Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_004985.5(KRAS):c.34G>T (p.Gly12Cys)	SNV Germline/somatic	Chr12:25245351	Likely pathogenic	Lung carcinoma Gallbladder cancer Non-small cell lung carcinoma Endometrial carcinoma Lung adenocarcinoma RASopathy Lung cancer Condition: not provided Neoplasm	Criteria Provided Single Submitter	CA122528	rs_121913530	9 SubmittersRCV000013406 RCV001292543 RCV000038265 RCV000119791 RCV000431049 RCV003654176 RCV003996092 RCV001355787 RCV004668721
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 Condition: not provided Non-small cell lung carcinoma Neoplasm RASopathy Adenoid cystic carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA122531	rs_121913530	7 SubmittersRCV000013408 RCV000013407 RCV001356365 RCV000154401 RCV004668722 RCV002513010 RCV004813033
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)	SNV Germline/somatic	Chr12:25245347	Pathogenic	Breast adenocarcinoma Non-small cell lung carcinoma Juvenile myelomonocytic leukemia Autoimmune lymphoproliferative syndrome type 4 Condition: not provided Inborn genetic diseases OCULOECTODERMAL SYNDROME, SOMATIC Nevus sebaceous RASopathy Noonan syndrome and Noonan-related syndrome Encephalocraniocutaneous lipomatosis KRAS-related disorder Neoplasm Familial pancreatic carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA122534	rs_112445441	15 SubmittersRCV000013409 RCV000038269 RCV000144967 RCV000144968 RCV001092389 RCV001266168 RCV000791297 RCV001526657 RCV001857340 RCV001813183 RCV001839444 RCV004549358 RCV004668723 RCV004813034
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 Ovarian neoplasm Condition: not provided Acute myeloid leukemia RASopathy Cerebral arteriovenous malformation Vascular Tumors Including Pyogenic Granuloma Primary low grade serous adenocarcinoma of ovary Encephalocraniocutaneous lipomatosis Capillary malformation-arteriovenous malformation 1 Congenital Pulmonary Airway Malformations Gastric cancer Neoplasm Endometrial hyperplasia without atypia Atypical endometrial hyperplasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA122538	rs_121913529	23 SubmittersRCV000013411 RCV000022799 RCV000029214 RCV000029215 RCV000144969 RCV000144970 RCV000150896 RCV000150897 RCV000272938 RCV000433573 RCV000548006 RCV000585796 RCV000662266 RCV000856666 RCV001839445 RCV001799604 RCV004554600 RCV002508117 RCV004668724 RCV003327361 RCV004018620
NM_004985.5(KRAS):c.35G>T (p.Gly12Val)	SNV Germline/somatic	Chr12:25245350	Pathogenic	Carcinoma of pancreas Nevus sebaceous Juvenile myelomonocytic leukemia Non-small cell lung carcinoma Condition: not provided Cerebral arteriovenous malformation Chronic myelogenous leukemia, BCR-ABL1 positive Linear nevus sebaceous syndrome Neoplasm Lung sarcomatoid carcinoma RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA122540	rs_121913529	12 SubmittersRCV000013413 RCV000029216 RCV000150895 RCV000154262 RCV000157944 RCV000585801 RCV002291496 RCV003455987 RCV004668725 RCV003322589 RCV003539760
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser)	SNV Germline/somatic	Chr12:25245351	Pathogenic	Gastric cancer Non-small cell lung carcinoma Juvenile myelomonocytic leukemia Ovarian neoplasm Condition: not provided RASopathy Vascular malformation Neoplasm Cardiofaciocutaneous syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA135565	rs_121913530	11 SubmittersRCV000013414 RCV000038264 RCV000144971 RCV000119790 RCV000782191 RCV001851824 RCV004562205 RCV004668726 RCV004795403
NM_004985.5(KRAS):c.37G>C (p.Gly13Arg)	SNV Somatic	Chr12:25245348	Pathogenic	Pilocytic astrocytoma Non-small cell lung carcinoma Condition: not provided	Criteria Provided Single Submitter	CA122542	rs_121913535	3 SubmittersRCV000013424 RCV000038267 RCV001357137
