Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)	SNV Germline/somatic	Chr17:31258500	Pathogenic	Neurofibromatosis, type 1 Condition: not provided Optic nerve glioma Neurofibroma Cafe au lait spots, multiple Axillary freckling Café-au-lait macules with pulmonary stenosis Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 Juvenile myelomonocytic leukemia Neurofibromatosis, familial spinal Cardiovascular phenotype Hereditary cancer-predisposing syndrome Pheochromocytoma Juvenile myelomonocytic leukemia	Criteria Provided Multiple Submitters No Conflicts	CA251440	rs_137854550	16 SubmittersRCV000000364 RCV000489593 RCV000626644 RCV000762990 RCV002310992 RCV002305424 RCV003460397
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter)	SNV Germline	Chr17:31334927	Pathogenic	Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 Juvenile myelomonocytic leukemia Neurofibromatosis, familial spinal Condition: not provided Neurofibromatosis, type 1 Tibial pseudarthrosis Juvenile myelomonocytic leukemia Cardiovascular phenotype Hereditary cancer-predisposing syndrome Neurofibromatosis-Noonan syndrome NF1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA325489	rs_137854552	18 SubmittersRCV000000371 RCV000492774 RCV000762995 RCV000418287 RCV001009602 RCV003460398 RCV004558221 RCV004562178 RCV004547450
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter)	SNV Germline/somatic	Chr17:31249093	Pathogenic	Neurofibromatosis, type 1 Condition: not provided Hereditary cancer-predisposing syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis-Noonan syndrome Juvenile myelomonocytic leukemia Neurofibromatosis, type 1 Neurofibromatosis, familial spinal	Criteria Provided Multiple Submitters No Conflicts	CA325494	rs_137854560	17 SubmittersRCV000000372 RCV000483061 RCV000492495 RCV002504730
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys)	SNV Germline	Chr17:31214524	Pathogenic	Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Condition: not provided Neurofibromatosis, type 1 Tibial pseudarthrosis Rhabdomyosarcoma Abnormality of the skin Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Café-au-lait macules with pulmonary stenosis Neurofibromatosis-Noonan syndrome Juvenile myelomonocytic leukemia Juvenile myelomonocytic leukemia	Criteria Provided Multiple Submitters No Conflicts	CA325499	rs_137854557	28 SubmittersRCV000000382 RCV000492667 RCV000757556 RCV001009573 RCV001257527 RCV001813925 RCV002504731 RCV003460400
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro)	SNV Germline	Chr17:31201044	Pathogenic/Likely pathogenic	Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Condition: not provided Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Juvenile myelomonocytic leukemia Neurofibromatosis, type 1	Criteria Provided Multiple Submitters No Conflicts	CA212552	rs_137854563	5 SubmittersRCV000000398 RCV000000399 RCV002476903 RCV002496218
NM_152594.3(SPRED1):c.349C>T (p.Arg117Ter)	SNV Germline	Chr15:38322382	Pathogenic	Legius syndrome Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype Neurodevelopmental delay Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA251949	rs_121434312	6 SubmittersRCV000001882 RCV001813180 RCV002336072 RCV002273919 RCV002225255
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)	SNV Germline	Chr10:110964362	Pathogenic	Noonan syndrome-like disorder with loose anagen hair 1 RASopathy Noonan syndrome Condition: not provided Noonan syndrome-like disorder with loose anagen hair Inborn genetic diseases Polycystic kidney disease 4 Noonan syndrome and Noonan-related syndrome Pectus excavatum Noonan syndrome-like disorder with loose anagen hair 1	Reviewed By Expert Panel	CA118524	rs_267607048	40 SubmittersRCV000007223 RCV000149834 RCV000208379 RCV000213000 RCV000853278 RCV000624656 RCV002221469 RCV001813181 RCV003330311
NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His)	SNV Germline	Chr19:4110559	Likely pathogenic	Cardio-facio-cutaneous syndrome Condition: not provided Cardiofaciocutaneous syndrome 4 RASopathy Noonan syndrome and Noonan-related syndrome MAP2K2-related disorder Noonan syndrome 1	Reviewed By Expert Panel	CA119417	rs_121434499	10 SubmittersRCV000008763 RCV000158022 RCV000043675 RCV000521479 RCV001813182 RCV003390660 RCV003450621
NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu)	SNV Germline/somatic	Chr11:14294844	Pathogenic	Noonan syndrome 12 Neoplasm of ovary Noonan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA120437	rs_113954997	4 SubmittersRCV000010054 RCV001072115 RCV000852398
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.178G>C (p.Gly60Arg)	SNV Germline	Chr12:25227346	Pathogenic	RASopathy Condition: not provided Cardio-facio-cutaneous syndrome Cardio-facio-cutaneous syndrome Noonan syndrome Inborn genetic diseases Noonan syndrome 3 Cardiofaciocutaneous syndrome 2	Reviewed By Expert Panel	CA273416	rs_104894359	9 SubmittersRCV000157935 RCV000254661 RCV000521390 RCV000844635 RCV001267316 RCV003313917 RCV000013416
NM_004985.5(KRAS):c.458A>T (p.Asp153Val)	SNV Germline	Chr12:25209904	Pathogenic	Cardiofaciocutaneous syndrome 2 Noonan syndrome 3 RASopathy Condition: not provided Noonan syndrome not specified 11 conditions Cardio-facio-cutaneous syndrome Noonan syndrome Noonan syndrome 1 Cardiovascular phenotype	Reviewed By Expert Panel	CA256478	rs_104894360	16 SubmittersRCV000013417 RCV000013418 RCV000157940 RCV000212501 RCV000523200 RCV000507330 RCV000763307 RCV000844634 RCV003450634 RCV004018621
NM_004985.5(KRAS):c.173C>T (p.Thr58Ile)	SNV Germline	Chr12:25227351	Pathogenic	Noonan syndrome 3 Condition: not provided Noonan syndrome RASopathy	Reviewed By Expert Panel	CA256480	rs_104894364	7 SubmittersRCV000013419 RCV000157933 RCV000211785 RCV000704828
NM_004985.5(KRAS):c.40G>A (p.Val14Ile)	SNV Germline/somatic	Chr12:25245345	Pathogenic	Noonan syndrome 3 Endometrial carcinoma RASopathy Condition: not provided Noonan syndrome Cardio-facio-cutaneous syndrome Noonan syndrome Noonan syndrome and Noonan-related syndrome Inborn genetic diseases	Reviewed By Expert Panel	CA156358	rs_104894365	19 SubmittersRCV000013420 RCV000119792 RCV000157945 RCV000212499 RCV000521254 RCV000844637 RCV001813184 RCV001266727
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg)	SNV Germline	Chr12:25245284	Pathogenic/Likely pathogenic	Cardiofaciocutaneous syndrome 2 Cardio-facio-cutaneous syndrome Noonan syndrome Condition: not provided Acute myeloid leukemia Noonan syndrome 3 Cardiofaciocutaneous syndrome 2 Autoimmune lymphoproliferative syndrome type 4 RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA280040	rs_104894366	6 SubmittersRCV000043674 RCV000211723 RCV000207495 RCV000850569 RCV001851825
NM_033360.4(KRAS):c.*9T>G	SNV Germline	Chr12:25209907	Pathogenic	Noonan syndrome 3	No Assertion Criteria Provided	CA256482	rs_104894367	1 SubmittersRCV000013422
NM_033360.4(KRAS):c.15A>T (p.Lys5Asn)	SNV Germline	Chr12:25245370	Pathogenic	Cardiofaciocutaneous syndrome 2 Condition: not provided Inborn genetic diseases Noonan syndrome	Reviewed By Expert Panel	CA234191	rs_104894361	4 SubmittersRCV000013425 RCV000153427 RCV000623267 RCV000520745
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu)	SNV Germline	Chr12:25245372	Pathogenic/Likely pathogenic	Noonan syndrome 3 RASopathy Noonan syndrome Condition: not provided Prostate cancer, hereditary, 1 KRAS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA250291	rs_193929331	10 SubmittersRCV000013427 RCV000149836 RCV000605141 RCV000364781 RCV002291547 RCV004549360
NM_033360.4(KRAS):c.178G>A (p.Gly60Ser)	SNV Germline	Chr12:25227346	Pathogenic	Noonan syndrome 3 Condition: not provided RASopathy Cardiofaciocutaneous syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA256484	rs_104894359	6 SubmittersRCV000013428 RCV000157934 RCV000689097 RCV002470709
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys)	SNV Germline/somatic	Chr11:533875	Pathogenic/Likely pathogenic	Thyroid cancer, nonmedullary, 2 Spermatocytic seminoma Noonan syndrome 3 Breast neoplasm Lip and oral cavity carcinoma Condition: not provided Epidermal nevus	Criteria Provided Multiple Submitters No Conflicts	CA122547	rs_28933406	6 SubmittersRCV000013434 RCV000022795 RCV000587258 RCV000439343 RCV001255683 RCV000681435 RCV004562206
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)	SNV Germline/somatic	Chr11:534289	Pathogenic	Costello syndrome Myopathy, congenital, with excess of muscle spindles Epidermal nevus with urothelial cancer, somatic Condition: not provided Nevus sebaceous RASopathy Breast neoplasm Transitional cell carcinoma of the bladder Myelodysplastic syndrome Adenoid cystic carcinoma Carcinoma of esophagus Uterine carcinosarcoma Thyroid tumor Papillary renal cell carcinoma, sporadic Squamous cell carcinoma of the skin Nasopharyngeal neoplasm Multiple myeloma Neoplasm of the large intestine Malignant neoplasm of body of uterus Pancreatic adenocarcinoma Neoplasm of uterine cervix Malignant melanoma of skin Lung adenocarcinoma Acute myeloid leukemia Gastric adenocarcinoma Squamous cell carcinoma of the head and neck Prostate adenocarcinoma Ovarian serous cystadenocarcinoma Glioblastoma Hepatocellular carcinoma Wooly hair nevus Rhabdomyosarcoma Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype Lip and oral cavity carcinoma See cases HRAS-related disorder Noonan syndrome 1 Epidermal nevus	Reviewed By Expert Panel	CA122549	rs_104894229	40 SubmittersRCV000013435 RCV000013436 RCV000022796 RCV000081295 RCV000029209 RCV000149828 RCV000430608 RCV000435163 RCV000440863 RCV000440993 RCV000445039 RCV000417494 RCV000425542 RCV000432342 RCV000432945 RCV000422253 RCV000440297 RCV000443940 RCV000430725 RCV000433576 RCV000438022 RCV000419709 RCV000420366 RCV000422656 RCV000423310 RCV000424896 RCV000427772 RCV000430011 RCV000432984 RCV000440237 RCV000487471 RCV001257537 RCV001813185 RCV002453256 RCV001255689 RCV003156059 RCV003398496 RCV003450635 RCV003450636
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)	SNV Germline/somatic	Chr11:534288	Pathogenic	Costello syndrome Adenoid cystic carcinoma Neoplasm of the large intestine Papillary renal cell carcinoma, sporadic Malignant melanoma of skin Squamous cell carcinoma of the skin Malignant neoplasm of body of uterus Ovarian serous cystadenocarcinoma Condition: not provided Glioblastoma Transitional cell carcinoma of the bladder Gastric adenocarcinoma Nasopharyngeal neoplasm Neoplasm of uterine cervix Multiple myeloma Hepatocellular carcinoma Pancreatic adenocarcinoma Thyroid tumor Prostate adenocarcinoma Carcinoma of esophagus Uterine carcinosarcoma Inborn genetic diseases Squamous cell carcinoma of the head and neck 6 conditions Breast neoplasm Acute myeloid leukemia Myelodysplastic syndrome Lung adenocarcinoma Noonan syndrome and Noonan-related syndrome Rhabdomyosarcoma	Criteria Provided Multiple Submitters No Conflicts	CA256486	rs_104894230	10 SubmittersRCV000013437 RCV000418547 RCV000422263 RCV000430806 RCV000417508 RCV000435619 RCV000423413 RCV000423622 RCV000207503 RCV000440663 RCV000425989 RCV000426130 RCV000428375 RCV000441501 RCV000444092 RCV000433266 RCV000445257 RCV000428172 RCV000433587 RCV000423741 RCV000425511 RCV000623953 RCV000432956 RCV000762848 RCV000435805 RCV000436832 RCV000442448 RCV000445090 RCV001813186 RCV001257536
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp)	SNV Germline/somatic	Chr11:534285	Pathogenic	Costello syndrome Condition: not provided Neoplasm of the large intestine RASopathy Non-immune hydrops fetalis Noonan syndrome and Noonan-related syndrome HRAS-related disorder 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA256488	rs_104894226	14 SubmittersRCV000013438 RCV000157913 RCV000439514 RCV000781469 RCV001376018 RCV001813187 RCV003390677 RCV002476960
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)	SNV Germline/somatic	Chr11:534286	Pathogenic	Costello syndrome RASopathy Breast neoplasm Pancreatic adenocarcinoma Condition: not provided Acute myeloid leukemia Neoplasm of the large intestine Neoplasm of uterine cervix Squamous cell carcinoma of the head and neck Multiple myeloma Malignant melanoma of skin Gastric adenocarcinoma Lung adenocarcinoma Neoplasm Thyroid tumor Hepatocellular carcinoma Squamous cell lung carcinoma B-cell chronic lymphocytic leukemia Transitional cell carcinoma of the bladder Malignant neoplasm of body of uterus Squamous cell carcinoma of the skin 6 conditions Noonan syndrome Noonan syndrome and Noonan-related syndrome HRAS-related disorder	Reviewed By Expert Panel	CA295247	rs_104894228	17 SubmittersRCV000013440 RCV000149831 RCV000424247 RCV000425964 RCV000207504 RCV000433893 RCV000444110 RCV000445225 RCV000423190 RCV000417661 RCV000426653 RCV000439052 RCV000420958 RCV000439954 RCV000428812 RCV000445336 RCV000431688 RCV000434069 RCV000436007 RCV000436205 RCV000441514 RCV000762847 RCV000678903 RCV001813188 RCV003421918
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp)	SNV Germline/somatic	Chr11:534288	Pathogenic/Likely pathogenic	Costello syndrome, severe Nevus sebaceous Costello syndrome RASopathy Condition: not provided Breast neoplasm Non-immune hydrops fetalis Noonan syndrome and Noonan-related syndrome Lip and oral cavity carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA122555	rs_104894230	13 SubmittersRCV000013446 RCV000029210 RCV000038460 RCV000149830 RCV000212496 RCV000429375 RCV001375956 RCV001813189 RCV001255681
NM_005633.4(SOS1):c.797C>A (p.Thr266Lys)	SNV Germline	Chr2:39051211	Pathogenic	Noonan syndrome 4 Noonan syndrome RASopathy Condition: not provided Fibromatosis, gingival, 1 Noonan syndrome 4 Noonan syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA256578	rs_137852812	10 SubmittersRCV000013729 RCV000038570 RCV000149833 RCV000213007 RCV000515403 RCV003450637
NM_005633.4(SOS1):c.806T>G (p.Met269Arg)	SNV Germline	Chr2:39051202	Pathogenic	Noonan syndrome 4 Condition: not provided Noonan syndrome RASopathy Noonan syndrome 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA235346	rs_137852813	13 SubmittersRCV000013730 RCV000157691 RCV000211854 RCV000554031 RCV000856805 RCV002415412
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly)	SNV Germline	Chr2:39022774	Pathogenic	Noonan syndrome 4 Noonan syndrome Condition: not provided RASopathy Fibromatosis, gingival, 1 Noonan syndrome 4 Cardiovascular phenotype	Reviewed By Expert Panel	CA235350	rs_137852814	25 SubmittersRCV000013731 RCV000156980 RCV000157693 RCV000159174 RCV000515160 RCV002399321
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser)	SNV Germline	Chr2:39022772	Pathogenic	Condition: not provided Noonan syndrome RASopathy Noonan syndrome 4 Fibromatosis, gingival, 1 Noonan syndrome and Noonan-related syndrome Noonan syndrome 1 Noonan syndrome 4	Reviewed By Expert Panel	CA256580	rs_267607079	13 SubmittersRCV000159177 RCV000156992 RCV000654947 RCV000763086 RCV000787998 RCV000856746 RCV000013732
NM_005633.4(SOS1):c.1294T>C (p.Trp432Arg)	SNV Germline	Chr2:39023134	Pathogenic	Noonan syndrome 4 Condition: not provided Noonan syndrome RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA256582	rs_267607080	8 SubmittersRCV000013733 RCV000159161 RCV000211853 RCV000818949
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser)	SNV Germline	Chr12:112450394	Pathogenic	Noonan syndrome 1 RASopathy Noonan syndrome Condition: not provided Noonan syndrome 1 LEOPARD syndrome 1 Metachondromatosis Juvenile myelomonocytic leukemia Noonan syndrome 1 LEOPARD syndrome 1 Noonan syndrome and Noonan-related syndrome	Criteria Provided Multiple Submitters No Conflicts	CA256749	rs_121918453	16 SubmittersRCV000014252 RCV000033471 RCV000157001 RCV000212890 RCV000576667 RCV000762883 RCV001813190
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)	SNV Germline	Chr12:112450395	Pathogenic/Likely pathogenic	Noonan syndrome 1 Noonan syndrome Condition: not provided Juvenile myelomonocytic leukemia Noonan syndrome 1 LEOPARD syndrome 1 Metachondromatosis RASopathy Noonan syndrome 3 Cardiovascular phenotype Noonan syndrome and Noonan-related syndrome	Criteria Provided Multiple Submitters No Conflicts	CA235319	rs_121918454	19 SubmittersRCV000014253 RCV000157006 RCV000157679 RCV000515213 RCV000707460 RCV000587329 RCV002426502 RCV001813191
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	SNV Germline	Chr12:112477719	Pathogenic	Noonan syndrome 1 RASopathy Condition: not provided Noonan syndrome Metachondromatosis Juvenile myelomonocytic leukemia Noonan syndrome 1 LEOPARD syndrome 1 Noonan syndrome 1 LEOPARD syndrome 1 Cardiovascular phenotype Metachondromatosis Noonan syndrome 1 LEOPARD syndrome 1 not specified Thrombocytopenia Abnormal bleeding LEOPARD syndrome 1 Hereditary cancer-predisposing syndrome Noonan syndrome and Noonan-related syndrome Metachondromatosis PTPN11-related disorder Male infertility with azoospermia or oligozoospermia due to single gene mutation	Reviewed By Expert Panel	CA220158	rs_28933386	67 SubmittersRCV000014254 RCV000033516 RCV000077863 RCV000156977 RCV000515324 RCV000576594 RCV000621227 RCV000850589 RCV000999988 RCV001270562 RCV001253546 RCV001293867 RCV001813192 RCV003147284 RCV004541002 RCV003991568
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)	SNV Germline	Chr12:112477720	Pathogenic	Noonan syndrome 1 RASopathy Noonan syndrome Condition: not provided Noonan syndrome 3 Metachondromatosis Juvenile myelomonocytic leukemia Noonan syndrome 1 LEOPARD syndrome 1 LEOPARD syndrome 1 Noonan syndrome 1 LEOPARD syndrome 1 Noonan syndrome and Noonan-related syndrome PTPN11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA235328	rs_121918455	36 SubmittersRCV000014255 RCV000033518 RCV000037669 RCV000157682 RCV000588570 RCV000515421 RCV001197417 RCV001027696 RCV001813193 RCV004532339
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)	SNV Germline	Chr12:112473023	Pathogenic/Likely pathogenic	RASopathy LEOPARD syndrome 1 Noonan syndrome with multiple lentigines Condition: not provided Noonan syndrome 1 CBL-related disorder Cardiovascular phenotype not specified Metachondromatosis Juvenile myelomonocytic leukemia Noonan syndrome 1 LEOPARD syndrome 1 Noonan syndrome with multiple lentigines Noonan syndrome Noonan syndrome and Noonan-related syndrome PTPN11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA220149	rs_121918456	30 SubmittersRCV000033504 RCV000055890 RCV000030620 RCV000077859 RCV000577894 RCV000492270 RCV000617951 RCV001000775 RCV000768062 RCV000824744 RCV001813194 RCV004528108
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)	SNV Germline	Chr12:112450364	Pathogenic	Noonan syndrome 1 RASopathy Condition: not provided Noonan syndrome 6 conditions Metachondromatosis Juvenile myelomonocytic leukemia Noonan syndrome 1 LEOPARD syndrome 1 Juvenile myelomonocytic leukemia Noonan syndrome Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype PTPN11-related disorder	Reviewed By Expert Panel	CA234749	rs_121918460	24 SubmittersRCV000014257 RCV000033466 RCV000153794 RCV000156993 RCV000590972 RCV000762882 RCV000824739 RCV001813195 RCV002408460 RCV004532340
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)	SNV Germline	Chr12:112450362	Pathogenic	Noonan syndrome 1 RASopathy Condition: not provided Noonan syndrome Short stature Abnormal cardiovascular system morphology Juvenile myelomonocytic leukemia Noonan syndrome LEOPARD syndrome 1 Non-immune hydrops fetalis Noonan syndrome and Noonan-related syndrome Metachondromatosis Juvenile myelomonocytic leukemia Noonan syndrome 1 LEOPARD syndrome 1 Metachondromatosis PTPN11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA177665	rs_121918461	22 SubmittersRCV000014258 RCV000033464 RCV000077856 RCV000156984 RCV000626829 RCV000824738 RCV001270166 RCV001376030 RCV001813196 RCV002490363 RCV003147285 RCV004532341
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)	SNV Germline	Chr12:112488466	Pathogenic	LEOPARD syndrome 1 RASopathy Noonan syndrome 1 Noonan syndrome Condition: not provided Noonan syndrome with multiple lentigines Metachondromatosis Juvenile myelomonocytic leukemia Noonan syndrome 1 LEOPARD syndrome 1 PTPN11-related disorder Hypertrophic cardiomyopathy Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype	Reviewed By Expert Panel	CA220134	rs_121918457	37 SubmittersRCV000055884 RCV000033533 RCV000106323 RCV000157014 RCV000077851 RCV000208002 RCV000515406 RCV000723326 RCV000853462 RCV001813197 RCV002390104
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr)	SNV Germline	Chr12:112489080	Pathogenic	Noonan syndrome 1 Juvenile myelomonocytic leukemia Noonan syndrome Noonan syndrome Condition: not provided RASopathy Metachondromatosis Juvenile myelomonocytic leukemia Noonan syndrome 1 LEOPARD syndrome 1 PTPN11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA180739	rs_121918458	11 SubmittersRCV000014260 RCV000033543 RCV000156995 RCV000212897 RCV001851849 RCV002490364 RCV004532342
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	SNV Germline	Chr12:112450368	Pathogenic	Noonan syndrome 1 RASopathy Condition: not provided Noonan syndrome Metachondromatosis Juvenile myelomonocytic leukemia Noonan syndrome 1 LEOPARD syndrome 1 Noonan syndrome 3 Lymphoma B lymphoblastic leukemia lymphoma, no ICD-O subtype Metachondromatosis Noonan syndrome 1 LEOPARD syndrome 1 Noonan syndrome and Noonan-related syndrome Metachondromatosis LEOPARD syndrome 1 PTPN11-related disorder	Reviewed By Expert Panel	CA220146	rs_121918459	43 SubmittersRCV000014261 RCV000033468 RCV000077857 RCV000157000 RCV000515408 RCV000588678 RCV000722014 RCV001249667 RCV001813198 RCV003147286 RCV003137518 RCV004528109
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile)	SNV Germline	Chr12:112450398	Pathogenic	Noonan syndrome 1 RASopathy Noonan syndrome Condition: not provided Juvenile myelomonocytic leukemia Noonan syndrome 1 LEOPARD syndrome 1 Metachondromatosis Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype LEOPARD syndrome 1 Metachondromatosis	Criteria Provided Multiple Submitters No Conflicts	CA256752	rs_121918462	18 SubmittersRCV000014262 RCV000033475 RCV000156985 RCV000212891 RCV000515312 RCV001813199 RCV002415414 RCV003147288 RCV003147287
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser)	SNV Germline/somatic	Chr12:112477651	Pathogenic	Noonan syndrome 1 Noonan syndrome Condition: not provided Early T cell progenitor acute lymphoblastic leukemia RASopathy Non-immune hydrops fetalis Noonan syndrome and Noonan-related syndrome PTPN11-related disorder LEOPARD syndrome 1 Metachondromatosis	Criteria Provided Multiple Submitters No Conflicts	CA204408	rs_121918463	25 SubmittersRCV000014263 RCV000037663 RCV000077862 RCV000190417 RCV000458650 RCV001376066 RCV001813200 RCV004532343 RCV004562208 RCV004562207
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys)	SNV Germline/somatic	Chr12:112450406	Conflicting classifications of pathogenicity	Juvenile myelomonocytic leukemia RASopathy Noonan syndrome Condition: not provided Squamous cell lung carcinoma Neuroblastoma Astrocytoma Multiple myeloma Neoplasm of the large intestine Malignant neoplastic disease PTPN11-related disorder	Criteria Provided Conflicting Classifications	CA123038	rs_121918464	11 SubmittersRCV000014264 RCV000033476 RCV000156974 RCV000212892 RCV000433549 RCV000422541 RCV000432364 RCV000422851 RCV000439757 RCV001254876 RCV004545728
NM_002834.5(PTPN11):c.227A>T (p.Glu76Val)	SNV Germline/somatic	Chr12:112450407	Pathogenic	Juvenile myelomonocytic leukemia RASopathy Condition: not provided Noonan syndrome and Noonan-related syndrome	Criteria Provided Multiple Submitters No Conflicts	CA123041	rs_121918465	6 SubmittersRCV000014265 RCV000781775 RCV000788241 RCV001813201
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)	SNV Germline	Chr12:112450416	Pathogenic	Noonan syndrome 1 RASopathy Noonan syndrome Condition: not provided Noonan syndrome 3 Metachondromatosis Juvenile myelomonocytic leukemia Noonan syndrome 1 LEOPARD syndrome 1 Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype PTPN11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA235322	rs_121918466	28 SubmittersRCV000014268 RCV000033480 RCV000037641 RCV000157680 RCV000590740 RCV000515381 RCV001813202 RCV002453257 RCV004532344
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr)	SNV Germline	Chr12:112488444	Conflicting classifications of pathogenicity	Condition: not provided LEOPARD syndrome 1 Noonan syndrome with multiple lentigines RASopathy Noonan syndrome 1 not specified PTPN11-related disorder	Criteria Provided Conflicting Classifications	CA261534	rs_121918468	12 SubmittersRCV000033530 RCV000055882 RCV000037611 RCV000529342 RCV001089941 RCV001002017 RCV004532345
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala)	SNV Germline	Chr12:112488454	Pathogenic	RASopathy LEOPARD syndrome 1 Condition: not provided Noonan syndrome with multiple lentigines Noonan syndrome Noonan syndrome 1 Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype PTPN11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA220131	rs_121918469	18 SubmittersRCV000033531 RCV000055883 RCV000077850 RCV000824746 RCV001281363 RCV001813203 RCV002390105 RCV004532346
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro)	SNV Germline	Chr12:112489105	Pathogenic	LEOPARD syndrome 1 RASopathy Condition: not provided Noonan syndrome with multiple lentigines Noonan syndrome 3 Noonan syndrome with multiple lentigines Noonan syndrome Noonan syndrome 1 Noonan syndrome 1 LEOPARD syndrome 1 PTPN11-related disorder	Reviewed By Expert Panel	CA256758	rs_121918470	15 SubmittersRCV000014272 RCV000033554 RCV000210036 RCV000520822 RCV000586289 RCV000824752 RCV001254107 RCV002286696 RCV004541003
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg)	SNV Germline	Chr12:112489105	Pathogenic/Likely pathogenic	Noonan syndrome 1 Condition: not provided LEOPARD syndrome 1 RASopathy Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA256761	rs_121918470	10 SubmittersRCV000014273 RCV000414743 RCV001002770 RCV000780654 RCV004018624
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)	SNV Germline	Chr12:112419116	Pathogenic/Likely pathogenic	Noonan syndrome 1 Condition: not provided Noonan syndrome RASopathy Metachondromatosis See cases Juvenile myelomonocytic leukemia Noonan syndrome 1 LEOPARD syndrome 1 Metachondromatosis	Criteria Provided Multiple Submitters No Conflicts	CA256764	rs_267606990	18 SubmittersRCV000014277 RCV000033445 RCV000211847 RCV000694389 RCV000988912 RCV003156060 RCV002496356
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)	SNV Germline	Chr15:66436843	Pathogenic	Cardiofaciocutaneous syndrome 3 Cardio-facio-cutaneous syndrome Condition: not provided RASopathy Inborn genetic diseases Noonan syndrome 1 Cardiofaciocutaneous syndrome 3 Melorheostosis MAP2K1-related disorder Noonan syndrome 1	Reviewed By Expert Panel	CA280036	rs_121908595	31 SubmittersRCV000043672 RCV000208757 RCV000207506 RCV000541525 RCV000623321 RCV000763362 RCV001197351 RCV004532347 RCV003450638
NM_005188.4(CBL):c.1100A>C (p.Gln367Pro)	SNV Germline	Chr11:119278170	Pathogenic/Likely pathogenic	Condition: not provided RASopathy Inborn genetic diseases CBL-related disorder Noonan syndrome and Noonan-related syndrome Noonan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA123484	rs_267606704	12 SubmittersRCV000033352 RCV000702464 RCV001266923 RCV001353389 RCV001813204 RCV004017245
NM_005188.4(CBL):c.1111T>C (p.Tyr371His)	SNV Germline/somatic	Chr11:119278181	Pathogenic	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Condition: not provided RASopathy Hematologic neoplasm See cases CBL-related disorder Juvenile myelomonocytic leukemia CBL-related disorder Juvenile myelomonocytic leukemia	Criteria Provided Multiple Submitters No Conflicts	CA123492	rs_267606706	13 SubmittersRCV000014822 RCV000441724 RCV000691502 RCV000437548 RCV002274879 RCV003387502 RCV003315401 RCV001527385
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg)	SNV Germline/somatic	Chr1:114716124	Likely pathogenic	Carcinoma of colon Large congenital melanocytic nevus Medulloblastoma Transitional cell carcinoma of the bladder Gastric adenocarcinoma Melanoma Multiple myeloma Myelodysplastic syndrome Non-Hodgkin lymphoma Acute myeloid leukemia Neoplasm of the large intestine Malignant melanoma of skin Noonan syndrome 6	Criteria Provided Single Submitter	CA151261	rs_121434595	4 SubmittersRCV000014913 RCV000114743 RCV000419545 RCV000419583 RCV000427817 RCV000424942 RCV000426328 RCV000428963 RCV000437450 RCV000438070 RCV000434327 RCV000444449 RCV001781267
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_002524.5(NRAS):c.38G>A (p.Gly13Asp)	SNV Germline/somatic	Chr1:114716123	Pathogenic/Likely pathogenic	Juvenile myelomonocytic leukemia Noonan syndrome 6 Autoimmune lymphoproliferative syndrome type 4 Condition: not provided Myelodysplastic syndrome Gastric adenocarcinoma Multiple myeloma Medulloblastoma Neoplasm of the large intestine Acute myeloid leukemia Transitional cell carcinoma of the bladder Malignant melanoma of skin Melanoma Non-Hodgkin lymphoma Acute megakaryoblastic leukemia in down syndrome	Criteria Provided Multiple Submitters No Conflicts	CA123620	rs_121434596	6 SubmittersRCV000014915 RCV000022690 RCV000144962 RCV000157672 RCV000431528 RCV000430350 RCV000433031 RCV000421906 RCV000440593 RCV000440357 RCV000421229 RCV000422699 RCV000431020 RCV000442419 RCV001293767
NM_002524.5(NRAS):c.149C>T (p.Thr50Ile)	SNV Germline	Chr1:114713941	Pathogenic	Noonan syndrome 6 Noonan syndrome Noonan syndrome 1 RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA257019	rs_267606921	5 SubmittersRCV000014916 RCV000211835 RCV000208537 RCV000463185
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu)	SNV Germline	Chr1:114713911	Pathogenic	Noonan syndrome 6 Condition: not provided Noonan syndrome 1 RASopathy NRAS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA257021	rs_267606920	7 SubmittersRCV000014917 RCV000158982 RCV000208552 RCV001382056 RCV003415702
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)	SNV Germline/somatic	Chr3:12604200	Pathogenic	Noonan syndrome 5 LEOPARD syndrome 2 Noonan syndrome with multiple lentigines Noonan syndrome Condition: not provided RASopathy Lung adenocarcinoma Neoplasm of the large intestine Gastric adenocarcinoma Malignant melanoma of skin Dilated cardiomyopathy 1NN Noonan syndrome 5 LEOPARD syndrome 2 Noonan syndrome with multiple lentigines Noonan syndrome Noonan syndrome 1 RAF1-related disorder Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype See cases	Reviewed By Expert Panel	CA235334	rs_80338796	38 SubmittersRCV000014985 RCV000014986 RCV000020509 RCV000157426 RCV000157685 RCV000149826 RCV000418940 RCV000436233 RCV000428775 RCV000435984 RCV000515222 RCV000824754 RCV000856803 RCV001731288 RCV001813205 RCV002399323 RCV003231105
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser)	SNV Germline/somatic	Chr3:12604189	Pathogenic	Noonan syndrome 5 Condition: not provided Primary familial hypertrophic cardiomyopathy Noonan syndrome RASopathy Cardiovascular phenotype Inborn genetic diseases Noonan syndrome 1 Noonan syndrome and Noonan-related syndrome	Reviewed By Expert Panel	CA257062	rs_121434594	13 SubmittersRCV000014987 RCV000159076 RCV000208421 RCV000211849 RCV000468714 RCV000618568 RCV000622893 RCV003450640 RCV001813206
NM_002880.4(RAF1):c.1472C>G (p.Thr491Arg)	SNV Germline	Chr3:12585745	Likely pathogenic	Noonan syndrome 5 Condition: not provided RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA257064	rs_80338799	3 SubmittersRCV000014988 RCV000680803 RCV001229313
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val)	SNV Germline/somatic	Chr3:12584624	Pathogenic	Noonan syndrome 5 LEOPARD syndrome 2 Noonan syndrome with multiple lentigines RASopathy Condition: not provided Noonan syndrome Noonan syndrome with multiple lentigines Noonan syndrome Hypertrophic cardiomyopathy 1 RAF1-related disorder	Reviewed By Expert Panel	CA257066	rs_80338797	12 SubmittersRCV000014990 RCV000014989 RCV000020508 RCV000159089 RCV000254689 RCV000440827 RCV000824753 RCV001256891 RCV004532353
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu)	SNV Germline/somatic	Chr7:140781617	Pathogenic	Carcinoma of colon RASopathy Condition: not provided Neoplasm Noonan syndrome Cardio-facio-cutaneous syndrome B-cell chronic lymphocytic leukemia Cardio-facio-cutaneous syndrome	Reviewed By Expert Panel	CA250636	rs_121913348	8 SubmittersRCV000014997 RCV000033304 RCV000207512 RCV000418719 RCV000844618 RCV000436895 RCV001261044
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro)	SNV Germline	Chr7:140801536	Pathogenic	Cardiofaciocutaneous syndrome 1 Noonan syndrome Cardio-facio-cutaneous syndrome Cardio-facio-cutaneous syndrome Condition: not provided Noonan syndrome RASopathy Noonan syndrome 1 Noonan syndrome 7	Reviewed By Expert Panel	CA279968	rs_180177034	11 SubmittersRCV000014998 RCV000033285 RCV000208416 RCV000235118 RCV000678900 RCV001047900 RCV003150930 RCV003338381
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.770A>G (p.Gln257Arg)	SNV Germline	Chr7:140801502	Pathogenic	Cardiofaciocutaneous syndrome 1 RASopathy Condition: not provided Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 1 LEOPARD syndrome 3 Noonan syndrome 7 Noonan syndrome 7 LEOPARD syndrome 3 Noonan syndrome and Noonan-related syndrome Noonan syndrome 1 6 conditions Cardiovascular phenotype	Reviewed By Expert Panel	CA222583	rs_180177035	30 SubmittersRCV000015007 RCV000033289 RCV000080904 RCV000208766 RCV001027771 RCV001261967 RCV001329219 RCV001813208 RCV001813744 RCV003224098 RCV004018628
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)	SNV Germline/somatic	Chr7:140781602	Pathogenic	Cardiofaciocutaneous syndrome 1 RASopathy Condition: not provided Cardio-facio-cutaneous syndrome Squamous cell lung carcinoma Melanoma Malignant melanoma of skin Transitional cell carcinoma of the bladder Squamous cell carcinoma of the skin Neoplasm of the large intestine Prostate adenocarcinoma Lung adenocarcinoma Multiple myeloma not specified Noonan syndrome and Noonan-related syndrome Noonan syndrome 7 Noonan syndrome 1	Reviewed By Expert Panel	CA279970	rs_121913355	18 SubmittersRCV000015008 RCV000033307 RCV000212152 RCV000211748 RCV000427006 RCV000427215 RCV000419555 RCV000419576 RCV000437869 RCV000424773 RCV000434590 RCV000436804 RCV000443381 RCV000506575 RCV001813209 RCV002287336 RCV003450641
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe)	SNV Germline	Chr7:140778053	Pathogenic	Cardiofaciocutaneous syndrome 1 Cardio-facio-cutaneous syndrome Cardio-facio-cutaneous syndrome Noonan syndrome Condition: not provided RASopathy Ataxia-telangiectasia syndrome BRAF-related disorder Cardiovascular phenotype	Reviewed By Expert Panel	CA273414	rs_180177036	13 SubmittersRCV000015009 RCV000208764 RCV000211749 RCV000680805 RCV001172276 RCV001849264 RCV003415705 RCV004018629
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu)	SNV Germline	Chr7:140778013	Pathogenic/Likely pathogenic	Cardiofaciocutaneous syndrome 1 Condition: not provided RASopathy Noonan syndrome and Noonan-related syndrome	Criteria Provided Multiple Submitters No Conflicts	CA279972	rs_180177037	8 SubmittersRCV000015010 RCV000207517 RCV000779848 RCV001813210
NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys)	SNV Germline	Chr7:140778007	Pathogenic/Likely pathogenic	Cardiofaciocutaneous syndrome 1 RASopathy Condition: not provided Cardio-facio-cutaneous syndrome Noonan syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA273130	rs_180177038	7 SubmittersRCV000015011 RCV000033315 RCV000207513 RCV000844616 RCV004018630
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp)	SNV Germline	Chr7:140754187	Pathogenic	Cardiofaciocutaneous syndrome 1 Condition: not provided Cardio-facio-cutaneous syndrome RASopathy Noonan syndrome 1 Cardiovascular phenotype	Reviewed By Expert Panel	CA279976	rs_180177040	16 SubmittersRCV000015013 RCV000033329 RCV000211751 RCV000474979 RCV003450642 RCV004018631
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)	SNV Germline	Chr7:140749365	Pathogenic/Likely pathogenic	Cardiofaciocutaneous syndrome 1 Condition: not provided Inborn genetic diseases Noonan syndrome 1 LEOPARD syndrome 3 Noonan syndrome 7 Lung carcinoma Cardiofaciocutaneous syndrome 1 RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA279981	rs_180177042	10 SubmittersRCV000015015 RCV000033337 RCV000622900 RCV000763164 RCV001851863
NM_002880.4(RAF1):c.1472C>T (p.Thr491Ile)	SNV Germline/somatic	Chr3:12585745	Pathogenic	Noonan syndrome with multiple lentigines Noonan syndrome Cardiovascular phenotype Condition: not provided RASopathy	Reviewed By Expert Panel	CA261612	rs_80338799	7 SubmittersRCV000020507 RCV000037676 RCV000621393 RCV000159086 RCV000523483
NM_004333.6(BRAF):c.722C>T (p.Thr241Met)	SNV Germline	Chr7:140801550	Pathogenic/Likely pathogenic	Noonan syndrome 7 Condition: not provided Noonan syndrome 1 Noonan syndrome Noonan syndrome 7 LEOPARD syndrome 3 Noonan syndrome 1 Cardiofaciocutaneous syndrome 1 Lung carcinoma RASopathy Cardiofaciocutaneous syndrome 1 Cardio-facio-cutaneous syndrome BRAF-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA259660	rs_387906660	18 SubmittersRCV000022678 RCV000033281 RCV000208540 RCV000211753 RCV000515432 RCV000545320 RCV001329218 RCV003230371 RCV003398558
NM_004333.6(BRAF):c.722C>G (p.Thr241Arg)	SNV Germline	Chr7:140801550	Pathogenic	Noonan syndrome 7 Noonan syndrome 1 Inborn genetic diseases Condition: not provided RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA259663	rs_387906660	5 SubmittersRCV000022679 RCV000208548 RCV000624512 RCV001703420 RCV002513171
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro)	SNV Germline	Chr7:140801551	Pathogenic/Likely pathogenic	Cardiofaciocutaneous syndrome 1 LEOPARD syndrome 3 Noonan syndrome with multiple lentigines Cardio-facio-cutaneous syndrome Condition: not provided LEOPARD syndrome 3 Noonan syndrome 7 Cardiofaciocutaneous syndrome 1 Noonan syndrome 1 Lung carcinoma RASopathy LEOPARD syndrome 3 Noonan syndrome 7 Cardiofaciocutaneous syndrome 1 Noonan syndrome 7	Criteria Provided Multiple Submitters No Conflicts	CA128663	rs_387906661	10 SubmittersRCV000022680 RCV000022681 RCV000055896 RCV000211752 RCV000207516 RCV000515363 RCV000654966 RCV001089761 RCV002288517
NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys)	SNV Germline	Chr7:140777013	Pathogenic	Noonan syndrome 7 Noonan syndrome 1 RASopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA250333	rs_606231228	4 SubmittersRCV000022682 RCV000208560 RCV000191066 RCV001781297
NM_005188.4(CBL):c.1150T>C (p.Cys384Arg)	SNV Germline/somatic	Chr11:119278220	Conflicting classifications of pathogenicity	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Hematologic neoplasm Condition: not provided RASopathy	Criteria Provided Conflicting Classifications	CA128665	rs_387906664	4 SubmittersRCV000022698 RCV000420743 RCV001561040 RCV001857355
NM_005188.4(CBL):c.1186T>C (p.Cys396Arg)	SNV Germline	Chr11:119278256	Conflicting classifications of pathogenicity	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Condition: not provided RASopathy	Criteria Provided Conflicting Classifications	CA128668	rs_387906665	3 SubmittersRCV000022699 RCV000157860 RCV002513172
NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe)	SNV Germline	Chr17:31258401	Pathogenic/Likely pathogenic	Neurofibromatosis-Noonan syndrome Condition: not provided Neurofibromatosis, type 1	Criteria Provided Multiple Submitters No Conflicts	CA129599	rs_199474789	8 SubmittersRCV000023983 RCV000059194 RCV000195735
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg)	SNV Germline/somatic	Chr11:534286	Pathogenic/Likely pathogenic	Linear nevus sebaceous syndrome Nevus sebaceous Epidermal nevus SPITZ NEVUS, SOMATIC NEVUS SPILUS, SOMATIC Malignant neoplasm of body of uterus Pancreatic adenocarcinoma Malignant melanoma of skin Transitional cell carcinoma of the bladder Multiple myeloma Thyroid tumor B-cell chronic lymphocytic leukemia Neoplasm of the large intestine Breast neoplasm Acute myeloid leukemia Gastric adenocarcinoma Squamous cell carcinoma of the head and neck Squamous cell lung carcinoma Hepatocellular carcinoma Squamous cell carcinoma of the skin Lung adenocarcinoma Neoplasm of uterine cervix Costello syndrome Noonan syndrome and Noonan-related syndrome Lip and oral cavity carcinoma Non-immune hydrops fetalis cutaneous-skeletal hypophosphatemia syndrome Epidermolytic nevus	Criteria Provided Multiple Submitters No Conflicts	CA129950	rs_104894228	10 SubmittersRCV000029213 RCV000029212 RCV000032852 RCV000173006 RCV000173005 RCV000422625 RCV000427669 RCV000430227 RCV000437649 RCV000443949 RCV000418725 RCV000420422 RCV000420481 RCV000432361 RCV000439826 RCV000424371 RCV000431824 RCV000419344 RCV000430065 RCV000435072 RCV000439525 RCV000440902 RCV001781319 RCV001813211 RCV001255682 RCV001376004 RCV001849283 RCV003458340
NM_002834.5(PTPN11):c.1380-14C>G	SNV Germline	Chr12:112488429	Conflicting classifications of pathogenicity	Noonan syndrome RASopathy	Criteria Provided Conflicting Classifications	CA260521	rs_193922657	2 SubmittersRCV000030386 RCV003654178
NM_002524.5(NRAS):c.101C>T (p.Pro34Leu)	SNV Germline/somatic	Chr1:114716060	Pathogenic	Epidermal nevus Noonan syndrome 1	No Assertion Criteria Provided	CA130423	rs_397514553	2 SubmittersRCV000032848 RCV000208568
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_004333.6(BRAF):c.735A>C (p.Leu245Phe)	SNV Germline	Chr7:140801537	Pathogenic	Condition: not provided Cardio-facio-cutaneous syndrome LEOPARD syndrome 3 RASopathy Lung carcinoma Noonan syndrome 1 Noonan syndrome 7 Cardiofaciocutaneous syndrome 1 LEOPARD syndrome 3 Noonan syndrome and Noonan-related syndrome	Reviewed By Expert Panel	CA280027	rs_397507466	7 SubmittersRCV000033283 RCV000037956 RCV000171142 RCV000469440 RCV000515291 RCV000788013
NM_004333.6(BRAF):c.735A>T (p.Leu245Phe)	SNV Germline	Chr7:140801537	Pathogenic	Condition: not provided Cardio-facio-cutaneous syndrome Noonan syndrome with multiple lentigines RASopathy Noonan syndrome and Noonan-related syndrome Neurodevelopmental delay	Reviewed By Expert Panel	CA280029	rs_397507466	6 SubmittersRCV000033284 RCV000037957 RCV000055897 RCV000688777 RCV000788012 RCV002273939
NM_004333.6(BRAF):c.740T>C (p.Phe247Ser)	SNV Germline	Chr7:140801532	Likely pathogenic	Noonan syndrome and Noonan-related syndrome Condition: not provided RASopathy	Reviewed By Expert Panel		rs_397507467	3 SubmittersRCV000788011 RCV001703443 RCV003539763
NM_004333.6(BRAF):c.769C>A (p.Gln257Lys)	SNV Germline	Chr7:140801503	Pathogenic/Likely pathogenic	Cardio-facio-cutaneous syndrome Noonan syndrome Inborn genetic diseases Condition: not provided RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA280030	rs_397507469	4 SubmittersRCV000033288 RCV000624665 RCV000212151 RCV003539764
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_001374258.1(BRAF):c.1523T>C (p.Phe508Ser)	SNV Germline	Chr7:140781605	Pathogenic/Likely pathogenic	Condition: not provided Cardio-facio-cutaneous syndrome RASopathy Cardiofaciocutaneous syndrome 1 Noonan syndrome and Noonan-related syndrome BRAF-related disorder See cases	Criteria Provided Multiple Submitters No Conflicts	CA280002	rs_397507473	8 SubmittersRCV000033305 RCV000037917 RCV000797502 RCV001293860 RCV001813222 RCV003407389 RCV002251944
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser)	SNV Germline	Chr7:140778054	Likely pathogenic	Condition: not provided Cardio-facio-cutaneous syndrome RASopathy Noonan syndrome and Noonan-related syndrome 7 conditions	Reviewed By Expert Panel	CA280052	rs_397507475	7 SubmittersRCV000033311 RCV000150207 RCV001172275 RCV001813223 RCV002496497
NM_004333.6(BRAF):c.1502A>C (p.Glu501Ala)	SNV Germline	Chr7:140778006	Pathogenic	Condition: not provided RASopathy Cardiofaciocutaneous syndrome 1 Noonan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA281977	rs_180177039	5 SubmittersRCV000033316 RCV000822490 RCV001089762 RCV001261045
NM_004333.6(BRAF):c.1513C>T (p.Leu505Phe)	SNV Germline	Chr7:140777995	Conflicting classifications of pathogenicity	Condition: not provided Noonan syndrome RASopathy	Criteria Provided Conflicting Classifications	CA281980	rs_397507477	3 SubmittersRCV000033319 RCV000824923 RCV002513320
NM_004333.6(BRAF):c.1695T>G (p.Asp565Glu)	SNV Germline	Chr7:140754233	Pathogenic/Likely pathogenic	Cardio-facio-cutaneous syndrome Condition: not provided Noonan syndrome and Noonan-related syndrome	Criteria Provided Multiple Submitters No Conflicts	CA280016	rs_397507480	3 SubmittersRCV000037927 RCV000207514 RCV001813224
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val)	SNV Germline/somatic	Chr7:140753348	Pathogenic	RASopathy Condition: not provided Cardio-facio-cutaneous syndrome Multiple myeloma Lung adenocarcinoma Glioblastoma Transitional cell carcinoma of the bladder Noonan syndrome Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 1 Inborn genetic diseases	Reviewed By Expert Panel	CA220161	rs_397507483	12 SubmittersRCV000033332 RCV000077865 RCV000208758 RCV000424067 RCV000441123 RCV000431311 RCV000438697 RCV000844615 RCV000856749 RCV001265809
NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile)	SNV Germline/somatic	Chr7:140753339	Pathogenic	Condition: not provided Melanoma Neoplasm Noonan syndrome Cardiofaciocutaneous syndrome 1 RASopathy	Reviewed By Expert Panel	CA281995	rs_121913375	5 SubmittersRCV000033334 RCV000433036 RCV000440873 RCV000824927 RCV001705626 RCV001172273
NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile)	SNV Germline	Chr7:140753333	Pathogenic/Likely pathogenic	RASopathy Cardio-facio-cutaneous syndrome Condition: not provided Noonan syndrome 7 Cardiofaciocutaneous syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA282001	rs_397507484	7 SubmittersRCV000033336 RCV000824928 RCV003321487 RCV002510565 RCV002051799
NM_005188.4(CBL):c.2312A>T (p.Asp771Val)	SNV Germline	Chr11:119298418	Conflicting classifications of pathogenicity	not specified RASopathy Noonan syndrome and Noonan-related syndrome Condition: not provided CBL-related disorder Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA135718	rs_199788586	8 SubmittersRCV000038356 RCV000552056 RCV001813230 RCV001719718 RCV004532482 RCV004018707
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu)	SNV Germline	Chr11:119298451	Conflicting classifications of pathogenicity	not specified CBL-related disorder Condition: not provided RASopathy Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA135724	rs_2229073	13 SubmittersRCV000038358 RCV000106328 RCV000680286 RCV001088335 RCV001813231 RCV002426535
NM_005188.4(CBL):c.2484G>A (p.Pro828=)	SNV Germline	Chr11:119299544	Conflicting classifications of pathogenicity	not specified RASopathy CBL-related disorder Noonan syndrome and Noonan-related syndrome Condition: not provided Cardiovascular phenotype Juvenile myelomonocytic leukemia	Criteria Provided Conflicting Classifications	CA181181	rs_149533467	11 SubmittersRCV000154693 RCV000460543 RCV001103081 RCV001813232 RCV002227048 RCV002426536 RCV003315532
