Total 200 pathogenic variants reported for Glioblastoma

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)	SNV Germline/somatic	Chr10:87957915	Pathogenic/Likely pathogenic	Cowden syndrome 1 PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Glioblastoma Macrocephaly-autism syndrome Breast neoplasm Neoplasm of the large intestine Condition: not provided Cowden syndrome Non-small cell lung carcinoma Neoplasm of ovary Abnormal cardiovascular system morphology Glioma susceptibility 2 Gastric cancer PTEN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA000549	rs_121909219	28 SubmittersRCV000008256 RCV000128455 RCV000162649 RCV000436969 RCV000477737 RCV000427583 RCV000434092 RCV000212882 RCV000678740 RCV000444248 RCV000785383 RCV001327980 RCV003466836 RCV003162216 RCV004532309
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln)	SNV Germline/somatic	Chr10:87933148	Pathogenic	Cowden syndrome 1 Hereditary cancer-predisposing syndrome Condition: not provided PTEN hamartoma tumor syndrome Neoplasm Gastric adenocarcinoma Glioblastoma Squamous cell lung carcinoma Prostate adenocarcinoma Malignant melanoma of skin Malignant neoplasm of body of uterus Neoplasm of uterine cervix Uterine carcinosarcoma Papillary renal cell carcinoma type 1 Small cell lung carcinoma Squamous cell carcinoma of the head and neck Neoplasm of the large intestine Neoplasm of ovary Breast neoplasm Cowden syndrome	Reviewed By Expert Panel	CA000437	rs_121909229	19 SubmittersRCV000008275 RCV000131067 RCV000212880 RCV000178761 RCV000419778 RCV000422627 RCV000435236 RCV000437651 RCV000420647 RCV000421074 RCV000432862 RCV000429864 RCV000432211 RCV000438720 RCV000439397 RCV000440076 RCV000420485 RCV000427853 RCV000429175 RCV002228017
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.733G>T (p.Gly245Cys)	SNV Germline/somatic	Chr17:7674230	Pathogenic	Li-Fraumeni syndrome 1 Condition: not provided Uterine carcinosarcoma Transitional cell carcinoma of the bladder Prostate adenocarcinoma Breast neoplasm Squamous cell carcinoma of the head and neck Carcinoma of esophagus Glioblastoma Hepatocellular carcinoma Pancreatic adenocarcinoma Hereditary cancer-predisposing syndrome Neoplasm of brain Lung adenocarcinoma Neoplasm of the large intestine Ovarian serous cystadenocarcinoma Gastric adenocarcinoma Squamous cell lung carcinoma Li-Fraumeni syndrome Brainstem glioma Breast and/or ovarian cancer	Criteria Provided Multiple Submitters No Conflicts	CA000369	rs_28934575	8 SubmittersRCV000013142 RCV000161025 RCV000417593 RCV000426090 RCV000430002 RCV000419737 RCV000436186 RCV000440197 RCV000425471 RCV000441334 RCV000428895 RCV000492412 RCV000440886 RCV000418673 RCV000443435 RCV000423577 RCV000424262 RCV000436330 RCV000633397 RCV000434535 RCV001271056
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr)	SNV Germline/somatic	Chr17:7674238	Pathogenic/Likely pathogenic	Li-fraumeni-like syndrome Hereditary cancer-predisposing syndrome Gastric adenocarcinoma Transitional cell carcinoma of the bladder Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Glioblastoma B-cell chronic lymphocytic leukemia Uterine carcinosarcoma Lung adenocarcinoma Li-Fraumeni syndrome Squamous cell lung carcinoma Neoplasm of ovary Breast neoplasm Carcinoma of esophagus Li-Fraumeni syndrome 1 Condition: not provided Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts	CA000361	rs_121912655	11 SubmittersRCV000013148 RCV000129809 RCV000419614 RCV000424935 RCV000432119 RCV000436867 RCV000442015 RCV000426292 RCV000430302 RCV000425602 RCV000231770 RCV000419041 RCV000785282 RCV000436295 RCV000440992 RCV002288484 RCV003314552 RCV002247332
NM_000546.6(TP53):c.734G>A (p.Gly245Asp)	SNV Germline/somatic	Chr17:7674229	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Prostate adenocarcinoma Glioblastoma Brainstem glioma Gastric adenocarcinoma Ovarian serous cystadenocarcinoma Breast neoplasm Neoplasm of brain Squamous cell carcinoma of the head and neck Pancreatic adenocarcinoma Lung adenocarcinoma Transitional cell carcinoma of the bladder Squamous cell lung carcinoma Li-Fraumeni syndrome Neoplasm of the large intestine Uterine carcinosarcoma Hepatocellular carcinoma Carcinoma of esophagus Neoplasm of ovary Condition: not provided Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000371	rs_121912656	10 SubmittersRCV000013149 RCV000164465 RCV000422520 RCV000427250 RCV000432021 RCV000444212 RCV000419718 RCV000421831 RCV000426192 RCV000429017 RCV000421349 RCV000436871 RCV000440814 RCV000444304 RCV000206683 RCV000431450 RCV000437916 RCV000439739 RCV000443515 RCV000785472 RCV000986053 RCV003473082
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.722C>T (p.Ser241Phe)	SNV Germline/somatic	Chr17:7674241	Pathogenic/Likely pathogenic	Hepatoblastoma Bone osteosarcoma Hereditary cancer-predisposing syndrome Non-Hodgkin lymphoma Brainstem glioma Uterine carcinosarcoma Papillary renal cell carcinoma, sporadic Neoplasm of brain Gallbladder carcinoma Squamous cell carcinoma of the skin Carcinoma of esophagus Breast neoplasm Malignant neoplasm of body of uterus Malignant melanoma of skin Neoplasm of the large intestine Pancreatic adenocarcinoma Ovarian serous cystadenocarcinoma Squamous cell carcinoma of the head and neck Lung adenocarcinoma Glioblastoma Transitional cell carcinoma of the bladder Papillary renal cell carcinoma type 1 Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Neoplasm of ovary 12 conditions Lip and oral cavity carcinoma Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA000359	rs_28934573	11 SubmittersRCV000013153 RCV000013154 RCV000130168 RCV000418653 RCV000421750 RCV000426907 RCV000430665 RCV000433125 RCV000441622 RCV000417576 RCV000422867 RCV000423921 RCV000435867 RCV000429321 RCV000436959 RCV000438965 RCV000441398 RCV000426268 RCV000428255 RCV000434173 RCV000436527 RCV000444801 RCV000559355 RCV002288485 RCV000785290 RCV002496336 RCV001255673 RCV003114189
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)	SNV Germline/somatic	Chr17:7673776	Pathogenic/Likely pathogenic	Li-fraumeni-like syndrome Li-Fraumeni syndrome 1 Li-Fraumeni syndrome Condition: not provided Non-Hodgkin lymphoma Malignant melanoma of skin Glioblastoma Prostate adenocarcinoma Breast neoplasm Gastric adenocarcinoma Squamous cell carcinoma of the head and neck Papillary renal cell carcinoma type 1 Malignant neoplasm of body of uterus Ovarian serous cystadenocarcinoma Transitional cell carcinoma of the bladder Squamous cell lung carcinoma Lung adenocarcinoma Neoplasm of the large intestine Hepatocellular carcinoma Carcinoma of esophagus Neoplasm of brain Hereditary cancer-predisposing syndrome Neoplasm of ovary Pleomorphic xanthoastrocytoma Astrocytoma, anaplastic Squamous cell carcinoma of the skin Pancreatic adenocarcinoma Colorectal cancer Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000454	rs_28934574	31 SubmittersRCV000013161 RCV000144670 RCV000148905 RCV000236400 RCV000417906 RCV000420798 RCV000422920 RCV000426680 RCV000433225 RCV000435581 RCV000441472 RCV000442231 RCV000444687 RCV000425909 RCV000432561 RCV000423580 RCV000437607 RCV000430759 RCV000431084 RCV000436175 RCV000444544 RCV000210145 RCV000785546 RCV000722016 RCV000424430 RCV000434706 RCV001270278 RCV003315223 RCV004566738
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)	SNV Germline/somatic	Chr17:7674230	Pathogenic	Li-fraumeni-like syndrome Adenocarcinoma Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Lung adenocarcinoma Transitional cell carcinoma of the bladder Ovarian serous cystadenocarcinoma Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Carcinoma of esophagus Brainstem glioma Squamous cell lung carcinoma Neoplasm of brain Gastric adenocarcinoma Pancreatic adenocarcinoma Li-Fraumeni syndrome Atypical teratoid rhabdoid tumor Astrocytoma, anaplastic Prostate adenocarcinoma Glioblastoma Neoplasm Breast neoplasm Hepatocellular carcinoma Neoplasm of the large intestine Neoplasm of ovary Familial ovarian cancer Breast carcinoma Colorectal cancer 12 conditions Malignant tumor of urinary bladder Adrenocortical carcinoma, hereditary Gastric cancer TP53-related disorder Xeroderma pigmentosum Multiple acyl-CoA dehydrogenase deficiency	Reviewed By Expert Panel	CA000367	rs_28934575	31 SubmittersRCV000013162 RCV000148909 RCV000154014 RCV000130147 RCV000144669 RCV000421457 RCV000432898 RCV000442506 RCV000419767 RCV000426307 RCV000428113 RCV000438107 RCV000426990 RCV000430925 RCV000432120 RCV000437643 RCV000226657 RCV000587017 RCV000588736 RCV000417419 RCV000420452 RCV000425581 RCV000436979 RCV000438801 RCV000442529 RCV000785316 RCV001354825 RCV001642222 RCV001270274 RCV002496337 RCV003332080 RCV003460464 RCV003162245 RCV003914832 RCV004540999 RCV004526594
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.659A>C (p.Tyr220Ser)	SNV Germline/somatic	Chr17:7674872	Pathogenic	Li-Fraumeni syndrome 1 Breast neoplasm Malignant neoplasm of body of uterus Neoplasm of the large intestine Hepatocellular carcinoma Pancreatic adenocarcinoma Papillary renal cell carcinoma type 1 Malignant melanoma of skin Ovarian serous cystadenocarcinoma Transitional cell carcinoma of the bladder Papillary renal cell carcinoma, sporadic Glioblastoma Gastric adenocarcinoma Li-Fraumeni syndrome Squamous cell lung carcinoma Lung adenocarcinoma Neoplasm of ovary Squamous cell carcinoma of the head and neck Prostate adenocarcinoma Small cell lung carcinoma Uterine carcinosarcoma Neoplasm of brain Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA000314	rs_121912666	6 SubmittersRCV000013183 RCV000429097 RCV000435597 RCV000441465 RCV000423167 RCV000424238 RCV000417473 RCV000432708 RCV000425300 RCV000436486 RCV000441285 RCV000444276 RCV000445060 RCV000472593 RCV000418406 RCV000422874 RCV000785481 RCV000425801 RCV000428157 RCV000430581 RCV000433786 RCV000443214 RCV003162249
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.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_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	SNV Germline/somatic	Chr3:179234297	Pathogenic	Breast adenocarcinoma OVARIAN CANCER, EPITHELIAL, SOMATIC Carcinoma of colon Hepatocellular carcinoma Non-small cell lung carcinoma Seborrheic keratosis CLOVES syndrome Neoplasm of ovary PIK3CA related overgrowth syndrome Malignant melanoma of skin Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix Pancreatic adenocarcinoma Brainstem glioma Squamous cell lung carcinoma Medulloblastoma Lung adenocarcinoma Neoplasm of the large intestine Transitional cell carcinoma of the bladder Uterine carcinosarcoma Adrenal cortex carcinoma Malignant neoplasm of body of uterus Glioblastoma Neoplasm of brain Papillary renal cell carcinoma type 1 Carcinoma of esophagus Breast neoplasm Neoplasm Squamous cell carcinoma of the head and neck Gastric adenocarcinoma Prostate adenocarcinoma Rosette-forming glioneuronal tumor MACRODACTYLY, SOMATIC Condition: not provided Lip and oral cavity carcinoma Abnormal cardiovascular system morphology Congenital macrodactylia Megalencephaly-capillary malformation-polymicrogyria syndrome Segmental undergrowth associated with mainly venous malformation with capillary component Segmental undergrowth associated with lymphatic malformation CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC CLAPO syndrome Cerebrofacial Vascular Metameric Syndrome (CVMS) Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Breast carcinoma Gastric cancer Klippel-Trenaunay-like-Syndrome Rare venous malformation Rare combined vascular malformation	Reviewed By Expert Panel	CA123326	rs_121913279	27 SubmittersRCV000014622 RCV000014623 RCV000014624 RCV000014626 RCV000014627 RCV000014628 RCV000024621 RCV000154516 RCV000201231 RCV000419938 RCV000432506 RCV000442164 RCV000420562 RCV000426498 RCV000426614 RCV000421855 RCV000422442 RCV000437153 RCV000428372 RCV000425956 RCV000431232 RCV000430589 RCV000442731 RCV000432543 RCV000433127 RCV000437782 RCV000436234 RCV000438435 RCV000437287 RCV000443546 RCV000442736 RCV000487449 RCV000709691 RCV001092442 RCV001255686 RCV001327968 RCV001526648 RCV001807727 RCV001705589 RCV001705590 RCV001728091 RCV001729349 RCV001730472 RCV001836707 RCV003128082 RCV002508124 RCV003325939 RCV004527290 RCV004527291
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)	SNV Germline/somatic	Chr3:179234297	Pathogenic	Breast adenocarcinoma CLOVES syndrome PIK3CA related overgrowth syndrome Pancreatic adenocarcinoma Transitional cell carcinoma of the bladder Uterine carcinosarcoma Neoplasm of the large intestine Neoplasm of uterine cervix Breast neoplasm Gastric adenocarcinoma Medulloblastoma Prostate adenocarcinoma Squamous cell lung carcinoma Papillary renal cell carcinoma type 1 Neoplasm of ovary Malignant melanoma of skin Brainstem glioma Malignant neoplasm of body of uterus Neoplasm of brain Ovarian serous cystadenocarcinoma Lung adenocarcinoma Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Carcinoma of esophagus Non-small cell lung carcinoma Adrenal cortex carcinoma Glioblastoma CLAPO syndrome Stroke disorder Macrodactyly of toe Cowden syndrome 1 Hemihypertrophy Megalencephaly-capillary malformation-polymicrogyria syndrome Colorectal cancer CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC Condition: not provided Cavernous lymphangioma	Criteria Provided Multiple Submitters No Conflicts	CA123328	rs_121913279	12 SubmittersRCV000014629 RCV000032905 RCV000201235 RCV000417557 RCV000429614 RCV000433765 RCV000438270 RCV000439524 RCV000440269 RCV000443341 RCV000418190 RCV000418315 RCV000423706 RCV000425496 RCV000422323 RCV000424813 RCV000442340 RCV000434874 RCV000443510 RCV000435425 RCV000435543 RCV000423048 RCV000427278 RCV000427664 RCV000428229 RCV000428866 RCV000434398 RCV000709692 RCV000626894 RCV000987367 RCV001526597 RCV001253236 RCV001807728 RCV001728092 RCV002254265 RCV004527292
NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu)	SNV Somatic	Chr3:179218306	Pathogenic/Likely pathogenic	Breast adenocarcinoma Neoplasm of uterine cervix Malignant melanoma of skin Glioblastoma Transitional cell carcinoma of the bladder Uterine carcinosarcoma Breast neoplasm Medulloblastoma Neoplasm of brain Neoplasm of the large intestine Malignant neoplasm of body of uterus Squamous cell carcinoma of the head and neck Gastric adenocarcinoma Prostate adenocarcinoma	No Assertion Criteria Provided	CA123331	rs_121913286	2 SubmittersRCV000014630 RCV000421157 RCV000420029 RCV000421383 RCV000422486 RCV000427915 RCV000431151 RCV000432772 RCV000432516 RCV000437696 RCV000439013 RCV000441411 RCV000441934 RCV000442905
