Total 288 pathogenic variants reported for Papillary renal cell carcinoma

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000551.4(VHL):c.548C>A (p.Ser183Ter)	SNV Germline/somatic	Chr3:10149871	Pathogenic	Papillary renal cell carcinoma type 1 Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020473	rs_5030823	6 SubmittersRCV000002299 RCV000208867 RCV000703889 RCV003162205
NM_000551.4(VHL):c.481C>T (p.Arg161Ter)	SNV Germline/somatic	Chr3:10149804	Pathogenic	Von Hippel-Lindau syndrome Condition: not provided Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Familial infantile myasthenia	Criteria Provided Multiple Submitters No Conflicts	CA020408	rs_5030818	13 SubmittersRCV000002301 RCV000161091 RCV000437445 RCV000492225 RCV000791367 RCV001280922
NM_000551.4(VHL):c.499C>T (p.Arg167Trp)	SNV Germline/somatic	Chr3:10149822	Pathogenic/Likely pathogenic	Pheochromocytoma Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Condition: not provided Papillary renal cell carcinoma type 1 Von Hippel-Lindau syndrome Chuvash polycythemia Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome Pheochromocytoma Chuvash polycythemia Chuvash polycythemia	Criteria Provided Multiple Submitters No Conflicts	CA020450	rs_5030820	16 SubmittersRCV000002303 RCV000002302 RCV000132159 RCV000213079 RCV000435817 RCV000627746 RCV000763092 RCV003992144
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)	SNV Germline	Chr3:10149921	Conflicting classifications of pathogenicity	Chuvash polycythemia not specified Von Hippel-Lindau syndrome Condition: not provided Acute leukemia of ambiguous lineage Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA020510	rs_28940298	18 SubmittersRCV000002320 RCV000122262 RCV000148922 RCV000161094 RCV000722031 RCV000574264 RCV000627742 RCV002247239
NM_000551.4(VHL):c.574C>T (p.Pro192Ser)	SNV Germline	Chr3:10149897	Conflicting classifications of pathogenicity	Chuvash polycythemia Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Pheochromocytoma Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA020501	rs_28940300	8 SubmittersRCV000002322 RCV000236065 RCV000704063 RCV001024480 RCV002490296 RCV003996075
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.814G>T (p.Val272Leu)	SNV Germline/somatic	Chr17:7673806	Likely pathogenic	Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Squamous cell carcinoma of the skin Medulloblastoma Multiple myeloma Li-Fraumeni syndrome Breast neoplasm Gastric adenocarcinoma Squamous cell carcinoma of the head and neck Transitional cell carcinoma of the bladder Neoplasm of the large intestine Ovarian serous cystadenocarcinoma Pancreatic adenocarcinoma Papillary renal cell carcinoma type 1 Lung adenocarcinoma Malignant neoplasm of body of uterus	Criteria Provided Multiple Submitters No Conflicts	CA000430	rs_121912657	6 SubmittersRCV000013152 RCV000164988 RCV000427077 RCV000437706 RCV000443589 RCV001221969 RCV000420507 RCV000417682 RCV000426429 RCV000428361 RCV000431193 RCV000432989 RCV000434905 RCV000437100 RCV000439021 RCV000443570
NM_000546.6(TP53):c.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.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_000458.4(HNF1B):c.529C>T (p.Arg177Ter)	SNV Germline	Chr17:37739455	Pathogenic	Renal cysts and diabetes syndrome Condition: not provided Nonpapillary renal cell carcinoma Renal cysts and diabetes syndrome Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA122597		7 SubmittersRCV000013470 RCV001851826 RCV002496342
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)	SNV Germline	Chr17:37731814	Pathogenic	Renal cysts and diabetes syndrome Autosomal dominant medullary cystic kidney disease with or without hyperuricemia Condition: not provided Nonpapillary renal cell carcinoma Renal cysts and diabetes syndrome Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts	CA122601		9 SubmittersRCV000013475 RCV001328308 RCV002472930 RCV002496343
NM_000458.4(HNF1B):c.544+1G>A	SNV Germline	Chr17:37739439	Pathogenic	Renal cysts and diabetes syndrome Condition: not provided Nonpapillary renal cell carcinoma Renal cysts and diabetes syndrome Type 2 diabetes mellitus	Criteria Provided Multiple Submitters No Conflicts			7 SubmittersRCV000013478 RCV001794444 RCV002504781
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)	SNV Germline	Chr17:37739490	Pathogenic/Likely pathogenic	Renal cysts and diabetes syndrome Nonpapillary renal cell carcinoma Renal cysts and diabetes syndrome Type 2 diabetes mellitus Type 2 diabetes mellitus Condition: not provided Maturity onset diabetes mellitus in young	Criteria Provided Multiple Submitters No Conflicts	CA122605		10 SubmittersRCV000013482 RCV002482860 RCV002466400 RCV001659694 RCV002051783
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.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.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_000245.4(MET):c.3392T>C (p.Met1131Thr)	SNV Germline	Chr7:116778827	Pathogenic	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA256991	rs_121913668	3 SubmittersRCV000014895 RCV000565834 RCV002228027
NM_000245.4(MET):c.3562G>T (p.Val1188Leu)	SNV Germline	Chr7:116782027	Pathogenic	Papillary renal cell carcinoma type 1	No Assertion Criteria Provided	CA256994	rs_121913669	1 SubmittersRCV000014896
NM_000245.4(MET):c.3658G>A (p.Val1220Ile)	SNV Germline	Chr7:116783329	Pathogenic/Likely pathogenic	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Condition: not provided Renal cell carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA256997	rs_121913670	5 SubmittersRCV000014897 RCV000221989 RCV001579843 RCV001376555
NM_000245.4(MET):c.3682G>A (p.Asp1228Asn)	SNV Germline/somatic	Chr7:116783353	Pathogenic/Likely pathogenic	Papillary renal cell carcinoma type 1 Carcinoma	No Assertion Criteria Provided	CA257000	rs_121913671	2 SubmittersRCV000014898 RCV000420939
NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys)	SNV Germline/somatic	Chr7:116783360	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Renal carcinoma Neoplasm Carcinoma Renal cell carcinoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA257003	rs_121913246	5 SubmittersRCV000014899 RCV000420374 RCV000430628 RCV000441479 RCV001851861 RCV002362584
NM_000245.4(MET):c.3583C>G (p.Leu1195Val)	SNV Somatic	Chr7:116782048	Pathogenic	Papillary renal cell carcinoma type 1	No Assertion Criteria Provided	CA257006	rs_121913673	1 SubmittersRCV000014900
NM_000245.4(MET):c.3281A>G (p.His1094Arg)	SNV Germline/somatic	Chr7:116777410	Pathogenic	Papillary renal cell carcinoma type 1 Condition: not provided Renal carcinoma Renal cell carcinoma Hereditary cancer-predisposing syndrome MET-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA221506	rs_121913243	8 SubmittersRCV000014901 RCV000079490 RCV000433739 RCV001376564 RCV002321481 RCV003407332
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_000142.5(FGFR3):c.746C>G (p.Ser249Cys)	SNV Germline/somatic	Chr4:1801841	Pathogenic	Thanatophoric dysplasia type 1 Cervical cancer Malignant tumor of urinary bladder Seborrheic keratosis Squamous cell lung carcinoma Papillary renal cell carcinoma, sporadic Urinary bladder carcinoma Carcinoma Squamous cell carcinoma of the head and neck Condition: not provided Connective tissue disorder See cases Malignant neoplastic disease FGFR3-related disorder Transitional cell carcinoma of the bladder Achondroplasia 14 conditions	Criteria Provided Multiple Submitters No Conflicts	CA126380	rs_121913483	24 SubmittersRCV000017742 RCV000017743 RCV000017744 RCV000017745 RCV000420501 RCV000417690 RCV000431989 RCV000424421 RCV000438171 RCV000297175 RCV002276554 RCV003155033 RCV003758684 RCV004532377 RCV000435437 RCV003989294 RCV000763119
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys)	SNV Germline/somatic	Chr4:1804372	Pathogenic	Thanatophoric dysplasia type 1 Condition: not provided Urinary bladder carcinoma Carcinoma Myeloproliferative disorder Papillary renal cell carcinoma, sporadic Transitional cell carcinoma of the bladder See cases	Criteria Provided Multiple Submitters No Conflicts	CA341413	rs_121913485	17 SubmittersRCV000017751 RCV000255235 RCV000442248 RCV000419796 RCV000421104 RCV000427428 RCV000434824 RCV003155034
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_003000.3(SDHB):c.32G>A (p.Arg11His)	SNV Germline	Chr1:17053988	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma Hereditary pheochromocytoma-paraganglioma Hereditary cancer-predisposing syndrome not specified Paragangliomas 4 Gastrointestinal stromal tumor Pheochromocytoma Paraganglioma Condition: not provided Pheochromocytoma Gastrointestinal stromal tumor Carney-Stratakis syndrome Paragangliomas 4 Pheochromocytoma Mitochondrial complex 2 deficiency, nuclear type 4 Paraganglioma SDHB-related disorder	Criteria Provided Conflicting Classifications	CA015753	rs_111430410	15 SubmittersRCV000148868 RCV000232749 RCV000505348 RCV000568010 RCV000607044 RCV000662963 RCV000986269 RCV001253761 RCV001731321 RCV002250465 RCV002477028 RCV002250466 RCV004532428
NM_000458.4(HNF1B):c.73G>T (p.Val25Leu)	SNV Germline/somatic	Chr17:37744812	Conflicting classifications of pathogenicity	Renal cysts and diabetes syndrome not specified Condition: not provided Nonpapillary renal cell carcinoma Maturity onset diabetes mellitus in young	Criteria Provided Conflicting Classifications	CA214365	rs_139107479	10 SubmittersRCV000030533 RCV000345835 RCV002054524 RCV003315522 RCV002250467
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_000245.4(MET):c.2975C>T (p.Thr992Ile)	SNV Germline/somatic	Chr7:116771936	Conflicting classifications of pathogenicity	Condition: not provided not specified Papillary renal cell carcinoma type 1 Congenital diaphragmatic hernia Hereditary cancer-predisposing syndrome Carcinoma Neoplasm Renal cell carcinoma Classic Hodgkin lymphoma MET-related disorder	Criteria Provided Conflicting Classifications	CA160417	rs_56391007	27 SubmittersRCV000034529 RCV000121340 RCV000123120 RCV000203290 RCV000163261 RCV000421063 RCV000431770 RCV001507182 RCV002227927 RCV003891465
NM_000245.4(MET):c.3356G>C (p.Gly1119Ala)	SNV Germline	Chr7:116778791	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1 Renal cell carcinoma Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications	CA215657	rs_201037977	6 SubmittersRCV000034530 RCV000569927 RCV000697527 RCV001328503 RCV003460544
NM_000245.4(MET):c.504G>T (p.Glu168Asp)	SNV Germline	Chr7:116699588	Conflicting classifications of pathogenicity	Condition: not provided not specified Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma	Criteria Provided Conflicting Classifications	CA147098	rs_55985569	21 SubmittersRCV000034532 RCV000079496 RCV000119201 RCV000129671 RCV001507196
NM_000245.4(MET):c.967A>G (p.Ser323Gly)	SNV Germline	Chr7:116700051	Conflicting classifications of pathogenicity	Condition: not provided Papillary renal cell carcinoma type 1 not specified Hereditary cancer-predisposing syndrome Renal cell carcinoma MET-related disorder	Criteria Provided Conflicting Classifications	CA215665	rs_201467281	11 SubmittersRCV000034535 RCV000123136 RCV000599960 RCV000563453 RCV001507142 RCV003944878
NM_000551.4(VHL):c.319C>G (p.Arg107Gly)	SNV Germline	Chr3:10142166	Pathogenic/Likely pathogenic	Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020257	rs_397516440	3 SubmittersRCV000036542 RCV000763091 RCV002321506
NM_004333.6(BRAF):c.1741A>C (p.Asn581His)	SNV Germline/somatic	Chr7:140754187	Conflicting classifications of pathogenicity	Multiple myeloma Malignant melanoma of skin Papillary renal cell carcinoma, sporadic Ovarian serous cystadenocarcinoma Lung adenocarcinoma Neoplasm of the large intestine RASopathy BRAF-related disorder	Criteria Provided Conflicting Classifications	CA284657	rs_180177040	3 SubmittersRCV000422257 RCV000439352 RCV000425037 RCV000433029 RCV000431645 RCV000441971 RCV001363294 RCV003390750