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)	SNV Germline	Chr12:25245320	Pathogenic	RASopathy Noonan syndrome Condition: not provided not specified Cardiofaciocutaneous syndrome 2 Noonan syndrome 3 Noonan syndrome 3 Hereditary diffuse gastric adenocarcinoma 12 conditions	Reviewed By Expert Panel	CA235299	rs_727503110	11 SubmittersRCV000157946 RCV000150893 RCV000157667 RCV000506533 RCV000576784 RCV001095664 RCV001253410 RCV003224112
NM_004985.5(KRAS):c.101C>T (p.Pro34Leu)	SNV Germline	Chr12:25245284	Pathogenic	Noonan syndrome Condition: not provided RASopathy Noonan syndrome 3 Noonan syndrome 1	Reviewed By Expert Panel	CA235301	rs_104894366	7 SubmittersRCV000150892 RCV000157668 RCV000232330 RCV003152670 RCV003450654
NM_033360.4(KRAS):c.355G>A (p.Asp119Asn)	SNV Germline	Chr12:25225709	Likely pathogenic	Condition: not provided Noonan syndrome 3 Autoimmune lymphoproliferative syndrome type 4 Acute myeloid leukemia Cardiofaciocutaneous syndrome 2 Noonan syndrome 3 KRAS-related RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA296084	rs_730880471	4 SubmittersRCV000157937 RCV000999628 RCV000850568 RCV001269478
NM_004985.5(KRAS):c.458A>G (p.Asp153Gly)	SNV Germline	Chr12:25209904	Pathogenic/Likely pathogenic	Noonan syndrome Condition: not provided RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA261707	rs_104894360	4 SubmittersRCV000038274 RCV000157939 RCV000526276
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_002524.5(NRAS):c.35G>T (p.Gly12Val)	SNV Germline/somatic	Chr1:114716126	Pathogenic/Likely pathogenic	Noonan syndrome Condition: not provided Gastric adenocarcinoma Myelodysplastic syndrome Melanoma Acute myeloid leukemia Malignant melanoma of skin Malignant neoplasm of body of uterus Neoplasm of the large intestine Multiple myeloma RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA261525	rs_121913237	6 SubmittersRCV000037576 RCV000158986 RCV000423890 RCV000432178 RCV000419124 RCV000429393 RCV000438750 RCV000438967 RCV000439421 RCV000421072 RCV001377735
NM_002524.5(NRAS):c.175G>A (p.Ala59Thr)	SNV Germline	Chr1:114713915	Conflicting classifications of pathogenicity	Condition: not provided Noonan syndrome 6 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA297023	rs_730880965	3 SubmittersRCV000158981 RCV002470724 RCV004017274
NM_002524.5(NRAS):c.360G>A (p.Leu120=)	SNV Germline	Chr1:114709659	Conflicting classifications of pathogenicity	not specified Condition: not provided Noonan syndrome 6 RASopathy Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA134569	rs_143020946	10 SubmittersRCV000037577 RCV000587570 RCV001100796 RCV001080827 RCV001813240 RCV002453281
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala)	SNV Germline	Chr12:112446385	Pathogenic	RASopathy Noonan syndrome Condition: not provided Noonan syndrome 1 Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype Metachondromatosis Noonan syndrome 1 Juvenile myelomonocytic leukemia LEOPARD syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA235307	rs_397507501	15 SubmittersRCV000227194 RCV000157002 RCV000157675 RCV001330777 RCV001813241 RCV002399352 RCV002482941
NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile)	SNV Germline	Chr12:112450335	Likely pathogenic	Condition: not provided Noonan syndrome RASopathy Noonan syndrome 1	Reviewed By Expert Panel	CA261555	rs_397507503	6 SubmittersRCV000033452 RCV000037621 RCV000809051 RCV002287349
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val)	SNV Germline	Chr12:112450346	Pathogenic	Noonan syndrome Condition: not provided Noonan syndrome 1 RASopathy Noonan syndrome and Noonan-related syndrome PTPN11-related disorder	Reviewed By Expert Panel	CA180973	rs_397507504	10 SubmittersRCV000154561 RCV000518841 RCV000995619 RCV000557839 RCV000788006 RCV004528152
NM_002834.5(PTPN11):c.172A>C (p.Asn58His)	SNV Germline	Chr12:112450352	Pathogenic	Noonan syndrome Condition: not provided RASopathy Noonan syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA235310	rs_397507505	11 SubmittersRCV000037626 RCV000157676 RCV000456871 RCV002470725
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)	SNV Germline	Chr12:112450352	Pathogenic	Condition: not provided Noonan syndrome RASopathy LEOPARD syndrome 1 Noonan syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis Noonan syndrome 1 Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype Metachondromatosis Male infertility with azoospermia or oligozoospermia due to single gene mutation PTPN11-related disorder LEOPARD syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA261558	rs_397507505	18 SubmittersRCV000033455 RCV000037627 RCV000234028 RCV000768061 RCV001283812 RCV001813242 RCV002408493 RCV003333001 RCV003991571 RCV004532483 RCV003333002
NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys)	SNV Germline	Chr12:112450354	Pathogenic	Noonan syndrome Condition: not provided Noonan syndrome 3 RASopathy Noonan syndrome 1 Noonan syndrome and Noonan-related syndrome	Criteria Provided Multiple Submitters No Conflicts	CA235313	rs_397507506	7 SubmittersRCV000037629 RCV000157677 RCV000587067 RCV000556984 RCV001358687 RCV001813243
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys)	SNV Germline	Chr12:112450354	Pathogenic/Likely pathogenic	Condition: not provided Noonan syndrome 1 Noonan syndrome Noonan syndrome 1 LEOPARD syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA261561	rs_397507506	8 SubmittersRCV000033457 RCV000037630 RCV000211846 RCV000515267 RCV000588173
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser)	SNV Germline	Chr12:112450358	Pathogenic/Likely pathogenic	Condition: not provided Noonan syndrome RASopathy LEOPARD syndrome 1 Noonan syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis PTPN11-related disorder See cases	Criteria Provided Multiple Submitters No Conflicts	CA235370	rs_397507507	10 SubmittersRCV000157700 RCV000151684 RCV001219186 RCV002490444 RCV004532484 RCV003985264
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala)	SNV Germline	Chr12:112450359	Pathogenic	Condition: not provided Noonan syndrome Noonan syndrome 1 RASopathy Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA261562	rs_397507509	14 SubmittersRCV000033461 RCV000037631 RCV000416546 RCV000459297 RCV001813244 RCV002408494
NM_002834.5(PTPN11):c.181G>C (p.Asp61His)	SNV Germline	Chr12:112450361	Pathogenic	Condition: not provided Noonan syndrome 3 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA282070	rs_397507510	3 SubmittersRCV000033462 RCV000589874 RCV002408495
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn)	SNV Germline	Chr12:112450361	Pathogenic	RASopathy Condition: not provided LEOPARD syndrome 1 Noonan syndrome 1 Noonan syndrome Noonan syndrome 1 Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype LEOPARD syndrome 1 Noonan syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis Metachondromatosis LEOPARD syndrome 1 PTPN11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA235316	rs_397507510	20 SubmittersRCV000033463 RCV000157678 RCV000576434 RCV000599619 RCV001775072 RCV001813245 RCV002408496 RCV003224113 RCV003147304 RCV003147305 RCV004532485
NM_002834.5(PTPN11):c.184T>A (p.Tyr62Asn)	SNV Germline	Chr12:112450364	Likely pathogenic	RASopathy Noonan syndrome 1	Criteria Provided Multiple Submitters No Conflicts		rs_121918460	2 SubmittersRCV002001115 RCV002052009
NM_002834.5(PTPN11):c.205G>C (p.Glu69Gln)	SNV Germline	Chr12:112450385	Pathogenic	RASopathy Noonan syndrome Condition: not provided Cardiovascular phenotype	Reviewed By Expert Panel	CA261565	rs_397507511	10 SubmittersRCV000033469 RCV000037633 RCV000212889 RCV002415446
NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu)	SNV Germline	Chr12:112450391	Pathogenic/Likely pathogenic	Condition: not provided Noonan syndrome RASopathy Noonan syndrome 3 Noonan syndrome 1 PTPN11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA273215	rs_397507512	9 SubmittersRCV000033470 RCV000151689 RCV000686123 RCV000586528 RCV003150933 RCV004532486
NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro)	SNV Germline	Chr12:112450394	Pathogenic/Likely pathogenic	Condition: not provided Noonan syndrome Noonan syndrome with multiple lentigines RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA261571	rs_121918453	5 SubmittersRCV000033472 RCV000037635 RCV003103718 RCV001852674
NM_002834.5(PTPN11):c.217A>C (p.Thr73Pro)	SNV Germline	Chr12:112450397	Pathogenic/Likely pathogenic	Condition: not provided Noonan syndrome 1 RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA282079	rs_397507513	4 SubmittersRCV000033474 RCV003152671 RCV003654180
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp)	SNV Germline	Chr12:112450408	Pathogenic	RASopathy Noonan syndrome Condition: not provided Noonan syndrome 1 Juvenile myelomonocytic leukemia LEOPARD syndrome 1 Metachondromatosis Noonan syndrome and Noonan-related syndrome Noonan syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA261580	rs_397507514	10 SubmittersRCV000033478 RCV000037639 RCV000254683 RCV000762884 RCV001813246 RCV003150934
NM_002834.5(PTPN11):c.228G>C (p.Glu76Asp)	SNV Germline	Chr12:112450408	Pathogenic	Noonan syndrome Condition: not provided Noonan syndrome 1 RASopathy Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA261577	rs_397507514	7 SubmittersRCV000037638 RCV000033479 RCV000856760 RCV000472904 RCV002453282
NM_002834.5(PTPN11):c.317A>C (p.Asp106Ala)	SNV Germline	Chr12:112450497	Pathogenic	RASopathy Condition: not provided Noonan syndrome Noonan syndrome and Noonan-related syndrome Noonan syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA261584	rs_397507517	9 SubmittersRCV000033483 RCV000212893 RCV000157021 RCV001813247 RCV001261998
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys)	SNV Germline	Chr12:112450508	Pathogenic/Likely pathogenic	Condition: not provided Noonan syndrome Noonan syndrome 3 RASopathy Noonan syndrome and Noonan-related syndrome	Criteria Provided Multiple Submitters No Conflicts	CA261587	rs_397507518	6 SubmittersRCV000033484 RCV000037645 RCV000589214 RCV000815390 RCV001813248
NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala)	SNV Germline	Chr12:112450509	Pathogenic/Likely pathogenic	Condition: not provided not specified Noonan syndrome 1 RASopathy Metachondromatosis LEOPARD syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA282085	rs_397507519	7 SubmittersRCV000033485 RCV001002539 RCV001089572 RCV001221785 RCV003333003 RCV003333004
NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp)	SNV Germline	Chr12:112453279	Pathogenic	RASopathy Condition: not provided Noonan syndrome Juvenile myelomonocytic leukemia Inborn genetic diseases Noonan syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA261590	rs_397507520	8 SubmittersRCV000033490 RCV000212894 RCV000824742 RCV001267275 RCV000995621
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	SNV Germline	Chr12:112453279	Pathogenic	RASopathy Condition: not provided Noonan syndrome 1 LEOPARD syndrome 1 Noonan syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis Noonan syndrome 3 Microcephaly Brachycephaly Pectus excavatum Ptosis Global developmental delay Noonan syndrome Noonan syndrome Juvenile myelomonocytic leukemia Cardiovascular phenotype Hypertrophic cardiomyopathy Noonan syndrome and Noonan-related syndrome Metachondromatosis LEOPARD syndrome 1 PTPN11-related disorder	Reviewed By Expert Panel	CA177671	rs_397507520	37 SubmittersRCV000033491 RCV000077858 RCV000357736 RCV000515221 RCV000585988 RCV001003604 RCV000521568 RCV000824741 RCV000617179 RCV000626830 RCV001813249 RCV003147306 RCV003147307 RCV004528153
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg)	SNV Germline	Chr12:112472954	Pathogenic	Condition: not provided RASopathy Noonan syndrome 1 not specified Noonan syndrome Noonan syndrome with multiple lentigines Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA235325	rs_397507523	10 SubmittersRCV000157681 RCV000033497 RCV000585640 RCV000506790 RCV000824743 RCV002399353
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe)	SNV Germline	Chr12:112472968	Pathogenic	Noonan syndrome Condition: not provided RASopathy Metachondromatosis Noonan syndrome 1 Juvenile myelomonocytic leukemia LEOPARD syndrome 1	Reviewed By Expert Panel	CA235373	rs_397507525	8 SubmittersRCV000037657 RCV000157701 RCV000522926 RCV002496500
NM_002834.5(PTPN11):c.785T>G (p.Leu262Arg)	SNV Germline	Chr12:112472972	Pathogenic	Noonan syndrome 1 RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA267615	rs_397507526	3 SubmittersRCV000106324 RCV000526885
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)	SNV Germline	Chr12:112472981	Pathogenic	Noonan syndrome Condition: not provided Noonan syndrome 1 PTPN11-related disorder RASopathy LEOPARD syndrome 1 Noonan syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis LEOPARD syndrome 1 Metachondromatosis Cardiovascular phenotype	Reviewed By Expert Panel	CA234739	rs_376607329	30 SubmittersRCV000037658 RCV000153788 RCV000234910 RCV000723292 RCV000477501 RCV001536068 RCV001253554 RCV000988915 RCV002415447
NM_002834.5(PTPN11):c.802G>T (p.Gly268Cys)	SNV Germline	Chr12:112472989	Pathogenic/Likely pathogenic	Condition: not provided Noonan syndrome RASopathy Noonan syndrome 1 LEOPARD syndrome 1 PTPN11-related disorder Metachondromatosis	Criteria Provided Multiple Submitters No Conflicts	CA261597	rs_397507527	6 SubmittersRCV000033502 RCV000037660 RCV000703823 RCV001729355 RCV003147309 RCV004545735 RCV003147308
NM_002834.5(PTPN11):c.824A>C (p.Asn275Thr)	SNV Germline	Chr12:112473011	Conflicting classifications of pathogenicity	Noonan syndrome 1 not specified Metachondromatosis LEOPARD syndrome 1 Cardiovascular phenotype RASopathy	Criteria Provided Conflicting Classifications		rs_397507528	4 SubmittersRCV001111779 RCV001264525 RCV001109482 RCV001109483 RCV003298038 RCV001294974
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)	SNV Germline	Chr12:112473031	Pathogenic	RASopathy Condition: not provided Noonan syndrome Noonan syndrome with multiple lentigines Neurodevelopmental abnormality LEOPARD syndrome 1 Noonan syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis Noonan syndrome 1 Cardiovascular phenotype LEOPARD syndrome 1 Noonan syndrome 1 PTPN11-related disorder Noonan syndrome and Noonan-related syndrome Noonan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA220152	rs_397507529	26 SubmittersRCV000033505 RCV000077860 RCV000824745 RCV001731328 RCV002054539 RCV001283770 RCV002444453 RCV003153317 RCV003387505 RCV001813250 RCV002273940
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met)	SNV Germline	Chr12:112473033	Pathogenic/Likely pathogenic	Condition: not provided Noonan syndrome Noonan syndrome 1 Cardiovascular phenotype RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA261600	rs_397507530	9 SubmittersRCV000033506 RCV000037661 RCV001027860 RCV002444454 RCV001852676
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val)	SNV Germline	Chr12:112473040	Conflicting classifications of pathogenicity	LEOPARD syndrome 1 Noonan syndrome 1 Metachondromatosis Condition: not provided RASopathy LEOPARD syndrome 1 Noonan syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis PTPN11-related disorder	Criteria Provided Conflicting Classifications		rs_397507531	5 SubmittersRCV001027842 RCV002508779 RCV003539766 RCV003224796 RCV004532489
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu)	SNV Germline	Chr12:112473040	Pathogenic	Condition: not provided Noonan syndrome RASopathy Noonan syndrome 3 LEOPARD syndrome 1 Noonan syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis Noonan syndrome 1 LEOPARD syndrome 1 Metachondromatosis Cardiovascular phenotype PTPN11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA220155	rs_397507531	16 SubmittersRCV000077861 RCV000037662 RCV000231840 RCV000586058 RCV000762885 RCV000856809 RCV002288529 RCV004562222 RCV004018710 RCV004532490
NM_002834.5(PTPN11):c.854T>G (p.Phe285Cys)	SNV Germline	Chr12:112477651	Pathogenic/Likely pathogenic	RASopathy Noonan syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA261603	rs_121918463	3 SubmittersRCV000033513 RCV000037664 RCV000212895
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr)	SNV Germline	Chr12:112477720	Pathogenic/Likely pathogenic	Condition: not provided Noonan syndrome Noonan syndrome and Noonan-related syndrome LEOPARD syndrome 1 Noonan syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis RASopathy See cases Cardiovascular phenotype PTPN11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA261607	rs_121918455	12 SubmittersRCV000033517 RCV000037668 RCV001813251 RCV002482942 RCV001193110 RCV002287350 RCV002371807 RCV004532491
NM_002834.5(PTPN11):c.990A>C (p.Thr330=)	SNV Germline	Chr12:112477913	Conflicting classifications of pathogenicity	RASopathy not specified Condition: not provided Cardiovascular phenotype Noonan syndrome and Noonan-related syndrome Juvenile myelomonocytic leukemia	Criteria Provided Conflicting Classifications	CA282105	rs_369739920	10 SubmittersRCV000033521 RCV000220386 RCV001711218 RCV002381281 RCV001813253 RCV003315538
NM_002834.5(PTPN11):c.1048T>G (p.Ser350Ala)	SNV Germline	Chr12:112477971	Conflicting classifications of pathogenicity	Condition: not provided Metachondromatosis Juvenile myelomonocytic leukemia Noonan syndrome 1 LEOPARD syndrome 1 RASopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA282111	rs_146571700	4 SubmittersRCV000033523 RCV000763793 RCV003539767 RCV004018712
NM_002834.5(PTPN11):c.1282G>A (p.Val428Met)	SNV Germline	Chr12:112486532	Conflicting classifications of pathogenicity	Condition: not provided Noonan syndrome 1 RASopathy Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA282120	rs_397507536	8 SubmittersRCV000033528 RCV001725940 RCV001852677 RCV001813255 RCV004018713 RCV001818207
NM_002834.5(PTPN11):c.1381G>T (p.Ala461Ser)	SNV Germline	Chr12:112488444	Pathogenic	Condition: not provided Noonan syndrome with multiple lentigines RASopathy LEOPARD syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA261537	rs_121918468	5 SubmittersRCV000033529 RCV000037612 RCV001060541 RCV001729356
NM_002834.5(PTPN11):c.1402A>C (p.Thr468Pro)	SNV Germline	Chr12:112488465	Pathogenic	Condition: not provided RASopathy Noonan syndrome with multiple lentigines Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA282123	rs_397507537	5 SubmittersRCV000033532 RCV000231162 RCV001804754 RCV001813256 RCV002390129
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr)	SNV Germline	Chr12:112489047	Pathogenic/Likely pathogenic	Condition: not provided Noonan syndrome RASopathy Noonan syndrome 1 Metachondromatosis Noonan syndrome 1 Juvenile myelomonocytic leukemia LEOPARD syndrome 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA261540	rs_397507539	12 SubmittersRCV000033535 RCV000208219 RCV000694590 RCV000660240 RCV002490445 RCV004018714
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser)	SNV Germline	Chr12:112489047	Pathogenic	RASopathy Noonan syndrome Condition: not provided Noonan syndrome 1 Noonan syndrome and Noonan-related syndrome	Criteria Provided Multiple Submitters No Conflicts	CA261543	rs_397507539	12 SubmittersRCV000033536 RCV000157010 RCV000254684 RCV000984919 RCV001813257
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His)	SNV Germline	Chr12:112489048	Pathogenic/Likely pathogenic	Condition: not provided Noonan syndrome Short stature Strabismus Abnormal facial shape RASopathy Cardiovascular phenotype Metachondromatosis Noonan syndrome 1 Juvenile myelomonocytic leukemia LEOPARD syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA261546	rs_397507540	8 SubmittersRCV000033537 RCV000037617 RCV001730478 RCV001378165 RCV002390130 RCV002490446
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu)	SNV Germline	Chr12:112489048	Pathogenic/Likely pathogenic	RASopathy Noonan syndrome Condition: not provided Noonan syndrome 1 LEOPARD syndrome 1 Noonan syndrome and Noonan-related syndrome LEOPARD syndrome 1 Noonan syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis PTPN11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA273407	rs_397507540	16 SubmittersRCV000033538 RCV000156989 RCV000254685 RCV001002769 RCV001335067 RCV001813258 RCV002504856 RCV004532492
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp)	SNV Germline	Chr12:112489068	Pathogenic	RASopathy LEOPARD syndrome 1 Condition: not provided Noonan syndrome Noonan syndrome with multiple lentigines Noonan syndrome 1 LEOPARD syndrome 1 Noonan syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis Cardiovascular phenotype Noonan syndrome and Noonan-related syndrome Metachondromatosis PTPN11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA273451	rs_397507541	19 SubmittersRCV000033539 RCV000055885 RCV000254686 RCV000824747 RCV000722171 RCV002490447 RCV004018715 RCV001813259 RCV004558285 RCV004532493
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu)	SNV Germline	Chr12:112489069	Pathogenic	RASopathy LEOPARD syndrome 1 Condition: not provided Abnormal facial shape Scoliosis Intellectual disability, mild Cafe-au-lait spot Specific learning disability Noonan syndrome 1 Noonan syndrome with multiple lentigines Noonan syndrome Noonan syndrome and Noonan-related syndrome	Criteria Provided Multiple Submitters No Conflicts	CA273434	rs_397507542	14 SubmittersRCV000033540 RCV000055886 RCV000212896 RCV000626828 RCV000494687 RCV000824748 RCV001813260
NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys)	SNV Germline	Chr12:112489078	Pathogenic	Condition: not provided Noonan syndrome RASopathy 7 conditions Noonan syndrome 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA261549	rs_397507543	11 SubmittersRCV000033541 RCV000037618 RCV000466382 RCV001800333 RCV002260947 RCV004018716
NM_002834.5(PTPN11):c.1504T>G (p.Ser502Ala)	SNV Germline	Chr12:112489080	Pathogenic	Juvenile myelomonocytic leukemia Noonan syndrome Condition: not provided RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA273454	rs_121918458	7 SubmittersRCV000033542 RCV000212898 RCV001731329
NM_002834.5(PTPN11):c.1505C>T (p.Ser502Leu)	SNV Germline	Chr12:112489081	Pathogenic	Condition: not provided Noonan syndrome RASopathy Noonan syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA261552	rs_397507544	9 SubmittersRCV000033544 RCV000037619 RCV000781773 RCV002227049
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)	SNV Germline	Chr12:112489083	Pathogenic	RASopathy Condition: not provided LEOPARD syndrome 1 Noonan syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis Noonan syndrome 1 Noonan syndrome Juvenile myelomonocytic leukemia Neurodevelopmental disorder Cardiovascular phenotype PTPN11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA273459	rs_397507545	18 SubmittersRCV000033545 RCV000210040 RCV000515165 RCV001028095 RCV000824750 RCV001374913 RCV002390131 RCV004532494
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)	SNV Germline	Chr12:112489083	Pathogenic	RASopathy Condition: not provided Noonan syndrome Noonan syndrome 1 LEOPARD syndrome 1 Noonan syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis Cardiovascular phenotype Noonan syndrome Juvenile myelomonocytic leukemia LEOPARD syndrome 1 PTPN11-related disorder Noonan syndrome and Noonan-related syndrome Metachondromatosis	Criteria Provided Multiple Submitters No Conflicts	CA220137	rs_397507545	21 SubmittersRCV000033546 RCV000077852 RCV000157015 RCV000660241 RCV000762886 RCV000618529 RCV000824749 RCV003147311 RCV004532495 RCV001813261 RCV003147310
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu)	SNV Germline	Chr12:112489084	Pathogenic/Likely pathogenic	Condition: not provided LEOPARD syndrome 1 RASopathy Noonan syndrome 1 LEOPARD syndrome 1 Noonan syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis Metachondromatosis	Criteria Provided Multiple Submitters No Conflicts	CA282132	rs_397507546	8 SubmittersRCV000033548 RCV000677651 RCV000532971 RCV001330778 RCV002490448 RCV003450655
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)	SNV Germline	Chr12:112489086	Pathogenic	RASopathy Condition: not provided Noonan syndrome LEOPARD syndrome 1 Noonan syndrome 1 Metachondromatosis Noonan syndrome 1 LEOPARD syndrome 1 Noonan syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis Cardiovascular phenotype Male infertility with azoospermia or oligozoospermia due to single gene mutation PTPN11-related disorder	Reviewed By Expert Panel	CA220140	rs_397507547	32 SubmittersRCV000033549 RCV000077853 RCV000156983 RCV001027841 RCV000677652 RCV000762887 RCV002390132 RCV003991572 RCV004532496
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro)	SNV Germline	Chr12:112489093	Pathogenic	RASopathy LEOPARD syndrome 1 Condition: not provided Noonan syndrome with multiple lentigines Noonan syndrome Cardiovascular phenotype PTPN11-related disorder Noonan syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA235331	rs_397507548	14 SubmittersRCV000033550 RCV000055887 RCV000157683 RCV000154371 RCV001849289 RCV002390133 RCV004541060 RCV004554638
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu)	SNV Germline	Chr12:112489104	Pathogenic	RASopathy LEOPARD syndrome 1 Condition: not provided Noonan syndrome 3 Cardiovascular phenotype Noonan syndrome 1 Noonan syndrome Noonan syndrome with multiple lentigines See cases PTPN11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA273420	rs_397507549	14 SubmittersRCV000033553 RCV000055888 RCV000210041 RCV000589512 RCV000619738 RCV000679882 RCV000824751 RCV002251945 RCV004545736
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His)	SNV Germline	Chr12:112489106	Pathogenic	Condition: not provided RASopathy Cardiovascular phenotype Metachondromatosis LEOPARD syndrome 1 PTPN11-related disorder LEOPARD syndrome 1 Noonan syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis Noonan syndrome 1	Reviewed By Expert Panel	CA220143	rs_397507550	12 SubmittersRCV000077854 RCV000521890 RCV002399355 RCV003147313 RCV003147314 RCV004532497 RCV002490449 RCV003147312
NM_002880.4(RAF1):c.-201C>A	SNV Germline	Chr3:12663987	Conflicting classifications of pathogenicity	not specified Noonan syndrome 5 LEOPARD syndrome 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA177687	rs_532668125	4 SubmittersRCV000151722 RCV001144428 RCV001144429 RCV001636612
NM_002880.4(RAF1):c.-27+7G>A	SNV Germline	Chr3:12663806	Conflicting classifications of pathogenicity	Noonan syndrome 5 LEOPARD syndrome 2 Condition: not provided Noonan syndrome and Noonan-related syndrome	Criteria Provided Conflicting Classifications	CA10602361	rs_886057916	3 SubmittersRCV000301764 RCV000408406 RCV001711219 RCV001813263
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln)	SNV Germline	Chr3:12618600	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype RASopathy Condition: not provided Primary familial dilated cardiomyopathy Noonan syndrome 5 LEOPARD syndrome 2 Noonan syndrome and Noonan-related syndrome Noonan syndrome RAF1-related disorder	Criteria Provided Conflicting Classifications	CA134693	rs_145611571	13 SubmittersRCV000037673 RCV000253580 RCV000463359 RCV000680304 RCV000624707 RCV001149006 RCV000987120 RCV001813264 RCV001261025 RCV004541062
NM_002880.4(RAF1):c.524A>G (p.His175Arg)	SNV Germline	Chr3:12608823	Conflicting classifications of pathogenicity	Noonan syndrome Condition: not provided RASopathy Noonan syndrome 5 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA261614	rs_397516822	7 SubmittersRCV000037693 RCV000788414 RCV001213204 RCV001254110 RCV003362668
NM_002880.4(RAF1):c.768G>T (p.Arg256Ser)	SNV Germline	Chr3:12604202	Pathogenic	Noonan syndrome Condition: not provided RASopathy Cardiovascular phenotype	Reviewed By Expert Panel	CA261625	rs_397516826	6 SubmittersRCV000037701 RCV000159072 RCV000523940 RCV004018717
NM_002880.4(RAF1):c.769T>C (p.Ser257Pro)	SNV Germline/somatic	Chr3:12604201	Likely pathogenic	Noonan syndrome Condition: not provided Primary familial hypertrophic cardiomyopathy Melanoma RASopathy	Reviewed By Expert Panel	CA184835	rs_727505017	6 SubmittersRCV000156441 RCV000159073 RCV000208439 RCV000426760 RCV000520189
NM_002880.4(RAF1):c.775T>A (p.Ser259Thr)	SNV Germline	Chr3:12604195	Pathogenic	Noonan syndrome Condition: not provided RASopathy Noonan syndrome 1	Reviewed By Expert Panel	CA261617	rs_3730271	8 SubmittersRCV000037698 RCV000159074 RCV000522675 RCV003450656
NM_002880.4(RAF1):c.776C>G (p.Ser259Cys)	SNV Germline	Chr3:12604194	Pathogenic/Likely pathogenic	Condition: not provided RASopathy Noonan syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA297115	rs_397516827	5 SubmittersRCV000159075 RCV000525018 RCV000850365
NM_002880.4(RAF1):c.776C>T (p.Ser259Phe)	SNV Germline/somatic	Chr3:12604194	Pathogenic	RASopathy Noonan syndrome Noonan syndrome and Noonan-related syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA339739	rs_397516827	5 SubmittersRCV000204940 RCV000423120 RCV001813266 RCV002504857
NM_002880.4(RAF1):c.781C>A (p.Pro261Thr)	SNV Germline	Chr3:12604189	Pathogenic/Likely pathogenic	Noonan syndrome RASopathy Noonan syndrome and Noonan-related syndrome Noonan syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA250285	rs_121434594	6 SubmittersRCV000037703 RCV000149827 RCV001813267 RCV003150935
NM_002880.4(RAF1):c.781C>G (p.Pro261Ala)	SNV Germline/somatic	Chr3:12604189	Pathogenic/Likely pathogenic	Noonan syndrome Condition: not provided Primary familial hypertrophic cardiomyopathy LEOPARD syndrome 2 Dilated cardiomyopathy 1NN Noonan syndrome 5 RASopathy RAF1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA261626	rs_121434594	8 SubmittersRCV000211848 RCV000354359 RCV000208199 RCV000763094 RCV001217833 RCV004541063
NM_002880.4(RAF1):c.782C>G (p.Pro261Arg)	SNV Germline	Chr3:12604188	Pathogenic/Likely pathogenic	Noonan syndrome Condition: not provided RASopathy Noonan syndrome 5 Noonan syndrome and Noonan-related syndrome	Criteria Provided Multiple Submitters No Conflicts	CA134753	rs_397516828	8 SubmittersRCV000037706 RCV000159077 RCV000590070 RCV000277865 RCV001813268
NM_002880.4(RAF1):c.788T>G (p.Val263Gly)	SNV Germline	Chr3:12604182	Likely pathogenic	Noonan syndrome Condition: not provided RASopathy Noonan syndrome 1	Reviewed By Expert Panel	CA273745	rs_397516830	7 SubmittersRCV000037708 RCV000159078 RCV000523845 RCV003450657
NM_002880.4(RAF1):c.788T>C (p.Val263Ala)	SNV Germline/somatic	Chr3:12604182	Pathogenic/Likely pathogenic	Noonan syndrome Condition: not provided RASopathy Cardiovascular phenotype Noonan syndrome 5 Hereditary breast ovarian cancer syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16602249	rs_397516830	6 SubmittersRCV000442596 RCV000680627 RCV000686662 RCV002408497 RCV003137555 RCV004525861
NM_002880.4(RAF1):c.917C>T (p.Ser306Leu)	SNV Germline	Chr3:12600225	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype RASopathy Noonan syndrome	Criteria Provided Conflicting Classifications	CA10602363	rs_886041231	4 SubmittersRCV000275940 RCV003162288 RCV000820134 RCV001249756
NM_002880.4(RAF1):c.1082G>C (p.Gly361Ala)	SNV Germline	Chr3:12599717	Pathogenic	Noonan syndrome Condition: not provided RASopathy LEOPARD syndrome 2 Noonan syndrome 5	Reviewed By Expert Panel	CA134687	rs_397516813	8 SubmittersRCV000037671 RCV000159081 RCV000473341 RCV000987116 RCV001542563
NM_002880.4(RAF1):c.1279A>G (p.Ser427Gly)	SNV Germline	Chr3:12590889	Pathogenic	Condition: not provided Noonan syndrome and Noonan-related syndrome RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA297127	rs_730881002	3 SubmittersRCV000159084 RCV001813271 RCV001852678
NM_002880.4(RAF1):c.1423T>C (p.Phe475Leu)	SNV Germline	Chr3:12585794	Pathogenic/Likely pathogenic	Condition: not provided Noonan syndrome Dilated cardiomyopathy 1NN RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA297130	rs_730881003	5 SubmittersRCV000159085 RCV000602545 RCV003444149 RCV001852679
NM_002880.4(RAF1):c.1457A>G (p.Asp486Gly)	SNV Germline	Chr3:12585760	Pathogenic/Likely pathogenic	Noonan syndrome Condition: not provided RASopathy RAF1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA261610	rs_397516815	5 SubmittersRCV000037675 RCV000434022 RCV000555975 RCV004554639
NM_007373.4(SHOC2):c.-159T>C	SNV Germline	Chr10:110964200	Conflicting classifications of pathogenicity	not specified Noonan syndrome-like disorder with loose anagen hair 1 Condition: not provided Noonan syndrome and Noonan-related syndrome	Criteria Provided Conflicting Classifications	CA177984	rs_72819758	4 SubmittersRCV000151876 RCV000363754 RCV001636613 RCV001813275
NM_007373.4(SHOC2):c.-114C>G	SNV Germline	Chr10:110964245	Conflicting classifications of pathogenicity	Noonan syndrome-like disorder with loose anagen hair 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_1057217316	2 SubmittersRCV001103681 RCV001636614
NM_007373.4(SHOC2):c.74A>G (p.Glu25Gly)	SNV Germline	Chr10:110964432	Conflicting classifications of pathogenicity	not specified Condition: not provided RASopathy Noonan syndrome Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype Noonan syndrome-like disorder with loose anagen hair 1	Criteria Provided Conflicting Classifications	CA297172	rs_730881019	8 SubmittersRCV000159109 RCV000766822 RCV000799563 RCV001261147 RCV001813276 RCV002390134 RCV001004912
NM_005633.4(SOS1):c.233T>G (p.Phe78Cys)	SNV Germline	Chr2:39058785	Conflicting classifications of pathogenicity	RASopathy Condition: not provided Noonan syndrome 1 Ventricular tachycardia Intellectual disability Cardiovascular phenotype SOS1-related disorder	Criteria Provided Conflicting Classifications	CA297244	rs_201352584	9 SubmittersRCV000460292 RCV000514749 RCV000986626 RCV000852537 RCV001281498 RCV002444455 RCV003407394
NM_005633.4(SOS1):c.253T>C (p.Trp85Arg)	SNV Germline	Chr2:39058765	Pathogenic	RASopathy Noonan syndrome	Criteria Provided Single Submitter	CA346373979	rs_730881054	2 SubmittersRCV000545153 RCV001261068
NM_005633.4(SOS1):c.322G>A (p.Glu108Lys)	SNV Germline	Chr2:39058696	Pathogenic	Noonan syndrome Condition: not provided RASopathy Noonan syndrome and Noonan-related syndrome	Reviewed By Expert Panel	CA261739	rs_397517164	6 SubmittersRCV000038546 RCV000159144 RCV000537356 RCV001813280
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu)	SNV Germline	Chr2:39056704	Pathogenic	Noonan syndrome Condition: not provided RASopathy not specified Neonatal hypotonia Noonan syndrome 4 SOS1-related disorder Cardiovascular phenotype	Reviewed By Expert Panel	CA235342	rs_397517172	19 SubmittersRCV000038560 RCV000157689 RCV000476014 RCV001002150 RCV001526618 RCV001729357 RCV003914900 RCV002345263
NM_005633.4(SOS1):c.512T>G (p.Val171Gly)	SNV Germline	Chr2:39054822	Conflicting classifications of pathogenicity	not specified RASopathy Inborn genetic diseases Noonan syndrome 4	Criteria Provided Conflicting Classifications	CA136165	rs_397517174	4 SubmittersRCV000038563 RCV000466303 RCV000624181 RCV004018718
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys)	SNV Germline	Chr2:39054763	Conflicting classifications of pathogenicity	Condition: not provided Noonan syndrome not specified Fibromatosis, gingival, 1 Noonan syndrome 4 RASopathy Primary dilated cardiomyopathy	Criteria Provided Conflicting Classifications	CA10602366	rs_886041241	9 SubmittersRCV000293469 RCV000761106 RCV002247417 RCV002467503 RCV002467504 RCV001069595 RCV001543363
NM_005633.4(SOS1):c.806T>C (p.Met269Thr)	SNV Germline	Chr2:39051202	Pathogenic	Condition: not provided Noonan syndrome Noonan syndrome 4 RASopathy Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype Noonan syndrome 1	Reviewed By Expert Panel	CA235344	rs_137852813	17 SubmittersRCV000157690 RCV000208414 RCV000487454 RCV000539275 RCV001813283 RCV002415451 RCV003150936
NM_005633.4(SOS1):c.1269C>G (p.Asn423Lys)	SNV Germline	Chr2:39023159	Conflicting classifications of pathogenicity	Condition: not provided RASopathy not specified Fibromatosis, gingival, 1 Noonan syndrome 4 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA297301	rs_138459502	5 SubmittersRCV000159188 RCV000556655 RCV001192794 RCV002467507 RCV002467508 RCV002444456
NM_005633.4(SOS1):c.1297G>A (p.Glu433Lys)	SNV Germline	Chr2:39023131	Pathogenic	Noonan syndrome Condition: not provided RASopathy Noonan syndrome 4 Noonan syndrome 1 Noonan syndrome and Noonan-related syndrome	Criteria Provided Multiple Submitters No Conflicts	CA235348	rs_397517147	7 SubmittersRCV000038513 RCV000157692 RCV000467110 RCV002467509 RCV003450658 RCV001813285
NM_005633.4(SOS1):c.1300G>C (p.Gly434Arg)	SNV Germline	Chr2:39023128	Pathogenic	not specified RASopathy Noonan syndrome 4 Fibromatosis, gingival, 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_397517148	5 SubmittersRCV001002596 RCV001217212 RCV002467510 RCV003460541 RCV001508984
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg)	SNV Germline	Chr2:39023128	Pathogenic/Likely pathogenic	Noonan syndrome Pulmonic stenosis Ptosis Abnormal sternum morphology Short stature RASopathy Noonan syndrome 1 Condition: not provided Fetal cystic hygroma Noonan syndrome and Noonan-related syndrome Fibromatosis, gingival, 1 Noonan syndrome 4 Cardiovascular phenotype Noonan syndrome 4	Criteria Provided Multiple Submitters No Conflicts	CA261717	rs_397517148	12 SubmittersRCV000038514 RCV000626886 RCV000781878 RCV000856735 RCV000788323 RCV001526663 RCV001813286 RCV002054543 RCV002381284 RCV001270835
NM_005633.4(SOS1):c.1322G>A (p.Cys441Tyr)	SNV Germline	Chr2:39023106	Pathogenic	Condition: not provided Noonan syndrome RASopathy Noonan syndrome 4	Criteria Provided Multiple Submitters No Conflicts	CA273441	rs_727504295	7 SubmittersRCV000159166 RCV000154314 RCV000534974 RCV002467511
NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg)	SNV Germline	Chr2:39022786	Pathogenic	Noonan syndrome Condition: not provided RASopathy Inborn genetic diseases Noonan syndrome 4 Fibromatosis, gingival, 1 Noonan syndrome 4 Noonan syndrome and Noonan-related syndrome Noonan syndrome 1	Reviewed By Expert Panel	CA234977	rs_397517149	12 SubmittersRCV000038515 RCV000153986 RCV000654915 RCV000623399 RCV000763087 RCV002054544 RCV001813287 RCV003450659
NM_005633.4(SOS1):c.1644T>A (p.Ser548Arg)	SNV Germline	Chr2:39022784	Pathogenic	Condition: not provided RASopathy Noonan syndrome Noonan syndrome 4	Criteria Provided Multiple Submitters No Conflicts	CA297272	rs_730881045	5 SubmittersRCV000159171 RCV001381689 RCV001261087 RCV002467514
NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro)	SNV Germline	Chr2:39022779	Pathogenic	Noonan syndrome Condition: not provided RASopathy Noonan syndrome 4 SOS1-related disorder Noonan syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA261724	rs_397517153	10 SubmittersRCV000038520 RCV000159172 RCV000550001 RCV002467515 RCV003398589 RCV003150937
NM_005633.4(SOS1):c.1655G>T (p.Arg552Met)	SNV Germline	Chr2:39022773	Likely pathogenic	RASopathy Condition: not provided Noonan syndrome and Noonan-related syndrome Noonan syndrome	Reviewed By Expert Panel	CA16616762	rs_397517154	5 SubmittersRCV000685882 RCV000484403 RCV000787996 RCV004017276
NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr)	SNV Germline	Chr2:39022773	Pathogenic	Condition: not provided Noonan syndrome RASopathy Abnormal aortic valve morphology Noonan syndrome 4 Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype SOS1-related disorder Noonan syndrome 1	Reviewed By Expert Panel	CA261728	rs_397517154	14 SubmittersRCV000159176 RCV000208093 RCV000528274 RCV000626887 RCV001507015 RCV001813288 RCV002399361 RCV003390718 RCV003450660
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys)	SNV Germline	Chr2:39022773	Pathogenic	Condition: not provided Noonan syndrome Noonan syndrome 3 Noonan syndrome 4 Noonan syndrome 1 Fibromatosis, gingival, 1 RASopathy	Reviewed By Expert Panel	CA261726	rs_397517154	16 SubmittersRCV000159175 RCV000157017 RCV000587705 RCV001169984 RCV000856745 RCV001335308 RCV001062868
NM_005633.4(SOS1):c.1656G>T (p.Arg552Ser)	SNV Germline	Chr2:39022772	Pathogenic	Noonan syndrome Condition: not provided RASopathy Fibromatosis, gingival, 1 Noonan syndrome 4 Noonan syndrome and Noonan-related syndrome See cases Noonan syndrome 4 Cardiovascular phenotype	Reviewed By Expert Panel	CA261730	rs_267607079	12 SubmittersRCV000038525 RCV000213008 RCV000149832 RCV000515298 RCV000787997 RCV003128391 RCV002250500 RCV002399362
NM_005633.4(SOS1):c.2104T>C (p.Tyr702His)	SNV Germline	Chr2:39013523	Pathogenic	Noonan syndrome Condition: not provided RASopathy Noonan syndrome 4 Fibromatosis, gingival, 1 Noonan syndrome 4	Criteria Provided Multiple Submitters No Conflicts	CA273696	rs_727505381	6 SubmittersRCV000156979 RCV000159124 RCV000817385 RCV002496502 RCV002467518
NM_005633.4(SOS1):c.2183A>T (p.Lys728Ile)	SNV Germline	Chr2:39012333	Pathogenic/Likely pathogenic	Noonan syndrome Noonan syndrome 4 Condition: not provided RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA261731	rs_397517156	5 SubmittersRCV000038531 RCV000495874 RCV000159126 RCV001045366
NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe)	SNV Germline	Chr2:39012319	Pathogenic/Likely pathogenic	Condition: not provided Noonan syndrome 3 RASopathy Noonan syndrome 4 SOS1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA297205	rs_574088829	7 SubmittersRCV000159127 RCV000587797 RCV001233419 RCV002051800 RCV003407395
NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys)	SNV Germline	Chr2:39007168	Pathogenic	Noonan syndrome Condition: not provided RASopathy Fibromatosis, gingival, 1 Noonan syndrome 4 Cardiovascular phenotype SOS1-related disorder Noonan syndrome and Noonan-related syndrome	Reviewed By Expert Panel	CA261734	rs_397517159	13 SubmittersRCV000038535 RCV000207492 RCV000471633 RCV000763085 RCV002453285 RCV003421942 RCV001813296
NM_005633.4(SOS1):c.3269C>T (p.Pro1090Leu)	SNV Germline	Chr2:38995200	Conflicting classifications of pathogenicity	not specified RASopathy Condition: not provided Fibromatosis, gingival, 1 Noonan syndrome 4 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA205476	rs_730881034	8 SubmittersRCV000192568 RCV000819933 RCV000997119 RCV001143048 RCV001143049 RCV002444457
NM_005633.4(SOS1):c.3418T>A (p.Leu1140Ile)	SNV Germline	Chr2:38987565	Conflicting classifications of pathogenicity	Noonan syndrome 4 not specified Condition: not provided Cardiovascular phenotype RASopathy	Criteria Provided Conflicting Classifications	CA1624178	rs_375550588	6 SubmittersRCV000577966 RCV000592644 RCV001588841 RCV002453287 RCV000463473
NM_005633.4(SOS1):c.3524A>C (p.His1175Pro)	SNV Germline	Chr2:38986302	Conflicting classifications of pathogenicity	Cardiovascular phenotype Fibromatosis, gingival, 1 Condition: not provided RASopathy Fibromatosis, gingival, 1 Noonan syndrome 4 Noonan syndrome 4	Criteria Provided Conflicting Classifications	CA297237	rs_730881035	6 SubmittersRCV002453288 RCV002467527 RCV000589150 RCV001230717 RCV002477050 RCV002467528
NM_005633.4(SOS1):c.3729C>G (p.Asp1243Glu)	SNV Germline	Chr2:38986097	Conflicting classifications of pathogenicity	not specified Noonan syndrome and Noonan-related syndrome RASopathy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA297196	rs_730881026	5 SubmittersRCV000159118 RCV001813302 RCV000231740 RCV001703448 RCV002345265
NM_002755.4(MAP2K1):c.343C>G (p.Leu115Val)	SNV Germline	Chr15:66436797	Conflicting classifications of pathogenicity	Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA392930543	rs_1428775799	2 SubmittersRCV001813305 RCV004018722
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu)	SNV Germline/somatic	Chr15:66436825	Pathogenic/Likely pathogenic	Cardio-facio-cutaneous syndrome Neoplasm of the large intestine Melanoma Malignant melanoma of skin Malignant neoplasm of body of uterus Transitional cell carcinoma of the bladder Condition: not provided Cardiofaciocutaneous syndrome 3 RASopathy Noonan syndrome and Noonan-related syndrome	Criteria Provided Multiple Submitters No Conflicts	CA279996	rs_397516792	11 SubmittersRCV000037595 RCV000424633 RCV000436322 RCV000417448 RCV000425638 RCV000435315 RCV000680623 RCV001542689 RCV002513329 RCV001813306
NM_030662.4(MAP2K2):c.274A>G (p.Arg92Gly)	SNV Germline	Chr19:4117448	Conflicting classifications of pathogenicity	not specified RASopathy Neurofibromatosis-Noonan syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9091063	rs_759061964	6 SubmittersRCV000413006 RCV001063339 RCV000824945 RCV003153319 RCV003162290
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_030662.4(MAP2K2):c.619G>A (p.Glu207Lys)	SNV Germline	Chr19:4101105	Likely pathogenic	RASopathy Condition: not provided Cardio-facio-cutaneous syndrome Noonan syndrome Cardio-facio-cutaneous syndrome	Reviewed By Expert Panel	CA180944	rs_727504382	8 SubmittersRCV000158024 RCV000254662 RCV000524055 RCV000844675
NM_030662.4(MAP2K2):c.853G>A (p.Asp285Asn)	SNV Germline	Chr19:4099267	Conflicting classifications of pathogenicity	not specified Condition: not provided Noonan syndrome RASopathy	Criteria Provided Conflicting Classifications	CA296142	rs_150369301	6 SubmittersRCV000158029 RCV000680294 RCV001261064 RCV001480813
NM_004333.6(BRAF):c.1801A>C (p.Lys601Gln)	SNV Germline	Chr7:140753334	Pathogenic	Condition: not provided Noonan syndrome Cardio-facio-cutaneous syndrome RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA215454	rs_121913364	4 SubmittersRCV000034332 RCV000150201 RCV003539770
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser)	SNV Germline	Chr17:31229200	Conflicting classifications of pathogenicity	Condition: not provided Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal Juvenile myelomonocytic leukemia Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA215735	rs_200302954	13 SubmittersRCV000034582 RCV000200298 RCV000222839 RCV000765346 RCV002426541
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu)	SNV Germline	Chr17:31169939	Conflicting classifications of pathogenicity	Condition: not provided not specified Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal	Criteria Provided Conflicting Classifications	CA161065	rs_112306990	23 SubmittersRCV000034585 RCV000121638 RCV000129680 RCV000199175 RCV000264802 RCV000323382 RCV000268253
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu)	SNV Germline	Chr17:31340512	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Neurofibromatosis, familial spinal Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Cardiovascular phenotype Hereditary cancer-predisposing syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis NF1-related disorder	Criteria Provided Conflicting Classifications	CA164285	rs_148736217	12 SubmittersRCV000034587 RCV000129366 RCV000214790 RCV001122581 RCV001082296 RCV001122582 RCV002362613 RCV001122580 RCV003233080 RCV004549402
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe)	SNV Germline	Chr17:31358614	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Juvenile myelomonocytic leukemia Neurofibromatosis, familial spinal not specified Neurofibromatosis, type 1 Cardiovascular phenotype Hereditary cancer-predisposing syndrome NF1-related disorder	Criteria Provided Conflicting Classifications	CA166986	rs_201824349	9 SubmittersRCV000034591 RCV000130727 RCV000515212 RCV000501885 RCV001079427 RCV002415459 RCV004549403