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	SNV Germline/somatic	Chr3:179234297	Pathogenic	OVARIAN CANCER, EPITHELIAL, SOMATIC Breast adenocarcinoma Carcinoma of colon Hepatocellular carcinoma Non-small cell lung carcinoma Seborrheic keratosis Neoplasm Rosette-forming glioneuronal tumor Segmental undergrowth associated with mainly venous malformation with capillary component Segmental undergrowth associated with lymphatic malformation MACRODACTYLY, SOMATIC Congenital macrodactylia Breast carcinoma Klippel-Trenaunay-like-Syndrome Rare combined vascular malformation CLOVES syndrome Ovarian neoplasm PIK3CA related overgrowth syndrome 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 Gastric cancer PIK3CA-related disorder Condition: not provided Lip and oral cavity carcinoma Abnormal cardiovascular system morphology Megalencephaly-capillary malformation-polymicrogyria syndrome Rare venous malformation	Reviewed By Expert Panel	CA123326	rs_121913279	30 SubmittersRCV000014623 RCV000014622 RCV000014624 RCV000014626 RCV000014627 RCV000014628 RCV000438435 RCV000487449 RCV001705589 RCV001705590 RCV000709691 RCV001526648 RCV003128082 RCV003325939 RCV004527291 RCV000024621 RCV000154516 RCV000201231 RCV001728091 RCV001729349 RCV001730472 RCV001836707 RCV002508124 RCV004737153 RCV001092442 RCV001255686 RCV001327968 RCV001807727 RCV004527290
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)	SNV Germline/somatic	Chr3:179218303	Pathogenic/Likely pathogenic	Carcinoma of colon Seborrheic keratosis OVARIAN CANCER, EPITHELIAL, SOMATIC Breast adenocarcinoma Sarcoma CLOVES syndrome PIK3CA related overgrowth syndrome Gallbladder cancer Eccrine angiomatous hamartoma PIK3CA overgrowth syndrome Non-small cell lung carcinoma Megalencephaly-capillary malformation-polymicrogyria syndrome Condition: not provided Abnormal cardiovascular system morphology Cerebrofacial Vascular Metameric Syndrome (CVMS) Gastric cancer Angioosteohypertrophic syndrome Rare venous malformation Rare combined vascular malformation Ovarian neoplasm Segmental undergrowth associated with lymphatic malformation HEMIFACIAL MYOHYPERPLASIA, SOMATIC Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA123334	rs_104886003	19 SubmittersRCV000014633 RCV000014636 RCV000014632 RCV000014631 RCV000119356 RCV001262721 RCV001290591 RCV001374447 RCV001786329 RCV004698419 RCV000038671 RCV000055930 RCV001092440 RCV001327963 RCV001730473 RCV002508125 RCV004527293 RCV004527294 RCV004527295 RCV000422210 RCV001705591 RCV003764575 RCV004668729
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)	SNV Germline/somatic	Chr1:114713908	Pathogenic	Thyroid cancer, nonmedullary, 2 Non-small cell lung carcinoma Linear nevus sebaceous syndrome Neoplasm Epidermal nevus Large congenital melanocytic nevus Neurocutaneous melanocytosis Condition: not provided Noonan syndrome 6	Criteria Provided Multiple Submitters No Conflicts	CA123618	rs_11554290	9 SubmittersRCV000014914 RCV000037574 RCV000148032 RCV004668730 RCV000032847 RCV000114744 RCV000114745 RCV000413804 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 Melanoma Non-small cell lung carcinoma Condition: not provided Cardio-facio-cutaneous syndrome Multiple myeloma Neoplasm Cystic epithelial invagination containing papillae lined by columnar epithelium Cerebral arteriovenous malformation Colorectal cancer Nephroblastoma Malignant neoplastic disease Lymphangioma Vascular malformation Cardiovascular phenotype Thyroid gland undifferentiated (anaplastic) carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA123643	rs_113488022	19 SubmittersRCV000014992 RCV000014993 RCV000014994 RCV000022677 RCV000067669 RCV000037936 RCV000080903 RCV000208763 RCV000430562 RCV000443448 RCV000662278 RCV000860020 RCV001030023 RCV001248834 RCV001254874 RCV002051586 RCV003458334 RCV004018627 RCV004719648
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu)	SNV Somatic	Chr7:140753334	Pathogenic	Carcinoma of colon Thyroid cancer, nonmedullary, 2 Non-small cell lung carcinoma Lung adenocarcinoma	Criteria Provided Single Submitter	CA123645	rs_121913364	3 SubmittersRCV000014999 RCV000015000 RCV000037938 RCV000433498
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val)	SNV Somatic	Chr7:140781611	Pathogenic	Non-small cell lung carcinoma Lung adenocarcinoma	No Assertion Criteria Provided	CA123647	rs_121913351	2 SubmittersRCV000037916 RCV000015001