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys)	SNV Germline/somatic	Chr1:114713909	Conflicting classifications of pathogenicity	Large congenital melanocytic nevus Neurocutaneous melanocytosis Non-small cell lung carcinoma Nasopharyngeal neoplasm Glioblastoma Transitional cell carcinoma of the bladder Malignant neoplasm of body of uterus Malignant melanoma of skin Ovarian serous cystadenocarcinoma Neuroblastoma Multiple myeloma Papillary renal cell carcinoma type 1 Lung adenocarcinoma Gastric adenocarcinoma Neoplasm of the large intestine Vascular Tumors Including Pyogenic Granuloma Ras Inhibitor response RASopathy Condition: not provided B-cell chronic lymphocytic leukemia Acute myeloid leukemia Adrenal cortex carcinoma Melanoma Neoplasm of brain Hepatocellular carcinoma	Criteria Provided Conflicting Classifications	CA151263	rs_121913254	7 SubmittersRCV000114746 RCV000144964 RCV000425440 RCV000426976 RCV000428264 RCV000428499 RCV000436588 RCV000436806 RCV000443974 RCV000423656 RCV000444882 RCV000423012 RCV000433274 RCV000441348 RCV000444538 RCV000662267 RCV000626456 RCV000696329 RCV001092890 RCV000418269 RCV000418907 RCV000431313 RCV000434388 RCV000435041 RCV000441559
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala)	SNV Germline/somatic	Chr2:47416398	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1 Condition: not provided Lynch syndrome 1 Mismatch repair cancer syndrome 1 Muir-Torré syndrome Lynch syndrome 1 Hereditary nonpolyposis colorectal neoplasms Hereditary nonpolyposis colon cancer not specified	Criteria Provided Conflicting Classifications	CA016975	rs_267607939	15 SubmittersRCV000128932 RCV000148635 RCV000588936 RCV000764423 RCV000986664 RCV001085377 RCV002279934 RCV001844030
NM_000245.4(MET):c.1076G>A (p.Arg359Gln)	SNV Germline	Chr7:116700160	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Condition: not provided Hereditary cancer-predisposing syndrome Renal cell carcinoma not specified	Criteria Provided Conflicting Classifications	CA221494	rs_201274041	8 SubmittersRCV000123109 RCV000079480 RCV000567262 RCV001312208 RCV002267846
NM_144997.7(FLCN):c.1533G>A (p.Trp511Ter)	SNV Germline	Chr17:17214990	Pathogenic	Condition: not provided Birt-Hogg-Dube syndrome Colorectal cancer Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome Potocki-Lupski syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA224159	rs_398124530	6 SubmittersRCV000082630 RCV000239664 RCV002505009 RCV002399473
NM_144997.7(FLCN):c.250-2A>G	SNV Germline	Chr17:17226324	Pathogenic/Likely pathogenic	Condition: not provided Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Colorectal cancer Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome Potocki-Lupski syndrome FLCN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA224166	rs_398124533	12 SubmittersRCV000082633 RCV000239670 RCV000492149 RCV002490730 RCV003421978
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_000245.4(MET):c.1039G>A (p.Ala347Thr)	SNV Germline	Chr7:116700123	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 not specified Hereditary cancer-predisposing syndrome Condition: not provided Renal cell carcinoma Hereditary cancer Autosomal recessive nonsyndromic hearing loss 97 MET-related disorder	Criteria Provided Conflicting Classifications	CA160433	rs_200074800	12 SubmittersRCV000119117 RCV000121345 RCV000567774 RCV000657129 RCV001420970 RCV003492511 RCV003467064 RCV003894956
NM_144997.7(FLCN):c.134C>G (p.Ala45Gly)	SNV Germline	Chr17:17228004	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Birt-Hogg-Dube syndrome Potocki-Lupski syndrome Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Carcinoma of colon FLCN-related disorder	Criteria Provided Conflicting Classifications	CA159761	rs_556510460	5 SubmittersRCV000121099 RCV000163762 RCV000543424 RCV000765335 RCV003952599
NM_144997.7(FLCN):c.1283C>T (p.Pro428Leu)	SNV Germline	Chr17:17216397	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Birt-Hogg-Dube syndrome Potocki-Lupski syndrome Colorectal cancer Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA159789	rs_199889477	5 SubmittersRCV000121110 RCV000568600 RCV000635530 RCV002483217
NM_144997.7(FLCN):c.1049G>A (p.Arg350Gln)	SNV Germline	Chr17:17219032	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Condition: not provided Birt-Hogg-Dube syndrome Potocki-Lupski syndrome Colorectal cancer Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA159798	rs_190786280	8 SubmittersRCV000121113 RCV000573718 RCV000535074 RCV001562933 RCV002492423
NM_000245.4(MET):c.71G>A (p.Gly24Glu)	SNV Germline	Chr7:116699155	Conflicting classifications of pathogenicity	not specified Lymphedema Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma Condition: not provided MET-related disorder	Criteria Provided Conflicting Classifications	CA160439	rs_180985111	10 SubmittersRCV000121347 RCV000148614 RCV000167873 RCV000210818 RCV001450079 RCV001560219 RCV003965017
NM_000245.4(MET):c.1771C>T (p.Arg591Trp)	SNV Germline	Chr7:116755424	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1 Condition: not provided Renal cell carcinoma Autosomal recessive nonsyndromic hearing loss 97 MET-related disorder	Criteria Provided Conflicting Classifications	CA332158	rs_45602940	10 SubmittersRCV000121353 RCV000210762 RCV000206655 RCV001562214 RCV001293429 RCV004567048 RCV003945083
NM_000245.4(MET):c.1972G>A (p.Val658Ile)	SNV Germline	Chr7:116757644	Conflicting classifications of pathogenicity	not specified Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma Condition: not provided	Criteria Provided Conflicting Classifications	CA160456	rs_587778446	5 SubmittersRCV000121354 RCV000303828 RCV001013805 RCV001312221 RCV001775598
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_000551.4(VHL):c.3G>A (p.Met1Ile)	SNV Germline	Chr3:10141850	Conflicting classifications of pathogenicity	not specified Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma	Criteria Provided Conflicting Classifications	CA020331	rs_578091032	11 SubmittersRCV000122260 RCV000409700 RCV000492595 RCV000467198 RCV000657025 RCV002483231
NM_000245.4(MET):c.1412G>A (p.Gly471Glu)	SNV Germline	Chr7:116739969	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Condition: not provided Renal cell carcinoma not specified	Criteria Provided Conflicting Classifications	CA189064	rs_373312981	7 SubmittersRCV000123113 RCV000163732 RCV001544764 RCV001358784 RCV002267864
NM_000245.4(MET):c.4007G>A (p.Arg1336Gln)	SNV Germline	Chr7:116795958	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma Condition: not provided not specified Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications	CA332674	rs_369312680	7 SubmittersRCV000123123 RCV001021780 RCV002228636 RCV003318551 RCV002465526 RCV004567065
NM_000245.4(MET):c.467C>T (p.Ser156Leu)	SNV Germline	Chr7:116699551	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma Condition: not provided not specified Hereditary cancer MET-related disorder	Criteria Provided Conflicting Classifications	CA332680	rs_56311081	8 SubmittersRCV000123126 RCV000572531 RCV001450089 RCV001557296 RCV002465527 RCV003492549 RCV003975093
NM_000245.4(MET):c.689C>T (p.Thr230Met)	SNV Germline	Chr7:116699773	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Condition: not provided Renal cell carcinoma Hereditary cancer-predisposing syndrome Autosomal recessive nonsyndromic hearing loss 97 not specified	Criteria Provided Conflicting Classifications	CA332692	rs_587780740	6 SubmittersRCV000123131 RCV001753507 RCV002228448 RCV002371957 RCV003467092 RCV002465528
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr)	SNV Germline/somatic	Chr17:7675190	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Pancreatic adenocarcinoma Breast neoplasm Neoplasm of brain Multiple myeloma Squamous cell lung carcinoma Malignant neoplasm of body of uterus Lung adenocarcinoma Prostate adenocarcinoma Acute myeloid leukemia Squamous cell carcinoma of the head and neck Papillary renal cell carcinoma type 1 Neoplasm of the large intestine Li-Fraumeni syndrome Neoplasm of ovary Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA000174	rs_587781288	7 SubmittersRCV000128975 RCV000418811 RCV000427674 RCV000437920 RCV000439333 RCV000427068 RCV000428004 RCV000429076 RCV000444430 RCV000436530 RCV000417795 RCV000423419 RCV000435449 RCV000472876 RCV000785510 RCV001582600 RCV002288619
NM_000546.6(TP53):c.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_144997.7(FLCN):c.499C>T (p.Gln167Ter)	SNV Germline	Chr17:17224041	Pathogenic	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Condition: not provided Familial spontaneous pneumothorax Potocki-Lupski syndrome Colorectal cancer Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome	Criteria Provided Multiple Submitters No Conflicts	CA166645	rs_587782069	6 SubmittersRCV000130556 RCV000239654 RCV000255173 RCV002498642
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_000245.4(MET):c.406G>A (p.Val136Ile)	SNV Germline	Chr7:116699490	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1 Condition: not provided Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia Papillary renal cell carcinoma type 1 Breast carcinoma Renal cell carcinoma MET-related disorder not specified	Criteria Provided Conflicting Classifications	CA167281	rs_199701987	12 SubmittersRCV000130870 RCV000199439 RCV000484898 RCV000515234 RCV001262296 RCV001328509 RCV003415953 RCV003320572
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_004333.6(BRAF):c.1742A>G (p.Asn581Ser)	SNV Somatic	Chr7:140753393	Likely pathogenic	Non-small cell lung carcinoma Neoplasm of the large intestine Melanoma Lung adenocarcinoma Multiple myeloma Chronic myelogenous leukemia, BCR-ABL1 positive Malignant melanoma of skin Ovarian serous cystadenocarcinoma Papillary renal cell carcinoma, sporadic	Criteria Provided Single Submitter	CA180747	rs_121913370	3 SubmittersRCV000154399 RCV000419529 RCV000421956 RCV000430462 RCV000438933 RCV000440055 RCV000429356 RCV000432607 RCV000440277
NM_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_000245.4(MET):c.1081G>T (p.Ala361Ser)	SNV Germline	Chr7:116700165	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Renal cell carcinoma Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia Papillary renal cell carcinoma type 1 Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications	CA192400	rs_786202310	4 SubmittersRCV000165054 RCV001218524 RCV002498817 RCV003468731
NM_000245.4(MET):c.1669A>G (p.Thr557Ala)	SNV Germline	Chr7:116740993	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97 Hepatocellular carcinoma Osteofibrous dysplasia Papillary renal cell carcinoma type 1 Renal cell carcinoma Condition: not provided MET-related disorder Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications	CA188720	rs_374733251	8 SubmittersRCV000163595 RCV000167933 RCV000765920 RCV001293448 RCV001812140 RCV003398834 RCV003467280
NM_000245.4(MET):c.2825C>T (p.Ser942Leu)	SNV Germline	Chr7:116771592	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1 Condition: not provided Renal cell carcinoma Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications	CA195544	rs_375576430	5 SubmittersRCV000166311 RCV000463889 RCV001589036 RCV001293426 RCV003462209
NM_000245.4(MET):c.3274G>A (p.Val1092Ile)	SNV Germline/somatic	Chr7:116777403	Pathogenic	Hereditary cancer-predisposing syndrome Carcinoma Neoplasm Papillary renal cell carcinoma type 1 Renal cell carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA193972	rs_786202724	4 SubmittersRCV000165679 RCV000443267 RCV000425188 RCV000709041 RCV001376633
NM_144997.7(FLCN):c.1635C>G (p.Asp545Glu)	SNV Germline	Chr17:17213760	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome not specified Condition: not provided Birt-Hogg-Dube syndrome Potocki-Lupski syndrome Nonpapillary renal cell carcinoma Colorectal cancer Familial spontaneous pneumothorax	Criteria Provided Conflicting Classifications	CA188379	rs_760329266	7 SubmittersRCV000163471 RCV000231877 RCV002267903 RCV001539507 RCV002485010
