCV000423644 RCV000425237 RCV000426379 RCV000430828 RCV000428580 RCV000431096 RCV000433855 RCV000436180 RCV000434893 RCV000435981 RCV000440656 RCV000441816 RCV000442199 RCV000444903 RCV000468362 RCV000562533 RCV001253548 RCV004017609
NM_000546.6(TP53):c.395A>C (p.Lys132Thr)	SNV Germline/somatic	Chr17:7675217	Conflicting classifications of pathogenicity	Uterine carcinosarcoma Glioblastoma Neoplasm of the large intestine Neoplasm of uterine cervix Transitional cell carcinoma of the bladder Multiple myeloma Breast neoplasm Carcinoma of esophagus Gastric adenocarcinoma Squamous cell lung carcinoma Pancreatic adenocarcinoma Lung adenocarcinoma Neoplasm of brain Adrenal cortex carcinoma Squamous cell carcinoma of the head and neck Ovarian serous cystadenocarcinoma Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16603046	rs_1057519996	3 SubmittersRCV000420694 RCV000419605 RCV000423393 RCV000422403 RCV000424547 RCV000425633 RCV000427017 RCV000430299 RCV000433243 RCV000433123 RCV000435461 RCV000437675 RCV000437910 RCV000443063 RCV000442106 RCV000442467 RCV004022225 RCV003621532
NM_000546.6(TP53):c.394A>C (p.Lys132Gln)	SNV Germline/somatic	Chr17:7675218	Conflicting classifications of pathogenicity	Adrenal cortex carcinoma Gastric adenocarcinoma Neoplasm of uterine cervix Carcinoma of esophagus Squamous cell lung carcinoma Transitional cell carcinoma of the bladder Ovarian serous cystadenocarcinoma Uterine carcinosarcoma Neoplasm of brain Breast neoplasm Glioblastoma Lung adenocarcinoma Pancreatic adenocarcinoma Squamous cell carcinoma of the head and neck Neoplasm of the large intestine Multiple myeloma Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603047	rs_747342068	4 SubmittersRCV000419400 RCV000421029 RCV000419226 RCV000422568 RCV000427319 RCV000427528 RCV000429238 RCV000432840 RCV000432114 RCV000434062 RCV000436873 RCV000438684 RCV000440130 RCV000439934 RCV000442713 RCV000442639 RCV001205860 RCV003463827 RCV004022226
NM_000546.6(TP53):c.452C>G (p.Pro151Arg)	SNV Germline/somatic	Chr17:7675160	Pathogenic/Likely pathogenic	Pancreatic adenocarcinoma Transitional cell carcinoma of the bladder Neoplasm of the large intestine Squamous cell carcinoma of the head and neck Ovarian serous cystadenocarcinoma Gastric adenocarcinoma Hepatocellular carcinoma Multiple myeloma Neoplasm of brain Uterine carcinosarcoma Malignant melanoma of skin Malignant neoplasm of body of uterus Squamous cell lung carcinoma Lung adenocarcinoma Adenoid cystic carcinoma Carcinoma of esophagus Breast neoplasm Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603057	rs_1057520000	4 SubmittersRCV000418846 RCV000419325 RCV000419958 RCV000421526 RCV000424514 RCV000425600 RCV000423715 RCV000430235 RCV000431352 RCV000435893 RCV000434196 RCV000435439 RCV000436541 RCV000439174 RCV000441608 RCV000440477 RCV000443101 RCV000633382 RCV003168617 RCV004022232
NM_000546.6(TP53):c.451C>G (p.Pro151Ala)	SNV Germline/somatic	Chr17:7675161	Pathogenic	Breast neoplasm Uterine carcinosarcoma Neoplasm of the large intestine Neoplasm of brain Squamous cell carcinoma of the head and neck Multiple myeloma Hepatocellular carcinoma Squamous cell lung carcinoma Adenoid cystic carcinoma Pancreatic adenocarcinoma Malignant neoplasm of body of uterus Ovarian serous cystadenocarcinoma Malignant melanoma of skin Carcinoma of esophagus Transitional cell carcinoma of the bladder Lung adenocarcinoma Gastric adenocarcinoma Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16603058	rs_28934874	3 SubmittersRCV000418125 RCV000419693 RCV000420971 RCV000420838 RCV000425371 RCV000428371 RCV000426064 RCV000426471 RCV000431059 RCV000432886 RCV000431789 RCV000436762 RCV000437396 RCV000438632 RCV000441351 RCV000443299 RCV000443386 RCV000459465 RCV002338981