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val)	SNV Germline/somatic	Chr7:140753346	Pathogenic	Non-small cell lung carcinoma Cardio-facio-cutaneous syndrome Noonan syndrome Noonan syndrome 1 Noonan syndrome and Noonan-related syndrome Noonan syndrome 7 Cardio-facio-cutaneous syndrome Condition: not provided RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA123651	rs_121913369	11 SubmittersRCV000015003 RCV000033333 RCV000208539 RCV001813207 RCV000030948 RCV002271369 RCV000505705 RCV002513056
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala)	SNV Somatic	Chr7:140781602	Pathogenic	Non-Hodgkin lymphoma Non-small cell lung carcinoma	Criteria Provided Single Submitter	CA123655	rs_121913355	2 SubmittersRCV000015005 RCV000150210
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 Lung adenocarcinoma RASopathy	Criteria Provided Conflicting Classifications	CA123657	rs_121913338	4 SubmittersRCV000015006 RCV000037932 RCV000426107 RCV001238853
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; drug response	Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic Non-small cell lung carcinoma	No Assertion Criteria Provided	CA126719	rs_28929495	2 SubmittersRCV000018086 RCV000038380
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)	SNV Germline/somatic	Chr3:179218294	Pathogenic	CLOVES syndrome Ovarian neoplasm Non-small cell lung carcinoma Condition: not provided CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC Abnormal cardiovascular system morphology Cowden syndrome HEMIFACIAL MYOHYPERPLASIA, SOMATIC CLAPO syndrome PIK3CA-related overgrowth PIK3CA-related disorder Megalencephaly-capillary malformation-polymicrogyria syndrome Lip and oral cavity carcinoma Cerebrofacial Vascular Metameric Syndrome (CVMS) Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes Rare venous malformation PIK3CA related overgrowth syndrome Neoplasm	Reviewed By Expert Panel	CA333572	rs_121913273	18 SubmittersRCV000024622 RCV000151649 RCV000154513 RCV000416776 RCV001728093 RCV001327962 RCV002513230 RCV003764635 RCV000709693 RCV003987334 RCV004532404 RCV004698785 RCV001255687 RCV001730477 RCV001836714 RCV004527296 RCV003458190 RCV004668742
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 Cowden syndrome 13 conditions Condition: not provided Segmental undergrowth associated with mainly venous malformation with capillary component CLOVES syndrome PIK3CA related overgrowth syndrome HEMIFACIAL MYOHYPERPLASIA, SOMATIC PIK3CA overgrowth syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA130471	rs_121913281	13 SubmittersRCV000032909 RCV000038675 RCV000698423 RCV000763508 RCV001092441 RCV001705625 RCV002226661 RCV003233079 RCV003882732 RCV004698336 RCV004955262
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val)	SNV Germline/somatic	Chr7:140781617	Pathogenic/Likely pathogenic	Non-small cell lung carcinoma RASopathy Noonan syndrome and Noonan-related syndrome Cardiofaciocutaneous syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA135076	rs_121913348	6 SubmittersRCV000037914 RCV000033302 RCV001813221 RCV002250499 RCV001811232
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr)	SNV Germline	Chr11:533881	Likely pathogenic	Costello syndrome Non-small cell lung carcinoma RASopathy	Reviewed By Expert Panel	CA176353	rs_727503093	4 SubmittersRCV000150835 RCV000150834 RCV004760350
NM_004333.6(BRAF):c.1396G>A (p.Gly466Arg)	SNV Somatic	Chr7:140781612	Pathogenic/Likely pathogenic	Non-small cell lung carcinoma Vascular malformation	Criteria Provided Multiple Submitters No Conflicts	CA135079	rs_121913353	2 SubmittersRCV000037915 RCV004562228
NM_004333.6(BRAF):c.1406G>T (p.Gly469Val)	SNV Somatic	Chr7:140781602	Pathogenic	Non-small cell lung carcinoma	Criteria Provided Single Submitter	CA135085	rs_121913355	1 SubmittersRCV000037919
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn)	SNV Germline/somatic	Chr7:140753355	Likely pathogenic	Non-small cell lung carcinoma Lung adenocarcinoma Prostate cancer, hereditary, 1	Criteria Provided Single Submitter	CA135095	rs_397516896	3 SubmittersRCV000037931 RCV000443573 RCV002291550
NM_004333.6(BRAF):c.1798G>A (p.Val600Met)	SNV Somatic	Chr7:140753337	Likely pathogenic	Non-small cell lung carcinoma Condition: not provided	Criteria Provided Single Submitter	CA135101	rs_121913378	2 SubmittersRCV000037934 RCV001357636