NM_001042492.3(NF1):c.847G>T (p.Asp283Tyr)	SNV Germline	Chr17:31182624	Conflicting classifications of pathogenicity	Condition: not provided Neurofibromatosis, type 1 Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Juvenile myelomonocytic leukemia Neurofibromatosis, familial spinal Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA165606	rs_200572531	8 SubmittersRCV000034592 RCV000205213 RCV001027794 RCV002490460 RCV004558288
NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg)	SNV Germline	Chr15:66435221	Likely pathogenic	Condition: not provided Cardio-facio-cutaneous syndrome Noonan syndrome and Noonan-related syndrome	Reviewed By Expert Panel	CA134601	rs_397516791	5 SubmittersRCV000158005 RCV000522848 RCV001813322
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg)	SNV Germline	Chr12:112450389	Pathogenic	Noonan syndrome RASopathy Condition: not provided LEOPARD syndrome 1 Noonan syndrome 1	Reviewed By Expert Panel	CA261568	rs_397516801	9 SubmittersRCV000037634 RCV000206837 RCV000405696 RCV002464090 RCV003313932
NM_002834.5(PTPN11):c.235C>A (p.Gln79Lys)	SNV Germline	Chr12:112450415	Likely pathogenic	Noonan syndrome RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA261581	rs_397516803	2 SubmittersRCV000037640 RCV003764672
NM_002834.5(PTPN11):c.556C>T (p.Arg186Trp)	SNV Germline	Chr12:112454594	Conflicting classifications of pathogenicity	not specified Condition: not provided Noonan syndrome and Noonan-related syndrome RASopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA134673	rs_143433437	7 SubmittersRCV000037651 RCV001569121 RCV001813330 RCV001852783 RCV002345295
NM_002834.5(PTPN11):c.774G>T (p.Glu258Asp)	SNV Germline	Chr12:112472961	Pathogenic/Likely pathogenic	Noonan syndrome Condition: not provided not specified	Criteria Provided Multiple Submitters No Conflicts	CA261591	rs_397516809	3 SubmittersRCV000037656 RCV000159049 RCV001002142
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser)	SNV Germline	Chr12:112472989	Pathogenic/Likely pathogenic	Noonan syndrome Condition: not provided RASopathy LEOPARD syndrome 1 Noonan syndrome 1 Juvenile myelomonocytic leukemia LEOPARD syndrome 1 Metachondromatosis Noonan syndrome 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA261594	rs_397507527	13 SubmittersRCV000037659 RCV000159050 RCV000587886 RCV001330780 RCV002504894 RCV003338391 RCV002415470
NM_002834.5(PTPN11):c.855T>G (p.Phe285Leu)	SNV Germline	Chr12:112477652	Pathogenic	Noonan syndrome Condition: not provided Noonan syndrome 3 RASopathy Noonan syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA261606	rs_397516810	5 SubmittersRCV000037665 RCV000159052 RCV000587757 RCV000687570 RCV002288537
NM_002880.4(RAF1):c.766A>G (p.Arg256Gly)	SNV Germline	Chr3:12604204	Pathogenic/Likely pathogenic	Noonan syndrome RASopathy Condition: not provided Noonan syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA261620	rs_397516825	5 SubmittersRCV000037699 RCV000550843 RCV002227051 RCV003450729
NM_002880.4(RAF1):c.768G>C (p.Arg256Ser)	SNV Germline	Chr3:12604202	Pathogenic/Likely pathogenic	Noonan syndrome RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA261623	rs_397516826	2 SubmittersRCV000037700 RCV001852785
NM_002880.4(RAF1):c.776C>A (p.Ser259Tyr)	SNV Germline	Chr3:12604194	Pathogenic	not specified LEOPARD syndrome 2 Noonan syndrome Condition: not provided RASopathy	Reviewed By Expert Panel	CA134750	rs_397516827	5 SubmittersRCV000037702 RCV000987117 RCV001261032 RCV001843945 RCV001250389
NM_002880.4(RAF1):c.786T>A (p.Asn262Lys)	SNV Germline	Chr3:12604184	Pathogenic	Noonan syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA261628	rs_397516829	3 SubmittersRCV000037707 RCV000388842
NM_001374258.1(BRAF):c.1529C>G (p.Thr510Arg)	SNV Germline	Chr7:140781599	Likely pathogenic	Noonan syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA261657	rs_397516891	3 SubmittersRCV000037920 RCV000681421
NM_004333.6(BRAF):c.1694+14G>A	SNV Germline	Chr7:140776898	Conflicting classifications of pathogenicity	not specified Noonan syndrome 7 LEOPARD syndrome 3 RASopathy	Criteria Provided Conflicting Classifications	CA135091	rs_184144181	5 SubmittersRCV000037926 RCV000321913 RCV000263036 RCV002054681
NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys)	SNV Germline	Chr7:140753392	Pathogenic/Likely pathogenic	Cardio-facio-cutaneous syndrome Condition: not provided Cardiofaciocutaneous syndrome 1 Lung carcinoma Noonan syndrome 1 LEOPARD syndrome 3 Noonan syndrome 7	Criteria Provided Multiple Submitters No Conflicts	CA280022	rs_397516895	3 SubmittersRCV000037929 RCV000524048 RCV000763165
NM_004333.6(BRAF):c.1786G>T (p.Gly596Cys)	SNV Germline	Chr7:140753349	Conflicting classifications of pathogenicity	not specified Noonan syndrome and Noonan-related syndrome RASopathy	Criteria Provided Conflicting Classifications	CA135098	rs_121913361	3 SubmittersRCV000037933 RCV001813335 RCV002513489
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr)	SNV Germline/somatic	Chr7:140753333	Pathogenic	Cardio-facio-cutaneous syndrome Noonan syndrome Gastric adenocarcinoma Prostate adenocarcinoma Malignant neoplasm of body of uterus B-cell chronic lymphocytic leukemia Thyroid tumor Lung adenocarcinoma Malignant melanoma of skin Cardiofaciocutaneous syndrome 1 RASopathy	Criteria Provided Single Submitter	CA261660	rs_397507484	4 SubmittersRCV000037939 RCV000420107 RCV000431024 RCV000444564 RCV000417689 RCV000434946 RCV000425098 RCV000438200 RCV000999627 RCV003539772
NM_004333.6(BRAF):c.722C>A (p.Thr241Lys)	SNV Germline	Chr7:140801550	Pathogenic	Noonan syndrome RASopathy	Reviewed By Expert Panel	CA261663	rs_387906660	3 SubmittersRCV000037953 RCV000807047
NM_004333.6(BRAF):c.739T>G (p.Phe247Val)	SNV Germline	Chr7:140801533	Likely pathogenic	not specified Condition: not provided Noonan syndrome and Noonan-related syndrome Noonan syndrome Cardio-facio-cutaneous syndrome RASopathy	Reviewed By Expert Panel	CA135140	rs_397516903	6 SubmittersRCV000037958 RCV000339233 RCV000788008 RCV000824912 RCV002513490
NM_004333.6(BRAF):c.785A>C (p.Gln262Pro)	SNV Germline	Chr7:140801487	Pathogenic/Likely pathogenic	Condition: not provided Cardio-facio-cutaneous syndrome Noonan syndrome RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA280033	rs_397516904	5 SubmittersRCV000392102 RCV000208128 RCV000824915 RCV001852795
NM_004333.6(BRAF):c.793G>C (p.Gly265Arg)	SNV Germline	Chr7:140801479	Likely pathogenic	Noonan syndrome RASopathy	Reviewed By Expert Panel	CA261666	rs_397516905	4 SubmittersRCV000037962 RCV000736078
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.198A>G (p.Ala66=)	SNV Germline	Chr12:25227326	Conflicting classifications of pathogenicity	not specified Noonan syndrome RASopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA135555	rs_200229810	6 SubmittersRCV000038260 RCV000306687 RCV001089083 RCV001682733
NM_004985.5(KRAS):c.454G>T (p.Val152Phe)	SNV Germline	Chr12:25209908	Likely pathogenic	Noonan syndrome	Criteria Provided Single Submitter	CA261705	rs_397517041	1 SubmittersRCV000038273
NM_004985.5(KRAS):c.466T>G (p.Phe156Val)	SNV Germline	Chr12:25209896	Pathogenic/Likely pathogenic	Noonan syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA261709	rs_397517042	2 SubmittersRCV000038275 RCV000157941
NM_005188.4(CBL):c.1096-1G>C	SNV Germline/somatic	Chr11:119278165	Pathogenic/Likely pathogenic	Noonan syndrome Inborn genetic diseases RASopathy Juvenile myelomonocytic leukemia CBL-related disorder Condition: not provided Noonan syndrome-like disorder with juvenile myelomonocytic leukemia	Criteria Provided Multiple Submitters No Conflicts	CA135696	rs_397517076	6 SubmittersRCV000038346 RCV000624342 RCV001852803 RCV002482996 RCV001789707 RCV001270818
NM_005633.4(SOS1):c.1132A>G (p.Thr378Ala)	SNV Germline	Chr2:39024080	Pathogenic/Likely pathogenic	Noonan syndrome Condition: not provided RASopathy Cardiovascular phenotype Noonan syndrome 4	Criteria Provided Multiple Submitters No Conflicts	CA261714	rs_397517146	5 SubmittersRCV000038510 RCV000482668 RCV000821113 RCV002321513 RCV002467539
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr)	SNV Germline	Chr2:39023118	Pathogenic/Likely pathogenic	Noonan syndrome Condition: not provided RASopathy Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype Noonan syndrome 4 Male subfertility Fibromatosis, gingival, 1 Noonan syndrome 4	Criteria Provided Multiple Submitters No Conflicts	CA261719	rs_397517150	14 SubmittersRCV000038516 RCV000159164 RCV000474085 RCV001813354 RCV002381310 RCV002467540 RCV003991573 RCV003224124
NM_005633.4(SOS1):c.244A>G (p.Ile82Val)	SNV Germline	Chr2:39058774	Conflicting classifications of pathogenicity	not specified RASopathy Condition: not provided Noonan syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA136101	rs_397517157	5 SubmittersRCV000038533 RCV000541335 RCV000680318 RCV001261067 RCV002444485
NM_005633.4(SOS1):c.2966G>A (p.Arg989Lys)	SNV Germline	Chr2:38997037	Conflicting classifications of pathogenicity	not specified RASopathy Condition: not provided Fibromatosis, gingival, 1 Noonan syndrome 4 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA136120	rs_202043599	7 SubmittersRCV000038541 RCV000654932 RCV000586941 RCV001143052 RCV001138300 RCV002433506
NM_005633.4(SOS1):c.3022T>C (p.Tyr1008His)	SNV Germline	Chr2:38996981	Likely pathogenic	Noonan syndrome	Criteria Provided Single Submitter	CA261736	rs_397517163	1 SubmittersRCV000038544
NM_005633.4(SOS1):c.335C>G (p.Pro112Arg)	SNV Germline	Chr2:39058683	Likely pathogenic	Noonan syndrome	Criteria Provided Single Submitter	CA261741	rs_397517166	1 SubmittersRCV000038549
NM_005633.4(SOS1):c.3600C>A (p.Asp1200Glu)	SNV Germline	Chr2:38986226	Conflicting classifications of pathogenicity	not specified Noonan syndrome 4 RASopathy	Criteria Provided Conflicting Classifications	CA136143	rs_141594736	3 SubmittersRCV000038553 RCV002272040 RCV003539774
NM_005633.4(SOS1):c.512T>C (p.Val171Ala)	SNV Germline	Chr2:39054822	Likely pathogenic	Noonan syndrome Noonan syndrome and Noonan-related syndrome Condition: not provided	Reviewed By Expert Panel	CA261743	rs_397517174	3 SubmittersRCV000038562 RCV000788003 RCV001781357
NM_005633.4(SOS1):c.925G>T (p.Asp309Tyr)	SNV Germline	Chr2:39035440	Pathogenic	Noonan syndrome Condition: not provided RASopathy Noonan syndrome and Noonan-related syndrome Noonan syndrome 4	Criteria Provided Multiple Submitters No Conflicts	CA261746	rs_397517180	7 SubmittersRCV000038575 RCV000255002 RCV001852808 RCV001813362 RCV002255093
NM_005633.4(SOS1):c.929G>A (p.Arg310His)	SNV Germline	Chr2:39035436	Conflicting classifications of pathogenicity	not specified Noonan syndrome 4 Fibromatosis, gingival, 1 RASopathy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA136190	rs_143481916	5 SubmittersRCV000038577 RCV000349172 RCV000394772 RCV001366413 RCV001567493 RCV002371837
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile)	SNV Germline	Chr15:38299464	Conflicting classifications of pathogenicity	not specified Condition: not provided Legius syndrome Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA142270	rs_147204964	6 SubmittersRCV000041238 RCV000586558 RCV001086208 RCV001813367 RCV002399395
NM_004333.6(BRAF):c.741T>G (p.Phe247Leu)	SNV Germline	Chr7:140801531	Pathogenic	Condition: not provided Noonan syndrome and Noonan-related syndrome Noonan syndrome RASopathy	Reviewed By Expert Panel	CA284654	rs_397509343	5 SubmittersRCV000049222 RCV000788009 RCV000824914 RCV001384671
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val)	SNV Germline	Chr12:112450359	Pathogenic/Likely pathogenic	Condition: not provided Noonan syndrome 1 Noonan syndrome and Noonan-related syndrome See cases RASopathy Noonan syndrome 1 LEOPARD syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA284662	rs_397507509	9 SubmittersRCV000049228 RCV000414941 RCV001813372 RCV002287357 RCV002513672 RCV003224860
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly)	SNV Germline	Chr1:155904798	Pathogenic	Noonan syndrome 8 Condition: not provided Noonan syndrome Noonan syndrome 1 RASopathy Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype RIT1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA144537	rs_672601334	20 SubmittersRCV000054404 RCV000159100 RCV000207349 RCV000856747 RCV001731346 RCV001813373 RCV002399414 RCV003390753
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala)	SNV Germline	Chr1:155904456	Pathogenic	Noonan syndrome 8 Noonan syndrome Condition: not provided RASopathy Noonan syndrome and Noonan-related syndrome RIT1-related disorder Cardiovascular phenotype Noonan syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA144538	rs_672601335	22 SubmittersRCV000054407 RCV000207348 RCV000298790 RCV001192384 RCV001813374 RCV003915017 RCV002433549 RCV003450918
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)	SNV Germline	Chr17:31225134	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Tibial pseudarthrosis Neurofibromatosis, type 1 Neurofibromatosis, type 1 Café-au-lait macules with pulmonary stenosis Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 NF1-related disorder Gastric cancer	Criteria Provided Conflicting Classifications	CA165914	rs_199474738	18 SubmittersRCV000059160 RCV000130191 RCV000506837 RCV001009575 RCV000206280 RCV001535533 RCV004549489 RCV003162463
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)	SNV Germline	Chr17:31229155	Pathogenic/Likely pathogenic	Condition: not provided Neurofibromatosis, type 1 not specified Hereditary cancer-predisposing syndrome Atypical coarctation of aorta Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome Gastric cancer Juvenile myelomonocytic leukemia	Criteria Provided Multiple Submitters No Conflicts	CA219477	rs_199474747	19 SubmittersRCV000059175 RCV000205919 RCV000507716 RCV000492608 RCV000845192 RCV002054910 RCV002453378 RCV003162464 RCV003460651
NM_001042492.3(NF1):c.2543G>A (p.Gly848Glu)	SNV Germline	Chr17:31229158	Pathogenic	Condition: not provided Neurofibromatosis, type 1 Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Neurofibromatosis, type 1	Criteria Provided Multiple Submitters No Conflicts	CA219481	rs_199474748	5 SubmittersRCV000059176 RCV000687480 RCV002490663
NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro)	SNV Germline	Chr17:31229308	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Juvenile myelomonocytic leukemia	Criteria Provided Multiple Submitters No Conflicts	CA165101	rs_199474786	8 SubmittersRCV000059178 RCV000129792 RCV000823359 RCV002477208
NM_001042492.3(NF1):c.3610C>T (p.Arg1204Trp)	SNV Germline	Chr17:31233115	Pathogenic/Likely pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1	Criteria Provided Multiple Submitters No Conflicts	CA219534	rs_199474732	6 SubmittersRCV000059190 RCV002318950 RCV003338403 RCV000696613
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln)	SNV Germline	Chr17:31235729	Pathogenic	Condition: not provided Neurofibromatosis, type 1 Café-au-lait macules with pulmonary stenosis Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Cardiovascular phenotype Café-au-lait macules with pulmonary stenosis Neurofibromatosis-Noonan syndrome Juvenile myelomonocytic leukemia Neurofibromatosis, familial spinal Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA219546	rs_137854556	22 SubmittersRCV000059193 RCV000213660 RCV000824729 RCV002318951 RCV000762988 RCV002470752
NM_006767.4(LZTR1):c.264-13G>A	SNV Germline	Chr22:20985828	Conflicting classifications of pathogenicity	Schwannomatosis 2 Condition: not provided RASopathy Cardiovascular phenotype Hereditary cancer-predisposing syndrome Developmental disorder Noonan syndrome 2 Schwannomatosis 2 Noonan syndrome 10	Criteria Provided Conflicting Classifications	CA150700	rs_587777176	12 SubmittersRCV000087292 RCV001291541 RCV001192873 RCV002426650 RCV003126498 RCV002498472
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln)	SNV Germline	Chr22:20993967	Likely pathogenic	Schwannomatosis 2 Schwannomatosis Noonan syndrome and Noonan-related syndrome Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA150704	rs_587777180	8 SubmittersRCV000087296 RCV001260384 RCV001813376 RCV001312780 RCV002390252
NM_002880.4(RAF1):c.782C>T (p.Pro261Leu)	SNV Germline/somatic	Chr3:12604188	Pathogenic/Likely pathogenic	Noonan syndrome 5 Noonan syndrome Condition: not provided RASopathy Dilated cardiomyopathy 1NN Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA267618	rs_397516828	7 SubmittersRCV000106325 RCV000211850 RCV000519236 RCV001221447 RCV001542564 RCV004019594
NM_005633.4(SOS1):c.2138G>A (p.Arg713Gln)	SNV Germline	Chr2:39013489	Conflicting classifications of pathogenicity	Noonan syndrome 4 Condition: not provided RASopathy Fibromatosis, gingival, 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA267620	rs_483352826	5 SubmittersRCV000106329 RCV000414070 RCV001344369 RCV002467565 RCV004019595
NM_006912.6(RIT1):c.270G>A (p.Met90Ile)	SNV Germline	Chr1:155904470	Pathogenic/Likely pathogenic	Noonan syndrome 8 Noonan syndrome Condition: not provided Noonan syndrome and Noonan-related syndrome RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA150798	rs_483352822	9 SubmittersRCV000106331 RCV000220792 RCV000301748 RCV001813378 RCV001844039
NM_004333.6(BRAF):c.72G>C (p.Glu24Asp)	SNV Germline	Chr7:140924632	Conflicting classifications of pathogenicity	not specified Condition: not provided Noonan syndrome 7 LEOPARD syndrome 3 RASopathy	Criteria Provided Conflicting Classifications	CA157471	rs_587778114	5 SubmittersRCV000120256 RCV000680282 RCV001160945 RCV001160944 RCV001222521
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe)	SNV Germline	Chr17:31225243	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Condition: not provided Neurofibromatosis, familial spinal Café-au-lait macules with pulmonary stenosis Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA161015	rs_145891889	19 SubmittersRCV000121628 RCV000129662 RCV000200171 RCV001124836 RCV000587577 RCV001124835 RCV001124837 RCV004558311
NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser)	SNV Germline	Chr17:31225143	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 not specified Neurofibromatosis, familial spinal Neurofibromatosis, type 1 Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA161025	rs_370789267	10 SubmittersRCV000220588 RCV000234708 RCV000121630 RCV002483222 RCV000712402 RCV004558312
NM_030662.4(MAP2K2):c.1005C>T (p.Asn335=)	SNV Germline	Chr19:4095429	Conflicting classifications of pathogenicity	not specified Cardiovascular phenotype RASopathy Noonan syndrome and Noonan-related syndrome	Criteria Provided Conflicting Classifications	CA292000	rs_587781028	4 SubmittersRCV000126679 RCV002408633 RCV003654206 RCV001813387
NM_002524.5(NRAS):c.112-8A>G	SNV Germline	Chr1:114713986	Conflicting classifications of pathogenicity	not specified Noonan syndrome 6 Condition: not provided Noonan syndrome and Noonan-related syndrome RASopathy NRAS-related disorder	Criteria Provided Conflicting Classifications	CA292582	rs_9724626	7 SubmittersRCV000127228 RCV001101050 RCV000588495 RCV001813388 RCV001089307 RCV003905211
NM_002834.5(PTPN11):c.*50C>T	SNV Germline	Chr12:112505842	Conflicting classifications of pathogenicity	not specified Metachondromatosis Noonan syndrome 1 LEOPARD syndrome 1 PTPN11-related disorder	Criteria Provided Conflicting Classifications	CA292977	rs_730880328	3 SubmittersRCV000127659 RCV000270635 RCV000328023 RCV000385112 RCV004532530
NM_007373.4(SHOC2):c.-244G>T	SNV Germline	Chr10:110919648	Conflicting classifications of pathogenicity	not specified Noonan syndrome-like disorder with loose anagen hair 1	Criteria Provided Conflicting Classifications	CA293478	rs_192673935	2 SubmittersRCV000128038 RCV001103679
NM_005633.4(SOS1):c.1953A>G (p.Pro651=)	SNV Germline	Chr2:39013977	Conflicting classifications of pathogenicity	not specified Condition: not provided Noonan syndrome and Noonan-related syndrome RASopathy Cardiovascular phenotype SOS1-related disorder	Criteria Provided Conflicting Classifications	CA200951	rs_141507912	8 SubmittersRCV000174343 RCV000587965 RCV001813392 RCV001089232 RCV002415621 RCV003965071
NM_005633.4(SOS1):c.1989A>C (p.Ile663=)	SNV Germline	Chr2:39013941	Conflicting classifications of pathogenicity	not specified Noonan syndrome Gingival fibromatosis RASopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA293647	rs_587781172	4 SubmittersRCV000128181 RCV000266750 RCV000324479 RCV002514700 RCV003162570
NM_005633.4(SOS1):c.3585A>G (p.Arg1195=)	SNV Germline	Chr2:38986241	Conflicting classifications of pathogenicity	not specified Noonan syndrome 4 Cardiovascular phenotype RASopathy Fibromatosis, gingival, 1	Criteria Provided Conflicting Classifications	CA293651	rs_587781173	4 SubmittersRCV000128189 RCV001141204 RCV002460045 RCV003539798 RCV001141205
NM_001042492.3(NF1):c.231A>T (p.Lys77Asn)	SNV Germline	Chr17:31159036	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Condition: not provided Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA164511	rs_373563053	5 SubmittersRCV000129481 RCV000205241 RCV001808397 RCV002478386 RCV002453460
NM_001042492.3(NF1):c.4526G>A (p.Arg1509His)	SNV Germline	Chr17:31260464	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 not specified Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis	Criteria Provided Conflicting Classifications	CA165109	rs_546073780	9 SubmittersRCV000129797 RCV000205307 RCV001818305 RCV000680997 RCV002326843 RCV003483497
NM_001042492.3(NF1):c.575G>A (p.Arg192Gln)	SNV Germline	Chr17:31169986	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA165152	rs_587781670	5 SubmittersRCV000129826 RCV000476088 RCV000765343 RCV001549489 RCV002345443
NM_001042492.3(NF1):c.5289A>G (p.Gln1763=)	SNV Germline	Chr17:31327519	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Condition: not provided Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA165305	rs_199703296	5 SubmittersRCV000129895 RCV000546358 RCV001588981 RCV002505106 RCV002336284
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile)	SNV Germline	Chr17:31232821	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 not specified Neurofibromatosis-Noonan syndrome Neurofibromatosis, familial spinal Café-au-lait macules with pulmonary stenosis Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA165440	rs_201047812	15 SubmittersRCV000129967 RCV000200527 RCV000612512 RCV001125917 RCV001125918 RCV001125919 RCV001594850 RCV004558326
NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser)	SNV Germline	Chr17:31258377	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Condition: not provided Café-au-lait macules with pulmonary stenosis Neurofibromatosis-Noonan syndrome Neurofibromatosis, familial spinal Hereditary cancer-predisposing syndrome Cardiovascular phenotype not specified NF1-related disorder Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Juvenile myelomonocytic leukemia	Criteria Provided Conflicting Classifications	CA166199	rs_138227618	9 SubmittersRCV000130328 RCV000197840 RCV000680999 RCV001126023 RCV001126022 RCV001126024 RCV002326844 RCV001824642 RCV004551254 RCV002498641
NM_001042492.3(NF1):c.3604G>T (p.Ala1202Ser)	SNV Germline	Chr17:31233109	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Condition: not provided Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome	Criteria Provided Conflicting Classifications	CA166289	rs_146641724	7 SubmittersRCV000130378 RCV000206873 RCV000680625 RCV000764108 RCV002453461 RCV003330502
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile)	SNV Germline	Chr17:31352319	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Neurofibromatosis, type 1 not specified Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA166586	rs_149055633	6 SubmittersRCV000130522 RCV000421743 RCV000475666 RCV001818315 RCV000764117 RCV002381447
NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val)	SNV Germline	Chr17:31358550	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Café-au-lait macules with pulmonary stenosis not specified Neurofibromatosis-Noonan syndrome NF1-related disorder Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA166728	rs_146315101	9 SubmittersRCV000130596 RCV000430382 RCV001082766 RCV001128479 RCV001128481 RCV001797634 RCV001128480 RCV004551256 RCV004558333
NM_001042492.3(NF1):c.1166A>G (p.His389Arg)	SNV Germline	Chr17:31201140	Conflicting classifications of pathogenicity	Neurofibromatosis, type 1 Condition: not provided Atypical coarctation of aorta Neurofibromatosis, familial spinal Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA167012	rs_149739570	9 SubmittersRCV000204985 RCV000680982 RCV000845190 RCV001121970 RCV000708723 RCV000765345 RCV001121969 RCV001121971 RCV002326845
NM_002880.4(RAF1):c.709G>A (p.Ala237Thr)	SNV Germline	Chr3:12604261	Conflicting classifications of pathogenicity	Dilated cardiomyopathy 1NN Condition: not provided Noonan syndrome 5 RASopathy	Criteria Provided Conflicting Classifications	CA167984	rs_587777588	4 SubmittersRCV000131337 RCV001588987 RCV001775085 RCV001857459
NM_001042492.3(NF1):c.1801C>T (p.Arg601Trp)	SNV Germline	Chr17:31223523	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Juvenile myelomonocytic leukemia Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA168912	rs_587782592	4 SubmittersRCV000131934 RCV000470005 RCV002483268 RCV004558339
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys)	SNV Germline	Chr17:31327743	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Condition: not provided Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Neurofibromatosis, type 1 Café-au-lait macules with pulmonary stenosis Neurofibromatosis-Noonan syndrome Neurofibromatosis, familial spinal Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA169448	rs_368654378	9 SubmittersRCV000132225 RCV000168027 RCV000484858 RCV000515448 RCV001128217 RCV001128218 RCV001128219 RCV002345446
NM_002880.4(RAF1):c.1172G>T (p.Arg391Met)	SNV Germline	Chr3:12591729	Conflicting classifications of pathogenicity	Noonan syndrome	No Assertion Criteria Provided	CA345872	rs_587782972	2 SubmittersRCV000143944
NM_005343.4(HRAS):c.182A>G (p.Gln61Arg)	SNV Germline/somatic	Chr11:533874	Likely pathogenic	Linear nevus sebaceous syndrome Condition: not provided Thyroid tumor Neoplasm Vascular Tumors Including Pyogenic Granuloma Noonan syndrome and Noonan-related syndrome Salivary gland neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA173968	rs_121913233	6 SubmittersRCV000148033 RCV000157918 RCV000418550 RCV000437086 RCV000662268 RCV001813393 RCV001844808
NM_002524.5(NRAS):c.553C>T (p.Pro185Ser)	SNV Germline	Chr1:114708552	Conflicting classifications of pathogenicity	not specified Noonan syndrome 6 RASopathy Noonan syndrome NRAS-related disorder	Criteria Provided Conflicting Classifications	CA183538	rs_374061873	7 SubmittersRCV000155806 RCV000373742 RCV000654962 RCV001261093 RCV003945240
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_005633.4(SOS1):c.3706C>A (p.Pro1236Thr)	SNV Germline	Chr2:38986120	Conflicting classifications of pathogenicity	not specified Condition: not provided Noonan syndrome 4 Cardiovascular phenotype RASopathy	Criteria Provided Conflicting Classifications	CA183755	rs_727504636	6 SubmittersRCV000155897 RCV000680364 RCV002291573 RCV002345510 RCV001857535
NM_005633.4(SOS1):c.1867T>G (p.Phe623Val)	SNV Germline	Chr2:39014838	Conflicting classifications of pathogenicity	Noonan syndrome Condition: not provided not specified RASopathy	Criteria Provided Conflicting Classifications	CA185039	rs_727505093	4 SubmittersRCV000156537 RCV000414349 RCV000770761 RCV000793245
NM_005633.4(SOS1):c.1720G>A (p.Val574Ile)	SNV Germline	Chr2:39022708	Conflicting classifications of pathogenicity	not specified Noonan syndrome 4 Fibromatosis, gingival, 1 Condition: not provided RASopathy Fibromatosis, gingival, 1 Noonan syndrome 4 Brugada syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA183765	rs_727504641	9 SubmittersRCV000155902 RCV000284494 RCV000376698 RCV000586070 RCV000654926 RCV000764405 RCV003448272 RCV003298167
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys)	SNV Germline	Chr3:12584929	Conflicting classifications of pathogenicity	not specified Noonan syndrome 5 LEOPARD syndrome 2 Primary familial hypertrophic cardiomyopathy RASopathy Noonan syndrome Condition: not provided Cardiovascular phenotype RAF1-related disorder	Criteria Provided Conflicting Classifications	CA180851	rs_370242565	11 SubmittersRCV000154479 RCV000309941 RCV000407178 RCV000623835 RCV000692399 RCV001543110 RCV001719956 RCV002399538 RCV004544406
NM_002880.4(RAF1):c.285C>G (p.Cys95Trp)	SNV Germline	Chr3:12611985	Likely pathogenic	Noonan syndrome	Criteria Provided Single Submitter	CA273221	rs_727503384	1 SubmittersRCV000151719
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe)	SNV Germline	Chr7:140778053	Pathogenic	RASopathy Noonan syndrome Cardio-facio-cutaneous syndrome Noonan syndrome Cardio-facio-cutaneous syndrome Condition: not provided	Reviewed By Expert Panel	CA280060	rs_180177036	6 SubmittersRCV000154481 RCV000844617 RCV000824921 RCV001192586 RCV003317101
NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp)	SNV Germline	Chr7:140734763	Pathogenic/Likely pathogenic	Noonan syndrome Cardio-facio-cutaneous syndrome Condition: not provided Noonan syndrome 6 conditions RASopathy Noonan syndrome 7	Criteria Provided Multiple Submitters No Conflicts	CA273127	rs_727502904	7 SubmittersRCV000150197 RCV000788373 RCV000824929 RCV003224801 RCV001850036 RCV001374414
NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu)	SNV Germline	Chr7:140749365	Pathogenic	Cardio-facio-cutaneous syndrome Condition: not provided Inborn genetic diseases Cardiofaciocutaneous syndrome 1 Noonan syndrome 1 RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA280051	rs_180177042	12 SubmittersRCV000150199 RCV000157831 RCV000624589 RCV000767527 RCV000999624 RCV000689333
NM_004333.6(BRAF):c.1449A>C (p.Lys483Asn)	SNV Germline	Chr7:140778059	Likely pathogenic	Noonan syndrome Cardio-facio-cutaneous syndrome	Criteria Provided Single Submitter	CA273507	rs_727504375	1 SubmittersRCV000154526
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_007373.4(SHOC2):c.170C>T (p.Ser57Phe)	SNV Germline	Chr10:110964528	Conflicting classifications of pathogenicity	not specified RASopathy Condition: not provided Noonan syndrome-like disorder with loose anagen hair 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA185080	rs_536611911	7 SubmittersRCV000156558 RCV000471315 RCV000680347 RCV001803094 RCV002399558
NM_005188.4(CBL):c.2359C>T (p.Arg787Cys)	SNV Germline	Chr11:119298465	Conflicting classifications of pathogenicity	not specified RASopathy Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype CBL-related disorder	Criteria Provided Conflicting Classifications	CA181178	rs_143132980	5 SubmittersRCV000154692 RCV000555815 RCV001813399 RCV002444637 RCV004544410
NM_005188.4(CBL):c.1099C>A (p.Gln367Lys)	SNV Germline	Chr11:119278169	Conflicting classifications of pathogenicity	Noonan syndrome Inborn genetic diseases RASopathy	Criteria Provided Conflicting Classifications	CA183197	rs_727504504	3 SubmittersRCV000155642 RCV001265817 RCV002514998
NM_005188.4(CBL):c.1228-2A>G	SNV Germline/somatic	Chr11:119278508	Pathogenic/Likely pathogenic	Noonan syndrome Condition: not provided Juvenile myelomonocytic leukemia RASopathy Malignant germ cell tumor of ovary Noonan syndrome-like disorder with juvenile myelomonocytic leukemia CBL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA181066	rs_727504426	7 SubmittersRCV000154623 RCV000157861 RCV000220945 RCV000705134 RCV000722039 RCV001678585 RCV001808423
NM_002834.5(PTPN11):c.206A>T (p.Glu69Val)	SNV Germline	Chr12:112450386	Pathogenic/Likely pathogenic	Noonan syndrome Noonan syndrome 3 Metachondromatosis Noonan syndrome 1 LEOPARD syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA177668	rs_727503380	3 SubmittersRCV000151687 RCV000589756 RCV004562307 RCV004562306 RCV004562308
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu)	SNV Germline	Chr12:112502226	Conflicting classifications of pathogenicity	not specified Juvenile myelomonocytic leukemia Metachondromatosis LEOPARD syndrome 1 Noonan syndrome 1 Condition: not provided RASopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA180941	rs_141140214	8 SubmittersRCV000154538 RCV000515184 RCV000680301 RCV000690056 RCV002399540
NM_002834.5(PTPN11):c.182A>C (p.Asp61Ala)	SNV Germline	Chr12:112450362	Pathogenic/Likely pathogenic	Noonan syndrome RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA273600	rs_121918461	2 SubmittersRCV000156008 RCV000780656
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr)	SNV Germline/somatic	Chr12:112450394	Pathogenic/Likely pathogenic	RASopathy Neuroblastoma Neoplasm of brain Acute myeloid leukemia B-cell chronic lymphocytic leukemia Condition: not provided Noonan syndrome Juvenile myelomonocytic leukemia Noonan syndrome 1 Noonan syndrome and Noonan-related syndrome	Criteria Provided Multiple Submitters No Conflicts	CA180706	rs_121918453	8 SubmittersRCV000154367 RCV000417864 RCV000425277 RCV000443279 RCV000435950 RCV000680626 RCV000824740 RCV000995620 RCV001813395
NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr)	SNV Germline	Chr12:112454636	Pathogenic/Likely pathogenic	Noonan syndrome RASopathy Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA273218	rs_727503381	5 SubmittersRCV000151696 RCV000654965 RCV000380092
NM_004985.5(KRAS):c.466T>A (p.Phe156Ile)	SNV Germline	Chr12:25209896	Pathogenic	Noonan syndrome Cardio-facio-cutaneous syndrome Condition: not provided Noonan syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA273160	rs_397517042	3 SubmittersRCV000150884 RCV000493013 RCV001813760
NM_004985.5(KRAS):c.214A>T (p.Met72Leu)	SNV Germline	Chr12:25227310	Pathogenic/Likely pathogenic	Noonan syndrome RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA273592	rs_727504662	3 SubmittersRCV000155926 RCV001857536
NM_004985.5(KRAS):c.108A>G (p.Ile36Met)	SNV Germline	Chr12:25245277	Pathogenic/Likely pathogenic	RASopathy Condition: not provided Noonan syndrome Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 1 Cardiovascular phenotype KRAS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA273162	rs_727503109	11 SubmittersRCV000150891 RCV000260877 RCV000844636 RCV000856729 RCV002444616 RCV004551310
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_152594.3(SPRED1):c.702C>G (p.Ile234Met)	SNV Germline	Chr15:38351031	Conflicting classifications of pathogenicity	not specified Legius syndrome Noonan syndrome and Noonan-related syndrome SPRED1-related disorder	Criteria Provided Conflicting Classifications	CA178031	rs_138553244	7 SubmittersRCV000151932 RCV000340177 RCV001813394 RCV003975184
NM_030662.4(MAP2K2):c.401A>G (p.Tyr134Cys)	SNV Germline	Chr19:4110558	Pathogenic	RASopathy Cardio-facio-cutaneous syndrome Condition: not provided Noonan syndrome Cardio-facio-cutaneous syndrome Noonan syndrome 1	Reviewed By Expert Panel	CA180890	rs_727504370	6 SubmittersRCV000154507 RCV000208747 RCV000412815 RCV000844676 RCV003453160
NM_030662.4(MAP2K2):c.93-6C>T	SNV Germline	Chr19:4117635	Conflicting classifications of pathogenicity	not specified RASopathy Condition: not provided Noonan syndrome and Noonan-related syndrome	Criteria Provided Conflicting Classifications	CA184327	rs_727504836	5 SubmittersRCV000156178 RCV000465734 RCV001711316 RCV001813405
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala)	SNV Germline	Chr15:38351255	Conflicting classifications of pathogenicity	not specified Legius syndrome Condition: not provided Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA181530	rs_114636635	9 SubmittersRCV000154849 RCV000456632 RCV000586323 RCV001813401 RCV004019853
NM_152594.3(SPRED1):c.229A>T (p.Lys77Ter)	SNV Germline	Chr15:38322262	Pathogenic	Noonan syndrome and Noonan-related syndrome Legius syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_727504170	2 SubmittersRCV001813725 RCV002541493
NM_002755.4(MAP2K1):c.608A>G (p.Glu203Gly)	SNV Germline	Chr15:66481794	Pathogenic	Condition: not provided Noonan syndrome RASopathy	Reviewed By Expert Panel	CA234222	rs_727503996	4 SubmittersRCV000153454 RCV000824938 RCV001250390
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)	SNV Germline	Chr1:155904494	Pathogenic/Likely pathogenic	Noonan syndrome 8 Condition: not provided Noonan syndrome RASopathy Non-immune hydrops fetalis Noonan syndrome and Noonan-related syndrome Congenital heart disease Noonan syndrome RIT1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA297161	rs_730881014	17 SubmittersRCV000054406 RCV000159101 RCV000207343 RCV001255602 RCV001375970 RCV001813414 RCV003483526 RCV003398818
NM_005633.4(SOS1):c.3956T>G (p.Met1319Arg)	SNV Germline	Chr2:38985870	Conflicting classifications of pathogenicity	Condition: not provided Fibromatosis, gingival, 1 Noonan syndrome 4 RASopathy	Criteria Provided Conflicting Classifications	CA297241	rs_730881036	3 SubmittersRCV000159146 RCV002492631 RCV002516398
NM_005633.4(SOS1):c.3857C>T (p.Ser1286Phe)	SNV Germline	Chr2:38985969	Conflicting classifications of pathogenicity	not specified RASopathy Cardiovascular phenotype Fibromatosis, gingival, 1 Noonan syndrome 4 Fibromatosis, gingival, 1 Noonan syndrome 4 Condition: not provided	Criteria Provided Conflicting Classifications		rs_374341202	6 SubmittersRCV000781875 RCV001242518 RCV002354393 RCV002484991 RCV002467622 RCV002467623 RCV004567180
NM_005633.4(SOS1):c.3412A>G (p.Ile1138Val)	SNV Germline	Chr2:38987571	Conflicting classifications of pathogenicity	Condition: not provided RASopathy not specified Noonan syndrome 4 Cardiovascular phenotype Fibromatosis, gingival, 1	Criteria Provided Conflicting Classifications	CA297234	rs_56248239	6 SubmittersRCV000587119 RCV000697593 RCV000722119 RCV002467630 RCV002453553 RCV002467629
NM_005633.4(SOS1):c.3329C>G (p.Ser1110Trp)	SNV Germline	Chr2:38995140	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype RASopathy Fibromatosis, gingival, 1 Noonan syndrome 4	Criteria Provided Conflicting Classifications	CA297231	rs_572955351	4 SubmittersRCV000159139 RCV002321669 RCV002516397 RCV002467627 RCV002467628
NM_005633.4(SOS1):c.1430A>G (p.Gln477Arg)	SNV Germline	Chr2:39022998	Pathogenic/Likely pathogenic	Condition: not provided Fibromatosis, gingival, 1 Noonan syndrome 4	Criteria Provided Multiple Submitters No Conflicts	CA297270	rs_730881044	2 SubmittersRCV000159168 RCV003224178
NM_005633.4(SOS1):c.1310T>G (p.Ile437Ser)	SNV Germline	Chr2:39023118	Pathogenic/Likely pathogenic	Condition: not provided RASopathy Noonan syndrome Noonan syndrome 4	Criteria Provided Multiple Submitters No Conflicts	CA297264	rs_397517150	4 SubmittersRCV000159165 RCV001379728 RCV001261079 RCV002467633
NM_005633.4(SOS1):c.1271A>G (p.Glu424Gly)	SNV Germline	Chr2:39023157	Conflicting classifications of pathogenicity	Condition: not provided RASopathy Noonan syndrome 4 Cardiovascular phenotype Fibromatosis, gingival, 1	Criteria Provided Conflicting Classifications	CA297261	rs_730881042	5 SubmittersRCV000159160 RCV000795849 RCV001330104 RCV002372038 RCV002467632
NM_004333.6(BRAF):c.1742-10T>G	SNV Germline	Chr7:140753403	Conflicting classifications of pathogenicity	Condition: not provided RASopathy Noonan syndrome and Noonan-related syndrome	Criteria Provided Conflicting Classifications	CA295899	rs_730880411	3 SubmittersRCV000157812 RCV001294403 RCV001813406
NM_004333.6(BRAF):c.739T>C (p.Phe247Leu)	SNV Germline	Chr7:140801533	Pathogenic	Condition: not provided Noonan syndrome and Noonan-related syndrome Noonan syndrome RASopathy Noonan syndrome 7 Noonan syndrome 1 Cardiofaciocutaneous syndrome 1 Cardiofaciocutaneous syndrome 1	Reviewed By Expert Panel	CA295904	rs_397516903	7 SubmittersRCV000157818 RCV000788010 RCV000824913 RCV000809145 RCV001808428 RCV001803101 RCV003992202
NM_007373.4(SHOC2):c.355A>G (p.Ile119Val)	SNV Germline	Chr10:110964713	Conflicting classifications of pathogenicity	RASopathy Noonan syndrome-like disorder with loose anagen hair 1 Noonan syndrome and Noonan-related syndrome Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA297175	rs_147068827	5 SubmittersRCV000466484 RCV000763645 RCV001813417 RCV002262761 RCV002336368
NM_005188.4(CBL):c.1096-1G>T	SNV Germline	Chr11:119278165	Pathogenic	Condition: not provided Noonan syndrome RASopathy Fragile site 11b CBL-related disorder CBL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA295986	rs_397517076	5 SubmittersRCV000157858 RCV000217231 RCV000702743 RCV001249230 RCV003989335
NM_005188.4(CBL):c.1111T>A (p.Tyr371Asn)	SNV Germline	Chr11:119278181	Pathogenic/Likely pathogenic	not specified Noonan syndrome 1 CBL-related disorder Neurodevelopmental disorder RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA296015	rs_267606706	5 SubmittersRCV000506397 RCV000856726 RCV001814073 RCV002277316 RCV003539801
NM_005188.4(CBL):c.2060C>T (p.Pro687Leu)	SNV Germline	Chr11:119296941	Conflicting classifications of pathogenicity	CBL-related disorder RASopathy not specified Noonan syndrome and Noonan-related syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA296005	rs_146705974	8 SubmittersRCV000287851 RCV000654929 RCV001280639 RCV001813408 RCV001704138
NM_002834.5(PTPN11):c.226G>C (p.Glu76Gln)	SNV Germline	Chr12:112450406	Pathogenic/Likely pathogenic	Condition: not provided Noonan syndrome and Noonan-related syndrome Noonan syndrome 1 RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA297076	rs_121918464	5 SubmittersRCV000159045 RCV001813410 RCV002288669 RCV002281971
NM_002834.5(PTPN11):c.854T>A (p.Phe285Tyr)	SNV Germline	Chr12:112477651	Pathogenic/Likely pathogenic	Condition: not provided RASopathy Noonan syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA297085	rs_121918463	4 SubmittersRCV000159051 RCV001526955 RCV001261017 RCV002408715
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser)	SNV Germline	Chr12:112477690	Conflicting classifications of pathogenicity	Condition: not provided Cardio-facio-cutaneous syndrome RASopathy not specified Cardiovascular phenotype Noonan syndrome 1 Juvenile myelomonocytic leukemia LEOPARD syndrome 1 Metachondromatosis	Criteria Provided Conflicting Classifications	CA297088	rs_572274623	6 SubmittersRCV000159053 RCV000208167 RCV001850234 RCV001844054 RCV002372037 RCV002492630
NM_002834.5(PTPN11):c.1471C>G (p.Pro491Ala)	SNV Germline	Chr12:112489047	Conflicting classifications of pathogenicity	Noonan syndrome 1 Noonan syndrome Noonan syndrome and Noonan-related syndrome RASopathy Astrocytic tumor Condition: not provided	Criteria Provided Conflicting Classifications	CA297097	rs_397507539	6 SubmittersRCV001002766 RCV001261020 RCV001813411 RCV002515083 RCV003764999 RCV000159056
NM_006912.6(RIT1):c.265T>C (p.Tyr89His)	SNV Germline	Chr1:155904475	Pathogenic	Noonan syndrome Condition: not provided Noonan syndrome 8 Noonan syndrome and Noonan-related syndrome RIT1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA353873	rs_869025197	7 SubmittersRCV000207342 RCV000486847 RCV000707713 RCV001813421 RCV003965185
NM_006912.6(RIT1):c.251C>T (p.Ala84Val)	SNV Germline	Chr1:155904489	Pathogenic/Likely pathogenic	Noonan syndrome Condition: not provided Noonan syndrome 8 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA353881	rs_869025196	6 SubmittersRCV000207351 RCV000492853 RCV001384932 RCV003162683
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro)	SNV Germline	Chr1:155904493	Pathogenic	Noonan syndrome Condition: not provided Inborn genetic diseases Noonan syndrome 1 RASopathy Noonan syndrome 8	Criteria Provided Multiple Submitters No Conflicts	CA353876	rs_869025195	9 SubmittersRCV000207345 RCV000414438 RCV000622399 RCV000856766 RCV001175490 RCV001384933
NM_006912.6(RIT1):c.244T>G (p.Phe82Val)	SNV Germline	Chr1:155904496	Pathogenic	Noonan syndrome 8 Noonan syndrome Condition: not provided Noonan syndrome and Noonan-related syndrome RASopathy Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA353883	rs_869025194	15 SubmittersRCV000170492 RCV000207352 RCV000263369 RCV001813420 RCV001778757 RCV002453562
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu)	SNV Germline	Chr1:155904496	Pathogenic	Noonan syndrome Condition: not provided Noonan syndrome and Noonan-related syndrome RASopathy Noonan syndrome 8 RIT1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA353877	rs_869025194	14 SubmittersRCV000207346 RCV000254958 RCV001813419 RCV003317110 RCV001850287 RCV003927532
NM_006912.6(RIT1):c.244T>A (p.Phe82Ile)	SNV Germline	Chr1:155904496	Pathogenic	Noonan syndrome Noonan syndrome 8 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA353868	rs_869025194	5 SubmittersRCV000207338 RCV000226825 RCV001731491
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly)	SNV Germline	Chr1:155904498	Pathogenic/Likely pathogenic	Noonan syndrome 8 Condition: not provided Noonan syndrome not specified RASopathy Noonan syndrome and Noonan-related syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA353880	rs_869025193	15 SubmittersRCV000054405 RCV000255048 RCV000207350 RCV000508083 RCV001174556 RCV001813418 RCV001265779
NM_006912.6(RIT1):c.241G>C (p.Glu81Gln)	SNV Unknown	Chr1:155904499	Pathogenic	Noonan syndrome	No Assertion Criteria Provided	CA353878	rs_869025192	1 SubmittersRCV000207347
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr)	SNV Germline	Chr1:155904739	Pathogenic/Likely pathogenic	Noonan syndrome Condition: not provided Noonan syndrome 8 Noonan syndrome 1 RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA353870	rs_869025191	10 SubmittersRCV000207340 RCV000282691 RCV000578238 RCV000856755 RCV003114309
NM_006912.6(RIT1):c.104G>C (p.Ser35Thr)	SNV Germline	Chr1:155910658	Pathogenic	Noonan syndrome Condition: not provided Noonan syndrome 8 RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA353872	rs_869025189	8 SubmittersRCV000207341 RCV000255076 RCV000475746 RCV003235080
NM_001042492.3(NF1):c.55G>T (p.Glu19Ter)	SNV Germline	Chr17:31095364	Pathogenic	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Condition: not provided Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Juvenile myelomonocytic leukemia Neurofibromatosis, type 1	Criteria Provided Multiple Submitters No Conflicts	CA196174	rs_786203307	7 SubmittersRCV000166554 RCV000554192 RCV001799629 RCV003883138
NM_001042492.3(NF1):c.100G>A (p.Val34Ile)	SNV Germline	Chr17:31156022	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Neurofibromatosis, type 1 Juvenile myelomonocytic leukemia Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA193875	rs_772995929	4 SubmittersRCV000165635 RCV000534740 RCV002478510 RCV004558377
NM_001042492.3(NF1):c.354C>T (p.Cys118=)	SNV Germline	Chr17:31163251	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Neurofibromatosis, type 1 Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome not specified NF1-related disorder	Criteria Provided Conflicting Classifications	CA192349	rs_768777585	8 SubmittersRCV000165034 RCV000681114 RCV001080592 RCV001127656 RCV001127657 RCV001127658 RCV001251350 RCV004552899