NM_000546.6(TP53):c.832C>T (p.Pro278Ser)	SNV Germline/somatic	Chr17:7673788	Pathogenic/Likely pathogenic	Squamous cell carcinoma of the skin Squamous cell carcinoma of the head and neck Malignant melanoma of skin Lung adenocarcinoma Carcinoma of esophagus Malignant neoplasm of body of uterus Ovarian serous cystadenocarcinoma Neoplasm of brain Squamous cell lung carcinoma Multiple myeloma Breast neoplasm Neoplasm of the large intestine Condition: not provided Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Pancreatic adenocarcinoma Neoplasm of ovary Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603059	rs_17849781	7 SubmittersRCV000421997 RCV000426679 RCV000427094 RCV000427714 RCV000432977 RCV000433428 RCV000437941 RCV000432228 RCV000442821 RCV000443572 RCV000435645 RCV000444293 RCV000522600 RCV000633344 RCV000562528 RCV000439725 RCV000785527 RCV004022233
NM_000546.6(TP53):c.832C>A (p.Pro278Thr)	SNV Germline/somatic	Chr17:7673788	Pathogenic/Likely pathogenic	Lung adenocarcinoma Malignant neoplasm of body of uterus Multiple myeloma Breast neoplasm Ovarian serous cystadenocarcinoma Squamous cell lung carcinoma Malignant melanoma of skin Neoplasm of brain Carcinoma of esophagus Neoplasm of the large intestine Pancreatic adenocarcinoma Squamous cell carcinoma of the head and neck Poly (ADP-Ribose) polymerase inhibitor response Neoplasm of ovary Squamous cell carcinoma of the skin Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603060	rs_17849781	6 SubmittersRCV000419944 RCV000418460 RCV000429755 RCV000425201 RCV000425878 RCV000429149 RCV000433992 RCV000436548 RCV000437214 RCV000435065 RCV000442861 RCV000440415 RCV000626445 RCV000785511 RCV000442983 RCV002429348 RCV002524698 RCV004022234
NM_000546.6(TP53):c.833C>G (p.Pro278Arg)	SNV Germline/somatic	Chr17:7673787	Conflicting classifications of pathogenicity	Neoplasm of the large intestine Squamous cell lung carcinoma Carcinoma of esophagus Malignant neoplasm of body of uterus Lung adenocarcinoma Ovarian serous cystadenocarcinoma Squamous cell carcinoma of the skin Pancreatic adenocarcinoma Malignant melanoma of skin Neoplasm of brain Multiple myeloma Squamous cell carcinoma of the head and neck Breast neoplasm Hereditary cancer-predisposing syndrome Condition: not provided Neoplasm of ovary Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603061	rs_876659802	7 SubmittersRCV000420956 RCV000424036 RCV000423863 RCV000431661 RCV000431945 RCV000425930 RCV000426582 RCV000431305 RCV000441126 RCV000432244 RCV000444083 RCV000443337 RCV000443990 RCV000572417 RCV000681956 RCV000785498 RCV000797363 RCV002289530
NM_000546.6(TP53):c.832C>G (p.Pro278Ala)	SNV Germline/somatic	Chr17:7673788	Conflicting classifications of pathogenicity	Squamous cell carcinoma of the skin Pancreatic adenocarcinoma Neoplasm of brain Squamous cell lung carcinoma Carcinoma of esophagus Squamous cell carcinoma of the head and neck Malignant melanoma of skin Ovarian serous cystadenocarcinoma Multiple myeloma Malignant neoplasm of body of uterus Neoplasm of the large intestine Lung adenocarcinoma Hereditary cancer-predisposing syndrome Breast neoplasm Li-Fraumeni syndrome Neoplasm of ovary Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603062	rs_17849781	6 SubmittersRCV000419216 RCV000417926 RCV000420739 RCV000422309 RCV000426460 RCV000427997 RCV000430547 RCV000433017 RCV000437350 RCV000438674 RCV000439356 RCV000437992 RCV000567850 RCV000441270 RCV000688854 RCV000785477 RCV001584114 RCV004022235
