Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)	SNV Germline/somatic	Chr10:87957915	Pathogenic/Likely pathogenic	Cowden syndrome 1 PTEN hamartoma tumor syndrome Hereditary cancer-predisposing syndrome Glioblastoma Macrocephaly-autism syndrome Breast neoplasm Neoplasm of the large intestine Condition: not provided Cowden syndrome Non-small cell lung carcinoma Neoplasm of ovary Abnormal cardiovascular system morphology Glioma susceptibility 2 Gastric cancer PTEN-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA000549	rs_121909219	28 SubmittersRCV000008256 RCV000128455 RCV000162649 RCV000436969 RCV000477737 RCV000427583 RCV000434092 RCV000212882 RCV000678740 RCV000444248 RCV000785383 RCV001327980 RCV003466836 RCV003162216 RCV004532309
NM_004985.5(KRAS):c.34G>T (p.Gly12Cys)	SNV Germline/somatic	Chr12:25245351	Likely pathogenic	Non-small cell lung carcinoma Lung carcinoma Lung adenocarcinoma Neoplasm of the large intestine Endometrial carcinoma Thyroid tumor Neoplasm of ovary Gallbladder cancer RASopathy Condition: not provided Lung cancer	Criteria Provided Single Submitter	CA122528	rs_121913530	9 SubmittersRCV000038265 RCV000013406 RCV000431049 RCV000435281 RCV000119791 RCV000418063 RCV000420450 RCV001292543 RCV003654176 RCV001355787 RCV003996092
NM_004985.5(KRAS):c.34G>C (p.Gly12Arg)	SNV Germline/somatic	Chr12:25245351	Pathogenic/Likely pathogenic	Malignant tumor of urinary bladder Squamous cell lung carcinoma Non-small cell lung carcinoma Thyroid tumor Neoplasm of ovary Neoplasm of the large intestine Condition: not provided Adenoid cystic carcinoma RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA122531	rs_121913530	7 SubmittersRCV000013408 RCV000013407 RCV000154401 RCV000422773 RCV000433472 RCV000441777 RCV001356365 RCV000585776 RCV002513010
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)	SNV Germline/somatic	Chr12:25245347	Conflicting classifications of pathogenicity	Breast adenocarcinoma Non-small cell lung carcinoma Juvenile myelomonocytic leukemia Autoimmune lymphoproliferative syndrome type 4 Acute myeloid leukemia Neoplasm of the large intestine Neoplasm of ovary Thyroid tumor Condition: not provided Inborn genetic diseases Nevus sebaceous OCULOECTODERMAL SYNDROME, SOMATIC Noonan syndrome and Noonan-related syndrome Encephalocraniocutaneous lipomatosis RASopathy KRAS-related disorder	Criteria Provided Conflicting Classifications	CA122534	rs_112445441	14 SubmittersRCV000013409 RCV000038269 RCV000144967 RCV000144968 RCV000431806 RCV000421576 RCV000444192 RCV000427102 RCV001092389 RCV001266168 RCV001526657 RCV000791297 RCV001813183 RCV001839444 RCV001857340 RCV004549358
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)	SNV Germline/somatic	Chr12:25245350	Pathogenic/Likely pathogenic	Carcinoma of pancreas Epidermal nevus Nevus sebaceous Linear nevus sebaceous syndrome Juvenile myelomonocytic leukemia Autoimmune lymphoproliferative syndrome type 4 Non-small cell lung carcinoma Neoplasm of ovary Condition: not provided Acute myeloid leukemia Lung carcinoma Thyroid tumor RASopathy Cerebral arteriovenous malformation Vascular Tumors Including Pyogenic Granuloma Neoplasm of the large intestine Primary low grade serous adenocarcinoma of ovary Encephalocraniocutaneous lipomatosis Capillary malformation-arteriovenous malformation 1 Congenital Pulmonary Airway Malformations Gastric cancer Atypical endometrial hyperplasia Endometrial hyperplasia without atypia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA122538	rs_121913529	22 SubmittersRCV000013411 RCV000022799 RCV000029214 RCV000029215 RCV000144969 RCV000144970 RCV000150896 RCV000150897 RCV000272938 RCV000433573 RCV000425250 RCV000443973 RCV000548006 RCV000585796 RCV000662266 RCV000426369 RCV000856666 RCV001839445 RCV001799604 RCV004554600 RCV002508117 RCV003327361 RCV004018620
NM_004985.5(KRAS):c.35G>T (p.Gly12Val)	SNV Germline/somatic	Chr12:25245350	Pathogenic	Nevus sebaceous Carcinoma of pancreas Juvenile myelomonocytic leukemia Non-small cell lung carcinoma Thyroid tumor Acute myeloid leukemia Condition: not provided Neoplasm of ovary Neoplasm of the large intestine Cerebral arteriovenous malformation Chronic myelogenous leukemia, BCR-ABL1 positive Linear nevus sebaceous syndrome Lung sarcomatoid carcinoma RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA122540	rs_121913529	12 SubmittersRCV000029216 RCV000013413 RCV000150895 RCV000154262 RCV000417765 RCV000439750 RCV000157944 RCV000428010 RCV000439101 RCV000585801 RCV002291496 RCV003455987 RCV003322589 RCV003539760
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser)	SNV Germline/somatic	Chr12:25245351	Pathogenic	Non-small cell lung carcinoma Gastric cancer Juvenile myelomonocytic leukemia Neoplasm of ovary Thyroid tumor Neoplasm of the large intestine RASopathy Condition: not provided Vascular malformation	Criteria Provided Multiple Submitters No Conflicts	CA135565	rs_121913530	10 SubmittersRCV000038264 RCV000013414 RCV000144971 RCV000119790 RCV000432392 RCV000445081 RCV001851824 RCV000782191 RCV004562205
NM_004985.5(KRAS):c.37G>C (p.Gly13Arg)	SNV Somatic	Chr12:25245348	Pathogenic	Pilocytic astrocytoma Non-small cell lung carcinoma Neoplasm of the large intestine Thyroid tumor Condition: not provided	Criteria Provided Single Submitter	CA122542	rs_121913535	4 SubmittersRCV000013424 RCV000038267 RCV000426673 RCV000436657 RCV001357137
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_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_004333.6(BRAF):c.1801A>G (p.Lys601Glu)	SNV Somatic	Chr7:140753334	Pathogenic	Thyroid cancer, nonmedullary, 2 Carcinoma of colon Non-small cell lung carcinoma Gastric adenocarcinoma B-cell chronic lymphocytic leukemia Lung adenocarcinoma Neoplasm Malignant neoplasm of body of uterus Malignant melanoma of skin Thyroid tumor Melanoma Prostate adenocarcinoma	Criteria Provided Single Submitter	CA123645	rs_121913364	4 SubmittersRCV000015000 RCV000014999 RCV000037938 RCV000423181 RCV000440232 RCV000433498 RCV000443528 RCV000422559 RCV000425399 RCV000432202 RCV000440872 RCV000432849
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val)	SNV Somatic	Chr7:140781611	Pathogenic/Likely pathogenic	Lung adenocarcinoma Non-small cell lung carcinoma Multiple myeloma Malignant melanoma of skin Neoplasm of the large intestine Lung carcinoma Squamous cell lung carcinoma Squamous cell carcinoma of the head and neck	No Assertion Criteria Provided	CA123647	rs_121913351	3 SubmittersRCV000015001 RCV000037916 RCV000421693 RCV000424032 RCV000429151 RCV000436576 RCV000438953 RCV000438708
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val)	SNV Germline/somatic	Chr7:140753346	Pathogenic	Non-small cell lung carcinoma Noonan syndrome 7 Noonan syndrome Cardio-facio-cutaneous syndrome Melanoma Lung carcinoma Noonan syndrome 1 Neoplasm Condition: not provided Noonan syndrome and Noonan-related syndrome Cardio-facio-cutaneous syndrome RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA123651	rs_121913369	12 SubmittersRCV000015003 RCV000030948 RCV000033333 RCV000426915 RCV000419516 RCV000208539 RCV000437189 RCV000505705 RCV001813207 RCV002271369 RCV002513056
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala)	SNV Somatic	Chr7:140781602	Pathogenic	Non-Hodgkin lymphoma Non-small cell lung carcinoma Neoplasm of the large intestine Squamous cell carcinoma of the skin Neoplasm Lung adenocarcinoma Malignant melanoma of skin Squamous cell lung carcinoma Prostate adenocarcinoma Multiple myeloma Lung carcinoma Transitional cell carcinoma of the bladder	Criteria Provided Single Submitter	CA123655	rs_121913355	3 SubmittersRCV000015005 RCV000150210 RCV000419278 RCV000422572 RCV000421485 RCV000430006 RCV000432193 RCV000432393 RCV000439564 RCV000444131 RCV000440864 RCV000439801
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly)	SNV Germline/somatic	Chr7:140753354	Conflicting classifications of pathogenicity	Non-Hodgkin lymphoma Non-small cell lung carcinoma B-cell chronic lymphocytic leukemia Malignant melanoma of skin Lung adenocarcinoma Adrenal cortex carcinoma Transitional cell carcinoma of the bladder Melanoma Squamous cell carcinoma of the head and neck Neoplasm of brain Neoplasm of the large intestine RASopathy Multiple myeloma	Criteria Provided Conflicting Classifications	CA123657	rs_121913338	5 SubmittersRCV000015006 RCV000037932 RCV000418680 RCV000423919 RCV000426107 RCV000433779 RCV000437006 RCV000426339 RCV000435875 RCV000443065 RCV000443882 RCV001238853 RCV000442759
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys)	SNV Germline/somatic	Chr14:104780214	Pathogenic	Breast adenocarcinoma Carcinoma of colon Neoplasm of ovary Proteus syndrome Breast neoplasm Non-small cell lung carcinoma Neoplasm of uterine cervix Squamous cell lung carcinoma Transitional cell carcinoma of the bladder Hepatocellular carcinoma Prostate adenocarcinoma Small cell lung carcinoma Gastric adenocarcinoma Malignant melanoma of skin Neoplasm of the large intestine Squamous cell carcinoma of the head and neck Tumor of meninges Thyroid tumor Bone osteosarcoma Prostate neoplasm Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation Lung adenocarcinoma Cowden syndrome 6 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA123660	rs_121434592	6 SubmittersRCV000015017 RCV000015018 RCV000015019 RCV000031926 RCV000430173 RCV000436698 RCV000438154 RCV000440828 RCV000443761 RCV000444311 RCV000419412 RCV000421850 RCV000427484 RCV000426386 RCV000429060 RCV000439982 RCV000434120 RCV000421009 RCV000421696 RCV000445271 RCV000431237 RCV000431723 RCV000795313 RCV001813745