NM_001042492.3(NF1):c.864G>C (p.Val288=)	SNV Germline	Chr17:31182641	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Café-au-lait macules with pulmonary stenosis Neurofibromatosis-Noonan syndrome	Criteria Provided Conflicting Classifications	CA190258	rs_201181517	3 SubmittersRCV000164185 RCV000549822 RCV001127746 RCV001127747 RCV001127748
NM_001042492.3(NF1):c.910C>T (p.Arg304Ter)	SNV Germline	Chr17:31200443	Pathogenic	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Condition: not provided not specified Juvenile myelomonocytic leukemia Neurofibromatosis, type 1 Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal NF1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA198406	rs_786203950	20 SubmittersRCV000167474 RCV000468520 RCV000579282 RCV000508304 RCV001294062 RCV002498830 RCV004552933
NM_001042492.3(NF1):c.1032A>G (p.Leu344=)	SNV Germline	Chr17:31200565	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal not specified	Criteria Provided Conflicting Classifications	CA188135	rs_199832006	9 SubmittersRCV000163379 RCV000679374 RCV001086621 RCV001121966 RCV001121967 RCV001121968 RCV001818365
NM_001042492.3(NF1):c.1308G>A (p.Ser436=)	SNV Germline	Chr17:31206287	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Neurofibromatosis, familial spinal Café-au-lait macules with pulmonary stenosis	Criteria Provided Conflicting Classifications	CA190911	rs_765425127	6 SubmittersRCV000164423 RCV000681012 RCV001084179 RCV001124738 RCV001124739 RCV001124740
NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg)	SNV Germline	Chr17:31225236	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome 10 conditions Neurofibromatosis, type 1 Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA188459	rs_140653372	7 SubmittersRCV000163499 RCV000415075 RCV000206471 RCV001124834 RCV001124832 RCV001124833 RCV001549334 RCV002415711
NM_001042492.3(NF1):c.2178G>C (p.Val726=)	SNV Germline	Chr17:31226611	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Neurofibromatosis, type 1 Café-au-lait macules with pulmonary stenosis Neurofibromatosis-Noonan syndrome Neurofibromatosis, familial spinal not specified NF1-related disorder	Criteria Provided Conflicting Classifications	CA188471	rs_369590240	7 SubmittersRCV000163502 RCV000420184 RCV001083588 RCV001127930 RCV001127931 RCV001127929 RCV001818366 RCV004551400
NM_001042492.3(NF1):c.2251+5A>G	SNV Germline	Chr17:31226689	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Juvenile myelomonocytic leukemia Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA191058	rs_786201934	4 SubmittersRCV000164471 RCV000800948 RCV002485017 RCV003162691
NM_001042492.3(NF1):c.2573C>G (p.Ser858Cys)	SNV Germline	Chr17:31229188	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Condition: not provided Neurofibromatosis, familial spinal Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Juvenile myelomonocytic leukemia Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA191732	rs_369493270	6 SubmittersRCV000164772 RCV000475700 RCV000681003 RCV001027838 RCV003224179 RCV004558365
NM_001042492.3(NF1):c.3213A>G (p.Ala1071=)	SNV Germline	Chr17:31232088	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal	Criteria Provided Conflicting Classifications	CA191602	rs_786202077	4 SubmittersRCV000164712 RCV000907557 RCV001124943 RCV001124941 RCV001124942
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=)	SNV Germline	Chr17:31235769	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 not specified Condition: not provided Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA188590	rs_138186428	15 SubmittersRCV000163550 RCV000198661 RCV000245250 RCV000514507 RCV001128022 RCV001128023 RCV001128024 RCV004558355
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala)	SNV Germline	Chr17:31235930	Conflicting classifications of pathogenicity	Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Juvenile myelomonocytic leukemia Condition: not provided not specified Café-au-lait macules with pulmonary stenosis Neurofibromatosis-Noonan syndrome Neurofibromatosis, familial spinal Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA192901	rs_143836226	12 SubmittersRCV000205468 RCV000165261 RCV000515307 RCV000680330 RCV000428670 RCV001122259 RCV001122260 RCV001122261 RCV002362857
NM_001042492.3(NF1):c.4111-4G>A	SNV Germline	Chr17:31252934	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal NF1-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA192105	rs_764877783	4 SubmittersRCV000164933 RCV002492658 RCV004552898 RCV003416039
NM_001042492.3(NF1):c.4749A>G (p.Glu1583=)	SNV Germline	Chr17:31265253	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA189401	rs_144091165	9 SubmittersRCV000163873 RCV000266821 RCV000360964 RCV000206001 RCV000269925 RCV000679394 RCV000604815
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=)	SNV Germline	Chr17:31326033	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided not specified Neurofibromatosis, type 1 Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome	Criteria Provided Conflicting Classifications	CA189791	rs_140994965	10 SubmittersRCV000164013 RCV000679396 RCV000781665 RCV001083508 RCV001126127 RCV001126128 RCV001126129
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln)	SNV Germline	Chr17:31327839	Pathogenic	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Condition: not provided Neurofibromatosis, type 1 Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Rhabdomyosarcoma Juvenile myelomonocytic leukemia Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA191710	rs_786202112	15 SubmittersRCV000164762 RCV000408787 RCV000494213 RCV000762993 RCV001257532 RCV003462148 RCV004558364
NM_001042492.3(NF1):c.5757G>A (p.Glu1919=)	SNV Germline	Chr17:31330443	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Neurofibromatosis, type 1 Condition: not provided Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis	Criteria Provided Conflicting Classifications	CA188125	rs_141077224	10 SubmittersRCV000163376 RCV000611445 RCV001083474 RCV000679401 RCV001122482 RCV001122483 RCV001122484
NM_001042492.3(NF1):c.5782G>T (p.Glu1928Ter)	SNV Germline	Chr17:31330468	Pathogenic	Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, type 1 Juvenile myelomonocytic leukemia Neurofibromatosis, type 1	Criteria Provided Multiple Submitters No Conflicts	CA198197	rs_786203896	4 SubmittersRCV000167400 RCV000762994 RCV002274922
NM_001042492.3(NF1):c.6555G>A (p.Arg2185=)	SNV Germline	Chr17:31337495	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Condition: not provided	Criteria Provided Conflicting Classifications	CA195752	rs_786203189	4 SubmittersRCV000166393 RCV000275738 RCV000315684 RCV000372613 RCV000330706 RCV001567747
NM_001042492.3(NF1):c.6665C>T (p.Thr2222Met)	SNV Germline	Chr17:31337841	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Condition: not provided Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Juvenile myelomonocytic leukemia Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA195062	rs_369803831	6 SubmittersRCV000166122 RCV000472540 RCV001582655 RCV002505211 RCV002372050
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter)	SNV Germline	Chr17:31338739	Pathogenic	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Condition: not provided Neurofibromatosis, type 1 Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Neurofibromatosis, type 1 Ewing sarcoma Gastric cancer Juvenile myelomonocytic leukemia NF1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA190957	rs_772295894	27 SubmittersRCV000164442 RCV000199249 RCV000489640 RCV000763393 RCV000851299 RCV003162690 RCV003467298 RCV004552888
NM_001042492.3(NF1):c.7003A>G (p.Thr2335Ala)	SNV Germline	Chr17:31340586	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Condition: not provided Neurofibromatosis, type 1 Juvenile myelomonocytic leukemia Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA195522	rs_370209920	5 SubmittersRCV000166305 RCV000476769 RCV001582656 RCV002498823 RCV004558391
NM_001042492.3(NF1):c.7026G>A (p.Leu2342=)	SNV Germline	Chr17:31340609	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 Neurofibromatosis, familial spinal not specified Condition: not provided NF1-related disorder	Criteria Provided Conflicting Classifications	CA189029	rs_371581213	10 SubmittersRCV000163716 RCV000353715 RCV000340759 RCV000394144 RCV000301011 RCV000616739 RCV002274959 RCV004551407
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val)	SNV Germline	Chr17:31349143	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Juvenile myelomonocytic leukemia Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA194028	rs_565708398	9 SubmittersRCV000165705 RCV000196434 RCV000515215 RCV001548376 RCV003162703 RCV001818383
NM_001042492.3(NF1):c.7246C>T (p.Leu2416=)	SNV Germline	Chr17:31349176	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Café-au-lait macules with pulmonary stenosis Neurofibromatosis-Noonan syndrome	Criteria Provided Conflicting Classifications	CA188027	rs_786201310	3 SubmittersRCV000163341 RCV000273660 RCV000401489 RCV000314078 RCV000371061
NM_001042492.3(NF1):c.7484C>T (p.Ser2495Phe)	SNV Germline	Chr17:31352283	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Condition: not provided Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Juvenile myelomonocytic leukemia Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA191368	rs_757245615	6 SubmittersRCV000164602 RCV000465877 RCV000681280 RCV002478504 RCV003162692
NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)	SNV Germline	Chr17:31357308	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Neurofibromatosis, type 1 Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Condition: not provided Neurofibromatosis, type 1 Tibial pseudarthrosis Neurofibromatosis-Noonan syndrome NF1-related disorder Juvenile myelomonocytic leukemia	Criteria Provided Multiple Submitters No Conflicts	CA188413	rs_786201367	22 SubmittersRCV000163482 RCV000196216 RCV000515434 RCV000599610 RCV001009586 RCV001808436 RCV004551398 RCV003462120
NM_001042492.3(NF1):c.8446G>A (p.Gly2816Arg)	SNV Germline	Chr17:31374081	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Cardiovascular phenotype Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Juvenile myelomonocytic leukemia not specified	Criteria Provided Conflicting Classifications	CA195946	rs_778233452	5 SubmittersRCV000166465 RCV000632473 RCV002433719 RCV002492669 RCV003488413
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)	SNV Germline	Chr17:31226474	Pathogenic	Neurofibromatosis, type 1 Condition: not provided Optic nerve glioma Axillary freckling Cafe-au-lait spot not specified Rhabdomyosarcoma Neurofibromatosis-Noonan syndrome Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA334507	rs_768638173	19 SubmittersRCV000168265 RCV000414746 RCV000415426 RCV000999937 RCV001257528 RCV001775088 RCV002313014
NM_006912.6(RIT1):c.270G>C (p.Met90Ile)	SNV Germline	Chr1:155904470	Pathogenic/Likely pathogenic	Noonan syndrome 8 Condition: not provided RIT1-related disorder Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA1151814	rs_483352822	10 SubmittersRCV000170493 RCV000355969 RCV003416059 RCV001813422 RCV004020021
NM_005633.4(SOS1):c.2105A>G (p.Tyr702Cys)	SNV Germline	Chr2:39013522	Conflicting classifications of pathogenicity	Condition: not provided Fibromatosis, gingival, 1 Noonan syndrome 4 RASopathy	Criteria Provided Conflicting Classifications	CA236034	rs_757094189	4 SubmittersRCV000171288 RCV002505234 RCV002515236
NM_005633.4(SOS1):c.3769A>G (p.Thr1257Ala)	SNV Germline	Chr2:38986057	Conflicting classifications of pathogenicity	Condition: not provided RASopathy Fibromatosis, gingival, 1 Noonan syndrome 4 Fibromatosis, gingival, 1 Noonan syndrome 4 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA242343	rs_553805862	10 SubmittersRCV000176407 RCV001344972 RCV002467645 RCV002467646 RCV002500487 RCV002362896
NM_144670.6(A2ML1):c.2405G>A (p.Arg802His)	SNV Germline	Chr12:8851954	Conflicting classifications of pathogenicity	Condition: not provided Noonan syndrome not specified A2ML1-related disorder	Criteria Provided Conflicting Classifications	CA354435	rs_201562272	7 SubmittersRCV000185643 RCV001251215 RCV001201332 RCV003937655
NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)	SNV Germline	Chr17:31327718	Conflicting classifications of pathogenicity	Neurofibromatosis, type 1 Condition: not provided not specified Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Intellectual disability Neurofibromatosis-Noonan syndrome Neurodevelopmental delay Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Juvenile myelomonocytic leukemia Hereditary cancer-predisposing syndrome Cardiovascular phenotype Juvenile myelomonocytic leukemia NF1-related disorder	Criteria Provided Conflicting Classifications	CA276040	rs_797045139	26 SubmittersRCV000190889 RCV000439869 RCV000999745 RCV001027793 RCV001257603 RCV001775095 RCV002273979 RCV002503749 RCV002319460 RCV003468878 RCV004553045
NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu)	SNV Germline	Chr17:31327719	Pathogenic/Likely pathogenic	Neurofibromatosis, type 1 Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Juvenile myelomonocytic leukemia Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA276045	rs_771529172	8 SubmittersRCV000190890 RCV000762992 RCV001589057 RCV002311032
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)	SNV Germline	Chr22:20990476	Conflicting classifications of pathogenicity	Noonan syndrome 10 Condition: not provided Schwannomatosis 2 Noonan syndrome 10 Fetal cystic hygroma Hereditary cancer-predisposing syndrome Cardiovascular phenotype Schwannomatosis 2 RASopathy	Criteria Provided Conflicting Classifications	CA358852	rs_869320686	20 SubmittersRCV000191027 RCV000413889 RCV000763072 RCV001526613 RCV002381647 RCV003988835 RCV004576927
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys)	SNV Germline	Chr22:20991686	Pathogenic	Noonan syndrome 10 Condition: not provided Schwannomatosis 2 Noonan syndrome 10 Hereditary cancer-predisposing syndrome Cardiovascular phenotype LZTR1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA204980	rs_797045165	9 SubmittersRCV000191028 RCV000658480 RCV000763073 RCV002444774 RCV004530087
NM_006767.4(LZTR1):c.740G>A (p.Ser247Asn)	SNV Germline	Chr22:20990474	Pathogenic	Noonan syndrome 10	No Assertion Criteria Provided	CA204982	rs_797045166	1 SubmittersRCV000191029
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser)	SNV Germline	Chr14:50161551	Pathogenic	Noonan syndrome 9 Condition: not provided Noonan syndrome Noonan syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA358853	rs_869320687	8 SubmittersRCV000191030 RCV000224178 RCV000845122 RCV003454490
NM_006939.4(SOS2):c.800T>A (p.Met267Lys)	SNV Germline	Chr14:50182521	Pathogenic	Noonan syndrome 9 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA204984	rs_797045167	7 SubmittersRCV000191031 RCV003320592
NM_001042492.3(NF1):c.731-6A>C	SNV Germline	Chr17:31182502	Conflicting classifications of pathogenicity	not specified Condition: not provided Neurofibromatosis, type 1 Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA336953	rs_369366499	10 SubmittersRCV000243785 RCV000679410 RCV001081743 RCV001125651 RCV001125652 RCV001125653 RCV002256109
NM_001042492.3(NF1):c.4766C>T (p.Thr1589Met)	SNV Germline	Chr17:31265270	Conflicting classifications of pathogenicity	Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Condition: not provided Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA335711	rs_185660700	8 SubmittersRCV000195487 RCV000213390 RCV000679395 RCV000764113 RCV003165467
NM_001042492.3(NF1):c.7396A>G (p.Ile2466Val)	SNV Germline	Chr17:31350257	Conflicting classifications of pathogenicity	Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Condition: not provided Juvenile myelomonocytic leukemia Neurofibromatosis, familial spinal Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Hereditary cancer-predisposing syndrome Cardiovascular phenotype not specified NF1-related disorder	Criteria Provided Conflicting Classifications	CA339497	rs_748027595	7 SubmittersRCV000200710 RCV000575889 RCV000681161 RCV000764116 RCV002317726 RCV003401080 RCV004553095
NM_007373.4(SHOC2):c.806A>G (p.Gln269Arg)	SNV Germline	Chr10:110985730	Conflicting classifications of pathogenicity	not specified Noonan syndrome-like disorder with loose anagen hair 1 Noonan syndrome RASopathy SHOC2-related disorder	Criteria Provided Conflicting Classifications	CA249249	rs_864309599	5 SubmittersRCV000203043 RCV002272173 RCV002273987 RCV002515502 RCV003407717
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_002880.4(RAF1):c.462C>G (p.Ile154Met)	SNV Germline	Chr3:12608885	Conflicting classifications of pathogenicity	RASopathy LEOPARD syndrome 2 Noonan syndrome 5 Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA349068	rs_367732360	4 SubmittersRCV000204876 RCV001144315 RCV001144316 RCV001566347 RCV002327066
NM_001042492.3(NF1):c.5225A>G (p.Asn1742Ser)	SNV Germline	Chr17:31326209	Conflicting classifications of pathogenicity	Neurofibromatosis, type 1 Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype Juvenile myelomonocytic leukemia Neurofibromatosis, familial spinal Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype	Criteria Provided Conflicting Classifications	CA350599	rs_745407845	6 SubmittersRCV000206576 RCV001545516 RCV002317731 RCV002494519 RCV003313057
NM_001042492.3(NF1):c.7055A>G (p.Asn2352Ser)	SNV Germline	Chr17:31340638	Conflicting classifications of pathogenicity	Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Hereditary cancer-predisposing syndrome Cardiovascular phenotype Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Neurofibromatosis, type 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA350500	rs_763082717	6 SubmittersRCV000206473 RCV000571459 RCV002317733 RCV002503803 RCV003237766
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys)	SNV Germline	Chr17:31350215	Conflicting classifications of pathogenicity	Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Juvenile myelomonocytic leukemia Neurofibromatosis, familial spinal Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA348018	rs_377662483	7 SubmittersRCV000203720 RCV000571589 RCV000764115 RCV000681043 RCV002317738
NM_001042492.3(NF1):c.7870-8C>A	SNV Germline	Chr17:31357261	Conflicting classifications of pathogenicity	Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Condition: not provided NF1-related disorder	Criteria Provided Conflicting Classifications	CA350845	rs_372441422	4 SubmittersRCV000206850 RCV000368645 RCV000335775 RCV000397735 RCV001558774 RCV004547485
NM_004333.6(BRAF):c.1574T>C (p.Leu525Pro)	SNV Germline	Chr7:140777032	Pathogenic/Likely pathogenic	Condition: not provided Noonan syndrome 7	Criteria Provided Multiple Submitters No Conflicts	CA354839	rs_869025340	4 SubmittersRCV000207510 RCV001781616
NM_002524.5(NRAS):c.71T>A (p.Ile24Asn)	SNV Germline	Chr1:114716090	Pathogenic	Noonan syndrome 1 Condition: not provided	Criteria Provided Single Submitter	CA356968	rs_869025573	2 SubmittersRCV000208553 RCV000522652
NM_002834.5(PTPN11):c.1174G>A (p.Ala392Thr)	SNV Germline	Chr12:112482155	Conflicting classifications of pathogenicity	Noonan syndrome 1 RASopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA357176	rs_774356443	3 SubmittersRCV000209886 RCV001853345 RCV002261008
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln)	SNV Germline	Chr1:155910695	Conflicting classifications of pathogenicity	Noonan syndrome 8 not specified Pedal edema Downslanted palpebral fissures Short stature Hypertelorism Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA353413	rs_869312687	6 SubmittersRCV000209835 RCV000521893 RCV000626786 RCV000680368 RCV003372654
NM_002834.5(PTPN11):c.205G>A (p.Glu69Lys)	SNV Germline	Chr12:112450385	Conflicting classifications of pathogenicity	Condition: not provided Noonan syndrome 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA354979	rs_397507511	3 SubmittersRCV000210038 RCV001250211 RCV002415881
NM_006912.6(RIT1):c.229G>C (p.Ala77Pro)	SNV Germline	Chr1:155904739	Pathogenic/Likely pathogenic	Noonan syndrome Noonan syndrome 8 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10576360	rs_869025191	5 SubmittersRCV000218943 RCV000467706 RCV002517525
NM_005633.4(SOS1):c.587C>T (p.Ser196Leu)	SNV Germline	Chr2:39054747	Conflicting classifications of pathogenicity	not specified Fibromatosis, gingival, 1 Noonan syndrome 4 RASopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1624759	rs_199898869	4 SubmittersRCV000213944 RCV000268538 RCV000358698 RCV001405911 RCV003298282
NM_002880.4(RAF1):c.775T>C (p.Ser259Pro)	SNV Germline	Chr3:12604195	Pathogenic/Likely pathogenic	Noonan syndrome RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA10576602	rs_3730271	4 SubmittersRCV000215259 RCV000781806
NM_002834.5(PTPN11):c.181G>T (p.Asp61Tyr)	SNV Germline/somatic	Chr12:112450361	Conflicting classifications of pathogenicity	Juvenile myelomonocytic leukemia Condition: not provided Noonan syndrome 1	Criteria Provided Conflicting Classifications	CA10576907	rs_397507510	4 SubmittersRCV000215649 RCV001090939 RCV003992237
NM_004985.5(KRAS):c.264A>G (p.Lys88=)	SNV Germline	Chr12:25227260	Conflicting classifications of pathogenicity	not specified Noonan syndrome Condition: not provided RASopathy KRAS-related disorder	Criteria Provided Conflicting Classifications	CA6486904	rs_370920665	7 SubmittersRCV000213935 RCV000369643 RCV000586846 RCV001512187 RCV004547516
NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile)	SNV Germline	Chr15:38349426	Conflicting classifications of pathogenicity	not specified Legius syndrome Condition: not provided Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA501231	rs_147474792	8 SubmittersRCV000214558 RCV000229299 RCV001705204 RCV001813431 RCV004020634
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp)	SNV Germline	Chr15:66436818	Pathogenic	RASopathy Noonan syndrome 1 Cardiofaciocutaneous syndrome 3 Noonan syndrome Cardiofaciocutaneous syndrome 3	Reviewed By Expert Panel	CA10576999	rs_876657651	5 SubmittersRCV000220187 RCV000763361 RCV000844674 RCV001312196
NM_001042492.3(NF1):c.4724+11A>G	SNV Germline	Chr17:31261868	Conflicting classifications of pathogenicity	not specified Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA8486455	rs_368649260	5 SubmittersRCV000218790 RCV000398510 RCV000310146 RCV000364871 RCV000368229 RCV000679393 RCV002255320
NM_001042492.3(NF1):c.7439A>G (p.His2480Arg)	SNV Germline	Chr17:31350300	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Neurofibromatosis, type 1 Condition: not provided Neurofibromatosis, familial spinal Juvenile myelomonocytic leukemia Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA8487571	rs_371151718	6 SubmittersRCV000216591 RCV000217787 RCV000693913 RCV001778803 RCV002500714 RCV004558466
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter)	SNV Germline	Chr17:31206297	Pathogenic	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Condition: not provided Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Juvenile myelomonocytic leukemia Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Abnormality of the skin Neurofibrmatosis type 1 Juvenile myelomonocytic leukemia	Criteria Provided Multiple Submitters No Conflicts	CA8485754	rs_778405030	18 SubmittersRCV000213237 RCV000225855 RCV000519956 RCV000762984 RCV001814122 RCV003315237 RCV003469010
NM_001042492.3(NF1):c.2023G>A (p.Gly675Arg)	SNV Germline	Chr17:31226456	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome Condition: not provided Neurofibromatosis, familial spinal	Criteria Provided Conflicting Classifications	CA10580240	rs_779546178	5 SubmittersRCV000213385 RCV000559747 RCV001125813 RCV001125815 RCV002415908 RCV000681229 RCV001125814
NM_001042492.3(NF1):c.2158C>T (p.Arg720Trp)	SNV Germline	Chr17:31226591	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Juvenile myelomonocytic leukemia Neurofibromatosis, type 1	Criteria Provided Conflicting Classifications	CA8485918	rs_759679443	5 SubmittersRCV000220091 RCV000465439 RCV001775692 RCV002415909 RCV002500735
NM_001042492.3(NF1):c.3303G>A (p.Gln1101=)	SNV Germline	Chr17:31232178	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Neurofibromatosis, familial spinal Café-au-lait macules with pulmonary stenosis Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA10580279	rs_876659944	6 SubmittersRCV000215735 RCV000632608 RCV001125914 RCV001125916 RCV001125915 RCV001589153 RCV001844092
NM_001042492.3(NF1):c.4055G>C (p.Ser1352Thr)	SNV Germline	Chr17:31249064	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Condition: not provided Neurofibromatosis, familial spinal Neurofibromatosis, type 1 Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Juvenile myelomonocytic leukemia Hereditary cancer-predisposing syndrome Cardiovascular phenotype NF1-related disorder	Criteria Provided Conflicting Classifications	CA10580306	rs_876660908	7 SubmittersRCV000220527 RCV000531590 RCV001589161 RCV002494600 RCV003463603 RCV004558579 RCV004547563
NM_001042492.3(NF1):c.4409G>A (p.Ser1470Asn)	SNV Germline	Chr17:31259108	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Hereditary breast ovarian cancer syndrome Neurofibromatosis, type 1 not specified Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10580315	rs_876660093	8 SubmittersRCV000222235 RCV000764112 RCV001030575 RCV000632497 RCV001731450 RCV002478807 RCV004558547
NM_001042492.3(NF1):c.4412A>G (p.Asn1471Ser)	SNV Germline	Chr17:31259111	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Condition: not provided Neurofibromatosis, familial spinal Juvenile myelomonocytic leukemia Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Juvenile myelomonocytic leukemia Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10580316	rs_876658250	6 SubmittersRCV000218457 RCV000706280 RCV001762468 RCV002503866 RCV003468987 RCV004558472
NM_001042492.3(NF1):c.4462A>G (p.Thr1488Ala)	SNV Germline	Chr17:31260400	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis	Criteria Provided Conflicting Classifications	CA10580318	rs_876660162	5 SubmittersRCV000218722 RCV000476720 RCV000681188 RCV004558552 RCV002478809
NM_001042492.3(NF1):c.4943C>T (p.Thr1648Ile)	SNV Germline	Chr17:31325927	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype not specified Neurofibromatosis-Noonan syndrome NF1-related disorder	Criteria Provided Conflicting Classifications	CA8487120	rs_376655102	7 SubmittersRCV000221420 RCV000546921 RCV000681085 RCV002327095 RCV003114391 RCV003387812 RCV004547559
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp)	SNV Germline	Chr17:31326144	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Café-au-lait macules with pulmonary stenosis not specified Neurofibromatosis, type 1 Hereditary breast ovarian cancer syndrome Neurofibromatosis-Noonan syndrome Neurofibromatosis, familial spinal Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA8487141	rs_773378630	7 SubmittersRCV000219317 RCV000680828 RCV001126131 RCV000780547 RCV000460990 RCV001030578 RCV001126130 RCV001126132 RCV002338690
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter)	SNV Germline	Chr17:31335016	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Juvenile myelomonocytic leukemia Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA10580365	rs_876660696	7 SubmittersRCV000215669 RCV000660089 RCV000763391 RCV001797071
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)	SNV Germline	Chr17:31352348	Pathogenic	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 not specified Condition: not provided Abnormality of the skin Juvenile myelomonocytic leukemia NF1-related disorder Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Juvenile myelomonocytic leukemia Neurofibromatosis, type 1 Neurofibromatosis, familial spinal	Criteria Provided Multiple Submitters No Conflicts	CA10580413	rs_866445127	24 SubmittersRCV000218957 RCV000457951 RCV000505900 RCV000579098 RCV001836756 RCV003469003 RCV003595895 RCV002494586
NM_001042492.3(NF1):c.8238T>G (p.Ile2746Met)	SNV Germline	Chr17:31360564	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Juvenile myelomonocytic leukemia Neurofibromatosis, type 1 Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA8487780	rs_779789452	5 SubmittersRCV000215281 RCV000230134 RCV002494592 RCV003165564
NM_007373.4(SHOC2):c.610A>G (p.Ile204Val)	SNV Germline	Chr10:110964968	Conflicting classifications of pathogenicity	RASopathy Noonan syndrome-like disorder with loose anagen hair 1 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA5689600	rs_200015085	5 SubmittersRCV000229898 RCV000314432 RCV000479328 RCV001174950
NM_005188.4(CBL):c.2036+9G>T	SNV Germline	Chr11:119287955	Conflicting classifications of pathogenicity	Condition: not provided not specified RASopathy Noonan syndrome and Noonan-related syndrome	Criteria Provided Conflicting Classifications	CA6318655	rs_142704935	6 SubmittersRCV000513712 RCV000615610 RCV001079807 RCV001813433
NM_152594.3(SPRED1):c.1005C>T (p.Cys335=)	SNV Germline	Chr15:38351334	Conflicting classifications of pathogenicity	Legius syndrome Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA7470218	rs_768937237	4 SubmittersRCV001505311 RCV001813434 RCV003165655 RCV003401189
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser)	SNV Germline	Chr17:31156091	Conflicting classifications of pathogenicity	Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal Neurofibromatosis, type 1 Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype Hereditary cancer NF1-related disorder	Criteria Provided Conflicting Classifications	CA8485485	rs_779727341	11 SubmittersRCV000234251 RCV000564586 RCV000765342 RCV000996514 RCV002311333 RCV003491998 RCV004547596
NM_001042492.3(NF1):c.1866T>C (p.Cys622=)	SNV Germline	Chr17:31225115	Conflicting classifications of pathogenicity	Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Neurofibromatosis-Noonan syndrome Neurofibromatosis, familial spinal Café-au-lait macules with pulmonary stenosis Condition: not provided	Criteria Provided Conflicting Classifications	CA8485875	rs_753245823	4 SubmittersRCV000231851 RCV000561704 RCV001122062 RCV001122063 RCV001122064 RCV001711623
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)	SNV Germline	Chr2:28776944	Pathogenic	Condition: not provided Noonan syndrome-like disorder with loose anagen hair 2 Inborn genetic diseases Noonan syndrome Dandy-Walker syndrome Neurodevelopmental delay	Criteria Provided Multiple Submitters No Conflicts	CA10586682	rs_886037952	24 SubmittersRCV000257986 RCV000490622 RCV001265940 RCV001251211 RCV001257999 RCV002274002
NM_002709.3(PPP1CB):c.548A>C (p.Glu183Ala)	SNV Germline	Chr2:28783934	Pathogenic	Noonan syndrome-like disorder with loose anagen hair 2 Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA10586683	rs_886037954	4 SubmittersRCV000490621 RCV001731461 RCV004020993
NM_002709.3(PPP1CB):c.548A>T (p.Glu183Val)	SNV Germline	Chr2:28783934	Pathogenic	Condition: not provided Noonan syndrome-like disorder with loose anagen hair 2	Criteria Provided Single Submitter	CA10586684	rs_886037954	2 SubmittersRCV000257978 RCV000490623
NM_002709.3(PPP1CB):c.820G>A (p.Glu274Lys)	SNV Germline	Chr2:28793938	Conflicting classifications of pathogenicity	Noonan syndrome-like disorder with loose anagen hair 2 Condition: not provided PPP1CB-related disorder	Criteria Provided Conflicting Classifications	CA10586686	rs_886037955	3 SubmittersRCV000490625 RCV003985764 RCV003909879
NM_002880.4(RAF1):c.853A>G (p.Ser285Gly)	SNV Germline	Chr3:12600397	Conflicting classifications of pathogenicity	Cardiovascular phenotype RASopathy Noonan syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2259660	rs_150054973	4 SubmittersRCV000250580 RCV000477169 RCV001261034 RCV001568261
NM_006912.6(RIT1):c.270G>T (p.Met90Ile)	SNV Germline	Chr1:155904470	Pathogenic	Condition: not provided Noonan syndrome 8 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA10588268	rs_483352822	7 SubmittersRCV000255338 RCV000722172 RCV001267162
NM_002880.4(RAF1):c.505G>C (p.Gly169Arg)	SNV Germline	Chr3:12608842	Pathogenic/Likely pathogenic	Condition: not provided LEOPARD syndrome 2 Noonan syndrome 5 Noonan syndrome RASopathy LEOPARD syndrome 2 Noonan syndrome 5 Dilated cardiomyopathy 1NN	Criteria Provided Multiple Submitters No Conflicts	CA10588350	rs_886039607	4 SubmittersRCV000255759 RCV000576681 RCV001261029 RCV001859486 RCV003224248
NM_002834.5(PTPN11):c.1520C>A (p.Thr507Lys)	SNV Germline	Chr12:112489096	Pathogenic/Likely pathogenic	Condition: not provided Non-immune hydrops fetalis Noonan syndrome 1 Noonan syndrome and Noonan-related syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10588540	rs_886039463	4 SubmittersRCV000255951 RCV001376031 RCV001330779 RCV001813438
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_006912.6(RIT1):c.634C>T (p.Arg212Trp)	SNV Germline	Chr1:155900414	Conflicting classifications of pathogenicity	Condition: not provided Noonan syndrome 8 not specified Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1151760	rs_563231684	6 SubmittersRCV000373670 RCV001342293 RCV001174993 RCV001813440 RCV002365291
NM_006912.6(RIT1):c.365G>T (p.Arg122Leu)	SNV Germline	Chr1:155904375	Conflicting classifications of pathogenicity	Condition: not provided Noonan syndrome 8 Noonan syndrome 8 Megalencephaly-capillary malformation-polymicrogyria syndrome Noonan syndrome and Noonan-related syndrome	Criteria Provided Conflicting Classifications	CA10602738	rs_777520196	4 SubmittersRCV000357501 RCV001037285 RCV002051722 RCV001813444
NM_006912.6(RIT1):c.259G>C (p.Asp87His)	SNV Germline	Chr1:155904481	Conflicting classifications of pathogenicity	Condition: not provided Noonan syndrome and Noonan-related syndrome Noonan syndrome 8	Criteria Provided Conflicting Classifications	CA10602741	rs_886041414	3 SubmittersRCV000278934 RCV001813441 RCV001855060
NM_005633.4(SOS1):c.1626A>G (p.Ile542Met)	SNV Germline	Chr2:39022802	Conflicting classifications of pathogenicity	Condition: not provided RASopathy Noonan syndrome 4 Fibromatosis, gingival, 1	Criteria Provided Conflicting Classifications	CA1624573	rs_746798986	3 SubmittersRCV000373537 RCV001859538 RCV002467708 RCV002467707
NM_005633.4(SOS1):c.1574T>C (p.Ile525Thr)	SNV Germline	Chr2:39022854	Conflicting classifications of pathogenicity	Condition: not provided Noonan syndrome 4 RASopathy Fibromatosis, gingival, 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1624579	rs_146722878	5 SubmittersRCV000350752 RCV000578082 RCV001051525 RCV002467700 RCV003165717
NM_005633.4(SOS1):c.3148A>G (p.Met1050Val)	SNV Germline	Chr2:38995321	Conflicting classifications of pathogenicity	Condition: not provided Fibromatosis, gingival, 1 Noonan syndrome 4 RASopathy	Criteria Provided Conflicting Classifications	CA10602858	rs_886041814	3 SubmittersRCV000397079 RCV002487177 RCV002519060
NM_005633.4(SOS1):c.2227G>C (p.Ala743Pro)	SNV Germline	Chr2:39012289	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Noonan syndrome 4 Fibromatosis, gingival, 1 RASopathy	Criteria Provided Conflicting Classifications	CA1624439	rs_759584440	4 SubmittersRCV000328656 RCV002429208 RCV002467702 RCV002467701 RCV002519046
NM_006939.4(SOS2):c.2978A>T (p.Asn993Ile)	SNV Germline	Chr14:50134220	Conflicting classifications of pathogenicity	Condition: not provided Noonan syndrome 9 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA7176895	rs_776000121	3 SubmittersRCV000261274 RCV001855076 RCV002436096
NM_005188.4(CBL):c.1942A>C (p.Ser648Arg)	SNV Germline	Chr11:119287852	Conflicting classifications of pathogenicity	Condition: not provided RASopathy not specified Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA6318645	rs_143264567	6 SubmittersRCV000361702 RCV001089369 RCV001192739 RCV001813442 RCV004021064
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter)	SNV Germline	Chr17:31229061	Pathogenic	Neurofibromatosis, type 1 Condition: not provided 6 conditions Juvenile myelomonocytic leukemia Neurofibromatosis, familial spinal Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome Juvenile myelomonocytic leukemia	Criteria Provided Multiple Submitters No Conflicts	CA10603442	rs_886041347	18 SubmittersRCV000497042 RCV000376782 RCV000626642 RCV000762986 RCV002311233 RCV003469215
NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu)	SNV Germline	Chr15:66436777	Pathogenic	Condition: not provided Cardiofaciocutaneous syndrome 3 Noonan syndrome 1 Cardiofaciocutaneous syndrome 3 RASopathy	Reviewed By Expert Panel	CA10603467	rs_727504819	4 SubmittersRCV000388257 RCV000763976 RCV001027695 RCV001250384
NM_005633.4(SOS1):c.3387C>T (p.Gly1129=)	SNV Germline	Chr2:38989274	Conflicting classifications of pathogenicity	Condition: not provided Noonan syndrome Cardiovascular phenotype RASopathy	Criteria Provided Conflicting Classifications	CA1624200	rs_772823827	4 SubmittersRCV000307912 RCV001775112 RCV002450823 RCV001079080
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)	SNV Germline	Chr22:20992304	Pathogenic/Likely pathogenic	Condition: not provided Short stature Schwannomatosis 2 Noonan syndrome 10 Schwannomatosis Noonan syndrome 2 Schwannomatosis 2 Noonan syndrome and Noonan-related syndrome Noonan syndrome 10 See cases Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10118715	rs_189150283	14 SubmittersRCV000329167 RCV000736158 RCV000763074 RCV001193024 RCV001706423 RCV001799649 RCV001813447 RCV003387519 RCV002252087 RCV002429235
NM_005633.4(SOS1):c.1820T>C (p.Ile607Thr)	SNV Germline	Chr2:39022608	Conflicting classifications of pathogenicity	Condition: not provided RASopathy Primary dilated cardiomyopathy Fibromatosis, gingival, 1 Noonan syndrome 4	Criteria Provided Conflicting Classifications	CA1624546	rs_758699499	5 SubmittersRCV000589437 RCV001240108 RCV001543366 RCV002467721 RCV002467722
NM_002524.5(NRAS):c.*2805T>C	SNV Germline	Chr1:114705289	Conflicting classifications of pathogenicity	Noonan syndrome 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA10607584	rs_776606789	2 SubmittersRCV000304039 RCV003409429
NM_002524.5(NRAS):c.*2513T>A	SNV Germline	Chr1:114705581	Conflicting classifications of pathogenicity	Noonan syndrome 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA10607593	rs_150969241	2 SubmittersRCV000316496 RCV003409430
NM_002524.5(NRAS):c.*111A>G	SNV Germline	Chr1:114707983	Conflicting classifications of pathogenicity	Noonan syndrome 6 Condition: not provided	Criteria Provided Conflicting Classifications	CA10607700	rs_188272768	2 SubmittersRCV000317051 RCV003409431
NM_005633.4(SOS1):c.*1309A>G	SNV Germline	Chr2:38984515	Conflicting classifications of pathogenicity	Noonan syndrome 4 Fibromatosis, gingival, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10613329	rs_145273962	2 SubmittersRCV000295055 RCV000352163 RCV002263611
NM_005633.4(SOS1):c.*1303C>A	SNV Germline	Chr2:38984521	Conflicting classifications of pathogenicity	Fibromatosis, gingival, 1 Noonan syndrome 4 Fibromatosis, gingival, 1 Noonan syndrome 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA10613332	rs_115153488	3 SubmittersRCV000312429 RCV000394415 RCV002504135 RCV003422317
NM_005633.4(SOS1):c.3709C>G (p.Pro1237Ala)	SNV Germline	Chr2:38986117	Conflicting classifications of pathogenicity	Fibromatosis, gingival, 1 Noonan syndrome 4 RASopathy Fibromatosis, gingival, 1 Noonan syndrome 4 not specified Noonan syndrome Condition: not provided Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1624123	rs_371408734	9 SubmittersRCV000345549 RCV000379826 RCV000525329 RCV000764404 RCV001175064 RCV001261115 RCV001590981 RCV001813466 RCV002348087
NM_005633.4(SOS1):c.865-4T>C	SNV Germline	Chr2:39035504	Conflicting classifications of pathogenicity	Noonan syndrome 4 Fibromatosis, gingival, 1 RASopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1624693	rs_750788947	3 SubmittersRCV000308567 RCV000398670 RCV001448293 RCV002374579
NM_005633.4(SOS1):c.*758A>T	SNV Germline	Chr2:38985066	Conflicting classifications of pathogenicity	Noonan syndrome 4 Fibromatosis, gingival, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10613814	rs_182650589	2 SubmittersRCV000293094 RCV000389666 RCV002292533
NM_005633.4(SOS1):c.2121T>C (p.Asp707=)	SNV Germline	Chr2:39013506	Conflicting classifications of pathogenicity	Fibromatosis, gingival, 1 Noonan syndrome 4 RASopathy	Criteria Provided Conflicting Classifications	CA1624462	rs_571408451	2 SubmittersRCV000325236 RCV000382206 RCV003654253
NM_005633.4(SOS1):c.*4023T>C	SNV Germline	Chr2:38981801	Conflicting classifications of pathogenicity	Noonan syndrome 4 Fibromatosis, gingival, 1 Condition: not provided Fibromatosis, gingival, 1 Noonan syndrome 4	Criteria Provided Conflicting Classifications	CA10615198	rs_1043800	3 SubmittersRCV000282540 RCV000337391 RCV002292532 RCV002487491
NM_005633.4(SOS1):c.*3451A>T	SNV Germline	Chr2:38982373	Conflicting classifications of pathogenicity	Noonan syndrome 4 Fibromatosis, gingival, 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10615204	rs_78411167	2 SubmittersRCV000316123 RCV000389301 RCV003221934
NM_005633.4(SOS1):c.*534C>T	SNV Germline	Chr2:38985290	Conflicting classifications of pathogenicity	Fibromatosis, gingival, 1 Noonan syndrome 4 Fibromatosis, gingival, 1 Noonan syndrome 4 Condition: not provided	Criteria Provided Conflicting Classifications	CA10615222	rs_773935049	3 SubmittersRCV000343552 RCV000401021 RCV002487492 RCV003409534
NM_005633.4(SOS1):c.3347-3C>T	SNV Germline	Chr2:38989317	Conflicting classifications of pathogenicity	Noonan syndrome 4 Fibromatosis, gingival, 1 Condition: not provided RASopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1624206	rs_779326746	4 SubmittersRCV000334367 RCV000395664 RCV001683343 RCV002057695 RCV002323542
NM_002880.4(RAF1):c.*190G>A	SNV Germline	Chr3:12584324	Conflicting classifications of pathogenicity	Noonan syndrome 5 LEOPARD syndrome 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA10617117	rs_528863135	2 SubmittersRCV000328835 RCV000364960 RCV003430874
NM_002880.4(RAF1):c.21T>C (p.Ala7=)	SNV Germline	Chr3:12618701	Conflicting classifications of pathogenicity	Noonan syndrome 5 LEOPARD syndrome 2 Condition: not provided RASopathy not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10617130	rs_886057915	5 SubmittersRCV000308393 RCV000359991 RCV000419856 RCV002057831 RCV002469135 RCV003298399
NM_004333.6(BRAF):c.981-14C>A	SNV Germline	Chr7:140794481	Conflicting classifications of pathogenicity	Noonan syndrome 7 LEOPARD syndrome 3 Condition: not provided RASopathy	Criteria Provided Conflicting Classifications	CA4516837	rs_200002171	3 SubmittersRCV000262789 RCV000357486 RCV000438700 RCV002058654
NM_007373.4(SHOC2):c.*404A>G	SNV Germline	Chr10:111012222	Conflicting classifications of pathogenicity	Noonan syndrome-like disorder with loose anagen hair 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10631028	rs_539394184	2 SubmittersRCV000289452 RCV003422221
NM_033360.4(KRAS):c.*3766A>G	SNV Germline	Chr12:25206150	Conflicting classifications of pathogenicity	Noonan syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10632461	rs_529959450	2 SubmittersRCV000323830 RCV003311746
NM_033360.4(KRAS):c.*525T>C	SNV Germline	Chr12:25209391	Conflicting classifications of pathogenicity	Noonan syndrome Noonan syndrome and Noonan-related syndrome	Criteria Provided Conflicting Classifications	CA10632489	rs_140080026	2 SubmittersRCV000357342 RCV001813462
NM_007373.4(SHOC2):c.774A>G (p.Gly258=)	SNV Germline	Chr10:110985698	Conflicting classifications of pathogenicity	Noonan syndrome-like disorder with loose anagen hair 1 RASopathy	Criteria Provided Conflicting Classifications	CA5689635	rs_753237615	2 SubmittersRCV000318357 RCV003654250
NM_007373.4(SHOC2):c.*656C>G	SNV Germline	Chr10:111012474	Conflicting classifications of pathogenicity	Noonan syndrome-like disorder with loose anagen hair 1 Condition: not provided	Criteria Provided Conflicting Classifications	CA10634974	rs_557334390	2 SubmittersRCV000392113 RCV003422222
NM_002834.5(PTPN11):c.*325G>A	SNV Germline	Chr12:112506117	Conflicting classifications of pathogenicity	LEOPARD syndrome 1 Noonan syndrome 1 Metachondromatosis Condition: not provided	Criteria Provided Conflicting Classifications	CA10636514	rs_192080780	2 SubmittersRCV000264960 RCV000322269 RCV000379260 RCV003311745
NM_033360.4(KRAS):c.*4619T>C	SNV Germline	Chr12:25205297	Conflicting classifications of pathogenicity	Noonan syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10637049	rs_768891600	2 SubmittersRCV000285443 RCV003391091
NM_033360.4(KRAS):c.*4549G>C	SNV Germline	Chr12:25205367	Conflicting classifications of pathogenicity	Noonan syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10637054	rs_545014897	2 SubmittersRCV000303274 RCV003391092
NM_001042492.3(NF1):c.1649T>C (p.Leu550Pro)	SNV Germline	Chr17:31221857	Conflicting classifications of pathogenicity	Café-au-lait macules with pulmonary stenosis Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 Neurofibromatosis, familial spinal	Criteria Provided Conflicting Classifications	CA10639323	rs_886052798	2 SubmittersRCV000263054 RCV000277617 RCV000318328 RCV000354441
NM_001042492.3(NF1):c.4530A>G (p.Leu1510=)	SNV Germline	Chr17:31260468	Conflicting classifications of pathogenicity	Neurofibromatosis, familial spinal Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10639326	rs_876660089	3 SubmittersRCV000281260 RCV000313579 RCV000336185 RCV000398129 RCV004558617
NM_001042492.3(NF1):c.*1899A>G	SNV Germline	Chr17:31376054	Conflicting classifications of pathogenicity	Neurofibromatosis, familial spinal Café-au-lait macules with pulmonary stenosis Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10639346	rs_547663480	2 SubmittersRCV000267334 RCV000317828 RCV000362061 RCV000372073 RCV003422283
NM_033360.4(KRAS):c.*1826C>G	SNV Germline	Chr12:25208090	Conflicting classifications of pathogenicity	Noonan syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10640721	rs_539213224	2 SubmittersRCV000391802 RCV003391095
NM_033360.4(KRAS):c.*671C>T	SNV Germline	Chr12:25209245	Conflicting classifications of pathogenicity	Noonan syndrome Noonan syndrome and Noonan-related syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA6486810	rs_566222739	3 SubmittersRCV000290817 RCV001813460 RCV003391096
NM_033360.4(KRAS):c.*16T>C	SNV Germline	Chr12:25209900	Conflicting classifications of pathogenicity	Noonan syndrome RASopathy	Criteria Provided Conflicting Classifications	CA6486829	rs_779184057	2 SubmittersRCV000334701 RCV002056286
NM_033360.4(KRAS):c.*4036A>G	SNV Germline	Chr12:25205880	Conflicting classifications of pathogenicity	Noonan syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10641641	rs_886049179	2 SubmittersRCV000283545 RCV003391093
NM_033360.4(KRAS):c.*3672C>G	SNV Germline	Chr12:25206244	Conflicting classifications of pathogenicity	Noonan syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10641646	rs_188922523	2 SubmittersRCV000284910 RCV003391094
NM_152594.3(SPRED1):c.963G>A (p.Lys321=)	SNV Germline	Chr15:38351292	Conflicting classifications of pathogenicity	Legius syndrome Condition: not provided not specified Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA7470212	rs_369711772	6 SubmittersRCV000334493 RCV000681293 RCV001193310 RCV001813464 RCV002379194

NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)

SNV
Germline/somatic

Chr17:31258500

Pathogenic

Neurofibromatosis, type 1
Condition: not provided
Optic nerve glioma
Neurofibroma
Cafe au lait spots, multiple
Axillary freckling
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, type 1
Juvenile myelomonocytic leukemia
Neurofibromatosis, familial spinal
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Pheochromocytoma
Juvenile myelomonocytic leukemia

Criteria Provided
Multiple Submitters
No Conflicts

CA251440

rs_137854550

16 SubmittersRCV000000364 RCV000489593 RCV000626644 RCV000762990 RCV002310992 RCV002305424 RCV003460397

NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter)

SNV
Germline

Chr17:31334927

Pathogenic

Neurofibromatosis, type 1
Hereditary cancer-predisposing syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, type 1
Juvenile myelomonocytic leukemia
Neurofibromatosis, familial spinal
Condition: not provided
Neurofibromatosis, type 1
Tibial pseudarthrosis
Juvenile myelomonocytic leukemia
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Neurofibromatosis-Noonan syndrome
NF1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA325489

rs_137854552

18 SubmittersRCV000000371 RCV000492774 RCV000762995 RCV000418287 RCV001009602 RCV003460398 RCV004558221 RCV004562178 RCV004547450

NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter)

SNV
Germline/somatic

Chr17:31249093

Pathogenic

Neurofibromatosis, type 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis-Noonan syndrome
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal

Criteria Provided
Multiple Submitters
No Conflicts

CA325494

rs_137854560

17 SubmittersRCV000000372 RCV000483061 RCV000492495 RCV002504730

NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys)

SNV
Germline

Chr17:31214524

Pathogenic

Neurofibromatosis, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Neurofibromatosis, type 1
Tibial pseudarthrosis
Rhabdomyosarcoma
Abnormality of the skin
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis-Noonan syndrome
Juvenile myelomonocytic leukemia
Juvenile myelomonocytic leukemia

Criteria Provided
Multiple Submitters
No Conflicts

CA325499

rs_137854557

28 SubmittersRCV000000382 RCV000492667 RCV000757556 RCV001009573 RCV001257527 RCV001813925 RCV002504731 RCV003460400

NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro)

SNV
Germline

Chr17:31201044

Pathogenic/Likely pathogenic

Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Condition: not provided
Neurofibromatosis, familial spinal
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA212552

rs_137854563

5 SubmittersRCV000000398 RCV000000399 RCV002476903 RCV002496218

NM_152594.3(SPRED1):c.349C>T (p.Arg117Ter)

SNV
Germline

Chr15:38322382

Pathogenic

Legius syndrome
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
Neurodevelopmental delay
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA251949

rs_121434312

6 SubmittersRCV000001882 RCV001813180 RCV002336072 RCV002273919 RCV002225255

NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)

SNV
Germline

Chr10:110964362

Pathogenic

Noonan syndrome-like disorder with loose anagen hair 1
RASopathy
Noonan syndrome
Condition: not provided
Noonan syndrome-like disorder with loose anagen hair
Inborn genetic diseases
Polycystic kidney disease 4
Noonan syndrome and Noonan-related syndrome
Pectus excavatum
Noonan syndrome-like disorder with loose anagen hair 1

Reviewed By Expert Panel

CA118524

rs_267607048

40 SubmittersRCV000007223 RCV000149834 RCV000208379 RCV000213000 RCV000853278 RCV000624656 RCV002221469 RCV001813181 RCV003330311

NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His)

SNV
Germline

Chr19:4110559

Likely pathogenic

Cardio-facio-cutaneous syndrome
Condition: not provided
Cardiofaciocutaneous syndrome 4
RASopathy
Noonan syndrome and Noonan-related syndrome
MAP2K2-related disorder
Noonan syndrome 1

Reviewed By Expert Panel

CA119417

rs_121434499

10 SubmittersRCV000008763 RCV000158022 RCV000043675 RCV000521479 RCV001813182 RCV003390660 RCV003450621

NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu)

SNV
Germline/somatic

Chr11:14294844

Pathogenic

Noonan syndrome 12
Neoplasm of ovary
Noonan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA120437

rs_113954997

4 SubmittersRCV000010054 RCV001072115 RCV000852398

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.178G>C (p.Gly60Arg)

SNV
Germline

Chr12:25227346

Pathogenic

RASopathy
Condition: not provided
Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
Noonan syndrome
Inborn genetic diseases
Noonan syndrome 3
Cardiofaciocutaneous syndrome 2

Reviewed By Expert Panel

CA273416

rs_104894359

9 SubmittersRCV000157935 RCV000254661 RCV000521390 RCV000844635 RCV001267316 RCV003313917 RCV000013416

NM_004985.5(KRAS):c.458A>T (p.Asp153Val)

SNV
Germline

Chr12:25209904

Pathogenic

Cardiofaciocutaneous syndrome 2
Noonan syndrome 3
RASopathy
Condition: not provided
Noonan syndrome
not specified
11 conditions
Cardio-facio-cutaneous syndrome
Noonan syndrome
Noonan syndrome 1
Cardiovascular phenotype

Reviewed By Expert Panel

CA256478

rs_104894360

16 SubmittersRCV000013417 RCV000013418 RCV000157940 RCV000212501 RCV000523200 RCV000507330 RCV000763307 RCV000844634 RCV003450634 RCV004018621

NM_004985.5(KRAS):c.173C>T (p.Thr58Ile)

SNV
Germline

Chr12:25227351

Pathogenic

Noonan syndrome 3
Condition: not provided
Noonan syndrome
RASopathy

Reviewed By Expert Panel

CA256480

rs_104894364

7 SubmittersRCV000013419 RCV000157933 RCV000211785 RCV000704828

NM_004985.5(KRAS):c.40G>A (p.Val14Ile)

SNV
Germline/somatic

Chr12:25245345

Pathogenic

Noonan syndrome 3
Endometrial carcinoma
RASopathy
Condition: not provided
Noonan syndrome
Cardio-facio-cutaneous syndrome
Noonan syndrome
Noonan syndrome and Noonan-related syndrome
Inborn genetic diseases

Reviewed By Expert Panel

CA156358

rs_104894365

19 SubmittersRCV000013420 RCV000119792 RCV000157945 RCV000212499 RCV000521254 RCV000844637 RCV001813184 RCV001266727

NM_004985.5(KRAS):c.101C>G (p.Pro34Arg)

SNV
Germline

Chr12:25245284

Pathogenic/Likely pathogenic

Cardiofaciocutaneous syndrome 2
Cardio-facio-cutaneous syndrome
Noonan syndrome
Condition: not provided
Acute myeloid leukemia
Noonan syndrome 3
Cardiofaciocutaneous syndrome 2
Autoimmune lymphoproliferative syndrome type 4
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA280040

rs_104894366

6 SubmittersRCV000043674 RCV000211723 RCV000207495 RCV000850569 RCV001851825

NM_033360.4(KRAS):c.*9T>G

SNV
Germline

Chr12:25209907

Pathogenic

Noonan syndrome 3

No Assertion Criteria Provided

CA256482

rs_104894367

1 SubmittersRCV000013422

NM_033360.4(KRAS):c.15A>T (p.Lys5Asn)

SNV
Germline

Chr12:25245370

Pathogenic

Cardiofaciocutaneous syndrome 2
Condition: not provided
Inborn genetic diseases
Noonan syndrome

Reviewed By Expert Panel

CA234191

rs_104894361

4 SubmittersRCV000013425 RCV000153427 RCV000623267 RCV000520745

NM_004985.5(KRAS):c.13A>G (p.Lys5Glu)

SNV
Germline

Chr12:25245372

Pathogenic/Likely pathogenic

Noonan syndrome 3
RASopathy
Noonan syndrome
Condition: not provided
Prostate cancer, hereditary, 1
KRAS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA250291

rs_193929331

10 SubmittersRCV000013427 RCV000149836 RCV000605141 RCV000364781 RCV002291547 RCV004549360

NM_033360.4(KRAS):c.178G>A (p.Gly60Ser)

SNV
Germline

Chr12:25227346

Pathogenic

Noonan syndrome 3
Condition: not provided
RASopathy
Cardiofaciocutaneous syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA256484

rs_104894359

6 SubmittersRCV000013428 RCV000157934 RCV000689097 RCV002470709

NM_005343.4(HRAS):c.181C>A (p.Gln61Lys)

SNV
Germline/somatic

Chr11:533875

Pathogenic/Likely pathogenic

Thyroid cancer, nonmedullary, 2
Spermatocytic seminoma
Noonan syndrome 3
Breast neoplasm
Lip and oral cavity carcinoma
Condition: not provided
Epidermal nevus

Criteria Provided
Multiple Submitters
No Conflicts

CA122547

rs_28933406

6 SubmittersRCV000013434 RCV000022795 RCV000587258 RCV000439343 RCV001255683 RCV000681435 RCV004562206

NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)

SNV
Germline/somatic

Chr11:534289

Pathogenic

Costello syndrome
Myopathy, congenital, with excess of muscle spindles
Epidermal nevus with urothelial cancer, somatic
Condition: not provided
Nevus sebaceous
RASopathy
Breast neoplasm
Transitional cell carcinoma of the bladder
Myelodysplastic syndrome
Adenoid cystic carcinoma
Carcinoma of esophagus
Uterine carcinosarcoma
Thyroid tumor
Papillary renal cell carcinoma, sporadic
Squamous cell carcinoma of the skin
Nasopharyngeal neoplasm
Multiple myeloma
Neoplasm of the large intestine
Malignant neoplasm of body of uterus
Pancreatic adenocarcinoma
Neoplasm of uterine cervix
Malignant melanoma of skin
Lung adenocarcinoma
Acute myeloid leukemia
Gastric adenocarcinoma
Squamous cell carcinoma of the head and neck
Prostate adenocarcinoma
Ovarian serous cystadenocarcinoma
Glioblastoma
Hepatocellular carcinoma
Wooly hair nevus
Rhabdomyosarcoma
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
Lip and oral cavity carcinoma
See cases
HRAS-related disorder
Noonan syndrome 1
Epidermal nevus

Reviewed By Expert Panel

CA122549

rs_104894229

40 SubmittersRCV000013435 RCV000013436 RCV000022796 RCV000081295 RCV000029209 RCV000149828 RCV000430608 RCV000435163 RCV000440863 RCV000440993 RCV000445039 RCV000417494 RCV000425542 RCV000432342 RCV000432945 RCV000422253 RCV000440297 RCV000443940 RCV000430725 RCV000433576 RCV000438022 RCV000419709 RCV000420366 RCV000422656 RCV000423310 RCV000424896 RCV000427772 RCV000430011 RCV000432984 RCV000440237 RCV000487471 RCV001257537 RCV001813185 RCV002453256 RCV001255689 RCV003156059 RCV003398496 RCV003450635 RCV003450636

NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)

SNV
Germline/somatic

Chr11:534288

Pathogenic

Costello syndrome
Adenoid cystic carcinoma
Neoplasm of the large intestine
Papillary renal cell carcinoma, sporadic
Malignant melanoma of skin
Squamous cell carcinoma of the skin
Malignant neoplasm of body of uterus
Ovarian serous cystadenocarcinoma
Condition: not provided
Glioblastoma
Transitional cell carcinoma of the bladder
Gastric adenocarcinoma
Nasopharyngeal neoplasm
Neoplasm of uterine cervix
Multiple myeloma
Hepatocellular carcinoma
Pancreatic adenocarcinoma
Thyroid tumor
Prostate adenocarcinoma
Carcinoma of esophagus
Uterine carcinosarcoma
Inborn genetic diseases
Squamous cell carcinoma of the head and neck
6 conditions
Breast neoplasm
Acute myeloid leukemia
Myelodysplastic syndrome
Lung adenocarcinoma
Noonan syndrome and Noonan-related syndrome
Rhabdomyosarcoma

Criteria Provided
Multiple Submitters
No Conflicts

CA256486

rs_104894230

10 SubmittersRCV000013437 RCV000418547 RCV000422263 RCV000430806 RCV000417508 RCV000435619 RCV000423413 RCV000423622 RCV000207503 RCV000440663 RCV000425989 RCV000426130 RCV000428375 RCV000441501 RCV000444092 RCV000433266 RCV000445257 RCV000428172 RCV000433587 RCV000423741 RCV000425511 RCV000623953 RCV000432956 RCV000762848 RCV000435805 RCV000436832 RCV000442448 RCV000445090 RCV001813186 RCV001257536

NM_005343.4(HRAS):c.38G>A (p.Gly13Asp)

SNV
Germline/somatic

Chr11:534285

Pathogenic

Costello syndrome
Condition: not provided
Neoplasm of the large intestine
RASopathy
Non-immune hydrops fetalis
Noonan syndrome and Noonan-related syndrome
HRAS-related disorder
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA256488

rs_104894226

14 SubmittersRCV000013438 RCV000157913 RCV000439514 RCV000781469 RCV001376018 RCV001813187 RCV003390677 RCV002476960

NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)

SNV
Germline/somatic

Chr11:534286

Pathogenic

Costello syndrome
RASopathy
Breast neoplasm
Pancreatic adenocarcinoma
Condition: not provided
Acute myeloid leukemia
Neoplasm of the large intestine
Neoplasm of uterine cervix
Squamous cell carcinoma of the head and neck
Multiple myeloma
Malignant melanoma of skin
Gastric adenocarcinoma
Lung adenocarcinoma
Neoplasm
Thyroid tumor
Hepatocellular carcinoma
Squamous cell lung carcinoma
B-cell chronic lymphocytic leukemia
Transitional cell carcinoma of the bladder
Malignant neoplasm of body of uterus
Squamous cell carcinoma of the skin
6 conditions
Noonan syndrome
Noonan syndrome and Noonan-related syndrome
HRAS-related disorder

Reviewed By Expert Panel

CA295247

rs_104894228

17 SubmittersRCV000013440 RCV000149831 RCV000424247 RCV000425964 RCV000207504 RCV000433893 RCV000444110 RCV000445225 RCV000423190 RCV000417661 RCV000426653 RCV000439052 RCV000420958 RCV000439954 RCV000428812 RCV000445336 RCV000431688 RCV000434069 RCV000436007 RCV000436205 RCV000441514 RCV000762847 RCV000678903 RCV001813188 RCV003421918

NM_005343.4(HRAS):c.35G>A (p.Gly12Asp)

SNV
Germline/somatic

Chr11:534288

Pathogenic/Likely pathogenic

Costello syndrome, severe
Nevus sebaceous
Costello syndrome
RASopathy
Condition: not provided
Breast neoplasm
Non-immune hydrops fetalis
Noonan syndrome and Noonan-related syndrome
Lip and oral cavity carcinoma

Criteria Provided
Multiple Submitters
No Conflicts

CA122555

rs_104894230

13 SubmittersRCV000013446 RCV000029210 RCV000038460 RCV000149830 RCV000212496 RCV000429375 RCV001375956 RCV001813189 RCV001255681

NM_005633.4(SOS1):c.797C>A (p.Thr266Lys)

SNV
Germline

Chr2:39051211

Pathogenic

Noonan syndrome 4
Noonan syndrome
RASopathy
Condition: not provided
Fibromatosis, gingival, 1
Noonan syndrome 4
Noonan syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA256578

rs_137852812

10 SubmittersRCV000013729 RCV000038570 RCV000149833 RCV000213007 RCV000515403 RCV003450637

NM_005633.4(SOS1):c.806T>G (p.Met269Arg)

SNV
Germline

Chr2:39051202

Pathogenic

Noonan syndrome 4
Condition: not provided
Noonan syndrome
RASopathy
Noonan syndrome 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA235346

rs_137852813

13 SubmittersRCV000013730 RCV000157691 RCV000211854 RCV000554031 RCV000856805 RCV002415412

NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly)

SNV
Germline

Chr2:39022774

Pathogenic

Noonan syndrome 4
Noonan syndrome
Condition: not provided
RASopathy
Fibromatosis, gingival, 1
Noonan syndrome 4
Cardiovascular phenotype

Reviewed By Expert Panel

CA235350

rs_137852814

25 SubmittersRCV000013731 RCV000156980 RCV000157693 RCV000159174 RCV000515160 RCV002399321

NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser)

SNV
Germline

Chr2:39022772

Pathogenic

Condition: not provided
Noonan syndrome
RASopathy
Noonan syndrome 4
Fibromatosis, gingival, 1
Noonan syndrome and Noonan-related syndrome
Noonan syndrome 1
Noonan syndrome 4

Reviewed By Expert Panel

CA256580

rs_267607079

13 SubmittersRCV000159177 RCV000156992 RCV000654947 RCV000763086 RCV000787998 RCV000856746 RCV000013732

NM_005633.4(SOS1):c.1294T>C (p.Trp432Arg)

SNV
Germline

Chr2:39023134

Pathogenic

Noonan syndrome 4
Condition: not provided
Noonan syndrome
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA256582

rs_267607080

8 SubmittersRCV000013733 RCV000159161 RCV000211853 RCV000818949

NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser)

SNV
Germline

Chr12:112450394

Pathogenic

Noonan syndrome 1
RASopathy
Noonan syndrome
Condition: not provided
Noonan syndrome 1
LEOPARD syndrome 1
Metachondromatosis
Juvenile myelomonocytic leukemia
Noonan syndrome 1
LEOPARD syndrome 1
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA256749

rs_121918453

16 SubmittersRCV000014252 RCV000033471 RCV000157001 RCV000212890 RCV000576667 RCV000762883 RCV001813190

NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)

SNV
Germline

Chr12:112450395

Pathogenic/Likely pathogenic

Noonan syndrome 1
Noonan syndrome
Condition: not provided
Juvenile myelomonocytic leukemia
Noonan syndrome 1
LEOPARD syndrome 1
Metachondromatosis
RASopathy
Noonan syndrome 3
Cardiovascular phenotype
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA235319

rs_121918454

19 SubmittersRCV000014253 RCV000157006 RCV000157679 RCV000515213 RCV000707460 RCV000587329 RCV002426502 RCV001813191

NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)

SNV
Germline

Chr12:112477719

Pathogenic

Noonan syndrome 1
RASopathy
Condition: not provided
Noonan syndrome
Metachondromatosis
Juvenile myelomonocytic leukemia
Noonan syndrome 1
LEOPARD syndrome 1
Noonan syndrome 1
LEOPARD syndrome 1
Cardiovascular phenotype
Metachondromatosis
Noonan syndrome 1
LEOPARD syndrome 1
not specified
Thrombocytopenia
Abnormal bleeding
LEOPARD syndrome 1
Hereditary cancer-predisposing syndrome
Noonan syndrome and Noonan-related syndrome
Metachondromatosis
PTPN11-related disorder
Male infertility with azoospermia or oligozoospermia due to single gene mutation

Reviewed By Expert Panel

CA220158

rs_28933386

67 SubmittersRCV000014254 RCV000033516 RCV000077863 RCV000156977 RCV000515324 RCV000576594 RCV000621227 RCV000850589 RCV000999988 RCV001270562 RCV001253546 RCV001293867 RCV001813192 RCV003147284 RCV004541002 RCV003991568

NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)

SNV
Germline

Chr12:112477720

Pathogenic

Noonan syndrome 1
RASopathy
Noonan syndrome
Condition: not provided
Noonan syndrome 3
Metachondromatosis
Juvenile myelomonocytic leukemia
Noonan syndrome 1
LEOPARD syndrome 1
LEOPARD syndrome 1
Noonan syndrome 1
LEOPARD syndrome 1
Noonan syndrome and Noonan-related syndrome
PTPN11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA235328

rs_121918455

36 SubmittersRCV000014255 RCV000033518 RCV000037669 RCV000157682 RCV000588570 RCV000515421 RCV001197417 RCV001027696 RCV001813193 RCV004532339

NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)

SNV
Germline

Chr12:112473023

Pathogenic/Likely pathogenic

RASopathy
LEOPARD syndrome 1
Noonan syndrome with multiple lentigines
Condition: not provided
Noonan syndrome 1
CBL-related disorder
Cardiovascular phenotype
not specified
Metachondromatosis
Juvenile myelomonocytic leukemia
Noonan syndrome 1
LEOPARD syndrome 1
Noonan syndrome with multiple lentigines
Noonan syndrome
Noonan syndrome and Noonan-related syndrome
PTPN11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA220149

rs_121918456

30 SubmittersRCV000033504 RCV000055890 RCV000030620 RCV000077859 RCV000577894 RCV000492270 RCV000617951 RCV001000775 RCV000768062 RCV000824744 RCV001813194 RCV004528108

NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)

SNV
Germline

Chr12:112450364

Pathogenic

Noonan syndrome 1
RASopathy
Condition: not provided
Noonan syndrome
6 conditions
Metachondromatosis
Juvenile myelomonocytic leukemia
Noonan syndrome 1
LEOPARD syndrome 1
Juvenile myelomonocytic leukemia
Noonan syndrome
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
PTPN11-related disorder

Reviewed By Expert Panel

CA234749

rs_121918460

24 SubmittersRCV000014257 RCV000033466 RCV000153794 RCV000156993 RCV000590972 RCV000762882 RCV000824739 RCV001813195 RCV002408460 RCV004532340

NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)

SNV
Germline

Chr12:112450362

Pathogenic

Noonan syndrome 1
RASopathy
Condition: not provided
Noonan syndrome
Short stature
Abnormal cardiovascular system morphology
Juvenile myelomonocytic leukemia
Noonan syndrome
LEOPARD syndrome 1
Non-immune hydrops fetalis
Noonan syndrome and Noonan-related syndrome
Metachondromatosis
Juvenile myelomonocytic leukemia
Noonan syndrome 1
LEOPARD syndrome 1
Metachondromatosis
PTPN11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA177665

rs_121918461

22 SubmittersRCV000014258 RCV000033464 RCV000077856 RCV000156984 RCV000626829 RCV000824738 RCV001270166 RCV001376030 RCV001813196 RCV002490363 RCV003147285 RCV004532341

NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)

SNV
Germline

Chr12:112488466

Pathogenic

LEOPARD syndrome 1
RASopathy
Noonan syndrome 1
Noonan syndrome
Condition: not provided
Noonan syndrome with multiple lentigines
Metachondromatosis
Juvenile myelomonocytic leukemia
Noonan syndrome 1
LEOPARD syndrome 1
PTPN11-related disorder
Hypertrophic cardiomyopathy
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype

Reviewed By Expert Panel

CA220134

rs_121918457

37 SubmittersRCV000055884 RCV000033533 RCV000106323 RCV000157014 RCV000077851 RCV000208002 RCV000515406 RCV000723326 RCV000853462 RCV001813197 RCV002390104

NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr)

SNV
Germline

Chr12:112489080

Pathogenic

Noonan syndrome 1
Juvenile myelomonocytic leukemia
Noonan syndrome
Noonan syndrome
Condition: not provided
RASopathy
Metachondromatosis
Juvenile myelomonocytic leukemia
Noonan syndrome 1
LEOPARD syndrome 1
PTPN11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA180739

rs_121918458

11 SubmittersRCV000014260 RCV000033543 RCV000156995 RCV000212897 RCV001851849 RCV002490364 RCV004532342

NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)

SNV
Germline

Chr12:112450368

Pathogenic

Noonan syndrome 1
RASopathy
Condition: not provided
Noonan syndrome
Metachondromatosis
Juvenile myelomonocytic leukemia
Noonan syndrome 1
LEOPARD syndrome 1
Noonan syndrome 3
Lymphoma
B lymphoblastic leukemia lymphoma, no ICD-O subtype
Metachondromatosis
Noonan syndrome 1
LEOPARD syndrome 1
Noonan syndrome and Noonan-related syndrome
Metachondromatosis
LEOPARD syndrome 1
PTPN11-related disorder

Reviewed By Expert Panel

CA220146

rs_121918459

43 SubmittersRCV000014261 RCV000033468 RCV000077857 RCV000157000 RCV000515408 RCV000588678 RCV000722014 RCV001249667 RCV001813198 RCV003147286 RCV003137518 RCV004528109

NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile)

SNV
Germline

Chr12:112450398

Pathogenic

Noonan syndrome 1
RASopathy
Noonan syndrome
Condition: not provided
Juvenile myelomonocytic leukemia
Noonan syndrome 1
LEOPARD syndrome 1
Metachondromatosis
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
LEOPARD syndrome 1
Metachondromatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA256752

rs_121918462

18 SubmittersRCV000014262 RCV000033475 RCV000156985 RCV000212891 RCV000515312 RCV001813199 RCV002415414 RCV003147288 RCV003147287

NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser)

SNV
Germline/somatic

Chr12:112477651

Pathogenic

Noonan syndrome 1
Noonan syndrome
Condition: not provided
Early T cell progenitor acute lymphoblastic leukemia
RASopathy
Non-immune hydrops fetalis
Noonan syndrome and Noonan-related syndrome
PTPN11-related disorder
LEOPARD syndrome 1
Metachondromatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA204408

rs_121918463

25 SubmittersRCV000014263 RCV000037663 RCV000077862 RCV000190417 RCV000458650 RCV001376066 RCV001813200 RCV004532343 RCV004562208 RCV004562207

NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys)

SNV
Germline/somatic

Chr12:112450406

Conflicting classifications of pathogenicity

Juvenile myelomonocytic leukemia
RASopathy
Noonan syndrome
Condition: not provided
Squamous cell lung carcinoma
Neuroblastoma
Astrocytoma
Multiple myeloma
Neoplasm of the large intestine
Malignant neoplastic disease
PTPN11-related disorder

Criteria Provided
Conflicting Classifications

CA123038

rs_121918464

11 SubmittersRCV000014264 RCV000033476 RCV000156974 RCV000212892 RCV000433549 RCV000422541 RCV000432364 RCV000422851 RCV000439757 RCV001254876 RCV004545728

NM_002834.5(PTPN11):c.227A>T (p.Glu76Val)

SNV
Germline/somatic

Chr12:112450407

Pathogenic

Juvenile myelomonocytic leukemia
RASopathy
Condition: not provided
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA123041

rs_121918465

6 SubmittersRCV000014265 RCV000781775 RCV000788241 RCV001813201

NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)

SNV
Germline

Chr12:112450416

Pathogenic

Noonan syndrome 1
RASopathy
Noonan syndrome
Condition: not provided
Noonan syndrome 3
Metachondromatosis
Juvenile myelomonocytic leukemia
Noonan syndrome 1
LEOPARD syndrome 1
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
PTPN11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA235322

rs_121918466

28 SubmittersRCV000014268 RCV000033480 RCV000037641 RCV000157680 RCV000590740 RCV000515381 RCV001813202 RCV002453257 RCV004532344

NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr)

SNV
Germline

Chr12:112488444

Conflicting classifications of pathogenicity

Condition: not provided
LEOPARD syndrome 1
Noonan syndrome with multiple lentigines
RASopathy
Noonan syndrome 1
not specified
PTPN11-related disorder

Criteria Provided
Conflicting Classifications

CA261534

rs_121918468

12 SubmittersRCV000033530 RCV000055882 RCV000037611 RCV000529342 RCV001089941 RCV001002017 RCV004532345

NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala)

SNV
Germline

Chr12:112488454

Pathogenic

RASopathy
LEOPARD syndrome 1
Condition: not provided
Noonan syndrome with multiple lentigines
Noonan syndrome
Noonan syndrome 1
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
PTPN11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA220131

rs_121918469

18 SubmittersRCV000033531 RCV000055883 RCV000077850 RCV000824746 RCV001281363 RCV001813203 RCV002390105 RCV004532346

NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro)

SNV
Germline

Chr12:112489105

Pathogenic

LEOPARD syndrome 1
RASopathy
Condition: not provided
Noonan syndrome with multiple lentigines
Noonan syndrome 3
Noonan syndrome with multiple lentigines
Noonan syndrome
Noonan syndrome 1
Noonan syndrome 1
LEOPARD syndrome 1
PTPN11-related disorder

Reviewed By Expert Panel

CA256758

rs_121918470

15 SubmittersRCV000014272 RCV000033554 RCV000210036 RCV000520822 RCV000586289 RCV000824752 RCV001254107 RCV002286696 RCV004541003

NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg)

SNV
Germline

Chr12:112489105

Pathogenic/Likely pathogenic

Noonan syndrome 1
Condition: not provided
LEOPARD syndrome 1
RASopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA256761

rs_121918470

10 SubmittersRCV000014273 RCV000414743 RCV001002770 RCV000780654 RCV004018624

NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)

SNV
Germline

Chr12:112419116

Pathogenic/Likely pathogenic

Noonan syndrome 1
Condition: not provided
Noonan syndrome
RASopathy
Metachondromatosis
See cases
Juvenile myelomonocytic leukemia
Noonan syndrome 1
LEOPARD syndrome 1
Metachondromatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA256764

rs_267606990

18 SubmittersRCV000014277 RCV000033445 RCV000211847 RCV000694389 RCV000988912 RCV003156060 RCV002496356

NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)

SNV
Germline

Chr15:66436843

Pathogenic

Cardiofaciocutaneous syndrome 3
Cardio-facio-cutaneous syndrome
Condition: not provided
RASopathy
Inborn genetic diseases
Noonan syndrome 1
Cardiofaciocutaneous syndrome 3
Melorheostosis
MAP2K1-related disorder
Noonan syndrome 1

Reviewed By Expert Panel

CA280036

rs_121908595

31 SubmittersRCV000043672 RCV000208757 RCV000207506 RCV000541525 RCV000623321 RCV000763362 RCV001197351 RCV004532347 RCV003450638

NM_005188.4(CBL):c.1100A>C (p.Gln367Pro)

SNV
Germline

Chr11:119278170

Pathogenic/Likely pathogenic

Condition: not provided
RASopathy
Inborn genetic diseases
CBL-related disorder
Noonan syndrome and Noonan-related syndrome
Noonan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA123484

rs_267606704

12 SubmittersRCV000033352 RCV000702464 RCV001266923 RCV001353389 RCV001813204 RCV004017245

NM_005188.4(CBL):c.1111T>C (p.Tyr371His)

SNV
Germline/somatic

Chr11:119278181

Pathogenic

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Condition: not provided
RASopathy
Hematologic neoplasm
See cases
CBL-related disorder
Juvenile myelomonocytic leukemia
CBL-related disorder
Juvenile myelomonocytic leukemia

Criteria Provided
Multiple Submitters
No Conflicts

CA123492

rs_267606706

13 SubmittersRCV000014822 RCV000441724 RCV000691502 RCV000437548 RCV002274879 RCV003387502 RCV003315401 RCV001527385

NM_002524.5(NRAS):c.37G>C (p.Gly13Arg)

SNV
Germline/somatic

Chr1:114716124

Likely pathogenic

Carcinoma of colon
Large congenital melanocytic nevus
Medulloblastoma
Transitional cell carcinoma of the bladder
Gastric adenocarcinoma
Melanoma
Multiple myeloma
Myelodysplastic syndrome
Non-Hodgkin lymphoma
Acute myeloid leukemia
Neoplasm of the large intestine
Malignant melanoma of skin
Noonan syndrome 6

Criteria Provided
Single Submitter

CA151261

rs_121434595

4 SubmittersRCV000014913 RCV000114743 RCV000419545 RCV000419583 RCV000427817 RCV000424942 RCV000426328 RCV000428963 RCV000437450 RCV000438070 RCV000434327 RCV000444449 RCV001781267

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_002524.5(NRAS):c.38G>A (p.Gly13Asp)

SNV
Germline/somatic

Chr1:114716123

Pathogenic/Likely pathogenic

Juvenile myelomonocytic leukemia
Noonan syndrome 6
Autoimmune lymphoproliferative syndrome type 4
Condition: not provided
Myelodysplastic syndrome
Gastric adenocarcinoma
Multiple myeloma
Medulloblastoma
Neoplasm of the large intestine
Acute myeloid leukemia
Transitional cell carcinoma of the bladder
Malignant melanoma of skin
Melanoma
Non-Hodgkin lymphoma
Acute megakaryoblastic leukemia in down syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA123620

rs_121434596

6 SubmittersRCV000014915 RCV000022690 RCV000144962 RCV000157672 RCV000431528 RCV000430350 RCV000433031 RCV000421906 RCV000440593 RCV000440357 RCV000421229 RCV000422699 RCV000431020 RCV000442419 RCV001293767

NM_002524.5(NRAS):c.149C>T (p.Thr50Ile)

SNV
Germline

Chr1:114713941

Pathogenic

Noonan syndrome 6
Noonan syndrome
Noonan syndrome 1
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA257019

rs_267606921

5 SubmittersRCV000014916 RCV000211835 RCV000208537 RCV000463185

NM_002524.5(NRAS):c.179G>A (p.Gly60Glu)

SNV
Germline

Chr1:114713911

Pathogenic

Noonan syndrome 6
Condition: not provided
Noonan syndrome 1
RASopathy
NRAS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA257021

rs_267606920

7 SubmittersRCV000014917 RCV000158982 RCV000208552 RCV001382056 RCV003415702

NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)

SNV
Germline/somatic

Chr3:12604200

Pathogenic

Noonan syndrome 5
LEOPARD syndrome 2
Noonan syndrome with multiple lentigines
Noonan syndrome
Condition: not provided
RASopathy
Lung adenocarcinoma
Neoplasm of the large intestine
Gastric adenocarcinoma
Malignant melanoma of skin
Dilated cardiomyopathy 1NN
Noonan syndrome 5
LEOPARD syndrome 2
Noonan syndrome with multiple lentigines
Noonan syndrome
Noonan syndrome 1
RAF1-related disorder
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
See cases

Reviewed By Expert Panel

CA235334

rs_80338796

38 SubmittersRCV000014985 RCV000014986 RCV000020509 RCV000157426 RCV000157685 RCV000149826 RCV000418940 RCV000436233 RCV000428775 RCV000435984 RCV000515222 RCV000824754 RCV000856803 RCV001731288 RCV001813205 RCV002399323 RCV003231105

NM_002880.4(RAF1):c.781C>T (p.Pro261Ser)

SNV
Germline/somatic

Chr3:12604189

Pathogenic

Noonan syndrome 5
Condition: not provided
Primary familial hypertrophic cardiomyopathy
Noonan syndrome
RASopathy
Cardiovascular phenotype
Inborn genetic diseases
Noonan syndrome 1
Noonan syndrome and Noonan-related syndrome

Reviewed By Expert Panel

CA257062

rs_121434594

13 SubmittersRCV000014987 RCV000159076 RCV000208421 RCV000211849 RCV000468714 RCV000618568 RCV000622893 RCV003450640 RCV001813206

NM_002880.4(RAF1):c.1472C>G (p.Thr491Arg)

SNV
Germline

Chr3:12585745

Likely pathogenic

Noonan syndrome 5
Condition: not provided
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA257064

rs_80338799

3 SubmittersRCV000014988 RCV000680803 RCV001229313

NM_002880.4(RAF1):c.1837C>G (p.Leu613Val)

SNV
Germline/somatic

Chr3:12584624

Pathogenic

Noonan syndrome 5
LEOPARD syndrome 2
Noonan syndrome with multiple lentigines
RASopathy
Condition: not provided
Noonan syndrome
Noonan syndrome with multiple lentigines
Noonan syndrome
Hypertrophic cardiomyopathy 1
RAF1-related disorder

Reviewed By Expert Panel

CA257066

rs_80338797

12 SubmittersRCV000014990 RCV000014989 RCV000020508 RCV000159089 RCV000254689 RCV000440827 RCV000824753 RCV001256891 RCV004532353

NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu)

SNV
Germline/somatic

Chr7:140781617

Pathogenic

Carcinoma of colon
RASopathy
Condition: not provided
Neoplasm
Noonan syndrome
Cardio-facio-cutaneous syndrome
B-cell chronic lymphocytic leukemia
Cardio-facio-cutaneous syndrome

Reviewed By Expert Panel

CA250636

rs_121913348

8 SubmittersRCV000014997 RCV000033304 RCV000207512 RCV000418719 RCV000844618 RCV000436895 RCV001261044

NM_004333.6(BRAF):c.736G>C (p.Ala246Pro)

SNV
Germline

Chr7:140801536

Pathogenic

Cardiofaciocutaneous syndrome 1
Noonan syndrome
Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
Condition: not provided
Noonan syndrome
RASopathy
Noonan syndrome 1
Noonan syndrome 7

Reviewed By Expert Panel

CA279968

rs_180177034

11 SubmittersRCV000014998 RCV000033285 RCV000208416 RCV000235118 RCV000678900 RCV001047900 RCV003150930 RCV003338381

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.770A>G (p.Gln257Arg)

SNV
Germline

Chr7:140801502

Pathogenic

Cardiofaciocutaneous syndrome 1
RASopathy
Condition: not provided
Cardio-facio-cutaneous syndrome
Cardiofaciocutaneous syndrome 1
LEOPARD syndrome 3
Noonan syndrome 7
Noonan syndrome 7
LEOPARD syndrome 3
Noonan syndrome and Noonan-related syndrome
Noonan syndrome 1
6 conditions
Cardiovascular phenotype

Reviewed By Expert Panel

CA222583

rs_180177035

30 SubmittersRCV000015007 RCV000033289 RCV000080904 RCV000208766 RCV001027771 RCV001261967 RCV001329219 RCV001813208 RCV001813744 RCV003224098 RCV004018628

NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)

SNV
Germline/somatic

Chr7:140781602

Pathogenic

Cardiofaciocutaneous syndrome 1
RASopathy
Condition: not provided
Cardio-facio-cutaneous syndrome
Squamous cell lung carcinoma
Melanoma
Malignant melanoma of skin
Transitional cell carcinoma of the bladder
Squamous cell carcinoma of the skin
Neoplasm of the large intestine
Prostate adenocarcinoma
Lung adenocarcinoma
Multiple myeloma
not specified
Noonan syndrome and Noonan-related syndrome
Noonan syndrome 7
Noonan syndrome 1

Reviewed By Expert Panel

CA279970

rs_121913355

18 SubmittersRCV000015008 RCV000033307 RCV000212152 RCV000211748 RCV000427006 RCV000427215 RCV000419555 RCV000419576 RCV000437869 RCV000424773 RCV000434590 RCV000436804 RCV000443381 RCV000506575 RCV001813209 RCV002287336 RCV003450641

NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe)

SNV
Germline

Chr7:140778053

Pathogenic

Cardiofaciocutaneous syndrome 1
Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
Noonan syndrome
Condition: not provided
RASopathy
Ataxia-telangiectasia syndrome
BRAF-related disorder
Cardiovascular phenotype

Reviewed By Expert Panel

CA273414

rs_180177036

13 SubmittersRCV000015009 RCV000208764 RCV000211749 RCV000680805 RCV001172276 RCV001849264 RCV003415705 RCV004018629

NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu)

SNV
Germline

Chr7:140778013

Pathogenic/Likely pathogenic

Cardiofaciocutaneous syndrome 1
Condition: not provided
RASopathy
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA279972

rs_180177037

8 SubmittersRCV000015010 RCV000207517 RCV000779848 RCV001813210

NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys)

SNV
Germline

Chr7:140778007

Pathogenic/Likely pathogenic

Cardiofaciocutaneous syndrome 1
RASopathy
Condition: not provided
Cardio-facio-cutaneous syndrome
Noonan syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA273130

rs_180177038

7 SubmittersRCV000015011 RCV000033315 RCV000207513 RCV000844616 RCV004018630

NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp)

SNV
Germline

Chr7:140754187

Pathogenic

Cardiofaciocutaneous syndrome 1
Condition: not provided
Cardio-facio-cutaneous syndrome
RASopathy
Noonan syndrome 1
Cardiovascular phenotype

Reviewed By Expert Panel

CA279976

rs_180177040

16 SubmittersRCV000015013 RCV000033329 RCV000211751 RCV000474979 RCV003450642 RCV004018631

NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)

SNV
Germline

Chr7:140749365

Pathogenic/Likely pathogenic

Cardiofaciocutaneous syndrome 1
Condition: not provided
Inborn genetic diseases
Noonan syndrome 1
LEOPARD syndrome 3
Noonan syndrome 7
Lung carcinoma
Cardiofaciocutaneous syndrome 1
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA279981

rs_180177042

10 SubmittersRCV000015015 RCV000033337 RCV000622900 RCV000763164 RCV001851863

NM_002880.4(RAF1):c.1472C>T (p.Thr491Ile)

SNV
Germline/somatic

Chr3:12585745

Pathogenic

Noonan syndrome with multiple lentigines
Noonan syndrome
Cardiovascular phenotype
Condition: not provided
RASopathy

Reviewed By Expert Panel

CA261612

rs_80338799

7 SubmittersRCV000020507 RCV000037676 RCV000621393 RCV000159086 RCV000523483

NM_004333.6(BRAF):c.722C>T (p.Thr241Met)

SNV
Germline

Chr7:140801550

Pathogenic/Likely pathogenic

Noonan syndrome 7
Condition: not provided
Noonan syndrome 1
Noonan syndrome
Noonan syndrome 7
LEOPARD syndrome 3
Noonan syndrome 1
Cardiofaciocutaneous syndrome 1
Lung carcinoma
RASopathy
Cardiofaciocutaneous syndrome 1
Cardio-facio-cutaneous syndrome
BRAF-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA259660

rs_387906660

18 SubmittersRCV000022678 RCV000033281 RCV000208540 RCV000211753 RCV000515432 RCV000545320 RCV001329218 RCV003230371 RCV003398558

NM_004333.6(BRAF):c.722C>G (p.Thr241Arg)

SNV
Germline

Chr7:140801550

Pathogenic

Noonan syndrome 7
Noonan syndrome 1
Inborn genetic diseases
Condition: not provided
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA259663

rs_387906660

5 SubmittersRCV000022679 RCV000208548 RCV000624512 RCV001703420 RCV002513171

NM_004333.6(BRAF):c.721A>C (p.Thr241Pro)

SNV
Germline

Chr7:140801551

Pathogenic/Likely pathogenic

Cardiofaciocutaneous syndrome 1
LEOPARD syndrome 3
Noonan syndrome with multiple lentigines
Cardio-facio-cutaneous syndrome
Condition: not provided
LEOPARD syndrome 3
Noonan syndrome 7
Cardiofaciocutaneous syndrome 1
Noonan syndrome 1
Lung carcinoma
RASopathy
LEOPARD syndrome 3
Noonan syndrome 7
Cardiofaciocutaneous syndrome 1
Noonan syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA128663

rs_387906661

10 SubmittersRCV000022680 RCV000022681 RCV000055896 RCV000211752 RCV000207516 RCV000515363 RCV000654966 RCV001089761 RCV002288517

NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys)

SNV
Germline

Chr7:140777013

Pathogenic

Noonan syndrome 7
Noonan syndrome 1
RASopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA250333

rs_606231228

4 SubmittersRCV000022682 RCV000208560 RCV000191066 RCV001781297

NM_005188.4(CBL):c.1150T>C (p.Cys384Arg)

SNV
Germline/somatic

Chr11:119278220

Conflicting classifications of pathogenicity

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Hematologic neoplasm
Condition: not provided
RASopathy

Criteria Provided
Conflicting Classifications

CA128665

rs_387906664

4 SubmittersRCV000022698 RCV000420743 RCV001561040 RCV001857355

NM_005188.4(CBL):c.1186T>C (p.Cys396Arg)

SNV
Germline

Chr11:119278256

Conflicting classifications of pathogenicity

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Condition: not provided
RASopathy

Criteria Provided
Conflicting Classifications

CA128668

rs_387906665

3 SubmittersRCV000022699 RCV000157860 RCV002513172

NM_001042492.3(NF1):c.4231C>T (p.Leu1411Phe)

SNV
Germline

Chr17:31258401

Pathogenic/Likely pathogenic

Neurofibromatosis-Noonan syndrome
Condition: not provided
Neurofibromatosis, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA129599

rs_199474789

8 SubmittersRCV000023983 RCV000059194 RCV000195735

NM_005343.4(HRAS):c.37G>C (p.Gly13Arg)

SNV
Germline/somatic

Chr11:534286

Pathogenic/Likely pathogenic

Linear nevus sebaceous syndrome
Nevus sebaceous
Epidermal nevus
SPITZ NEVUS, SOMATIC
NEVUS SPILUS, SOMATIC
Malignant neoplasm of body of uterus
Pancreatic adenocarcinoma
Malignant melanoma of skin
Transitional cell carcinoma of the bladder
Multiple myeloma
Thyroid tumor
B-cell chronic lymphocytic leukemia
Neoplasm of the large intestine
Breast neoplasm
Acute myeloid leukemia
Gastric adenocarcinoma
Squamous cell carcinoma of the head and neck
Squamous cell lung carcinoma
Hepatocellular carcinoma
Squamous cell carcinoma of the skin
Lung adenocarcinoma
Neoplasm of uterine cervix
Costello syndrome
Noonan syndrome and Noonan-related syndrome
Lip and oral cavity carcinoma
Non-immune hydrops fetalis
cutaneous-skeletal hypophosphatemia syndrome
Epidermolytic nevus

Criteria Provided
Multiple Submitters
No Conflicts

CA129950

rs_104894228

10 SubmittersRCV000029213 RCV000029212 RCV000032852 RCV000173006 RCV000173005 RCV000422625 RCV000427669 RCV000430227 RCV000437649 RCV000443949 RCV000418725 RCV000420422 RCV000420481 RCV000432361 RCV000439826 RCV000424371 RCV000431824 RCV000419344 RCV000430065 RCV000435072 RCV000439525 RCV000440902 RCV001781319 RCV001813211 RCV001255682 RCV001376004 RCV001849283 RCV003458340

NM_002834.5(PTPN11):c.1380-14C>G

SNV
Germline

Chr12:112488429

Conflicting classifications of pathogenicity

Noonan syndrome
RASopathy

Criteria Provided
Conflicting Classifications

CA260521

rs_193922657

2 SubmittersRCV000030386 RCV003654178

NM_002524.5(NRAS):c.101C>T (p.Pro34Leu)

SNV
Germline/somatic

Chr1:114716060

Pathogenic

Epidermal nevus
Noonan syndrome 1

No Assertion Criteria Provided

CA130423

rs_397514553

2 SubmittersRCV000032848 RCV000208568

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_004333.6(BRAF):c.735A>C (p.Leu245Phe)

SNV
Germline

Chr7:140801537

Pathogenic

Condition: not provided
Cardio-facio-cutaneous syndrome
LEOPARD syndrome 3
RASopathy
Lung carcinoma
Noonan syndrome 1
Noonan syndrome 7
Cardiofaciocutaneous syndrome 1
LEOPARD syndrome 3
Noonan syndrome and Noonan-related syndrome

Reviewed By Expert Panel

CA280027

rs_397507466

7 SubmittersRCV000033283 RCV000037956 RCV000171142 RCV000469440 RCV000515291 RCV000788013

NM_004333.6(BRAF):c.735A>T (p.Leu245Phe)

SNV
Germline

Chr7:140801537

Pathogenic

Condition: not provided
Cardio-facio-cutaneous syndrome
Noonan syndrome with multiple lentigines
RASopathy
Noonan syndrome and Noonan-related syndrome
Neurodevelopmental delay

Reviewed By Expert Panel

CA280029

rs_397507466

6 SubmittersRCV000033284 RCV000037957 RCV000055897 RCV000688777 RCV000788012 RCV002273939

NM_004333.6(BRAF):c.740T>C (p.Phe247Ser)

SNV
Germline

Chr7:140801532

Likely pathogenic

Noonan syndrome and Noonan-related syndrome
Condition: not provided
RASopathy

Reviewed By Expert Panel

rs_397507467

3 SubmittersRCV000788011 RCV001703443 RCV003539763

NM_004333.6(BRAF):c.769C>A (p.Gln257Lys)

SNV
Germline

Chr7:140801503

Pathogenic/Likely pathogenic

Cardio-facio-cutaneous syndrome
Noonan syndrome
Inborn genetic diseases
Condition: not provided
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA280030

rs_397507469

4 SubmittersRCV000033288 RCV000624665 RCV000212151 RCV003539764

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_001374258.1(BRAF):c.1523T>C (p.Phe508Ser)

SNV
Germline

Chr7:140781605

Pathogenic/Likely pathogenic

Condition: not provided
Cardio-facio-cutaneous syndrome
RASopathy
Cardiofaciocutaneous syndrome 1
Noonan syndrome and Noonan-related syndrome
BRAF-related disorder
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA280002

rs_397507473

8 SubmittersRCV000033305 RCV000037917 RCV000797502 RCV001293860 RCV001813222 RCV003407389 RCV002251944

NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser)

SNV
Germline

Chr7:140778054

Likely pathogenic

Condition: not provided
Cardio-facio-cutaneous syndrome
RASopathy
Noonan syndrome and Noonan-related syndrome
7 conditions

Reviewed By Expert Panel

CA280052

rs_397507475

7 SubmittersRCV000033311 RCV000150207 RCV001172275 RCV001813223 RCV002496497

NM_004333.6(BRAF):c.1502A>C (p.Glu501Ala)

SNV
Germline

Chr7:140778006

Pathogenic

Condition: not provided
RASopathy
Cardiofaciocutaneous syndrome 1
Noonan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA281977

rs_180177039

5 SubmittersRCV000033316 RCV000822490 RCV001089762 RCV001261045

NM_004333.6(BRAF):c.1513C>T (p.Leu505Phe)

SNV
Germline

Chr7:140777995

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome
RASopathy

Criteria Provided
Conflicting Classifications

CA281980

rs_397507477

3 SubmittersRCV000033319 RCV000824923 RCV002513320

NM_004333.6(BRAF):c.1695T>G (p.Asp565Glu)

SNV
Germline

Chr7:140754233

Pathogenic/Likely pathogenic

Cardio-facio-cutaneous syndrome
Condition: not provided
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA280016

rs_397507480

3 SubmittersRCV000037927 RCV000207514 RCV001813224

NM_004333.6(BRAF):c.1787G>T (p.Gly596Val)

SNV
Germline/somatic

Chr7:140753348

Pathogenic

RASopathy
Condition: not provided
Cardio-facio-cutaneous syndrome
Multiple myeloma
Lung adenocarcinoma
Glioblastoma
Transitional cell carcinoma of the bladder
Noonan syndrome
Cardio-facio-cutaneous syndrome
Cardiofaciocutaneous syndrome 1
Inborn genetic diseases

Reviewed By Expert Panel

CA220161

rs_397507483

12 SubmittersRCV000033332 RCV000077865 RCV000208758 RCV000424067 RCV000441123 RCV000431311 RCV000438697 RCV000844615 RCV000856749 RCV001265809

NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile)

SNV
Germline/somatic

Chr7:140753339

Pathogenic

Condition: not provided
Melanoma
Neoplasm
Noonan syndrome
Cardiofaciocutaneous syndrome 1
RASopathy

Reviewed By Expert Panel

CA281995

rs_121913375

5 SubmittersRCV000033334 RCV000433036 RCV000440873 RCV000824927 RCV001705626 RCV001172273

NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile)

SNV
Germline

Chr7:140753333

Pathogenic/Likely pathogenic

RASopathy
Cardio-facio-cutaneous syndrome
Condition: not provided
Noonan syndrome 7
Cardiofaciocutaneous syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA282001

rs_397507484

7 SubmittersRCV000033336 RCV000824928 RCV003321487 RCV002510565 RCV002051799

NM_005188.4(CBL):c.2312A>T (p.Asp771Val)

SNV
Germline

Chr11:119298418

Conflicting classifications of pathogenicity

not specified
RASopathy
Noonan syndrome and Noonan-related syndrome
Condition: not provided
CBL-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA135718

rs_199788586

8 SubmittersRCV000038356 RCV000552056 RCV001813230 RCV001719718 RCV004532482 RCV004018707

NM_005188.4(CBL):c.2345C>T (p.Pro782Leu)

SNV
Germline

Chr11:119298451

Conflicting classifications of pathogenicity

not specified
CBL-related disorder
Condition: not provided
RASopathy
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA135724

rs_2229073

13 SubmittersRCV000038358 RCV000106328 RCV000680286 RCV001088335 RCV001813231 RCV002426535

NM_005188.4(CBL):c.2484G>A (p.Pro828=)

SNV
Germline

Chr11:119299544

Conflicting classifications of pathogenicity

not specified
RASopathy
CBL-related disorder
Noonan syndrome and Noonan-related syndrome
Condition: not provided
Cardiovascular phenotype
Juvenile myelomonocytic leukemia

Criteria Provided
Conflicting Classifications

CA181181

rs_149533467

11 SubmittersRCV000154693 RCV000460543 RCV001103081 RCV001813232 RCV002227048 RCV002426536 RCV003315532

NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)

SNV
Germline

Chr12:25245320

Pathogenic

RASopathy
Noonan syndrome
Condition: not provided
not specified
Cardiofaciocutaneous syndrome 2
Noonan syndrome 3
Noonan syndrome 3
Hereditary diffuse gastric adenocarcinoma
12 conditions

Reviewed By Expert Panel

CA235299

rs_727503110

11 SubmittersRCV000157946 RCV000150893 RCV000157667 RCV000506533 RCV000576784 RCV001095664 RCV001253410 RCV003224112

NM_004985.5(KRAS):c.101C>T (p.Pro34Leu)

SNV
Germline

Chr12:25245284

Pathogenic

Noonan syndrome
Condition: not provided
RASopathy
Noonan syndrome 3
Noonan syndrome 1

Reviewed By Expert Panel

CA235301

rs_104894366

7 SubmittersRCV000150892 RCV000157668 RCV000232330 RCV003152670 RCV003450654

NM_033360.4(KRAS):c.355G>A (p.Asp119Asn)

SNV
Germline

Chr12:25225709

Likely pathogenic

Condition: not provided
Noonan syndrome 3
Autoimmune lymphoproliferative syndrome type 4
Acute myeloid leukemia
Cardiofaciocutaneous syndrome 2
Noonan syndrome 3
KRAS-related RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA296084

rs_730880471

4 SubmittersRCV000157937 RCV000999628 RCV000850568 RCV001269478

NM_004985.5(KRAS):c.458A>G (p.Asp153Gly)

SNV
Germline

Chr12:25209904

Pathogenic/Likely pathogenic

Noonan syndrome
Condition: not provided
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA261707

rs_104894360

4 SubmittersRCV000038274 RCV000157939 RCV000526276

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_002524.5(NRAS):c.35G>T (p.Gly12Val)

SNV
Germline/somatic

Chr1:114716126

Pathogenic/Likely pathogenic

Noonan syndrome
Condition: not provided
Gastric adenocarcinoma
Myelodysplastic syndrome
Melanoma
Acute myeloid leukemia
Malignant melanoma of skin
Malignant neoplasm of body of uterus
Neoplasm of the large intestine
Multiple myeloma
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA261525

rs_121913237

6 SubmittersRCV000037576 RCV000158986 RCV000423890 RCV000432178 RCV000419124 RCV000429393 RCV000438750 RCV000438967 RCV000439421 RCV000421072 RCV001377735

NM_002524.5(NRAS):c.175G>A (p.Ala59Thr)

SNV
Germline

Chr1:114713915

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome 6
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA297023

rs_730880965

3 SubmittersRCV000158981 RCV002470724 RCV004017274

NM_002524.5(NRAS):c.360G>A (p.Leu120=)

SNV
Germline

Chr1:114709659

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Noonan syndrome 6
RASopathy
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA134569

rs_143020946

10 SubmittersRCV000037577 RCV000587570 RCV001100796 RCV001080827 RCV001813240 RCV002453281

NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala)

SNV
Germline

Chr12:112446385

Pathogenic

RASopathy
Noonan syndrome
Condition: not provided
Noonan syndrome 1
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
Metachondromatosis
Noonan syndrome 1
Juvenile myelomonocytic leukemia
LEOPARD syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA235307

rs_397507501

15 SubmittersRCV000227194 RCV000157002 RCV000157675 RCV001330777 RCV001813241 RCV002399352 RCV002482941

NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile)

SNV
Germline

Chr12:112450335

Likely pathogenic

Condition: not provided
Noonan syndrome
RASopathy
Noonan syndrome 1

Reviewed By Expert Panel

CA261555

rs_397507503

6 SubmittersRCV000033452 RCV000037621 RCV000809051 RCV002287349

NM_002834.5(PTPN11):c.166A>G (p.Ile56Val)

SNV
Germline

Chr12:112450346

Pathogenic

Noonan syndrome
Condition: not provided
Noonan syndrome 1
RASopathy
Noonan syndrome and Noonan-related syndrome
PTPN11-related disorder

Reviewed By Expert Panel

CA180973

rs_397507504

10 SubmittersRCV000154561 RCV000518841 RCV000995619 RCV000557839 RCV000788006 RCV004528152

NM_002834.5(PTPN11):c.172A>C (p.Asn58His)

SNV
Germline

Chr12:112450352

Pathogenic

Noonan syndrome
Condition: not provided
RASopathy
Noonan syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA235310

rs_397507505

11 SubmittersRCV000037626 RCV000157676 RCV000456871 RCV002470725

NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)

SNV
Germline

Chr12:112450352

Pathogenic

Condition: not provided
Noonan syndrome
RASopathy
LEOPARD syndrome 1
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
Noonan syndrome 1
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
Metachondromatosis
Male infertility with azoospermia or oligozoospermia due to single gene mutation
PTPN11-related disorder
LEOPARD syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA261558

rs_397507505

18 SubmittersRCV000033455 RCV000037627 RCV000234028 RCV000768061 RCV001283812 RCV001813242 RCV002408493 RCV003333001 RCV003991571 RCV004532483 RCV003333002

NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys)

SNV
Germline

Chr12:112450354

Pathogenic

Noonan syndrome
Condition: not provided
Noonan syndrome 3
RASopathy
Noonan syndrome 1
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA235313

rs_397507506

7 SubmittersRCV000037629 RCV000157677 RCV000587067 RCV000556984 RCV001358687 RCV001813243

NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys)

SNV
Germline

Chr12:112450354

Pathogenic/Likely pathogenic

Condition: not provided
Noonan syndrome 1
Noonan syndrome
Noonan syndrome 1
LEOPARD syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA261561

rs_397507506

8 SubmittersRCV000033457 RCV000037630 RCV000211846 RCV000515267 RCV000588173

NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser)

SNV
Germline

Chr12:112450358

Pathogenic/Likely pathogenic

Condition: not provided
Noonan syndrome
RASopathy
LEOPARD syndrome 1
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
PTPN11-related disorder
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA235370

rs_397507507

10 SubmittersRCV000157700 RCV000151684 RCV001219186 RCV002490444 RCV004532484 RCV003985264

NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala)

SNV
Germline

Chr12:112450359

Pathogenic

Condition: not provided
Noonan syndrome
Noonan syndrome 1
RASopathy
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA261562

rs_397507509

14 SubmittersRCV000033461 RCV000037631 RCV000416546 RCV000459297 RCV001813244 RCV002408494

NM_002834.5(PTPN11):c.181G>C (p.Asp61His)

SNV
Germline

Chr12:112450361

Pathogenic

Condition: not provided
Noonan syndrome 3
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA282070

rs_397507510

3 SubmittersRCV000033462 RCV000589874 RCV002408495

NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn)

SNV
Germline

Chr12:112450361

Pathogenic

RASopathy
Condition: not provided
LEOPARD syndrome 1
Noonan syndrome 1
Noonan syndrome
Noonan syndrome 1
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
LEOPARD syndrome 1
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
Metachondromatosis
LEOPARD syndrome 1
PTPN11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA235316

rs_397507510

20 SubmittersRCV000033463 RCV000157678 RCV000576434 RCV000599619 RCV001775072 RCV001813245 RCV002408496 RCV003224113 RCV003147304 RCV003147305 RCV004532485

NM_002834.5(PTPN11):c.184T>A (p.Tyr62Asn)

SNV
Germline

Chr12:112450364

Likely pathogenic

RASopathy
Noonan syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_121918460

2 SubmittersRCV002001115 RCV002052009

NM_002834.5(PTPN11):c.205G>C (p.Glu69Gln)

SNV
Germline

Chr12:112450385

Pathogenic

RASopathy
Noonan syndrome
Condition: not provided
Cardiovascular phenotype

Reviewed By Expert Panel

CA261565

rs_397507511

10 SubmittersRCV000033469 RCV000037633 RCV000212889 RCV002415446

NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu)

SNV
Germline

Chr12:112450391

Pathogenic/Likely pathogenic

Condition: not provided
Noonan syndrome
RASopathy
Noonan syndrome 3
Noonan syndrome 1
PTPN11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA273215

rs_397507512

9 SubmittersRCV000033470 RCV000151689 RCV000686123 RCV000586528 RCV003150933 RCV004532486

NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro)

SNV
Germline

Chr12:112450394

Pathogenic/Likely pathogenic

Condition: not provided
Noonan syndrome
Noonan syndrome with multiple lentigines
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA261571

rs_121918453

5 SubmittersRCV000033472 RCV000037635 RCV003103718 RCV001852674

NM_002834.5(PTPN11):c.217A>C (p.Thr73Pro)

SNV
Germline

Chr12:112450397

Pathogenic/Likely pathogenic

Condition: not provided
Noonan syndrome 1
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA282079

rs_397507513

4 SubmittersRCV000033474 RCV003152671 RCV003654180

NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp)

SNV
Germline

Chr12:112450408

Pathogenic

RASopathy
Noonan syndrome
Condition: not provided
Noonan syndrome 1
Juvenile myelomonocytic leukemia
LEOPARD syndrome 1
Metachondromatosis
Noonan syndrome and Noonan-related syndrome
Noonan syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA261580

rs_397507514

10 SubmittersRCV000033478 RCV000037639 RCV000254683 RCV000762884 RCV001813246 RCV003150934

NM_002834.5(PTPN11):c.228G>C (p.Glu76Asp)

SNV
Germline

Chr12:112450408

Pathogenic

Noonan syndrome
Condition: not provided
Noonan syndrome 1
RASopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA261577

rs_397507514

7 SubmittersRCV000037638 RCV000033479 RCV000856760 RCV000472904 RCV002453282

NM_002834.5(PTPN11):c.317A>C (p.Asp106Ala)

SNV
Germline

Chr12:112450497

Pathogenic

RASopathy
Condition: not provided
Noonan syndrome
Noonan syndrome and Noonan-related syndrome
Noonan syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA261584

rs_397507517

9 SubmittersRCV000033483 RCV000212893 RCV000157021 RCV001813247 RCV001261998

NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys)

SNV
Germline

Chr12:112450508

Pathogenic/Likely pathogenic

Condition: not provided
Noonan syndrome
Noonan syndrome 3
RASopathy
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA261587

rs_397507518

6 SubmittersRCV000033484 RCV000037645 RCV000589214 RCV000815390 RCV001813248

NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala)

SNV
Germline

Chr12:112450509

Pathogenic/Likely pathogenic

Condition: not provided
not specified
Noonan syndrome 1
RASopathy
Metachondromatosis
LEOPARD syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA282085

rs_397507519

7 SubmittersRCV000033485 RCV001002539 RCV001089572 RCV001221785 RCV003333003 RCV003333004

NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp)

SNV
Germline

Chr12:112453279

Pathogenic

RASopathy
Condition: not provided
Noonan syndrome
Juvenile myelomonocytic leukemia
Inborn genetic diseases
Noonan syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA261590

rs_397507520

8 SubmittersRCV000033490 RCV000212894 RCV000824742 RCV001267275 RCV000995621

NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)

SNV
Germline

Chr12:112453279

Pathogenic

RASopathy
Condition: not provided
Noonan syndrome 1
LEOPARD syndrome 1
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
Noonan syndrome 3
Microcephaly
Brachycephaly
Pectus excavatum
Ptosis
Global developmental delay
Noonan syndrome
Noonan syndrome
Juvenile myelomonocytic leukemia
Cardiovascular phenotype
Hypertrophic cardiomyopathy
Noonan syndrome and Noonan-related syndrome
Metachondromatosis
LEOPARD syndrome 1
PTPN11-related disorder

Reviewed By Expert Panel

CA177671

rs_397507520

37 SubmittersRCV000033491 RCV000077858 RCV000357736 RCV000515221 RCV000585988 RCV001003604 RCV000521568 RCV000824741 RCV000617179 RCV000626830 RCV001813249 RCV003147306 RCV003147307 RCV004528153

NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg)

SNV
Germline

Chr12:112472954

Pathogenic

Condition: not provided
RASopathy
Noonan syndrome 1
not specified
Noonan syndrome
Noonan syndrome with multiple lentigines
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA235325

rs_397507523

10 SubmittersRCV000157681 RCV000033497 RCV000585640 RCV000506790 RCV000824743 RCV002399353

NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe)

SNV
Germline

Chr12:112472968

Pathogenic

Noonan syndrome
Condition: not provided
RASopathy
Metachondromatosis
Noonan syndrome 1
Juvenile myelomonocytic leukemia
LEOPARD syndrome 1

Reviewed By Expert Panel

CA235373

rs_397507525

8 SubmittersRCV000037657 RCV000157701 RCV000522926 RCV002496500

NM_002834.5(PTPN11):c.785T>G (p.Leu262Arg)

SNV
Germline

Chr12:112472972

Pathogenic

Noonan syndrome 1
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA267615

rs_397507526

3 SubmittersRCV000106324 RCV000526885

NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)

SNV
Germline

Chr12:112472981

Pathogenic

Noonan syndrome
Condition: not provided
Noonan syndrome 1
PTPN11-related disorder
RASopathy
LEOPARD syndrome 1
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
LEOPARD syndrome 1
Metachondromatosis
Cardiovascular phenotype

Reviewed By Expert Panel

CA234739

rs_376607329

30 SubmittersRCV000037658 RCV000153788 RCV000234910 RCV000723292 RCV000477501 RCV001536068 RCV001253554 RCV000988915 RCV002415447

NM_002834.5(PTPN11):c.802G>T (p.Gly268Cys)

SNV
Germline

Chr12:112472989

Pathogenic/Likely pathogenic

Condition: not provided
Noonan syndrome
RASopathy
Noonan syndrome 1
LEOPARD syndrome 1
PTPN11-related disorder
Metachondromatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA261597

rs_397507527

6 SubmittersRCV000033502 RCV000037660 RCV000703823 RCV001729355 RCV003147309 RCV004545735 RCV003147308

NM_002834.5(PTPN11):c.824A>C (p.Asn275Thr)

SNV
Germline

Chr12:112473011

Conflicting classifications of pathogenicity

Noonan syndrome 1
not specified
Metachondromatosis
LEOPARD syndrome 1
Cardiovascular phenotype
RASopathy

Criteria Provided
Conflicting Classifications

rs_397507528

4 SubmittersRCV001111779 RCV001264525 RCV001109482 RCV001109483 RCV003298038 RCV001294974

NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)

SNV
Germline

Chr12:112473031

Pathogenic

RASopathy
Condition: not provided
Noonan syndrome
Noonan syndrome with multiple lentigines
Neurodevelopmental abnormality
LEOPARD syndrome 1
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
Noonan syndrome 1
Cardiovascular phenotype
LEOPARD syndrome 1
Noonan syndrome 1
PTPN11-related disorder
Noonan syndrome and Noonan-related syndrome
Noonan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA220152

rs_397507529

26 SubmittersRCV000033505 RCV000077860 RCV000824745 RCV001731328 RCV002054539 RCV001283770 RCV002444453 RCV003153317 RCV003387505 RCV001813250 RCV002273940

NM_002834.5(PTPN11):c.846C>G (p.Ile282Met)

SNV
Germline

Chr12:112473033

Pathogenic/Likely pathogenic

Condition: not provided
Noonan syndrome
Noonan syndrome 1
Cardiovascular phenotype
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA261600

rs_397507530

9 SubmittersRCV000033506 RCV000037661 RCV001027860 RCV002444454 RCV001852676

NM_002834.5(PTPN11):c.853T>G (p.Phe285Val)

SNV
Germline

Chr12:112473040

Conflicting classifications of pathogenicity

LEOPARD syndrome 1
Noonan syndrome 1
Metachondromatosis
Condition: not provided
RASopathy
LEOPARD syndrome 1
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
PTPN11-related disorder

Criteria Provided
Conflicting Classifications

rs_397507531

5 SubmittersRCV001027842 RCV002508779 RCV003539766 RCV003224796 RCV004532489

NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu)

SNV
Germline

Chr12:112473040

Pathogenic

Condition: not provided
Noonan syndrome
RASopathy
Noonan syndrome 3
LEOPARD syndrome 1
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
Noonan syndrome 1
LEOPARD syndrome 1
Metachondromatosis
Cardiovascular phenotype
PTPN11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA220155

rs_397507531

16 SubmittersRCV000077861 RCV000037662 RCV000231840 RCV000586058 RCV000762885 RCV000856809 RCV002288529 RCV004562222 RCV004018710 RCV004532490

NM_002834.5(PTPN11):c.854T>G (p.Phe285Cys)

SNV
Germline

Chr12:112477651

Pathogenic/Likely pathogenic

RASopathy
Noonan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA261603

rs_121918463

3 SubmittersRCV000033513 RCV000037664 RCV000212895

NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr)

SNV
Germline

Chr12:112477720

Pathogenic/Likely pathogenic

Condition: not provided
Noonan syndrome
Noonan syndrome and Noonan-related syndrome
LEOPARD syndrome 1
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
RASopathy
See cases
Cardiovascular phenotype
PTPN11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA261607

rs_121918455

12 SubmittersRCV000033517 RCV000037668 RCV001813251 RCV002482942 RCV001193110 RCV002287350 RCV002371807 RCV004532491

NM_002834.5(PTPN11):c.990A>C (p.Thr330=)

SNV
Germline

Chr12:112477913

Conflicting classifications of pathogenicity

RASopathy
not specified
Condition: not provided
Cardiovascular phenotype
Noonan syndrome and Noonan-related syndrome
Juvenile myelomonocytic leukemia

Criteria Provided
Conflicting Classifications

CA282105

rs_369739920

10 SubmittersRCV000033521 RCV000220386 RCV001711218 RCV002381281 RCV001813253 RCV003315538

NM_002834.5(PTPN11):c.1048T>G (p.Ser350Ala)

SNV
Germline

Chr12:112477971

Conflicting classifications of pathogenicity

Condition: not provided
Metachondromatosis
Juvenile myelomonocytic leukemia
Noonan syndrome 1
LEOPARD syndrome 1
RASopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA282111

rs_146571700

4 SubmittersRCV000033523 RCV000763793 RCV003539767 RCV004018712

NM_002834.5(PTPN11):c.1282G>A (p.Val428Met)

SNV
Germline

Chr12:112486532

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome 1
RASopathy
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA282120

rs_397507536

8 SubmittersRCV000033528 RCV001725940 RCV001852677 RCV001813255 RCV004018713 RCV001818207

NM_002834.5(PTPN11):c.1381G>T (p.Ala461Ser)

SNV
Germline

Chr12:112488444

Pathogenic

Condition: not provided
Noonan syndrome with multiple lentigines
RASopathy
LEOPARD syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA261537

rs_121918468

5 SubmittersRCV000033529 RCV000037612 RCV001060541 RCV001729356

NM_002834.5(PTPN11):c.1402A>C (p.Thr468Pro)

SNV
Germline

Chr12:112488465

Pathogenic

Condition: not provided
RASopathy
Noonan syndrome with multiple lentigines
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA282123

rs_397507537

5 SubmittersRCV000033532 RCV000231162 RCV001804754 RCV001813256 RCV002390129

NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr)

SNV
Germline

Chr12:112489047

Pathogenic/Likely pathogenic

Condition: not provided
Noonan syndrome
RASopathy
Noonan syndrome 1
Metachondromatosis
Noonan syndrome 1
Juvenile myelomonocytic leukemia
LEOPARD syndrome 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA261540

rs_397507539

12 SubmittersRCV000033535 RCV000208219 RCV000694590 RCV000660240 RCV002490445 RCV004018714

NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser)

SNV
Germline

Chr12:112489047

Pathogenic

RASopathy
Noonan syndrome
Condition: not provided
Noonan syndrome 1
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA261543

rs_397507539

12 SubmittersRCV000033536 RCV000157010 RCV000254684 RCV000984919 RCV001813257

NM_002834.5(PTPN11):c.1472C>A (p.Pro491His)

SNV
Germline

Chr12:112489048

Pathogenic/Likely pathogenic

Condition: not provided
Noonan syndrome
Short stature
Strabismus
Abnormal facial shape
RASopathy
Cardiovascular phenotype
Metachondromatosis
Noonan syndrome 1
Juvenile myelomonocytic leukemia
LEOPARD syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA261546

rs_397507540

8 SubmittersRCV000033537 RCV000037617 RCV001730478 RCV001378165 RCV002390130 RCV002490446

NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu)

SNV
Germline

Chr12:112489048

Pathogenic/Likely pathogenic

RASopathy
Noonan syndrome
Condition: not provided
Noonan syndrome 1
LEOPARD syndrome 1
Noonan syndrome and Noonan-related syndrome
LEOPARD syndrome 1
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
PTPN11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA273407

rs_397507540

16 SubmittersRCV000033538 RCV000156989 RCV000254685 RCV001002769 RCV001335067 RCV001813258 RCV002504856 RCV004532492

NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp)

SNV
Germline

Chr12:112489068

Pathogenic

RASopathy
LEOPARD syndrome 1
Condition: not provided
Noonan syndrome
Noonan syndrome with multiple lentigines
Noonan syndrome 1
LEOPARD syndrome 1
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
Cardiovascular phenotype
Noonan syndrome and Noonan-related syndrome
Metachondromatosis
PTPN11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA273451

rs_397507541

19 SubmittersRCV000033539 RCV000055885 RCV000254686 RCV000824747 RCV000722171 RCV002490447 RCV004018715 RCV001813259 RCV004558285 RCV004532493

NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu)

SNV
Germline

Chr12:112489069

Pathogenic

RASopathy
LEOPARD syndrome 1
Condition: not provided
Abnormal facial shape
Scoliosis
Intellectual disability, mild
Cafe-au-lait spot
Specific learning disability
Noonan syndrome 1
Noonan syndrome with multiple lentigines
Noonan syndrome
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA273434

rs_397507542

14 SubmittersRCV000033540 RCV000055886 RCV000212896 RCV000626828 RCV000494687 RCV000824748 RCV001813260

NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys)

SNV
Germline

Chr12:112489078

Pathogenic

Condition: not provided
Noonan syndrome
RASopathy
7 conditions
Noonan syndrome 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA261549

rs_397507543

11 SubmittersRCV000033541 RCV000037618 RCV000466382 RCV001800333 RCV002260947 RCV004018716

NM_002834.5(PTPN11):c.1504T>G (p.Ser502Ala)

SNV
Germline

Chr12:112489080

Pathogenic

Juvenile myelomonocytic leukemia
Noonan syndrome
Condition: not provided
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA273454

rs_121918458

7 SubmittersRCV000033542 RCV000212898 RCV001731329

NM_002834.5(PTPN11):c.1505C>T (p.Ser502Leu)

SNV
Germline

Chr12:112489081

Pathogenic

Condition: not provided
Noonan syndrome
RASopathy
Noonan syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA261552

rs_397507544

9 SubmittersRCV000033544 RCV000037619 RCV000781773 RCV002227049

NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)

SNV
Germline

Chr12:112489083

Pathogenic

RASopathy
Condition: not provided
LEOPARD syndrome 1
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
Noonan syndrome 1
Noonan syndrome
Juvenile myelomonocytic leukemia
Neurodevelopmental disorder
Cardiovascular phenotype
PTPN11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA273459

rs_397507545

18 SubmittersRCV000033545 RCV000210040 RCV000515165 RCV001028095 RCV000824750 RCV001374913 RCV002390131 RCV004532494

NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)

SNV
Germline

Chr12:112489083

Pathogenic

RASopathy
Condition: not provided
Noonan syndrome
Noonan syndrome 1
LEOPARD syndrome 1
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
Cardiovascular phenotype
Noonan syndrome
Juvenile myelomonocytic leukemia
LEOPARD syndrome 1
PTPN11-related disorder
Noonan syndrome and Noonan-related syndrome
Metachondromatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA220137

rs_397507545

21 SubmittersRCV000033546 RCV000077852 RCV000157015 RCV000660241 RCV000762886 RCV000618529 RCV000824749 RCV003147311 RCV004532495 RCV001813261 RCV003147310

NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu)

SNV
Germline

Chr12:112489084

Pathogenic/Likely pathogenic

Condition: not provided
LEOPARD syndrome 1
RASopathy
Noonan syndrome 1
LEOPARD syndrome 1
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
Metachondromatosis

Criteria Provided
Multiple Submitters
No Conflicts

CA282132

rs_397507546

8 SubmittersRCV000033548 RCV000677651 RCV000532971 RCV001330778 RCV002490448 RCV003450655

NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)

SNV
Germline

Chr12:112489086

Pathogenic

RASopathy
Condition: not provided
Noonan syndrome
LEOPARD syndrome 1
Noonan syndrome 1
Metachondromatosis
Noonan syndrome 1
LEOPARD syndrome 1
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
Cardiovascular phenotype
Male infertility with azoospermia or oligozoospermia due to single gene mutation
PTPN11-related disorder

Reviewed By Expert Panel

CA220140

rs_397507547

32 SubmittersRCV000033549 RCV000077853 RCV000156983 RCV001027841 RCV000677652 RCV000762887 RCV002390132 RCV003991572 RCV004532496

NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro)

SNV
Germline

Chr12:112489093

Pathogenic

RASopathy
LEOPARD syndrome 1
Condition: not provided
Noonan syndrome with multiple lentigines
Noonan syndrome
Cardiovascular phenotype
PTPN11-related disorder
Noonan syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA235331

rs_397507548

14 SubmittersRCV000033550 RCV000055887 RCV000157683 RCV000154371 RCV001849289 RCV002390133 RCV004541060 RCV004554638

NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu)

SNV
Germline

Chr12:112489104

Pathogenic

RASopathy
LEOPARD syndrome 1
Condition: not provided
Noonan syndrome 3
Cardiovascular phenotype
Noonan syndrome 1
Noonan syndrome
Noonan syndrome with multiple lentigines
See cases
PTPN11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA273420

rs_397507549

14 SubmittersRCV000033553 RCV000055888 RCV000210041 RCV000589512 RCV000619738 RCV000679882 RCV000824751 RCV002251945 RCV004545736

NM_002834.5(PTPN11):c.1530G>C (p.Gln510His)

SNV
Germline

Chr12:112489106

Pathogenic

Condition: not provided
RASopathy
Cardiovascular phenotype
Metachondromatosis
LEOPARD syndrome 1
PTPN11-related disorder
LEOPARD syndrome 1
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
Noonan syndrome 1

Reviewed By Expert Panel

CA220143

rs_397507550

12 SubmittersRCV000077854 RCV000521890 RCV002399355 RCV003147313 RCV003147314 RCV004532497 RCV002490449 RCV003147312

NM_002880.4(RAF1):c.-201C>A

SNV
Germline

Chr3:12663987

Conflicting classifications of pathogenicity

not specified
Noonan syndrome 5
LEOPARD syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA177687

rs_532668125

4 SubmittersRCV000151722 RCV001144428 RCV001144429 RCV001636612

NM_002880.4(RAF1):c.-27+7G>A

SNV
Germline

Chr3:12663806

Conflicting classifications of pathogenicity

Noonan syndrome 5
LEOPARD syndrome 2
Condition: not provided
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Conflicting Classifications

CA10602361

rs_886057916

3 SubmittersRCV000301764 RCV000408406 RCV001711219 RCV001813263

NM_002880.4(RAF1):c.122G>A (p.Arg41Gln)

SNV
Germline

Chr3:12618600

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
RASopathy
Condition: not provided
Primary familial dilated cardiomyopathy
Noonan syndrome 5
LEOPARD syndrome 2
Noonan syndrome and Noonan-related syndrome
Noonan syndrome
RAF1-related disorder

Criteria Provided
Conflicting Classifications

CA134693

rs_145611571

13 SubmittersRCV000037673 RCV000253580 RCV000463359 RCV000680304 RCV000624707 RCV001149006 RCV000987120 RCV001813264 RCV001261025 RCV004541062

NM_002880.4(RAF1):c.524A>G (p.His175Arg)

SNV
Germline

Chr3:12608823

Conflicting classifications of pathogenicity

Noonan syndrome
Condition: not provided
RASopathy
Noonan syndrome 5
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA261614

rs_397516822

7 SubmittersRCV000037693 RCV000788414 RCV001213204 RCV001254110 RCV003362668

NM_002880.4(RAF1):c.768G>T (p.Arg256Ser)

SNV
Germline

Chr3:12604202

Pathogenic

Noonan syndrome
Condition: not provided
RASopathy
Cardiovascular phenotype

Reviewed By Expert Panel

CA261625

rs_397516826

6 SubmittersRCV000037701 RCV000159072 RCV000523940 RCV004018717

NM_002880.4(RAF1):c.769T>C (p.Ser257Pro)

SNV
Germline/somatic

Chr3:12604201

Likely pathogenic

Noonan syndrome
Condition: not provided
Primary familial hypertrophic cardiomyopathy
Melanoma
RASopathy

Reviewed By Expert Panel

CA184835

rs_727505017

6 SubmittersRCV000156441 RCV000159073 RCV000208439 RCV000426760 RCV000520189

NM_002880.4(RAF1):c.775T>A (p.Ser259Thr)

SNV
Germline

Chr3:12604195

Pathogenic

Noonan syndrome
Condition: not provided
RASopathy
Noonan syndrome 1

Reviewed By Expert Panel

CA261617

rs_3730271

8 SubmittersRCV000037698 RCV000159074 RCV000522675 RCV003450656

NM_002880.4(RAF1):c.776C>G (p.Ser259Cys)

SNV
Germline

Chr3:12604194

Pathogenic/Likely pathogenic

Condition: not provided
RASopathy
Noonan syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA297115

rs_397516827

5 SubmittersRCV000159075 RCV000525018 RCV000850365

NM_002880.4(RAF1):c.776C>T (p.Ser259Phe)

SNV
Germline/somatic

Chr3:12604194

Pathogenic

RASopathy
Noonan syndrome
Noonan syndrome and Noonan-related syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA339739

rs_397516827

5 SubmittersRCV000204940 RCV000423120 RCV001813266 RCV002504857

NM_002880.4(RAF1):c.781C>A (p.Pro261Thr)

SNV
Germline

Chr3:12604189

Pathogenic/Likely pathogenic

Noonan syndrome
RASopathy
Noonan syndrome and Noonan-related syndrome
Noonan syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA250285

rs_121434594

6 SubmittersRCV000037703 RCV000149827 RCV001813267 RCV003150935

NM_002880.4(RAF1):c.781C>G (p.Pro261Ala)

SNV
Germline/somatic

Chr3:12604189

Pathogenic/Likely pathogenic

Noonan syndrome
Condition: not provided
Primary familial hypertrophic cardiomyopathy
LEOPARD syndrome 2
Dilated cardiomyopathy 1NN
Noonan syndrome 5
RASopathy
RAF1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA261626

rs_121434594

8 SubmittersRCV000211848 RCV000354359 RCV000208199 RCV000763094 RCV001217833 RCV004541063

NM_002880.4(RAF1):c.782C>G (p.Pro261Arg)

SNV
Germline

Chr3:12604188

Pathogenic/Likely pathogenic

Noonan syndrome
Condition: not provided
RASopathy
Noonan syndrome 5
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA134753

rs_397516828

8 SubmittersRCV000037706 RCV000159077 RCV000590070 RCV000277865 RCV001813268

NM_002880.4(RAF1):c.788T>G (p.Val263Gly)

SNV
Germline

Chr3:12604182

Likely pathogenic

Noonan syndrome
Condition: not provided
RASopathy
Noonan syndrome 1

Reviewed By Expert Panel

CA273745

rs_397516830

7 SubmittersRCV000037708 RCV000159078 RCV000523845 RCV003450657

NM_002880.4(RAF1):c.788T>C (p.Val263Ala)

SNV
Germline/somatic

Chr3:12604182

Pathogenic/Likely pathogenic

Noonan syndrome
Condition: not provided
RASopathy
Cardiovascular phenotype
Noonan syndrome 5
Hereditary breast ovarian cancer syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16602249

rs_397516830

6 SubmittersRCV000442596 RCV000680627 RCV000686662 RCV002408497 RCV003137555 RCV004525861

NM_002880.4(RAF1):c.917C>T (p.Ser306Leu)

SNV
Germline

Chr3:12600225

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
RASopathy
Noonan syndrome

Criteria Provided
Conflicting Classifications

CA10602363

rs_886041231

4 SubmittersRCV000275940 RCV003162288 RCV000820134 RCV001249756

NM_002880.4(RAF1):c.1082G>C (p.Gly361Ala)

SNV
Germline

Chr3:12599717

Pathogenic

Noonan syndrome
Condition: not provided
RASopathy
LEOPARD syndrome 2
Noonan syndrome 5

Reviewed By Expert Panel

CA134687

rs_397516813

8 SubmittersRCV000037671 RCV000159081 RCV000473341 RCV000987116 RCV001542563

NM_002880.4(RAF1):c.1279A>G (p.Ser427Gly)

SNV
Germline

Chr3:12590889

Pathogenic

Condition: not provided
Noonan syndrome and Noonan-related syndrome
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA297127

rs_730881002

3 SubmittersRCV000159084 RCV001813271 RCV001852678

NM_002880.4(RAF1):c.1423T>C (p.Phe475Leu)

SNV
Germline

Chr3:12585794

Pathogenic/Likely pathogenic

Condition: not provided
Noonan syndrome
Dilated cardiomyopathy 1NN
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA297130

rs_730881003

5 SubmittersRCV000159085 RCV000602545 RCV003444149 RCV001852679

NM_002880.4(RAF1):c.1457A>G (p.Asp486Gly)

SNV
Germline

Chr3:12585760

Pathogenic/Likely pathogenic

Noonan syndrome
Condition: not provided
RASopathy
RAF1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA261610

rs_397516815

5 SubmittersRCV000037675 RCV000434022 RCV000555975 RCV004554639

NM_007373.4(SHOC2):c.-159T>C

SNV
Germline

Chr10:110964200

Conflicting classifications of pathogenicity

not specified
Noonan syndrome-like disorder with loose anagen hair 1
Condition: not provided
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Conflicting Classifications

CA177984

rs_72819758

4 SubmittersRCV000151876 RCV000363754 RCV001636613 RCV001813275

NM_007373.4(SHOC2):c.-114C>G

SNV
Germline

Chr10:110964245

Conflicting classifications of pathogenicity

Noonan syndrome-like disorder with loose anagen hair 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1057217316

2 SubmittersRCV001103681 RCV001636614

NM_007373.4(SHOC2):c.74A>G (p.Glu25Gly)

SNV
Germline

Chr10:110964432

Conflicting classifications of pathogenicity

not specified
Condition: not provided
RASopathy
Noonan syndrome
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
Noonan syndrome-like disorder with loose anagen hair 1

Criteria Provided
Conflicting Classifications

CA297172

rs_730881019

8 SubmittersRCV000159109 RCV000766822 RCV000799563 RCV001261147 RCV001813276 RCV002390134 RCV001004912

NM_005633.4(SOS1):c.233T>G (p.Phe78Cys)

SNV
Germline

Chr2:39058785

Conflicting classifications of pathogenicity

RASopathy
Condition: not provided
Noonan syndrome 1
Ventricular tachycardia
Intellectual disability
Cardiovascular phenotype
SOS1-related disorder

Criteria Provided
Conflicting Classifications

CA297244

rs_201352584

9 SubmittersRCV000460292 RCV000514749 RCV000986626 RCV000852537 RCV001281498 RCV002444455 RCV003407394

NM_005633.4(SOS1):c.253T>C (p.Trp85Arg)

SNV
Germline

Chr2:39058765

Pathogenic

RASopathy
Noonan syndrome

Criteria Provided
Single Submitter

CA346373979

rs_730881054

2 SubmittersRCV000545153 RCV001261068

NM_005633.4(SOS1):c.322G>A (p.Glu108Lys)

SNV
Germline

Chr2:39058696

Pathogenic

Noonan syndrome
Condition: not provided
RASopathy
Noonan syndrome and Noonan-related syndrome

Reviewed By Expert Panel

CA261739

rs_397517164

6 SubmittersRCV000038546 RCV000159144 RCV000537356 RCV001813280

NM_005633.4(SOS1):c.508A>G (p.Lys170Glu)

SNV
Germline

Chr2:39056704

Pathogenic

Noonan syndrome
Condition: not provided
RASopathy
not specified
Neonatal hypotonia
Noonan syndrome 4
SOS1-related disorder
Cardiovascular phenotype

Reviewed By Expert Panel

CA235342

rs_397517172

19 SubmittersRCV000038560 RCV000157689 RCV000476014 RCV001002150 RCV001526618 RCV001729357 RCV003914900 RCV002345263

NM_005633.4(SOS1):c.512T>G (p.Val171Gly)

SNV
Germline

Chr2:39054822

Conflicting classifications of pathogenicity

not specified
RASopathy
Inborn genetic diseases
Noonan syndrome 4

Criteria Provided
Conflicting Classifications

CA136165

rs_397517174

4 SubmittersRCV000038563 RCV000466303 RCV000624181 RCV004018718

NM_005633.4(SOS1):c.571G>A (p.Glu191Lys)

SNV
Germline

Chr2:39054763

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome
not specified
Fibromatosis, gingival, 1
Noonan syndrome 4
RASopathy
Primary dilated cardiomyopathy

Criteria Provided
Conflicting Classifications

CA10602366

rs_886041241

9 SubmittersRCV000293469 RCV000761106 RCV002247417 RCV002467503 RCV002467504 RCV001069595 RCV001543363

NM_005633.4(SOS1):c.806T>C (p.Met269Thr)

SNV
Germline

Chr2:39051202

Pathogenic

Condition: not provided
Noonan syndrome
Noonan syndrome 4
RASopathy
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
Noonan syndrome 1

Reviewed By Expert Panel

CA235344

rs_137852813

17 SubmittersRCV000157690 RCV000208414 RCV000487454 RCV000539275 RCV001813283 RCV002415451 RCV003150936

NM_005633.4(SOS1):c.1269C>G (p.Asn423Lys)

SNV
Germline

Chr2:39023159

Conflicting classifications of pathogenicity

Condition: not provided
RASopathy
not specified
Fibromatosis, gingival, 1
Noonan syndrome 4
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA297301

rs_138459502

5 SubmittersRCV000159188 RCV000556655 RCV001192794 RCV002467507 RCV002467508 RCV002444456

NM_005633.4(SOS1):c.1297G>A (p.Glu433Lys)

SNV
Germline

Chr2:39023131

Pathogenic

Noonan syndrome
Condition: not provided
RASopathy
Noonan syndrome 4
Noonan syndrome 1
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA235348

rs_397517147

7 SubmittersRCV000038513 RCV000157692 RCV000467110 RCV002467509 RCV003450658 RCV001813285

NM_005633.4(SOS1):c.1300G>C (p.Gly434Arg)

SNV
Germline

Chr2:39023128

Pathogenic

not specified
RASopathy
Noonan syndrome 4
Fibromatosis, gingival, 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_397517148

5 SubmittersRCV001002596 RCV001217212 RCV002467510 RCV003460541 RCV001508984

NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg)

SNV
Germline

Chr2:39023128

Pathogenic/Likely pathogenic

Noonan syndrome
Pulmonic stenosis
Ptosis
Abnormal sternum morphology
Short stature
RASopathy
Noonan syndrome 1
Condition: not provided
Fetal cystic hygroma
Noonan syndrome and Noonan-related syndrome
Fibromatosis, gingival, 1
Noonan syndrome 4
Cardiovascular phenotype
Noonan syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA261717

rs_397517148

12 SubmittersRCV000038514 RCV000626886 RCV000781878 RCV000856735 RCV000788323 RCV001526663 RCV001813286 RCV002054543 RCV002381284 RCV001270835

NM_005633.4(SOS1):c.1322G>A (p.Cys441Tyr)

SNV
Germline

Chr2:39023106

Pathogenic

Condition: not provided
Noonan syndrome
RASopathy
Noonan syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA273441

rs_727504295

7 SubmittersRCV000159166 RCV000154314 RCV000534974 RCV002467511

NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg)

SNV
Germline

Chr2:39022786

Pathogenic

Noonan syndrome
Condition: not provided
RASopathy
Inborn genetic diseases
Noonan syndrome 4
Fibromatosis, gingival, 1
Noonan syndrome 4
Noonan syndrome and Noonan-related syndrome
Noonan syndrome 1

Reviewed By Expert Panel

CA234977

rs_397517149

12 SubmittersRCV000038515 RCV000153986 RCV000654915 RCV000623399 RCV000763087 RCV002054544 RCV001813287 RCV003450659

NM_005633.4(SOS1):c.1644T>A (p.Ser548Arg)

SNV
Germline

Chr2:39022784

Pathogenic

Condition: not provided
RASopathy
Noonan syndrome
Noonan syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA297272

rs_730881045

5 SubmittersRCV000159171 RCV001381689 RCV001261087 RCV002467514

NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro)

SNV
Germline

Chr2:39022779

Pathogenic

Noonan syndrome
Condition: not provided
RASopathy
Noonan syndrome 4
SOS1-related disorder
Noonan syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA261724

rs_397517153

10 SubmittersRCV000038520 RCV000159172 RCV000550001 RCV002467515 RCV003398589 RCV003150937

NM_005633.4(SOS1):c.1655G>T (p.Arg552Met)

SNV
Germline

Chr2:39022773

Likely pathogenic

RASopathy
Condition: not provided
Noonan syndrome and Noonan-related syndrome
Noonan syndrome

Reviewed By Expert Panel

CA16616762

rs_397517154

5 SubmittersRCV000685882 RCV000484403 RCV000787996 RCV004017276

NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr)

SNV
Germline

Chr2:39022773

Pathogenic

Condition: not provided
Noonan syndrome
RASopathy
Abnormal aortic valve morphology
Noonan syndrome 4
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
SOS1-related disorder
Noonan syndrome 1

Reviewed By Expert Panel

CA261728

rs_397517154

14 SubmittersRCV000159176 RCV000208093 RCV000528274 RCV000626887 RCV001507015 RCV001813288 RCV002399361 RCV003390718 RCV003450660

NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys)

SNV
Germline

Chr2:39022773

Pathogenic

Condition: not provided
Noonan syndrome
Noonan syndrome 3
Noonan syndrome 4
Noonan syndrome 1
Fibromatosis, gingival, 1
RASopathy

Reviewed By Expert Panel

CA261726

rs_397517154

16 SubmittersRCV000159175 RCV000157017 RCV000587705 RCV001169984 RCV000856745 RCV001335308 RCV001062868

NM_005633.4(SOS1):c.1656G>T (p.Arg552Ser)

SNV
Germline

Chr2:39022772

Pathogenic

Noonan syndrome
Condition: not provided
RASopathy
Fibromatosis, gingival, 1
Noonan syndrome 4
Noonan syndrome and Noonan-related syndrome
See cases
Noonan syndrome 4
Cardiovascular phenotype

Reviewed By Expert Panel

CA261730

rs_267607079

12 SubmittersRCV000038525 RCV000213008 RCV000149832 RCV000515298 RCV000787997 RCV003128391 RCV002250500 RCV002399362

NM_005633.4(SOS1):c.2104T>C (p.Tyr702His)

SNV
Germline

Chr2:39013523

Pathogenic

Noonan syndrome
Condition: not provided
RASopathy
Noonan syndrome 4
Fibromatosis, gingival, 1
Noonan syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA273696

rs_727505381

6 SubmittersRCV000156979 RCV000159124 RCV000817385 RCV002496502 RCV002467518

NM_005633.4(SOS1):c.2183A>T (p.Lys728Ile)

SNV
Germline

Chr2:39012333

Pathogenic/Likely pathogenic

Noonan syndrome
Noonan syndrome 4
Condition: not provided
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA261731

rs_397517156

5 SubmittersRCV000038531 RCV000495874 RCV000159126 RCV001045366

NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe)

SNV
Germline

Chr2:39012319

Pathogenic/Likely pathogenic

Condition: not provided
Noonan syndrome 3
RASopathy
Noonan syndrome 4
SOS1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA297205

rs_574088829

7 SubmittersRCV000159127 RCV000587797 RCV001233419 RCV002051800 RCV003407395

NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys)

SNV
Germline

Chr2:39007168

Pathogenic

Noonan syndrome
Condition: not provided
RASopathy
Fibromatosis, gingival, 1
Noonan syndrome 4
Cardiovascular phenotype
SOS1-related disorder
Noonan syndrome and Noonan-related syndrome

Reviewed By Expert Panel

CA261734

rs_397517159

13 SubmittersRCV000038535 RCV000207492 RCV000471633 RCV000763085 RCV002453285 RCV003421942 RCV001813296

NM_005633.4(SOS1):c.3269C>T (p.Pro1090Leu)

SNV
Germline

Chr2:38995200

Conflicting classifications of pathogenicity

not specified
RASopathy
Condition: not provided
Fibromatosis, gingival, 1
Noonan syndrome 4
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA205476

rs_730881034

8 SubmittersRCV000192568 RCV000819933 RCV000997119 RCV001143048 RCV001143049 RCV002444457

NM_005633.4(SOS1):c.3418T>A (p.Leu1140Ile)

SNV
Germline

Chr2:38987565

Conflicting classifications of pathogenicity

Noonan syndrome 4
not specified
Condition: not provided
Cardiovascular phenotype
RASopathy

Criteria Provided
Conflicting Classifications

CA1624178

rs_375550588

6 SubmittersRCV000577966 RCV000592644 RCV001588841 RCV002453287 RCV000463473

NM_005633.4(SOS1):c.3524A>C (p.His1175Pro)

SNV
Germline

Chr2:38986302

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Fibromatosis, gingival, 1
Condition: not provided
RASopathy
Fibromatosis, gingival, 1
Noonan syndrome 4
Noonan syndrome 4

Criteria Provided
Conflicting Classifications

CA297237

rs_730881035

6 SubmittersRCV002453288 RCV002467527 RCV000589150 RCV001230717 RCV002477050 RCV002467528

NM_005633.4(SOS1):c.3729C>G (p.Asp1243Glu)

SNV
Germline

Chr2:38986097

Conflicting classifications of pathogenicity

not specified
Noonan syndrome and Noonan-related syndrome
RASopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA297196

rs_730881026

5 SubmittersRCV000159118 RCV001813302 RCV000231740 RCV001703448 RCV002345265

NM_002755.4(MAP2K1):c.343C>G (p.Leu115Val)

SNV
Germline

Chr15:66436797

Conflicting classifications of pathogenicity

Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA392930543

rs_1428775799

2 SubmittersRCV001813305 RCV004018722

NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu)

SNV
Germline/somatic

Chr15:66436825

Pathogenic/Likely pathogenic

Cardio-facio-cutaneous syndrome
Neoplasm of the large intestine
Melanoma
Malignant melanoma of skin
Malignant neoplasm of body of uterus
Transitional cell carcinoma of the bladder
Condition: not provided
Cardiofaciocutaneous syndrome 3
RASopathy
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA279996

rs_397516792

11 SubmittersRCV000037595 RCV000424633 RCV000436322 RCV000417448 RCV000425638 RCV000435315 RCV000680623 RCV001542689 RCV002513329 RCV001813306

NM_030662.4(MAP2K2):c.274A>G (p.Arg92Gly)

SNV
Germline

Chr19:4117448

Conflicting classifications of pathogenicity

not specified
RASopathy
Neurofibromatosis-Noonan syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9091063

rs_759061964

6 SubmittersRCV000413006 RCV001063339 RCV000824945 RCV003153319 RCV003162290

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_030662.4(MAP2K2):c.619G>A (p.Glu207Lys)

SNV
Germline

Chr19:4101105

Likely pathogenic

RASopathy
Condition: not provided
Cardio-facio-cutaneous syndrome
Noonan syndrome
Cardio-facio-cutaneous syndrome

Reviewed By Expert Panel

CA180944

rs_727504382

8 SubmittersRCV000158024 RCV000254662 RCV000524055 RCV000844675

NM_030662.4(MAP2K2):c.853G>A (p.Asp285Asn)

