Total 72 pathogenic variants reported for Non-small cell lung carcinoma 
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
Non-small cell lung carcinoma
Endometrial carcinoma
Lung adenocarcinoma
Gallbladder cancer
Condition: not provided
RASopathy
Lung cancer
Neoplasm
Criteria Provided
Single Submitter
CA122528 rs_121913530

9 SubmittersRCV000013406RCV000038265RCV000119791RCV000431049RCV001292543RCV001355787RCV003654176RCV003996092RCV004668721

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
Condition: not provided
RASopathy
Adenoid cystic carcinoma
Neoplasm
Criteria Provided
Multiple Submitters
No Conflicts
CA122531 rs_121913530

7 SubmittersRCV000013408RCV000013407RCV000154401RCV001356365RCV002513010RCV004813033RCV004668722

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
OCULOECTODERMAL SYNDROME, SOMATIC
Condition: not provided
Inborn genetic diseases
Nevus sebaceous
Noonan syndrome and Noonan-related syndrome
Encephalocraniocutaneous lipomatosis
RASopathy
Neoplasm
KRAS-related disorder
Familial pancreatic carcinoma
Criteria Provided
Multiple Submitters
No Conflicts
CA122534 rs_112445441

15 SubmittersRCV000013409RCV000038269RCV000144967RCV000144968RCV000791297RCV001092389RCV001266168RCV001526657RCV001813183RCV001839444RCV001857340RCV004668723RCV004549358RCV004813034

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
Capillary malformation-arteriovenous malformation 1
Encephalocraniocutaneous lipomatosis
Gastric cancer
Endometrial hyperplasia without atypia
Atypical endometrial hyperplasia
Congenital Pulmonary Airway Malformations
Neoplasm
Cardiovascular phenotype
12 conditions
KRAS-related overgrowth
Criteria Provided
Multiple Submitters
No Conflicts
CA122538 rs_121913529

25 SubmittersRCV000013411RCV000022799RCV000029214RCV000029215RCV000144969RCV000144970RCV000150896RCV000150897RCV000272938RCV000433573RCV000548006RCV000585796RCV000662266RCV000856666RCV001799604RCV001839445RCV002508117RCV003327361RCV004554600RCV004668724RCV004018620RCV005007840RCV005251035

NM_004985.5(KRAS):c.35G>T (p.Gly12Val) SNV
Germline/somatic
Chr12:25245350 Pathogenic Carcinoma of pancreas
Nevus sebaceous
Condition: not provided
Juvenile myelomonocytic leukemia
Non-small cell lung carcinoma
Cerebral arteriovenous malformation
Chronic myelogenous leukemia, BCR-ABL1 positive
Lung sarcomatoid carcinoma
Linear nevus sebaceous syndrome
RASopathy
Neoplasm
Criteria Provided
Multiple Submitters
No Conflicts
CA122540 rs_121913529

12 SubmittersRCV000013413RCV000029216RCV000157944RCV000150895RCV000154262RCV000585801RCV002291496RCV003322589RCV003455987RCV003539760RCV004668725

NM_004985.5(KRAS):c.34G>A (p.Gly12Ser) SNV
Germline/somatic
Chr12:25245351 Pathogenic Gastric cancer
Ovarian neoplasm
Non-small cell lung carcinoma
Juvenile myelomonocytic leukemia
Condition: not provided
RASopathy
Vascular malformation
Neoplasm
Cardiofaciocutaneous syndrome 2
Criteria Provided
Multiple Submitters
No Conflicts
CA135565 rs_121913530

11 SubmittersRCV000013414RCV000119790RCV000038264RCV000144971RCV000782191RCV001851824RCV004562205RCV004668726RCV004795403

NM_004985.5(KRAS):c.37G>C (p.Gly13Arg) SNV
Somatic
Chr12:25245348 Pathogenic Non-small cell lung carcinoma
Pilocytic astrocytoma
Condition: not provided
Criteria Provided
Single Submitter
CA122542 rs_121913535