NM_004333.6(BRAF):c.1798G>T (p.Val600Leu)	SNV Somatic	Chr7:140753337	Likely pathogenic	Non-small cell lung carcinoma Myoepithelial tumor	Criteria Provided Single Submitter	CA135104	rs_121913378	2 SubmittersRCV000037935 RCV002463625
NM_004985.5(KRAS):c.182A>T (p.Gln61Leu)	SNV Somatic	Chr12:25227342	Pathogenic	Non-small cell lung carcinoma Multiple myeloma Medullary thyroid carcinoma Neoplasm	Criteria Provided Single Submitter	CA210876	rs_121913240	4 SubmittersRCV000038258 RCV000984128 RCV004813050 RCV004668757
NM_004985.5(KRAS):c.183A>T (p.Gln61His)	SNV Somatic	Chr12:25227341	Pathogenic	Non-small cell lung carcinoma Cerebral arteriovenous malformation	No Assertion Criteria Provided	CA135552	rs_17851045	2 SubmittersRCV000038259 RCV003445113
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala)	SNV Germline/somatic	Chr12:25245350	Pathogenic/Likely pathogenic	Non-small cell lung carcinoma Multiple myeloma Condition: not provided Gallbladder cancer Lung cancer KRAS-related disorder 12 conditions Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA135567	rs_121913529	8 SubmittersRCV000038266 RCV000984117 RCV001355876 RCV001374446 RCV003996396 RCV004549454 RCV004795958 RCV004668758
NM_004985.5(KRAS):c.37G>T (p.Gly13Cys)	SNV Germline/somatic	Chr12:25245348	Pathogenic/Likely pathogenic	Non-small cell lung carcinoma Condition: not provided Autoimmune lymphoproliferative syndrome type 4 KRAS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA135570	rs_121913535	8 SubmittersRCV000038268 RCV000681039 RCV000144972 RCV003335071
NM_004985.5(KRAS):c.38G>T (p.Gly13Val)	SNV Somatic	Chr12:25245347	Pathogenic	Non-small cell lung carcinoma Condition: not provided	Criteria Provided Single Submitter	CA135573	rs_112445441	2 SubmittersRCV000038270 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 Neoplasm	Criteria Provided Single Submitter	CA135775	rs_121913428	3 SubmittersRCV000038381 RCV004668759
NM_005228.5(EGFR):c.2303G>T (p.Ser768Ile)	SNV Germline/somatic	Chr7:55181312	Pathogenic	Non-small cell lung carcinoma Neoplasm	Criteria Provided Single Submitter	CA135840	rs_121913465	3 SubmittersRCV000038407 RCV004668760
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 PIK3CA related overgrowth syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA136374	rs_397517202	5 SubmittersRCV000038673 RCV001526503 RCV003458194 RCV002254274
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 Cowden syndrome Megalencephaly-capillary malformation-polymicrogyria syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA183868	rs_121913283	5 SubmittersRCV000155959 RCV000201237 RCV000699681 RCV001526545 RCV002293423
NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser)	SNV Somatic	Chr7:140753393	Likely pathogenic	Non-small cell lung carcinoma Lung adenocarcinoma	Criteria Provided Single Submitter	CA180747	rs_121913370	2 SubmittersRCV000154399 RCV000430462
NM_004333.6(BRAF):c.1405G>A (p.Gly469Arg)	SNV Germline/somatic	Chr7:140781603	Pathogenic/Likely pathogenic	Non-small cell lung carcinoma Noonan syndrome and Noonan-related syndrome	Criteria Provided Multiple Submitters No Conflicts	CA180746	rs_121913357	2 SubmittersRCV000154398 RCV001813396
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	Criteria Provided Single Submitter	CA180750	rs_121913238	1 SubmittersRCV000154402
NM_004985.5(KRAS):c.183A>C (p.Gln61His)	SNV Germline/somatic	Chr12:25227341	Conflicting classifications of pathogenicity	Non-small cell lung carcinoma Juvenile myelomonocytic leukemia Condition: not provided RASopathy Cardiovascular phenotype Primary intracranial sarcoma, DICER1-mutant Neoplasm	Criteria Provided Conflicting Classifications	CA180922	rs_17851045	7 SubmittersRCV000154530 RCV001004043 RCV002056053 RCV002514970 RCV002408686 RCV004698422 RCV004668811
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	5 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_002755.4(MAP2K1):c.167A>C (p.Gln56Pro)	SNV Germline/somatic	Chr15:66435113	Pathogenic	Non-small cell lung carcinoma Melorheostosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA16602453	rs_1057519729	3 SubmittersRCV000418731 RCV002051704 RCV002254296