SNV
Germline

Chr19:4099267

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Noonan syndrome
RASopathy

Criteria Provided
Conflicting Classifications

CA296142

rs_150369301

6 SubmittersRCV000158029 RCV000680294 RCV001261064 RCV001480813

NM_004333.6(BRAF):c.1801A>C (p.Lys601Gln)

SNV
Germline

Chr7:140753334

Pathogenic

Condition: not provided
Noonan syndrome
Cardio-facio-cutaneous syndrome
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA215454

rs_121913364

4 SubmittersRCV000034332 RCV000150201 RCV003539770

NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser)

SNV
Germline

Chr17:31229200

Conflicting classifications of pathogenicity

Condition: not provided
Neurofibromatosis, type 1
Hereditary cancer-predisposing syndrome
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA215735

rs_200302954

13 SubmittersRCV000034582 RCV000200298 RCV000222839 RCV000765346 RCV002426541

NM_001042492.3(NF1):c.528T>A (p.Asp176Glu)

SNV
Germline

Chr17:31169939

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal

Criteria Provided
Conflicting Classifications

CA161065

rs_112306990

23 SubmittersRCV000034585 RCV000121638 RCV000129680 RCV000199175 RCV000264802 RCV000323382 RCV000268253

NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu)

SNV
Germline

Chr17:31340512

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
NF1-related disorder

Criteria Provided
Conflicting Classifications

CA164285

rs_148736217

12 SubmittersRCV000034587 RCV000129366 RCV000214790 RCV001122581 RCV001082296 RCV001122582 RCV002362613 RCV001122580 RCV003233080 RCV004549402

NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe)

SNV
Germline

Chr17:31358614

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Juvenile myelomonocytic leukemia
Neurofibromatosis, familial spinal
not specified
Neurofibromatosis, type 1
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
NF1-related disorder

Criteria Provided
Conflicting Classifications

CA166986

rs_201824349

9 SubmittersRCV000034591 RCV000130727 RCV000515212 RCV000501885 RCV001079427 RCV002415459 RCV004549403

NM_001042492.3(NF1):c.847G>T (p.Asp283Tyr)

SNV
Germline

Chr17:31182624

Conflicting classifications of pathogenicity

Condition: not provided
Neurofibromatosis, type 1
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Juvenile myelomonocytic leukemia
Neurofibromatosis, familial spinal
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA165606

rs_200572531

8 SubmittersRCV000034592 RCV000205213 RCV001027794 RCV002490460 RCV004558288

NM_002755.4(MAP2K1):c.275T>G (p.Leu92Arg)

SNV
Germline

Chr15:66435221

Likely pathogenic

Condition: not provided
Cardio-facio-cutaneous syndrome
Noonan syndrome and Noonan-related syndrome

Reviewed By Expert Panel

CA134601

rs_397516791

5 SubmittersRCV000158005 RCV000522848 RCV001813322

NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg)

SNV
Germline

Chr12:112450389

Pathogenic

Noonan syndrome
RASopathy
Condition: not provided
LEOPARD syndrome 1
Noonan syndrome 1

Reviewed By Expert Panel

CA261568

rs_397516801

9 SubmittersRCV000037634 RCV000206837 RCV000405696 RCV002464090 RCV003313932

NM_002834.5(PTPN11):c.235C>A (p.Gln79Lys)

SNV
Germline

Chr12:112450415

Likely pathogenic

Noonan syndrome
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA261581

rs_397516803

2 SubmittersRCV000037640 RCV003764672

NM_002834.5(PTPN11):c.556C>T (p.Arg186Trp)

SNV
Germline

Chr12:112454594

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Noonan syndrome and Noonan-related syndrome
RASopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA134673

rs_143433437

7 SubmittersRCV000037651 RCV001569121 RCV001813330 RCV001852783 RCV002345295

NM_002834.5(PTPN11):c.774G>T (p.Glu258Asp)

SNV
Germline

Chr12:112472961

Pathogenic/Likely pathogenic

Noonan syndrome
Condition: not provided
not specified

Criteria Provided
Multiple Submitters
No Conflicts

CA261591

rs_397516809

3 SubmittersRCV000037656 RCV000159049 RCV001002142

NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser)

SNV
Germline

Chr12:112472989

Pathogenic/Likely pathogenic

Noonan syndrome
Condition: not provided
RASopathy
LEOPARD syndrome 1
Noonan syndrome 1
Juvenile myelomonocytic leukemia
LEOPARD syndrome 1
Metachondromatosis
Noonan syndrome 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA261594

rs_397507527

13 SubmittersRCV000037659 RCV000159050 RCV000587886 RCV001330780 RCV002504894 RCV003338391 RCV002415470

NM_002834.5(PTPN11):c.855T>G (p.Phe285Leu)

SNV
Germline

Chr12:112477652

Pathogenic

Noonan syndrome
Condition: not provided
Noonan syndrome 3
RASopathy
Noonan syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA261606

rs_397516810

5 SubmittersRCV000037665 RCV000159052 RCV000587757 RCV000687570 RCV002288537

NM_002880.4(RAF1):c.766A>G (p.Arg256Gly)

SNV
Germline

Chr3:12604204

Pathogenic/Likely pathogenic

Noonan syndrome
RASopathy
Condition: not provided
Noonan syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA261620

rs_397516825

5 SubmittersRCV000037699 RCV000550843 RCV002227051 RCV003450729

NM_002880.4(RAF1):c.768G>C (p.Arg256Ser)

SNV
Germline

Chr3:12604202

Pathogenic/Likely pathogenic

Noonan syndrome
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA261623

rs_397516826

2 SubmittersRCV000037700 RCV001852785

NM_002880.4(RAF1):c.776C>A (p.Ser259Tyr)

SNV
Germline

Chr3:12604194

Pathogenic

not specified
LEOPARD syndrome 2
Noonan syndrome
Condition: not provided
RASopathy

Reviewed By Expert Panel

CA134750

rs_397516827

5 SubmittersRCV000037702 RCV000987117 RCV001261032 RCV001843945 RCV001250389

NM_002880.4(RAF1):c.786T>A (p.Asn262Lys)

SNV
Germline

Chr3:12604184

Pathogenic

Noonan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA261628

rs_397516829

3 SubmittersRCV000037707 RCV000388842

NM_001374258.1(BRAF):c.1529C>G (p.Thr510Arg)

SNV
Germline

Chr7:140781599

Likely pathogenic

Noonan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA261657

rs_397516891

3 SubmittersRCV000037920 RCV000681421

NM_004333.6(BRAF):c.1694+14G>A

SNV
Germline

Chr7:140776898

Conflicting classifications of pathogenicity

not specified
Noonan syndrome 7
LEOPARD syndrome 3
RASopathy

Criteria Provided
Conflicting Classifications

CA135091

rs_184144181

5 SubmittersRCV000037926 RCV000321913 RCV000263036 RCV002054681

NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys)

SNV
Germline

Chr7:140753392

Pathogenic/Likely pathogenic

Cardio-facio-cutaneous syndrome
Condition: not provided
Cardiofaciocutaneous syndrome 1
Lung carcinoma
Noonan syndrome 1
LEOPARD syndrome 3
Noonan syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA280022

rs_397516895

3 SubmittersRCV000037929 RCV000524048 RCV000763165

NM_004333.6(BRAF):c.1786G>T (p.Gly596Cys)

SNV
Germline

Chr7:140753349

Conflicting classifications of pathogenicity

not specified
Noonan syndrome and Noonan-related syndrome
RASopathy

Criteria Provided
Conflicting Classifications

CA135098

rs_121913361

3 SubmittersRCV000037933 RCV001813335 RCV002513489

NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr)

SNV
Germline/somatic

Chr7:140753333

Pathogenic

Cardio-facio-cutaneous syndrome
Noonan syndrome
Gastric adenocarcinoma
Prostate adenocarcinoma
Malignant neoplasm of body of uterus
B-cell chronic lymphocytic leukemia
Thyroid tumor
Lung adenocarcinoma
Malignant melanoma of skin
Cardiofaciocutaneous syndrome 1
RASopathy

Criteria Provided
Single Submitter

CA261660

rs_397507484

4 SubmittersRCV000037939 RCV000420107 RCV000431024 RCV000444564 RCV000417689 RCV000434946 RCV000425098 RCV000438200 RCV000999627 RCV003539772

NM_004333.6(BRAF):c.722C>A (p.Thr241Lys)

SNV
Germline

Chr7:140801550

Pathogenic

Noonan syndrome
RASopathy

Reviewed By Expert Panel

CA261663

rs_387906660

3 SubmittersRCV000037953 RCV000807047

NM_004333.6(BRAF):c.739T>G (p.Phe247Val)

SNV
Germline

Chr7:140801533

Likely pathogenic

not specified
Condition: not provided
Noonan syndrome and Noonan-related syndrome
Noonan syndrome
Cardio-facio-cutaneous syndrome
RASopathy

Reviewed By Expert Panel

CA135140

rs_397516903

6 SubmittersRCV000037958 RCV000339233 RCV000788008 RCV000824912 RCV002513490

NM_004333.6(BRAF):c.785A>C (p.Gln262Pro)

SNV
Germline

Chr7:140801487

Pathogenic/Likely pathogenic

Condition: not provided
Cardio-facio-cutaneous syndrome
Noonan syndrome
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA280033

rs_397516904

5 SubmittersRCV000392102 RCV000208128 RCV000824915 RCV001852795

NM_004333.6(BRAF):c.793G>C (p.Gly265Arg)

SNV
Germline

Chr7:140801479

Likely pathogenic

Noonan syndrome
RASopathy

Reviewed By Expert Panel

CA261666

rs_397516905

4 SubmittersRCV000037962 RCV000736078

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.198A>G (p.Ala66=)

SNV
Germline

Chr12:25227326

Conflicting classifications of pathogenicity

not specified
Noonan syndrome
RASopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA135555

rs_200229810

6 SubmittersRCV000038260 RCV000306687 RCV001089083 RCV001682733

NM_004985.5(KRAS):c.454G>T (p.Val152Phe)

SNV
Germline

Chr12:25209908

Likely pathogenic

Noonan syndrome

Criteria Provided
Single Submitter

CA261705

rs_397517041

1 SubmittersRCV000038273

NM_004985.5(KRAS):c.466T>G (p.Phe156Val)

SNV
Germline

Chr12:25209896

Pathogenic/Likely pathogenic

Noonan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA261709

rs_397517042

2 SubmittersRCV000038275 RCV000157941

NM_005188.4(CBL):c.1096-1G>C

SNV
Germline/somatic

Chr11:119278165

Pathogenic/Likely pathogenic

Noonan syndrome
Inborn genetic diseases
RASopathy
Juvenile myelomonocytic leukemia
CBL-related disorder
Condition: not provided
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

Criteria Provided
Multiple Submitters
No Conflicts

CA135696

rs_397517076

6 SubmittersRCV000038346 RCV000624342 RCV001852803 RCV002482996 RCV001789707 RCV001270818

NM_005633.4(SOS1):c.1132A>G (p.Thr378Ala)

SNV
Germline

Chr2:39024080

Pathogenic/Likely pathogenic

Noonan syndrome
Condition: not provided
RASopathy
Cardiovascular phenotype
Noonan syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA261714

rs_397517146

5 SubmittersRCV000038510 RCV000482668 RCV000821113 RCV002321513 RCV002467539

NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr)

SNV
Germline

Chr2:39023118

Pathogenic/Likely pathogenic

Noonan syndrome
Condition: not provided
RASopathy
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
Noonan syndrome 4
Male subfertility
Fibromatosis, gingival, 1
Noonan syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA261719

rs_397517150

14 SubmittersRCV000038516 RCV000159164 RCV000474085 RCV001813354 RCV002381310 RCV002467540 RCV003991573 RCV003224124

NM_005633.4(SOS1):c.244A>G (p.Ile82Val)

SNV
Germline

Chr2:39058774

Conflicting classifications of pathogenicity

not specified
RASopathy
Condition: not provided
Noonan syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA136101

rs_397517157

5 SubmittersRCV000038533 RCV000541335 RCV000680318 RCV001261067 RCV002444485

NM_005633.4(SOS1):c.2966G>A (p.Arg989Lys)

SNV
Germline

Chr2:38997037

Conflicting classifications of pathogenicity

not specified
RASopathy
Condition: not provided
Fibromatosis, gingival, 1
Noonan syndrome 4
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA136120

rs_202043599

7 SubmittersRCV000038541 RCV000654932 RCV000586941 RCV001143052 RCV001138300 RCV002433506

NM_005633.4(SOS1):c.3022T>C (p.Tyr1008His)

SNV
Germline

Chr2:38996981

Likely pathogenic

Noonan syndrome

Criteria Provided
Single Submitter

CA261736

rs_397517163

1 SubmittersRCV000038544

NM_005633.4(SOS1):c.335C>G (p.Pro112Arg)

SNV
Germline

Chr2:39058683

Likely pathogenic

Noonan syndrome

Criteria Provided
Single Submitter

CA261741

rs_397517166

1 SubmittersRCV000038549

NM_005633.4(SOS1):c.3600C>A (p.Asp1200Glu)

SNV
Germline

Chr2:38986226

Conflicting classifications of pathogenicity

not specified
Noonan syndrome 4
RASopathy

Criteria Provided
Conflicting Classifications

CA136143

rs_141594736

3 SubmittersRCV000038553 RCV002272040 RCV003539774

NM_005633.4(SOS1):c.512T>C (p.Val171Ala)

SNV
Germline

Chr2:39054822

Likely pathogenic

Noonan syndrome
Noonan syndrome and Noonan-related syndrome
Condition: not provided

Reviewed By Expert Panel

CA261743

rs_397517174

3 SubmittersRCV000038562 RCV000788003 RCV001781357

NM_005633.4(SOS1):c.925G>T (p.Asp309Tyr)

SNV
Germline

Chr2:39035440

Pathogenic

Noonan syndrome
Condition: not provided
RASopathy
Noonan syndrome and Noonan-related syndrome
Noonan syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA261746

rs_397517180

7 SubmittersRCV000038575 RCV000255002 RCV001852808 RCV001813362 RCV002255093

NM_005633.4(SOS1):c.929G>A (p.Arg310His)

SNV
Germline

Chr2:39035436

Conflicting classifications of pathogenicity

not specified
Noonan syndrome 4
Fibromatosis, gingival, 1
RASopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA136190

rs_143481916

5 SubmittersRCV000038577 RCV000349172 RCV000394772 RCV001366413 RCV001567493 RCV002371837

NM_152594.3(SPRED1):c.124G>A (p.Val42Ile)

SNV
Germline

Chr15:38299464

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Legius syndrome
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA142270

rs_147204964

6 SubmittersRCV000041238 RCV000586558 RCV001086208 RCV001813367 RCV002399395

NM_004333.6(BRAF):c.741T>G (p.Phe247Leu)

SNV
Germline

Chr7:140801531

Pathogenic

Condition: not provided
Noonan syndrome and Noonan-related syndrome
Noonan syndrome
RASopathy

Reviewed By Expert Panel

CA284654

rs_397509343

5 SubmittersRCV000049222 RCV000788009 RCV000824914 RCV001384671

NM_002834.5(PTPN11):c.179G>T (p.Gly60Val)

SNV
Germline

Chr12:112450359

Pathogenic/Likely pathogenic

Condition: not provided
Noonan syndrome 1
Noonan syndrome and Noonan-related syndrome
See cases
RASopathy
Noonan syndrome 1
LEOPARD syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA284662

rs_397507509

9 SubmittersRCV000049228 RCV000414941 RCV001813372 RCV002287357 RCV002513672 RCV003224860

NM_006912.6(RIT1):c.170C>G (p.Ala57Gly)

SNV
Germline

Chr1:155904798

Pathogenic

Noonan syndrome 8
Condition: not provided
Noonan syndrome
Noonan syndrome 1
RASopathy
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
RIT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA144537

rs_672601334

20 SubmittersRCV000054404 RCV000159100 RCV000207349 RCV000856747 RCV001731346 RCV001813373 RCV002399414 RCV003390753

NM_006912.6(RIT1):c.284G>C (p.Gly95Ala)

SNV
Germline

Chr1:155904456

Pathogenic

Noonan syndrome 8
Noonan syndrome
Condition: not provided
RASopathy
Noonan syndrome and Noonan-related syndrome
RIT1-related disorder
Cardiovascular phenotype
Noonan syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA144538

rs_672601335

22 SubmittersRCV000054407 RCV000207348 RCV000298790 RCV001192384 RCV001813374 RCV003915017 RCV002433549 RCV003450918

NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)

SNV
Germline

Chr17:31225134

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Tibial pseudarthrosis
Neurofibromatosis, type 1
Neurofibromatosis, type 1
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, type 1
NF1-related disorder
Gastric cancer

Criteria Provided
Conflicting Classifications

CA165914

rs_199474738

18 SubmittersRCV000059160 RCV000130191 RCV000506837 RCV001009575 RCV000206280 RCV001535533 RCV004549489 RCV003162463

NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)

SNV
Germline

Chr17:31229155

Pathogenic/Likely pathogenic

Condition: not provided
Neurofibromatosis, type 1
not specified
Hereditary cancer-predisposing syndrome
Atypical coarctation of aorta
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Gastric cancer
Juvenile myelomonocytic leukemia

Criteria Provided
Multiple Submitters
No Conflicts

CA219477

rs_199474747

19 SubmittersRCV000059175 RCV000205919 RCV000507716 RCV000492608 RCV000845192 RCV002054910 RCV002453378 RCV003162464 RCV003460651

NM_001042492.3(NF1):c.2543G>A (p.Gly848Glu)

SNV
Germline

Chr17:31229158

Pathogenic

Condition: not provided
Neurofibromatosis, type 1
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA219481

rs_199474748

5 SubmittersRCV000059176 RCV000687480 RCV002490663

NM_001042492.3(NF1):c.2693T>C (p.Leu898Pro)

SNV
Germline

Chr17:31229308

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Juvenile myelomonocytic leukemia

Criteria Provided
Multiple Submitters
No Conflicts

CA165101

rs_199474786

8 SubmittersRCV000059178 RCV000129792 RCV000823359 RCV002477208

NM_001042492.3(NF1):c.3610C>T (p.Arg1204Trp)

SNV
Germline

Chr17:31233115

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA219534

rs_199474732

6 SubmittersRCV000059190 RCV002318950 RCV003338403 RCV000696613

NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln)

SNV
Germline

Chr17:31235729

Pathogenic

Condition: not provided
Neurofibromatosis, type 1
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, type 1
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis-Noonan syndrome
Juvenile myelomonocytic leukemia
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA219546

rs_137854556

22 SubmittersRCV000059193 RCV000213660 RCV000824729 RCV002318951 RCV000762988 RCV002470752

NM_006767.4(LZTR1):c.264-13G>A

SNV
Germline

Chr22:20985828

Conflicting classifications of pathogenicity

Schwannomatosis 2
Condition: not provided
RASopathy
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Developmental disorder
Noonan syndrome 2
Schwannomatosis 2
Noonan syndrome 10

Criteria Provided
Conflicting Classifications

CA150700

rs_587777176

12 SubmittersRCV000087292 RCV001291541 RCV001192873 RCV002426650 RCV003126498 RCV002498472

NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln)

SNV
Germline

Chr22:20993967

Likely pathogenic

Schwannomatosis 2
Schwannomatosis
Noonan syndrome and Noonan-related syndrome
Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA150704

rs_587777180

8 SubmittersRCV000087296 RCV001260384 RCV001813376 RCV001312780 RCV002390252

NM_002880.4(RAF1):c.782C>T (p.Pro261Leu)

SNV
Germline/somatic

Chr3:12604188

Pathogenic/Likely pathogenic

Noonan syndrome 5
Noonan syndrome
Condition: not provided
RASopathy
Dilated cardiomyopathy 1NN
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA267618

rs_397516828

7 SubmittersRCV000106325 RCV000211850 RCV000519236 RCV001221447 RCV001542564 RCV004019594

NM_005633.4(SOS1):c.2138G>A (p.Arg713Gln)

SNV
Germline

Chr2:39013489

Conflicting classifications of pathogenicity

Noonan syndrome 4
Condition: not provided
RASopathy
Fibromatosis, gingival, 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA267620

rs_483352826

5 SubmittersRCV000106329 RCV000414070 RCV001344369 RCV002467565 RCV004019595

NM_006912.6(RIT1):c.270G>A (p.Met90Ile)

SNV
Germline

Chr1:155904470

Pathogenic/Likely pathogenic

Noonan syndrome 8
Noonan syndrome
Condition: not provided
Noonan syndrome and Noonan-related syndrome
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA150798

rs_483352822

9 SubmittersRCV000106331 RCV000220792 RCV000301748 RCV001813378 RCV001844039

NM_004333.6(BRAF):c.72G>C (p.Glu24Asp)

SNV
Germline

Chr7:140924632

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Noonan syndrome 7
LEOPARD syndrome 3
RASopathy

Criteria Provided
Conflicting Classifications

CA157471

rs_587778114

5 SubmittersRCV000120256 RCV000680282 RCV001160945 RCV001160944 RCV001222521

NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe)

SNV
Germline

Chr17:31225243

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Condition: not provided
Neurofibromatosis, familial spinal
Café-au-lait macules with pulmonary stenosis
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA161015

rs_145891889

19 SubmittersRCV000121628 RCV000129662 RCV000200171 RCV001124836 RCV000587577 RCV001124835 RCV001124837 RCV004558311

NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser)

SNV
Germline

Chr17:31225143

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
not specified
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA161025

rs_370789267

10 SubmittersRCV000220588 RCV000234708 RCV000121630 RCV002483222 RCV000712402 RCV004558312

NM_030662.4(MAP2K2):c.1005C>T (p.Asn335=)

SNV
Germline

Chr19:4095429

Conflicting classifications of pathogenicity

not specified
Cardiovascular phenotype
RASopathy
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Conflicting Classifications

CA292000

rs_587781028

4 SubmittersRCV000126679 RCV002408633 RCV003654206 RCV001813387

NM_002524.5(NRAS):c.112-8A>G

SNV
Germline

Chr1:114713986

Conflicting classifications of pathogenicity

not specified
Noonan syndrome 6
Condition: not provided
Noonan syndrome and Noonan-related syndrome
RASopathy
NRAS-related disorder

Criteria Provided
Conflicting Classifications

CA292582

rs_9724626

7 SubmittersRCV000127228 RCV001101050 RCV000588495 RCV001813388 RCV001089307 RCV003905211

NM_002834.5(PTPN11):c.*50C>T

SNV
Germline

Chr12:112505842

Conflicting classifications of pathogenicity

not specified
Metachondromatosis
Noonan syndrome 1
LEOPARD syndrome 1
PTPN11-related disorder

Criteria Provided
Conflicting Classifications

CA292977

rs_730880328

3 SubmittersRCV000127659 RCV000270635 RCV000328023 RCV000385112 RCV004532530

NM_007373.4(SHOC2):c.-244G>T

SNV
Germline

Chr10:110919648

Conflicting classifications of pathogenicity

not specified
Noonan syndrome-like disorder with loose anagen hair 1

Criteria Provided
Conflicting Classifications

CA293478

rs_192673935

2 SubmittersRCV000128038 RCV001103679

NM_005633.4(SOS1):c.1953A>G (p.Pro651=)

SNV
Germline

Chr2:39013977

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Noonan syndrome and Noonan-related syndrome
RASopathy
Cardiovascular phenotype
SOS1-related disorder

Criteria Provided
Conflicting Classifications

CA200951

rs_141507912

8 SubmittersRCV000174343 RCV000587965 RCV001813392 RCV001089232 RCV002415621 RCV003965071

NM_005633.4(SOS1):c.1989A>C (p.Ile663=)

SNV
Germline

Chr2:39013941

Conflicting classifications of pathogenicity

not specified
Noonan syndrome
Gingival fibromatosis
RASopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA293647

rs_587781172

4 SubmittersRCV000128181 RCV000266750 RCV000324479 RCV002514700 RCV003162570

NM_005633.4(SOS1):c.3585A>G (p.Arg1195=)

SNV
Germline

Chr2:38986241

Conflicting classifications of pathogenicity

not specified
Noonan syndrome 4
Cardiovascular phenotype
RASopathy
Fibromatosis, gingival, 1

Criteria Provided
Conflicting Classifications

CA293651

rs_587781173

4 SubmittersRCV000128189 RCV001141204 RCV002460045 RCV003539798 RCV001141205

NM_001042492.3(NF1):c.231A>T (p.Lys77Asn)

SNV
Germline

Chr17:31159036

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Condition: not provided
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA164511

rs_373563053

5 SubmittersRCV000129481 RCV000205241 RCV001808397 RCV002478386 RCV002453460

NM_001042492.3(NF1):c.4526G>A (p.Arg1509His)

SNV
Germline

Chr17:31260464

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
not specified
Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis

Criteria Provided
Conflicting Classifications

CA165109

rs_546073780

9 SubmittersRCV000129797 RCV000205307 RCV001818305 RCV000680997 RCV002326843 RCV003483497

NM_001042492.3(NF1):c.575G>A (p.Arg192Gln)

SNV
Germline

Chr17:31169986

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA165152

rs_587781670

5 SubmittersRCV000129826 RCV000476088 RCV000765343 RCV001549489 RCV002345443

NM_001042492.3(NF1):c.5289A>G (p.Gln1763=)

SNV
Germline

Chr17:31327519

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Condition: not provided
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA165305

rs_199703296

5 SubmittersRCV000129895 RCV000546358 RCV001588981 RCV002505106 RCV002336284

NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile)

SNV
Germline

Chr17:31232821

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
not specified
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, familial spinal
Café-au-lait macules with pulmonary stenosis
Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA165440

rs_201047812

15 SubmittersRCV000129967 RCV000200527 RCV000612512 RCV001125917 RCV001125918 RCV001125919 RCV001594850 RCV004558326

NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser)

SNV
Germline

Chr17:31258377

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Condition: not provided
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, familial spinal
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
not specified
NF1-related disorder
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia

Criteria Provided
Conflicting Classifications

CA166199

rs_138227618

9 SubmittersRCV000130328 RCV000197840 RCV000680999 RCV001126023 RCV001126022 RCV001126024 RCV002326844 RCV001824642 RCV004551254 RCV002498641

NM_001042492.3(NF1):c.3604G>T (p.Ala1202Ser)

SNV
Germline

Chr17:31233109

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Condition: not provided
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome

Criteria Provided
Conflicting Classifications

CA166289

rs_146641724

7 SubmittersRCV000130378 RCV000206873 RCV000680625 RCV000764108 RCV002453461 RCV003330502

NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile)

SNV
Germline

Chr17:31352319

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Neurofibromatosis, type 1
not specified
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA166586

rs_149055633

6 SubmittersRCV000130522 RCV000421743 RCV000475666 RCV001818315 RCV000764117 RCV002381447

NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val)

SNV
Germline

Chr17:31358550

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Café-au-lait macules with pulmonary stenosis
not specified
Neurofibromatosis-Noonan syndrome
NF1-related disorder
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA166728

rs_146315101

9 SubmittersRCV000130596 RCV000430382 RCV001082766 RCV001128479 RCV001128481 RCV001797634 RCV001128480 RCV004551256 RCV004558333

NM_001042492.3(NF1):c.1166A>G (p.His389Arg)

SNV
Germline

Chr17:31201140

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Condition: not provided
Atypical coarctation of aorta
Neurofibromatosis, familial spinal
Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA167012

rs_149739570

9 SubmittersRCV000204985 RCV000680982 RCV000845190 RCV001121970 RCV000708723 RCV000765345 RCV001121969 RCV001121971 RCV002326845

NM_002880.4(RAF1):c.709G>A (p.Ala237Thr)

SNV
Germline

Chr3:12604261

Conflicting classifications of pathogenicity

Dilated cardiomyopathy 1NN
Condition: not provided
Noonan syndrome 5
RASopathy

Criteria Provided
Conflicting Classifications

CA167984

rs_587777588

4 SubmittersRCV000131337 RCV001588987 RCV001775085 RCV001857459

NM_001042492.3(NF1):c.1801C>T (p.Arg601Trp)

SNV
Germline

Chr17:31223523

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA168912

rs_587782592

4 SubmittersRCV000131934 RCV000470005 RCV002483268 RCV004558339

NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys)

SNV
Germline

Chr17:31327743

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Condition: not provided
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, familial spinal
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA169448

rs_368654378

9 SubmittersRCV000132225 RCV000168027 RCV000484858 RCV000515448 RCV001128217 RCV001128218 RCV001128219 RCV002345446

NM_002880.4(RAF1):c.1172G>T (p.Arg391Met)

SNV
Germline

Chr3:12591729

Conflicting classifications of pathogenicity

Noonan syndrome

No Assertion Criteria Provided

CA345872

rs_587782972

2 SubmittersRCV000143944

NM_005343.4(HRAS):c.182A>G (p.Gln61Arg)

SNV
Germline/somatic

Chr11:533874

Likely pathogenic

Linear nevus sebaceous syndrome
Condition: not provided
Thyroid tumor
Neoplasm
Vascular Tumors Including Pyogenic Granuloma
Noonan syndrome and Noonan-related syndrome
Salivary gland neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA173968

rs_121913233

6 SubmittersRCV000148033 RCV000157918 RCV000418550 RCV000437086 RCV000662268 RCV001813393 RCV001844808

NM_002524.5(NRAS):c.553C>T (p.Pro185Ser)

SNV
Germline

Chr1:114708552

Conflicting classifications of pathogenicity

not specified
Noonan syndrome 6
RASopathy
Noonan syndrome
NRAS-related disorder

Criteria Provided
Conflicting Classifications

CA183538

rs_374061873

7 SubmittersRCV000155806 RCV000373742 RCV000654962 RCV001261093 RCV003945240

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_005633.4(SOS1):c.3706C>A (p.Pro1236Thr)

SNV
Germline

Chr2:38986120

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Noonan syndrome 4
Cardiovascular phenotype
RASopathy

Criteria Provided
Conflicting Classifications

CA183755

rs_727504636

6 SubmittersRCV000155897 RCV000680364 RCV002291573 RCV002345510 RCV001857535

NM_005633.4(SOS1):c.1867T>G (p.Phe623Val)

SNV
Germline

Chr2:39014838

Conflicting classifications of pathogenicity

Noonan syndrome
Condition: not provided
not specified
RASopathy

Criteria Provided
Conflicting Classifications

CA185039

rs_727505093

4 SubmittersRCV000156537 RCV000414349 RCV000770761 RCV000793245

NM_005633.4(SOS1):c.1720G>A (p.Val574Ile)

SNV
Germline

Chr2:39022708

Conflicting classifications of pathogenicity

not specified
Noonan syndrome 4
Fibromatosis, gingival, 1
Condition: not provided
RASopathy
Fibromatosis, gingival, 1
Noonan syndrome 4
Brugada syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA183765

rs_727504641

9 SubmittersRCV000155902 RCV000284494 RCV000376698 RCV000586070 RCV000654926 RCV000764405 RCV003448272 RCV003298167

NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys)

SNV
Germline

Chr3:12584929

Conflicting classifications of pathogenicity

not specified
Noonan syndrome 5
LEOPARD syndrome 2
Primary familial hypertrophic cardiomyopathy
RASopathy
Noonan syndrome
Condition: not provided
Cardiovascular phenotype
RAF1-related disorder

Criteria Provided
Conflicting Classifications

CA180851

rs_370242565

11 SubmittersRCV000154479 RCV000309941 RCV000407178 RCV000623835 RCV000692399 RCV001543110 RCV001719956 RCV002399538 RCV004544406

NM_002880.4(RAF1):c.285C>G (p.Cys95Trp)

SNV
Germline

Chr3:12611985

Likely pathogenic

Noonan syndrome

Criteria Provided
Single Submitter

CA273221

rs_727503384

1 SubmittersRCV000151719

NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe)

SNV
Germline

Chr7:140778053

Pathogenic

RASopathy
Noonan syndrome
Cardio-facio-cutaneous syndrome
Noonan syndrome
Cardio-facio-cutaneous syndrome
Condition: not provided

Reviewed By Expert Panel

CA280060

rs_180177036

6 SubmittersRCV000154481 RCV000844617 RCV000824921 RCV001192586 RCV003317101

NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp)

SNV
Germline

Chr7:140734763

Pathogenic/Likely pathogenic

Noonan syndrome
Cardio-facio-cutaneous syndrome
Condition: not provided
Noonan syndrome
6 conditions
RASopathy
Noonan syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA273127

rs_727502904

7 SubmittersRCV000150197 RCV000788373 RCV000824929 RCV003224801 RCV001850036 RCV001374414

NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu)

SNV
Germline

Chr7:140749365

Pathogenic

Cardio-facio-cutaneous syndrome
Condition: not provided
Inborn genetic diseases
Cardiofaciocutaneous syndrome 1
Noonan syndrome 1
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA280051

rs_180177042

12 SubmittersRCV000150199 RCV000157831 RCV000624589 RCV000767527 RCV000999624 RCV000689333

NM_004333.6(BRAF):c.1449A>C (p.Lys483Asn)

SNV
Germline

Chr7:140778059

Likely pathogenic

Noonan syndrome
Cardio-facio-cutaneous syndrome

Criteria Provided
Single Submitter

CA273507

rs_727504375

1 SubmittersRCV000154526

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_007373.4(SHOC2):c.170C>T (p.Ser57Phe)

SNV
Germline

Chr10:110964528

Conflicting classifications of pathogenicity

not specified
RASopathy
Condition: not provided
Noonan syndrome-like disorder with loose anagen hair 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA185080

rs_536611911

7 SubmittersRCV000156558 RCV000471315 RCV000680347 RCV001803094 RCV002399558

NM_005188.4(CBL):c.2359C>T (p.Arg787Cys)

SNV
Germline

Chr11:119298465

Conflicting classifications of pathogenicity

not specified
RASopathy
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
CBL-related disorder

Criteria Provided
Conflicting Classifications

CA181178

rs_143132980

5 SubmittersRCV000154692 RCV000555815 RCV001813399 RCV002444637 RCV004544410

NM_005188.4(CBL):c.1099C>A (p.Gln367Lys)

SNV
Germline

Chr11:119278169

Conflicting classifications of pathogenicity

Noonan syndrome
Inborn genetic diseases
RASopathy

Criteria Provided
Conflicting Classifications

CA183197

rs_727504504

3 SubmittersRCV000155642 RCV001265817 RCV002514998

NM_005188.4(CBL):c.1228-2A>G

SNV
Germline/somatic

Chr11:119278508

Pathogenic/Likely pathogenic

Noonan syndrome
Condition: not provided
Juvenile myelomonocytic leukemia
RASopathy
Malignant germ cell tumor of ovary
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
CBL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA181066

rs_727504426

7 SubmittersRCV000154623 RCV000157861 RCV000220945 RCV000705134 RCV000722039 RCV001678585 RCV001808423

NM_002834.5(PTPN11):c.206A>T (p.Glu69Val)

SNV
Germline

Chr12:112450386

Pathogenic/Likely pathogenic

Noonan syndrome
Noonan syndrome 3
Metachondromatosis
Noonan syndrome 1
LEOPARD syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA177668

rs_727503380

3 SubmittersRCV000151687 RCV000589756 RCV004562307 RCV004562306 RCV004562308

NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu)

SNV
Germline

Chr12:112502226

Conflicting classifications of pathogenicity

not specified
Juvenile myelomonocytic leukemia
Metachondromatosis
LEOPARD syndrome 1
Noonan syndrome 1
Condition: not provided
RASopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA180941

rs_141140214

8 SubmittersRCV000154538 RCV000515184 RCV000680301 RCV000690056 RCV002399540

NM_002834.5(PTPN11):c.182A>C (p.Asp61Ala)

SNV
Germline

Chr12:112450362

Pathogenic/Likely pathogenic

Noonan syndrome
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA273600

rs_121918461

2 SubmittersRCV000156008 RCV000780656

NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr)

SNV
Germline/somatic

Chr12:112450394

Pathogenic/Likely pathogenic

RASopathy
Neuroblastoma
Neoplasm of brain
Acute myeloid leukemia
B-cell chronic lymphocytic leukemia
Condition: not provided
Noonan syndrome
Juvenile myelomonocytic leukemia
Noonan syndrome 1
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA180706

rs_121918453

8 SubmittersRCV000154367 RCV000417864 RCV000425277 RCV000443279 RCV000435950 RCV000680626 RCV000824740 RCV000995620 RCV001813395

NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr)

SNV
Germline

Chr12:112454636

Pathogenic/Likely pathogenic

Noonan syndrome
RASopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA273218

rs_727503381

5 SubmittersRCV000151696 RCV000654965 RCV000380092

NM_004985.5(KRAS):c.466T>A (p.Phe156Ile)

SNV
Germline

Chr12:25209896

Pathogenic

Noonan syndrome
Cardio-facio-cutaneous syndrome
Condition: not provided
Noonan syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA273160

rs_397517042

3 SubmittersRCV000150884 RCV000493013 RCV001813760

NM_004985.5(KRAS):c.214A>T (p.Met72Leu)

SNV
Germline

Chr12:25227310

Pathogenic/Likely pathogenic

Noonan syndrome
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA273592

rs_727504662

3 SubmittersRCV000155926 RCV001857536

NM_004985.5(KRAS):c.108A>G (p.Ile36Met)

SNV
Germline

Chr12:25245277

Pathogenic/Likely pathogenic

RASopathy
Condition: not provided
Noonan syndrome
Cardio-facio-cutaneous syndrome
Cardiofaciocutaneous syndrome 1
Cardiovascular phenotype
KRAS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA273162

rs_727503109

11 SubmittersRCV000150891 RCV000260877 RCV000844636 RCV000856729 RCV002444616 RCV004551310

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_152594.3(SPRED1):c.702C>G (p.Ile234Met)

SNV
Germline

Chr15:38351031

Conflicting classifications of pathogenicity

not specified
Legius syndrome
Noonan syndrome and Noonan-related syndrome
SPRED1-related disorder

Criteria Provided
Conflicting Classifications

CA178031

rs_138553244

7 SubmittersRCV000151932 RCV000340177 RCV001813394 RCV003975184

NM_030662.4(MAP2K2):c.401A>G (p.Tyr134Cys)

SNV
Germline

Chr19:4110558

Pathogenic

RASopathy
Cardio-facio-cutaneous syndrome
Condition: not provided
Noonan syndrome
Cardio-facio-cutaneous syndrome
Noonan syndrome 1

Reviewed By Expert Panel

CA180890

rs_727504370

6 SubmittersRCV000154507 RCV000208747 RCV000412815 RCV000844676 RCV003453160

NM_030662.4(MAP2K2):c.93-6C>T

SNV
Germline

Chr19:4117635

Conflicting classifications of pathogenicity

not specified
RASopathy
Condition: not provided
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Conflicting Classifications

CA184327

rs_727504836

5 SubmittersRCV000156178 RCV000465734 RCV001711316 RCV001813405

NM_152594.3(SPRED1):c.926T>C (p.Val309Ala)

SNV
Germline

Chr15:38351255

Conflicting classifications of pathogenicity

not specified
Legius syndrome
Condition: not provided
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA181530

rs_114636635

9 SubmittersRCV000154849 RCV000456632 RCV000586323 RCV001813401 RCV004019853

NM_152594.3(SPRED1):c.229A>T (p.Lys77Ter)

SNV
Germline

Chr15:38322262

Pathogenic

Noonan syndrome and Noonan-related syndrome
Legius syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_727504170

2 SubmittersRCV001813725 RCV002541493

NM_002755.4(MAP2K1):c.608A>G (p.Glu203Gly)

SNV
Germline

Chr15:66481794

Pathogenic

Condition: not provided
Noonan syndrome
RASopathy

Reviewed By Expert Panel

CA234222

rs_727503996

4 SubmittersRCV000153454 RCV000824938 RCV001250390

NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)

SNV
Germline

Chr1:155904494

Pathogenic/Likely pathogenic

Noonan syndrome 8
Condition: not provided
Noonan syndrome
RASopathy
Non-immune hydrops fetalis
Noonan syndrome and Noonan-related syndrome
Congenital heart disease
Noonan syndrome
RIT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA297161

rs_730881014

17 SubmittersRCV000054406 RCV000159101 RCV000207343 RCV001255602 RCV001375970 RCV001813414 RCV003483526 RCV003398818

NM_005633.4(SOS1):c.3956T>G (p.Met1319Arg)

SNV
Germline

Chr2:38985870

Conflicting classifications of pathogenicity

Condition: not provided
Fibromatosis, gingival, 1
Noonan syndrome 4
RASopathy

Criteria Provided
Conflicting Classifications

CA297241

rs_730881036

3 SubmittersRCV000159146 RCV002492631 RCV002516398

NM_005633.4(SOS1):c.3857C>T (p.Ser1286Phe)

SNV
Germline

Chr2:38985969

Conflicting classifications of pathogenicity

not specified
RASopathy
Cardiovascular phenotype
Fibromatosis, gingival, 1
Noonan syndrome 4
Fibromatosis, gingival, 1
Noonan syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_374341202

6 SubmittersRCV000781875 RCV001242518 RCV002354393 RCV002484991 RCV002467622 RCV002467623 RCV004567180

NM_005633.4(SOS1):c.3412A>G (p.Ile1138Val)

SNV
Germline

Chr2:38987571

Conflicting classifications of pathogenicity

Condition: not provided
RASopathy
not specified
Noonan syndrome 4
Cardiovascular phenotype
Fibromatosis, gingival, 1

Criteria Provided
Conflicting Classifications

CA297234

rs_56248239

6 SubmittersRCV000587119 RCV000697593 RCV000722119 RCV002467630 RCV002453553 RCV002467629

NM_005633.4(SOS1):c.3329C>G (p.Ser1110Trp)

SNV
Germline

Chr2:38995140

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
RASopathy
Fibromatosis, gingival, 1
Noonan syndrome 4

Criteria Provided
Conflicting Classifications

CA297231

rs_572955351

4 SubmittersRCV000159139 RCV002321669 RCV002516397 RCV002467627 RCV002467628

NM_005633.4(SOS1):c.1430A>G (p.Gln477Arg)

SNV
Germline

Chr2:39022998

Pathogenic/Likely pathogenic

Condition: not provided
Fibromatosis, gingival, 1
Noonan syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA297270

rs_730881044

2 SubmittersRCV000159168 RCV003224178

NM_005633.4(SOS1):c.1310T>G (p.Ile437Ser)

SNV
Germline

Chr2:39023118

Pathogenic/Likely pathogenic

Condition: not provided
RASopathy
Noonan syndrome
Noonan syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA297264

rs_397517150

4 SubmittersRCV000159165 RCV001379728 RCV001261079 RCV002467633

NM_005633.4(SOS1):c.1271A>G (p.Glu424Gly)

SNV
Germline

Chr2:39023157

Conflicting classifications of pathogenicity

Condition: not provided
RASopathy
Noonan syndrome 4
Cardiovascular phenotype
Fibromatosis, gingival, 1

Criteria Provided
Conflicting Classifications

CA297261

rs_730881042

5 SubmittersRCV000159160 RCV000795849 RCV001330104 RCV002372038 RCV002467632

NM_004333.6(BRAF):c.1742-10T>G

SNV
Germline

Chr7:140753403

Conflicting classifications of pathogenicity

Condition: not provided
RASopathy
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Conflicting Classifications

CA295899

rs_730880411

3 SubmittersRCV000157812 RCV001294403 RCV001813406

NM_004333.6(BRAF):c.739T>C (p.Phe247Leu)

SNV
Germline

Chr7:140801533

Pathogenic

Condition: not provided
Noonan syndrome and Noonan-related syndrome
Noonan syndrome
RASopathy
Noonan syndrome 7
Noonan syndrome 1
Cardiofaciocutaneous syndrome 1
Cardiofaciocutaneous syndrome 1

Reviewed By Expert Panel

CA295904

rs_397516903

7 SubmittersRCV000157818 RCV000788010 RCV000824913 RCV000809145 RCV001808428 RCV001803101 RCV003992202

NM_007373.4(SHOC2):c.355A>G (p.Ile119Val)

SNV
Germline

Chr10:110964713

Conflicting classifications of pathogenicity

RASopathy
Noonan syndrome-like disorder with loose anagen hair 1
Noonan syndrome and Noonan-related syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA297175

rs_147068827

5 SubmittersRCV000466484 RCV000763645 RCV001813417 RCV002262761 RCV002336368

NM_005188.4(CBL):c.1096-1G>T

SNV
Germline

Chr11:119278165

Pathogenic

Condition: not provided
Noonan syndrome
RASopathy
Fragile site 11b
CBL-related disorder
CBL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA295986

rs_397517076

5 SubmittersRCV000157858 RCV000217231 RCV000702743 RCV001249230 RCV003989335

NM_005188.4(CBL):c.1111T>A (p.Tyr371Asn)

SNV
Germline

Chr11:119278181

Pathogenic/Likely pathogenic

not specified
Noonan syndrome 1
CBL-related disorder
Neurodevelopmental disorder
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA296015

rs_267606706

5 SubmittersRCV000506397 RCV000856726 RCV001814073 RCV002277316 RCV003539801

NM_005188.4(CBL):c.2060C>T (p.Pro687Leu)

SNV
Germline

Chr11:119296941

Conflicting classifications of pathogenicity

CBL-related disorder
RASopathy
not specified
Noonan syndrome and Noonan-related syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA296005

rs_146705974

8 SubmittersRCV000287851 RCV000654929 RCV001280639 RCV001813408 RCV001704138

NM_002834.5(PTPN11):c.226G>C (p.Glu76Gln)

SNV
Germline

Chr12:112450406

Pathogenic/Likely pathogenic

Condition: not provided
Noonan syndrome and Noonan-related syndrome
Noonan syndrome 1
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA297076

rs_121918464

5 SubmittersRCV000159045 RCV001813410 RCV002288669 RCV002281971

NM_002834.5(PTPN11):c.854T>A (p.Phe285Tyr)

SNV
Germline

Chr12:112477651

Pathogenic/Likely pathogenic

Condition: not provided
RASopathy
Noonan syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA297085

rs_121918463

4 SubmittersRCV000159051 RCV001526955 RCV001261017 RCV002408715

NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser)

SNV
Germline

Chr12:112477690

Conflicting classifications of pathogenicity

Condition: not provided
Cardio-facio-cutaneous syndrome
RASopathy
not specified
Cardiovascular phenotype
Noonan syndrome 1
Juvenile myelomonocytic leukemia
LEOPARD syndrome 1
Metachondromatosis

Criteria Provided
Conflicting Classifications

CA297088

rs_572274623

6 SubmittersRCV000159053 RCV000208167 RCV001850234 RCV001844054 RCV002372037 RCV002492630

NM_002834.5(PTPN11):c.1471C>G (p.Pro491Ala)

SNV
Germline

Chr12:112489047

Conflicting classifications of pathogenicity

Noonan syndrome 1
Noonan syndrome
Noonan syndrome and Noonan-related syndrome
RASopathy
Astrocytic tumor
Condition: not provided

Criteria Provided
Conflicting Classifications

CA297097

rs_397507539

6 SubmittersRCV001002766 RCV001261020 RCV001813411 RCV002515083 RCV003764999 RCV000159056

NM_006912.6(RIT1):c.265T>C (p.Tyr89His)

SNV
Germline

Chr1:155904475

Pathogenic

Noonan syndrome
Condition: not provided
Noonan syndrome 8
Noonan syndrome and Noonan-related syndrome
RIT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA353873

rs_869025197

7 SubmittersRCV000207342 RCV000486847 RCV000707713 RCV001813421 RCV003965185

NM_006912.6(RIT1):c.251C>T (p.Ala84Val)

SNV
Germline

Chr1:155904489

Pathogenic/Likely pathogenic

Noonan syndrome
Condition: not provided
Noonan syndrome 8
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA353881

rs_869025196

6 SubmittersRCV000207351 RCV000492853 RCV001384932 RCV003162683

NM_006912.6(RIT1):c.247A>C (p.Thr83Pro)

SNV
Germline

Chr1:155904493

Pathogenic

Noonan syndrome
Condition: not provided
Inborn genetic diseases
Noonan syndrome 1
RASopathy
Noonan syndrome 8

Criteria Provided
Multiple Submitters
No Conflicts

CA353876

rs_869025195

9 SubmittersRCV000207345 RCV000414438 RCV000622399 RCV000856766 RCV001175490 RCV001384933

NM_006912.6(RIT1):c.244T>G (p.Phe82Val)

SNV
Germline

Chr1:155904496

Pathogenic

Noonan syndrome 8
Noonan syndrome
Condition: not provided
Noonan syndrome and Noonan-related syndrome
RASopathy
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA353883

rs_869025194

15 SubmittersRCV000170492 RCV000207352 RCV000263369 RCV001813420 RCV001778757 RCV002453562

NM_006912.6(RIT1):c.244T>C (p.Phe82Leu)

SNV
Germline

Chr1:155904496

Pathogenic

Noonan syndrome
Condition: not provided
Noonan syndrome and Noonan-related syndrome
RASopathy
Noonan syndrome 8
RIT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA353877

rs_869025194

14 SubmittersRCV000207346 RCV000254958 RCV001813419 RCV003317110 RCV001850287 RCV003927532

NM_006912.6(RIT1):c.244T>A (p.Phe82Ile)

SNV
Germline

Chr1:155904496

Pathogenic

Noonan syndrome
Noonan syndrome 8
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA353868

rs_869025194

5 SubmittersRCV000207338 RCV000226825 RCV001731491

NM_006912.6(RIT1):c.242A>G (p.Glu81Gly)

SNV
Germline

Chr1:155904498

Pathogenic/Likely pathogenic

Noonan syndrome 8
Condition: not provided
Noonan syndrome
not specified
RASopathy
Noonan syndrome and Noonan-related syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA353880

rs_869025193

15 SubmittersRCV000054405 RCV000255048 RCV000207350 RCV000508083 RCV001174556 RCV001813418 RCV001265779

NM_006912.6(RIT1):c.241G>C (p.Glu81Gln)