NM_002198.3(IRF1):c.31T>C (p.Trp11Arg)	SNV Somatic	Chr5:132489448	Pathogenic	Non-small cell lung carcinoma	No Assertion Criteria Provided	CA124285	rs_121912470	1 SubmittersRCV000015841
NM_005228.5(EGFR):c.2155G>T (p.Gly719Cys)	SNV Somatic	Chr7:55174014	Pathogenic/Likely pathogenic; drug response	Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic Non-small cell lung carcinoma Glioblastoma Lung adenocarcinoma	No Assertion Criteria Provided	CA126719	rs_28929495	3 SubmittersRCV000018086 RCV000038380 RCV000426731 RCV000433465
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)	SNV Germline/somatic	Chr3:179218294	Pathogenic	CLOVES syndrome Neoplasm of ovary Non-small cell lung carcinoma Condition: not provided Small cell lung carcinoma Neoplasm of the large intestine Squamous cell lung carcinoma Transitional cell carcinoma of the bladder Lung adenocarcinoma Breast neoplasm Carcinoma of esophagus Malignant neoplasm of body of uterus Gastric adenocarcinoma Prostate adenocarcinoma Neoplasm of brain Glioblastoma Squamous cell carcinoma of the head and neck Neoplasm of uterine cervix Papillary renal cell carcinoma, sporadic Hepatocellular carcinoma CLAPO syndrome Lip and oral cavity carcinoma CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC Abnormal cardiovascular system morphology Cerebrofacial Vascular Metameric Syndrome (CVMS) Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Cowden syndrome PIK3CA-related overgrowth PIK3CA-related disorder PIK3CA related overgrowth syndrome HEMIFACIAL MYOHYPERPLASIA, SOMATIC Rare venous malformation	Reviewed By Expert Panel	CA333572	rs_121913273	17 SubmittersRCV000024622 RCV000151649 RCV000154513 RCV000416776 RCV000431000 RCV000431872 RCV000436932 RCV000438815 RCV000441707 RCV000442348 RCV000419905 RCV000420078 RCV000419440 RCV000426691 RCV000421639 RCV000433007 RCV000425548 RCV000430763 RCV000435811 RCV000445059 RCV000709693 RCV001255687 RCV001728093 RCV001327962 RCV001730477 RCV001836714 RCV002513230 RCV003987334 RCV004532404 RCV003458190 RCV003764635 RCV004527296
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)	SNV Germline/somatic	Chr1:114716126	Pathogenic/Likely pathogenic	Epidermal nevus Juvenile myelomonocytic leukemia Condition: not provided Non-small cell lung carcinoma Malignant melanoma of skin Myelodysplastic syndrome Neoplasm of the large intestine Gastric adenocarcinoma Malignant neoplasm of body of uterus Multiple myeloma Melanoma Acute myeloid leukemia NRAS-related disorder Cardiovascular phenotype RASopathy Noonan syndrome 6 Noonan syndrome and Noonan-related syndrome Autoimmune lymphoproliferative syndrome type 4	Criteria Provided Multiple Submitters No Conflicts	CA130425	rs_121913237	10 SubmittersRCV000032849 RCV000144963 RCV000158980 RCV000439064 RCV000440963 RCV000424239 RCV000427949 RCV000434517 RCV000430706 RCV000417702 RCV000417869 RCV000436228 RCV003415756 RCV004018703 RCV001852659 RCV001781333 RCV001813214 RCV003221788
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)	SNV Germline/somatic	Chr3:179234296	Pathogenic	Megalencephaly-capillary malformation-polymicrogyria syndrome Non-small cell lung carcinoma Gastric adenocarcinoma Lung adenocarcinoma Ovarian serous cystadenocarcinoma Neoplasm of the large intestine Adrenal cortex carcinoma Malignant neoplasm of body of uterus Squamous cell lung carcinoma Malignant melanoma of skin Brainstem glioma Squamous cell carcinoma of the head and neck Pancreatic adenocarcinoma Hepatocellular carcinoma Malignant tumor of floor of mouth Glioblastoma Transitional cell carcinoma of the bladder Cowden syndrome Medulloblastoma Prostate adenocarcinoma Neoplasm of brain Carcinoma of esophagus Uterine carcinosarcoma Neoplasm of uterine cervix Breast neoplasm Papillary renal cell carcinoma type 1 13 conditions Condition: not provided Segmental undergrowth associated with mainly venous malformation with capillary component CLOVES syndrome PIK3CA related overgrowth syndrome HEMIFACIAL MYOHYPERPLASIA, SOMATIC	Criteria Provided Multiple Submitters No Conflicts	CA130471	rs_121913281	13 SubmittersRCV000032909 RCV000038675 RCV000425119 RCV000432323 RCV000436090 RCV000441963 RCV000444680 RCV000423369 RCV000425540 RCV000425809 RCV000435399 RCV000440398 RCV000441716 RCV000418438 RCV000420550 RCV000428005 RCV000435124 RCV000698423 RCV000417782 RCV000422744 RCV000424877 RCV000430750 RCV000432906 RCV000433635 RCV000441028 RCV000442782 RCV000763508 RCV001092441 RCV001705625 RCV002226661 RCV003233079 RCV003882732
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val)	SNV Germline/somatic	Chr7:140781617	Pathogenic/Likely pathogenic	RASopathy Non-small cell lung carcinoma Breast neoplasm Neoplasm Condition: not provided Noonan syndrome and Noonan-related syndrome Cardiofaciocutaneous syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA135076	rs_121913348	6 SubmittersRCV000033302 RCV000037914 RCV000426199 RCV000442182 RCV001811232 RCV001813221 RCV002250499
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr)	SNV Germline	Chr11:533881	Likely pathogenic	Non-small cell lung carcinoma Costello syndrome	Reviewed By Expert Panel	CA176353	rs_727503093	4 SubmittersRCV000150834 RCV000150835
NM_002524.5(NRAS):c.34G>T (p.Gly12Cys)	SNV Germline/somatic	Chr1:114716127	Pathogenic	Condition: not provided Malignant neoplasm of body of uterus Neoplasm of the large intestine Multiple myeloma Acute myeloid leukemia Non-small cell lung carcinoma Malignant melanoma of skin Melanoma Gastric adenocarcinoma Myelodysplastic syndrome Chronic myelogenous leukemia, BCR-ABL1 positive	Criteria Provided Single Submitter	CA297020	rs_121913250	3 SubmittersRCV000158979 RCV000422059 RCV000422738 RCV000425805 RCV000433830 RCV000440380 RCV000435186 RCV000444830 RCV000432311 RCV000445013 RCV002291497
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg)	SNV Germline/somatic	Chr1:114716127	Pathogenic	Condition: not provided Multiple myeloma Acute myeloid leukemia Chronic myelogenous leukemia, BCR-ABL1 positive Neoplasm of the large intestine Non-small cell lung carcinoma Malignant melanoma of skin Malignant neoplasm of body of uterus Myelodysplastic syndrome Gastric adenocarcinoma Melanoma Noonan syndrome 6 Increased nuchal translucency	Criteria Provided Multiple Submitters No Conflicts	CA297030	rs_121913250	6 SubmittersRCV000158985 RCV000420396 RCV000423088 RCV000430635 RCV000435447 RCV000425150 RCV000430032 RCV000438291 RCV000440262 RCV000420637 RCV000444217 RCV001781335 RCV001526619
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)	SNV Germline/somatic	Chr15:66435145	Pathogenic	RASopathy Condition: not provided Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 3 Melanoma Non-small cell lung carcinoma Autism spectrum disorder Noonan syndrome Cardio-facio-cutaneous syndrome MAP2K1-related RASopathy Cardiovascular phenotype Melorheostosis Cardiofaciocutaneous syndrome 3	Reviewed By Expert Panel	CA180743	rs_727504317	16 SubmittersRCV000158004 RCV000212506 RCV000208771 RCV000192193 RCV000423708 RCV000439184 RCV000754677 RCV000844673 RCV001095724 RCV002415455 RCV003224114
NM_004333.6(BRAF):c.1396G>A (p.Gly466Arg)	SNV Somatic	Chr7:140781612	Pathogenic/Likely pathogenic	Non-small cell lung carcinoma Neoplasm of ovary Vascular malformation	Criteria Provided Multiple Submitters No Conflicts	CA135079	rs_121913353	3 SubmittersRCV000037915 RCV000428876 RCV004562228
NM_004333.6(BRAF):c.1406G>T (p.Gly469Val)	SNV Somatic	Chr7:140781602	Pathogenic	Non-small cell lung carcinoma Prostate adenocarcinoma Squamous cell carcinoma of the skin Multiple myeloma Lung adenocarcinoma Neoplasm of the large intestine Squamous cell lung carcinoma Neoplasm Transitional cell carcinoma of the bladder Malignant melanoma of skin	Criteria Provided Single Submitter	CA135085	rs_121913355	2 SubmittersRCV000037919 RCV000425868 RCV000436583 RCV000418480 RCV000427987 RCV000420102 RCV000445054 RCV000430773 RCV000435417 RCV000436805
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn)	SNV Germline/somatic	Chr7:140753355	Likely pathogenic	Non-small cell lung carcinoma Transitional cell carcinoma of the bladder Neoplasm of the large intestine Malignant melanoma of skin Multiple myeloma Melanoma Lung adenocarcinoma B-cell chronic lymphocytic leukemia Neoplasm of brain Squamous cell carcinoma of the head and neck Adrenal cortex carcinoma Prostate cancer, hereditary, 1	Criteria Provided Single Submitter	CA135095	rs_397516896	4 SubmittersRCV000037931 RCV000417722 RCV000425110 RCV000432782 RCV000432575 RCV000440132 RCV000443573 RCV000422928 RCV000425325 RCV000434944 RCV000444338 RCV002291550