3 SubmittersRCV000038267RCV000013424RCV001357137

NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) SNV
Germline/somatic
Chr3:179234297 Pathogenic Carcinoma of colon
Hepatocellular carcinoma
Non-small cell lung carcinoma
Seborrheic keratosis
Breast adenocarcinoma
OVARIAN CANCER, EPITHELIAL, SOMATIC
CLOVES syndrome
Ovarian neoplasm
PIK3CA related overgrowth syndrome
Neoplasm
Rosette-forming glioneuronal tumor
MACRODACTYLY, SOMATIC
Condition: not provided
Lip and oral cavity carcinoma
Abnormal cardiovascular system morphology
CEREBRAL CAVERNOUS MALFORMATIONS 4, SOMATIC
CLAPO syndrome
Cerebrofacial Vascular Metameric Syndrome (CVMS)
Segmental undergrowth associated with mainly venous malformation with capillary component
Segmental undergrowth associated with lymphatic malformation
Megalencephaly-capillary malformation-polymicrogyria syndrome
Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
Congenital macrodactylia
Gastric cancer
Breast carcinoma
Klippel-Trenaunay-like-Syndrome
Rare venous malformation
Rare combined vascular malformation
PIK3CA-related disorder
PIK3CA-Related Overgrowth Spectrum Disorders
Reviewed By Expert Panel
CA123326 rs_121913279

30 SubmittersRCV000014624RCV000014626RCV000014627RCV000014628RCV000014622RCV000014623RCV000024621RCV000154516RCV000201231RCV000438435RCV000487449RCV000709691RCV001092442RCV001255686RCV001327968RCV001728091RCV001729349RCV001730472RCV001705589RCV001705590RCV001807727RCV001836707RCV001526648RCV002508124RCV003128082RCV003325939RCV004527290RCV004527291RCV004737153RCV005051734

NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) SNV
Germline/somatic
Chr3:179218303 Pathogenic/Likely pathogenic Carcinoma of colon
Seborrheic keratosis
Breast adenocarcinoma
OVARIAN CANCER, EPITHELIAL, SOMATIC
Non-small cell lung carcinoma
Megalencephaly-capillary malformation-polymicrogyria syndrome
Sarcoma
Ovarian neoplasm
Condition: not provided
CLOVES syndrome
Abnormal cardiovascular system morphology
PIK3CA related overgrowth syndrome
Cerebrofacial Vascular Metameric Syndrome (CVMS)
Segmental undergrowth associated with lymphatic malformation
Gallbladder cancer
Eccrine angiomatous hamartoma
Gastric cancer
HEMIFACIAL MYOHYPERPLASIA, SOMATIC
Angioosteohypertrophic syndrome
Rare venous malformation
Rare combined vascular malformation
Neoplasm
PIK3CA overgrowth syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA123334 rs_104886003

19 SubmittersRCV000014633RCV000014636RCV000014631RCV000014632RCV000038671RCV000055930RCV000119356RCV000422210RCV001092440RCV001262721RCV001327963RCV001290591RCV001730473RCV001705591RCV001374447RCV001786329RCV002508125RCV003764575RCV004527293RCV004527294RCV004527295RCV004668729RCV004698419

NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) SNV
Germline/somatic
Chr1:114713908 Pathogenic Thyroid cancer, nonmedullary, 2
Epidermal nevus
Large congenital melanocytic nevus
Neurocutaneous melanocytosis
Non-small cell lung carcinoma
Condition: not provided
Linear nevus sebaceous syndrome
Noonan syndrome 6
Neoplasm
Colorectal cancer
Vascular malformation
Nodal T-follicular helper cell lymphoma
Criteria Provided
Multiple Submitters
No Conflicts
CA123618 rs_11554290

11 SubmittersRCV000014914RCV000032847RCV000114744RCV000114745RCV000037574RCV000413804RCV000148032RCV003992155RCV004668730RCV005603586RCV005251039RCV005604774

NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) SNV
Germline/somatic
Chr7:140753336 Conflicting classifications of pathogenicity Carcinoma of colon
Papillary thyroid carcinoma
Astrocytoma, low-grade, somatic
Nongerminomatous germ cell tumor
Non-small cell lung carcinoma
Melanoma
Condition: not provided
Cardio-facio-cutaneous syndrome
Multiple myeloma
Neoplasm
Cystic epithelial invagination containing papillae lined by columnar epithelium
Cerebral arteriovenous malformation
Colorectal cancer
Malignant neoplastic disease
Nephroblastoma
Lymphangioma
Vascular malformation
Cardiovascular phenotype
Thyroid gland undifferentiated (anaplastic) carcinoma
RASopathy
Criteria Provided
Conflicting Classifications
CA123643 rs_113488022

20 SubmittersRCV000014992RCV000014993RCV000014994RCV000022677RCV000037936RCV000067669RCV000080903RCV000208763RCV000430562RCV000443448RCV000662278RCV000860020RCV001030023RCV001254874RCV001248834RCV002051586RCV003458334RCV004018627RCV004719648RCV005089260

NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu) SNV
Somatic
Chr7:140753334 Pathogenic Non-small cell lung carcinoma
Carcinoma of colon
Thyroid cancer, nonmedullary, 2
Lung adenocarcinoma
Neoplasm
Criteria Provided
Single Submitter
CA123645 rs_121913364

4 SubmittersRCV000037938RCV000014999RCV000015000RCV000433498RCV005229793

NM_004333.6(BRAF):c.1397G>T (p.Gly466Val) SNV
Somatic
Chr7:140781611 Pathogenic Lung adenocarcinoma
Non-small cell lung carcinoma
No Assertion Criteria Provided
CA123647 rs_121913351

2 SubmittersRCV000015001RCV000037916

NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) SNV
Germline/somatic
Chr7:140753346 Pathogenic Non-small cell lung carcinoma
Noonan syndrome 7
Cardio-facio-cutaneous syndrome
Noonan syndrome
Noonan syndrome 1
Condition: not provided
Noonan syndrome and Noonan-related syndrome
Cardio-facio-cutaneous syndrome
RASopathy
Noonan syndrome 7
LEOPARD syndrome 3
Cardiofaciocutaneous syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA123651 rs_121913369

12 SubmittersRCV000015003RCV000030948RCV000033333RCV000208539RCV000505705RCV001813207RCV002271369RCV002513056RCV005222683

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 SubmittersRCV000015005RCV000150210

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
Condition: not provided
Neoplasm
Criteria Provided
Conflicting Classifications
CA123657 rs_121913338

6 SubmittersRCV000015006RCV000037932RCV000426107RCV001238853RCV005251040RCV005229794

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 SubmittersRCV000018086RCV000038380

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
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
PIK3CA-related overgrowth
PIK3CA-related disorder
Cowden syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome
HEMIFACIAL MYOHYPERPLASIA, SOMATIC
Rare venous malformation
PIK3CA related overgrowth syndrome
Neoplasm
Reviewed By Expert Panel
CA333572 rs_121913273

18 SubmittersRCV000024622RCV000151649RCV000154513RCV000416776RCV000709693RCV001255687RCV001728093RCV001327962RCV001730477RCV001836714RCV003987334RCV004532404RCV002513230RCV004698785RCV003764635RCV004527296RCV003458190RCV004668742

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
PIK3CA related overgrowth syndrome
CLOVES syndrome
HEMIFACIAL MYOHYPERPLASIA, SOMATIC
PIK3CA overgrowth syndrome
Inborn genetic diseases
Criteria Provided
Multiple Submitters
No Conflicts
CA130471 rs_121913281

14 SubmittersRCV000032909RCV000038675RCV000698423RCV000763508RCV001092441RCV001705625RCV003233079RCV002226661RCV003882732RCV004698336RCV004955262

NM_004333.6(BRAF):c.1391G>T (p.Gly464Val) SNV
Germline/somatic
Chr7:140781617 Pathogenic/Likely pathogenic RASopathy
Non-small cell lung carcinoma
Noonan syndrome and Noonan-related syndrome
Condition: not provided
Cardiofaciocutaneous syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA135076 rs_121913348

7 SubmittersRCV000033302RCV000037914RCV001813221RCV001811232RCV002250499

NM_005343.4(HRAS):c.175G>A (p.Ala59Thr) SNV
Germline
Chr11:533881 Likely pathogenic Non-small cell lung carcinoma
Costello syndrome
RASopathy
not specified
Reviewed By Expert Panel
CA176353 rs_727503093