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)	SNV Germline/somatic	Chr3:179218303	Pathogenic/Likely pathogenic	Breast adenocarcinoma OVARIAN CANCER, EPITHELIAL, SOMATIC Carcinoma of colon Seborrheic keratosis Non-small cell lung carcinoma Megalencephaly-capillary malformation-polymicrogyria syndrome Sarcoma Squamous cell carcinoma of the head and neck Papillary renal cell carcinoma type 1 Neoplasm of ovary Ovarian serous cystadenocarcinoma Small cell lung carcinoma Glioblastoma Gastric adenocarcinoma Uterine carcinosarcoma Squamous cell lung carcinoma Prostate adenocarcinoma Pancreatic adenocarcinoma Carcinoma of esophagus Transitional cell carcinoma of the bladder Nasopharyngeal neoplasm Hepatocellular carcinoma Malignant neoplasm of body of uterus Neoplasm of uterine cervix Gallbladder carcinoma Neoplasm of the large intestine Breast neoplasm Malignant melanoma of skin Papillary renal cell carcinoma, sporadic Brainstem glioma Lung adenocarcinoma Neoplasm of brain Condition: not provided CLOVES syndrome PIK3CA related overgrowth syndrome Segmental undergrowth associated with lymphatic malformation Gallbladder cancer Abnormal cardiovascular system morphology Eccrine Angiomatous Hamartoma Cerebrofacial Vascular Metameric Syndrome (CVMS) HEMIFACIAL MYOHYPERPLASIA, SOMATIC Gastric cancer Angioosteohypertrophic syndrome Rare venous malformation Rare combined vascular malformation	Criteria Provided Multiple Submitters No Conflicts	CA123334	rs_104886003	19 SubmittersRCV000014631 RCV000014632 RCV000014633 RCV000014636 RCV000038671 RCV000055930 RCV000119356 RCV000421583 RCV000421958 RCV000422210 RCV000426520 RCV000433976 RCV000438445 RCV000440694 RCV000441866 RCV000418058 RCV000417835 RCV000420851 RCV000423327 RCV000427202 RCV000428639 RCV000437876 RCV000425490 RCV000429391 RCV000438060 RCV000438587 RCV000431416 RCV000432636 RCV000433152 RCV000441949 RCV000440053 RCV000442569 RCV001092440 RCV001262721 RCV001290591 RCV001705591 RCV001374447 RCV001327963 RCV001786329 RCV001730473 RCV003764575 RCV002508125 RCV004527293 RCV004527294 RCV004527295
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly)	SNV Somatic	Chr3:179218304	Pathogenic	Epidermal nevus Carcinoma of colon Lung adenocarcinoma Transitional cell carcinoma of the bladder Carcinoma of esophagus Papillary renal cell carcinoma type 1 Breast neoplasm Gastric adenocarcinoma Squamous cell lung carcinoma Glioblastoma Pancreatic adenocarcinoma Papillary renal cell carcinoma, sporadic Melanoma Nasopharyngeal neoplasm Prostate adenocarcinoma Malignant neoplasm of body of uterus Squamous cell carcinoma of the head and neck Neoplasm of the large intestine Small cell lung carcinoma Neoplasm of uterine cervix Malignant melanoma of skin Gallbladder carcinoma Neoplasm of brain Ovarian serous cystadenocarcinoma Hepatocellular carcinoma Brainstem glioma Uterine carcinosarcoma PIK3CA related overgrowth syndrome	Criteria Provided Single Submitter	CA123336	rs_121913274	3 SubmittersRCV000014638 RCV000014637 RCV000418099 RCV000418752 RCV000419402 RCV000423395 RCV000427900 RCV000427099 RCV000429420 RCV000429663 RCV000434718 RCV000434929 RCV000433665 RCV000422071 RCV000435973 RCV000439693 RCV000424828 RCV000438613 RCV000440826 RCV000443425 RCV000439270 RCV000418146 RCV000418281 RCV000442411 RCV000424637 RCV000429485 RCV000433644 RCV004562209
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys)	SNV Germline/somatic	Chr3:179218306	Conflicting classifications of pathogenicity	Carcinoma of colon OVARIAN CANCER, EPITHELIAL, SOMATIC Malignant tumor of prostate PIK3CA related overgrowth syndrome Prostate adenocarcinoma Malignant melanoma of skin Neoplasm of ovary Squamous cell carcinoma of the head and neck Gastric adenocarcinoma Neoplasm of the large intestine Transitional cell carcinoma of the bladder Neoplasm of brain Malignant neoplasm of body of uterus Glioblastoma Uterine carcinosarcoma Medulloblastoma Breast neoplasm Neoplasm of uterine cervix Lung carcinoma Condition: not provided Segmental undergrowth associated with mainly venous malformation with capillary component	Criteria Provided Conflicting Classifications	CA123338	rs_121913286	8 SubmittersRCV000014640 RCV000014639 RCV000205164 RCV000201230 RCV000425454 RCV000430641 RCV000436582 RCV000442123 RCV000442141 RCV000424106 RCV000426539 RCV000431780 RCV000431921 RCV000419967 RCV000436763 RCV000421680 RCV000441825 RCV000443162 RCV000430236 RCV001762046 RCV001705592
NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala)	SNV Somatic	Chr3:179218304	Pathogenic	Hepatocellular carcinoma Neoplasm of ovary Small cell lung carcinoma Gallbladder carcinoma Squamous cell lung carcinoma Neoplasm of uterine cervix Squamous cell carcinoma of the head and neck Gastric adenocarcinoma Malignant neoplasm of body of uterus Papillary renal cell carcinoma type 1 Neoplasm of the large intestine Ovarian serous cystadenocarcinoma Lung adenocarcinoma Glioblastoma Uterine carcinosarcoma Neoplasm of brain Malignant melanoma of skin Breast neoplasm Papillary renal cell carcinoma, sporadic Brainstem glioma Carcinoma of esophagus Nasopharyngeal neoplasm Prostate adenocarcinoma Transitional cell carcinoma of the bladder Pancreatic adenocarcinoma Abnormal cardiovascular system morphology	Criteria Provided Single Submitter	CA123342	rs_121913274	4 SubmittersRCV000014643 RCV000154515 RCV000419838 RCV000423900 RCV000428526 RCV000435323 RCV000436993 RCV000438145 RCV000439842 RCV000420012 RCV000425497 RCV000427271 RCV000433952 RCV000429810 RCV000431799 RCV000439182 RCV000420659 RCV000437065 RCV000421111 RCV000441159 RCV000441944 RCV000442696 RCV000427464 RCV000431339 RCV000432424 RCV001327964
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_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_005228.5(EGFR):c.2155G>T (p.Gly719Cys)	SNV Somatic	Chr7:55174014	Pathogenic/Likely pathogenic; drug response	Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic Non-small cell lung carcinoma Glioblastoma Lung adenocarcinoma	No Assertion Criteria Provided	CA126719	rs_28929495	3 SubmittersRCV000018086 RCV000038380 RCV000426731 RCV000433465
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)	SNV Germline/somatic	Chr3:179218294	Pathogenic	CLOVES syndrome Neoplasm of ovary Non-small cell lung carcinoma Condition: not provided Small cell lung carcinoma Neoplasm of the large intestine Squamous cell lung carcinoma Transitional cell carcinoma of the bladder Lung adenocarcinoma Breast neoplasm Carcinoma of esophagus Malignant neoplasm of body of uterus Gastric adenocarcinoma Prostate adenocarcinoma Neoplasm of brain Glioblastoma Squamous cell carcinoma of the head and neck Neoplasm of uterine cervix Papillary renal cell carcinoma, sporadic Hepatocellular carcinoma CLAPO syndrome Lip and oral cavity carcinoma CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC Abnormal cardiovascular system morphology Cerebrofacial Vascular Metameric Syndrome (CVMS) Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Cowden syndrome PIK3CA-related overgrowth PIK3CA-related disorder PIK3CA related overgrowth syndrome HEMIFACIAL MYOHYPERPLASIA, SOMATIC Rare venous malformation	Reviewed By Expert Panel	CA333572	rs_121913273	17 SubmittersRCV000024622 RCV000151649 RCV000154513 RCV000416776 RCV000431000 RCV000431872 RCV000436932 RCV000438815 RCV000441707 RCV000442348 RCV000419905 RCV000420078 RCV000419440 RCV000426691 RCV000421639 RCV000433007 RCV000425548 RCV000430763 RCV000435811 RCV000445059 RCV000709693 RCV001255687 RCV001728093 RCV001327962 RCV001730477 RCV001836714 RCV002513230 RCV003987334 RCV004532404 RCV003458190 RCV003764635 RCV004527296
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)	SNV Germline/somatic	Chr3:179234296	Pathogenic	Megalencephaly-capillary malformation-polymicrogyria syndrome Non-small cell lung carcinoma Gastric adenocarcinoma Lung adenocarcinoma Ovarian serous cystadenocarcinoma Neoplasm of the large intestine Adrenal cortex carcinoma Malignant neoplasm of body of uterus Squamous cell lung carcinoma Malignant melanoma of skin Brainstem glioma Squamous cell carcinoma of the head and neck Pancreatic adenocarcinoma Hepatocellular carcinoma Malignant tumor of floor of mouth Glioblastoma Transitional cell carcinoma of the bladder Cowden syndrome Medulloblastoma Prostate adenocarcinoma Neoplasm of brain Carcinoma of esophagus Uterine carcinosarcoma Neoplasm of uterine cervix Breast neoplasm Papillary renal cell carcinoma type 1 13 conditions Condition: not provided Segmental undergrowth associated with mainly venous malformation with capillary component CLOVES syndrome PIK3CA related overgrowth syndrome HEMIFACIAL MYOHYPERPLASIA, SOMATIC	Criteria Provided Multiple Submitters No Conflicts	CA130471	rs_121913281	13 SubmittersRCV000032909 RCV000038675 RCV000425119 RCV000432323 RCV000436090 RCV000441963 RCV000444680 RCV000423369 RCV000425540 RCV000425809 RCV000435399 RCV000440398 RCV000441716 RCV000418438 RCV000420550 RCV000428005 RCV000435124 RCV000698423 RCV000417782 RCV000422744 RCV000424877 RCV000430750 RCV000432906 RCV000433635 RCV000441028 RCV000442782 RCV000763508 RCV001092441 RCV001705625 RCV002226661 RCV003233079 RCV003882732
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_005228.5(EGFR):c.2156G>C (p.Gly719Ala)	SNV Germline/somatic	Chr7:55174015	Pathogenic	Non-small cell lung carcinoma Glioblastoma Lung adenocarcinoma	Criteria Provided Single Submitter	CA135775	rs_121913428	3 SubmittersRCV000038381 RCV000426037 RCV000436293
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg)	SNV Somatic	Chr3:179218307	Pathogenic	Neoplasm of ovary Neoplasm of uterine cervix Uterine carcinosarcoma Breast neoplasm Medulloblastoma Neoplasm of the large intestine Gastric adenocarcinoma Malignant melanoma of skin Neoplasm of brain Malignant neoplasm of body of uterus Transitional cell carcinoma of the bladder Prostate adenocarcinoma Squamous cell carcinoma of the head and neck Glioblastoma Abnormal cardiovascular system morphology Condition: not provided PIK3CA related overgrowth syndrome	Criteria Provided Multiple Submitters No Conflicts	CA136371	rs_397517201	6 SubmittersRCV000038672 RCV000417964 RCV000427826 RCV000439651 RCV000442332 RCV000422863 RCV000435640 RCV000440779 RCV000443308 RCV000423116 RCV000424486 RCV000434246 RCV000434598 RCV000433168 RCV001327965 RCV002254273 RCV003458193
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_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys)	SNV Germline/somatic	Chr16:3738617	Conflicting classifications of pathogenicity	Condition: not provided Hepatocellular carcinoma Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma Malignant melanoma of skin Gastric adenocarcinoma Glioblastoma Adenoid cystic carcinoma Transitional cell carcinoma of the bladder Medulloblastoma Neoplasm of uterine cervix Neoplasm of the large intestine Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome	Criteria Provided Conflicting Classifications	CA222695	rs_398124146	4 SubmittersRCV000081052 RCV000433226 RCV000441267 RCV000442404 RCV000443206 RCV000426447 RCV000426681 RCV000434703 RCV000436055 RCV000418574 RCV000423556 RCV000425760 RCV000700948 RCV002228327
NM_000546.6(TP53):c.535C>T (p.His179Tyr)	SNV Germline/somatic	Chr17:7675077	Pathogenic/Likely pathogenic	Condition: not provided Glioblastoma Ovarian serous cystadenocarcinoma Neoplasm of the large intestine Uterine carcinosarcoma Small cell lung carcinoma Squamous cell carcinoma of the head and neck Neoplasm of brain Lung adenocarcinoma Squamous cell carcinoma of the skin Pancreatic adenocarcinoma Malignant melanoma of skin Malignant neoplasm of body of uterus Gallbladder carcinoma Carcinoma of esophagus Hepatocellular carcinoma Squamous cell lung carcinoma Gastric adenocarcinoma Acute myeloid leukemia Breast neoplasm Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Neoplasm of ovary Hereditary cancer-predisposing syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000256	rs_587780070	9 SubmittersRCV000115726 RCV000419735 RCV000431087 RCV000434379 RCV000436304 RCV000424007 RCV000424716 RCV000427283 RCV000444227 RCV000419024 RCV000430411 RCV000434725 RCV000435360 RCV000436095 RCV000440222 RCV000441827 RCV000423020 RCV000423688 RCV000428854 RCV000444364 RCV000555493 RCV000663095 RCV000785312 RCV002288597 RCV003460828
NM_000546.6(TP53):c.580C>T (p.Leu194Phe)	SNV Germline/somatic	Chr17:7674951	Pathogenic/Likely pathogenic	Condition: not provided Glioblastoma Breast neoplasm Ovarian serous cystadenocarcinoma Neoplasm of uterine cervix Pancreatic adenocarcinoma Lung adenocarcinoma Neoplasm of brain Neoplasm of the large intestine Hepatocellular carcinoma Transitional cell carcinoma of the bladder Squamous cell carcinoma of the head and neck Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Adrenal cortex carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA000278	rs_587780071	7 SubmittersRCV000115728 RCV000419908 RCV000417813 RCV000418414 RCV000421548 RCV000426684 RCV000428029 RCV000429595 RCV000439186 RCV000434383 RCV000436065 RCV000439843 RCV001377420 RCV002288599 RCV002288598 RCV003997297
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)	SNV Germline/somatic	Chr17:7674872	Pathogenic	Hereditary cancer-predisposing syndrome Transitional cell carcinoma of the bladder Prostate adenocarcinoma Uterine carcinosarcoma Acute myeloid leukemia Condition: not provided Glioblastoma Ovarian serous cystadenocarcinoma Papillary renal cell carcinoma, sporadic Papillary renal cell carcinoma type 1 Malignant neoplasm of body of uterus Breast neoplasm Malignant melanoma of skin Neoplasm of the large intestine Li-Fraumeni syndrome Squamous cell carcinoma of the head and neck Gastric adenocarcinoma Neoplasm of brain Small cell lung carcinoma Squamous cell lung carcinoma Hepatocellular carcinoma Pancreatic adenocarcinoma Lung adenocarcinoma Neoplasm of ovary B-cell chronic lymphocytic leukemia 12 conditions Li-Fraumeni syndrome 1 Breast carcinoma Adrenocortical carcinoma, hereditary Gastric cancer TP53-related disorder Adrenal cortex carcinoma	Reviewed By Expert Panel	CA000315	rs_121912666	24 SubmittersRCV000115731 RCV000428097 RCV000434614 RCV000436553 RCV000439645 RCV000213055 RCV000417417 RCV000418951 RCV000428791 RCV000423029 RCV000423111 RCV000423624 RCV000425869 RCV000444717 RCV000232050 RCV000433936 RCV000434300 RCV000435063 RCV000444814 RCV000425193 RCV000439456 RCV000440244 RCV000442230 RCV000785544 RCV001527468 RCV002490776 RCV001310212 RCV001579295 RCV003460829 RCV003162539 RCV003407499 RCV003997298