NM_004333.6(BRAF):c.1798G>A (p.Val600Met)	SNV Somatic	Chr7:140753337	Likely pathogenic	Non-small cell lung carcinoma Melanoma Condition: not provided	Criteria Provided Single Submitter	CA135101	rs_121913378	3 SubmittersRCV000037934 RCV000429286 RCV001357636
NM_004333.6(BRAF):c.1798G>T (p.Val600Leu)	SNV Somatic	Chr7:140753337	Likely pathogenic	Non-small cell lung carcinoma Melanoma Myoepithelial tumor	Criteria Provided Single Submitter	CA135104	rs_121913378	3 SubmittersRCV000037935 RCV000435048 RCV002463625
NM_004985.5(KRAS):c.182A>G (p.Gln61Arg)	SNV Germline/somatic	Chr12:25227342	Conflicting classifications of pathogenicity	Noonan syndrome Neoplasm of the large intestine Non-small cell lung carcinoma Thyroid tumor RASopathy Noonan syndrome and Noonan-related syndrome Lung cancer	Criteria Provided Conflicting Classifications	CA261702	rs_121913240	5 SubmittersRCV000038257 RCV000420152 RCV000431260 RCV000438012 RCV001209740 RCV001813342 RCV003996395
NM_004985.5(KRAS):c.182A>T (p.Gln61Leu)	SNV Somatic	Chr12:25227342	Pathogenic	Non-small cell lung carcinoma Medullary thyroid carcinoma Thyroid tumor Neoplasm of the large intestine Multiple myeloma	Criteria Provided Single Submitter	CA210876	rs_121913240	4 SubmittersRCV000038258 RCV000202407 RCV000437806 RCV000443593 RCV000984128
NM_004985.5(KRAS):c.183A>T (p.Gln61His)	SNV Somatic	Chr12:25227341	Pathogenic/Likely pathogenic	Non-small cell lung carcinoma Neoplasm of the large intestine Malignant melanoma of skin Thyroid tumor Malignant neoplasm of body of uterus Hepatocellular carcinoma Gastric adenocarcinoma Lung adenocarcinoma B-cell chronic lymphocytic leukemia Transitional cell carcinoma of the bladder Pancreatic adenocarcinoma Squamous cell lung carcinoma Multiple myeloma Acute myeloid leukemia Cerebral arteriovenous malformation	No Assertion Criteria Provided	CA135552	rs_17851045	3 SubmittersRCV000038259 RCV000417543 RCV000421965 RCV000423952 RCV000430651 RCV000433564 RCV000441804 RCV000420404 RCV000433108 RCV000440092 RCV000445124 RCV000423293 RCV000429878 RCV000435442 RCV003445113
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala)	SNV Germline/somatic	Chr12:25245350	Likely pathogenic	Non-small cell lung carcinoma Lung adenocarcinoma Gastrointestinal stromal tumor Neoplasm of the large intestine Neoplasm of ovary Multiple myeloma Condition: not provided Gallbladder cancer Lung cancer KRAS-related disorder	Criteria Provided Single Submitter	CA135567	rs_121913529	7 SubmittersRCV000038266 RCV000423968 RCV000441134 RCV000434342 RCV000443636 RCV000984117 RCV001355876 RCV001374446 RCV003996396 RCV004549454
NM_004985.5(KRAS):c.37G>T (p.Gly13Cys)	SNV Germline/somatic	Chr12:25245348	Pathogenic/Likely pathogenic	Non-small cell lung carcinoma Autoimmune lymphoproliferative syndrome type 4 Neoplasm of the large intestine Condition: not provided KRAS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA135570	rs_121913535	9 SubmittersRCV000038268 RCV000144972 RCV000443868 RCV000681039 RCV003335071
NM_004985.5(KRAS):c.38G>T (p.Gly13Val)	SNV Somatic	Chr12:25245347	Pathogenic	Non-small cell lung carcinoma Neoplasm of the large intestine Thyroid tumor Condition: not provided	Criteria Provided Single Submitter	CA135573	rs_112445441	3 SubmittersRCV000038270 RCV000439931 RCV000422238 RCV001355269
NM_004985.5(KRAS):c.39C>T (p.Gly13=)	SNV Germline/somatic	Chr12:25245346	Likely pathogenic	Non-small cell lung carcinoma Condition: not provided Prostate cancer, hereditary, 1	Criteria Provided Single Submitter	CA135576	rs_397517040	3 SubmittersRCV000038271 RCV001357774 RCV002291551
NM_005228.5(EGFR):c.2155G>C (p.Gly719Arg)	SNV Somatic	Chr7:55174014	Likely pathogenic; drug response	Non-small cell lung carcinoma Squamous cell carcinoma of the head and neck	No Assertion Criteria Provided	CA135772	rs_28929495	2 SubmittersRCV000038379 RCV000114405
NM_005228.5(EGFR):c.2156G>C (p.Gly719Ala)	SNV Germline/somatic	Chr7:55174015	Pathogenic	Non-small cell lung carcinoma Glioblastoma Lung adenocarcinoma	Criteria Provided Single Submitter	CA135775	rs_121913428	3 SubmittersRCV000038381 RCV000426037 RCV000436293
NM_005228.5(EGFR):c.2248G>C (p.Ala750Pro)	SNV Somatic	Chr7:55174785	Conflicting classifications of pathogenicity	not specified Non-small cell lung carcinoma Lung adenocarcinoma	No Assertion Criteria Provided	CA135812	rs_121913229	2 SubmittersRCV000038395 RCV000425827 RCV000442888
NM_005228.5(EGFR):c.2281G>T (p.Asp761Tyr)	SNV Somatic	Chr7:55174818	Conflicting classifications of pathogenicity	not specified Non-small cell lung carcinoma	No Assertion Criteria Provided	CA135827	rs_121913418	2 SubmittersRCV000038400 RCV000435465
NM_005228.5(EGFR):c.2303G>T (p.Ser768Ile)	SNV Germline/somatic	Chr7:55181312	Pathogenic	Non-small cell lung carcinoma Squamous cell lung carcinoma Carcinoma of esophagus	Criteria Provided Single Submitter	CA135840	rs_121913465	3 SubmittersRCV000038407 RCV000435248 RCV000428042
NM_005228.5(EGFR):c.2500G>T (p.Val834Leu)	SNV Somatic	Chr7:55191749	Pathogenic	Non-small cell lung carcinoma Lung adenocarcinoma	Criteria Provided Single Submitter	CA135920	rs_397517127	2 SubmittersRCV000038435 RCV003996408
NM_006218.4(PIK3CA):c.3073A>G (p.Thr1025Ala)	SNV Germline/somatic	Chr3:179234230	Pathogenic/Likely pathogenic	Non-small cell lung carcinoma CLOVES syndrome Condition: not provided PIK3CA related overgrowth syndrome	Criteria Provided Multiple Submitters No Conflicts	CA136374	rs_397517202	5 SubmittersRCV000038673 RCV001526503 RCV002254274 RCV003458194
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_002524.5(NRAS):c.34G>A (p.Gly12Ser)	SNV Germline/somatic	Chr1:114716127	Pathogenic	Juvenile myelomonocytic leukemia Noonan syndrome Condition: not provided Gastric adenocarcinoma Melanoma Multiple myeloma Non-small cell lung carcinoma Myelodysplastic syndrome Malignant melanoma of skin Malignant neoplasm of body of uterus Neoplasm of the large intestine Acute myeloid leukemia RASopathy Noonan syndrome and Noonan-related syndrome Noonan syndrome 6	Criteria Provided Multiple Submitters No Conflicts	CA180753	rs_121913250	7 SubmittersRCV000158978 RCV000212761 RCV000442594 RCV000431995 RCV000433097 RCV000421327 RCV000430288 RCV000421993 RCV000427184 RCV000439216 RCV000445150 RCV001066799 RCV001813397 RCV003998247
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile)	SNV Germline/somatic	Chr3:179234286	Pathogenic/Likely pathogenic	Non-small cell lung carcinoma PIK3CA related overgrowth syndrome Breast neoplasm Squamous cell carcinoma of the head and neck Pancreatic adenocarcinoma Neoplasm of the large intestine Adenoid cystic carcinoma Neoplasm of brain Transitional cell carcinoma of the bladder Glioblastoma Thyroid tumor Gastric adenocarcinoma Malignant neoplasm of body of uterus Cowden syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA183868	rs_121913283	6 SubmittersRCV000155959 RCV000201237 RCV000420901 RCV000423694 RCV000426516 RCV000431600 RCV000438783 RCV000430907 RCV000442493 RCV000433967 RCV000441596 RCV000433300 RCV000420209 RCV000699681 RCV001526545 RCV002293423
NM_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_004333.6(BRAF):c.1405G>A (p.Gly469Arg)	SNV Germline/somatic	Chr7:140781603	Pathogenic/Likely pathogenic	Non-small cell lung carcinoma Melanoma Noonan syndrome and Noonan-related syndrome	Criteria Provided Multiple Submitters No Conflicts	CA180746	rs_121913357	3 SubmittersRCV000154398 RCV000433832 RCV001813396
NM_005228.5(EGFR):c.2582T>A (p.Leu861Gln)	SNV Somatic	Chr7:55191831	Pathogenic/Likely pathogenic; drug response	Tyrosine kinase inhibitor response Non-small cell lung carcinoma Squamous cell lung carcinoma Lung adenocarcinoma	No Assertion Criteria Provided	CA176021	rs_121913444	3 SubmittersRCV000150630 RCV000428294 RCV000438538 RCV000420876
NM_004985.5(KRAS):c.290G>A (p.Arg97Lys)	SNV Somatic	Chr12:25227234	Likely pathogenic	Non-small cell lung carcinoma	No Assertion Criteria Provided	CA176487	rs_727503106	1 SubmittersRCV000150887
NM_004985.5(KRAS):c.181C>A (p.Gln61Lys)	SNV Somatic	Chr12:25227343	Pathogenic	Non-small cell lung carcinoma Neoplasm of the large intestine Thyroid tumor	Criteria Provided Single Submitter	CA180750	rs_121913238	2 SubmittersRCV000154402 RCV000440889 RCV000423236
NM_004985.5(KRAS):c.183A>C (p.Gln61His)	SNV Germline/somatic	Chr12:25227341	Conflicting classifications of pathogenicity	Non-small cell lung carcinoma Acute myeloid leukemia Neoplasm of the large intestine Juvenile myelomonocytic leukemia Condition: not provided Cardiovascular phenotype RASopathy	Criteria Provided Conflicting Classifications	CA180922	rs_17851045	6 SubmittersRCV000154530 RCV000424748 RCV000444370 RCV001004043 RCV002056053 RCV002408686 RCV002514970
NM_004985.5(KRAS):c.179G>T (p.Gly60Val)	SNV Germline/somatic	Chr12:25227345	Pathogenic/Likely pathogenic	Non-small cell lung carcinoma Cardio-facio-cutaneous syndrome Noonan syndrome Condition: not provided RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA176493	rs_727503108	4 SubmittersRCV000150889 RCV000157936 RCV000212500 RCV001850055