5 SubmittersRCV000150834RCV000150835RCV004760350RCV005430947

NM_004333.6(BRAF):c.1396G>A (p.Gly466Arg) SNV
Germline/somatic
Chr7:140781612 Pathogenic/Likely pathogenic Non-small cell lung carcinoma
Vascular malformation
Condition: not provided
Criteria Provided
Multiple Submitters
No Conflicts
CA135079 rs_121913353

3 SubmittersRCV000037915RCV004562228RCV005229855

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 SubmittersRCV000037931RCV000443573RCV002291550

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 SubmittersRCV000037934RCV001357636

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 SubmittersRCV000037935RCV002463625

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 SubmittersRCV000038258RCV000984128RCV004813050RCV004668757

NM_004985.5(KRAS):c.183A>T (p.Gln61His) SNV
Somatic
Chr12:25227341 Pathogenic Non-small cell lung carcinoma
Cerebral arteriovenous malformation
Vascular malformation
Criteria Provided
Single Submitter
CA135552 rs_17851045

3 SubmittersRCV000038259RCV003445113RCV005251049

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
KRAS-related disorder
12 conditions
Neoplasm
Lung cancer
Criteria Provided
Multiple Submitters
No Conflicts
CA135567 rs_121913529

8 SubmittersRCV000038266RCV000984117RCV001355876RCV001374446RCV004549454RCV004795958RCV004668758RCV003996396

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
Condition: not provided
KRAS-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA135570 rs_121913535

8 SubmittersRCV000038268RCV000144972RCV000681039RCV003335071

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 SubmittersRCV000038270RCV001355269

NM_004985.5(KRAS):c.39C>T (p.Gly13=) SNV
Germline/somatic
Chr12:25245346 Conflicting classifications of pathogenicity Non-small cell lung carcinoma
Condition: not provided
Prostate cancer, hereditary, 1
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA135576 rs_397517040

4 SubmittersRCV000038271RCV001357774RCV002291551RCV005348063

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 SubmittersRCV000038379RCV000114405

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 SubmittersRCV000038381RCV004668759

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 SubmittersRCV000038407RCV004668760

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 SubmittersRCV000038435RCV003996408

NM_006218.4(PIK3CA):c.3073A>G (p.Thr1025Ala) SNV
Germline/somatic
Chr3:179234230 Pathogenic/Likely pathogenic Non-small cell lung carcinoma
Condition: not provided
PIK3CA related overgrowth syndrome
CLOVES syndrome
Criteria Provided
Multiple Submitters
No Conflicts
CA136374 rs_397517202

5 SubmittersRCV000038673RCV002254274RCV003458194RCV001526503

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 SubmittersRCV000155959RCV000201237RCV000699681RCV001526545RCV002293423

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 SubmittersRCV000154399RCV000430462

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 SubmittersRCV000154398RCV001813396

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
RASopathy
Colorectal cancer
Cardiovascular phenotype
Condition: not provided
Neoplasm
Primary intracranial sarcoma, DICER1-mutant
Criteria Provided
Conflicting Classifications
CA180922 rs_17851045

8 SubmittersRCV000154530RCV001004043RCV002514970RCV005603602RCV002408686RCV002056053RCV004668811RCV004698422

NM_004985.5(KRAS):c.179G>T (p.Gly60Val) SNV
Germline/somatic
Chr12:25227345 Pathogenic/Likely pathogenic Non-small cell lung carcinoma
Noonan syndrome
Cardio-facio-cutaneous syndrome
Condition: not provided
RASopathy
Criteria Provided
Multiple Submitters
No Conflicts
CA176493 rs_727503108

5 SubmittersRCV000150889RCV000157936RCV000212500RCV001850055

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
Neoplasm
Extracranial arteriovenous malformation
Criteria Provided
Multiple Submitters
No Conflicts
CA16602453 rs_1057519729

5 SubmittersRCV000418731RCV002051704RCV002254296RCV005230288RCV005251122