NM_000546.6(TP53):c.833C>A (p.Pro278His)	SNV Germline/somatic	Chr17:7673787	Conflicting classifications of pathogenicity	Neoplasm of brain Squamous cell lung carcinoma Pancreatic adenocarcinoma Carcinoma of esophagus Malignant melanoma of skin Squamous cell carcinoma of the head and neck Ovarian serous cystadenocarcinoma Squamous cell carcinoma of the skin Lung adenocarcinoma Multiple myeloma Neoplasm of the large intestine Li-Fraumeni syndrome Breast neoplasm Malignant neoplasm of body of uterus Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA16603063	rs_876659802	6 SubmittersRCV000417607 RCV000424797 RCV000420265 RCV000426301 RCV000422133 RCV000443564 RCV000433513 RCV000433712 RCV000435517 RCV000427682 RCV000428293 RCV000633329 RCV000437485 RCV000444453 RCV001017582 RCV002289531 RCV004567903
NM_000546.6(TP53):c.742C>G (p.Arg248Gly)	SNV Germline/somatic	Chr17:7674221	Pathogenic/Likely pathogenic	Uterine carcinosarcoma Pancreatic adenocarcinoma Breast neoplasm Neoplasm of the large intestine Squamous cell lung carcinoma Ovarian serous cystadenocarcinoma Multiple myeloma B-cell chronic lymphocytic leukemia Brainstem glioma Malignant melanoma of skin Squamous cell carcinoma of the head and neck Transitional cell carcinoma of the bladder Myelodysplastic syndrome Malignant neoplasm of body of uterus Small cell lung carcinoma Carcinoma of esophagus Acute myeloid leukemia Neoplasm of brain Prostate adenocarcinoma Hepatocellular carcinoma Gastric adenocarcinoma Medulloblastoma Glioblastoma Lung adenocarcinoma Squamous cell carcinoma of the skin Li-Fraumeni syndrome Carcinoma of colon Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603069	rs_121912651	5 SubmittersRCV000417693 RCV000418362 RCV000420498 RCV000422668 RCV000423297 RCV000425782 RCV000424776 RCV000425100 RCV000425394 RCV000427544 RCV000427948 RCV000430735 RCV000432931 RCV000432207 RCV000433611 RCV000435353 RCV000435050 RCV000436038 RCV000437882 RCV000441010 RCV000441711 RCV000440334 RCV000444356 RCV000444519 RCV000444427 RCV000633396 RCV000626118 RCV001026425 RCV004022238
NM_000546.6(TP53):c.818G>T (p.Arg273Leu)	SNV Germline/somatic	Chr17:7673802	Pathogenic	Pancreatic adenocarcinoma Neoplasm of brain Neoplasm of the large intestine Adrenal cortex carcinoma Squamous cell carcinoma of the head and neck Medulloblastoma B-cell chronic lymphocytic leukemia Brainstem glioma Lung adenocarcinoma Malignant neoplasm of body of uterus Acute myeloid leukemia Malignant melanoma of skin Multiple myeloma Prostate adenocarcinoma Carcinoma of esophagus Gastric adenocarcinoma Small cell lung carcinoma Squamous cell lung carcinoma Breast neoplasm Uterine carcinosarcoma Hepatocellular carcinoma Ovarian serous cystadenocarcinoma Hereditary cancer-predisposing syndrome Metastatic pancreatic neuroendocrine tumours Li-Fraumeni syndrome Neoplasm of ovary Transitional cell carcinoma of the bladder Glioblastoma Condition: not provided Li-Fraumeni syndrome 1 12 conditions	Criteria Provided Multiple Submitters No Conflicts	CA001530	rs_28934576	9 SubmittersRCV000418536 RCV000418738 RCV000423633 RCV000426132 RCV000421259 RCV000425890 RCV000423490 RCV000428692 RCV000423981 RCV000429444 RCV000433315 RCV000427314 RCV000436818 RCV000431067 RCV000434296 RCV000437048 RCV000435767 RCV000442241 RCV000438507 RCV000441792 RCV000434695 RCV000444109 RCV000568814 RCV000515526 RCV000822080 RCV000785524 RCV000444782 RCV000444989 RCV001539823 RCV002289534 RCV002502455