NM_004985.5(KRAS):c.39C>A (p.Gly13=)	SNV Somatic	Chr12:25245346	Likely pathogenic	Non-small cell lung carcinoma	Criteria Provided Single Submitter	CA176496	rs_397517040	1 SubmittersRCV000150894
NM_004304.5(ALK):c.3522C>A (p.Phe1174Leu)	SNV Somatic	Chr2:29220829	Pathogenic/Likely pathogenic	Neuroblastoma, susceptibility to, 3 Non-small cell lung carcinoma Lung adenocarcinoma Benign Soft Tissue Neoplasm of Uncertain Differentiation Neuroblastoma	No Assertion Criteria Provided	CA279586	rs_863225281	2 SubmittersRCV000201882 RCV000418576 RCV000426846 RCV000435780 RCV000444781
NM_002524.5(NRAS):c.35G>C (p.Gly12Ala)	SNV Germline/somatic	Chr1:114716126	Pathogenic/Likely pathogenic	Myelodysplastic syndrome progressed to acute myeloid leukemia Condition: not provided Acute myeloid leukemia Non-small cell lung carcinoma Multiple myeloma Melanoma Malignant melanoma of skin Myelodysplastic syndrome Gastric adenocarcinoma Malignant neoplasm of body of uterus Neoplasm of the large intestine RASopathy Noonan syndrome and Noonan-related syndrome	Criteria Provided Multiple Submitters No Conflicts	CA280928	rs_121913237	5 SubmittersRCV000203450 RCV000380895 RCV000426950 RCV000427550 RCV000418647 RCV000434113 RCV000444591 RCV000425963 RCV000433455 RCV000437165 RCV000444670 RCV001324275 RCV001813426
NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn)	SNV Germline/somatic	Chr15:66435117	Pathogenic	Cardio-facio-cutaneous syndrome Non-small cell lung carcinoma Melanoma Lung adenocarcinoma Melorheostosis Condition: not provided	Criteria Provided Single Submitter	CA356995	rs_869025608	4 SubmittersRCV000208748 RCV000421288 RCV000438528 RCV000428485 RCV002051691 RCV002254287
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro)	SNV Germline/somatic	Chr1:114713908	Pathogenic	Condition: not provided Nasopharyngeal neoplasm Non-small cell lung carcinoma Neoplasm of the large intestine Malignant neoplasm of body of uterus Glioblastoma Malignant melanoma of skin Melanoma Hepatocellular carcinoma Ovarian serous cystadenocarcinoma Lung adenocarcinoma Papillary renal cell carcinoma type 1 Adrenal cortex carcinoma Multiple myeloma Gastric adenocarcinoma Neoplasm of brain Acute myeloid leukemia B-cell chronic lymphocytic leukemia Transitional cell carcinoma of the bladder Thyroid tumor Noonan syndrome 6	Criteria Provided Single Submitter	CA10602732	rs_11554290	3 SubmittersRCV000291285 RCV000426654 RCV000428903 RCV000430000 RCV000421496 RCV000432170 RCV000427746 RCV000431592 RCV000437545 RCV000439526 RCV000439765 RCV000444660 RCV000419053 RCV000419201 RCV000421291 RCV000434604 RCV000444278 RCV000420302 RCV000437312 RCV000438468 RCV003155143
NM_002524.5(NRAS):c.183A>C (p.Gln61His)	SNV Somatic	Chr1:114713907	Pathogenic/Likely pathogenic	Non-small cell lung carcinoma Acute myeloid leukemia Melanoma	No Assertion Criteria Provided	CA16602358	rs_121913255	1 SubmittersRCV000426637 RCV000436751 RCV000443672
NM_006182.4(DDR2):c.2304T>A (p.Ser768Arg)	SNV Somatic	Chr1:162778600	Pathogenic	Non-small cell lung carcinoma Squamous cell carcinoma	No Assertion Criteria Provided	CA16602365	rs_267598140	1 SubmittersRCV000423026 RCV000437846
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_000222.3(KIT):c.1727T>C (p.Leu576Pro)	SNV Germline/somatic	Chr4:54727495	Pathogenic/Likely pathogenic	Melanoma Gastrointestinal stromal tumor Non-small cell lung carcinoma Thymoma Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16602401	rs_121913513	4 SubmittersRCV000426330 RCV000433543 RCV000426967 RCV000443552 RCV002402118
NM_004985.5(KRAS):c.437C>T (p.Ala146Val)	SNV Germline/somatic	Chr12:25225627	Conflicting classifications of pathogenicity	Non-small cell lung carcinoma Thyroid tumor Neoplasm of the large intestine OCULOECTODERMAL SYNDROME, SOMATIC Encephalocraniocutaneous lipomatosis RASopathy Malignant tumor of urinary bladder Condition: not provided	Criteria Provided Conflicting Classifications	CA16602440	rs_1057519725	6 SubmittersRCV000423608 RCV000434735 RCV000441300 RCV000791299 RCV001839452 RCV002524688 RCV003332167 RCV003488585
NM_033360.4(KRAS):c.38G>C (p.Gly13Ala)	SNV Somatic	Chr12:25245347	Pathogenic	Neoplasm of the large intestine Non-small cell lung carcinoma	No Assertion Criteria Provided	CA16602444	rs_112445441	1 SubmittersRCV000431622 RCV000444986
NM_033360.4(KRAS):c.37G>A (p.Gly13Ser)	SNV Somatic	Chr12:25245348	Pathogenic	Neoplasm of the large intestine Non-small cell lung carcinoma Thyroid tumor	No Assertion Criteria Provided	CA16602445	rs_121913535	1 SubmittersRCV000418407 RCV000429548 RCV000436018
NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro)	SNV Germline/somatic	Chr15:66435113	Pathogenic	Non-small cell lung carcinoma Melanoma Melorheostosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16602453	rs_1057519729	4 SubmittersRCV000418731 RCV000429601 RCV002051704 RCV002254296
NM_005228.5(EGFR):c.2156G>A (p.Gly719Asp)	SNV Somatic	Chr7:55174015	Likely pathogenic	Non-small cell lung carcinoma Squamous cell lung carcinoma Glioblastoma Lung adenocarcinoma	No Assertion Criteria Provided	CA16602537	rs_121913428	1 SubmittersRCV000418583 RCV000420993 RCV000428419 RCV000439067
NM_005228.5(EGFR):c.2198C>T (p.Pro733Leu)	SNV Somatic	Chr7:55174735	Likely pathogenic	Non-small cell lung carcinoma Esophageal squamous cell carcinoma	No Assertion Criteria Provided	CA16602538	rs_121913446	1 SubmittersRCV000428149 RCV000441469
NM_005228.5(EGFR):c.2200G>A (p.Glu734Lys)	SNV Somatic	Chr7:55174737	Likely pathogenic	Non-small cell lung carcinoma	No Assertion Criteria Provided	CA16602539	rs_121913420	1 SubmittersRCV000424211
NM_005228.5(EGFR):c.2203G>A (p.Gly735Ser)	SNV Somatic	Chr7:55174740	Likely pathogenic	Non-small cell lung carcinoma Prostate neoplasm	No Assertion Criteria Provided	CA16602540	rs_121913430	1 SubmittersRCV000434054 RCV000442962
NM_005228.5(EGFR):c.2225T>C (p.Val742Ala)	SNV Somatic	Chr7:55174762	Likely pathogenic	Non-small cell lung carcinoma	No Assertion Criteria Provided	CA16602541	rs_121913466	1 SubmittersRCV000423407
NM_005228.5(EGFR):c.2257C>T (p.Pro753Ser)	SNV Somatic	Chr7:55174794	Likely pathogenic	Non-small cell lung carcinoma Head and neck neoplasm	No Assertion Criteria Provided	CA4266020	rs_121913231	1 SubmittersRCV000436542 RCV000441908
NM_004304.5(ALK):c.3617C>A (p.Ser1206Tyr)	SNV Somatic	Chr2:29220734	Likely pathogenic	Lung adenocarcinoma Non-small cell lung carcinoma	No Assertion Criteria Provided	CA16602591	rs_1057519782	1 SubmittersRCV000422435 RCV000444462
NM_004304.5(ALK):c.3586C>A (p.Leu1196Met)	SNV Somatic	Chr2:29220765	Likely pathogenic	Lung adenocarcinoma Non-small cell lung carcinoma Lung cancer	No Assertion Criteria Provided	CA16602593	rs_1057519784	2 SubmittersRCV000424376 RCV000435601 RCV002282133
NM_004304.5(ALK):c.3455T>G (p.Leu1152Arg)	SNV Somatic	Chr2:29222404	Likely pathogenic	Non-small cell lung carcinoma Lung adenocarcinoma	No Assertion Criteria Provided	CA16602594	rs_1057519785	1 SubmittersRCV000420784 RCV000437564
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_006182.4(DDR2):c.757G>T (p.Gly253Cys)	SNV Somatic	Chr1:162759881	Likely pathogenic	Squamous cell lung carcinoma Non-small cell lung carcinoma	No Assertion Criteria Provided	CA16602599	rs_376303676	1 SubmittersRCV000421258 RCV000441392
NM_006182.4(DDR2):c.1912A>T (p.Ile638Phe)	SNV Somatic	Chr1:162775707	Likely pathogenic	Non-small cell lung carcinoma Squamous cell lung carcinoma	No Assertion Criteria Provided	CA16602600	rs_1057519789	1 SubmittersRCV000430445 RCV000439136
NM_006182.4(DDR2):c.2321G>T (p.Gly774Val)	SNV Somatic	Chr1:162778617	Likely pathogenic	Squamous cell lung carcinoma Non-small cell lung carcinoma	No Assertion Criteria Provided	CA16602601	rs_1057519790	1 SubmittersRCV000421396 RCV000440691
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_005228.5(EGFR):c.2193G>A (p.Trp731Ter)	SNV Somatic	Chr7:55174730	Likely pathogenic	Non-small cell lung carcinoma	No Assertion Criteria Provided	CA16602723	rs_121913467	1 SubmittersRCV000444748
NM_005228.5(EGFR):c.2236G>A (p.Glu746Lys)	SNV Somatic	Chr7:55174773	Likely pathogenic	Non-small cell lung carcinoma	No Assertion Criteria Provided	CA16602724	rs_121913427	1 SubmittersRCV000424472
NM_005228.5(EGFR):c.2255C>A (p.Ser752Tyr)	SNV Somatic	Chr7:55174792	Likely pathogenic	Non-small cell lung carcinoma	No Assertion Criteria Provided	CA16602725	rs_121913464	1 SubmittersRCV000432149
NM_005228.5(EGFR):c.2573T>A (p.Leu858Gln)	SNV Somatic	Chr7:55191822	Likely pathogenic	Non-small cell lung carcinoma	No Assertion Criteria Provided	CA16602729	rs_121434568	1 SubmittersRCV000419082
NM_000455.5(STK11):c.587G>T (p.Gly196Val)	SNV Somatic	Chr19:1220495	Likely pathogenic	Non-small cell lung carcinoma	No Assertion Criteria Provided	CA16602779	rs_1057519858	1 SubmittersRCV000444968
NM_017617.5(NOTCH1):c.6979C>T (p.Arg2327Trp)	SNV Germline/somatic	Chr9:136496760	Conflicting classifications of pathogenicity	Non-small cell lung carcinoma Familial thoracic aortic aneurysm and aortic dissection Adams-Oliver syndrome 5 Aortic valve disease 1	Criteria Provided Conflicting Classifications	CA5339772	rs_751007903	5 SubmittersRCV000420862 RCV002374625 RCV000701504 RCV001198791

NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)

SNV
Germline/somatic

Chr10:87957915

Pathogenic/Likely pathogenic

Cowden syndrome 1
PTEN hamartoma tumor syndrome
Hereditary cancer-predisposing syndrome
Glioblastoma
Macrocephaly-autism syndrome
Breast neoplasm
Neoplasm of the large intestine
Condition: not provided
Cowden syndrome
Non-small cell lung carcinoma
Neoplasm of ovary
Abnormal cardiovascular system morphology
Glioma susceptibility 2
Gastric cancer
PTEN-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA000549

rs_121909219

28 SubmittersRCV000008256 RCV000128455 RCV000162649 RCV000436969 RCV000477737 RCV000427583 RCV000434092 RCV000212882 RCV000678740 RCV000444248 RCV000785383 RCV001327980 RCV003466836 RCV003162216 RCV004532309

NM_004985.5(KRAS):c.34G>T (p.Gly12Cys)

SNV
Germline/somatic

Chr12:25245351

Likely pathogenic

Non-small cell lung carcinoma
Lung carcinoma
Lung adenocarcinoma
Neoplasm of the large intestine
Endometrial carcinoma
Thyroid tumor
Neoplasm of ovary
Gallbladder cancer
RASopathy
Condition: not provided
Lung cancer

Criteria Provided
Single Submitter

CA122528

rs_121913530

9 SubmittersRCV000038265 RCV000013406 RCV000431049 RCV000435281 RCV000119791 RCV000418063 RCV000420450 RCV001292543 RCV003654176 RCV001355787 RCV003996092

NM_004985.5(KRAS):c.34G>C (p.Gly12Arg)

SNV
Germline/somatic

Chr12:25245351

Pathogenic/Likely pathogenic

Malignant tumor of urinary bladder
Squamous cell lung carcinoma
Non-small cell lung carcinoma
Thyroid tumor
Neoplasm of ovary
Neoplasm of the large intestine
Condition: not provided
Adenoid cystic carcinoma
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA122531

rs_121913530

7 SubmittersRCV000013408 RCV000013407 RCV000154401 RCV000422773 RCV000433472 RCV000441777 RCV001356365 RCV000585776 RCV002513010

NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)

SNV
Germline/somatic

Chr12:25245347

Conflicting classifications of pathogenicity

Breast adenocarcinoma
Non-small cell lung carcinoma
Juvenile myelomonocytic leukemia
Autoimmune lymphoproliferative syndrome type 4
Acute myeloid leukemia
Neoplasm of the large intestine
Neoplasm of ovary
Thyroid tumor
Condition: not provided
Inborn genetic diseases
Nevus sebaceous
OCULOECTODERMAL SYNDROME, SOMATIC
Noonan syndrome and Noonan-related syndrome
Encephalocraniocutaneous lipomatosis
RASopathy
KRAS-related disorder

Criteria Provided
Conflicting Classifications

CA122534

rs_112445441

14 SubmittersRCV000013409 RCV000038269 RCV000144967 RCV000144968 RCV000431806 RCV000421576 RCV000444192 RCV000427102 RCV001092389 RCV001266168 RCV001526657 RCV000791297 RCV001813183 RCV001839444 RCV001857340 RCV004549358

NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)

SNV
Germline/somatic

Chr12:25245350

Pathogenic/Likely pathogenic

Carcinoma of pancreas
Epidermal nevus
Nevus sebaceous
Linear nevus sebaceous syndrome
Juvenile myelomonocytic leukemia
Autoimmune lymphoproliferative syndrome type 4
Non-small cell lung carcinoma
Neoplasm of ovary
Condition: not provided
Acute myeloid leukemia
Lung carcinoma
Thyroid tumor
RASopathy
Cerebral arteriovenous malformation
Vascular Tumors Including Pyogenic Granuloma
Neoplasm of the large intestine
Primary low grade serous adenocarcinoma of ovary
Encephalocraniocutaneous lipomatosis
Capillary malformation-arteriovenous malformation 1
Congenital Pulmonary Airway Malformations
Gastric cancer
Atypical endometrial hyperplasia
Endometrial hyperplasia without atypia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA122538

rs_121913529

22 SubmittersRCV000013411 RCV000022799 RCV000029214 RCV000029215 RCV000144969 RCV000144970 RCV000150896 RCV000150897 RCV000272938 RCV000433573 RCV000425250 RCV000443973 RCV000548006 RCV000585796 RCV000662266 RCV000426369 RCV000856666 RCV001839445 RCV001799604 RCV004554600 RCV002508117 RCV003327361 RCV004018620

NM_004985.5(KRAS):c.35G>T (p.Gly12Val)

SNV
Germline/somatic

Chr12:25245350

Pathogenic

Nevus sebaceous
Carcinoma of pancreas
Juvenile myelomonocytic leukemia
Non-small cell lung carcinoma
Thyroid tumor
Acute myeloid leukemia
Condition: not provided
Neoplasm of ovary
Neoplasm of the large intestine
Cerebral arteriovenous malformation
Chronic myelogenous leukemia, BCR-ABL1 positive
Linear nevus sebaceous syndrome
Lung sarcomatoid carcinoma
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA122540

rs_121913529

12 SubmittersRCV000029216 RCV000013413 RCV000150895 RCV000154262 RCV000417765 RCV000439750 RCV000157944 RCV000428010 RCV000439101 RCV000585801 RCV002291496 RCV003455987 RCV003322589 RCV003539760

NM_004985.5(KRAS):c.34G>A (p.Gly12Ser)

SNV
Germline/somatic

Chr12:25245351

Pathogenic

Non-small cell lung carcinoma
Gastric cancer
Juvenile myelomonocytic leukemia
Neoplasm of ovary
Thyroid tumor
Neoplasm of the large intestine
RASopathy
Condition: not provided
Vascular malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA135565

rs_121913530

10 SubmittersRCV000038264 RCV000013414 RCV000144971 RCV000119790 RCV000432392 RCV000445081 RCV001851824 RCV000782191 RCV004562205

NM_004985.5(KRAS):c.37G>C (p.Gly13Arg)

SNV
Somatic

Chr12:25245348

Pathogenic

Pilocytic astrocytoma
Non-small cell lung carcinoma
Neoplasm of the large intestine
Thyroid tumor
Condition: not provided

Criteria Provided
Single Submitter

CA122542

rs_121913535

4 SubmittersRCV000013424 RCV000038267 RCV000426673 RCV000436657 RCV001357137

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_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_004333.6(BRAF):c.1801A>G (p.Lys601Glu)

SNV
Somatic

Chr7:140753334

Pathogenic

Thyroid cancer, nonmedullary, 2
Carcinoma of colon
Non-small cell lung carcinoma
Gastric adenocarcinoma
B-cell chronic lymphocytic leukemia
Lung adenocarcinoma
Neoplasm
Malignant neoplasm of body of uterus
Malignant melanoma of skin
Thyroid tumor
Melanoma
Prostate adenocarcinoma

Criteria Provided
Single Submitter

CA123645

rs_121913364

4 SubmittersRCV000015000 RCV000014999 RCV000037938 RCV000423181 RCV000440232 RCV000433498 RCV000443528 RCV000422559 RCV000425399 RCV000432202 RCV000440872 RCV000432849

NM_004333.6(BRAF):c.1397G>T (p.Gly466Val)

SNV
Somatic

Chr7:140781611

Pathogenic/Likely pathogenic

Lung adenocarcinoma
Non-small cell lung carcinoma
Multiple myeloma
Malignant melanoma of skin
Neoplasm of the large intestine
Lung carcinoma
Squamous cell lung carcinoma
Squamous cell carcinoma of the head and neck

No Assertion Criteria Provided

CA123647

rs_121913351

3 SubmittersRCV000015001 RCV000037916 RCV000421693 RCV000424032 RCV000429151 RCV000436576 RCV000438953 RCV000438708

NM_004333.6(BRAF):c.1789C>G (p.Leu597Val)

SNV
Germline/somatic

Chr7:140753346

Pathogenic

Non-small cell lung carcinoma
Noonan syndrome 7
Noonan syndrome
Cardio-facio-cutaneous syndrome
Melanoma
Lung carcinoma
Noonan syndrome 1
Neoplasm
Condition: not provided
Noonan syndrome and Noonan-related syndrome
Cardio-facio-cutaneous syndrome
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA123651

rs_121913369

12 SubmittersRCV000015003 RCV000030948 RCV000033333 RCV000426915 RCV000419516 RCV000208539 RCV000437189 RCV000505705 RCV001813207 RCV002271369 RCV002513056

NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala)

SNV
Somatic

Chr7:140781602

Pathogenic

Non-Hodgkin lymphoma
Non-small cell lung carcinoma
Neoplasm of the large intestine
Squamous cell carcinoma of the skin
Neoplasm
Lung adenocarcinoma
Malignant melanoma of skin
Squamous cell lung carcinoma
Prostate adenocarcinoma
Multiple myeloma
Lung carcinoma
Transitional cell carcinoma of the bladder

Criteria Provided
Single Submitter

CA123655

rs_121913355

3 SubmittersRCV000015005 RCV000150210 RCV000419278 RCV000422572 RCV000421485 RCV000430006 RCV000432193 RCV000432393 RCV000439564 RCV000444131 RCV000440864 RCV000439801

NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly)

SNV
Germline/somatic

Chr7:140753354

Conflicting classifications of pathogenicity

Non-Hodgkin lymphoma
Non-small cell lung carcinoma
B-cell chronic lymphocytic leukemia
Malignant melanoma of skin
Lung adenocarcinoma
Adrenal cortex carcinoma
Transitional cell carcinoma of the bladder
Melanoma
Squamous cell carcinoma of the head and neck
Neoplasm of brain
Neoplasm of the large intestine
RASopathy
Multiple myeloma

Criteria Provided
Conflicting Classifications

CA123657

rs_121913338

5 SubmittersRCV000015006 RCV000037932 RCV000418680 RCV000423919 RCV000426107 RCV000433779 RCV000437006 RCV000426339 RCV000435875 RCV000443065 RCV000443882 RCV001238853 RCV000442759

NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys)

SNV
Germline/somatic

Chr14:104780214

Pathogenic

Breast adenocarcinoma
Carcinoma of colon
Neoplasm of ovary
Proteus syndrome
Breast neoplasm
Non-small cell lung carcinoma
Neoplasm of uterine cervix
Squamous cell lung carcinoma
Transitional cell carcinoma of the bladder
Hepatocellular carcinoma
Prostate adenocarcinoma
Small cell lung carcinoma
Gastric adenocarcinoma
Malignant melanoma of skin
Neoplasm of the large intestine
Squamous cell carcinoma of the head and neck
Tumor of meninges
Thyroid tumor
Bone osteosarcoma
Prostate neoplasm
Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation
Lung adenocarcinoma
Cowden syndrome 6
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA123660

rs_121434592

6 SubmittersRCV000015017 RCV000015018 RCV000015019 RCV000031926 RCV000430173 RCV000436698 RCV000438154 RCV000440828 RCV000443761 RCV000444311 RCV000419412 RCV000421850 RCV000427484 RCV000426386 RCV000429060 RCV000439982 RCV000434120 RCV000421009 RCV000421696 RCV000445271 RCV000431237 RCV000431723 RCV000795313 RCV001813745