NM_144997.7(FLCN):c.1283C>A (p.Pro428His)	SNV Germline	Chr17:17216397	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Condition: not provided Birt-Hogg-Dube syndrome Potocki-Lupski syndrome Nonpapillary renal cell carcinoma Colorectal cancer Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA189480	rs_199889477	6 SubmittersRCV000163906 RCV000529447 RCV001544699 RCV002492651 RCV004567235
NM_144997.7(FLCN):c.139G>C (p.Glu47Gln)	SNV Germline	Chr17:17227999	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Condition: not provided Potocki-Lupski syndrome Colorectal cancer Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA196505	rs_369115472	5 SubmittersRCV000166697 RCV000465657 RCV002280106 RCV002492672
NM_000546.6(TP53):c.814G>A (p.Val272Met)	SNV Germline/somatic	Chr17:7673806	Pathogenic	Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1 Transitional cell carcinoma of the bladder Squamous cell carcinoma of the skin Squamous cell carcinoma of the head and neck Lung adenocarcinoma Medulloblastoma Malignant neoplasm of body of uterus Neoplasm of the large intestine Breast neoplasm Li-Fraumeni syndrome Pancreatic adenocarcinoma Ovarian serous cystadenocarcinoma Gastric adenocarcinoma Multiple myeloma Neoplasm of ovary Li-Fraumeni syndrome 1 Condition: not provided	Reviewed By Expert Panel	CA000427	rs_121912657	8 SubmittersRCV000165304 RCV000418746 RCV000425268 RCV000426406 RCV000432177 RCV000436402 RCV000436602 RCV000434621 RCV000443071 RCV000443052 RCV000457645 RCV000424351 RCV000424542 RCV000434295 RCV000441086 RCV000785341 RCV001527085 RCV002243833
NM_000546.6(TP53):c.578A>T (p.His193Leu)	SNV Germline/somatic	Chr17:7674953	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Prostate adenocarcinoma Transitional cell carcinoma of the bladder Breast neoplasm Squamous cell carcinoma of the head and neck Uterine carcinosarcoma B-cell chronic lymphocytic leukemia Neoplasm of brain Hepatocellular carcinoma Brainstem glioma Pancreatic adenocarcinoma Carcinoma of esophagus Papillary renal cell carcinoma, sporadic Small cell lung carcinoma Ovarian serous cystadenocarcinoma Lung adenocarcinoma Neoplasm of the large intestine Malignant neoplasm of body of uterus Acute myeloid leukemia Squamous cell lung carcinoma Gastric adenocarcinoma Li-Fraumeni syndrome Neoplasm of ovary Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA000276	rs_786201838	5 SubmittersRCV000165315 RCV000422830 RCV000427615 RCV000432479 RCV000420523 RCV000437609 RCV000421777 RCV000441921 RCV000443734 RCV000428359 RCV000437660 RCV000419701 RCV000438323 RCV000421145 RCV000438373 RCV000439007 RCV000431198 RCV000426960 RCV000433537 RCV000430839 RCV000444673 RCV000697802 RCV000785542 RCV004019975
NM_000546.6(TP53):c.578A>G (p.His193Arg)	SNV Germline/somatic	Chr17:7674953	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Lung adenocarcinoma Uterine carcinosarcoma Pancreatic adenocarcinoma Prostate adenocarcinoma Small cell lung carcinoma Neoplasm of brain Breast neoplasm Acute myeloid leukemia Gastric adenocarcinoma Squamous cell lung carcinoma B-cell chronic lymphocytic leukemia Transitional cell carcinoma of the bladder Carcinoma of esophagus Papillary renal cell carcinoma, sporadic Brainstem glioma Squamous cell carcinoma of the head and neck Ovarian serous cystadenocarcinoma Malignant neoplasm of body of uterus Hepatocellular carcinoma Neoplasm of the large intestine Li-Fraumeni syndrome Neoplasm of ovary Li-Fraumeni syndrome 1 Adrenocortical carcinoma, hereditary	Criteria Provided Multiple Submitters No Conflicts	CA000274	rs_786201838	10 SubmittersRCV000164329 RCV000255425 RCV000423280 RCV000424475 RCV000425611 RCV000427767 RCV000433342 RCV000439433 RCV000418086 RCV000440903 RCV000418288 RCV000445029 RCV000417979 RCV000428340 RCV000423052 RCV000439827 RCV000434391 RCV000429618 RCV000434549 RCV000445148 RCV000435651 RCV000435870 RCV000460847 RCV000785346 RCV002288732 RCV003474857
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr)	SNV Germline/somatic	Chr17:7675085	Pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Squamous cell lung carcinoma Breast neoplasm Acute myeloid leukemia Carcinoma of esophagus Papillary renal cell carcinoma type 1 Neoplasm of the large intestine Gastric adenocarcinoma Ovarian serous cystadenocarcinoma Prostate adenocarcinoma Lung adenocarcinoma Pancreatic adenocarcinoma Squamous cell carcinoma of the head and neck Transitional cell carcinoma of the bladder Hepatocellular carcinoma Neoplasm of brain Li-Fraumeni syndrome Familial ovarian cancer Li-Fraumeni syndrome 1 Squamous cell carcinoma TP53-related disorder Adrenocortical carcinoma, hereditary Adrenal cortex carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA000254	rs_786202962	10 SubmittersRCV000166045 RCV000255616 RCV000421421 RCV000429854 RCV000432068 RCV000424233 RCV000435778 RCV000437356 RCV000430147 RCV000441417 RCV000433025 RCV000441274 RCV000438398 RCV000418577 RCV000419236 RCV000422335 RCV000430568 RCV000461158 RCV001354219 RCV002288754 RCV003128588 RCV003407616 RCV003474872 RCV003995473
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_000245.4(MET):c.40C>T (p.Leu14Phe)	SNV Germline	Chr7:116699124	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Condition: not provided Renal cell carcinoma Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications	CA334069	rs_763344951	5 SubmittersRCV000167966 RCV000561286 RCV001564694 RCV001293449 RCV003468821
NM_000245.4(MET):c.1132G>A (p.Val378Ile)	SNV Germline	Chr7:116700216	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma Condition: not provided Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications	CA334728	rs_749738523	6 SubmittersRCV000168398 RCV001009954 RCV001293437 RCV001562203 RCV003468833
NM_000245.4(MET):c.1715G>A (p.Ser572Asn)	SNV Germline	Chr7:116755368	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome not specified Renal cell carcinoma Hepatoblastoma MET-related disorder	Criteria Provided Conflicting Classifications	CA334713	rs_199771406	10 SubmittersRCV000168390 RCV000564000 RCV000610933 RCV001507175 RCV001843487 RCV003927559
NM_000245.4(MET):c.2909G>A (p.Arg970His)	SNV Germline	Chr7:116771870	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma Condition: not provided not specified Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications	CA334261	rs_45607832	7 SubmittersRCV000168093 RCV001017689 RCV001293451 RCV002281988 RCV002267924 RCV003468824
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_000458.4(HNF1B):c.226G>T (p.Gly76Cys)	SNV Germline	Chr17:37744659	Conflicting classifications of pathogenicity	not specified Renal cysts and diabetes syndrome Condition: not provided Congenital anomaly of kidney and urinary tract Nonpapillary renal cell carcinoma HNF1B-related disorder	Criteria Provided Conflicting Classifications	CA200314		13 SubmittersRCV000173138 RCV000369522 RCV000993276 RCV001328309 RCV003316074 RCV003947459
NM_000245.4(MET):c.632T>G (p.Leu211Trp)	SNV Germline	Chr7:116699716	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA337368	rs_45483396	5 SubmittersRCV000197671 RCV001025145 RCV001450055 RCV001706186 RCV003320598
NM_000245.4(MET):c.1451A>G (p.His484Arg)	SNV Germline	Chr7:116740008	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma Autosomal recessive nonsyndromic hearing loss 97 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA339400	rs_781545528	6 SubmittersRCV000200572 RCV001011655 RCV001293439 RCV003468909 RCV003148673 RCV003320597
NM_000245.4(MET):c.4075G>A (p.Val1359Ile)	SNV Germline	Chr7:116796026	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma Condition: not provided Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications	CA337278	rs_752669237	5 SubmittersRCV000197534 RCV000569392 RCV001358794 RCV003238734 RCV004567437
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.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_000245.4(MET):c.2555T>A (p.Met852Lys)	SNV Germline	Chr7:116763240	Conflicting classifications of pathogenicity	Renal cell carcinoma Condition: not provided Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1 Hepatocellular carcinoma Osteofibrous dysplasia Autosomal recessive nonsyndromic hearing loss 97 not specified	Criteria Provided Conflicting Classifications	CA349639	rs_369758288	5 SubmittersRCV000205486 RCV001775668 RCV002433900 RCV002503800 RCV003493494
NM_000551.4(VHL):c.464-2A>G	SNV Germline/somatic	Chr3:10149785	Pathogenic	Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA357046	rs_5030816	5 SubmittersRCV000208810 RCV000216737 RCV000824251 RCV001535844 RCV001542804
NM_000551.4(VHL):c.554A>G (p.Tyr185Cys)	SNV Germline	Chr3:10149877	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome Chuvash polycythemia Pheochromocytoma VHL-related disorder Chuvash polycythemia	Criteria Provided Conflicting Classifications	CA041601	rs_561874453	11 SubmittersRCV000208797 RCV000236099 RCV000565491 RCV000631260 RCV002485365 RCV003422117 RCV003462397
NM_144997.7(FLCN):c.1709G>A (p.Arg570His)	SNV Germline	Chr17:17213686	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Potocki-Lupski syndrome Birt-Hogg-Dube syndrome Colorectal cancer Condition: not provided	Criteria Provided Conflicting Classifications	CA8415911	rs_201056799	4 SubmittersRCV000213870 RCV000701876 RCV002494583 RCV001555199
NM_144997.7(FLCN):c.1364A>G (p.Glu455Gly)	SNV Germline	Chr17:17215253	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Potocki-Lupski syndrome Birt-Hogg-Dube syndrome Colorectal cancer Condition: not provided	Criteria Provided Conflicting Classifications	CA8416016	rs_199786696	5 SubmittersRCV000223022 RCV000687348 RCV002485418 RCV003128597
NM_144997.7(FLCN):c.779+1G>T	SNV Germline	Chr17:17222500	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Condition: not provided not specified Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome Potocki-Lupski syndrome Familial spontaneous pneumothorax Carcinoma of colon	Criteria Provided Multiple Submitters No Conflicts	CA8416321	rs_758175953	11 SubmittersRCV000218992 RCV000239675 RCV000255322 RCV000506237 RCV000762981
NM_000546.6(TP53):c.815T>G (p.Val272Gly)	SNV Germline/somatic	Chr17:7673805	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Breast neoplasm Malignant neoplasm of body of uterus Ovarian serous cystadenocarcinoma Gastric adenocarcinoma Pancreatic adenocarcinoma Squamous cell carcinoma of the skin Squamous cell carcinoma of the head and neck Multiple myeloma Neoplasm of the large intestine Transitional cell carcinoma of the bladder Lung adenocarcinoma Papillary renal cell carcinoma type 1 Medulloblastoma Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA10580918	rs_876660333	4 SubmittersRCV000220536 RCV000422297 RCV000421184 RCV000419845 RCV000420090 RCV000431226 RCV000441216 RCV000441467 RCV000427960 RCV000430105 RCV000421439 RCV000432569 RCV000439065 RCV000444129 RCV002515714 RCV004020685
NM_000546.6(TP53):c.715A>G (p.Asn239Asp)	SNV Germline/somatic	Chr17:7674248	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Gastric adenocarcinoma Lung adenocarcinoma Neoplasm of the large intestine Prostate adenocarcinoma Malignant neoplasm of body of uterus Hepatocellular carcinoma Breast neoplasm Uterine carcinosarcoma Squamous cell carcinoma of the head and neck Papillary renal cell carcinoma type 1 Ovarian serous cystadenocarcinoma Li-Fraumeni syndrome Malignant tumor of breast Condition: not provided Adrenocortical carcinoma, hereditary Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA10580926	rs_876660807	8 SubmittersRCV000223044 RCV000428477 RCV000421256 RCV000434302 RCV000423612 RCV000424282 RCV000441535 RCV000439114 RCV000426851 RCV000432300 RCV000433419 RCV000442741 RCV000560536 RCV001355898 RCV003137828 RCV003475037 RCV004020697