NM_000546.6(TP53):c.817C>A (p.Arg273Ser)	SNV Germline/somatic	Chr17:7673803	Pathogenic	Lung adenocarcinoma Glioblastoma Ovarian serous cystadenocarcinoma B-cell chronic lymphocytic leukemia Malignant neoplasm of body of uterus Hepatocellular carcinoma Neoplasm of brain Medulloblastoma Malignant melanoma of skin Squamous cell carcinoma of the head and neck Brainstem glioma Small cell lung carcinoma Carcinoma of esophagus Adrenal cortex carcinoma Multiple myeloma Prostate adenocarcinoma Pancreatic adenocarcinoma Squamous cell lung carcinoma Neoplasm of the large intestine Gastric adenocarcinoma Uterine carcinosarcoma Acute myeloid leukemia Breast neoplasm Transitional cell carcinoma of the bladder Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA001542	rs_121913343	5 SubmittersRCV000418085 RCV000420280 RCV000420482 RCV000422550 RCV000422795 RCV000424918 RCV000425669 RCV000427515 RCV000427884 RCV000431180 RCV000430119 RCV000431455 RCV000432372 RCV000435074 RCV000433489 RCV000435480 RCV000436543 RCV000438218 RCV000439774 RCV000440794 RCV000440997 RCV000444595 RCV000445287 RCV000445314 RCV000561782 RCV000698744 RCV002289535
NM_000546.6(TP53):c.815T>A (p.Val272Glu)	SNV Germline/somatic	Chr17:7673805	Conflicting classifications of pathogenicity	Squamous cell carcinoma of the head and neck Lung adenocarcinoma Neoplasm of the large intestine Malignant neoplasm of body of uterus Squamous cell carcinoma of the skin Medulloblastoma Gastric adenocarcinoma Li-Fraumeni syndrome Pancreatic adenocarcinoma Li-Fraumeni syndrome 1 Ovarian serous cystadenocarcinoma Transitional cell carcinoma of the bladder Multiple myeloma Papillary renal cell carcinoma type 1 Breast neoplasm	Criteria Provided Conflicting Classifications	CA16603087	rs_876660333	3 SubmittersRCV000424786 RCV000429369 RCV000434183 RCV000438331 RCV000440060 RCV000442953 RCV000444340 RCV001228585 RCV000421804 RCV004022247 RCV000422825 RCV000423493 RCV000427639 RCV000433521 RCV000442761
NM_000546.6(TP53):c.614A>G (p.Tyr205Cys)	SNV Germline/somatic	Chr17:7674917	Pathogenic	Hepatocellular carcinoma Papillary renal cell carcinoma type 1 Ovarian serous cystadenocarcinoma Squamous cell carcinoma of the head and neck Non-Hodgkin lymphoma Uterine carcinosarcoma Glioblastoma Malignant neoplasm of body of uterus Breast neoplasm Squamous cell lung carcinoma Pancreatic adenocarcinoma Neoplasm of the large intestine Multiple myeloma Lung adenocarcinoma Carcinoma of esophagus Neoplasm of brain Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603095	rs_1057520007	4 SubmittersRCV000422077 RCV000422980 RCV000427034 RCV000424901 RCV000427749 RCV000430410 RCV000431652 RCV000433236 RCV000432320 RCV000437968 RCV000437254 RCV000439980 RCV000440667 RCV000442863 RCV000443687 RCV000443828 RCV000704312 RCV002356520 RCV004022251
NM_000546.6(TP53):c.614A>T (p.Tyr205Phe)	SNV Somatic	Chr17:7674917	Likely pathogenic	Non-Hodgkin lymphoma Papillary renal cell carcinoma type 1 Malignant neoplasm of body of uterus Lung adenocarcinoma Breast neoplasm Neoplasm of brain Pancreatic adenocarcinoma Ovarian serous cystadenocarcinoma Squamous cell lung carcinoma Glioblastoma Squamous cell carcinoma of the head and neck Multiple myeloma Hepatocellular carcinoma Carcinoma of esophagus Neoplasm of the large intestine Uterine carcinosarcoma	No Assertion Criteria Provided	CA16603096	rs_1057520007	1 SubmittersRCV000418952 RCV000419588 RCV000421235 RCV000421916 RCV000424047 RCV000428672 RCV000426974 RCV000429233 RCV000429897 RCV000431494 RCV000434394 RCV000436627 RCV000439588 RCV000438926 RCV000443993 RCV000443853