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys)	SNV Germline/somatic	Chr17:7674262	Pathogenic/Likely pathogenic	Condition: not provided Li-Fraumeni syndrome Glioblastoma Hepatocellular carcinoma Gastric adenocarcinoma Small cell lung carcinoma Neoplasm of the large intestine Transitional cell carcinoma of the bladder Prostate adenocarcinoma Pancreatic adenocarcinoma Ovarian serous cystadenocarcinoma Squamous cell lung carcinoma Hereditary cancer-predisposing syndrome Breast neoplasm Carcinoma of esophagus Adrenal cortex carcinoma Squamous cell carcinoma of the head and neck Neoplasm of ovary Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000337	rs_587780073	10 SubmittersRCV000115732 RCV000200601 RCV000420460 RCV000430670 RCV000444325 RCV000444475 RCV000425220 RCV000425854 RCV000432406 RCV000433924 RCV000435287 RCV000445147 RCV000492245 RCV000420651 RCV000422171 RCV000435258 RCV000438314 RCV000785536 RCV001808343
NM_000546.6(TP53):c.638G>A (p.Arg213Gln)	SNV Germline/somatic	Chr17:7674893	Pathogenic	Li-Fraumeni syndrome not specified Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Squamous cell carcinoma of the skin Glioblastoma Carcinoma of esophagus Neoplasm of the large intestine Adrenal cortex carcinoma Condition: not provided Malignant melanoma of skin Prostate adenocarcinoma Lung adenocarcinoma Breast neoplasm Malignant neoplasm of body of uterus Adenoid cystic carcinoma Papillary renal cell carcinoma type 1 Ovarian serous cystadenocarcinoma Gastric adenocarcinoma Neoplasm of brain Pancreatic adenocarcinoma Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Uterine carcinosarcoma Nasopharyngeal neoplasm Transitional cell carcinoma of the bladder Squamous cell lung carcinoma Poly (ADP-Ribose) polymerase inhibitor response Lip and oral cavity carcinoma Breast and/or ovarian cancer Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000302	rs_587778720	23 SubmittersRCV000123099 RCV000122176 RCV000130072 RCV000144664 RCV000420459 RCV000420595 RCV000424188 RCV000430755 RCV000441015 RCV000420734 RCV000428223 RCV000430946 RCV000432016 RCV000436981 RCV000443346 RCV000444201 RCV000425846 RCV000427005 RCV000430601 RCV000438230 RCV000438582 RCV000419636 RCV000420908 RCV000422008 RCV000432438 RCV000437236 RCV000444077 RCV000626448 RCV001255672 RCV001798386 RCV003460862
NM_000546.6(TP53):c.844C>G (p.Arg282Gly)	SNV Germline/somatic	Chr17:7673776	Pathogenic	Hereditary cancer-predisposing syndrome Pancreatic adenocarcinoma Lung adenocarcinoma Carcinoma of esophagus Squamous cell carcinoma of the skin Transitional cell carcinoma of the bladder Papillary renal cell carcinoma type 1 Prostate adenocarcinoma Neoplasm of brain Glioblastoma Breast neoplasm Squamous cell carcinoma of the head and neck Malignant neoplasm of body of uterus Gastric adenocarcinoma Squamous cell lung carcinoma Ovarian serous cystadenocarcinoma Non-Hodgkin lymphoma Hepatocellular carcinoma Malignant melanoma of skin Neoplasm of the large intestine Neoplasm of ovary Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000453	rs_28934574	5 SubmittersRCV000129010 RCV000422367 RCV000422134 RCV000422747 RCV000435503 RCV000437895 RCV000440653 RCV000430047 RCV000419993 RCV000425179 RCV000437219 RCV000442540 RCV000430393 RCV000431764 RCV000432433 RCV000442627 RCV000419333 RCV000427647 RCV000440446 RCV000445294 RCV000785299 RCV001380073 RCV002288620
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_000546.6(TP53):c.745A>T (p.Arg249Trp)	SNV Germline/somatic	Chr17:7674218	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Prostate adenocarcinoma Malignant neoplasm of body of uterus Small cell lung carcinoma Carcinoma of esophagus Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Lung adenocarcinoma Pancreatic adenocarcinoma Squamous cell carcinoma of the skin Ovarian serous cystadenocarcinoma Hepatocellular carcinoma Gastric adenocarcinoma Squamous cell lung carcinoma Acute myeloid leukemia Glioblastoma Medulloblastoma Li-Fraumeni syndrome Condition: not provided Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000389	rs_587782082	6 SubmittersRCV000130578 RCV000431276 RCV000432948 RCV000435888 RCV000417537 RCV000443796 RCV000418238 RCV000423307 RCV000433563 RCV000435249 RCV000424980 RCV000426167 RCV000444809 RCV000425504 RCV000432429 RCV000434278 RCV000440994 RCV002514731 RCV003237740 RCV003460931 RCV004019741
NM_000314.8(PTEN):c.389G>C (p.Arg130Pro)	SNV Germline/somatic	Chr10:87933148	Pathogenic	Hereditary cancer-predisposing syndrome Malignant melanoma of skin Breast neoplasm Glioblastoma Prostate adenocarcinoma Small cell lung carcinoma Neoplasm of the large intestine Malignant neoplasm of body of uterus Squamous cell lung carcinoma Uterine carcinosarcoma Squamous cell carcinoma of the head and neck Neoplasm of uterine cervix Papillary renal cell carcinoma type 1 Gastric adenocarcinoma PTEN hamartoma tumor syndrome	Reviewed By Expert Panel	CA000439	rs_121909229	4 SubmittersRCV000130803 RCV000418382 RCV000428635 RCV000438856 RCV000418980 RCV000427982 RCV000436686 RCV000437255 RCV000441753 RCV000421218 RCV000426378 RCV000429247 RCV000435997 RCV000443617 RCV000532163
NM_000546.6(TP53):c.746G>A (p.Arg249Lys)	SNV Germline/somatic	Chr17:7674217	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Medulloblastoma Hepatocellular carcinoma Pancreatic adenocarcinoma Small cell lung carcinoma Squamous cell carcinoma of the head and neck Prostate adenocarcinoma Carcinoma of esophagus Malignant neoplasm of body of uterus Lung adenocarcinoma Squamous cell carcinoma of the skin Uterine carcinosarcoma Gastric adenocarcinoma Ovarian serous cystadenocarcinoma Glioblastoma Squamous cell lung carcinoma Condition: not provided Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000391	rs_587782329	6 SubmittersRCV000131246 RCV000420497 RCV000437502 RCV000438874 RCV000439985 RCV000440358 RCV000445113 RCV000427275 RCV000429077 RCV000430131 RCV000421887 RCV000419499 RCV000419850 RCV000421647 RCV000429319 RCV000431473 RCV000724753 RCV001857457 RCV002288647
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_006218.4(PIK3CA):c.353G>A (p.Gly118Asp)	SNV Germline/somatic	Chr3:179199690	Pathogenic	Cowden syndrome 5 Neoplasm of uterine cervix Glioblastoma Gastric adenocarcinoma Neoplasm of brain Malignant neoplasm of body of uterus Pancreatic adenocarcinoma Squamous cell carcinoma of the head and neck Breast neoplasm Squamous cell lung carcinoma Thyroid tumor Prostate adenocarcinoma Condition: not provided Angioosteohypertrophic syndrome Keratoacanthoma Cowden syndrome	Criteria Provided Multiple Submitters No Conflicts	CA170883	rs_587777790	7 SubmittersRCV000144506 RCV000439852 RCV000417602 RCV000422840 RCV000428959 RCV000440522 RCV000428287 RCV000419113 RCV000420426 RCV000424957 RCV000435685 RCV000437640 RCV001726000 RCV002254279 RCV001849317 RCV002512561
NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe)	SNV Germline/somatic	Chr1:11124516	Pathogenic	Condition: not provided Neoplasm of the large intestine Malignant neoplasm of body of uterus Malignant melanoma of skin Papillary renal cell carcinoma type 1 Glioblastoma Neoplasm of uterine cervix Papillary renal cell carcinoma, sporadic Isolated focal cortical dysplasia type II Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	Reviewed By Expert Panel	CA248393	rs_587777894	5 SubmittersRCV000190281 RCV000430308 RCV000439373 RCV000422164 RCV000419624 RCV000436863 RCV000440054 RCV000429373 RCV000477713 RCV001836737
NM_000546.6(TP53):c.797G>A (p.Gly266Glu)	SNV Germline/somatic	Chr17:7673823	Pathogenic/Likely pathogenic	Malignant tumor of prostate Condition: not provided Squamous cell carcinoma of the skin Malignant melanoma of skin Breast neoplasm Small cell lung carcinoma Hepatocellular carcinoma Malignant neoplasm of body of uterus Neoplasm of the large intestine Squamous cell lung carcinoma Neoplasm of brain Uterine carcinosarcoma Carcinoma of esophagus B-cell chronic lymphocytic leukemia Pancreatic adenocarcinoma Lung adenocarcinoma Ovarian serous cystadenocarcinoma Squamous cell carcinoma of the head and neck Glioblastoma Transitional cell carcinoma of the bladder Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Neoplasm of ovary Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000421	rs_193920774	10 SubmittersRCV000149050 RCV000255749 RCV000422957 RCV000423995 RCV000433054 RCV000434273 RCV000441726 RCV000444033 RCV000418979 RCV000444063 RCV000424505 RCV000429269 RCV000429720 RCV000436020 RCV000440516 RCV000445061 RCV000418383 RCV000421625 RCV000430374 RCV000431935 RCV000492556 RCV000709403 RCV000785456 RCV002288661
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile)	SNV Germline/somatic	Chr3:179234286	Pathogenic/Likely pathogenic	Non-small cell lung carcinoma PIK3CA related overgrowth syndrome Breast neoplasm Squamous cell carcinoma of the head and neck Pancreatic adenocarcinoma Neoplasm of the large intestine Adenoid cystic carcinoma Neoplasm of brain Transitional cell carcinoma of the bladder Glioblastoma Thyroid tumor Gastric adenocarcinoma Malignant neoplasm of body of uterus Cowden syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA183868	rs_121913283	6 SubmittersRCV000155959 RCV000201237 RCV000420901 RCV000423694 RCV000426516 RCV000431600 RCV000438783 RCV000430907 RCV000442493 RCV000433967 RCV000441596 RCV000433300 RCV000420209 RCV000699681 RCV001526545 RCV002293423
NM_000546.6(TP53):c.722C>G (p.Ser241Cys)	SNV Germline/somatic	Chr17:7674241	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Condition: not provided Gallbladder carcinoma Papillary renal cell carcinoma type 1 Neoplasm of the large intestine Non-Hodgkin lymphoma Breast neoplasm Squamous cell carcinoma of the head and neck Ovarian serous cystadenocarcinoma Brainstem glioma Malignant neoplasm of body of uterus Carcinoma of esophagus Glioblastoma Neoplasm of brain Lung adenocarcinoma Papillary renal cell carcinoma, sporadic Transitional cell carcinoma of the bladder Squamous cell carcinoma of the skin Uterine carcinosarcoma Pancreatic adenocarcinoma Malignant melanoma of skin Hereditary cancer-predisposing syndrome Neoplasm of ovary Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000357	rs_28934573	8 SubmittersRCV000154419 RCV000236210 RCV000422573 RCV000426195 RCV000429339 RCV000438488 RCV000439590 RCV000442616 RCV000419417 RCV000430604 RCV000431373 RCV000437089 RCV000417965 RCV000420364 RCV000425780 RCV000426900 RCV000428236 RCV000432564 RCV000438178 RCV000439098 RCV000442642 RCV000492778 RCV000785321 RCV002288664
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.646G>A (p.Val216Met)	SNV Germline/somatic	Chr17:7674885	Pathogenic/Likely pathogenic	Condition: not provided Li-Fraumeni syndrome Breast neoplasm Ovarian serous cystadenocarcinoma Pancreatic adenocarcinoma Squamous cell carcinoma of the skin Carcinoma of esophagus Neoplasm of brain Squamous cell lung carcinoma Uterine carcinosarcoma Lung adenocarcinoma Glioblastoma Squamous cell carcinoma of the head and neck Hereditary cancer-predisposing syndrome not specified Li-Fraumeni syndrome 1 Neoplasm of ovary Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000308	rs_730882025	13 SubmittersRCV000161067 RCV000168150 RCV000421726 RCV000421819 RCV000431843 RCV000426366 RCV000438503 RCV000424101 RCV000428263 RCV000436614 RCV000432944 RCV000443170 RCV000444190 RCV000561534 RCV000583984 RCV000663213 RCV000785523 RCV003474837
NM_000546.6(TP53):c.374C>T (p.Thr125Met)	SNV Germline/somatic	Chr17:7675995	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Neoplasm of brain Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma Adrenal cortex carcinoma Ovarian serous cystadenocarcinoma Malignant melanoma of skin Pancreatic adenocarcinoma Papillary renal cell carcinoma type 1 Acute myeloid leukemia Neoplasm of the large intestine Breast neoplasm Lung adenocarcinoma Squamous cell carcinoma of the skin Hepatocellular carcinoma Glioblastoma Transitional cell carcinoma of the bladder Carcinoma of esophagus Small cell lung carcinoma Brainstem glioma Gastric adenocarcinoma Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA000140	rs_786201057	13 SubmittersRCV000162461 RCV000237013 RCV000421040 RCV000419372 RCV000421688 RCV000428519 RCV000430781 RCV000433024 RCV000431915 RCV000438666 RCV000420028 RCV000425628 RCV000427448 RCV000432405 RCV000436631 RCV000438105 RCV000417610 RCV000439150 RCV000442735 RCV000426825 RCV000443535 RCV000441098 RCV000457119 RCV000576336 RCV003462117
NM_004958.4(MTOR):c.4448G>T (p.Cys1483Phe)	SNV Germline/somatic	Chr1:11157173	Pathogenic	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome Condition: not provided Papillary renal cell carcinoma type 1 Breast neoplasm Glioblastoma	Criteria Provided Single Submitter	CA199563	rs_786205165	3 SubmittersRCV000170355 RCV000224544 RCV000431004 RCV000420307 RCV000441022
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_000546.6(TP53):c.374C>A (p.Thr125Lys)	SNV Germline/somatic	Chr17:7675995	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Adrenal cortex carcinoma Carcinoma of esophagus Neoplasm of brain Breast neoplasm Transitional cell carcinoma of the bladder Gastric adenocarcinoma Squamous cell lung carcinoma Acute myeloid leukemia Malignant melanoma of skin Neoplasm of the large intestine Small cell lung carcinoma Pancreatic adenocarcinoma Squamous cell carcinoma of the skin Squamous cell carcinoma of the head and neck Ovarian serous cystadenocarcinoma Hepatocellular carcinoma Brainstem glioma Lung adenocarcinoma Glioblastoma Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA337257	rs_786201057	3 SubmittersRCV000197507 RCV000421753 RCV000423507 RCV000438784 RCV000425663 RCV000427801 RCV000430716 RCV000433115 RCV000422366 RCV000436943 RCV000426240 RCV000430953 RCV000442723 RCV000443241 RCV000433745 RCV000443320 RCV000441651 RCV000420405 RCV000420607 RCV000431571 RCV000437594 RCV003165469