SNV
Germline/somatic

Chr12:25245351

Likely pathogenic

Lung carcinoma
Gallbladder cancer
Non-small cell lung carcinoma
Endometrial carcinoma
Lung adenocarcinoma
RASopathy
Lung cancer
Condition: not provided
Neoplasm

Criteria Provided
Single Submitter

CA122528

rs_121913530

9 SubmittersRCV000013406 RCV001292543 RCV000038265 RCV000119791 RCV000431049 RCV003654176 RCV003996092 RCV001355787 RCV004668721

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
Condition: not provided
Non-small cell lung carcinoma
Neoplasm
RASopathy
Adenoid cystic carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA122531

rs_121913530

7 SubmittersRCV000013408 RCV000013407 RCV001356365 RCV000154401 RCV004668722 RCV002513010 RCV004813033

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

SNV
Germline/somatic

Chr12:25245347

Pathogenic

Breast adenocarcinoma
Non-small cell lung carcinoma
Juvenile myelomonocytic leukemia
Autoimmune lymphoproliferative syndrome type 4
Condition: not provided
Inborn genetic diseases
OCULOECTODERMAL SYNDROME, SOMATIC
Nevus sebaceous
RASopathy
Noonan syndrome and Noonan-related syndrome
Encephalocraniocutaneous lipomatosis
KRAS-related disorder
Neoplasm
Familial pancreatic carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA122534

rs_112445441

15 SubmittersRCV000013409 RCV000038269 RCV000144967 RCV000144968 RCV001092389 RCV001266168 RCV000791297 RCV001526657 RCV001857340 RCV001813183 RCV001839444 RCV004549358 RCV004668723 RCV004813034

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
Ovarian neoplasm
Condition: not provided
Acute myeloid leukemia
RASopathy
Cerebral arteriovenous malformation
Vascular Tumors Including Pyogenic Granuloma
Primary low grade serous adenocarcinoma of ovary
Encephalocraniocutaneous lipomatosis
Capillary malformation-arteriovenous malformation 1
Congenital Pulmonary Airway Malformations
Gastric cancer
Neoplasm
Endometrial hyperplasia without atypia
Atypical endometrial hyperplasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA122538

rs_121913529

23 SubmittersRCV000013411 RCV000022799 RCV000029214 RCV000029215 RCV000144969 RCV000144970 RCV000150896 RCV000150897 RCV000272938 RCV000433573 RCV000548006 RCV000585796 RCV000662266 RCV000856666 RCV001839445 RCV001799604 RCV004554600 RCV002508117 RCV004668724 RCV003327361 RCV004018620

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

SNV
Germline/somatic

Chr12:25245350

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA122540

rs_121913529

12 SubmittersRCV000013413 RCV000029216 RCV000150895 RCV000154262 RCV000157944 RCV000585801 RCV002291496 RCV003455987 RCV004668725 RCV003322589 RCV003539760

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

SNV
Germline/somatic

Chr12:25245351

Pathogenic

Gastric cancer
Non-small cell lung carcinoma
Juvenile myelomonocytic leukemia
Ovarian neoplasm
Condition: not provided
RASopathy
Vascular malformation
Neoplasm
Cardiofaciocutaneous syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA135565

rs_121913530

11 SubmittersRCV000013414 RCV000038264 RCV000144971 RCV000119790 RCV000782191 RCV001851824 RCV004562205 RCV004668726 RCV004795403