NM_000546.6(TP53):c.614A>C (p.Tyr205Ser)	SNV Somatic	Chr17:7674917	Likely pathogenic	Glioblastoma Squamous cell carcinoma of the head and neck Papillary renal cell carcinoma type 1 Malignant neoplasm of body of uterus Breast neoplasm Carcinoma of esophagus Lung adenocarcinoma Ovarian serous cystadenocarcinoma Non-Hodgkin lymphoma Neoplasm of brain Multiple myeloma Hepatocellular carcinoma Pancreatic adenocarcinoma Uterine carcinosarcoma Squamous cell lung carcinoma Neoplasm of the large intestine	No Assertion Criteria Provided	CA16603097	rs_1057520007	1 SubmittersRCV000418906 RCV000417872 RCV000423862 RCV000424176 RCV000428105 RCV000426347 RCV000428760 RCV000430958 RCV000433698 RCV000436591 RCV000435531 RCV000437249 RCV000438368 RCV000441249 RCV000440868 RCV000443239
NM_000546.6(TP53):c.613T>A (p.Tyr205Asn)	SNV Germline/somatic	Chr17:7674918	Conflicting classifications of pathogenicity	Carcinoma of esophagus Papillary renal cell carcinoma type 1 Breast neoplasm Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Neoplasm of brain Ovarian serous cystadenocarcinoma Neoplasm of the large intestine Multiple myeloma Malignant neoplasm of body of uterus Glioblastoma Non-Hodgkin lymphoma Pancreatic adenocarcinoma Uterine carcinosarcoma Lung adenocarcinoma Squamous cell lung carcinoma Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16603098	rs_1057520008	6 SubmittersRCV000417461 RCV000419577 RCV000420753 RCV000422784 RCV000426051 RCV000424682 RCV000424892 RCV000430294 RCV000430575 RCV000432365 RCV000433474 RCV000435608 RCV000437987 RCV000441202 RCV000444368 RCV000444287 RCV000662621 RCV001024933 RCV001851022
NM_000546.6(TP53):c.613T>C (p.Tyr205His)	SNV Germline/somatic	Chr17:7674918	Pathogenic/Likely pathogenic	Pancreatic adenocarcinoma Multiple myeloma Neoplasm of brain Carcinoma of esophagus Glioblastoma Non-Hodgkin lymphoma Lung adenocarcinoma Uterine carcinosarcoma Hepatocellular carcinoma Papillary renal cell carcinoma type 1 Malignant neoplasm of body of uterus Ovarian serous cystadenocarcinoma Squamous cell carcinoma of the head and neck Neoplasm of the large intestine Squamous cell lung carcinoma Breast neoplasm Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603099	rs_1057520008	5 SubmittersRCV000419308 RCV000420368 RCV000421826 RCV000422887 RCV000424493 RCV000427755 RCV000426781 RCV000431739 RCV000431958 RCV000432726 RCV000437451 RCV000437587 RCV000439923 RCV000440094 RCV000443622 RCV000443753 RCV000819983 RCV000775886 RCV004022252
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp)	SNV Germline/somatic	Chr17:7674918	Conflicting classifications of pathogenicity	Lung adenocarcinoma Pancreatic adenocarcinoma Non-Hodgkin lymphoma Multiple myeloma Papillary renal cell carcinoma type 1 Breast neoplasm Squamous cell carcinoma of the head and neck Ovarian serous cystadenocarcinoma Uterine carcinosarcoma Hepatocellular carcinoma Malignant neoplasm of body of uterus Neoplasm of brain Squamous cell lung carcinoma Neoplasm of the large intestine Carcinoma of esophagus Glioblastoma Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA16603100	rs_1057520008	5 SubmittersRCV000421137 RCV000419128 RCV000423676 RCV000421350 RCV000426948 RCV000428535 RCV000428939 RCV000430021 RCV000434351 RCV000434446 RCV000438356 RCV000436740 RCV000439865 RCV000439629 RCV000444122 RCV000444873 RCV000462351 RCV000663307 RCV003441853
NM_206937.2(LIG4):c.712A>G (p.Ile238Val)	SNV Germline	Chr13:108210557	Conflicting classifications of pathogenicity	DNA ligase IV deficiency DNA ligase IV deficiency Multiple myeloma	Criteria Provided Conflicting Classifications		rs_149012859	4 SubmittersRCV000823935 RCV003224478