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp)	SNV Germline/somatic	Chr3:179218305	Pathogenic/Likely pathogenic	PIK3CA related overgrowth syndrome Neoplasm of uterine cervix Papillary renal cell carcinoma, sporadic Gastric adenocarcinoma Malignant melanoma of skin Uterine carcinosarcoma Prostate adenocarcinoma Squamous cell carcinoma of the head and neck Glioblastoma Brainstem glioma Breast neoplasm Squamous cell lung carcinoma Small cell lung carcinoma Malignant neoplasm of body of uterus Carcinoma of esophagus Gallbladder carcinoma Lung adenocarcinoma Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine Nasopharyngeal neoplasm Ovarian serous cystadenocarcinoma Transitional cell carcinoma of the bladder Hepatocellular carcinoma Papillary renal cell carcinoma type 1 Megalencephaly-capillary malformation-polymicrogyria syndrome Cowden syndrome Capillary malformation	Criteria Provided Multiple Submitters No Conflicts	CA210104	rs_121913275	6 SubmittersRCV000201234 RCV000419411 RCV000426549 RCV000420376 RCV000424034 RCV000425942 RCV000428214 RCV000435957 RCV000441768 RCV000444975 RCV000430430 RCV000430630 RCV000433104 RCV000436209 RCV000436795 RCV000421752 RCV000438449 RCV000421936 RCV000424819 RCV000444285 RCV000431980 RCV000445334 RCV000437183 RCV000444189 RCV000444369 RCV001775099 RCV002517302 RCV003485561
NM_000546.6(TP53):c.700T>G (p.Tyr234Asp)	SNV Germline/somatic	Chr17:7674263	Pathogenic/Likely pathogenic	Li-Fraumeni syndrome Gastric adenocarcinoma Neoplasm of the large intestine Hepatocellular carcinoma Squamous cell lung carcinoma Small cell lung carcinoma Glioblastoma Ovarian serous cystadenocarcinoma Prostate adenocarcinoma Pancreatic adenocarcinoma Squamous cell carcinoma of the head and neck Carcinoma of esophagus Adrenal cortex carcinoma Breast neoplasm Transitional cell carcinoma of the bladder Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA348450	rs_864622237	4 SubmittersRCV000204217 RCV000424345 RCV000424462 RCV000430896 RCV000433956 RCV000432845 RCV000433328 RCV000445176 RCV000418073 RCV000445265 RCV000423238 RCV000425587 RCV000435222 RCV000440475 RCV000441597 RCV000492197 RCV004020511
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu)	SNV Somatic	Chr8:38414790	Conflicting classifications of pathogenicity	Encephalocraniocutaneous lipomatosis Lymphoblastic leukemia, acute, with lymphomatous features Glioblastoma Astrocytoma Hepatocellular carcinoma Medulloblastoma Transitional cell carcinoma of the bladder Pilomyxoid astrocytoma	No Assertion Criteria Provided	CA358862	rs_869320694	5 SubmittersRCV000210479 RCV000420790 RCV000420160 RCV000430840 RCV000438709 RCV000441552 RCV000428027 RCV001849345
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.797G>T (p.Gly266Val)	SNV Germline/somatic	Chr17:7673823	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Lung adenocarcinoma Neoplasm of brain Pancreatic adenocarcinoma Squamous cell carcinoma of the head and neck Ovarian serous cystadenocarcinoma Carcinoma of esophagus Glioblastoma Squamous cell carcinoma of the skin Breast neoplasm Small cell lung carcinoma Hepatocellular carcinoma Transitional cell carcinoma of the bladder Uterine carcinosarcoma Malignant melanoma of skin Squamous cell lung carcinoma Neoplasm of the large intestine B-cell chronic lymphocytic leukemia Malignant neoplasm of body of uterus Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA10580919	rs_193920774	4 SubmittersRCV000220597 RCV000422392 RCV000424659 RCV000433685 RCV000435298 RCV000439374 RCV000440058 RCV000422798 RCV000427379 RCV000428065 RCV000429134 RCV000434748 RCV000417840 RCV000437591 RCV000444359 RCV000434911 RCV000423426 RCV000444283 RCV000445304 RCV002288888 RCV001854689
NM_000546.6(TP53):c.764T>A (p.Ile255Asn)	SNV Germline/somatic	Chr17:7674199	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Lung adenocarcinoma Neoplasm of brain Glioblastoma Breast neoplasm B-cell chronic lymphocytic leukemia Pancreatic adenocarcinoma Carcinoma of esophagus Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA10580923	rs_876659675	5 SubmittersRCV000221023 RCV000440110 RCV000441998 RCV000425285 RCV000432689 RCV000422868 RCV000432486 RCV000433813 RCV000633370 RCV002288875
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.638G>C (p.Arg213Pro)	SNV Germline/somatic	Chr17:7674893	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Squamous cell carcinoma of the skin Ovarian serous cystadenocarcinoma Breast neoplasm Squamous cell lung carcinoma Uterine carcinosarcoma Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Prostate adenocarcinoma Lung adenocarcinoma Carcinoma of esophagus Neoplasm of brain Malignant neoplasm of body of uterus Adenoid cystic carcinoma Papillary renal cell carcinoma type 1 Transitional cell carcinoma of the bladder Gastric adenocarcinoma Glioblastoma Malignant melanoma of skin Adrenal cortex carcinoma Pancreatic adenocarcinoma Nasopharyngeal neoplasm Neoplasm of the large intestine not specified Li-Fraumeni syndrome 1 Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10580932	rs_587778720	5 SubmittersRCV000220461 RCV000420213 RCV000424407 RCV000426111 RCV000429975 RCV000441598 RCV000419521 RCV000423147 RCV000418520 RCV000423776 RCV000441029 RCV000425014 RCV000443926 RCV000430230 RCV000430895 RCV000434458 RCV000435742 RCV000436779 RCV000431639 RCV000433848 RCV000443850 RCV000440212 RCV000440917 RCV000506128 RCV002288865 RCV002518297
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.845G>A (p.Arg282Gln)	SNV Germline/somatic	Chr17:7673775	Conflicting classifications of pathogenicity	Li-Fraumeni syndrome not specified Glioblastoma Papillary renal cell carcinoma type 1 Squamous cell carcinoma of the head and neck Squamous cell carcinoma of the skin Prostate adenocarcinoma Neoplasm of the large intestine Carcinoma of esophagus Pancreatic adenocarcinoma Malignant melanoma of skin Ovarian serous cystadenocarcinoma Transitional cell carcinoma of the bladder Malignant neoplasm of body of uterus Hereditary cancer-predisposing syndrome Gastric adenocarcinoma Squamous cell lung carcinoma Breast neoplasm Non-Hodgkin lymphoma Condition: not provided Neoplasm of brain Lung adenocarcinoma Hepatocellular carcinoma Malignant tumor of breast Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary Hereditary breast ovarian cancer syndrome	Criteria Provided Conflicting Classifications	CA10575441	rs_730882008	14 SubmittersRCV000226273 RCV000235474 RCV000421276 RCV000436164 RCV000444806 RCV000422340 RCV000423658 RCV000425549 RCV000426667 RCV000428909 RCV000442318 RCV000431918 RCV000442471 RCV000434324 RCV000492420 RCV000418376 RCV000427734 RCV000429554 RCV000433180 RCV000767028 RCV000437335 RCV000438489 RCV000439593 RCV001357626 RCV000709768 RCV003463657 RCV003483584
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_000546.6(TP53):c.734G>C (p.Gly245Ala)	SNV Germline/somatic	Chr17:7674229	Conflicting classifications of pathogenicity	Condition: not provided Breast neoplasm Brainstem glioma Ovarian serous cystadenocarcinoma Carcinoma of esophagus Lung adenocarcinoma Squamous cell lung carcinoma Prostate adenocarcinoma Neoplasm of the large intestine Neoplasm of brain Pancreatic adenocarcinoma Transitional cell carcinoma of the bladder Uterine carcinosarcoma Gastric adenocarcinoma Hepatocellular carcinoma Glioblastoma Squamous cell carcinoma of the head and neck Hereditary cancer-predisposing syndrome Adrenal cortex carcinoma Li-Fraumeni syndrome Adrenocortical carcinoma, hereditary	Criteria Provided Conflicting Classifications	CA10588670	rs_121912656	6 SubmittersRCV000255018 RCV000425368 RCV000428537 RCV000431752 RCV000432804 RCV000433958 RCV000436773 RCV000438479 RCV000443845 RCV000421477 RCV000422531 RCV000427619 RCV000443789 RCV000437884 RCV000420237 RCV000426521 RCV000442824 RCV002379095 RCV003995742 RCV003509522 RCV004567808
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_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_000546.6(TP53):c.731G>A (p.Gly244Asp)	SNV Germline/somatic	Chr17:7674232	Pathogenic/Likely pathogenic	Condition: not provided Glioblastoma Small cell lung carcinoma Neoplasm of the large intestine Ovarian serous cystadenocarcinoma Squamous cell lung carcinoma Lung adenocarcinoma Carcinoma of esophagus Uterine carcinosarcoma Hepatocellular carcinoma Squamous cell carcinoma of the head and neck Neoplasm of brain Li-Fraumeni syndrome Malignant neoplasm of body of uterus Hereditary cancer-predisposing syndrome Gastric adenocarcinoma Neoplasm of ovary Li-Fraumeni syndrome 1 Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA16043048	rs_985033810	10 SubmittersRCV000413969 RCV000421269 RCV000422456 RCV000419371 RCV000427142 RCV000423079 RCV000429659 RCV000428997 RCV000431939 RCV000440742 RCV000432739 RCV000444195 RCV000477083 RCV000444224 RCV000561866 RCV000439239 RCV000785537 RCV002288986 RCV003168599
NM_004958.4(MTOR):c.4447T>C (p.Cys1483Arg)	SNV Germline/somatic	Chr1:11157174	Pathogenic	Breast neoplasm Glioblastoma Papillary renal cell carcinoma type 1 Hemimegalencephaly Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	Reviewed By Expert Panel	CA16602264	rs_1057519914	3 SubmittersRCV000426008 RCV000442035 RCV000431432 RCV000494705 RCV001836813
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_006218.4(PIK3CA):c.1633G>C (p.Glu545Gln)	SNV Somatic	Chr3:179218303	Pathogenic/Likely pathogenic; drug response	Hepatocellular carcinoma Papillary renal cell carcinoma, sporadic Non-small cell lung carcinoma Nasopharyngeal neoplasm Neoplasm of uterine cervix Glioblastoma Squamous cell lung carcinoma Transitional cell carcinoma of the bladder Breast neoplasm Gastric adenocarcinoma Carcinoma of esophagus Malignant neoplasm of body of uterus Head and neck neoplasm Ovarian serous cystadenocarcinoma Lung adenocarcinoma Small cell lung carcinoma Prostate adenocarcinoma Neoplasm of the large intestine Uterine carcinosarcoma Papillary renal cell carcinoma type 1 Malignant melanoma of skin Neoplasm of brain Gallbladder carcinoma Pancreatic adenocarcinoma Squamous cell carcinoma of the head and neck Brainstem glioma Histone Methylation Therapy response	No Assertion Criteria Provided	CA16602379	rs_104886003	2 SubmittersRCV000418587 RCV000421622 RCV000423978 RCV000418767 RCV000425714 RCV000422954 RCV000423574 RCV000424431 RCV000427263 RCV000430168 RCV000435310 RCV000435795 RCV000429497 RCV000431401 RCV000435117 RCV000440189 RCV000434277 RCV000434629 RCV000436433 RCV000442112 RCV000442485 RCV000445019 RCV000431018 RCV000441730 RCV000442200 RCV000443141 RCV000626447
NM_006218.4(PIK3CA):c.1637A>C (p.Gln546Pro)	SNV Somatic	Chr3:179218307	Pathogenic/Likely pathogenic	Prostate adenocarcinoma Neoplasm of brain Glioblastoma Malignant neoplasm of body of uterus Gastric adenocarcinoma Neoplasm of the large intestine Medulloblastoma Transitional cell carcinoma of the bladder Malignant melanoma of skin Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Breast neoplasm Neoplasm of uterine cervix Neoplasm of ovary	No Assertion Criteria Provided	CA16602381	rs_397517201	2 SubmittersRCV000418297 RCV000420570 RCV000418126 RCV000427118 RCV000429432 RCV000426258 RCV000428187 RCV000428386 RCV000438213 RCV000439490 RCV000434915 RCV000442635 RCV000437376 RCV000785567
NM_006218.4(PIK3CA):c.1637A>T (p.Gln546Leu)	SNV Somatic	Chr3:179218307	Pathogenic/Likely pathogenic	Glioblastoma Breast neoplasm Malignant neoplasm of body of uterus Uterine carcinosarcoma Gastric adenocarcinoma Malignant melanoma of skin Medulloblastoma Prostate adenocarcinoma Neoplasm of uterine cervix Neoplasm of brain Transitional cell carcinoma of the bladder Neoplasm of the large intestine Squamous cell carcinoma of the head and neck	No Assertion Criteria Provided	CA16602382	rs_397517201	1 SubmittersRCV000419300 RCV000419085 RCV000421119 RCV000423895 RCV000425569 RCV000429410 RCV000430443 RCV000431372 RCV000435921 RCV000434648 RCV000440512 RCV000440705 RCV000441426
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_000314.8(PTEN):c.388C>G (p.Arg130Gly)	SNV Germline/somatic	Chr10:87933147	Pathogenic	Papillary renal cell carcinoma type 1 Malignant neoplasm of body of uterus Uterine carcinosarcoma Malignant melanoma of skin Prostate adenocarcinoma Glioblastoma Neoplasm of uterine cervix Neoplasm of ovary Neoplasm of the large intestine Squamous cell carcinoma of the head and neck Malignant tumor of floor of mouth Squamous cell lung carcinoma Gastric adenocarcinoma Endometrial carcinoma Small cell lung carcinoma Breast neoplasm PTEN hamartoma tumor syndrome Condition: not provided Cowden syndrome 1	Reviewed By Expert Panel	CA16602437	rs_121909224	7 SubmittersRCV000417737 RCV000423355 RCV000423561 RCV000422318 RCV000425625 RCV000430748 RCV000433015 RCV000434958 RCV000435427 RCV000433261 RCV000431010 RCV000440613 RCV000444349 RCV000677621 RCV000441747 RCV000443803 RCV000790885 RCV001796030 RCV001808792
NM_000546.6(TP53):c.746G>C (p.Arg249Thr)	SNV Germline/somatic	Chr17:7674217	Pathogenic/Likely pathogenic	Medulloblastoma Ovarian serous cystadenocarcinoma Squamous cell lung carcinoma Malignant neoplasm of body of uterus Glioblastoma Breast neoplasm Prostate adenocarcinoma Pancreatic adenocarcinoma Squamous cell carcinoma of the skin Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Gastric adenocarcinoma Carcinoma of esophagus Uterine carcinosarcoma Small cell lung carcinoma Acute myeloid leukemia Lung adenocarcinoma Condition: not provided Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16602484	rs_587782329	4 SubmittersRCV000420349 RCV000423288 RCV000424367 RCV000425028 RCV000422597 RCV000426063 RCV000432872 RCV000431816 RCV000433555 RCV000430687 RCV000438147 RCV000440254 RCV000444506 RCV000440948 RCV000441532 RCV000444945 RCV000445262 RCV001311109 RCV002392945 RCV004022197
NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln)	SNV Germline/somatic	Chr3:179199088	Pathogenic	Gastric adenocarcinoma Squamous cell carcinoma of the head and neck Breast neoplasm Malignant neoplasm of body of uterus Neoplasm of the large intestine Glioblastoma Prostate adenocarcinoma Brainstem glioma Uterine carcinosarcoma Transitional cell carcinoma of the bladder Neoplasm of ovary Cowden syndrome Condition: not provided PIK3CA related overgrowth syndrome Abnormal cerebral morphology Cowden syndrome 5 Megalencephaly-capillary malformation-polymicrogyria syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16602516	rs_121913287	8 SubmittersRCV000423359 RCV000422647 RCV000418599 RCV000423992 RCV000429274 RCV000429870 RCV000434047 RCV000439879 RCV000443055 RCV000440543 RCV000785354 RCV001224952 RCV001562650 RCV002274026 RCV002275002 RCV003995942 RCV003225067