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

SNV
Somatic

Chr12:25245348

Pathogenic

Pilocytic astrocytoma
Non-small cell lung carcinoma
Condition: not provided

Criteria Provided
Single Submitter

CA122542

rs_121913535

3 SubmittersRCV000013424 RCV000038267 RCV001357137

NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)

SNV
Germline/somatic

Chr3:179234297

Pathogenic

OVARIAN CANCER, EPITHELIAL, SOMATIC
Breast adenocarcinoma
Carcinoma of colon
Hepatocellular carcinoma
Non-small cell lung carcinoma
Seborrheic keratosis
Neoplasm
Rosette-forming glioneuronal tumor
Segmental undergrowth associated with mainly venous malformation with capillary component
Segmental undergrowth associated with lymphatic malformation
MACRODACTYLY, SOMATIC
Congenital macrodactylia
Breast carcinoma
Klippel-Trenaunay-like-Syndrome
Rare combined vascular malformation
CLOVES syndrome
Ovarian neoplasm
PIK3CA related overgrowth syndrome
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
Gastric cancer
PIK3CA-related disorder
Condition: not provided
Lip and oral cavity carcinoma
Abnormal cardiovascular system morphology
Megalencephaly-capillary malformation-polymicrogyria syndrome
Rare venous malformation

Reviewed By Expert Panel

CA123326

rs_121913279

30 SubmittersRCV000014623 RCV000014622 RCV000014624 RCV000014626 RCV000014627 RCV000014628 RCV000438435 RCV000487449 RCV001705589 RCV001705590 RCV000709691 RCV001526648 RCV003128082 RCV003325939 RCV004527291 RCV000024621 RCV000154516 RCV000201231 RCV001728091 RCV001729349 RCV001730472 RCV001836707 RCV002508124 RCV004737153 RCV001092442 RCV001255686 RCV001327968 RCV001807727 RCV004527290

NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)

SNV
Germline/somatic

Chr3:179218303

Pathogenic/Likely pathogenic

Carcinoma of colon
Seborrheic keratosis
OVARIAN CANCER, EPITHELIAL, SOMATIC
Breast adenocarcinoma
Sarcoma
CLOVES syndrome
PIK3CA related overgrowth syndrome
Gallbladder cancer
Eccrine angiomatous hamartoma
PIK3CA overgrowth syndrome
Non-small cell lung carcinoma
Megalencephaly-capillary malformation-polymicrogyria syndrome
Condition: not provided
Abnormal cardiovascular system morphology
Cerebrofacial Vascular Metameric Syndrome (CVMS)
Gastric cancer
Angioosteohypertrophic syndrome
Rare venous malformation
Rare combined vascular malformation
Ovarian neoplasm
Segmental undergrowth associated with lymphatic malformation
HEMIFACIAL MYOHYPERPLASIA, SOMATIC
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA123334

rs_104886003

19 SubmittersRCV000014633 RCV000014636 RCV000014632 RCV000014631 RCV000119356 RCV001262721 RCV001290591 RCV001374447 RCV001786329 RCV004698419 RCV000038671 RCV000055930 RCV001092440 RCV001327963 RCV001730473 RCV002508125 RCV004527293 RCV004527294 RCV004527295 RCV000422210 RCV001705591 RCV003764575 RCV004668729

NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)

SNV
Germline/somatic

Chr1:114713908

Pathogenic

Thyroid cancer, nonmedullary, 2
Non-small cell lung carcinoma
Linear nevus sebaceous syndrome
Neoplasm
Epidermal nevus
Large congenital melanocytic nevus
Neurocutaneous melanocytosis
Condition: not provided
Noonan syndrome 6

Criteria Provided
Multiple Submitters
No Conflicts

CA123618

rs_11554290

9 SubmittersRCV000014914 RCV000037574 RCV000148032 RCV004668730 RCV000032847 RCV000114744 RCV000114745 RCV000413804 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
Melanoma
Non-small cell lung carcinoma
Condition: not provided
Cardio-facio-cutaneous syndrome
Multiple myeloma
Neoplasm
Cystic epithelial invagination containing papillae lined by columnar epithelium
Cerebral arteriovenous malformation
Colorectal cancer
Nephroblastoma
Malignant neoplastic disease
Lymphangioma
Vascular malformation
Cardiovascular phenotype
Thyroid gland undifferentiated (anaplastic) carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA123643

rs_113488022

19 SubmittersRCV000014992 RCV000014993 RCV000014994 RCV000022677 RCV000067669 RCV000037936 RCV000080903 RCV000208763 RCV000430562 RCV000443448 RCV000662278 RCV000860020 RCV001030023 RCV001248834 RCV001254874 RCV002051586 RCV003458334 RCV004018627 RCV004719648

NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu)

SNV
Somatic

Chr7:140753334

Pathogenic

Carcinoma of colon
Thyroid cancer, nonmedullary, 2
Non-small cell lung carcinoma
Lung adenocarcinoma

Criteria Provided
Single Submitter

CA123645

rs_121913364

3 SubmittersRCV000014999 RCV000015000 RCV000037938 RCV000433498

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

SNV
Somatic

Chr7:140781611

Pathogenic

Non-small cell lung carcinoma
Lung adenocarcinoma

No Assertion Criteria Provided

CA123647

rs_121913351

2 SubmittersRCV000037916 RCV000015001

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

SNV
Germline/somatic

Chr7:140753346

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA123651

rs_121913369

11 SubmittersRCV000015003 RCV000033333 RCV000208539 RCV001813207 RCV000030948 RCV002271369 RCV000505705 RCV002513056

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

SNV
Somatic

Chr7:140781602

Pathogenic

Non-Hodgkin lymphoma
Non-small cell lung carcinoma

Criteria Provided
Single Submitter

CA123655

rs_121913355

2 SubmittersRCV000015005 RCV000150210

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
Lung adenocarcinoma
RASopathy

Criteria Provided
Conflicting Classifications

CA123657

rs_121913338

4 SubmittersRCV000015006 RCV000037932 RCV000426107 RCV001238853

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; drug response

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

No Assertion Criteria Provided

CA126719

rs_28929495

2 SubmittersRCV000018086 RCV000038380

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

SNV
Germline/somatic

Chr3:179218294

Pathogenic

CLOVES syndrome
Ovarian neoplasm
Non-small cell lung carcinoma
Condition: not provided
CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC
Abnormal cardiovascular system morphology
Cowden syndrome
HEMIFACIAL MYOHYPERPLASIA, SOMATIC
CLAPO syndrome
PIK3CA-related overgrowth
PIK3CA-related disorder
Megalencephaly-capillary malformation-polymicrogyria syndrome
Lip and oral cavity carcinoma
Cerebrofacial Vascular Metameric Syndrome (CVMS)
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Rare venous malformation
PIK3CA related overgrowth syndrome
Neoplasm

Reviewed By Expert Panel

CA333572

rs_121913273

18 SubmittersRCV000024622 RCV000151649 RCV000154513 RCV000416776 RCV001728093 RCV001327962 RCV002513230 RCV003764635 RCV000709693 RCV003987334 RCV004532404 RCV004698785 RCV001255687 RCV001730477 RCV001836714 RCV004527296 RCV003458190 RCV004668742

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
Cowden syndrome
13 conditions
Condition: not provided
Segmental undergrowth associated with mainly venous malformation with capillary component
CLOVES syndrome
PIK3CA related overgrowth syndrome
HEMIFACIAL MYOHYPERPLASIA, SOMATIC
PIK3CA overgrowth syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA130471

rs_121913281

13 SubmittersRCV000032909 RCV000038675 RCV000698423 RCV000763508 RCV001092441 RCV001705625 RCV002226661 RCV003233079 RCV003882732 RCV004698336 RCV004955262