NM_078626.3(CDKN2C):c.230C>A (p.Ala77Glu)	SNV Somatic	Chr1:50973993	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_746646631	1 SubmittersRCV000984122
NM_001378414.1(HDAC4):c.1580C>T (p.Pro527Leu)	SNV Somatic	Chr2:239115264	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_372078034	1 SubmittersRCV000984097
NM_022552.5(DNMT3A):c.7G>T (p.Ala3Ser)	SNV Somatic	Chr2:25313978	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_745380962	1 SubmittersRCV000984105
NM_001287491.2(TET3):c.2362G>A (p.Glu788Lys)	SNV Somatic	Chr2:74048279	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_751524927	1 SubmittersRCV000984091
NM_016302.4(CRBN):c.1100A>T (p.Asn367Ile)	SNV Somatic	Chr3:3152504	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1575079076	1 SubmittersRCV000984098
NM_002447.4(MST1R):c.1477G>T (p.Asp493Tyr)	SNV Somatic	Chr3:49898938	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1575446356	1 SubmittersRCV000984099
NM_004656.4(BAP1):c.1787G>C (p.Ser596Thr)	SNV Somatic	Chr3:52403241	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1478603808	1 SubmittersRCV000984101
NM_001127208.3(TET2):c.1438C>T (p.Pro480Ser)	SNV Somatic	Chr4:105235380	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1578673280	1 SubmittersRCV000984111
NM_005245.4(FAT1):c.2668G>A (p.Glu890Lys)	SNV Somatic	Chr4:186707160	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1579484570	1 SubmittersRCV000984086
NM_005245.4(FAT1):c.720G>A (p.Met240Ile)	SNV Somatic	Chr4:186709108	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1579491104	1 SubmittersRCV000984107
NM_001143676.3(SGK1):c.1379A>G (p.Asn460Ser)	SNV Somatic	Chr6:134170860	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1171390403	1 SubmittersRCV000984130
NM_004690.4(LATS1):c.2449G>A (p.Glu817Lys)	SNV Somatic	Chr6:149680019	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1582867955	1 SubmittersRCV000984108
NM_003529.3(H3C1):c.400G>C (p.Glu134Gln)	SNV Somatic	Chr6:26020889	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_764264135	1 SubmittersRCV000984119
NM_005321.3(H1-4):c.133A>C (p.Thr45Pro)	SNV Somatic	Chr6:26156523	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_951047896	1 SubmittersRCV000984116
NM_003511.3(H2AC16):c.44C>G (p.Ala15Gly)	SNV Somatic	Chr6:27865398	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_890521687	1 SubmittersRCV000984102
NM_003514.2(H2AC17):c.364G>A (p.Glu122Lys)	SNV Somatic	Chr6:27892786	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1581495906	1 SubmittersRCV000984095
NM_170606.3(KMT2C):c.9181C>G (p.Gln3061Glu)	SNV Somatic	Chr7:152176272	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1587941402	1 SubmittersRCV000984093
NM_170606.3(KMT2C):c.9137T>C (p.Leu3046Pro)	SNV Somatic	Chr7:152176316	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1003155450	1 SubmittersRCV000984115
NM_002957.6(RXRA):c.671G>A (p.Ser224Asn)	SNV Somatic	Chr9:134417218	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1588299621	1 SubmittersRCV000984088
NM_001130145.3(YAP1):c.488C>G (p.Ser163Cys)	SNV Somatic	Chr11:102114310	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1591100766	1 SubmittersRCV000984109
NM_000051.4(ATM):c.5005G>A (p.Glu1669Lys)	SNV Somatic	Chr11:108297382	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1591693095	1 SubmittersRCV000984123
NM_005475.3(SH2B3):c.1087C>T (p.Pro363Ser)	SNV Somatic	Chr12:111447395	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1029296641	1 SubmittersRCV000984129