NM_006218.4(PIK3CA):c.1035T>A (p.Asn345Lys)	SNV Germline/somatic	Chr3:179203765	Pathogenic	Adenoid cystic carcinoma Uterine carcinosarcoma Neoplasm of the large intestine Glioblastoma Gastric adenocarcinoma Breast neoplasm Prostate adenocarcinoma Lung adenocarcinoma Squamous cell carcinoma of the head and neck Malignant neoplasm of body of uterus Abnormal cardiovascular system morphology Condition: not provided PIK3CA related overgrowth syndrome 13 conditions	Criteria Provided Multiple Submitters No Conflicts	CA16602517	rs_121913284	5 SubmittersRCV000418844 RCV000425343 RCV000424744 RCV000426096 RCV000436059 RCV000434766 RCV000442207 RCV000442343 RCV000435436 RCV000436776 RCV001327959 RCV001172158 RCV003458198 RCV002502454
NM_181523.3(PIK3R1):c.1126G>C (p.Gly376Arg)	SNV Somatic	Chr5:68293310	Likely pathogenic	Neoplasm of brain Malignant melanoma of skin Glioblastoma Neoplasm Uterine carcinosarcoma	No Assertion Criteria Provided	CA16602527	rs_1057519757	1 SubmittersRCV000422432 RCV000421788 RCV000429204 RCV000435812 RCV000439435
NM_005228.5(EGFR):c.2156G>A (p.Gly719Asp)	SNV Somatic	Chr7:55174015	Likely pathogenic	Non-small cell lung carcinoma Squamous cell lung carcinoma Glioblastoma Lung adenocarcinoma	No Assertion Criteria Provided	CA16602537	rs_121913428	1 SubmittersRCV000418583 RCV000420993 RCV000428419 RCV000439067
NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr)	SNV Germline/somatic	Chr1:11124516	Pathogenic	Papillary renal cell carcinoma type 1 Neoplasm of the large intestine Malignant melanoma of skin Papillary renal cell carcinoma, sporadic Malignant neoplasm of body of uterus Glioblastoma Neoplasm of uterine cervix Renal carcinoma Isolated focal cortical dysplasia type II Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	Reviewed By Expert Panel	CA16602587	rs_587777894	3 SubmittersRCV000420146 RCV000418200 RCV000424789 RCV000431294 RCV000428450 RCV000435047 RCV000437777 RCV000441543 RCV000477715 RCV001836814
NM_005228.5(EGFR):c.866C>T (p.Ala289Val)	SNV Somatic	Chr7:55154129	Likely pathogenic	Glioblastoma Neoplasm of brain Squamous cell carcinoma of the head and neck	No Assertion Criteria Provided	CA16602664	rs_149840192	1 SubmittersRCV000423404 RCV000423749 RCV000439402
NM_005228.5(EGFR):c.1793G>T (p.Gly598Val)	SNV Somatic	Chr7:55165350	Likely pathogenic	Brainstem glioma Neoplasm of brain Glioblastoma	No Assertion Criteria Provided	CA4265696	rs_139236063	1 SubmittersRCV000418494 RCV000434448 RCV000436167
NM_006218.4(PIK3CA):c.1624G>C (p.Glu542Gln)	SNV Somatic	Chr3:179218294	Pathogenic/Likely pathogenic	Neoplasm of the large intestine Prostate adenocarcinoma Small cell lung carcinoma Non-small cell lung carcinoma Squamous cell carcinoma of the head and neck Malignant neoplasm of body of uterus Carcinoma of esophagus Breast neoplasm Neoplasm of brain Gastric adenocarcinoma Papillary renal cell carcinoma, sporadic Hepatocellular carcinoma Neoplasm of uterine cervix Squamous cell lung carcinoma Lung adenocarcinoma Transitional cell carcinoma of the bladder Glioblastoma Neoplasm of ovary	No Assertion Criteria Provided	CA16602697	rs_121913273	2 SubmittersRCV000417562 RCV000418640 RCV000418838 RCV000421205 RCV000423371 RCV000425149 RCV000423606 RCV000429976 RCV000428863 RCV000433655 RCV000434732 RCV000440174 RCV000435434 RCV000440003 RCV000435331 RCV000441301 RCV000444624 RCV000785596
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_004380.3(CREBBP):c.4337G>T (p.Arg1446Leu)	SNV Somatic	Chr16:3738616	Likely pathogenic	Transitional cell carcinoma of the bladder Neoplasm of uterine cervix Medulloblastoma Adenoid cystic carcinoma Squamous cell carcinoma of the head and neck Neoplasm of the large intestine Gastric adenocarcinoma Hepatocellular carcinoma Squamous cell lung carcinoma Glioblastoma Malignant melanoma of skin	No Assertion Criteria Provided	CA16602825	rs_1057519884	1 SubmittersRCV000418109 RCV000417475 RCV000422899 RCV000423976 RCV000428142 RCV000430512 RCV000434630 RCV000436449 RCV000438833 RCV000440084 RCV000441248
NM_004380.3(CREBBP):c.4337G>A (p.Arg1446His)	SNV Somatic	Chr16:3738616	Likely pathogenic	Transitional cell carcinoma of the bladder Medulloblastoma Neoplasm of uterine cervix Neoplasm of the large intestine Squamous cell carcinoma of the head and neck Adenoid cystic carcinoma Squamous cell lung carcinoma Hepatocellular carcinoma Gastric adenocarcinoma Malignant melanoma of skin Glioblastoma	No Assertion Criteria Provided	CA16602826	rs_1057519884	1 SubmittersRCV000420453 RCV000424559 RCV000425211 RCV000425657 RCV000432858 RCV000433580 RCV000435262 RCV000437565 RCV000441923 RCV000441892 RCV000443540
NM_004380.3(CREBBP):c.4336C>G (p.Arg1446Gly)	SNV Somatic	Chr16:3738617	Likely pathogenic	Glioblastoma Squamous cell carcinoma of the head and neck Adenoid cystic carcinoma Malignant melanoma of skin Neoplasm of the large intestine Squamous cell lung carcinoma Neoplasm of uterine cervix Transitional cell carcinoma of the bladder Gastric adenocarcinoma Medulloblastoma Hepatocellular carcinoma	No Assertion Criteria Provided	CA16602827	rs_398124146	1 SubmittersRCV000419312 RCV000422245 RCV000423470 RCV000428778 RCV000430036 RCV000431113 RCV000432952 RCV000438307 RCV000439458 RCV000440692 RCV000442935
NM_005228.5(EGFR):c.866C>A (p.Ala289Asp)	SNV Somatic	Chr7:55154129	Likely pathogenic	Neoplasm of brain Glioblastoma Squamous cell carcinoma of the head and neck	No Assertion Criteria Provided	CA16602834	rs_149840192	1 SubmittersRCV000427425 RCV000434840 RCV000443311
NM_005228.5(EGFR):c.1793G>C (p.Gly598Ala)	SNV Somatic	Chr7:55165350	Likely pathogenic	Neoplasm of brain Brainstem glioma Glioblastoma	No Assertion Criteria Provided	CA16602837	rs_139236063	1 SubmittersRCV000423114 RCV000429899 RCV000440786
NM_005228.5(EGFR):c.322A>G (p.Arg108Gly)	SNV Somatic	Chr7:55143386	Likely pathogenic	Glioblastoma Neoplasm of brain Brainstem glioma	No Assertion Criteria Provided	CA16602838	rs_1057519888	1 SubmittersRCV000424206 RCV000434481 RCV000440142
NM_023110.3(FGFR1):c.1968G>C (p.Lys656Asn)	SNV Somatic	Chr8:38414788	Likely pathogenic	Hepatocellular carcinoma Lymphoblastic leukemia, acute, with lymphomatous features Transitional cell carcinoma of the bladder Medulloblastoma Astrocytoma Glioblastoma	No Assertion Criteria Provided	CA16602863	rs_1057519897	1 SubmittersRCV000422833 RCV000426798 RCV000433539 RCV000437662 RCV000443011 RCV000444182
NM_004958.4(MTOR):c.4448G>A (p.Cys1483Tyr)	SNV Germline/somatic	Chr1:11157173	Pathogenic	Breast neoplasm Papillary renal cell carcinoma type 1 Glioblastoma Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes CEBALID syndrome Condition: not provided Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	Reviewed By Expert Panel	CA16602888	rs_786205165	5 SubmittersRCV000422764 RCV000433466 RCV000441728 RCV001836816 RCV001260505 RCV001861478 RCV003992287
NM_004958.4(MTOR):c.4449C>G (p.Cys1483Trp)	SNV Somatic	Chr1:11157172	Likely pathogenic	Breast neoplasm Papillary renal cell carcinoma type 1 Glioblastoma	No Assertion Criteria Provided	CA16602889	rs_1057519913	1 SubmittersRCV000421869 RCV000432577 RCV000440639
NM_004958.4(MTOR):c.6643T>A (p.Ser2215Thr)	SNV Somatic	Chr1:11124517	Likely pathogenic	Neoplasm of the large intestine Papillary renal cell carcinoma type 1 Glioblastoma Malignant melanoma of skin Neoplasm of uterine cervix Papillary renal cell carcinoma, sporadic Malignant neoplasm of body of uterus	No Assertion Criteria Provided	CA16602892	rs_1057519917	1 SubmittersRCV000421026 RCV000421682 RCV000427631 RCV000431722 RCV000434180 RCV000442076 RCV000442198
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)	SNV Germline/somatic	Chr3:179210291	Pathogenic	Gastric adenocarcinoma Glioblastoma Neoplasm of brain Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Malignant neoplasm of body of uterus Breast neoplasm Squamous cell lung carcinoma Lung adenocarcinoma Transitional cell carcinoma of the bladder Neoplasm of ovary Megalencephaly-capillary malformation-polymicrogyria syndrome Abnormal cardiovascular system morphology CLOVES syndrome Condition: not provided Cowden syndrome PIK3CA-related disorder PIK3CA related overgrowth syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16602904	rs_1057519925	12 SubmittersRCV000422944 RCV000425038 RCV000434215 RCV000440626 RCV000442682 RCV000443243 RCV000423945 RCV000430361 RCV000433137 RCV000435327 RCV000785580 RCV000991209 RCV001327961 RCV001526693 RCV001775789 RCV001861479 RCV002244865 RCV002472374
NM_006218.4(PIK3CA):c.1357G>C (p.Glu453Gln)	SNV Somatic	Chr3:179210291	Likely pathogenic	Glioblastoma Gastric adenocarcinoma Lung adenocarcinoma Squamous cell carcinoma of the head and neck Breast neoplasm Malignant neoplasm of body of uterus Neoplasm of brain Hepatocellular carcinoma Transitional cell carcinoma of the bladder Squamous cell lung carcinoma	No Assertion Criteria Provided	CA16602905	rs_1057519925	1 SubmittersRCV000419906 RCV000418841 RCV000422834 RCV000424512 RCV000429114 RCV000430193 RCV000436533 RCV000435835 RCV000440424 RCV000445141
NM_006218.4(PIK3CA):c.1359A>T (p.Glu453Asp)	SNV Somatic	Chr3:179210293	Likely pathogenic	Breast neoplasm Lung adenocarcinoma Hepatocellular carcinoma Glioblastoma Squamous cell lung carcinoma Transitional cell carcinoma of the bladder Gastric adenocarcinoma Squamous cell carcinoma of the head and neck Malignant neoplasm of body of uterus Neoplasm of brain	No Assertion Criteria Provided	CA16602906	rs_1057519926	1 SubmittersRCV000421529 RCV000423873 RCV000425686 RCV000431793 RCV000431356 RCV000432477 RCV000434200 RCV000439172 RCV000441605 RCV000442046
NM_006218.4(PIK3CA):c.1625A>C (p.Glu542Ala)	SNV Somatic	Chr3:179218295	Pathogenic/Likely pathogenic	Prostate adenocarcinoma Breast neoplasm Neoplasm of uterine cervix Transitional cell carcinoma of the bladder Small cell lung carcinoma Papillary renal cell carcinoma, sporadic Gastric adenocarcinoma Hepatocellular carcinoma Glioblastoma Lung adenocarcinoma Carcinoma of esophagus Neoplasm of the large intestine Malignant neoplasm of body of uterus Squamous cell lung carcinoma Neoplasm of brain Squamous cell carcinoma of the head and neck Lip and oral cavity carcinoma	No Assertion Criteria Provided	CA16602907	rs_1057519927	2 SubmittersRCV000419304 RCV000417967 RCV000421246 RCV000420824 RCV000421834 RCV000426519 RCV000426815 RCV000428636 RCV000430621 RCV000432777 RCV000437064 RCV000438048 RCV000438466 RCV000439966 RCV000441350 RCV000441904 RCV001255685
NM_006218.4(PIK3CA):c.1625A>T (p.Glu542Val)	SNV Somatic	Chr3:179218295	Likely pathogenic	Carcinoma of esophagus Lung adenocarcinoma Gastric adenocarcinoma Small cell lung carcinoma Prostate adenocarcinoma Transitional cell carcinoma of the bladder Squamous cell carcinoma of the head and neck Neoplasm of brain Malignant neoplasm of body of uterus Squamous cell lung carcinoma Glioblastoma Neoplasm of the large intestine Papillary renal cell carcinoma, sporadic Hepatocellular carcinoma Breast neoplasm Neoplasm of uterine cervix	No Assertion Criteria Provided	CA16602908	rs_1057519927	1 SubmittersRCV000418134 RCV000419045 RCV000420027 RCV000426905 RCV000427245 RCV000427440 RCV000427928 RCV000428899 RCV000432513 RCV000433205 RCV000435311 RCV000438103 RCV000439562 RCV000438605 RCV000442409 RCV000443002
NM_006218.4(PIK3CA):c.1625A>G (p.Glu542Gly)	SNV Germline/somatic	Chr3:179218295	Likely pathogenic	Papillary renal cell carcinoma, sporadic Neoplasm of uterine cervix Neoplasm of brain Squamous cell lung carcinoma Hepatocellular carcinoma Malignant neoplasm of body of uterus Breast neoplasm Neoplasm of the large intestine Transitional cell carcinoma of the bladder Small cell lung carcinoma Carcinoma of esophagus Lung adenocarcinoma Squamous cell carcinoma of the head and neck Gastric adenocarcinoma Glioblastoma Prostate adenocarcinoma Inborn genetic diseases Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16602909	rs_1057519927	3 SubmittersRCV000418283 RCV000423223 RCV000423683 RCV000422972 RCV000425864 RCV000425192 RCV000428975 RCV000430389 RCV000436379 RCV000434370 RCV000434554 RCV000435067 RCV000440193 RCV000442694 RCV000442566 RCV000443286 RCV000623233 RCV001821146
NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys)	SNV Germline/somatic	Chr3:179199066	Pathogenic	Malignant neoplasm of body of uterus Neoplasm of uterine cervix Squamous cell carcinoma of the head and neck Papillary renal cell carcinoma type 1 Lung adenocarcinoma Neoplasm of the large intestine Medulloblastoma Glioblastoma Breast neoplasm CLOVES syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome Condition: not provided Abnormal cardiovascular system morphology PIK3CA related overgrowth syndrome Cowden syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16602912	rs_1057519929	8 SubmittersRCV000419439 RCV000418157 RCV000420013 RCV000430702 RCV000438199 RCV000438786 RCV000426861 RCV000431022 RCV000436699 RCV001526599 RCV001542570 RCV001837893 RCV001327958 RCV003458199 RCV002524695
NM_006218.4(PIK3CA):c.3141T>G (p.His1047Gln)	SNV Somatic	Chr3:179234298	Likely pathogenic	Brainstem glioma Medulloblastoma Papillary renal cell carcinoma type 1 Malignant neoplasm of body of uterus Squamous cell carcinoma of the head and neck Prostate adenocarcinoma Hepatocellular carcinoma Squamous cell lung carcinoma Glioblastoma Malignant melanoma of skin Pancreatic adenocarcinoma Ovarian serous cystadenocarcinoma Gastric adenocarcinoma Breast neoplasm Transitional cell carcinoma of the bladder Neoplasm of uterine cervix Carcinoma of esophagus Lung adenocarcinoma Adrenal cortex carcinoma Neoplasm of the large intestine Uterine carcinosarcoma Neoplasm of brain	No Assertion Criteria Provided	CA16602915	rs_1057519932	1 SubmittersRCV000418650 RCV000418770 RCV000419872 RCV000423601 RCV000423888 RCV000425154 RCV000425376 RCV000427565 RCV000431246 RCV000431731 RCV000429930 RCV000430152 RCV000434142 RCV000433980 RCV000435397 RCV000436517 RCV000436651 RCV000440716 RCV000441412 RCV000441288 RCV000443463 RCV000442558
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_006218.4(PIK3CA):c.3127A>G (p.Met1043Val)	SNV Somatic	Chr3:179234284	Likely pathogenic	Malignant neoplasm of body of uterus Adenoid cystic carcinoma Squamous cell carcinoma of the head and neck Pancreatic adenocarcinoma Neoplasm of brain Glioblastoma Transitional cell carcinoma of the bladder Breast neoplasm Gastric adenocarcinoma Neoplasm of the large intestine Thyroid tumor	No Assertion Criteria Provided	CA16602919	rs_1057519936	1 SubmittersRCV000417957 RCV000419027 RCV000423343 RCV000423589 RCV000429331 RCV000429124 RCV000433627 RCV000435660 RCV000439355 RCV000440154 RCV000441269