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.577C>T (p.His193Tyr)	SNV Germline/somatic	Chr17:7674954	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome B-cell chronic lymphocytic leukemia Neoplasm of brain Uterine carcinosarcoma Transitional cell carcinoma of the bladder Ovarian serous cystadenocarcinoma Papillary renal cell carcinoma, sporadic Hepatocellular carcinoma Brainstem glioma Malignant neoplasm of body of uterus Condition: not provided Gastric adenocarcinoma Pancreatic adenocarcinoma Carcinoma of esophagus Squamous cell carcinoma of the head and neck Prostate adenocarcinoma Lung adenocarcinoma Neoplasm of the large intestine Acute myeloid leukemia Breast neoplasm Squamous cell lung carcinoma Small cell lung carcinoma Li-Fraumeni syndrome Malignant tumor of urinary bladder Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA10580936	rs_876658468	7 SubmittersRCV000221478 RCV000424900 RCV000430089 RCV000436284 RCV000444740 RCV000445008 RCV000419469 RCV000419839 RCV000423524 RCV000426264 RCV000412758 RCV000418749 RCV000421204 RCV000440111 RCV000425998 RCV000431464 RCV000432551 RCV000429902 RCV000437380 RCV000441207 RCV000434647 RCV000441502 RCV000809571 RCV003332145 RCV002288851
NM_000551.4(VHL):c.3G>T (p.Met1Ile)	SNV Germline	Chr3:10141850	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome not specified Pheochromocytoma Nonpapillary renal cell carcinoma Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA040825	rs_578091032	8 SubmittersRCV000228663 RCV000236708 RCV000411808 RCV000562501 RCV002307459 RCV002487052
NM_000551.4(VHL):c.172C>T (p.Arg58Trp)	SNV Germline	Chr3:10142019	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Pheochromocytoma Nonpapillary renal cell carcinoma Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA039640	rs_757781272	7 SubmittersRCV000230639 RCV000663291 RCV001012878 RCV002500764 RCV003151759
NM_144997.7(FLCN):c.614T>C (p.Leu205Pro)	SNV Germline	Chr17:17223926	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Colorectal cancer Potocki-Lupski syndrome Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA10583456	rs_878855219	3 SubmittersRCV000232477 RCV001024947 RCV002487093
NM_144997.7(FLCN):c.82C>T (p.Pro28Ser)	SNV Germline	Chr17:17228056	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Hereditary cancer-predisposing syndrome Condition: not provided Birt-Hogg-Dube syndrome Colorectal cancer Potocki-Lupski syndrome Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA8416522	rs_749758787	6 SubmittersRCV000229497 RCV000380278 RCV001027381 RCV003151763 RCV002500821
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_000245.4(MET):c.3221G>A (p.Ser1074Asn)	SNV Germline	Chr7:116775073	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications	CA4448665	rs_752641437	4 SubmittersRCV000236470 RCV000560927 RCV002291612 RCV004567793
NM_000245.4(MET):c.1336A>G (p.Ile446Val)	SNV Germline	Chr7:116731803	Conflicting classifications of pathogenicity	Renal cell carcinoma Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia Hepatocellular carcinoma Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA4448135	rs_779022887	4 SubmittersRCV000239364 RCV002487111 RCV000574879 RCV003114412
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter)	SNV Germline	Chr17:17215188	Pathogenic	Birt-Hogg-Dube syndrome Condition: not provided not specified Carcinoma of colon Birt-Hogg-Dube syndrome Potocki-Lupski syndrome Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10586252	rs_879255678	10 SubmittersRCV000239684 RCV000256142 RCV000507127 RCV000762980 RCV000567617
NM_144997.7(FLCN):c.716G>A (p.Arg239His)	SNV Germline	Chr17:17222564	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Colorectal cancer Potocki-Lupski syndrome Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Condition: not provided	Criteria Provided Conflicting Classifications	CA8416333	rs_753948488	5 SubmittersRCV000239701 RCV000561577 RCV002487112 RCV001527887
NM_144997.7(FLCN):c.1062+2T>G	SNV Germline	Chr17:17219017	Pathogenic	Condition: not provided Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Colorectal cancer Birt-Hogg-Dube syndrome Potocki-Lupski syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10588640	rs_886039370	6 SubmittersRCV000254745 RCV000812531 RCV001009818 RCV002479990
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_000458.4(HNF1B):c.884G>A (p.Arg295His)	SNV Germline	Chr17:37731756	Conflicting classifications of pathogenicity	Condition: not provided Renal cysts and diabetes syndrome Type 2 diabetes mellitus Nonpapillary renal cell carcinoma Renal cysts and diabetes syndrome	Criteria Provided Conflicting Classifications	CA10605981		7 SubmittersRCV000713806 RCV000787122 RCV001535983
NM_000458.4(HNF1B):c.1207A>T (p.Ile403Phe)	SNV Germline	Chr17:37705049	Conflicting classifications of pathogenicity	Condition: not provided Renal cysts and diabetes syndrome Maturity onset diabetes mellitus in young Nonpapillary renal cell carcinoma Type 2 diabetes mellitus Renal cysts and diabetes syndrome	Criteria Provided Conflicting Classifications	CA8518862	rs_747110790	4 SubmittersRCV000374880 RCV000399259 RCV002464160 RCV002494897
NM_000245.4(MET):c.1320A>G (p.Thr440=)	SNV Germline	Chr7:116731787	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma	Criteria Provided Conflicting Classifications	CA4448132	rs_763726060	3 SubmittersRCV000393162 RCV002379246 RCV001519329
NM_000245.4(MET):c.1965+11T>G	SNV Germline	Chr7:116757550	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Renal cell carcinoma	Criteria Provided Conflicting Classifications	CA10623054	rs_780230492	2 SubmittersRCV000366689 RCV003761942
NM_000245.4(MET):c.4074C>T (p.Asn1358=)	SNV Germline	Chr7:116796025	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Condition: not provided Renal cell carcinoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA4448823	rs_772860611	4 SubmittersRCV000288231 RCV000840849 RCV001420985 RCV002328874
NM_000245.4(MET):c.1011G>A (p.Leu337=)	SNV Germline	Chr7:116700095	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Renal cell carcinoma	Criteria Provided Conflicting Classifications	CA10628122	rs_886061942	2 SubmittersRCV000327973 RCV001485226
NM_144997.7(FLCN):c.1430G>A (p.Arg477Gln)	SNV Germline	Chr17:17215187	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Condition: not provided Spontaneous pneumothorax Birt-Hogg-Dube syndrome Nonpapillary renal cell carcinoma Potocki-Lupski syndrome Familial spontaneous pneumothorax Carcinoma of colon Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA8416005	rs_748878853	8 SubmittersRCV000266163 RCV000414396 RCV000379332 RCV000765332 RCV001011546
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_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_000551.4(VHL):c.28G>A (p.Glu10Lys)	SNV Germline	Chr3:10141875	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Condition: not provided Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Pheochromocytoma Chuvash polycythemia Chuvash polycythemia	Criteria Provided Conflicting Classifications	CA16043991	rs_1057519261	8 SubmittersRCV000415643 RCV000476548 RCV001016912 RCV001584111 RCV002488864 RCV003463824
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_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_004448.4(ERBB2):c.2264T>C (p.Leu755Ser)	SNV Somatic	Chr17:39723967	Likely pathogenic	Papillary renal cell carcinoma, sporadic Malignant neoplasm of body of uterus Neoplasm of the large intestine Malignant melanoma of skin Transitional cell carcinoma of the bladder Gastric adenocarcinoma Breast neoplasm	No Assertion Criteria Provided	CA16602502	rs_121913470	1 SubmittersRCV000418445 RCV000417433 RCV000427447 RCV000428572 RCV000429126 RCV000435324 RCV000435086
NM_000551.4(VHL):c.266T>A (p.Leu89His)	SNV Somatic	Chr3:10142113	Likely pathogenic	Papillary renal cell carcinoma type 1	No Assertion Criteria Provided	CA16602514	rs_5030807	1 SubmittersRCV000417911
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_001654.5(ARAF):c.641C>G (p.Ser214Cys)	SNV Somatic	ChrX:47566722	Likely pathogenic	Non-small cell lung carcinoma Malignant melanoma of skin Papillary renal cell carcinoma, sporadic Lung adenocarcinoma	No Assertion Criteria Provided	CA16602595	rs_1057519786	1 SubmittersRCV000419218 RCV000427514 RCV000430187 RCV000436910
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_004448.4(ERBB2):c.2264T>G (p.Leu755Trp)	SNV Somatic	Chr17:39723967	Likely pathogenic	Neoplasm of the large intestine Breast neoplasm Gastric adenocarcinoma Transitional cell carcinoma of the bladder Malignant melanoma of skin Malignant neoplasm of body of uterus Papillary renal cell carcinoma, sporadic	No Assertion Criteria Provided	CA16602786	rs_121913470	1 SubmittersRCV000417866 RCV000425422 RCV000426066 RCV000432853 RCV000435694 RCV000442700 RCV000445218
NM_001654.5(ARAF):c.641C>T (p.Ser214Phe)	SNV Somatic	ChrX:47566722	Likely pathogenic	Papillary renal cell carcinoma, sporadic Lung adenocarcinoma Malignant melanoma of skin	No Assertion Criteria Provided	CA16602805	rs_1057519786	1 SubmittersRCV000417875 RCV000429142 RCV000435898
NM_001654.5(ARAF):c.640T>G (p.Ser214Ala)	SNV Somatic	ChrX:47566721	Likely pathogenic	Papillary renal cell carcinoma, sporadic Lung adenocarcinoma Malignant melanoma of skin	No Assertion Criteria Provided	CA16602806	rs_1057519876	1 SubmittersRCV000421117 RCV000428557 RCV000438348
NM_004333.6(BRAF):c.1742A>C (p.Asn581Thr)	SNV Somatic	Chr7:140753393	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma, sporadic Lung adenocarcinoma Malignant melanoma of skin Neoplasm of the large intestine Multiple myeloma Ovarian serous cystadenocarcinoma Condition: not provided	No Assertion Criteria Provided	CA16602815	rs_121913370	2 SubmittersRCV000419907 RCV000422334 RCV000429764 RCV000430791 RCV000440423 RCV000440655 RCV001355069
NM_004448.4(ERBB2):c.2263T>A (p.Leu755Met)	SNV Somatic	Chr17:39723966	Likely pathogenic	Papillary renal cell carcinoma, sporadic Neoplasm of the large intestine Breast neoplasm Malignant melanoma of skin Malignant neoplasm of body of uterus Gastric adenocarcinoma Transitional cell carcinoma of the bladder	No Assertion Criteria Provided	CA16602842	rs_1057519890	1 SubmittersRCV000421368 RCV000422582 RCV000431643 RCV000432868 RCV000438379 RCV000439036 RCV000443340
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.7500T>G (p.Ile2500Met)	SNV Germline/somatic	Chr1:11109318	Likely pathogenic	Malignant neoplasm of body of uterus Breast neoplasm Gastric adenocarcinoma Papillary renal cell carcinoma type 1 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	Criteria Provided Single Submitter	CA16602890	rs_1057519915	2 SubmittersRCV000435587 RCV000424860 RCV000444491 RCV000444639 RCV000995810
NM_004958.4(MTOR):c.7498A>T (p.Ile2500Phe)	SNV Somatic	Chr1:11109320	Likely pathogenic	Malignant neoplasm of body of uterus Papillary renal cell carcinoma type 1 Gastric adenocarcinoma Breast neoplasm	No Assertion Criteria Provided	CA16602891	rs_1057519916	1 SubmittersRCV000420686 RCV000427238 RCV000429674 RCV000437898
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.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_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_005614.4(RHEB):c.103T>A (p.Tyr35Asn)	SNV Somatic	Chr7:151490964	Likely pathogenic	Malignant neoplasm of body of uterus Papillary renal cell carcinoma type 1 Papillary renal cell carcinoma, sporadic Transitional cell carcinoma of the bladder	No Assertion Criteria Provided	CA16602944	rs_1057519949	1 SubmittersRCV000423686 RCV000430945 RCV000434350 RCV000441833
NM_005614.4(RHEB):c.104A>G (p.Tyr35Cys)	SNV Germline/somatic	Chr7:151490963	Pathogenic	Papillary renal cell carcinoma type 1 Malignant neoplasm of body of uterus Papillary renal cell carcinoma, sporadic Transitional cell carcinoma of the bladder Condition: not provided	Criteria Provided Single Submitter	CA16602945	rs_1057519950	2 SubmittersRCV000423491 RCV000433318 RCV000444179 RCV000445239 RCV001539212
NM_012433.4(SF3B1):c.2225G>A (p.Gly742Asp)	SNV Somatic	Chr2:197401887	Likely pathogenic	B-cell chronic lymphocytic leukemia Papillary renal cell carcinoma type 1	No Assertion Criteria Provided	CA2042577	rs_755415626	1 SubmittersRCV000417601 RCV000438761