NM_002198.3(IRF1):c.31T>C (p.Trp11Arg)

SNV
Somatic

Chr5:132489448

Pathogenic

Non-small cell lung carcinoma

No Assertion Criteria Provided

CA124285

rs_121912470

1 SubmittersRCV000015841

NM_005228.5(EGFR):c.2155G>T (p.Gly719Cys)

SNV
Somatic

Chr7:55174014

Pathogenic/Likely pathogenic; drug response

Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic
Non-small cell lung carcinoma
Glioblastoma
Lung adenocarcinoma

No Assertion Criteria Provided

CA126719

rs_28929495

3 SubmittersRCV000018086 RCV000038380 RCV000426731 RCV000433465

NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)

SNV
Germline/somatic

Chr3:179218294

Pathogenic

CLOVES syndrome
Neoplasm of ovary
Non-small cell lung carcinoma
Condition: not provided
Small cell lung carcinoma
Neoplasm of the large intestine
Squamous cell lung carcinoma
Transitional cell carcinoma of the bladder
Lung adenocarcinoma
Breast neoplasm
Carcinoma of esophagus
Malignant neoplasm of body of uterus
Gastric adenocarcinoma
Prostate adenocarcinoma
Neoplasm of brain
Glioblastoma
Squamous cell carcinoma of the head and neck
Neoplasm of uterine cervix
Papillary renal cell carcinoma, sporadic
Hepatocellular carcinoma
CLAPO syndrome
Lip and oral cavity carcinoma
CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC
Abnormal cardiovascular system morphology
Cerebrofacial Vascular Metameric Syndrome (CVMS)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Cowden syndrome
PIK3CA-related overgrowth
PIK3CA-related disorder
PIK3CA related overgrowth syndrome
HEMIFACIAL MYOHYPERPLASIA, SOMATIC
Rare venous malformation

Reviewed By Expert Panel

CA333572

rs_121913273

17 SubmittersRCV000024622 RCV000151649 RCV000154513 RCV000416776 RCV000431000 RCV000431872 RCV000436932 RCV000438815 RCV000441707 RCV000442348 RCV000419905 RCV000420078 RCV000419440 RCV000426691 RCV000421639 RCV000433007 RCV000425548 RCV000430763 RCV000435811 RCV000445059 RCV000709693 RCV001255687 RCV001728093 RCV001327962 RCV001730477 RCV001836714 RCV002513230 RCV003987334 RCV004532404 RCV003458190 RCV003764635 RCV004527296

NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)

SNV
Germline/somatic

Chr1:114716126

Pathogenic/Likely pathogenic

Epidermal nevus
Juvenile myelomonocytic leukemia
Condition: not provided
Non-small cell lung carcinoma
Malignant melanoma of skin
Myelodysplastic syndrome
Neoplasm of the large intestine
Gastric adenocarcinoma
Malignant neoplasm of body of uterus
Multiple myeloma
Melanoma
Acute myeloid leukemia
NRAS-related disorder
Cardiovascular phenotype
RASopathy
Noonan syndrome 6
Noonan syndrome and Noonan-related syndrome
Autoimmune lymphoproliferative syndrome type 4

Criteria Provided
Multiple Submitters
No Conflicts

CA130425

rs_121913237

10 SubmittersRCV000032849 RCV000144963 RCV000158980 RCV000439064 RCV000440963 RCV000424239 RCV000427949 RCV000434517 RCV000430706 RCV000417702 RCV000417869 RCV000436228 RCV003415756 RCV004018703 RCV001852659 RCV001781333 RCV001813214 RCV003221788

NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)

SNV
Germline/somatic

Chr3:179234296

Pathogenic

Megalencephaly-capillary malformation-polymicrogyria syndrome
Non-small cell lung carcinoma
Gastric adenocarcinoma
Lung adenocarcinoma
Ovarian serous cystadenocarcinoma
Neoplasm of the large intestine
Adrenal cortex carcinoma
Malignant neoplasm of body of uterus
Squamous cell lung carcinoma
Malignant melanoma of skin
Brainstem glioma
Squamous cell carcinoma of the head and neck
Pancreatic adenocarcinoma
Hepatocellular carcinoma
Malignant tumor of floor of mouth
Glioblastoma
Transitional cell carcinoma of the bladder
Cowden syndrome
Medulloblastoma
Prostate adenocarcinoma
Neoplasm of brain
Carcinoma of esophagus
Uterine carcinosarcoma
Neoplasm of uterine cervix
Breast neoplasm
Papillary renal cell carcinoma type 1
13 conditions
Condition: not provided
Segmental undergrowth associated with mainly venous malformation with capillary component
CLOVES syndrome
PIK3CA related overgrowth syndrome
HEMIFACIAL MYOHYPERPLASIA, SOMATIC

Criteria Provided
Multiple Submitters
No Conflicts

CA130471

rs_121913281

13 SubmittersRCV000032909 RCV000038675 RCV000425119 RCV000432323 RCV000436090 RCV000441963 RCV000444680 RCV000423369 RCV000425540 RCV000425809 RCV000435399 RCV000440398 RCV000441716 RCV000418438 RCV000420550 RCV000428005 RCV000435124 RCV000698423 RCV000417782 RCV000422744 RCV000424877 RCV000430750 RCV000432906 RCV000433635 RCV000441028 RCV000442782 RCV000763508 RCV001092441 RCV001705625 RCV002226661 RCV003233079 RCV003882732

NM_004333.6(BRAF):c.1391G>T (p.Gly464Val)

SNV
Germline/somatic

Chr7:140781617

Pathogenic/Likely pathogenic

RASopathy
Non-small cell lung carcinoma
Breast neoplasm
Neoplasm
Condition: not provided
Noonan syndrome and Noonan-related syndrome
Cardiofaciocutaneous syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA135076

rs_121913348

6 SubmittersRCV000033302 RCV000037914 RCV000426199 RCV000442182 RCV001811232 RCV001813221 RCV002250499

NM_005343.4(HRAS):c.175G>A (p.Ala59Thr)

SNV
Germline

Chr11:533881

Likely pathogenic

Non-small cell lung carcinoma
Costello syndrome

Reviewed By Expert Panel

CA176353

rs_727503093

4 SubmittersRCV000150834 RCV000150835

NM_002524.5(NRAS):c.34G>T (p.Gly12Cys)

SNV
Germline/somatic

Chr1:114716127

Pathogenic

Condition: not provided
Malignant neoplasm of body of uterus
Neoplasm of the large intestine
Multiple myeloma
Acute myeloid leukemia
Non-small cell lung carcinoma
Malignant melanoma of skin
Melanoma
Gastric adenocarcinoma
Myelodysplastic syndrome
Chronic myelogenous leukemia, BCR-ABL1 positive

Criteria Provided
Single Submitter

CA297020

rs_121913250

3 SubmittersRCV000158979 RCV000422059 RCV000422738 RCV000425805 RCV000433830 RCV000440380 RCV000435186 RCV000444830 RCV000432311 RCV000445013 RCV002291497

NM_002524.5(NRAS):c.34G>C (p.Gly12Arg)

SNV
Germline/somatic

Chr1:114716127

Pathogenic

Condition: not provided
Multiple myeloma
Acute myeloid leukemia
Chronic myelogenous leukemia, BCR-ABL1 positive
Neoplasm of the large intestine
Non-small cell lung carcinoma
Malignant melanoma of skin
Malignant neoplasm of body of uterus
Myelodysplastic syndrome
Gastric adenocarcinoma
Melanoma
Noonan syndrome 6
Increased nuchal translucency

Criteria Provided
Multiple Submitters
No Conflicts

CA297030

rs_121913250

6 SubmittersRCV000158985 RCV000420396 RCV000423088 RCV000430635 RCV000435447 RCV000425150 RCV000430032 RCV000438291 RCV000440262 RCV000420637 RCV000444217 RCV001781335 RCV001526619

NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)

SNV
Germline/somatic

Chr15:66435145

Pathogenic

RASopathy
Condition: not provided
Cardio-facio-cutaneous syndrome
Cardiofaciocutaneous syndrome 3
Melanoma
Non-small cell lung carcinoma
Autism spectrum disorder
Noonan syndrome
Cardio-facio-cutaneous syndrome
MAP2K1-related RASopathy
Cardiovascular phenotype
Melorheostosis
Cardiofaciocutaneous syndrome 3

Reviewed By Expert Panel

CA180743

rs_727504317

16 SubmittersRCV000158004 RCV000212506 RCV000208771 RCV000192193 RCV000423708 RCV000439184 RCV000754677 RCV000844673 RCV001095724 RCV002415455 RCV003224114

NM_004333.6(BRAF):c.1396G>A (p.Gly466Arg)

SNV
Somatic

Chr7:140781612

Pathogenic/Likely pathogenic

Non-small cell lung carcinoma
Neoplasm of ovary
Vascular malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA135079

rs_121913353

3 SubmittersRCV000037915 RCV000428876 RCV004562228

NM_004333.6(BRAF):c.1406G>T (p.Gly469Val)

SNV
Somatic

Chr7:140781602

Pathogenic

Non-small cell lung carcinoma
Prostate adenocarcinoma
Squamous cell carcinoma of the skin
Multiple myeloma
Lung adenocarcinoma
Neoplasm of the large intestine
Squamous cell lung carcinoma
Neoplasm
Transitional cell carcinoma of the bladder
Malignant melanoma of skin

Criteria Provided
Single Submitter

CA135085

rs_121913355

2 SubmittersRCV000037919 RCV000425868 RCV000436583 RCV000418480 RCV000427987 RCV000420102 RCV000445054 RCV000430773 RCV000435417 RCV000436805

NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn)

SNV
Germline/somatic

Chr7:140753355

Likely pathogenic

Non-small cell lung carcinoma
Transitional cell carcinoma of the bladder
Neoplasm of the large intestine
Malignant melanoma of skin
Multiple myeloma
Melanoma
Lung adenocarcinoma
B-cell chronic lymphocytic leukemia
Neoplasm of brain
Squamous cell carcinoma of the head and neck
Adrenal cortex carcinoma
Prostate cancer, hereditary, 1