NM_006218.4(PIK3CA):c.3128T>C (p.Met1043Thr)	SNV Somatic	Chr3:179234285	Likely pathogenic	Neoplasm of brain Pancreatic adenocarcinoma Neoplasm of the large intestine Transitional cell carcinoma of the bladder Breast neoplasm Malignant neoplasm of body of uterus Glioblastoma Adenoid cystic carcinoma Gastric adenocarcinoma Squamous cell carcinoma of the head and neck Thyroid tumor	No Assertion Criteria Provided	CA16602920	rs_1057519937	1 SubmittersRCV000419432 RCV000418334 RCV000424578 RCV000424888 RCV000425958 RCV000431470 RCV000434729 RCV000436034 RCV000436247 RCV000443392 RCV000443538
NM_006218.4(PIK3CA):c.3127A>T (p.Met1043Leu)	SNV Somatic	Chr3:179234284	Likely pathogenic	Pancreatic adenocarcinoma Gastric adenocarcinoma Glioblastoma Malignant neoplasm of body of uterus Thyroid tumor Neoplasm of brain Squamous cell carcinoma of the head and neck Neoplasm of the large intestine Breast neoplasm Adenoid cystic carcinoma Transitional cell carcinoma of the bladder	No Assertion Criteria Provided	CA16602921	rs_1057519936	1 SubmittersRCV000419689 RCV000421068 RCV000424307 RCV000429768 RCV000430807 RCV000432173 RCV000434560 RCV000440867 RCV000438701 RCV000442804 RCV000441125
NM_006218.4(PIK3CA):c.1034A>T (p.Asn345Ile)	SNV Somatic	Chr3:179203764	Likely pathogenic	Glioblastoma Gastric adenocarcinoma Prostate adenocarcinoma Malignant neoplasm of body of uterus Lung adenocarcinoma Uterine carcinosarcoma Squamous cell carcinoma of the head and neck Neoplasm of the large intestine Adenoid cystic carcinoma Breast neoplasm	No Assertion Criteria Provided	CA16602922	rs_1057519938	1 SubmittersRCV000420462 RCV000422177 RCV000427010 RCV000425913 RCV000431093 RCV000432439 RCV000437641 RCV000436601 RCV000442174 RCV000442934
NM_006218.4(PIK3CA):c.1034A>C (p.Asn345Thr)	SNV Germline/somatic	Chr3:179203764	Pathogenic	Lung adenocarcinoma Prostate adenocarcinoma Neoplasm of the large intestine Uterine carcinosarcoma Squamous cell carcinoma of the head and neck Breast neoplasm Adenoid cystic carcinoma Glioblastoma Malignant neoplasm of body of uterus Gastric adenocarcinoma Megalencephaly-capillary malformation-polymicrogyria syndrome Noonan syndrome 8	Criteria Provided Single Submitter	CA16602923	rs_1057519938	2 SubmittersRCV000417579 RCV000422347 RCV000421685 RCV000428271 RCV000428856 RCV000433058 RCV000438925 RCV000439528 RCV000438272 RCV000444032 RCV002051723
NM_006218.4(PIK3CA):c.1033A>C (p.Asn345His)	SNV Somatic	Chr3:179203763	Likely pathogenic	Squamous cell carcinoma of the head and neck Neoplasm of the large intestine Gastric adenocarcinoma Glioblastoma Malignant neoplasm of body of uterus Prostate adenocarcinoma Lung adenocarcinoma Adenoid cystic carcinoma Breast neoplasm Uterine carcinosarcoma	No Assertion Criteria Provided	CA16602924	rs_1057519939	1 SubmittersRCV000417635 RCV000423002 RCV000427082 RCV000428413 RCV000427665 RCV000433621 RCV000434861 RCV000437752 RCV000442437 RCV000443184
NM_006218.4(PIK3CA):c.1638G>T (p.Gln546His)	SNV Somatic	Chr3:179218308	Likely pathogenic	Gastric adenocarcinoma Malignant neoplasm of body of uterus Prostate adenocarcinoma Neoplasm of uterine cervix Squamous cell carcinoma of the head and neck Neoplasm of the large intestine Glioblastoma Medulloblastoma Breast neoplasm Transitional cell carcinoma of the bladder Malignant melanoma of skin Uterine carcinosarcoma Neoplasm of brain	No Assertion Criteria Provided	CA16602925	rs_1057519940	1 SubmittersRCV000418387 RCV000423418 RCV000422478 RCV000424039 RCV000429701 RCV000429064 RCV000434775 RCV000434103 RCV000435614 RCV000440379 RCV000441318 RCV000439710 RCV000443458
NM_006218.4(PIK3CA):c.113G>A (p.Arg38His)	SNV Germline/somatic	Chr3:179198938	Likely pathogenic	Glioblastoma Malignant neoplasm of body of uterus Neoplasm of uterine cervix Squamous cell lung carcinoma Neoplasm of the large intestine Gastric adenocarcinoma Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	Criteria Provided Single Submitter	CA2710498	rs_772110575	2 SubmittersRCV000418734 RCV000424742 RCV000425403 RCV000431951 RCV000436118 RCV000443605 RCV003993951
NM_006218.4(PIK3CA):c.112C>A (p.Arg38Ser)	SNV Somatic	Chr3:179198937	Likely pathogenic	Neoplasm of uterine cervix Malignant neoplasm of body of uterus Glioblastoma Gastric adenocarcinoma Neoplasm of the large intestine Squamous cell lung carcinoma	No Assertion Criteria Provided	CA16602926	rs_749415085	1 SubmittersRCV000421528 RCV000424314 RCV000430901 RCV000431544 RCV000438739 RCV000441606
NM_006218.4(PIK3CA):c.113G>T (p.Arg38Leu)	SNV Somatic	Chr3:179198938	Likely pathogenic	Squamous cell lung carcinoma Glioblastoma Gastric adenocarcinoma Neoplasm of the large intestine Malignant neoplasm of body of uterus Neoplasm of uterine cervix	No Assertion Criteria Provided	CA16602927	rs_772110575	1 SubmittersRCV000425565 RCV000426273 RCV000432150 RCV000432808 RCV000442897 RCV000442990
NM_006218.4(PIK3CA):c.112C>G (p.Arg38Gly)	SNV Somatic	Chr3:179198937	Likely pathogenic	Glioblastoma Gastric adenocarcinoma Neoplasm of the large intestine Squamous cell lung carcinoma Malignant neoplasm of body of uterus Neoplasm of uterine cervix	No Assertion Criteria Provided	CA16602928	rs_749415085	1 SubmittersRCV000420508 RCV000419739 RCV000427069 RCV000431174 RCV000436970 RCV000437732
NM_006218.4(PIK3CA):c.1031T>G (p.Val344Gly)	SNV Somatic	Chr3:179203761	Likely pathogenic	Neoplasm of uterine cervix Malignant neoplasm of body of uterus Non-Hodgkin lymphoma Glioblastoma Neoplasm of the large intestine Malignant melanoma of skin Breast neoplasm Squamous cell carcinoma of the head and neck Neoplasm of ovary	No Assertion Criteria Provided	CA16602929	rs_1057519941	2 SubmittersRCV000417650 RCV000421854 RCV000422522 RCV000428317 RCV000429042 RCV000438355 RCV000438998 RCV000439748 RCV000785595
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met)	SNV Germline/somatic	Chr3:179203760	Pathogenic	Breast neoplasm Neoplasm of uterine cervix Squamous cell carcinoma of the head and neck Glioblastoma Malignant melanoma of skin Non-Hodgkin lymphoma Malignant neoplasm of body of uterus Condition: not provided Neoplasm of the large intestine Cowden syndrome Cowden syndrome 5 Megalencephaly, autosomal dominant Intestinal duplication Hypertelorism Diaphragmatic eventration Abnormality of the hairline PIK3CA related overgrowth syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16602930	rs_1057519942	9 SubmittersRCV000423160 RCV000427369 RCV000433868 RCV000433184 RCV000438004 RCV000443225 RCV000444028 RCV000485942 RCV000443321 RCV000631216 RCV000767535 RCV000852337 RCV003985084
NM_006218.4(PIK3CA):c.1031T>C (p.Val344Ala)	SNV Somatic	Chr3:179203761	Likely pathogenic	Malignant melanoma of skin Glioblastoma Neoplasm of uterine cervix Malignant neoplasm of body of uterus Squamous cell carcinoma of the head and neck Neoplasm of the large intestine Non-Hodgkin lymphoma Breast neoplasm	No Assertion Criteria Provided	CA16602931	rs_1057519941	1 SubmittersRCV000417995 RCV000419612 RCV000424496 RCV000429893 RCV000428687 RCV000435882 RCV000435208 RCV000440109
NM_000314.8(PTEN):c.389G>T (p.Arg130Leu)	SNV Germline/somatic	Chr10:87933148	Pathogenic/Likely pathogenic	Neoplasm of the large intestine Papillary renal cell carcinoma type 1 Squamous cell lung carcinoma Small cell lung carcinoma Malignant neoplasm of body of uterus Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Neoplasm of uterine cervix Malignant melanoma of skin Prostate adenocarcinoma Breast neoplasm Gastric adenocarcinoma Glioblastoma Condition: not provided Hereditary cancer-predisposing syndrome PTEN hamartoma tumor syndrome Cowden syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16602940	rs_121909229	10 SubmittersRCV000419474 RCV000421727 RCV000422329 RCV000424192 RCV000427024 RCV000429105 RCV000429740 RCV000431964 RCV000440004 RCV000434449 RCV000439348 RCV000443701 RCV000443776 RCV000482735 RCV000490825 RCV001851019 RCV003152708
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.725G>T (p.Cys242Phe)	SNV Germline/somatic	Chr17:7674238	Conflicting classifications of pathogenicity	Breast neoplasm Uterine carcinosarcoma Glioblastoma Squamous cell lung carcinoma Hepatocellular carcinoma B-cell chronic lymphocytic leukemia Transitional cell carcinoma of the bladder Lung adenocarcinoma Carcinoma of esophagus Gastric adenocarcinoma Squamous cell carcinoma of the head and neck Neoplasm of ovary Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA501203	rs_121912655	4 SubmittersRCV000417879 RCV000418512 RCV000424746 RCV000425032 RCV000427153 RCV000433671 RCV000435743 RCV000442305 RCV000435022 RCV000438269 RCV000442449 RCV000785473 RCV000688366 RCV002379285
NM_000546.6(TP53):c.724T>A (p.Cys242Ser)	SNV Germline/somatic	Chr17:7674239	Conflicting classifications of pathogenicity	B-cell chronic lymphocytic leukemia Squamous cell lung carcinoma Breast neoplasm Lung adenocarcinoma Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Carcinoma of esophagus Gastric adenocarcinoma Glioblastoma Uterine carcinosarcoma Transitional cell carcinoma of the bladder Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16603004	rs_1057519982	5 SubmittersRCV000419559 RCV000423712 RCV000424356 RCV000430244 RCV000429187 RCV000431566 RCV000434352 RCV000439881 RCV000441578 RCV000440943 RCV000442629 RCV000662594 RCV001026200 RCV001325155
NM_000546.6(TP53):c.726C>G (p.Cys242Trp)	SNV Germline/somatic	Chr17:7674237	Pathogenic	Squamous cell carcinoma of the head and neck Lung adenocarcinoma Hepatocellular carcinoma Glioblastoma B-cell chronic lymphocytic leukemia Squamous cell lung carcinoma Carcinoma of esophagus Uterine carcinosarcoma Gastric adenocarcinoma Breast neoplasm Transitional cell carcinoma of the bladder Li-Fraumeni syndrome	Criteria Provided Single Submitter	CA16603005	rs_375874539	2 SubmittersRCV000420256 RCV000421654 RCV000420917 RCV000422298 RCV000431682 RCV000430938 RCV000432990 RCV000432344 RCV000438862 RCV000442778 RCV000441640 RCV003621530
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.730G>T (p.Gly244Cys)	SNV Germline/somatic	Chr17:7674233	Conflicting classifications of pathogenicity	Neoplasm of the large intestine Glioblastoma Hepatocellular carcinoma Neoplasm of brain Squamous cell lung carcinoma Small cell lung carcinoma Malignant neoplasm of body of uterus Ovarian serous cystadenocarcinoma Uterine carcinosarcoma Squamous cell carcinoma of the head and neck Carcinoma of esophagus Lung adenocarcinoma Gastric adenocarcinoma Li-Fraumeni syndrome Familial cancer of breast Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603021	rs_1057519989	5 SubmittersRCV000419449 RCV000418385 RCV000422508 RCV000427774 RCV000430162 RCV000427875 RCV000429067 RCV000438569 RCV000436692 RCV000437805 RCV000437360 RCV000439724 RCV000443459 RCV000538079 RCV001270273 RCV001567979 RCV002379286
NM_000546.6(TP53):c.730G>A (p.Gly244Ser)	SNV Germline/somatic	Chr17:7674233	Pathogenic	Lung adenocarcinoma Ovarian serous cystadenocarcinoma Small cell lung carcinoma Squamous cell lung carcinoma Uterine carcinosarcoma Neoplasm of brain Carcinoma of esophagus Hepatocellular carcinoma Glioblastoma Malignant neoplasm of body of uterus Squamous cell carcinoma of the head and neck Gastric adenocarcinoma Neoplasm of the large intestine Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Rhabdomyosarcoma Li-Fraumeni syndrome 1 Gastric cancer Adrenocortical carcinoma, hereditary Malignant tumor of urinary bladder	Criteria Provided Multiple Submitters No Conflicts	CA16603022	rs_1057519989	9 SubmittersRCV000418805 RCV000421362 RCV000425382 RCV000423748 RCV000426057 RCV000426513 RCV000432031 RCV000433704 RCV000436060 RCV000434459 RCV000441006 RCV000442909 RCV000443654 RCV000492366 RCV000633372 RCV001257520 RCV002289524 RCV003168616 RCV003476007 RCV003332172
NM_000546.6(TP53):c.731G>T (p.Gly244Val)	SNV Somatic	Chr17:7674232	Likely pathogenic	Hepatocellular carcinoma Neoplasm of brain Squamous cell lung carcinoma Glioblastoma Squamous cell carcinoma of the head and neck Neoplasm of the large intestine Gastric adenocarcinoma Malignant neoplasm of body of uterus Lung adenocarcinoma Uterine carcinosarcoma Small cell lung carcinoma Carcinoma of esophagus Ovarian serous cystadenocarcinoma Neoplasm of ovary Li-Fraumeni syndrome 1	Criteria Provided Single Submitter	CA16603023	rs_985033810	3 SubmittersRCV000420188 RCV000417831 RCV000423073 RCV000424338 RCV000428522 RCV000430897 RCV000433321 RCV000433805 RCV000440310 RCV000441607 RCV000434977 RCV000443964 RCV000439173 RCV000785338 RCV004022214
NM_000546.6(TP53):c.730G>C (p.Gly244Arg)	SNV Somatic	Chr17:7674233	Likely pathogenic	Gastric adenocarcinoma Neoplasm of brain Glioblastoma Neoplasm of the large intestine Lung adenocarcinoma Ovarian serous cystadenocarcinoma Carcinoma of esophagus Squamous cell carcinoma of the head and neck Malignant neoplasm of body of uterus Uterine carcinosarcoma Hepatocellular carcinoma Squamous cell lung carcinoma Small cell lung carcinoma	No Assertion Criteria Provided	CA16603024	rs_1057519989	1 SubmittersRCV000419267 RCV000420351 RCV000418001 RCV000424520 RCV000425133 RCV000425485 RCV000430145 RCV000431028 RCV000432729 RCV000435229 RCV000437599 RCV000438254 RCV000443153
NM_000546.6(TP53):c.734G>T (p.Gly245Val)	SNV Germline/somatic	Chr17:7674229	Pathogenic	Squamous cell carcinoma of the head and neck Gastric adenocarcinoma Ovarian serous cystadenocarcinoma Neoplasm of brain Glioblastoma Neoplasm of the large intestine Uterine carcinosarcoma Transitional cell carcinoma of the bladder Carcinoma of esophagus Prostate adenocarcinoma Pancreatic adenocarcinoma Hepatocellular carcinoma Breast neoplasm Lung adenocarcinoma Squamous cell lung carcinoma Brainstem glioma Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA001743	rs_121912656	6 SubmittersRCV000418643 RCV000421020 RCV000421739 RCV000424123 RCV000426568 RCV000428216 RCV000429303 RCV000430431 RCV000434145 RCV000434833 RCV000435854 RCV000437258 RCV000439974 RCV000438982 RCV000443716 RCV000444483 RCV000558455 RCV001026313 RCV001548147 RCV002289525 RCV003476008
NM_000546.6(TP53):c.733G>C (p.Gly245Arg)	SNV Germline/somatic	Chr17:7674230	Conflicting classifications of pathogenicity	Squamous cell lung carcinoma Transitional cell carcinoma of the bladder Prostate adenocarcinoma Gastric adenocarcinoma Carcinoma of esophagus Breast neoplasm Neoplasm of the large intestine Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Pancreatic adenocarcinoma Neoplasm of brain Ovarian serous cystadenocarcinoma Hepatocellular carcinoma Lung adenocarcinoma Brainstem glioma Glioblastoma Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603025	rs_28934575	4 SubmittersRCV000418277 RCV000420527 RCV000419444 RCV000424643 RCV000425790 RCV000426804 RCV000429713 RCV000432081 RCV000430767 RCV000431462 RCV000436041 RCV000437043 RCV000439119 RCV000441708 RCV000444043 RCV000444128 RCV000633351 RCV001026295 RCV004022215