NM_006842.3(SF3B2):c.2099A>G (p.Glu700Gly)	SNV Somatic	Chr11:66063413	Likely pathogenic	B-cell chronic lymphocytic leukemia Myelodysplastic syndrome Pancreatic adenocarcinoma Breast neoplasm Acute myeloid leukemia Papillary renal cell carcinoma type 1 Medulloblastoma	No Assertion Criteria Provided	CA16602960	rs_1057519960	1 SubmittersRCV000423295 RCV000424642 RCV000425258 RCV000433609 RCV000436411 RCV000444245 RCV000444087
NM_005648.4(ELOC):c.236A>C (p.Tyr79Ser)	SNV Somatic	Chr8:73946733	Likely pathogenic	Papillary renal cell carcinoma type 1	No Assertion Criteria Provided	CA16602982	rs_1057519973	1 SubmittersRCV000443719
NM_005648.4(ELOC):c.235T>A (p.Tyr79Asn)	SNV Somatic	Chr8:73946734	Likely pathogenic	Papillary renal cell carcinoma type 1	No Assertion Criteria Provided	CA16602983	rs_1057519974	1 SubmittersRCV000427598
NM_005648.4(ELOC):c.236A>T (p.Tyr79Phe)	SNV Somatic	Chr8:73946733	Likely pathogenic	Papillary renal cell carcinoma type 1	No Assertion Criteria Provided	CA16602984	rs_1057519973	1 SubmittersRCV000438288
NM_000546.6(TP53):c.423C>G (p.Cys141Trp)	SNV Germline/somatic	Chr17:7675189	Pathogenic/Likely pathogenic	Acute myeloid leukemia Multiple myeloma Squamous cell lung carcinoma Neoplasm of the large intestine Breast neoplasm Malignant neoplasm of body of uterus Pancreatic adenocarcinoma Prostate adenocarcinoma Papillary renal cell carcinoma type 1 Neoplasm of brain Lung adenocarcinoma Hereditary cancer-predisposing syndrome Squamous cell carcinoma of the head and neck Li-Fraumeni syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16602990	rs_1057519977	3 SubmittersRCV000425931 RCV000423924 RCV000424802 RCV000422816 RCV000430241 RCV000434169 RCV000431589 RCV000434797 RCV000445034 RCV000440499 RCV000442353 RCV000492201 RCV000444942 RCV000467641
NM_000546.6(TP53):c.421T>C (p.Cys141Arg)	SNV Germline/somatic	Chr17:7675191	Conflicting classifications of pathogenicity	Neoplasm of brain Acute myeloid leukemia Lung adenocarcinoma Multiple myeloma Neoplasm of the large intestine Papillary renal cell carcinoma type 1 Squamous cell lung carcinoma Breast neoplasm Malignant neoplasm of body of uterus Prostate adenocarcinoma Squamous cell carcinoma of the head and neck Pancreatic adenocarcinoma Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16602991	rs_1057519978	3 SubmittersRCV000419723 RCV000420817 RCV000418678 RCV000423623 RCV000425407 RCV000432161 RCV000430017 RCV000437414 RCV000431037 RCV000436190 RCV000440220 RCV000441312 RCV001861481 RCV002328907
NM_000546.6(TP53):c.421T>G (p.Cys141Gly)	SNV Somatic	Chr17:7675191	Likely pathogenic	Acute myeloid leukemia Neoplasm of the large intestine Lung adenocarcinoma Multiple myeloma Pancreatic adenocarcinoma Squamous cell carcinoma of the head and neck Malignant neoplasm of body of uterus Breast neoplasm Papillary renal cell carcinoma type 1 Prostate adenocarcinoma Squamous cell lung carcinoma Neoplasm of brain	No Assertion Criteria Provided	CA16602992	rs_1057519978	1 SubmittersRCV000419137 RCV000420961 RCV000425541 RCV000426677 RCV000427661 RCV000432339 RCV000432969 RCV000436820 RCV000437911 RCV000438636 RCV000444521 RCV000444835
NM_000546.6(TP53):c.421T>A (p.Cys141Ser)	SNV Somatic	Chr17:7675191	Likely pathogenic	Breast neoplasm Papillary renal cell carcinoma type 1 Malignant neoplasm of body of uterus Neoplasm of brain Squamous cell carcinoma of the head and neck Acute myeloid leukemia Lung adenocarcinoma Pancreatic adenocarcinoma Neoplasm of the large intestine Prostate adenocarcinoma Squamous cell lung carcinoma Multiple myeloma	No Assertion Criteria Provided	CA16602993	rs_1057519978	1 SubmittersRCV000417913 RCV000420314 RCV000422574 RCV000421892 RCV000428237 RCV000430556 RCV000432852 RCV000433900 RCV000438490 RCV000439057 RCV000439533 RCV000442038
NM_000546.6(TP53):c.422G>T (p.Cys141Phe)	SNV Germline/somatic	Chr17:7675190	Conflicting classifications of pathogenicity	Acute myeloid leukemia Papillary renal cell carcinoma type 1 Malignant neoplasm of body of uterus Lung adenocarcinoma Prostate adenocarcinoma Squamous cell lung carcinoma Breast neoplasm Multiple myeloma Squamous cell carcinoma of the head and neck Neoplasm of brain Neoplasm of the large intestine Pancreatic adenocarcinoma Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16602994	rs_587781288	3 SubmittersRCV000417404 RCV000418478 RCV000423030 RCV000425219 RCV000427605 RCV000429427 RCV000433302 RCV000436176 RCV000435499 RCV000437866 RCV000444376 RCV000445236 RCV001214540
NM_000546.6(TP53):c.527G>T (p.Cys176Phe)	SNV Germline/somatic	Chr17:7675085	Pathogenic/Likely pathogenic	Neoplasm of the large intestine Gastric adenocarcinoma Prostate adenocarcinoma Transitional cell carcinoma of the bladder Lung adenocarcinoma Papillary renal cell carcinoma type 1 Breast neoplasm Pancreatic adenocarcinoma Hepatocellular carcinoma Squamous cell lung carcinoma Squamous cell carcinoma of the head and neck Neoplasm of brain Carcinoma of esophagus Acute myeloid leukemia Ovarian serous cystadenocarcinoma Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16602995	rs_786202962	4 SubmittersRCV000423829 RCV000424063 RCV000423447 RCV000425950 RCV000424490 RCV000429162 RCV000429805 RCV000431923 RCV000435143 RCV000434780 RCV000440706 RCV000440448 RCV000442295 RCV000445093 RCV000445073 RCV001244047 RCV002348142 RCV004022202
NM_000546.6(TP53):c.526T>A (p.Cys176Ser)	SNV Germline/somatic	Chr17:7675086	Conflicting classifications of pathogenicity	Acute myeloid leukemia Lung adenocarcinoma Gastric adenocarcinoma Neoplasm of brain Papillary renal cell carcinoma type 1 Breast neoplasm Carcinoma of esophagus Squamous cell lung carcinoma Squamous cell carcinoma of the head and neck Prostate adenocarcinoma Hepatocellular carcinoma Pancreatic adenocarcinoma Transitional cell carcinoma of the bladder Ovarian serous cystadenocarcinoma Neoplasm of the large intestine Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16602996	rs_967461896	5 SubmittersRCV000417611 RCV000420420 RCV000420646 RCV000425621 RCV000428308 RCV000426275 RCV000427846 RCV000428520 RCV000433667 RCV000436945 RCV000439156 RCV000437617 RCV000439650 RCV000442242 RCV000444511 RCV000492644 RCV001060393 RCV001352918 RCV004022203
NM_000546.6(TP53):c.526T>G (p.Cys176Gly)	SNV Germline/somatic	Chr17:7675086	Conflicting classifications of pathogenicity	Transitional cell carcinoma of the bladder Prostate adenocarcinoma Neoplasm of the large intestine Ovarian serous cystadenocarcinoma Hepatocellular carcinoma Neoplasm of brain Pancreatic adenocarcinoma Squamous cell carcinoma of the head and neck Papillary renal cell carcinoma type 1 Gastric adenocarcinoma Acute myeloid leukemia Breast neoplasm Lung adenocarcinoma Squamous cell lung carcinoma Carcinoma of esophagus Neoplasm of ovary Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16602997	rs_967461896	5 SubmittersRCV000417784 RCV000417996 RCV000423257 RCV000422633 RCV000425147 RCV000426543 RCV000427160 RCV000432450 RCV000434994 RCV000434565 RCV000433975 RCV000442522 RCV000437830 RCV000439618 RCV000445223 RCV000785535 RCV001023834 RCV003621529 RCV004022204
NM_000546.6(TP53):c.528C>G (p.Cys176Trp)	SNV Germline/somatic	Chr17:7675084	Conflicting classifications of pathogenicity	Squamous cell carcinoma of the head and neck Gastric adenocarcinoma Papillary renal cell carcinoma type 1 Prostate adenocarcinoma Carcinoma of esophagus Neoplasm of brain Transitional cell carcinoma of the bladder Neoplasm of the large intestine Lung adenocarcinoma Breast neoplasm Hepatocellular carcinoma Ovarian serous cystadenocarcinoma Acute myeloid leukemia Pancreatic adenocarcinoma Squamous cell lung carcinoma Hereditary cancer-predisposing syndrome Neoplasm of ovary Li-Fraumeni syndrome TP53-related disorder Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16602998	rs_1057519980	7 SubmittersRCV000418563 RCV000422732 RCV000424653 RCV000421434 RCV000424249 RCV000429475 RCV000429952 RCV000430137 RCV000434070 RCV000440822 RCV000432087 RCV000439276 RCV000445065 RCV000441518 RCV000442369 RCV000567103 RCV000785243 RCV000530055 RCV003401413 RCV004022205
NM_000546.6(TP53):c.526T>C (p.Cys176Arg)	SNV Germline/somatic	Chr17:7675086	Conflicting classifications of pathogenicity	Neoplasm of brain Papillary renal cell carcinoma type 1 Breast neoplasm Gastric adenocarcinoma Ovarian serous cystadenocarcinoma Lung adenocarcinoma Pancreatic adenocarcinoma Neoplasm of the large intestine Prostate adenocarcinoma Squamous cell lung carcinoma Transitional cell carcinoma of the bladder Carcinoma of esophagus Hepatocellular carcinoma Squamous cell carcinoma of the head and neck Acute myeloid leukemia Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Neoplasm of ovary Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16602999	rs_967461896	6 SubmittersRCV000419497 RCV000419681 RCV000421755 RCV000423671 RCV000425379 RCV000430429 RCV000431070 RCV000436082 RCV000431573 RCV000436752 RCV000430876 RCV000438958 RCV000436236 RCV000444713 RCV000441815 RCV001023833 RCV001044520 RCV000785469 RCV004022206
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.578A>C (p.His193Pro)	SNV Germline/somatic	Chr17:7674953	Pathogenic	Neoplasm of the large intestine Prostate adenocarcinoma Carcinoma of esophagus Small cell lung carcinoma Squamous cell lung carcinoma Papillary renal cell carcinoma, sporadic Gastric adenocarcinoma Acute myeloid leukemia Pancreatic adenocarcinoma Brainstem glioma Transitional cell carcinoma of the bladder Lung adenocarcinoma Squamous cell carcinoma of the head and neck B-cell chronic lymphocytic leukemia Neoplasm of brain Breast neoplasm Uterine carcinosarcoma Malignant neoplasm of body of uterus Hepatocellular carcinoma Ovarian serous cystadenocarcinoma Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Reviewed By Expert Panel	CA16603033	rs_786201838	5 SubmittersRCV000417520 RCV000418213 RCV000422374 RCV000422912 RCV000423516 RCV000424851 RCV000429577 RCV000427668 RCV000428197 RCV000428877 RCV000434205 RCV000433585 RCV000434933 RCV000435420 RCV000435566 RCV000440128 RCV000439568 RCV000442541 RCV000444985 RCV000445292 RCV000991151 RCV001525967
NM_000546.6(TP53):c.577C>G (p.His193Asp)	SNV Germline/somatic	Chr17:7674954	Conflicting classifications of pathogenicity	Uterine carcinosarcoma Gastric adenocarcinoma Neoplasm of the large intestine Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Transitional cell carcinoma of the bladder Lung adenocarcinoma Brainstem glioma Carcinoma of esophagus Pancreatic adenocarcinoma Small cell lung carcinoma B-cell chronic lymphocytic leukemia Neoplasm of brain Breast neoplasm Acute myeloid leukemia Ovarian serous cystadenocarcinoma Malignant neoplasm of body of uterus Papillary renal cell carcinoma, sporadic Squamous cell lung carcinoma Prostate adenocarcinoma Li-Fraumeni syndrome Li-Fraumeni syndrome 1	Criteria Provided Conflicting Classifications	CA16603034	rs_876658468	3 SubmittersRCV000418378 RCV000419005 RCV000419924 RCV000421156 RCV000423999 RCV000425273 RCV000425552 RCV000425919 RCV000430614 RCV000431849 RCV000429967 RCV000432462 RCV000436250 RCV000434704 RCV000436620 RCV000438391 RCV000440641 RCV000441340 RCV000442175 RCV000444718 RCV003509527 RCV004022219
NM_000546.6(TP53):c.577C>A (p.His193Asn)	SNV Somatic	Chr17:7674954	Likely pathogenic	Lung adenocarcinoma Pancreatic adenocarcinoma Uterine carcinosarcoma Squamous cell carcinoma of the head and neck Transitional cell carcinoma of the bladder Papillary renal cell carcinoma, sporadic Small cell lung carcinoma Carcinoma of esophagus Brainstem glioma Breast neoplasm Ovarian serous cystadenocarcinoma B-cell chronic lymphocytic leukemia Hepatocellular carcinoma Acute myeloid leukemia Neoplasm of the large intestine Prostate adenocarcinoma Malignant neoplasm of body of uterus Gastric adenocarcinoma Neoplasm of brain Squamous cell lung carcinoma	No Assertion Criteria Provided	CA16603035	rs_876658468	1 SubmittersRCV000420192 RCV000420894 RCV000419544 RCV000421458 RCV000422179 RCV000422815 RCV000426753 RCV000427057 RCV000428079 RCV000432133 RCV000430888 RCV000432878 RCV000433595 RCV000437420 RCV000439335 RCV000437710 RCV000438671 RCV000441851 RCV000441629 RCV000444677