NM_006312.6(NCOR2):c.5909C>A (p.Ser1970Tyr)	SNV Somatic	Chr12:124336959	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1593107841	1 SubmittersRCV000984103
NM_004119.3(FLT3):c.1714T>C (p.Tyr572His)	SNV Somatic	Chr13:28034205	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1208575764	1 SubmittersRCV000984136
NM_014953.5(DIS3):c.2335A>T (p.Ile779Phe)	SNV Somatic	Chr13:72761930	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1593835248	1 SubmittersRCV000984121
NM_001079668.3(NKX2-1):c.436G>A (p.Ala146Thr)	SNV Somatic	Chr14:36519012	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1594406727	1 SubmittersRCV000984090
NM_002892.4(ARID4A):c.2614G>T (p.Glu872Ter)	SNV Somatic	Chr14:58364703	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1594966387	1 SubmittersRCV000984133
NM_001400225.1(MGA):c.3733G>C (p.Glu1245Gln)	SNV Somatic	Chr15:41729239	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1595889508	1 SubmittersRCV000984110
NM_004380.3(CREBBP):c.5188A>G (p.Ile1730Val)	SNV Somatic	Chr16:3729859	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1159294530	1 SubmittersRCV000984087
NM_001042492.3(NF1):c.5476C>A (p.His1826Asn)	SNV Somatic	Chr17:31327706	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1135402871	1 SubmittersRCV000984132
NM_001136139.4(TCF3):c.1693G>A (p.Ala565Thr)	SNV Somatic	Chr19:1612327	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1599413207	1 SubmittersRCV000984089
NM_005027.4(PIK3R2):c.572C>A (p.Ser191Ter)	SNV Somatic	Chr19:18161159	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1418268495	1 SubmittersRCV000984100
NM_005027.4(PIK3R2):c.850G>A (p.Val284Met)	SNV Somatic	Chr19:18162000	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1212577459	1 SubmittersRCV000984112
NM_006494.4(ERF):c.228G>A (p.Met76Ile)	SNV Somatic	Chr19:42250360	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1599824091	1 SubmittersRCV000984106
NM_015474.4(SAMHD1):c.259G>C (p.Glu87Gln)	SNV Somatic	Chr20:36946754	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1600394490	1 SubmittersRCV000984113
NM_198437.3(AURKA):c.1038C>A (p.Phe346Leu)	SNV Somatic	Chr20:56370332	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1455074519	1 SubmittersRCV000984118
NM_001379451.1(BCORL1):c.2242C>T (p.Gln748Ter)	SNV Somatic	ChrX:130015014	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1603113792	1 SubmittersRCV000984114
NM_001412.4(EIF1AX):c.295G>A (p.Glu99Lys)	SNV Somatic	ChrX:20132224	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1603415028	1 SubmittersRCV000984125
NM_004187.5(KDM5C):c.67G>T (p.Glu23Ter)	SNV Somatic	ChrX:53224823	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1602247047	1 SubmittersRCV000984096
NM_178129.5(P2RY8):c.869C>G (p.Pro290Arg)	SNV Somatic	ChrX:1465690	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1603452612	1 SubmittersRCV000984127
NM_178129.5(P2RY8):c.869C>G (p.Pro290Arg)	SNV Somatic	ChrY:1465690	Likely pathogenic	Multiple myeloma	No Assertion Criteria Provided		rs_1603452612	1 SubmittersRCV000984127
NM_206937.2(LIG4):c.1242A>C (p.Val414=)	SNV Germline	Chr13:108210027	Conflicting classifications of pathogenicity	DNA ligase IV deficiency DNA ligase IV deficiency Multiple myeloma	Criteria Provided Conflicting Classifications		rs_150828164	2 SubmittersRCV001027792 RCV003224505
NM_206937.2(LIG4):c.691C>T (p.Pro231Ser)	SNV Germline	Chr13:108210578	Conflicting classifications of pathogenicity	DNA ligase IV deficiency DNA ligase IV deficiency Multiple myeloma not specified	Criteria Provided Conflicting Classifications		rs_3093765	3 SubmittersRCV001035435 RCV002481849 RCV003151267