NM_000546.6(TP53):c.796G>C (p.Gly266Arg)	SNV Germline/somatic	Chr17:7673824	Pathogenic	Glioblastoma Breast neoplasm Lung adenocarcinoma Neoplasm of the large intestine Malignant melanoma of skin Transitional cell carcinoma of the bladder Ovarian serous cystadenocarcinoma Carcinoma of esophagus Neoplasm of brain Squamous cell carcinoma of the skin Squamous cell lung carcinoma Uterine carcinosarcoma B-cell chronic lymphocytic leukemia Squamous cell carcinoma of the head and neck Pancreatic adenocarcinoma Malignant neoplasm of body of uterus Hepatocellular carcinoma Small cell lung carcinoma Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603026	rs_1057519990	4 SubmittersRCV000419323 RCV000420436 RCV000419956 RCV000421105 RCV000422610 RCV000426767 RCV000425613 RCV000426755 RCV000430688 RCV000431795 RCV000432420 RCV000431342 RCV000435860 RCV000437000 RCV000439845 RCV000439191 RCV000441587 RCV000444661 RCV000803659 RCV001027017 RCV002289526
NM_000546.6(TP53):c.536A>G (p.His179Arg)	SNV Germline/somatic	Chr17:7675076	Conflicting classifications of pathogenicity	Glioblastoma Hepatocellular carcinoma Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma Pancreatic adenocarcinoma Neoplasm of brain Acute myeloid leukemia Gallbladder carcinoma Small cell lung carcinoma Neoplasm of the large intestine Breast neoplasm Uterine carcinosarcoma Lung adenocarcinoma Squamous cell carcinoma of the skin Malignant neoplasm of body of uterus Ovarian serous cystadenocarcinoma Carcinoma of esophagus Li-Fraumeni syndrome Gastric adenocarcinoma Malignant melanoma of skin Hereditary cancer-predisposing syndrome Neoplasm of ovary Condition: not provided TP53-related disorder Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603027	rs_1057519991	9 SubmittersRCV000420789 RCV000417695 RCV000417973 RCV000427175 RCV000433943 RCV000437826 RCV000433227 RCV000438042 RCV000443785 RCV000438407 RCV000439947 RCV000440632 RCV000421853 RCV000423292 RCV000426502 RCV000428674 RCV000429260 RCV000529132 RCV000432550 RCV000445268 RCV001023983 RCV000785555 RCV001591055 RCV003983035 RCV004022216
NM_000546.6(TP53):c.537T>G (p.His179Gln)	SNV Germline/somatic	Chr17:7675075	Pathogenic/Likely pathogenic	Acute myeloid leukemia Squamous cell carcinoma of the skin Gallbladder carcinoma Squamous cell lung carcinoma Malignant melanoma of skin Neoplasm of brain Gastric adenocarcinoma Glioblastoma Lung adenocarcinoma Malignant neoplasm of body of uterus Small cell lung carcinoma Pancreatic adenocarcinoma Ovarian serous cystadenocarcinoma Squamous cell carcinoma of the head and neck Neoplasm of the large intestine Hepatocellular carcinoma Uterine carcinosarcoma Breast neoplasm Carcinoma of esophagus Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603028	rs_876660821	7 SubmittersRCV000419975 RCV000420594 RCV000421045 RCV000421558 RCV000423857 RCV000425641 RCV000425896 RCV000428479 RCV000431364 RCV000429821 RCV000431267 RCV000436580 RCV000437195 RCV000436952 RCV000439103 RCV000441082 RCV000444017 RCV000444951 RCV000444976 RCV000815181 RCV001293868 RCV002264935 RCV002289527
NM_000546.6(TP53):c.536A>T (p.His179Leu)	SNV Germline/somatic	Chr17:7675076	Conflicting classifications of pathogenicity	Glioblastoma Squamous cell carcinoma of the head and neck Carcinoma of esophagus Breast neoplasm Small cell lung carcinoma Uterine carcinosarcoma Gallbladder carcinoma Squamous cell carcinoma of the skin Acute myeloid leukemia Gastric adenocarcinoma Hepatocellular carcinoma Ovarian serous cystadenocarcinoma Lung adenocarcinoma Pancreatic adenocarcinoma Neoplasm of brain Malignant neoplasm of body of uterus Malignant melanoma of skin Squamous cell lung carcinoma Li-Fraumeni syndrome Neoplasm of the large intestine Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603029	rs_1057519991	5 SubmittersRCV000421837 RCV000429543 RCV000426806 RCV000427517 RCV000433134 RCV000418129 RCV000420124 RCV000432531 RCV000438217 RCV000439318 RCV000427330 RCV000438631 RCV000444683 RCV000418835 RCV000427941 RCV000439930 RCV000432746 RCV000435347 RCV000705316 RCV000443637 RCV003476009 RCV004022217 RCV002348143
NM_000546.6(TP53):c.535C>A (p.His179Asn)	SNV Germline/somatic	Chr17:7675077	Conflicting classifications of pathogenicity	Uterine carcinosarcoma Malignant neoplasm of body of uterus Lung adenocarcinoma Small cell lung carcinoma Carcinoma of esophagus Squamous cell carcinoma of the skin Neoplasm of the large intestine Neoplasm of brain Acute myeloid leukemia Pancreatic adenocarcinoma Hepatocellular carcinoma Glioblastoma Squamous cell carcinoma of the head and neck Gallbladder carcinoma Ovarian serous cystadenocarcinoma Malignant melanoma of skin Gastric adenocarcinoma Breast neoplasm Squamous cell lung carcinoma Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603030	rs_587780070	5 SubmittersRCV000419091 RCV000418067 RCV000419301 RCV000422109 RCV000422797 RCV000424599 RCV000424807 RCV000427824 RCV000429415 RCV000430449 RCV000433706 RCV000434154 RCV000433494 RCV000435925 RCV000434865 RCV000440508 RCV000440898 RCV000445154 RCV000444321 RCV000564826 RCV000695193 RCV001575036 RCV004022218
NM_000546.6(TP53):c.535C>G (p.His179Asp)	SNV Germline/somatic	Chr17:7675077	Conflicting classifications of pathogenicity	Small cell lung carcinoma Neoplasm of the large intestine Uterine carcinosarcoma Ovarian serous cystadenocarcinoma Lung adenocarcinoma Gastric adenocarcinoma Gallbladder carcinoma Hepatocellular carcinoma Acute myeloid leukemia Breast neoplasm Glioblastoma Squamous cell carcinoma of the head and neck Carcinoma of esophagus Malignant melanoma of skin Pancreatic adenocarcinoma Squamous cell carcinoma of the skin Squamous cell lung carcinoma Neoplasm of brain Malignant neoplasm of body of uterus Li-Fraumeni syndrome not specified Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603031	rs_587780070	6 SubmittersRCV000419821 RCV000421694 RCV000424030 RCV000423899 RCV000425288 RCV000430072 RCV000431709 RCV000431956 RCV000437679 RCV000436622 RCV000441771 RCV000444860 RCV000444992 RCV000420116 RCV000426383 RCV000430612 RCV000436443 RCV000440707 RCV000443866 RCV001851020 RCV002465649 RCV003335320 RCV003470376 RCV002348144
NM_000546.6(TP53):c.536A>C (p.His179Pro)	SNV Germline/somatic	Chr17:7675076	Conflicting classifications of pathogenicity	Malignant neoplasm of body of uterus Squamous cell lung carcinoma Pancreatic adenocarcinoma Uterine carcinosarcoma Glioblastoma Squamous cell carcinoma of the head and neck Small cell lung carcinoma Acute myeloid leukemia Neoplasm of brain Carcinoma of esophagus Squamous cell carcinoma of the skin Malignant melanoma of skin Breast neoplasm Gallbladder carcinoma Hepatocellular carcinoma Neoplasm of the large intestine Ovarian serous cystadenocarcinoma Lung adenocarcinoma Gastric adenocarcinoma Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16603032	rs_1057519991	3 SubmittersRCV000420510 RCV000421224 RCV000421433 RCV000422328 RCV000426919 RCV000427172 RCV000427925 RCV000428125 RCV000431234 RCV000432547 RCV000433456 RCV000434884 RCV000437164 RCV000439058 RCV000438275 RCV000441519 RCV000444604 RCV000444694 RCV000443703 RCV001023982 RCV001861483
NM_000546.6(TP53):c.641A>G (p.His214Arg)	SNV Germline/somatic	Chr17:7674890	Likely pathogenic	Papillary renal cell carcinoma type 1 Squamous cell lung carcinoma Carcinoma of esophagus Gastric adenocarcinoma Pancreatic adenocarcinoma Hepatocellular carcinoma Ovarian serous cystadenocarcinoma Glioblastoma Transitional cell carcinoma of the bladder Neoplasm of the large intestine B-cell chronic lymphocytic leukemia Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Condition: not provided Li-Fraumeni syndrome 1	Reviewed By Expert Panel	CA16040595	rs_1057519992	8 SubmittersRCV000417658 RCV000418330 RCV000422504 RCV000427653 RCV000429028 RCV000428396 RCV000429736 RCV000439733 RCV000434864 RCV000435583 RCV000445232 RCV000477234 RCV000492372 RCV001584113 RCV004022220
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.763A>T (p.Ile255Phe)	SNV Germline/somatic	Chr17:7674200	Conflicting classifications of pathogenicity	Neoplasm of brain Breast neoplasm Lung adenocarcinoma Carcinoma of esophagus Glioblastoma B-cell chronic lymphocytic leukemia Pancreatic adenocarcinoma Li-Fraumeni syndrome Neoplasm of ovary Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603041	rs_1057519995	5 SubmittersRCV000418615 RCV000428426 RCV000425759 RCV000436027 RCV000435616 RCV000436676 RCV000444896 RCV001301950 RCV000785451 RCV002392946 RCV004022222
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.332T>C (p.Leu111Pro)	SNV Germline/somatic	Chr17:7676037	Conflicting classifications of pathogenicity	Glioblastoma Carcinoma of esophagus Breast neoplasm B-cell chronic lymphocytic leukemia Hepatocellular carcinoma Malignant melanoma of skin Gastric adenocarcinoma Squamous cell lung carcinoma Li-Fraumeni syndrome Neoplasm of ovary Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603049	rs_1057519997	5 SubmittersRCV000417617 RCV000425579 RCV000428739 RCV000425862 RCV000435274 RCV000435918 RCV000441916 RCV000442239 RCV000459042 RCV000785496 RCV000480700 RCV004022227
NM_000546.6(TP53):c.332T>A (p.Leu111Gln)	SNV Germline/somatic	Chr17:7676037	Conflicting classifications of pathogenicity	Squamous cell lung carcinoma Gastric adenocarcinoma Malignant melanoma of skin Hepatocellular carcinoma Breast neoplasm Carcinoma of esophagus Glioblastoma B-cell chronic lymphocytic leukemia Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603051	rs_1057519997	3 SubmittersRCV000421931 RCV000424730 RCV000433045 RCV000433598 RCV000434970 RCV000442091 RCV000442462 RCV000443054 RCV001041362 RCV004022228
NM_000546.6(TP53):c.581T>G (p.Leu194Arg)	SNV Germline/somatic	Chr17:7674950	Conflicting classifications of pathogenicity	Neoplasm of uterine cervix Neoplasm of brain Ovarian serous cystadenocarcinoma Neoplasm of the large intestine Squamous cell carcinoma of the head and neck Breast neoplasm Hepatocellular carcinoma Lung adenocarcinoma Transitional cell carcinoma of the bladder Glioblastoma Pancreatic adenocarcinoma Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Colorectal cancer Neoplasm of ovary Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16044097	rs_1057519998	6 SubmittersRCV000419180 RCV000420755 RCV000422070 RCV000430366 RCV000424933 RCV000431014 RCV000428827 RCV000436915 RCV000439886 RCV000437791 RCV000440633 RCV000535418 RCV000561306 RCV001270270 RCV000785551 RCV004022229
NM_000546.6(TP53):c.581T>A (p.Leu194His)	SNV Germline/somatic	Chr17:7674950	Conflicting classifications of pathogenicity	Ovarian serous cystadenocarcinoma Breast neoplasm Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Glioblastoma Neoplasm of uterine cervix Neoplasm of the large intestine Neoplasm of brain Transitional cell carcinoma of the bladder Pancreatic adenocarcinoma Lung adenocarcinoma Hereditary cancer-predisposing syndrome Neoplasm of ovary Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603052	rs_1057519998	5 SubmittersRCV000421586 RCV000426499 RCV000422209 RCV000427064 RCV000431615 RCV000431831 RCV000436747 RCV000434795 RCV000443531 RCV000442619 RCV000443173 RCV000565549 RCV000785543 RCV001376885 RCV004022230
NM_000546.6(TP53):c.523C>G (p.Arg175Gly)	SNV Germline/somatic	Chr17:7675089	Pathogenic/Likely pathogenic	Malignant neoplasm of body of uterus Neoplasm of the large intestine Brainstem glioma Hepatocellular carcinoma Ovarian serous cystadenocarcinoma Nasopharyngeal neoplasm Transitional cell carcinoma of the bladder Carcinoma of esophagus Breast neoplasm Pancreatic adenocarcinoma Glioblastoma Neoplasm of brain Lung adenocarcinoma Squamous cell lung carcinoma Squamous cell carcinoma of the head and neck Medulloblastoma Prostate adenocarcinoma Malignant melanoma of skin Gastric adenocarcinoma B-cell chronic lymphocytic leukemia Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Neoplasm of ovary Uterine carcinosarcoma Gallbladder carcinoma Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603066	rs_138729528	7 SubmittersRCV000420706 RCV000419625 RCV000421238 RCV000421436 RCV000426938 RCV000424235 RCV000420923 RCV000425355 RCV000430584 RCV000428548 RCV000432831 RCV000436759 RCV000430740 RCV000430935 RCV000436078 RCV000438570 RCV000437498 RCV000441260 RCV000432105 RCV000444111 RCV000459914 RCV000573315 RCV000785486 RCV000443278 RCV000444080 RCV001584115 RCV002289532
NM_000546.6(TP53):c.638G>T (p.Arg213Leu)	SNV Germline/somatic	Chr17:7674893	Conflicting classifications of pathogenicity	Adrenal cortex carcinoma Malignant melanoma of skin Uterine carcinosarcoma Neoplasm of brain Neoplasm of the large intestine Hepatocellular carcinoma Papillary renal cell carcinoma type 1 Breast neoplasm Carcinoma of esophagus Glioblastoma Pancreatic adenocarcinoma Squamous cell carcinoma of the head and neck Transitional cell carcinoma of the bladder Squamous cell lung carcinoma Gastric adenocarcinoma Squamous cell carcinoma of the skin Adenoid cystic carcinoma Prostate adenocarcinoma Lung adenocarcinoma Nasopharyngeal neoplasm Ovarian serous cystadenocarcinoma Malignant neoplasm of body of uterus Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603067	rs_587778720	3 SubmittersRCV000417467 RCV000418814 RCV000418608 RCV000421737 RCV000422458 RCV000422684 RCV000428488 RCV000428624 RCV000428841 RCV000427240 RCV000427500 RCV000433789 RCV000432738 RCV000435387 RCV000435132 RCV000437481 RCV000438469 RCV000439587 RCV000439979 RCV000443648 RCV000444469 RCV000445195 RCV001371092 RCV004022236
NM_000546.6(TP53):c.637C>G (p.Arg213Gly)	SNV Germline/somatic	Chr17:7674894	Conflicting classifications of pathogenicity	Hepatocellular carcinoma Malignant neoplasm of body of uterus Glioblastoma Squamous cell carcinoma of the head and neck Malignant melanoma of skin Neoplasm of the large intestine Carcinoma of esophagus Adenoid cystic carcinoma Pancreatic adenocarcinoma Adrenal cortex carcinoma Papillary renal cell carcinoma type 1 Ovarian serous cystadenocarcinoma Neoplasm of brain Gastric adenocarcinoma Squamous cell carcinoma of the skin Transitional cell carcinoma of the bladder Uterine carcinosarcoma Nasopharyngeal neoplasm Squamous cell lung carcinoma Prostate adenocarcinoma Lung adenocarcinoma Breast neoplasm Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603068	rs_397516436	4 SubmittersRCV000417479 RCV000419627 RCV000420272 RCV000421648 RCV000421524 RCV000425630 RCV000424254 RCV000426157 RCV000426799 RCV000428823 RCV000428146 RCV000431481 RCV000430949 RCV000432206 RCV000432863 RCV000436862 RCV000438186 RCV000437472 RCV000438834 RCV000438677 RCV000444193 RCV000444980 RCV002356518 RCV002524699 RCV004022237