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.716A>G (p.Asn239Ser)	SNV Germline/somatic	Chr17:7674247	Likely pathogenic	Lung adenocarcinoma Squamous cell carcinoma of the head and neck Ovarian serous cystadenocarcinoma Uterine carcinosarcoma Prostate adenocarcinoma Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome Condition: not provided Neoplasm of the large intestine Papillary renal cell carcinoma type 1 Malignant neoplasm of body of uterus Breast neoplasm Gastric adenocarcinoma Hepatocellular carcinoma Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603054	rs_1057519999	6 SubmittersRCV000427640 RCV000429581 RCV000436108 RCV000437044 RCV000442626 RCV000567507 RCV001851021 RCV002510885 RCV000418854 RCV000420011 RCV000426368 RCV000428926 RCV000438332 RCV000438482 RCV002289529
NM_000546.6(TP53):c.716A>C (p.Asn239Thr)	SNV Germline/somatic	Chr17:7674247	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Neoplasm of the large intestine Lung adenocarcinoma Squamous cell carcinoma of the head and neck Uterine carcinosarcoma Prostate adenocarcinoma Ovarian serous cystadenocarcinoma Gastric adenocarcinoma Breast neoplasm Malignant neoplasm of body of uterus Hepatocellular carcinoma Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16603055	rs_1057519999	3 SubmittersRCV000420547 RCV000417510 RCV000418162 RCV000424579 RCV000425771 RCV000430564 RCV000436479 RCV000435297 RCV000431205 RCV000441278 RCV000442232 RCV000633336 RCV002374626
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.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.815T>A (p.Val272Glu)	SNV Germline/somatic	Chr17:7673805	Conflicting classifications of pathogenicity	Squamous cell carcinoma of the head and neck Lung adenocarcinoma Neoplasm of the large intestine Malignant neoplasm of body of uterus Squamous cell carcinoma of the skin Medulloblastoma Gastric adenocarcinoma Li-Fraumeni syndrome Pancreatic adenocarcinoma Li-Fraumeni syndrome 1 Ovarian serous cystadenocarcinoma Transitional cell carcinoma of the bladder Multiple myeloma Papillary renal cell carcinoma type 1 Breast neoplasm	Criteria Provided Conflicting Classifications	CA16603087	rs_876660333	3 SubmittersRCV000424786 RCV000429369 RCV000434183 RCV000438331 RCV000440060 RCV000442953 RCV000444340 RCV001228585 RCV000421804 RCV004022247 RCV000422825 RCV000423493 RCV000427639 RCV000433521 RCV000442761
NM_000546.6(TP53):c.614A>G (p.Tyr205Cys)	SNV Germline/somatic	Chr17:7674917	Pathogenic	Hepatocellular carcinoma Papillary renal cell carcinoma type 1 Ovarian serous cystadenocarcinoma Squamous cell carcinoma of the head and neck Non-Hodgkin lymphoma Uterine carcinosarcoma Glioblastoma Malignant neoplasm of body of uterus Breast neoplasm Squamous cell lung carcinoma Pancreatic adenocarcinoma Neoplasm of the large intestine Multiple myeloma Lung adenocarcinoma Carcinoma of esophagus Neoplasm of brain Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603095	rs_1057520007	4 SubmittersRCV000422077 RCV000422980 RCV000427034 RCV000424901 RCV000427749 RCV000430410 RCV000431652 RCV000433236 RCV000432320 RCV000437968 RCV000437254 RCV000439980 RCV000440667 RCV000442863 RCV000443687 RCV000443828 RCV000704312 RCV002356520 RCV004022251
NM_000546.6(TP53):c.614A>T (p.Tyr205Phe)	SNV Somatic	Chr17:7674917	Likely pathogenic	Non-Hodgkin lymphoma Papillary renal cell carcinoma type 1 Malignant neoplasm of body of uterus Lung adenocarcinoma Breast neoplasm Neoplasm of brain Pancreatic adenocarcinoma Ovarian serous cystadenocarcinoma Squamous cell lung carcinoma Glioblastoma Squamous cell carcinoma of the head and neck Multiple myeloma Hepatocellular carcinoma Carcinoma of esophagus Neoplasm of the large intestine Uterine carcinosarcoma	No Assertion Criteria Provided	CA16603096	rs_1057520007	1 SubmittersRCV000418952 RCV000419588 RCV000421235 RCV000421916 RCV000424047 RCV000428672 RCV000426974 RCV000429233 RCV000429897 RCV000431494 RCV000434394 RCV000436627 RCV000439588 RCV000438926 RCV000443993 RCV000443853
NM_000546.6(TP53):c.614A>C (p.Tyr205Ser)	SNV Somatic	Chr17:7674917	Likely pathogenic	Glioblastoma Squamous cell carcinoma of the head and neck Papillary renal cell carcinoma type 1 Malignant neoplasm of body of uterus Breast neoplasm Carcinoma of esophagus Lung adenocarcinoma Ovarian serous cystadenocarcinoma Non-Hodgkin lymphoma Neoplasm of brain Multiple myeloma Hepatocellular carcinoma Pancreatic adenocarcinoma Uterine carcinosarcoma Squamous cell lung carcinoma Neoplasm of the large intestine	No Assertion Criteria Provided	CA16603097	rs_1057520007	1 SubmittersRCV000418906 RCV000417872 RCV000423862 RCV000424176 RCV000428105 RCV000426347 RCV000428760 RCV000430958 RCV000433698 RCV000436591 RCV000435531 RCV000437249 RCV000438368 RCV000441249 RCV000440868 RCV000443239
NM_000546.6(TP53):c.613T>A (p.Tyr205Asn)	SNV Germline/somatic	Chr17:7674918	Conflicting classifications of pathogenicity	Carcinoma of esophagus Papillary renal cell carcinoma type 1 Breast neoplasm Squamous cell carcinoma of the head and neck Hepatocellular carcinoma Neoplasm of brain Ovarian serous cystadenocarcinoma Neoplasm of the large intestine Multiple myeloma Malignant neoplasm of body of uterus Glioblastoma Non-Hodgkin lymphoma Pancreatic adenocarcinoma Uterine carcinosarcoma Lung adenocarcinoma Squamous cell lung carcinoma Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome	Criteria Provided Conflicting Classifications	CA16603098	rs_1057520008	6 SubmittersRCV000417461 RCV000419577 RCV000420753 RCV000422784 RCV000426051 RCV000424682 RCV000424892 RCV000430294 RCV000430575 RCV000432365 RCV000433474 RCV000435608 RCV000437987 RCV000441202 RCV000444368 RCV000444287 RCV000662621 RCV001024933 RCV001851022
NM_000546.6(TP53):c.613T>C (p.Tyr205His)	SNV Germline/somatic	Chr17:7674918	Pathogenic/Likely pathogenic	Pancreatic adenocarcinoma Multiple myeloma Neoplasm of brain Carcinoma of esophagus Glioblastoma Non-Hodgkin lymphoma Lung adenocarcinoma Uterine carcinosarcoma Hepatocellular carcinoma Papillary renal cell carcinoma type 1 Malignant neoplasm of body of uterus Ovarian serous cystadenocarcinoma Squamous cell carcinoma of the head and neck Neoplasm of the large intestine Squamous cell lung carcinoma Breast neoplasm Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA16603099	rs_1057520008	5 SubmittersRCV000419308 RCV000420368 RCV000421826 RCV000422887 RCV000424493 RCV000427755 RCV000426781 RCV000431739 RCV000431958 RCV000432726 RCV000437451 RCV000437587 RCV000439923 RCV000440094 RCV000443622 RCV000443753 RCV000819983 RCV000775886 RCV004022252
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp)	SNV Germline/somatic	Chr17:7674918	Conflicting classifications of pathogenicity	Lung adenocarcinoma Pancreatic adenocarcinoma Non-Hodgkin lymphoma Multiple myeloma Papillary renal cell carcinoma type 1 Breast neoplasm Squamous cell carcinoma of the head and neck Ovarian serous cystadenocarcinoma Uterine carcinosarcoma Hepatocellular carcinoma Malignant neoplasm of body of uterus Neoplasm of brain Squamous cell lung carcinoma Neoplasm of the large intestine Carcinoma of esophagus Glioblastoma Li-Fraumeni syndrome Li-Fraumeni syndrome 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA16603100	rs_1057520008	5 SubmittersRCV000421137 RCV000419128 RCV000423676 RCV000421350 RCV000426948 RCV000428535 RCV000428939 RCV000430021 RCV000434351 RCV000434446 RCV000438356 RCV000436740 RCV000439865 RCV000439629 RCV000444122 RCV000444873 RCV000462351 RCV000663307 RCV003441853
NM_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_000551.4(VHL):c.323G>A (p.Arg108His)	SNV Germline	Chr3:10142170	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Condition: not provided Hereditary cancer-predisposing syndrome Chuvash polycythemia Von Hippel-Lindau syndrome Pheochromocytoma Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA040275	rs_367594943	5 SubmittersRCV000458083 RCV002269278 RCV001019385 RCV002489087 RCV004001987
NM_000551.4(VHL):c.373C>T (p.His125Tyr)	SNV Germline	Chr3:10146546	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Pheochromocytoma Von Hippel-Lindau syndrome Chuvash polycythemia Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA040676	rs_375401722	8 SubmittersRCV000462284 RCV000479517 RCV000708764 RCV002272247 RCV002489086
NM_000245.4(MET):c.2755G>A (p.Val919Ile)	SNV Germline	Chr7:116771522	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Condition: not provided Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97 not specified	Criteria Provided Conflicting Classifications	CA4448584	rs_759522148	6 SubmittersRCV000459574 RCV000574997 RCV001584167 RCV003153641 RCV003470496 RCV003493586
NM_000245.4(MET):c.2971C>T (p.Pro991Ser)	SNV Germline	Chr7:116771932	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma Osteofibrous dysplasia Condition: not provided	Criteria Provided Conflicting Classifications	CA4448619	rs_768678989	5 SubmittersRCV000476062 RCV001018130 RCV001312218 RCV001788226 RCV001755706
NM_000245.4(MET):c.143C>G (p.Ala48Gly)	SNV Germline	Chr7:116699227	Conflicting classifications of pathogenicity	Renal cell carcinoma Osteofibrous dysplasia Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97 Hepatocellular carcinoma Hereditary cancer-predisposing syndrome Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications	CA4447947	rs_80256822	4 SubmittersRCV000458343 RCV000765914 RCV002393162 RCV003463962
NM_144997.7(FLCN):c.748C>A (p.Leu250Met)	SNV Germline	Chr17:17222532	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome Potocki-Lupski syndrome Colorectal cancer Condition: not provided	Criteria Provided Conflicting Classifications	CA16615122	rs_898441209	5 SubmittersRCV000462755 RCV000492271 RCV002481438 RCV002480409
NM_144997.7(FLCN):c.249+2C>T	SNV Germline	Chr17:17227887	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Condition: not provided Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome Potocki-Lupski syndrome Colorectal cancer Birt-Hogg-Dube syndrome 1 Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16615123	rs_939223011	5 SubmittersRCV000456150 RCV003477973 RCV002489055 RCV004022725 RCV003298490
NM_144997.7(FLCN):c.113G>T (p.Ser38Ile)	SNV Germline	Chr17:17228025	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome not specified Condition: not provided Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome Potocki-Lupski syndrome Colorectal cancer FLCN-related disorder	Criteria Provided Conflicting Classifications	CA8416514	rs_139418842	7 SubmittersRCV000469363 RCV001017432 RCV001844165 RCV001558005 RCV002489056 RCV003409629
NM_144997.7(FLCN):c.535C>T (p.Arg179Trp)	SNV Germline	Chr17:17224005	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Potocki-Lupski syndrome Condition: not provided Birt-Hogg-Dube syndrome Potocki-Lupski syndrome Colorectal cancer Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma not specified	Criteria Provided Conflicting Classifications	CA8416388	rs_774358971	7 SubmittersRCV000467918 RCV001023971 RCV001198849 RCV001568283 RCV002480410 RCV003321612
NM_000551.4(VHL):c.614G>A (p.Arg205His)	SNV Germline	Chr3:10149937	Conflicting classifications of pathogenicity	Condition: not provided Chuvash polycythemia Von Hippel-Lindau syndrome Pheochromocytoma Chuvash polycythemia Nonpapillary renal cell carcinoma Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA041951	rs_777130107	5 SubmittersRCV000481472 RCV000631259 RCV000764460 RCV001024946
NM_144997.7(FLCN):c.1657T>C (p.Trp553Arg)	SNV Germline	Chr17:17213738	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Condition: not provided Familial spontaneous pneumothorax Potocki-Lupski syndrome Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome Colorectal cancer	Criteria Provided Multiple Submitters No Conflicts	CA398529920	rs_1131690833	4 SubmittersRCV000492176 RCV000690635 RCV001584204 RCV002496889