Criteria Provided
Single Submitter

CA135095

rs_397516896

4 SubmittersRCV000037931 RCV000417722 RCV000425110 RCV000432782 RCV000432575 RCV000440132 RCV000443573 RCV000422928 RCV000425325 RCV000434944 RCV000444338 RCV002291550

NM_004333.6(BRAF):c.1798G>A (p.Val600Met)

SNV
Somatic

Chr7:140753337

Likely pathogenic

Non-small cell lung carcinoma
Melanoma
Condition: not provided

Criteria Provided
Single Submitter

CA135101

rs_121913378

3 SubmittersRCV000037934 RCV000429286 RCV001357636

NM_004333.6(BRAF):c.1798G>T (p.Val600Leu)

SNV
Somatic

Chr7:140753337

Likely pathogenic

Non-small cell lung carcinoma
Melanoma
Myoepithelial tumor

Criteria Provided
Single Submitter

CA135104

rs_121913378

3 SubmittersRCV000037935 RCV000435048 RCV002463625

NM_004985.5(KRAS):c.182A>G (p.Gln61Arg)

SNV
Germline/somatic

Chr12:25227342

Conflicting classifications of pathogenicity

Noonan syndrome
Neoplasm of the large intestine
Non-small cell lung carcinoma
Thyroid tumor
RASopathy
Noonan syndrome and Noonan-related syndrome
Lung cancer

Criteria Provided
Conflicting Classifications

CA261702

rs_121913240

5 SubmittersRCV000038257 RCV000420152 RCV000431260 RCV000438012 RCV001209740 RCV001813342 RCV003996395

NM_004985.5(KRAS):c.182A>T (p.Gln61Leu)

SNV
Somatic

Chr12:25227342

Pathogenic

Non-small cell lung carcinoma
Medullary thyroid carcinoma
Thyroid tumor
Neoplasm of the large intestine
Multiple myeloma

Criteria Provided
Single Submitter

CA210876

rs_121913240

4 SubmittersRCV000038258 RCV000202407 RCV000437806 RCV000443593 RCV000984128

NM_004985.5(KRAS):c.183A>T (p.Gln61His)

SNV
Somatic

Chr12:25227341

Pathogenic/Likely pathogenic

Non-small cell lung carcinoma
Neoplasm of the large intestine
Malignant melanoma of skin
Thyroid tumor
Malignant neoplasm of body of uterus
Hepatocellular carcinoma
Gastric adenocarcinoma
Lung adenocarcinoma
B-cell chronic lymphocytic leukemia
Transitional cell carcinoma of the bladder
Pancreatic adenocarcinoma
Squamous cell lung carcinoma
Multiple myeloma
Acute myeloid leukemia
Cerebral arteriovenous malformation

No Assertion Criteria Provided

CA135552

rs_17851045

3 SubmittersRCV000038259 RCV000417543 RCV000421965 RCV000423952 RCV000430651 RCV000433564 RCV000441804 RCV000420404 RCV000433108 RCV000440092 RCV000445124 RCV000423293 RCV000429878 RCV000435442 RCV003445113

NM_004985.5(KRAS):c.35G>C (p.Gly12Ala)

SNV
Germline/somatic

Chr12:25245350

Likely pathogenic

Non-small cell lung carcinoma
Lung adenocarcinoma
Gastrointestinal stromal tumor
Neoplasm of the large intestine
Neoplasm of ovary
Multiple myeloma
Condition: not provided
Gallbladder cancer
Lung cancer
KRAS-related disorder

Criteria Provided
Single Submitter

CA135567

rs_121913529

7 SubmittersRCV000038266 RCV000423968 RCV000441134 RCV000434342 RCV000443636 RCV000984117 RCV001355876 RCV001374446 RCV003996396 RCV004549454

NM_004985.5(KRAS):c.37G>T (p.Gly13Cys)

SNV
Germline/somatic

Chr12:25245348

Pathogenic/Likely pathogenic

Non-small cell lung carcinoma
Autoimmune lymphoproliferative syndrome type 4
Neoplasm of the large intestine
Condition: not provided
KRAS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA135570

rs_121913535

9 SubmittersRCV000038268 RCV000144972 RCV000443868 RCV000681039 RCV003335071

NM_004985.5(KRAS):c.38G>T (p.Gly13Val)

SNV
Somatic

Chr12:25245347

Pathogenic

Non-small cell lung carcinoma
Neoplasm of the large intestine
Thyroid tumor
Condition: not provided

Criteria Provided
Single Submitter

CA135573

rs_112445441

3 SubmittersRCV000038270 RCV000439931 RCV000422238 RCV001355269

NM_004985.5(KRAS):c.39C>T (p.Gly13=)

SNV
Germline/somatic

Chr12:25245346

Likely pathogenic

Non-small cell lung carcinoma
Condition: not provided
Prostate cancer, hereditary, 1

Criteria Provided
Single Submitter

CA135576

rs_397517040

3 SubmittersRCV000038271 RCV001357774 RCV002291551

NM_005228.5(EGFR):c.2155G>C (p.Gly719Arg)

SNV
Somatic

Chr7:55174014

Likely pathogenic; drug response

Non-small cell lung carcinoma
Squamous cell carcinoma of the head and neck

No Assertion Criteria Provided

CA135772

rs_28929495

2 SubmittersRCV000038379 RCV000114405

NM_005228.5(EGFR):c.2156G>C (p.Gly719Ala)

SNV
Germline/somatic

Chr7:55174015

Pathogenic

Non-small cell lung carcinoma
Glioblastoma
Lung adenocarcinoma

Criteria Provided
Single Submitter

CA135775

rs_121913428

3 SubmittersRCV000038381 RCV000426037 RCV000436293

NM_005228.5(EGFR):c.2248G>C (p.Ala750Pro)

SNV
Somatic

Chr7:55174785

Conflicting classifications of pathogenicity

not specified
Non-small cell lung carcinoma
Lung adenocarcinoma

No Assertion Criteria Provided

CA135812

rs_121913229

2 SubmittersRCV000038395 RCV000425827 RCV000442888

NM_005228.5(EGFR):c.2281G>T (p.Asp761Tyr)

SNV
Somatic

Chr7:55174818

Conflicting classifications of pathogenicity

not specified
Non-small cell lung carcinoma

No Assertion Criteria Provided

CA135827

rs_121913418

2 SubmittersRCV000038400 RCV000435465

NM_005228.5(EGFR):c.2303G>T (p.Ser768Ile)

SNV
Germline/somatic

Chr7:55181312

Pathogenic

Non-small cell lung carcinoma
Squamous cell lung carcinoma
Carcinoma of esophagus

Criteria Provided
Single Submitter

CA135840

rs_121913465

3 SubmittersRCV000038407 RCV000435248 RCV000428042

NM_005228.5(EGFR):c.2500G>T (p.Val834Leu)

SNV
Somatic

Chr7:55191749

Pathogenic

Non-small cell lung carcinoma
Lung adenocarcinoma

Criteria Provided
Single Submitter

CA135920

rs_397517127

2 SubmittersRCV000038435 RCV003996408

NM_006218.4(PIK3CA):c.3073A>G (p.Thr1025Ala)

SNV
Germline/somatic

Chr3:179234230

Pathogenic/Likely pathogenic

Non-small cell lung carcinoma
CLOVES syndrome
Condition: not provided
PIK3CA related overgrowth syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA136374

rs_397517202

5 SubmittersRCV000038673 RCV001526503 RCV002254274 RCV003458194

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_002524.5(NRAS):c.34G>A (p.Gly12Ser)

SNV
Germline/somatic

Chr1:114716127

Pathogenic

Juvenile myelomonocytic leukemia
Noonan syndrome
Condition: not provided
Gastric adenocarcinoma
Melanoma
Multiple myeloma
Non-small cell lung carcinoma
Myelodysplastic syndrome
Malignant melanoma of skin
Malignant neoplasm of body of uterus
Neoplasm of the large intestine
Acute myeloid leukemia
RASopathy
Noonan syndrome and Noonan-related syndrome
Noonan syndrome 6

Criteria Provided
Multiple Submitters
No Conflicts

CA180753

rs_121913250

7 SubmittersRCV000158978 RCV000212761 RCV000442594 RCV000431995 RCV000433097 RCV000421327 RCV000430288 RCV000421993 RCV000427184 RCV000439216 RCV000445150 RCV001066799 RCV001813397 RCV003998247

NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile)

SNV
Germline/somatic

Chr3:179234286

Pathogenic/Likely pathogenic

Non-small cell lung carcinoma
PIK3CA related overgrowth syndrome
Breast neoplasm
Squamous cell carcinoma of the head and neck
Pancreatic adenocarcinoma
Neoplasm of the large intestine
Adenoid cystic carcinoma
Neoplasm of brain
Transitional cell carcinoma of the bladder
Glioblastoma
Thyroid tumor
Gastric adenocarcinoma
Malignant neoplasm of body of uterus
Cowden syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA183868

rs_121913283

6 SubmittersRCV000155959 RCV000201237 RCV000420901 RCV000423694 RCV000426516 RCV000431600 RCV000438783 RCV000430907 RCV000442493 RCV000433967 RCV000441596 RCV000433300 RCV000420209 RCV000699681 RCV001526545 RCV002293423

NM_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_004333.6(BRAF):c.1405G>A (p.Gly469Arg)

SNV
Germline/somatic

Chr7:140781603

Pathogenic/Likely pathogenic

Non-small cell lung carcinoma
Melanoma
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA180746

rs_121913357

3 SubmittersRCV000154398 RCV000433832 RCV001813396

NM_005228.5(EGFR):c.2582T>A (p.Leu861Gln)

SNV
Somatic

Chr7:55191831

Pathogenic/Likely pathogenic; drug response

Tyrosine kinase inhibitor response
Non-small cell lung carcinoma
Squamous cell lung carcinoma
Lung adenocarcinoma

No Assertion Criteria Provided

CA176021

rs_121913444

3 SubmittersRCV000150630 RCV000428294 RCV000438538 RCV000420876

NM_004985.5(KRAS):c.290G>A (p.Arg97Lys)

SNV
Somatic

Chr12:25227234

Likely pathogenic

Non-small cell lung carcinoma

No Assertion Criteria Provided

CA176487

rs_727503106

1 SubmittersRCV000150887

NM_004985.5(KRAS):c.181C>A (p.Gln61Lys)

SNV
Somatic

Chr12:25227343

Pathogenic

Non-small cell lung carcinoma
Neoplasm of the large intestine
Thyroid tumor

Criteria Provided
Single Submitter

CA180750

rs_121913238

2 SubmittersRCV000154402 RCV000440889 RCV000423236

NM_004985.5(KRAS):c.183A>C (p.Gln61His)

SNV
Germline/somatic

Chr12:25227341

Conflicting classifications of pathogenicity

Non-small cell lung carcinoma
Acute myeloid leukemia
Neoplasm of the large intestine
Juvenile myelomonocytic leukemia
Condition: not provided
Cardiovascular phenotype
RASopathy