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.746G>T (p.Arg249Met)	SNV Germline/somatic	Chr17:7674217	Conflicting classifications of pathogenicity	Squamous cell carcinoma of the skin Gastric adenocarcinoma Hepatocellular carcinoma Small cell lung carcinoma Lung adenocarcinoma Malignant neoplasm of body of uterus Glioblastoma Ovarian serous cystadenocarcinoma Medulloblastoma Prostate adenocarcinoma Squamous cell carcinoma of the head and neck Carcinoma of esophagus Squamous cell lung carcinoma Uterine carcinosarcoma Pancreatic adenocarcinoma Li-Fraumeni syndrome Neoplasm of ovary Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603070	rs_587782329	5 SubmittersRCV000419533 RCV000420945 RCV000421561 RCV000420239 RCV000422393 RCV000430463 RCV000434651 RCV000428988 RCV000429799 RCV000439247 RCV000437240 RCV000431805 RCV000445070 RCV000445103 RCV000440059 RCV000690948 RCV000782360 RCV004022239
NM_000546.6(TP53):c.745A>G (p.Arg249Gly)	SNV Germline/somatic	Chr17:7674218	Conflicting classifications of pathogenicity	Gastric adenocarcinoma Prostate adenocarcinoma Carcinoma of esophagus Lung adenocarcinoma Uterine carcinosarcoma Hepatocellular carcinoma Glioblastoma Squamous cell lung carcinoma Squamous cell carcinoma of the head and neck Small cell lung carcinoma Pancreatic adenocarcinoma Malignant neoplasm of body of uterus Squamous cell carcinoma of the skin Ovarian serous cystadenocarcinoma Medulloblastoma Condition: not provided Neoplasm of ovary Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603071	rs_587782082	7 SubmittersRCV000419254 RCV000418381 RCV000423993 RCV000426656 RCV000421216 RCV000427933 RCV000427287 RCV000429532 RCV000428633 RCV000436273 RCV000438863 RCV000436898 RCV000441694 RCV000444068 RCV000437517 RCV000581522 RCV000785305 RCV001026460 RCV000467567 RCV002289533
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.845G>C (p.Arg282Pro)	SNV Germline/somatic	Chr17:7673775	Pathogenic/Likely pathogenic	Neoplasm of brain Non-Hodgkin lymphoma Squamous cell carcinoma of the skin Gastric adenocarcinoma Transitional cell carcinoma of the bladder Lung adenocarcinoma Ovarian serous cystadenocarcinoma Malignant melanoma of skin Papillary renal cell carcinoma type 1 Glioblastoma Prostate adenocarcinoma Hepatocellular carcinoma Pancreatic adenocarcinoma Squamous cell lung carcinoma Malignant neoplasm of body of uterus Carcinoma of esophagus Neoplasm of the large intestine Breast neoplasm Squamous cell carcinoma of the head and neck Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 12 conditions	Criteria Provided Multiple Submitters No Conflicts	CA16603074	rs_730882008	8 SubmittersRCV000417824 RCV000417919 RCV000419006 RCV000424978 RCV000423005 RCV000426071 RCV000423789 RCV000425389 RCV000427957 RCV000428608 RCV000432620 RCV000434763 RCV000435036 RCV000433722 RCV000438637 RCV000440221 RCV000441023 RCV000441861 RCV000442220 RCV000492764 RCV000709402 RCV002289536 RCV002502456
NM_000546.6(TP53):c.722C>A (p.Ser241Tyr)	SNV Germline/somatic	Chr17:7674241	Pathogenic/Likely pathogenic	Carcinoma of esophagus Glioblastoma Uterine carcinosarcoma Malignant neoplasm of body of uterus Pancreatic adenocarcinoma Squamous cell carcinoma of the skin Neoplasm of brain Squamous cell carcinoma of the head and neck Malignant melanoma of skin Lung adenocarcinoma Ovarian serous cystadenocarcinoma Breast neoplasm Papillary renal cell carcinoma, sporadic Non-Hodgkin lymphoma Papillary renal cell carcinoma type 1 Neoplasm of the large intestine Brainstem glioma Gallbladder carcinoma Transitional cell carcinoma of the bladder Neoplasm of ovary Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16603078	rs_28934573	6 SubmittersRCV000418625 RCV000419713 RCV000420813 RCV000421131 RCV000426095 RCV000424972 RCV000430014 RCV000423572 RCV000425344 RCV000430987 RCV000432092 RCV000436296 RCV000437363 RCV000431755 RCV000441902 RCV000438864 RCV000440216 RCV000441261 RCV000441922 RCV000785454 RCV001053974 RCV001576591 RCV002289538 RCV002289539
NM_000546.6(TP53):c.721T>G (p.Ser241Ala)	SNV Germline/somatic	Chr17:7674242	Conflicting classifications of pathogenicity	Carcinoma of esophagus Neoplasm of the large intestine Neoplasm of brain Uterine carcinosarcoma Gallbladder carcinoma Non-Hodgkin lymphoma Malignant melanoma of skin Brainstem glioma Malignant neoplasm of body of uterus Breast neoplasm Glioblastoma Papillary renal cell carcinoma type 1 Squamous cell carcinoma of the head and neck Ovarian serous cystadenocarcinoma Pancreatic adenocarcinoma Papillary renal cell carcinoma, sporadic Squamous cell carcinoma of the skin Lung adenocarcinoma Transitional cell carcinoma of the bladder Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603080	rs_1057520002	5 SubmittersRCV000418366 RCV000419457 RCV000422775 RCV000420564 RCV000423557 RCV000425684 RCV000424609 RCV000426866 RCV000429686 RCV000432077 RCV000434790 RCV000434877 RCV000437125 RCV000435947 RCV000440449 RCV000441961 RCV000441702 RCV000441931 RCV000443160 RCV001045859 RCV002374627 RCV004022242
NM_000546.6(TP53):c.373A>C (p.Thr125Pro)	SNV Germline/somatic	Chr17:7675996	Conflicting classifications of pathogenicity	Squamous cell carcinoma of the head and neck Neoplasm of the large intestine Transitional cell carcinoma of the bladder Malignant melanoma of skin Breast neoplasm Glioblastoma Brainstem glioma Gastric adenocarcinoma Small cell lung carcinoma Neoplasm of brain Acute myeloid leukemia Hepatocellular carcinoma Squamous cell carcinoma of the skin Ovarian serous cystadenocarcinoma Papillary renal cell carcinoma type 1 Lung adenocarcinoma Adrenal cortex carcinoma Squamous cell lung carcinoma Carcinoma of esophagus Pancreatic adenocarcinoma Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603081	rs_1057520003	4 SubmittersRCV000418295 RCV000417666 RCV000422630 RCV000423200 RCV000425049 RCV000426486 RCV000428307 RCV000427158 RCV000429194 RCV000432449 RCV000433906 RCV000434887 RCV000436394 RCV000434566 RCV000439620 RCV000437835 RCV000439813 RCV000442101 RCV000442185 RCV000443332 RCV001041773 RCV004022243 RCV004022244
NM_000546.6(TP53):c.374C>G (p.Thr125Arg)	SNV Germline/somatic	Chr17:7675995	Pathogenic/Likely pathogenic	Papillary renal cell carcinoma type 1 Squamous cell carcinoma of the skin Acute myeloid leukemia Carcinoma of esophagus Squamous cell lung carcinoma Neoplasm of the large intestine Lung adenocarcinoma Transitional cell carcinoma of the bladder Gastric adenocarcinoma Glioblastoma Breast neoplasm Pancreatic adenocarcinoma Adrenal cortex carcinoma Small cell lung carcinoma Hepatocellular carcinoma Neoplasm of brain Li-Fraumeni syndrome Brainstem glioma Malignant melanoma of skin Squamous cell carcinoma of the head and neck Ovarian serous cystadenocarcinoma Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16044089	rs_786201057	6 SubmittersRCV000423812 RCV000424026 RCV000429727 RCV000432131 RCV000434737 RCV000423368 RCV000442028 RCV000440628 RCV000430321 RCV000419385 RCV000419630 RCV000436286 RCV000436638 RCV000424710 RCV000425385 RCV000428977 RCV000524926 RCV000442755 RCV000436088 RCV000440402 RCV000442833 RCV000492090 RCV002289540
NM_000546.6(TP53):c.646G>T (p.Val216Leu)	SNV Germline/somatic	Chr17:7674885	Conflicting classifications of pathogenicity	Ovarian serous cystadenocarcinoma Neoplasm of brain Carcinoma of esophagus Glioblastoma Squamous cell carcinoma of the skin Lung adenocarcinoma Breast neoplasm Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Squamous cell lung carcinoma Neoplasm of ovary Pancreatic adenocarcinoma Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603084	rs_730882025	6 SubmittersRCV000417716 RCV000420083 RCV000422099 RCV000426649 RCV000428855 RCV000427972 RCV000431215 RCV000439081 RCV000437749 RCV000437980 RCV000785309 RCV000442710 RCV001042741 RCV003321589 RCV004022246 RCV002365461
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_000546.6(TP53):c.658T>C (p.Tyr220His)	SNV Germline/somatic	Chr17:7674873	Pathogenic/Likely pathogenic	Breast neoplasm Ovarian serous cystadenocarcinoma Glioblastoma Prostate adenocarcinoma Hepatocellular carcinoma Malignant melanoma of skin Papillary renal cell carcinoma, sporadic Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma Transitional cell carcinoma of the bladder Small cell lung carcinoma Neoplasm of brain Papillary renal cell carcinoma type 1 Neoplasm of the large intestine Lung adenocarcinoma Uterine carcinosarcoma Pancreatic adenocarcinoma Gastric adenocarcinoma Malignant neoplasm of body of uterus Neoplasm of ovary Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA002135	rs_530941076	7 SubmittersRCV000417798 RCV000420004 RCV000420142 RCV000422371 RCV000422197 RCV000425148 RCV000435010 RCV000430823 RCV000431992 RCV000429815 RCV000438238 RCV000431076 RCV000436002 RCV000433089 RCV000444451 RCV000444634 RCV000439425 RCV000440468 RCV000440668 RCV000785254 RCV000566866 RCV001215103 RCV004022253 RCV003476013
NM_000546.6(TP53):c.658T>A (p.Tyr220Asn)	SNV Germline/somatic	Chr17:7674873	Conflicting classifications of pathogenicity	Squamous cell carcinoma of the head and neck Glioblastoma Small cell lung carcinoma Lung adenocarcinoma Breast neoplasm Neoplasm of brain Neoplasm of the large intestine Uterine carcinosarcoma Malignant melanoma of skin Ovarian serous cystadenocarcinoma Pancreatic adenocarcinoma Transitional cell carcinoma of the bladder Papillary renal cell carcinoma, sporadic Malignant neoplasm of body of uterus Hepatocellular carcinoma Li-Fraumeni syndrome Condition: not provided Prostate adenocarcinoma Squamous cell lung carcinoma Gastric adenocarcinoma Li-Fraumeni syndrome 1 Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603101	rs_530941076	5 SubmittersRCV000419702 RCV000424584 RCV000423767 RCV000426310 RCV000429130 RCV000427847 RCV000429300 RCV000432093 RCV000434035 RCV000434427 RCV000437403 RCV000438679 RCV000438838 RCV000439357 RCV000443812 RCV001313857 RCV001575028 RCV000419021 RCV000419523 RCV000421037 RCV004022254 RCV000438068 RCV000570507
NM_000546.6(TP53):c.658T>G (p.Tyr220Asp)	SNV Germline/somatic	Chr17:7674873	Conflicting classifications of pathogenicity	Breast neoplasm Neoplasm of the large intestine Malignant melanoma of skin Transitional cell carcinoma of the bladder Ovarian serous cystadenocarcinoma Small cell lung carcinoma Hepatocellular carcinoma Uterine carcinosarcoma Gastric adenocarcinoma Papillary renal cell carcinoma, sporadic Papillary renal cell carcinoma type 1 Pancreatic adenocarcinoma Neoplasm of brain Squamous cell carcinoma of the head and neck Malignant neoplasm of body of uterus Prostate adenocarcinoma Lung adenocarcinoma Li-Fraumeni syndrome Squamous cell lung carcinoma Glioblastoma Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603102	rs_530941076	3 SubmittersRCV000417982 RCV000418575 RCV000418779 RCV000422783 RCV000427506 RCV000426793 RCV000428144 RCV000431034 RCV000430837 RCV000433449 RCV000434918 RCV000436457 RCV000437034 RCV000441127 RCV000440413 RCV000444915 RCV000444073 RCV001851023 RCV000424311 RCV000425315 RCV004022255
NM_000546.6(TP53):c.701A>C (p.Tyr234Ser)	SNV Germline/somatic	Chr17:7674262	Conflicting classifications of pathogenicity	Carcinoma of esophagus Gastric adenocarcinoma Ovarian serous cystadenocarcinoma Squamous cell lung carcinoma Pancreatic adenocarcinoma Glioblastoma Squamous cell carcinoma of the head and neck Adrenal cortex carcinoma Breast neoplasm Transitional cell carcinoma of the bladder Neoplasm of the large intestine Prostate adenocarcinoma Small cell lung carcinoma Hepatocellular carcinoma Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16603103	rs_587780073	3 SubmittersRCV000421263 RCV000421924 RCV000423467 RCV000427293 RCV000430039 RCV000430207 RCV000431511 RCV000433051 RCV000437540 RCV000439556 RCV000440245 RCV000444569 RCV000443862 RCV000444596 RCV001025931 RCV001341542
NM_000546.6(TP53):c.700T>C (p.Tyr234His)	SNV Germline/somatic	Chr17:7674263	Pathogenic/Likely pathogenic	Gastric adenocarcinoma Small cell lung carcinoma Hepatocellular carcinoma Ovarian serous cystadenocarcinoma Glioblastoma Adrenal cortex carcinoma Transitional cell carcinoma of the bladder Carcinoma of esophagus Prostate adenocarcinoma Pancreatic adenocarcinoma Breast neoplasm Neoplasm of the large intestine Squamous cell lung carcinoma Hereditary cancer-predisposing syndrome Squamous cell carcinoma of the head and neck Li-Fraumeni syndrome Neoplasm of ovary Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603104	rs_864622237	6 SubmittersRCV000418604 RCV000418790 RCV000419222 RCV000421640 RCV000427499 RCV000426894 RCV000428839 RCV000428164 RCV000431867 RCV000436907 RCV000438411 RCV000439967 RCV000441352 RCV000492782 RCV000437128 RCV000530551 RCV000785304 RCV002289544
NM_000546.6(TP53):c.700T>A (p.Tyr234Asn)	SNV Germline/somatic	Chr17:7674263	Pathogenic	Breast neoplasm Adrenal cortex carcinoma Transitional cell carcinoma of the bladder Carcinoma of esophagus Pancreatic adenocarcinoma Prostate adenocarcinoma Squamous cell lung carcinoma Hepatocellular carcinoma Glioblastoma Squamous cell carcinoma of the head and neck Ovarian serous cystadenocarcinoma Gastric adenocarcinoma Small cell lung carcinoma Neoplasm of the large intestine Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16603105	rs_864622237	3 SubmittersRCV000417830 RCV000418444 RCV000423653 RCV000428072 RCV000426109 RCV000426512 RCV000426723 RCV000433276 RCV000434769 RCV000436114 RCV000436336 RCV000439167 RCV000444101 RCV000444893 RCV000809457 RCV001025925
NM_000051.4(ATM):c.8535G>A (p.Trp2845Ter)	SNV Germline	Chr11:108345859	Pathogenic/Likely pathogenic	Ataxia-telangiectasia syndrome Glioblastoma Condition: not provided Familial cancer of breast	Criteria Provided Multiple Submitters No Conflicts		rs_1555138291	5 SubmittersRCV000671076 RCV000722036 RCV000991563 RCV003465507
NM_022552.5(DNMT3A):c.2710C>T (p.Pro904Ser)	SNV Somatic	Chr2:25234308	Likely pathogenic	Glioblastoma	No Assertion Criteria Provided		rs_1558650888	1 SubmittersRCV000785978