NM_000551.4(VHL):c.31G>C (p.Ala11Pro)	SNV Germline	Chr3:10141878	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Pheochromocytoma Nonpapillary renal cell carcinoma Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications	CA351747101	rs_1236604706	3 SubmittersRCV000554589 RCV001019152 RCV000764457
NM_000245.4(MET):c.142G>A (p.Ala48Thr)	SNV Germline	Chr7:116699226	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Condition: not provided Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia Papillary renal cell carcinoma type 1 Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications	CA4447946	rs_374050750	5 SubmittersRCV000532694 RCV000569043 RCV001547448 RCV000764682 RCV003470697
NM_000245.4(MET):c.341A>T (p.Asp114Val)	SNV Germline	Chr7:116699425	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Renal cell carcinoma Hereditary cancer-predisposing syndrome MET-related disorder Autosomal recessive nonsyndromic hearing loss 97 Condition: not provided	Criteria Provided Conflicting Classifications	CA4447978	rs_773659883	6 SubmittersRCV000540846 RCV001293431 RCV002456035 RCV003409759 RCV003459165 RCV003151783
NM_000245.4(MET):c.1988C>T (p.Ser663Leu)	SNV Germline	Chr7:116757660	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Condition: not provided Hereditary cancer-predisposing syndrome Renal cell carcinoma Ovarian cancer Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications	CA4448351	rs_376459715	7 SubmittersRCV000532305 RCV000592240 RCV001013919 RCV001328521 RCV003153672 RCV003459163
NM_000245.4(MET):c.2684C>T (p.Thr895Met)	SNV Germline	Chr7:116769745	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Condition: not provided Autosomal recessive nonsyndromic hearing loss 97 Hepatocellular carcinoma Papillary renal cell carcinoma type 1 Osteofibrous dysplasia Papillary renal cell carcinoma type 1 MET-related disorder	Criteria Provided Conflicting Classifications	CA4448549	rs_199502137	6 SubmittersRCV000541456 RCV001016448 RCV001591188 RCV002476079 RCV003444568 RCV003392361
NM_000245.4(MET):c.1238G>A (p.Arg413His)	SNV Germline	Chr7:116731705	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Condition: not provided Renal cell carcinoma	Criteria Provided Conflicting Classifications	CA4448120	rs_375391602	4 SubmittersRCV000527361 RCV000570024 RCV001576084 RCV001312224
NM_144997.7(FLCN):c.1432+8C>T	SNV Germline	Chr17:17215177	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Colorectal cancer Potocki-Lupski syndrome Birt-Hogg-Dube syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8416000	rs_201898226	3 SubmittersRCV000535879 RCV002506320 RCV003478136
NM_144997.7(FLCN):c.604G>A (p.Gly202Ser)	SNV Germline	Chr17:17223936	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Familial spontaneous pneumothorax Potocki-Lupski syndrome Birt-Hogg-Dube syndrome Nonpapillary renal cell carcinoma Colorectal cancer Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416374	rs_774491699	4 SubmittersRCV000545339 RCV000565519 RCV002476128 RCV004568773
NM_144997.7(FLCN):c.1373A>G (p.Gln458Arg)	SNV Germline	Chr17:17215244	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Colorectal cancer Potocki-Lupski syndrome Birt-Hogg-Dube syndrome	Criteria Provided Conflicting Classifications	CA8416015	rs_150439088	5 SubmittersRCV000558097 RCV001011243 RCV001775852 RCV002476127
NM_144997.7(FLCN):c.1193G>C (p.Gly398Ala)	SNV Germline	Chr17:17216487	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Colorectal cancer Potocki-Lupski syndrome Birt-Hogg-Dube syndrome	Criteria Provided Conflicting Classifications	CA8416100	rs_766801011	4 SubmittersRCV000530248 RCV002350218 RCV002497102
NM_144997.7(FLCN):c.498C>G (p.Phe166Leu)	SNV Germline	Chr17:17224042	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Colorectal cancer Potocki-Lupski syndrome Birt-Hogg-Dube syndrome	Criteria Provided Conflicting Classifications	CA288317129	rs_1040675580	5 SubmittersRCV000553117 RCV001023371 RCV001574889 RCV002483392
NM_144997.7(FLCN):c.634C>A (p.Gln212Lys)	SNV Germline	Chr17:17222646	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Colorectal cancer Potocki-Lupski syndrome Birt-Hogg-Dube syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8416347	rs_558699420	6 SubmittersRCV000527374 RCV001025165 RCV002490994 RCV003126810
NM_144997.7(FLCN):c.451G>A (p.Val151Met)	SNV Germline	Chr17:17224089	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Condition: not provided Birt-Hogg-Dube syndrome Carcinoma of colon Nonpapillary renal cell carcinoma Familial spontaneous pneumothorax Potocki-Lupski syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA8416395	rs_147164515	6 SubmittersRCV000532463 RCV000658774 RCV000765334 RCV001022629
NM_144997.7(FLCN):c.396+6C>T	SNV Germline	Chr17:17226170	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Colorectal cancer Potocki-Lupski syndrome Birt-Hogg-Dube syndrome Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA8416444	rs_747922795	3 SubmittersRCV000538911 RCV002483391 RCV004023834
NM_000245.4(MET):c.1099A>G (p.Ile367Val)	SNV Germline	Chr7:116700183	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Renal cell carcinoma Papillary renal cell carcinoma type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA4448069	rs_774146015	4 SubmittersRCV000574339 RCV000628727 RCV001788290 RCV002509445
NM_000245.4(MET):c.803C>T (p.Thr268Ile)	SNV Germline	Chr7:116699887	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1 Renal cell carcinoma	Criteria Provided Conflicting Classifications	CA4448031	rs_757427533	3 SubmittersRCV000572749 RCV000628723 RCV001293446
NM_000245.4(MET):c.818C>A (p.Thr273Asn)	SNV Germline	Chr7:116699902	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Renal cell carcinoma Osteofibrous dysplasia Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97 Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97 Condition: not provided	Criteria Provided Conflicting Classifications	CA4448034	rs_368144654	5 SubmittersRCV000564380 RCV000628765 RCV002483539 RCV003465263 RCV003237941
NM_144997.7(FLCN):c.673G>A (p.Ala225Thr)	SNV Germline	Chr17:17222607	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Colorectal cancer Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Potocki-Lupski syndrome	Criteria Provided Conflicting Classifications	CA8416341	rs_769250170	3 SubmittersRCV000560997 RCV001059272 RCV002491135
NM_144997.7(FLCN):c.134C>T (p.Ala45Val)	SNV Germline	Chr17:17228004	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Birt-Hogg-Dube syndrome Potocki-Lupski syndrome Birt-Hogg-Dube syndrome Colorectal cancer Nonpapillary renal cell carcinoma Familial spontaneous pneumothorax	Criteria Provided Conflicting Classifications	CA8416512	rs_556510460	7 SubmittersRCV000564102 RCV001171925 RCV001246934 RCV002483538
NM_144997.7(FLCN):c.1637A>G (p.Asn546Ser)	SNV Germline	Chr17:17213758	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome not specified Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome Potocki-Lupski syndrome Colorectal cancer Nonpapillary renal cell carcinoma Condition: not provided	Criteria Provided Conflicting Classifications	CA8415923	rs_775149348	6 SubmittersRCV000570961 RCV000635566 RCV002268200 RCV002483537 RCV002461370
NM_144997.7(FLCN):c.1285C>T (p.His429Tyr)	SNV Germline	Chr17:17216395	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Condition: not provided Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome Potocki-Lupski syndrome Colorectal cancer Nonpapillary renal cell carcinoma	Criteria Provided Conflicting Classifications	CA8416073	rs_375082054	4 SubmittersRCV000567009 RCV000812782 RCV001755958 RCV002497214
NM_144997.7(FLCN):c.707A>G (p.Asn236Ser)	SNV Germline	Chr17:17222573	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Potocki-Lupski syndrome Nonpapillary renal cell carcinoma Colorectal cancer Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications	CA398533958	rs_1194767470	4 SubmittersRCV000570714 RCV000692706 RCV002491136 RCV004569267
NM_144997.7(FLCN):c.1084C>T (p.Arg362Cys)	SNV Germline	Chr17:17217161	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome Potocki-Lupski syndrome Colorectal cancer Nonpapillary renal cell carcinoma not specified Condition: not provided FLCN-related disorder	Criteria Provided Conflicting Classifications	CA8416141	rs_557336321	8 SubmittersRCV000564803 RCV000691604 RCV001127833 RCV002483536 RCV003321681 RCV003478283 RCV003409849
NM_144997.7(FLCN):c.779+5C>T	SNV Germline	Chr17:17222496	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Birt-Hogg-Dube syndrome Colorectal cancer Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Potocki-Lupski syndrome	Criteria Provided Conflicting Classifications	CA8416320	rs_745645385	4 SubmittersRCV000561400 RCV000635571 RCV002506383
NM_000551.4(VHL):c.298A>G (p.Thr100Ala)	SNV Germline	Chr3:10142145	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Condition: not provided Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Pheochromocytoma Chuvash polycythemia	Criteria Provided Conflicting Classifications	CA040192	rs_745901803	6 SubmittersRCV000631270 RCV000997987 RCV002255483 RCV002477380
NM_000245.4(MET):c.850A>G (p.Ile284Val)	SNV Germline	Chr7:116699934	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Renal cell carcinoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA4448040	rs_776014448	3 SubmittersRCV000628763 RCV001312226 RCV002448925
NM_000245.4(MET):c.4016C>T (p.Ala1339Val)	SNV Germline	Chr7:116795967	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1 Condition: not provided Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications	CA369118216	rs_1453842331	6 SubmittersRCV000628762 RCV001021803 RCV003153770 RCV003232061 RCV003459488
NM_000245.4(MET):c.1306G>A (p.Glu436Lys)	SNV Germline	Chr7:116731773	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Renal cell carcinoma	Criteria Provided Conflicting Classifications	CA368972893	rs_200740468	3 SubmittersRCV000628755 RCV001010899 RCV001312217
NM_000245.4(MET):c.1862C>T (p.Thr621Ile)	SNV Germline	Chr7:116755515	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Condition: not provided Osteofibrous dysplasia Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97 Papillary renal cell carcinoma type 1	Criteria Provided Conflicting Classifications	CA4448286	rs_375951814	5 SubmittersRCV000628759 RCV001013433 RCV001756034 RCV002483765
NM_000245.4(MET):c.2375A>G (p.His792Arg)	SNV Germline	Chr7:116763060	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1 Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia	Criteria Provided Conflicting Classifications	CA164897661	rs_980467681	3 SubmittersRCV000628747 RCV001015499 RCV002477372
NM_000245.4(MET):c.4034T>C (p.Ile1345Thr)	SNV Germline	Chr7:116795985	Conflicting classifications of pathogenicity	Renal cell carcinoma Papillary renal cell carcinoma type 1 Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia Condition: not provided Hereditary cancer-predisposing syndrome Autosomal recessive nonsyndromic hearing loss 97 not specified	Criteria Provided Conflicting Classifications	CA4448820	rs_768188910	6 SubmittersRCV000628769 RCV000765921 RCV001766335 RCV001021839 RCV003459489 RCV002268220
NM_144997.7(FLCN):c.175C>T (p.Arg59Cys)	SNV Germline	Chr17:17227963	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Condition: not provided Colorectal cancer Birt-Hogg-Dube syndrome Nonpapillary renal cell carcinoma Familial spontaneous pneumothorax Potocki-Lupski syndrome	Criteria Provided Conflicting Classifications	CA8416508	rs_778275358	4 SubmittersRCV000635534 RCV001012999 RCV003223660 RCV002499066
NM_144997.7(FLCN):c.952G>A (p.Glu318Lys)	SNV Germline	Chr17:17219129	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Colorectal cancer Potocki-Lupski syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8416189	rs_756787389	4 SubmittersRCV000635565 RCV001019466 RCV002499067 RCV003238793