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

SNV
Germline/somatic

Chr7:140781617

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA135076

rs_121913348

6 SubmittersRCV000037914 RCV000033302 RCV001813221 RCV002250499 RCV001811232

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

SNV
Germline

Chr11:533881

Likely pathogenic

Costello syndrome
Non-small cell lung carcinoma
RASopathy

Reviewed By Expert Panel

CA176353

rs_727503093

4 SubmittersRCV000150835 RCV000150834 RCV004760350

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

SNV
Somatic

Chr7:140781612

Pathogenic/Likely pathogenic

Non-small cell lung carcinoma
Vascular malformation

Criteria Provided
Multiple Submitters
No Conflicts

CA135079

rs_121913353

2 SubmittersRCV000037915 RCV004562228

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

SNV
Somatic

Chr7:140781602

Pathogenic

Non-small cell lung carcinoma

Criteria Provided
Single Submitter

CA135085

rs_121913355

1 SubmittersRCV000037919

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

SNV
Germline/somatic

Chr7:140753355

Likely pathogenic

Non-small cell lung carcinoma
Lung adenocarcinoma
Prostate cancer, hereditary, 1

Criteria Provided
Single Submitter

CA135095

rs_397516896

3 SubmittersRCV000037931 RCV000443573 RCV002291550

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

SNV
Somatic

Chr7:140753337

Likely pathogenic

Non-small cell lung carcinoma
Condition: not provided

Criteria Provided
Single Submitter

CA135101

rs_121913378

2 SubmittersRCV000037934 RCV001357636

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

SNV
Somatic

Chr7:140753337

Likely pathogenic

Non-small cell lung carcinoma
Myoepithelial tumor

Criteria Provided
Single Submitter

CA135104

rs_121913378

2 SubmittersRCV000037935 RCV002463625

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

SNV
Somatic

Chr12:25227342

Pathogenic

Non-small cell lung carcinoma
Multiple myeloma
Medullary thyroid carcinoma
Neoplasm

Criteria Provided
Single Submitter

CA210876

rs_121913240

4 SubmittersRCV000038258 RCV000984128 RCV004813050 RCV004668757

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

SNV
Somatic

Chr12:25227341

Pathogenic

Non-small cell lung carcinoma
Cerebral arteriovenous malformation

No Assertion Criteria Provided

CA135552

rs_17851045

2 SubmittersRCV000038259 RCV003445113

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

SNV
Germline/somatic

Chr12:25245350

Pathogenic/Likely pathogenic

Non-small cell lung carcinoma
Multiple myeloma
Condition: not provided
Gallbladder cancer
Lung cancer
KRAS-related disorder
12 conditions
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA135567

rs_121913529

8 SubmittersRCV000038266 RCV000984117 RCV001355876 RCV001374446 RCV003996396 RCV004549454 RCV004795958 RCV004668758

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

SNV
Germline/somatic

Chr12:25245348

Pathogenic/Likely pathogenic

Non-small cell lung carcinoma
Condition: not provided
Autoimmune lymphoproliferative syndrome type 4
KRAS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA135570

rs_121913535

8 SubmittersRCV000038268 RCV000681039 RCV000144972 RCV003335071

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

SNV
Somatic

Chr12:25245347

Pathogenic

Non-small cell lung carcinoma
Condition: not provided

Criteria Provided
Single Submitter

CA135573

rs_112445441

2 SubmittersRCV000038270 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
Neoplasm

Criteria Provided
Single Submitter

CA135775

rs_121913428

3 SubmittersRCV000038381 RCV004668759

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

SNV
Germline/somatic

Chr7:55181312

Pathogenic

Non-small cell lung carcinoma
Neoplasm

Criteria Provided
Single Submitter

CA135840

rs_121913465

3 SubmittersRCV000038407 RCV004668760

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
PIK3CA related overgrowth syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA136374

rs_397517202

5 SubmittersRCV000038673 RCV001526503 RCV003458194 RCV002254274

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
Cowden syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA183868

rs_121913283

5 SubmittersRCV000155959 RCV000201237 RCV000699681 RCV001526545 RCV002293423

NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser)

SNV
Somatic

Chr7:140753393

Likely pathogenic

Non-small cell lung carcinoma
Lung adenocarcinoma

Criteria Provided
Single Submitter

CA180747

rs_121913370

2 SubmittersRCV000154399 RCV000430462

NM_004333.6(BRAF):c.1405G>A (p.Gly469Arg)

SNV
Germline/somatic

Chr7:140781603

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA180746

rs_121913357

2 SubmittersRCV000154398 RCV001813396

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

Criteria Provided
Single Submitter

CA180750

rs_121913238

1 SubmittersRCV000154402

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

SNV
Germline/somatic

Chr12:25227341

Conflicting classifications of pathogenicity

Non-small cell lung carcinoma
Juvenile myelomonocytic leukemia
Condition: not provided
RASopathy
Cardiovascular phenotype
Primary intracranial sarcoma, DICER1-mutant
Neoplasm

Criteria Provided
Conflicting Classifications

CA180922

rs_17851045

7 SubmittersRCV000154530 RCV001004043 RCV002056053 RCV002514970 RCV002408686 RCV004698422 RCV004668811

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