Criteria Provided
Conflicting Classifications

CA180922

rs_17851045

6 SubmittersRCV000154530 RCV000424748 RCV000444370 RCV001004043 RCV002056053 RCV002408686 RCV002514970

NM_004985.5(KRAS):c.179G>T (p.Gly60Val)

SNV
Germline/somatic

Chr12:25227345

Pathogenic/Likely pathogenic

Non-small cell lung carcinoma
Cardio-facio-cutaneous syndrome
Noonan syndrome
Condition: not provided
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA176493

rs_727503108

4 SubmittersRCV000150889 RCV000157936 RCV000212500 RCV001850055

NM_004985.5(KRAS):c.39C>A (p.Gly13=)

SNV
Somatic

Chr12:25245346

Likely pathogenic

Non-small cell lung carcinoma

Criteria Provided
Single Submitter

CA176496

rs_397517040

1 SubmittersRCV000150894

NM_004304.5(ALK):c.3522C>A (p.Phe1174Leu)

SNV
Somatic

Chr2:29220829

Pathogenic/Likely pathogenic

Neuroblastoma, susceptibility to, 3
Non-small cell lung carcinoma
Lung adenocarcinoma
Benign Soft Tissue Neoplasm of Uncertain Differentiation
Neuroblastoma

No Assertion Criteria Provided

CA279586

rs_863225281

2 SubmittersRCV000201882 RCV000418576 RCV000426846 RCV000435780 RCV000444781

NM_002524.5(NRAS):c.35G>C (p.Gly12Ala)

SNV
Germline/somatic

Chr1:114716126

Pathogenic/Likely pathogenic

Myelodysplastic syndrome progressed to acute myeloid leukemia
Condition: not provided
Acute myeloid leukemia
Non-small cell lung carcinoma
Multiple myeloma
Melanoma
Malignant melanoma of skin
Myelodysplastic syndrome
Gastric adenocarcinoma
Malignant neoplasm of body of uterus
Neoplasm of the large intestine
RASopathy
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA280928

rs_121913237

5 SubmittersRCV000203450 RCV000380895 RCV000426950 RCV000427550 RCV000418647 RCV000434113 RCV000444591 RCV000425963 RCV000433455 RCV000437165 RCV000444670 RCV001324275 RCV001813426

NM_002755.4(MAP2K1):c.171G>T (p.Lys57Asn)

SNV
Germline/somatic

Chr15:66435117

Pathogenic

Cardio-facio-cutaneous syndrome
Non-small cell lung carcinoma
Melanoma
Lung adenocarcinoma
Melorheostosis
Condition: not provided

Criteria Provided
Single Submitter

CA356995

rs_869025608

4 SubmittersRCV000208748 RCV000421288 RCV000438528 RCV000428485 RCV002051691 RCV002254287

NM_002524.5(NRAS):c.182A>C (p.Gln61Pro)

SNV
Germline/somatic

Chr1:114713908

Pathogenic

Condition: not provided
Nasopharyngeal neoplasm
Non-small cell lung carcinoma
Neoplasm of the large intestine
Malignant neoplasm of body of uterus
Glioblastoma
Malignant melanoma of skin
Melanoma
Hepatocellular carcinoma
Ovarian serous cystadenocarcinoma
Lung adenocarcinoma
Papillary renal cell carcinoma type 1
Adrenal cortex carcinoma
Multiple myeloma
Gastric adenocarcinoma
Neoplasm of brain
Acute myeloid leukemia
B-cell chronic lymphocytic leukemia
Transitional cell carcinoma of the bladder
Thyroid tumor
Noonan syndrome 6

Criteria Provided
Single Submitter

CA10602732

rs_11554290

3 SubmittersRCV000291285 RCV000426654 RCV000428903 RCV000430000 RCV000421496 RCV000432170 RCV000427746 RCV000431592 RCV000437545 RCV000439526 RCV000439765 RCV000444660 RCV000419053 RCV000419201 RCV000421291 RCV000434604 RCV000444278 RCV000420302 RCV000437312 RCV000438468 RCV003155143

NM_002524.5(NRAS):c.183A>C (p.Gln61His)

SNV
Somatic

Chr1:114713907

Pathogenic/Likely pathogenic

Non-small cell lung carcinoma
Acute myeloid leukemia
Melanoma

No Assertion Criteria Provided

CA16602358

rs_121913255

1 SubmittersRCV000426637 RCV000436751 RCV000443672

NM_006182.4(DDR2):c.2304T>A (p.Ser768Arg)

SNV
Somatic

Chr1:162778600

Pathogenic

Non-small cell lung carcinoma
Squamous cell carcinoma

No Assertion Criteria Provided

CA16602365

rs_267598140

1 SubmittersRCV000423026 RCV000437846

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_000222.3(KIT):c.1727T>C (p.Leu576Pro)

SNV
Germline/somatic

Chr4:54727495

Pathogenic/Likely pathogenic

Melanoma
Gastrointestinal stromal tumor
Non-small cell lung carcinoma
Thymoma
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16602401

rs_121913513

4 SubmittersRCV000426330 RCV000433543 RCV000426967 RCV000443552 RCV002402118

NM_004985.5(KRAS):c.437C>T (p.Ala146Val)

SNV
Germline/somatic

Chr12:25225627

Conflicting classifications of pathogenicity

Non-small cell lung carcinoma
Thyroid tumor
Neoplasm of the large intestine
OCULOECTODERMAL SYNDROME, SOMATIC
Encephalocraniocutaneous lipomatosis
RASopathy
Malignant tumor of urinary bladder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16602440

rs_1057519725

6 SubmittersRCV000423608 RCV000434735 RCV000441300 RCV000791299 RCV001839452 RCV002524688 RCV003332167 RCV003488585

NM_033360.4(KRAS):c.38G>C (p.Gly13Ala)

SNV
Somatic

Chr12:25245347

Pathogenic

Neoplasm of the large intestine
Non-small cell lung carcinoma

No Assertion Criteria Provided

CA16602444

rs_112445441

1 SubmittersRCV000431622 RCV000444986

NM_033360.4(KRAS):c.37G>A (p.Gly13Ser)

SNV
Somatic

Chr12:25245348

Pathogenic

Neoplasm of the large intestine
Non-small cell lung carcinoma
Thyroid tumor

No Assertion Criteria Provided

CA16602445

rs_121913535

1 SubmittersRCV000418407 RCV000429548 RCV000436018

NM_002755.4(MAP2K1):c.167A>C (p.Gln56Pro)

SNV
Germline/somatic

Chr15:66435113

Pathogenic

Non-small cell lung carcinoma
Melanoma
Melorheostosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA16602453

rs_1057519729

4 SubmittersRCV000418731 RCV000429601 RCV002051704 RCV002254296

NM_005228.5(EGFR):c.2156G>A (p.Gly719Asp)

SNV
Somatic

Chr7:55174015

Likely pathogenic

Non-small cell lung carcinoma
Squamous cell lung carcinoma
Glioblastoma
Lung adenocarcinoma

No Assertion Criteria Provided

CA16602537

rs_121913428

1 SubmittersRCV000418583 RCV000420993 RCV000428419 RCV000439067

NM_005228.5(EGFR):c.2198C>T (p.Pro733Leu)

SNV
Somatic

Chr7:55174735

Likely pathogenic

Non-small cell lung carcinoma
Esophageal squamous cell carcinoma

No Assertion Criteria Provided

CA16602538

rs_121913446

1 SubmittersRCV000428149 RCV000441469

NM_005228.5(EGFR):c.2200G>A (p.Glu734Lys)

SNV
Somatic

Chr7:55174737

Likely pathogenic

Non-small cell lung carcinoma

No Assertion Criteria Provided

CA16602539

rs_121913420

1 SubmittersRCV000424211

NM_005228.5(EGFR):c.2203G>A (p.Gly735Ser)

SNV
Somatic

Chr7:55174740

Likely pathogenic

Non-small cell lung carcinoma
Prostate neoplasm

No Assertion Criteria Provided

CA16602540

rs_121913430

1 SubmittersRCV000434054 RCV000442962

NM_005228.5(EGFR):c.2225T>C (p.Val742Ala)

SNV
Somatic

Chr7:55174762

Likely pathogenic

Non-small cell lung carcinoma

No Assertion Criteria Provided

CA16602541

rs_121913466

1 SubmittersRCV000423407

NM_005228.5(EGFR):c.2257C>T (p.Pro753Ser)

SNV
Somatic

Chr7:55174794

Likely pathogenic

Non-small cell lung carcinoma
Head and neck neoplasm

No Assertion Criteria Provided

CA4266020

rs_121913231

1 SubmittersRCV000436542 RCV000441908

NM_004304.5(ALK):c.3617C>A (p.Ser1206Tyr)

SNV
Somatic

Chr2:29220734

Likely pathogenic

Lung adenocarcinoma
Non-small cell lung carcinoma

No Assertion Criteria Provided

CA16602591

rs_1057519782

1 SubmittersRCV000422435 RCV000444462

NM_004304.5(ALK):c.3586C>A (p.Leu1196Met)

SNV
Somatic

Chr2:29220765

Likely pathogenic

Lung adenocarcinoma
Non-small cell lung carcinoma
Lung cancer

No Assertion Criteria Provided

CA16602593

rs_1057519784

2 SubmittersRCV000424376 RCV000435601 RCV002282133

NM_004304.5(ALK):c.3455T>G (p.Leu1152Arg)

SNV
Somatic

Chr2:29222404

Likely pathogenic

Non-small cell lung carcinoma
Lung adenocarcinoma

No Assertion Criteria Provided

CA16602594

rs_1057519785

1 SubmittersRCV000420784 RCV000437564

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_006182.4(DDR2):c.757G>T (p.Gly253Cys)

SNV
Somatic

Chr1:162759881

Likely pathogenic

Squamous cell lung carcinoma
Non-small cell lung carcinoma

No Assertion Criteria Provided

CA16602599

rs_376303676

1 SubmittersRCV000421258 RCV000441392

NM_006182.4(DDR2):c.1912A>T (p.Ile638Phe)

SNV
Somatic

Chr1:162775707

Likely pathogenic

Non-small cell lung carcinoma
Squamous cell lung carcinoma

No Assertion Criteria Provided

CA16602600

rs_1057519789

1 SubmittersRCV000430445 RCV000439136

NM_006182.4(DDR2):c.2321G>T (p.Gly774Val)

SNV
Somatic

Chr1:162778617

Likely pathogenic

Squamous cell lung carcinoma
Non-small cell lung carcinoma

No Assertion Criteria Provided

CA16602601

rs_1057519790

1 SubmittersRCV000421396 RCV000440691

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