NM_000551.3(VHL):c.-73C>T	SNV Germline	Chr3:10141775	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Pheochromocytoma Von Hippel-Lindau syndrome not specified	Criteria Provided Conflicting Classifications		rs_1034934219	4 SubmittersRCV000764456 RCV001148529 RCV001796976
NM_000245.4(MET):c.2674G>A (p.Val892Ile)	SNV Germline	Chr7:116769735	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Renal cell carcinoma Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications		rs_761243391	5 SubmittersRCV001766471 RCV001016409 RCV000688057 RCV002291687 RCV003465564
NM_000245.4(MET):c.762A>C (p.Glu254Asp)	SNV Germline	Chr7:116699846	Conflicting classifications of pathogenicity	Hepatocellular carcinoma Autosomal recessive nonsyndromic hearing loss 97 Osteofibrous dysplasia Papillary renal cell carcinoma type 1 Condition: not provided Renal cell carcinoma Hereditary cancer-predisposing syndrome Autosomal recessive nonsyndromic hearing loss 97 Papillary renal cell carcinoma type 1 MET-related disorder	Criteria Provided Conflicting Classifications		rs_760278126	8 SubmittersRCV000765915 RCV001797126 RCV000688808 RCV001026638 RCV003465566 RCV002291688 RCV003953235
NM_144997.7(FLCN):c.86T>C (p.Leu29Pro)	SNV Germline	Chr17:17228052	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial spontaneous pneumothorax Potocki-Lupski syndrome Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome Colorectal cancer	Criteria Provided Conflicting Classifications		rs_150051278	4 SubmittersRCV000687044 RCV001556472 RCV002369833 RCV002485606
NM_000245.4(MET):c.1496A>G (p.Asn499Ser)	SNV Germline	Chr7:116740053	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Renal cell carcinoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1253878709	3 SubmittersRCV000709032 RCV001312214 RCV004026761
NM_000245.4(MET):c.2584-3C>T	SNV Germline	Chr7:116769642	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Renal cell carcinoma	Criteria Provided Conflicting Classifications		rs_1337305891	2 SubmittersRCV000709037 RCV003762862
NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter)	SNV Germline	Chr17:37739440	Pathogenic	Condition: not provided Renal cysts and diabetes syndrome Type 2 diabetes mellitus Nonpapillary renal cell carcinoma Renal cysts and diabetes syndrome Type 2 diabetes mellitus Maturity onset diabetes mellitus in young	Criteria Provided Multiple Submitters No Conflicts			10 SubmittersRCV000713802 RCV001281137 RCV003227842 RCV002499296 RCV002343589
NM_000458.4(HNF1B):c.865A>G (p.Asn289Asp)	SNV Germline	Chr17:37731775	Pathogenic/Likely pathogenic	Renal cysts and diabetes syndrome Type 2 diabetes mellitus Nonpapillary renal cell carcinoma Renal cysts and diabetes syndrome Hyperechogenic kidneys	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV000787125 RCV002493434 RCV003106062
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)	SNV Germline	Chr17:37739541	Pathogenic/Likely pathogenic	Congenital anomaly of kidney and urinary tract Renal cysts and diabetes syndrome Type 2 diabetes mellitus Nonpapillary renal cell carcinoma Renal cysts and diabetes syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			7 SubmittersRCV001328307 RCV001281300 RCV002501024 RCV001785725
NM_000458.4(HNF1B):c.232G>T (p.Glu78Ter)	SNV Germline	Chr17:37744653	Pathogenic	Renal cysts and diabetes syndrome Type 2 diabetes mellitus Type 2 diabetes mellitus Nonpapillary renal cell carcinoma Renal cysts and diabetes syndrome	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV000787244 RCV001029833 RCV002501025
NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe)	SNV Germline	Chr17:37744778	Conflicting classifications of pathogenicity	Renal cysts and diabetes syndrome Maturity onset diabetes mellitus in young Type 2 diabetes mellitus Nonpapillary renal cell carcinoma Renal cysts and diabetes syndrome Condition: not provided	Criteria Provided Conflicting Classifications			4 SubmittersRCV000787256 RCV001248883 RCV002487621 RCV002535751
NM_000458.4(HNF1B):c.809+1G>A	SNV Germline	Chr17:37733556	Pathogenic/Likely pathogenic	Renal cysts and diabetes syndrome Type 2 diabetes mellitus Nonpapillary renal cell carcinoma Renal cysts and diabetes syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV000787142 RCV002487620 RCV003546602
NM_000245.4(MET):c.1973T>C (p.Val658Ala)	SNV Germline	Chr7:116757645	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Renal cell carcinoma	Criteria Provided Conflicting Classifications		rs_1584941533	2 SubmittersRCV000818405 RCV001358785
NM_000245.4(MET):c.4118A>G (p.Asp1373Gly)	SNV Germline	Chr7:116796069	Conflicting classifications of pathogenicity	Renal cell carcinoma Papillary renal cell carcinoma type 1 Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_773898036	4 SubmittersRCV000823281 RCV002254714 RCV002332721 RCV002464330
NM_144997.7(FLCN):c.1363G>A (p.Glu455Lys)	SNV Germline	Chr17:17215254	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Condition: not provided Hereditary cancer-predisposing syndrome Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Potocki-Lupski syndrome Colorectal cancer FLCN-related disorder Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications		rs_759637055	6 SubmittersRCV000802282 RCV002259371 RCV002386430 RCV002477837 RCV003908098 RCV004569584
NM_144997.7(FLCN):c.1337G>A (p.Arg446His)	SNV Germline	Chr17:17215280	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial spontaneous pneumothorax Colorectal cancer Nonpapillary renal cell carcinoma Potocki-Lupski syndrome Birt-Hogg-Dube syndrome	Criteria Provided Conflicting Classifications		rs_750104212	4 SubmittersRCV000809356 RCV001010835 RCV002307624 RCV002501096
NM_144997.7(FLCN):c.802C>T (p.Arg268Trp)	SNV Germline	Chr17:17221606	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified Familial spontaneous pneumothorax Colorectal cancer Nonpapillary renal cell carcinoma Potocki-Lupski syndrome Birt-Hogg-Dube syndrome FLCN-related disorder	Criteria Provided Conflicting Classifications		rs_762370059	6 SubmittersRCV000819183 RCV001027085 RCV001824384 RCV002268311 RCV002507435 RCV003892754
NM_000245.4(MET):c.2102+7T>C	SNV Germline	Chr7:116757781	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Renal cell carcinoma	Criteria Provided Conflicting Classifications		rs_1584941903	2 SubmittersRCV000987948 RCV001391321
NM_000245.4(MET):c.600C>G (p.Thr200=)	SNV Germline	Chr7:116699684	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Condition: not provided Renal cell carcinoma Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1225303075	4 SubmittersRCV000871402 RCV001585834 RCV001420969 RCV002352580
NM_004958.4(MTOR):c.3026G>A (p.Arg1009Gln)	SNV Unknown	Chr1:11228672	Pathogenic	Papillary renal cell carcinoma type 1	Criteria Provided Single Submitter		rs_778855567	1 SubmittersRCV000986236
NM_004958.4(MTOR):c.889G>A (p.Asp297Asn)	SNV Germline	Chr1:11248046	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_141936187	5 SubmittersRCV000986237 RCV001519677 RCV001815014
NM_000245.4(MET):c.1627G>A (p.Asp543Asn)	SNV Germline	Chr7:116740951	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Renal cell carcinoma Papillary renal cell carcinoma type 1 Autosomal recessive nonsyndromic hearing loss 97	Criteria Provided Conflicting Classifications		rs_763991073	4 SubmittersRCV001012479 RCV001860711 RCV003153883 RCV003467603
NM_144997.7(FLCN):c.734C>A (p.Thr245Lys)	SNV Germline	Chr17:17222546	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Birt-Hogg-Dube syndrome Birt-Hogg-Dube syndrome 1 Colorectal cancer Nonpapillary renal cell carcinoma Birt-Hogg-Dube syndrome Familial spontaneous pneumothorax Potocki-Lupski syndrome	Criteria Provided Conflicting Classifications		rs_371401039	6 SubmittersRCV001026310 RCV001759715 RCV001247341 RCV004570066 RCV002481835
NM_144997.7(FLCN):c.562T>A (p.Phe188Ile)	SNV Germline	Chr17:17223978	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Birt-Hogg-Dube syndrome Potocki-Lupski syndrome Colorectal cancer Familial spontaneous pneumothorax Nonpapillary renal cell carcinoma Hereditary cancer-predisposing syndrome Ovarian cancer	Criteria Provided Conflicting Classifications		rs_1407566775	4 SubmittersRCV001056721 RCV002505612 RCV002348418 RCV003153913
NM_144997.7(FLCN):c.179C>T (p.Ala60Val)	SNV Germline	Chr17:17227959	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Potocki-Lupski syndrome Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome Nonpapillary renal cell carcinoma Colorectal cancer Condition: not provided FLCN-related disorder	Criteria Provided Conflicting Classifications		rs_779900587	5 SubmittersRCV001048408 RCV002409416 RCV002481942 RCV003442168 RCV003393808
NM_000551.4(VHL):c.340+578C>T	SNV Germline	Chr3:10142765	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Pheochromocytoma Chuvash polycythemia Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma not specified Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications		rs_139622356	5 SubmittersRCV001053915 RCV002497415 RCV003320798 RCV003316825
NM_144997.7(FLCN):c.1300+4C>T	SNV Germline	Chr17:17216376	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Potocki-Lupski syndrome Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome Nonpapillary renal cell carcinoma Colorectal cancer Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications		rs_1207963576	3 SubmittersRCV001063632 RCV002479376 RCV004030499
NM_000245.4(MET):c.2673C>T (p.Ala891=)	SNV Germline	Chr7:116769734	Conflicting classifications of pathogenicity	Papillary renal cell carcinoma type 1 Renal cell carcinoma Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications		rs_561131509	4 SubmittersRCV001161417 RCV001503608 RCV002429783 RCV003320806
NM_000245.4(MET):c.4122C>A (p.Asn1374Lys)	SNV Germline	Chr7:116796073	Conflicting classifications of pathogenicity	Renal cell carcinoma Hereditary cancer-predisposing syndrome Osteofibrous dysplasia Autosomal recessive nonsyndromic hearing loss 97 Papillary renal cell carcinoma type 1 Hepatocellular carcinoma	Criteria Provided Conflicting Classifications		rs_370767911	4 SubmittersRCV001247842 RCV002259098 RCV002480850
NM_000458.4(HNF1B):c.660T>C (p.Asp220=)	SNV Germline	Chr17:37733706	Conflicting classifications of pathogenicity	Maturity onset diabetes mellitus in young not specified Condition: not provided Renal cysts and diabetes syndrome Nonpapillary renal cell carcinoma Type 2 diabetes mellitus HNF1B-related disorder	Criteria Provided Conflicting Classifications		rs_779375959	6 SubmittersRCV001248887 RCV001819954 RCV002069316 RCV002491851 RCV003945947
NM_000551.4(VHL):c.88G>C (p.Gly30Arg)	SNV Germline	Chr3:10141935	Conflicting classifications of pathogenicity	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Nonpapillary renal cell carcinoma Pheochromocytoma Chuvash polycythemia Von Hippel-Lindau syndrome	Criteria Provided Conflicting Classifications		rs_913104799	4 SubmittersRCV001351817 RCV002377495 RCV002486456 RCV004005245
NM_144997.7(FLCN):c.1709G>T (p.Arg570Leu)	SNV Germline	Chr17:17213686	Conflicting classifications of pathogenicity	Birt-Hogg-Dube syndrome Hereditary cancer-predisposing syndrome Familial spontaneous pneumothorax Birt-Hogg-Dube syndrome Potocki-Lupski syndrome Nonpapillary renal cell carcinoma Colorectal cancer Birt-Hogg-Dube syndrome 1	Criteria Provided Conflicting Classifications		rs_201056799	4 SubmittersRCV001347686 RCV002404819 RCV002493791 RCV004570844
NM_000245.4(MET):c.2828C>T (p.Thr943Ile)	SNV Germline	Chr7:116771595	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Papillary renal cell carcinoma type 1 Renal cell carcinoma	Criteria Provided Conflicting Classifications		rs_2116992551	3 SubmittersRCV002440897 RCV001829264 RCV002545205
NM_000458.4(HNF1B):c.634C>T (p.Gln212Ter)	SNV Germline	Chr17:37733732	Pathogenic/Likely pathogenic	Condition: not provided Renal cysts and diabetes syndrome Type 2 diabetes mellitus Nonpapillary renal cell carcinoma	Criteria Provided Multiple Submitters No Conflicts		rs_2147553451	2 SubmittersRCV001953701 RCV002492130