SNV
Unknown

Chr1:155904499

Pathogenic

Noonan syndrome

No Assertion Criteria Provided

CA353878

rs_869025192

1 SubmittersRCV000207347

NM_006912.6(RIT1):c.229G>A (p.Ala77Thr)

SNV
Germline

Chr1:155904739

Pathogenic/Likely pathogenic

Noonan syndrome
Condition: not provided
Noonan syndrome 8
Noonan syndrome 1
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA353870

rs_869025191

10 SubmittersRCV000207340 RCV000282691 RCV000578238 RCV000856755 RCV003114309

NM_006912.6(RIT1):c.104G>C (p.Ser35Thr)

SNV
Germline

Chr1:155910658

Pathogenic

Noonan syndrome
Condition: not provided
Noonan syndrome 8
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA353872

rs_869025189

8 SubmittersRCV000207341 RCV000255076 RCV000475746 RCV003235080

NM_001042492.3(NF1):c.55G>T (p.Glu19Ter)

SNV
Germline

Chr17:31095364

Pathogenic

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Condition: not provided
Neurofibromatosis, familial spinal
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA196174

rs_786203307

7 SubmittersRCV000166554 RCV000554192 RCV001799629 RCV003883138

NM_001042492.3(NF1):c.100G>A (p.Val34Ile)

SNV
Germline

Chr17:31156022

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Neurofibromatosis, type 1
Juvenile myelomonocytic leukemia
Neurofibromatosis, familial spinal
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA193875

rs_772995929

4 SubmittersRCV000165635 RCV000534740 RCV002478510 RCV004558377

NM_001042492.3(NF1):c.354C>T (p.Cys118=)

SNV
Germline

Chr17:31163251

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Neurofibromatosis, type 1
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Neurofibromatosis-Noonan syndrome
not specified
NF1-related disorder

Criteria Provided
Conflicting Classifications

CA192349

rs_768777585

8 SubmittersRCV000165034 RCV000681114 RCV001080592 RCV001127656 RCV001127657 RCV001127658 RCV001251350 RCV004552899

NM_001042492.3(NF1):c.864G>C (p.Val288=)

SNV
Germline

Chr17:31182641

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis-Noonan syndrome

Criteria Provided
Conflicting Classifications

CA190258

rs_201181517

3 SubmittersRCV000164185 RCV000549822 RCV001127746 RCV001127747 RCV001127748

NM_001042492.3(NF1):c.910C>T (p.Arg304Ter)

SNV
Germline

Chr17:31200443

Pathogenic

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Condition: not provided
not specified
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
NF1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA198406

rs_786203950

20 SubmittersRCV000167474 RCV000468520 RCV000579282 RCV000508304 RCV001294062 RCV002498830 RCV004552933

NM_001042492.3(NF1):c.1032A>G (p.Leu344=)

SNV
Germline

Chr17:31200565

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
not specified

Criteria Provided
Conflicting Classifications

CA188135

rs_199832006

9 SubmittersRCV000163379 RCV000679374 RCV001086621 RCV001121966 RCV001121967 RCV001121968 RCV001818365

NM_001042492.3(NF1):c.1308G>A (p.Ser436=)

SNV
Germline

Chr17:31206287

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, familial spinal
Café-au-lait macules with pulmonary stenosis

Criteria Provided
Conflicting Classifications

CA190911

rs_765425127

6 SubmittersRCV000164423 RCV000681012 RCV001084179 RCV001124738 RCV001124739 RCV001124740

NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg)

SNV
Germline

Chr17:31225236

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
10 conditions
Neurofibromatosis, type 1
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Neurofibromatosis-Noonan syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA188459

rs_140653372

7 SubmittersRCV000163499 RCV000415075 RCV000206471 RCV001124834 RCV001124832 RCV001124833 RCV001549334 RCV002415711

NM_001042492.3(NF1):c.2178G>C (p.Val726=)

SNV
Germline

Chr17:31226611

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Neurofibromatosis, type 1
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, familial spinal
not specified
NF1-related disorder

Criteria Provided
Conflicting Classifications

CA188471

rs_369590240

7 SubmittersRCV000163502 RCV000420184 RCV001083588 RCV001127930 RCV001127931 RCV001127929 RCV001818366 RCV004551400

NM_001042492.3(NF1):c.2251+5A>G

SNV
Germline

Chr17:31226689

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Juvenile myelomonocytic leukemia
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA191058

rs_786201934

4 SubmittersRCV000164471 RCV000800948 RCV002485017 RCV003162691

NM_001042492.3(NF1):c.2573C>G (p.Ser858Cys)

SNV
Germline

Chr17:31229188

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Condition: not provided
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Juvenile myelomonocytic leukemia
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA191732

rs_369493270

6 SubmittersRCV000164772 RCV000475700 RCV000681003 RCV001027838 RCV003224179 RCV004558365

NM_001042492.3(NF1):c.3213A>G (p.Ala1071=)

SNV
Germline

Chr17:31232088

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal

Criteria Provided
Conflicting Classifications

CA191602

rs_786202077

4 SubmittersRCV000164712 RCV000907557 RCV001124943 RCV001124941 RCV001124942

NM_001042492.3(NF1):c.3867C>T (p.Phe1289=)

SNV
Germline

Chr17:31235769

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
not specified
Condition: not provided
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Neurofibromatosis-Noonan syndrome
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA188590

rs_138186428

15 SubmittersRCV000163550 RCV000198661 RCV000245250 RCV000514507 RCV001128022 RCV001128023 RCV001128024 RCV004558355

NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala)

SNV
Germline

Chr17:31235930

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Juvenile myelomonocytic leukemia
Condition: not provided
not specified
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, familial spinal
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA192901

rs_143836226

12 SubmittersRCV000205468 RCV000165261 RCV000515307 RCV000680330 RCV000428670 RCV001122259 RCV001122260 RCV001122261 RCV002362857

NM_001042492.3(NF1):c.4111-4G>A

SNV
Germline

Chr17:31252934

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
NF1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA192105

rs_764877783

4 SubmittersRCV000164933 RCV002492658 RCV004552898 RCV003416039

NM_001042492.3(NF1):c.4749A>G (p.Glu1583=)

SNV
Germline

Chr17:31265253

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA189401

rs_144091165

9 SubmittersRCV000163873 RCV000266821 RCV000360964 RCV000206001 RCV000269925 RCV000679394 RCV000604815

NM_001042492.3(NF1):c.5049C>T (p.Asn1683=)

SNV
Germline

Chr17:31326033

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Neurofibromatosis, type 1
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Neurofibromatosis-Noonan syndrome

Criteria Provided
Conflicting Classifications

CA189791

rs_140994965

10 SubmittersRCV000164013 RCV000679396 RCV000781665 RCV001083508 RCV001126127 RCV001126128 RCV001126129

NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln)

SNV
Germline

Chr17:31327839

Pathogenic

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Condition: not provided
Neurofibromatosis, type 1
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Rhabdomyosarcoma
Juvenile myelomonocytic leukemia
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA191710

rs_786202112

15 SubmittersRCV000164762 RCV000408787 RCV000494213 RCV000762993 RCV001257532 RCV003462148 RCV004558364

NM_001042492.3(NF1):c.5757G>A (p.Glu1919=)

SNV
Germline

Chr17:31330443

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Neurofibromatosis, type 1
Condition: not provided
Neurofibromatosis, familial spinal
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis

Criteria Provided
Conflicting Classifications

CA188125

rs_141077224

10 SubmittersRCV000163376 RCV000611445 RCV001083474 RCV000679401 RCV001122482 RCV001122483 RCV001122484

NM_001042492.3(NF1):c.5782G>T (p.Glu1928Ter)

SNV
Germline

Chr17:31330468

Pathogenic

Hereditary cancer-predisposing syndrome
Neurofibromatosis, familial spinal
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, type 1
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA198197

rs_786203896

4 SubmittersRCV000167400 RCV000762994 RCV002274922

NM_001042492.3(NF1):c.6555G>A (p.Arg2185=)

SNV
Germline

Chr17:31337495

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA195752

rs_786203189

4 SubmittersRCV000166393 RCV000275738 RCV000315684 RCV000372613 RCV000330706 RCV001567747

NM_001042492.3(NF1):c.6665C>T (p.Thr2222Met)

SNV
Germline

Chr17:31337841

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Condition: not provided
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Juvenile myelomonocytic leukemia
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA195062

rs_369803831

6 SubmittersRCV000166122 RCV000472540 RCV001582655 RCV002505211 RCV002372050

NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter)

SNV
Germline

Chr17:31338739

Pathogenic

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Condition: not provided
Neurofibromatosis, type 1
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Ewing sarcoma
Gastric cancer
Juvenile myelomonocytic leukemia
NF1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA190957

rs_772295894

27 SubmittersRCV000164442 RCV000199249 RCV000489640 RCV000763393 RCV000851299 RCV003162690 RCV003467298 RCV004552888

NM_001042492.3(NF1):c.7003A>G (p.Thr2335Ala)

SNV
Germline

Chr17:31340586

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Condition: not provided
Neurofibromatosis, type 1
Juvenile myelomonocytic leukemia
Neurofibromatosis, familial spinal
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA195522

rs_370209920

5 SubmittersRCV000166305 RCV000476769 RCV001582656 RCV002498823 RCV004558391

NM_001042492.3(NF1):c.7026G>A (p.Leu2342=)

SNV
Germline

Chr17:31340609

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
not specified
Condition: not provided
NF1-related disorder

Criteria Provided
Conflicting Classifications

CA189029

rs_371581213

10 SubmittersRCV000163716 RCV000353715 RCV000340759 RCV000394144 RCV000301011 RCV000616739 RCV002274959 RCV004551407

NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val)

SNV
Germline

Chr17:31349143

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Juvenile myelomonocytic leukemia
Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA194028

rs_565708398

9 SubmittersRCV000165705 RCV000196434 RCV000515215 RCV001548376 RCV003162703 RCV001818383

NM_001042492.3(NF1):c.7246C>T (p.Leu2416=)

SNV
Germline

Chr17:31349176

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis-Noonan syndrome

Criteria Provided
Conflicting Classifications

CA188027

rs_786201310

3 SubmittersRCV000163341 RCV000273660 RCV000401489 RCV000314078 RCV000371061

NM_001042492.3(NF1):c.7484C>T (p.Ser2495Phe)

SNV
Germline

Chr17:31352283

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Condition: not provided
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Juvenile myelomonocytic leukemia
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA191368

rs_757245615

6 SubmittersRCV000164602 RCV000465877 RCV000681280 RCV002478504 RCV003162692

NM_001042492.3(NF1):c.7909C>T (p.Arg2637Ter)

SNV
Germline

Chr17:31357308

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Neurofibromatosis, type 1
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Condition: not provided
Neurofibromatosis, type 1
Tibial pseudarthrosis
Neurofibromatosis-Noonan syndrome
NF1-related disorder
Juvenile myelomonocytic leukemia

Criteria Provided
Multiple Submitters
No Conflicts

CA188413

rs_786201367

22 SubmittersRCV000163482 RCV000196216 RCV000515434 RCV000599610 RCV001009586 RCV001808436 RCV004551398 RCV003462120

NM_001042492.3(NF1):c.8446G>A (p.Gly2816Arg)

SNV
Germline

Chr17:31374081

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Juvenile myelomonocytic leukemia
not specified

Criteria Provided
Conflicting Classifications

CA195946

rs_778233452

5 SubmittersRCV000166465 RCV000632473 RCV002433719 RCV002492669 RCV003488413

NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)

SNV
Germline

Chr17:31226474

Pathogenic

Neurofibromatosis, type 1
Condition: not provided
Optic nerve glioma
Axillary freckling
Cafe-au-lait spot
not specified
Rhabdomyosarcoma
Neurofibromatosis-Noonan syndrome
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA334507

rs_768638173

19 SubmittersRCV000168265 RCV000414746 RCV000415426 RCV000999937 RCV001257528 RCV001775088 RCV002313014

NM_006912.6(RIT1):c.270G>C (p.Met90Ile)

SNV
Germline

Chr1:155904470

Pathogenic/Likely pathogenic

Noonan syndrome 8
Condition: not provided
RIT1-related disorder
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA1151814

rs_483352822

10 SubmittersRCV000170493 RCV000355969 RCV003416059 RCV001813422 RCV004020021

NM_005633.4(SOS1):c.2105A>G (p.Tyr702Cys)

SNV
Germline

Chr2:39013522

Conflicting classifications of pathogenicity

Condition: not provided
Fibromatosis, gingival, 1
Noonan syndrome 4
RASopathy

Criteria Provided
Conflicting Classifications

CA236034

rs_757094189

4 SubmittersRCV000171288 RCV002505234 RCV002515236

NM_005633.4(SOS1):c.3769A>G (p.Thr1257Ala)

SNV
Germline

Chr2:38986057

Conflicting classifications of pathogenicity

Condition: not provided
RASopathy
Fibromatosis, gingival, 1
Noonan syndrome 4
Fibromatosis, gingival, 1
Noonan syndrome 4
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA242343

rs_553805862

10 SubmittersRCV000176407 RCV001344972 RCV002467645 RCV002467646 RCV002500487 RCV002362896

NM_144670.6(A2ML1):c.2405G>A (p.Arg802His)

SNV
Germline

Chr12:8851954

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome
not specified
A2ML1-related disorder

Criteria Provided
Conflicting Classifications

CA354435

rs_201562272

7 SubmittersRCV000185643 RCV001251215 RCV001201332 RCV003937655

NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)

SNV
Germline

Chr17:31327718

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Condition: not provided
not specified
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Intellectual disability
Neurofibromatosis-Noonan syndrome
Neurodevelopmental delay
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Juvenile myelomonocytic leukemia
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Juvenile myelomonocytic leukemia
NF1-related disorder

Criteria Provided
Conflicting Classifications

CA276040

rs_797045139

26 SubmittersRCV000190889 RCV000439869 RCV000999745 RCV001027793 RCV001257603 RCV001775095 RCV002273979 RCV002503749 RCV002319460 RCV003468878 RCV004553045

NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu)

SNV
Germline

Chr17:31327719

Pathogenic/Likely pathogenic

Neurofibromatosis, type 1
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Juvenile myelomonocytic leukemia
Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA276045

rs_771529172

8 SubmittersRCV000190890 RCV000762992 RCV001589057 RCV002311032

NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)

SNV
Germline

Chr22:20990476

Conflicting classifications of pathogenicity

Noonan syndrome 10
Condition: not provided
Schwannomatosis 2
Noonan syndrome 10
Fetal cystic hygroma
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Schwannomatosis 2
RASopathy

Criteria Provided
Conflicting Classifications

CA358852

rs_869320686

20 SubmittersRCV000191027 RCV000413889 RCV000763072 RCV001526613 RCV002381647 RCV003988835 RCV004576927

NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys)

SNV
Germline

Chr22:20991686

Pathogenic

Noonan syndrome 10
Condition: not provided
Schwannomatosis 2
Noonan syndrome 10
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA204980

rs_797045165

9 SubmittersRCV000191028 RCV000658480 RCV000763073 RCV002444774 RCV004530087

NM_006767.4(LZTR1):c.740G>A (p.Ser247Asn)

SNV
Germline

Chr22:20990474

Pathogenic

Noonan syndrome 10

No Assertion Criteria Provided

CA204982

rs_797045166

1 SubmittersRCV000191029

NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser)

SNV
Germline

Chr14:50161551

Pathogenic

Noonan syndrome 9
Condition: not provided
Noonan syndrome
Noonan syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA358853

rs_869320687

8 SubmittersRCV000191030 RCV000224178 RCV000845122 RCV003454490

NM_006939.4(SOS2):c.800T>A (p.Met267Lys)

SNV
Germline

Chr14:50182521

Pathogenic

Noonan syndrome 9
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA204984

rs_797045167

7 SubmittersRCV000191031 RCV003320592

NM_001042492.3(NF1):c.731-6A>C

SNV
Germline

Chr17:31182502

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Neurofibromatosis, type 1
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Neurofibromatosis-Noonan syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA336953

rs_369366499

10 SubmittersRCV000243785 RCV000679410 RCV001081743 RCV001125651 RCV001125652 RCV001125653 RCV002256109

NM_001042492.3(NF1):c.4766C>T (p.Thr1589Met)

SNV
Germline

Chr17:31265270

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA335711

rs_185660700

8 SubmittersRCV000195487 RCV000213390 RCV000679395 RCV000764113 RCV003165467

NM_001042492.3(NF1):c.7396A>G (p.Ile2466Val)

SNV
Germline

Chr17:31350257

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Hereditary cancer-predisposing syndrome
Condition: not provided
Juvenile myelomonocytic leukemia
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
not specified
NF1-related disorder

Criteria Provided
Conflicting Classifications

CA339497

rs_748027595

7 SubmittersRCV000200710 RCV000575889 RCV000681161 RCV000764116 RCV002317726 RCV003401080 RCV004553095

NM_007373.4(SHOC2):c.806A>G (p.Gln269Arg)

SNV
Germline

Chr10:110985730

Conflicting classifications of pathogenicity

not specified
Noonan syndrome-like disorder with loose anagen hair 1
Noonan syndrome
RASopathy
SHOC2-related disorder

Criteria Provided
Conflicting Classifications

CA249249

rs_864309599

5 SubmittersRCV000203043 RCV002272173 RCV002273987 RCV002515502 RCV003407717

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_002880.4(RAF1):c.462C>G (p.Ile154Met)

SNV
Germline

Chr3:12608885

Conflicting classifications of pathogenicity

RASopathy
LEOPARD syndrome 2
Noonan syndrome 5
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA349068

rs_367732360

4 SubmittersRCV000204876 RCV001144315 RCV001144316 RCV001566347 RCV002327066

NM_001042492.3(NF1):c.5225A>G (p.Asn1742Ser)

SNV
Germline

Chr17:31326209

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Juvenile myelomonocytic leukemia
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype

Criteria Provided
Conflicting Classifications

CA350599

rs_745407845

6 SubmittersRCV000206576 RCV001545516 RCV002317731 RCV002494519 RCV003313057

NM_001042492.3(NF1):c.7055A>G (p.Asn2352Ser)

SNV
Germline

Chr17:31340638

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Hereditary cancer-predisposing syndrome
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA350500

rs_763082717

6 SubmittersRCV000206473 RCV000571459 RCV002317733 RCV002503803 RCV003237766

NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys)

SNV
Germline

Chr17:31350215

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Hereditary cancer-predisposing syndrome
Juvenile myelomonocytic leukemia
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA348018

rs_377662483

7 SubmittersRCV000203720 RCV000571589 RCV000764115 RCV000681043 RCV002317738

NM_001042492.3(NF1):c.7870-8C>A

SNV
Germline

Chr17:31357261

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Condition: not provided
NF1-related disorder

Criteria Provided
Conflicting Classifications

CA350845

rs_372441422

4 SubmittersRCV000206850 RCV000368645 RCV000335775 RCV000397735 RCV001558774 RCV004547485

NM_004333.6(BRAF):c.1574T>C (p.Leu525Pro)

SNV
Germline

Chr7:140777032

Pathogenic/Likely pathogenic

Condition: not provided
Noonan syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA354839

rs_869025340

4 SubmittersRCV000207510 RCV001781616

NM_002524.5(NRAS):c.71T>A (p.Ile24Asn)

SNV
Germline

Chr1:114716090

Pathogenic

Noonan syndrome 1
Condition: not provided

Criteria Provided
Single Submitter

CA356968

rs_869025573

2 SubmittersRCV000208553 RCV000522652

NM_002834.5(PTPN11):c.1174G>A (p.Ala392Thr)

SNV
Germline

Chr12:112482155

Conflicting classifications of pathogenicity

Noonan syndrome 1
RASopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA357176

rs_774356443

3 SubmittersRCV000209886 RCV001853345 RCV002261008

NM_006912.6(RIT1):c.67A>C (p.Lys23Gln)

SNV
Germline

Chr1:155910695

Conflicting classifications of pathogenicity

Noonan syndrome 8
not specified
Pedal edema
Downslanted palpebral fissures
Short stature
Hypertelorism
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA353413

rs_869312687

6 SubmittersRCV000209835 RCV000521893 RCV000626786 RCV000680368 RCV003372654

NM_002834.5(PTPN11):c.205G>A (p.Glu69Lys)

SNV
Germline

Chr12:112450385

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA354979

rs_397507511

3 SubmittersRCV000210038 RCV001250211 RCV002415881

NM_006912.6(RIT1):c.229G>C (p.Ala77Pro)

SNV
Germline

Chr1:155904739

Pathogenic/Likely pathogenic

Noonan syndrome
Noonan syndrome 8
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10576360

rs_869025191

5 SubmittersRCV000218943 RCV000467706 RCV002517525

NM_005633.4(SOS1):c.587C>T (p.Ser196Leu)

SNV
Germline

Chr2:39054747

Conflicting classifications of pathogenicity

not specified
Fibromatosis, gingival, 1
Noonan syndrome 4
RASopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1624759

rs_199898869

4 SubmittersRCV000213944 RCV000268538 RCV000358698 RCV001405911 RCV003298282

NM_002880.4(RAF1):c.775T>C (p.Ser259Pro)

SNV
Germline

Chr3:12604195

Pathogenic/Likely pathogenic

Noonan syndrome
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA10576602

rs_3730271

4 SubmittersRCV000215259 RCV000781806

NM_002834.5(PTPN11):c.181G>T (p.Asp61Tyr)

SNV
Germline/somatic

Chr12:112450361

Conflicting classifications of pathogenicity

Juvenile myelomonocytic leukemia
Condition: not provided
Noonan syndrome 1

Criteria Provided
Conflicting Classifications

CA10576907

rs_397507510

4 SubmittersRCV000215649 RCV001090939 RCV003992237

NM_004985.5(KRAS):c.264A>G (p.Lys88=)

SNV
Germline

Chr12:25227260

Conflicting classifications of pathogenicity

not specified
Noonan syndrome
Condition: not provided
RASopathy
KRAS-related disorder

Criteria Provided
Conflicting Classifications

CA6486904

rs_370920665

7 SubmittersRCV000213935 RCV000369643 RCV000586846 RCV001512187 RCV004547516

NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile)

SNV
Germline

Chr15:38349426

Conflicting classifications of pathogenicity

not specified
Legius syndrome
Condition: not provided
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA501231

rs_147474792

8 SubmittersRCV000214558 RCV000229299 RCV001705204 RCV001813431 RCV004020634

NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp)

SNV
Germline

Chr15:66436818

Pathogenic

RASopathy
Noonan syndrome 1
Cardiofaciocutaneous syndrome 3
Noonan syndrome
Cardiofaciocutaneous syndrome 3

Reviewed By Expert Panel

CA10576999

rs_876657651

5 SubmittersRCV000220187 RCV000763361 RCV000844674 RCV001312196

NM_001042492.3(NF1):c.4724+11A>G

SNV
Germline

Chr17:31261868

Conflicting classifications of pathogenicity

not specified
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, type 1
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Condition: not provided
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8486455

rs_368649260

5 SubmittersRCV000218790 RCV000398510 RCV000310146 RCV000364871 RCV000368229 RCV000679393 RCV002255320

NM_001042492.3(NF1):c.7439A>G (p.His2480Arg)

SNV
Germline

Chr17:31350300

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Neurofibromatosis, type 1
Condition: not provided
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8487571

rs_371151718

6 SubmittersRCV000216591 RCV000217787 RCV000693913 RCV001778803 RCV002500714 RCV004558466

NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter)

SNV
Germline

Chr17:31206297

Pathogenic

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Condition: not provided
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Abnormality of the skin
Neurofibrmatosis type 1
Juvenile myelomonocytic leukemia

Criteria Provided
Multiple Submitters
No Conflicts

CA8485754

rs_778405030

18 SubmittersRCV000213237 RCV000225855 RCV000519956 RCV000762984 RCV001814122 RCV003315237 RCV003469010

NM_001042492.3(NF1):c.2023G>A (p.Gly675Arg)

SNV
Germline

Chr17:31226456

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Condition: not provided
Neurofibromatosis, familial spinal

Criteria Provided
Conflicting Classifications

CA10580240

rs_779546178

5 SubmittersRCV000213385 RCV000559747 RCV001125813 RCV001125815 RCV002415908 RCV000681229 RCV001125814

NM_001042492.3(NF1):c.2158C>T (p.Arg720Trp)

SNV
Germline

Chr17:31226591

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1

Criteria Provided
Conflicting Classifications

CA8485918

rs_759679443

5 SubmittersRCV000220091 RCV000465439 RCV001775692 RCV002415909 RCV002500735

NM_001042492.3(NF1):c.3303G>A (p.Gln1101=)

SNV
Germline

Chr17:31232178

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, familial spinal
Café-au-lait macules with pulmonary stenosis
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA10580279

rs_876659944

6 SubmittersRCV000215735 RCV000632608 RCV001125914 RCV001125916 RCV001125915 RCV001589153 RCV001844092

NM_001042492.3(NF1):c.4055G>C (p.Ser1352Thr)

SNV
Germline

Chr17:31249064

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Condition: not provided
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Juvenile myelomonocytic leukemia
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
NF1-related disorder

Criteria Provided
Conflicting Classifications

CA10580306

rs_876660908

7 SubmittersRCV000220527 RCV000531590 RCV001589161 RCV002494600 RCV003463603 RCV004558579 RCV004547563

NM_001042492.3(NF1):c.4409G>A (p.Ser1470Asn)

SNV
Germline

Chr17:31259108

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Hereditary breast ovarian cancer syndrome
Neurofibromatosis, type 1
not specified
Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10580315

rs_876660093

8 SubmittersRCV000222235 RCV000764112 RCV001030575 RCV000632497 RCV001731450 RCV002478807 RCV004558547

NM_001042492.3(NF1):c.4412A>G (p.Asn1471Ser)

SNV
Germline

Chr17:31259111

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Condition: not provided
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Juvenile myelomonocytic leukemia
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10580316

rs_876658250

6 SubmittersRCV000218457 RCV000706280 RCV001762468 RCV002503866 RCV003468987 RCV004558472

NM_001042492.3(NF1):c.4462A>G (p.Thr1488Ala)

SNV
Germline

Chr17:31260400

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis

Criteria Provided
Conflicting Classifications

CA10580318

rs_876660162

5 SubmittersRCV000218722 RCV000476720 RCV000681188 RCV004558552 RCV002478809

NM_001042492.3(NF1):c.4943C>T (p.Thr1648Ile)

SNV
Germline

Chr17:31325927

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
not specified
Neurofibromatosis-Noonan syndrome
NF1-related disorder

Criteria Provided
Conflicting Classifications

CA8487120

rs_376655102

7 SubmittersRCV000221420 RCV000546921 RCV000681085 RCV002327095 RCV003114391 RCV003387812 RCV004547559

NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp)

SNV
Germline

Chr17:31326144

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Café-au-lait macules with pulmonary stenosis
not specified
Neurofibromatosis, type 1
Hereditary breast ovarian cancer syndrome
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, familial spinal
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8487141

rs_773378630

7 SubmittersRCV000219317 RCV000680828 RCV001126131 RCV000780547 RCV000460990 RCV001030578 RCV001126130 RCV001126132 RCV002338690

NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter)

SNV
Germline

Chr17:31335016

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA10580365

rs_876660696

7 SubmittersRCV000215669 RCV000660089 RCV000763391 RCV001797071

NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter)

SNV
Germline

Chr17:31352348

Pathogenic

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
not specified
Condition: not provided
Abnormality of the skin
Juvenile myelomonocytic leukemia
NF1-related disorder
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal

Criteria Provided
Multiple Submitters
No Conflicts

CA10580413

rs_866445127

24 SubmittersRCV000218957 RCV000457951 RCV000505900 RCV000579098 RCV001836756 RCV003469003 RCV003595895 RCV002494586

NM_001042492.3(NF1):c.8238T>G (p.Ile2746Met)

SNV
Germline

Chr17:31360564

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8487780

rs_779789452

5 SubmittersRCV000215281 RCV000230134 RCV002494592 RCV003165564

NM_007373.4(SHOC2):c.610A>G (p.Ile204Val)

SNV
Germline

Chr10:110964968

Conflicting classifications of pathogenicity

RASopathy
Noonan syndrome-like disorder with loose anagen hair 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA5689600

rs_200015085

5 SubmittersRCV000229898 RCV000314432 RCV000479328 RCV001174950

NM_005188.4(CBL):c.2036+9G>T

SNV
Germline

Chr11:119287955

Conflicting classifications of pathogenicity

Condition: not provided
not specified
RASopathy
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Conflicting Classifications

CA6318655

rs_142704935

6 SubmittersRCV000513712 RCV000615610 RCV001079807 RCV001813433

NM_152594.3(SPRED1):c.1005C>T (p.Cys335=)

SNV
Germline

Chr15:38351334

Conflicting classifications of pathogenicity

Legius syndrome
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7470218

rs_768937237

4 SubmittersRCV001505311 RCV001813434 RCV003165655 RCV003401189

NM_001042492.3(NF1):c.169G>A (p.Gly57Ser)

SNV
Germline

Chr17:31156091

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Hereditary cancer-predisposing syndrome
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Hereditary cancer
NF1-related disorder

Criteria Provided
Conflicting Classifications

CA8485485

rs_779727341

11 SubmittersRCV000234251 RCV000564586 RCV000765342 RCV000996514 RCV002311333 RCV003491998 RCV004547596

NM_001042492.3(NF1):c.1866T>C (p.Cys622=)

SNV
Germline

Chr17:31225115

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Hereditary cancer-predisposing syndrome
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, familial spinal
Café-au-lait macules with pulmonary stenosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8485875

rs_753245823

4 SubmittersRCV000231851 RCV000561704 RCV001122062 RCV001122063 RCV001122064 RCV001711623

NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)

SNV
Germline

Chr2:28776944

Pathogenic

Condition: not provided
Noonan syndrome-like disorder with loose anagen hair 2
Inborn genetic diseases
Noonan syndrome
Dandy-Walker syndrome
Neurodevelopmental delay

Criteria Provided
Multiple Submitters
No Conflicts

CA10586682

rs_886037952

24 SubmittersRCV000257986 RCV000490622 RCV001265940 RCV001251211 RCV001257999 RCV002274002

NM_002709.3(PPP1CB):c.548A>C (p.Glu183Ala)

SNV
Germline

Chr2:28783934

Pathogenic

Noonan syndrome-like disorder with loose anagen hair 2
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA10586683

rs_886037954

4 SubmittersRCV000490621 RCV001731461 RCV004020993

NM_002709.3(PPP1CB):c.548A>T (p.Glu183Val)

SNV
Germline

Chr2:28783934

Pathogenic

Condition: not provided
Noonan syndrome-like disorder with loose anagen hair 2

Criteria Provided
Single Submitter

CA10586684

rs_886037954

2 SubmittersRCV000257978 RCV000490623

NM_002709.3(PPP1CB):c.820G>A (p.Glu274Lys)

SNV
Germline

Chr2:28793938

Conflicting classifications of pathogenicity

Noonan syndrome-like disorder with loose anagen hair 2
Condition: not provided
PPP1CB-related disorder

Criteria Provided
Conflicting Classifications

CA10586686

rs_886037955

3 SubmittersRCV000490625 RCV003985764 RCV003909879

NM_002880.4(RAF1):c.853A>G (p.Ser285Gly)

SNV
Germline

Chr3:12600397

Conflicting classifications of pathogenicity

Cardiovascular phenotype
RASopathy
Noonan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2259660

rs_150054973

4 SubmittersRCV000250580 RCV000477169 RCV001261034 RCV001568261

NM_006912.6(RIT1):c.270G>T (p.Met90Ile)

SNV
Germline

Chr1:155904470

Pathogenic

Condition: not provided
Noonan syndrome 8
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA10588268

rs_483352822

7 SubmittersRCV000255338 RCV000722172 RCV001267162

NM_002880.4(RAF1):c.505G>C (p.Gly169Arg)

SNV
Germline

Chr3:12608842

Pathogenic/Likely pathogenic

Condition: not provided
LEOPARD syndrome 2
Noonan syndrome 5
Noonan syndrome
RASopathy
LEOPARD syndrome 2
Noonan syndrome 5
Dilated cardiomyopathy 1NN

Criteria Provided
Multiple Submitters
No Conflicts

CA10588350

rs_886039607

4 SubmittersRCV000255759 RCV000576681 RCV001261029 RCV001859486 RCV003224248

NM_002834.5(PTPN11):c.1520C>A (p.Thr507Lys)

SNV
Germline

Chr12:112489096

Pathogenic/Likely pathogenic

Condition: not provided
Non-immune hydrops fetalis
Noonan syndrome 1
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10588540

rs_886039463

4 SubmittersRCV000255951 RCV001376031 RCV001330779 RCV001813438

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_006912.6(RIT1):c.634C>T (p.Arg212Trp)

SNV
Germline

Chr1:155900414

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome 8
not specified
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1151760

rs_563231684

6 SubmittersRCV000373670 RCV001342293 RCV001174993 RCV001813440 RCV002365291

NM_006912.6(RIT1):c.365G>T (p.Arg122Leu)

SNV
Germline

Chr1:155904375

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome 8
Noonan syndrome 8
Megalencephaly-capillary malformation-polymicrogyria syndrome
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Conflicting Classifications

CA10602738

rs_777520196

4 SubmittersRCV000357501 RCV001037285 RCV002051722 RCV001813444

NM_006912.6(RIT1):c.259G>C (p.Asp87His)

SNV
Germline

Chr1:155904481

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome and Noonan-related syndrome
Noonan syndrome 8

Criteria Provided
Conflicting Classifications

CA10602741

rs_886041414

3 SubmittersRCV000278934 RCV001813441 RCV001855060

NM_005633.4(SOS1):c.1626A>G (p.Ile542Met)

SNV
Germline

Chr2:39022802

Conflicting classifications of pathogenicity

Condition: not provided
RASopathy
Noonan syndrome 4
Fibromatosis, gingival, 1

Criteria Provided
Conflicting Classifications

CA1624573

rs_746798986

3 SubmittersRCV000373537 RCV001859538 RCV002467708 RCV002467707

NM_005633.4(SOS1):c.1574T>C (p.Ile525Thr)

SNV
Germline

Chr2:39022854

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome 4
RASopathy
Fibromatosis, gingival, 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1624579

rs_146722878

5 SubmittersRCV000350752 RCV000578082 RCV001051525 RCV002467700 RCV003165717

NM_005633.4(SOS1):c.3148A>G (p.Met1050Val)

SNV
Germline

Chr2:38995321

Conflicting classifications of pathogenicity

Condition: not provided
Fibromatosis, gingival, 1
Noonan syndrome 4
RASopathy

Criteria Provided
Conflicting Classifications

CA10602858

rs_886041814

3 SubmittersRCV000397079 RCV002487177 RCV002519060

NM_005633.4(SOS1):c.2227G>C (p.Ala743Pro)

SNV
Germline

Chr2:39012289

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Noonan syndrome 4
Fibromatosis, gingival, 1
RASopathy

Criteria Provided
Conflicting Classifications

CA1624439

rs_759584440

4 SubmittersRCV000328656 RCV002429208 RCV002467702 RCV002467701 RCV002519046

NM_006939.4(SOS2):c.2978A>T (p.Asn993Ile)

SNV
Germline

Chr14:50134220

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA7176895

rs_776000121

3 SubmittersRCV000261274 RCV001855076 RCV002436096

NM_005188.4(CBL):c.1942A>C (p.Ser648Arg)

SNV
Germline

Chr11:119287852

Conflicting classifications of pathogenicity

Condition: not provided
RASopathy
not specified
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6318645

rs_143264567

6 SubmittersRCV000361702 RCV001089369 RCV001192739 RCV001813442 RCV004021064

NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter)

SNV
Germline

Chr17:31229061

Pathogenic

Neurofibromatosis, type 1
Condition: not provided
6 conditions
Juvenile myelomonocytic leukemia
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Juvenile myelomonocytic leukemia

Criteria Provided
Multiple Submitters
No Conflicts

CA10603442

rs_886041347

18 SubmittersRCV000497042 RCV000376782 RCV000626642 RCV000762986 RCV002311233 RCV003469215

NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu)

SNV
Germline

Chr15:66436777

Pathogenic

Condition: not provided
Cardiofaciocutaneous syndrome 3
Noonan syndrome 1
Cardiofaciocutaneous syndrome 3
RASopathy

Reviewed By Expert Panel

CA10603467

rs_727504819

4 SubmittersRCV000388257 RCV000763976 RCV001027695 RCV001250384

NM_005633.4(SOS1):c.3387C>T (p.Gly1129=)

SNV
Germline

Chr2:38989274

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome
Cardiovascular phenotype
RASopathy

Criteria Provided
Conflicting Classifications

CA1624200

rs_772823827

4 SubmittersRCV000307912 RCV001775112 RCV002450823 RCV001079080

NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)

SNV
Germline

Chr22:20992304

Pathogenic/Likely pathogenic

Condition: not provided
Short stature
Schwannomatosis 2
Noonan syndrome 10
Schwannomatosis
Noonan syndrome 2
Schwannomatosis 2
Noonan syndrome and Noonan-related syndrome
Noonan syndrome 10
See cases
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10118715

rs_189150283

14 SubmittersRCV000329167 RCV000736158 RCV000763074 RCV001193024 RCV001706423 RCV001799649 RCV001813447 RCV003387519 RCV002252087 RCV002429235

NM_005633.4(SOS1):c.1820T>C (p.Ile607Thr)

SNV
Germline

Chr2:39022608

Conflicting classifications of pathogenicity

Condition: not provided
RASopathy
Primary dilated cardiomyopathy
Fibromatosis, gingival, 1
Noonan syndrome 4

Criteria Provided
Conflicting Classifications

CA1624546

rs_758699499

5 SubmittersRCV000589437 RCV001240108 RCV001543366 RCV002467721 RCV002467722

NM_002524.5(NRAS):c.*2805T>C

SNV
Germline

Chr1:114705289

Conflicting classifications of pathogenicity

Noonan syndrome 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10607584

rs_776606789

2 SubmittersRCV000304039 RCV003409429

NM_002524.5(NRAS):c.*2513T>A

SNV
Germline

Chr1:114705581

Conflicting classifications of pathogenicity

Noonan syndrome 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10607593

rs_150969241

2 SubmittersRCV000316496 RCV003409430

NM_002524.5(NRAS):c.*111A>G

SNV
Germline

Chr1:114707983

Conflicting classifications of pathogenicity

Noonan syndrome 6
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10607700

rs_188272768

2 SubmittersRCV000317051 RCV003409431

NM_005633.4(SOS1):c.*1309A>G

SNV
Germline

Chr2:38984515

Conflicting classifications of pathogenicity

Noonan syndrome 4
Fibromatosis, gingival, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10613329

rs_145273962

2 SubmittersRCV000295055 RCV000352163 RCV002263611

NM_005633.4(SOS1):c.*1303C>A

SNV
Germline

Chr2:38984521

Conflicting classifications of pathogenicity

Fibromatosis, gingival, 1
Noonan syndrome 4
Fibromatosis, gingival, 1
Noonan syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10613332

rs_115153488

3 SubmittersRCV000312429 RCV000394415 RCV002504135 RCV003422317

NM_005633.4(SOS1):c.3709C>G (p.Pro1237Ala)

SNV
Germline

Chr2:38986117

Conflicting classifications of pathogenicity

Fibromatosis, gingival, 1
Noonan syndrome 4
RASopathy
Fibromatosis, gingival, 1
Noonan syndrome 4
not specified
Noonan syndrome
Condition: not provided
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1624123

rs_371408734

9 SubmittersRCV000345549 RCV000379826 RCV000525329 RCV000764404 RCV001175064 RCV001261115 RCV001590981 RCV001813466 RCV002348087

NM_005633.4(SOS1):c.865-4T>C

SNV
Germline

Chr2:39035504

Conflicting classifications of pathogenicity

Noonan syndrome 4
Fibromatosis, gingival, 1
RASopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1624693

rs_750788947

3 SubmittersRCV000308567 RCV000398670 RCV001448293 RCV002374579

NM_005633.4(SOS1):c.*758A>T

SNV
Germline

Chr2:38985066

Conflicting classifications of pathogenicity

Noonan syndrome 4
Fibromatosis, gingival, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10613814

rs_182650589

2 SubmittersRCV000293094 RCV000389666 RCV002292533

NM_005633.4(SOS1):c.2121T>C (p.Asp707=)

SNV
Germline

Chr2:39013506

Conflicting classifications of pathogenicity

Fibromatosis, gingival, 1
Noonan syndrome 4
RASopathy

Criteria Provided
Conflicting Classifications

CA1624462

rs_571408451

2 SubmittersRCV000325236 RCV000382206 RCV003654253

NM_005633.4(SOS1):c.*4023T>C

SNV
Germline

Chr2:38981801

Conflicting classifications of pathogenicity

Noonan syndrome 4
Fibromatosis, gingival, 1
Condition: not provided
Fibromatosis, gingival, 1
Noonan syndrome 4

Criteria Provided
Conflicting Classifications

CA10615198

rs_1043800

3 SubmittersRCV000282540 RCV000337391 RCV002292532 RCV002487491

NM_005633.4(SOS1):c.*3451A>T

SNV
Germline

Chr2:38982373

Conflicting classifications of pathogenicity

Noonan syndrome 4
Fibromatosis, gingival, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10615204

rs_78411167

2 SubmittersRCV000316123 RCV000389301 RCV003221934

NM_005633.4(SOS1):c.*534C>T

SNV
Germline

Chr2:38985290

Conflicting classifications of pathogenicity

Fibromatosis, gingival, 1
Noonan syndrome 4
Fibromatosis, gingival, 1
Noonan syndrome 4
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10615222

rs_773935049

3 SubmittersRCV000343552 RCV000401021 RCV002487492 RCV003409534

NM_005633.4(SOS1):c.3347-3C>T

SNV
Germline

Chr2:38989317

Conflicting classifications of pathogenicity

Noonan syndrome 4
Fibromatosis, gingival, 1
Condition: not provided
RASopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1624206

rs_779326746

4 SubmittersRCV000334367 RCV000395664 RCV001683343 RCV002057695 RCV002323542

NM_002880.4(RAF1):c.*190G>A

SNV
Germline

Chr3:12584324

Conflicting classifications of pathogenicity

Noonan syndrome 5
LEOPARD syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10617117

rs_528863135

2 SubmittersRCV000328835 RCV000364960 RCV003430874

NM_002880.4(RAF1):c.21T>C (p.Ala7=)

SNV
Germline

Chr3:12618701

Conflicting classifications of pathogenicity

Noonan syndrome 5
LEOPARD syndrome 2
Condition: not provided
RASopathy
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10617130

rs_886057915

5 SubmittersRCV000308393 RCV000359991 RCV000419856 RCV002057831 RCV002469135 RCV003298399

NM_004333.6(BRAF):c.981-14C>A

SNV
Germline

Chr7:140794481

Conflicting classifications of pathogenicity

Noonan syndrome 7
LEOPARD syndrome 3
Condition: not provided
RASopathy

Criteria Provided
Conflicting Classifications

CA4516837

rs_200002171

3 SubmittersRCV000262789 RCV000357486 RCV000438700 RCV002058654

NM_007373.4(SHOC2):c.*404A>G

SNV
Germline

Chr10:111012222

Conflicting classifications of pathogenicity

Noonan syndrome-like disorder with loose anagen hair 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10631028

rs_539394184

2 SubmittersRCV000289452 RCV003422221

NM_033360.4(KRAS):c.*3766A>G

SNV
Germline

Chr12:25206150

Conflicting classifications of pathogenicity

Noonan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10632461

rs_529959450

2 SubmittersRCV000323830 RCV003311746

NM_033360.4(KRAS):c.*525T>C

SNV
Germline

Chr12:25209391

Conflicting classifications of pathogenicity

Noonan syndrome
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Conflicting Classifications

CA10632489

rs_140080026

2 SubmittersRCV000357342 RCV001813462

NM_007373.4(SHOC2):c.774A>G (p.Gly258=)

SNV
Germline

Chr10:110985698

Conflicting classifications of pathogenicity

Noonan syndrome-like disorder with loose anagen hair 1
RASopathy

Criteria Provided
Conflicting Classifications

CA5689635

rs_753237615

2 SubmittersRCV000318357 RCV003654250

NM_007373.4(SHOC2):c.*656C>G

SNV
Germline

Chr10:111012474

Conflicting classifications of pathogenicity

Noonan syndrome-like disorder with loose anagen hair 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10634974

rs_557334390

2 SubmittersRCV000392113 RCV003422222

NM_002834.5(PTPN11):c.*325G>A

SNV
Germline

Chr12:112506117

Conflicting classifications of pathogenicity

LEOPARD syndrome 1
Noonan syndrome 1
Metachondromatosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10636514

rs_192080780

2 SubmittersRCV000264960 RCV000322269 RCV000379260 RCV003311745

NM_033360.4(KRAS):c.*4619T>C

SNV
Germline

Chr12:25205297

Conflicting classifications of pathogenicity

Noonan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10637049

rs_768891600

2 SubmittersRCV000285443 RCV003391091

NM_033360.4(KRAS):c.*4549G>C

SNV
Germline

Chr12:25205367

Conflicting classifications of pathogenicity

Noonan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10637054

rs_545014897

2 SubmittersRCV000303274 RCV003391092

NM_001042492.3(NF1):c.1649T>C (p.Leu550Pro)

SNV
Germline

Chr17:31221857

Conflicting classifications of pathogenicity

Café-au-lait macules with pulmonary stenosis
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal

Criteria Provided
Conflicting Classifications

CA10639323

rs_886052798

2 SubmittersRCV000263054 RCV000277617 RCV000318328 RCV000354441

NM_001042492.3(NF1):c.4530A>G (p.Leu1510=)

SNV
Germline

Chr17:31260468

Conflicting classifications of pathogenicity

Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10639326

rs_876660089

3 SubmittersRCV000281260 RCV000313579 RCV000336185 RCV000398129 RCV004558617

NM_001042492.3(NF1):c.*1899A>G

SNV
Germline

Chr17:31376054

Conflicting classifications of pathogenicity

Neurofibromatosis, familial spinal
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10639346

rs_547663480

2 SubmittersRCV000267334 RCV000317828 RCV000362061 RCV000372073 RCV003422283

NM_033360.4(KRAS):c.*1826C>G

SNV
Germline

Chr12:25208090

Conflicting classifications of pathogenicity

Noonan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10640721

rs_539213224

2 SubmittersRCV000391802 RCV003391095

NM_033360.4(KRAS):c.*671C>T

SNV
Germline

Chr12:25209245

Conflicting classifications of pathogenicity

Noonan syndrome
Noonan syndrome and Noonan-related syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6486810

rs_566222739

3 SubmittersRCV000290817 RCV001813460 RCV003391096

NM_033360.4(KRAS):c.*16T>C

SNV
Germline

Chr12:25209900

Conflicting classifications of pathogenicity

Noonan syndrome
RASopathy

Criteria Provided
Conflicting Classifications

CA6486829

rs_779184057

2 SubmittersRCV000334701 RCV002056286

NM_033360.4(KRAS):c.*4036A>G

SNV
Germline

Chr12:25205880

Conflicting classifications of pathogenicity

Noonan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10641641

rs_886049179

2 SubmittersRCV000283545 RCV003391093

NM_033360.4(KRAS):c.*3672C>G

SNV
Germline

Chr12:25206244

Conflicting classifications of pathogenicity

Noonan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10641646

rs_188922523

2 SubmittersRCV000284910 RCV003391094

NM_152594.3(SPRED1):c.963G>A (p.Lys321=)

SNV
Germline

Chr15:38351292

Conflicting classifications of pathogenicity

Legius syndrome
Condition: not provided
not specified
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA7470212

rs_369711772

6 SubmittersRCV000334493 RCV000681293 RCV001193310 RCV001813464 RCV002379194

NM_001042492.3(NF1):c.1846-8T>A

SNV
Germline

Chr17:31225087

Conflicting classifications of pathogenicity

Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal

Criteria Provided
Conflicting Classifications

CA10648992

rs_886052799

2 SubmittersRCV000289328 RCV000344366 RCV000394022 RCV000383785

NM_001042492.3(NF1):c.3891A>G (p.Leu1297=)

SNV
Germline

Chr17:31235938

Conflicting classifications of pathogenicity

Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8486267

rs_753036396

3 SubmittersRCV000284530 RCV000339512 RCV000379101 RCV000398138 RCV002314054

NM_001042492.3(NF1):c.6630G>A (p.Leu2210=)

SNV
Germline

Chr17:31337570

Conflicting classifications of pathogenicity

Café-au-lait macules with pulmonary stenosis
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10648997

rs_886052801

3 SubmittersRCV000290911 RCV000348182 RCV000381585 RCV000387582 RCV002356444

NM_006912.6(RIT1):c.246T>A (p.Phe82Leu)

SNV
Germline

Chr1:155904494

Pathogenic

Noonan syndrome 8
Condition: not provided
Noonan syndrome 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA16040628

rs_730881014

6 SubmittersRCV000408903 RCV000427451 RCV000856765 RCV003372696

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

SNV
Germline/somatic

Chr1:114713907

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16042285

rs_121913255

3 SubmittersRCV000414646 RCV000418758 RCV000419887 RCV000420910 RCV000420139 RCV000424220 RCV000422093 RCV000427364 RCV000428418 RCV000436881 RCV000429704 RCV000438233 RCV000431603 RCV000434043 RCV000437158 RCV000444600 RCV000429512 RCV000439006 RCV000439308 RCV001813470

NM_006912.6(RIT1):c.245T>G (p.Phe82Cys)

SNV
Germline

Chr1:155904495

Pathogenic

Condition: not provided
Noonan syndrome 8
RIT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16042308

rs_868208063

4 SubmittersRCV000413610 RCV001782888 RCV003418096

NM_005633.4(SOS1):c.1654A>T (p.Arg552Trp)

SNV
Germline

Chr2:39022774

Likely pathogenic

Noonan syndrome and Noonan-related syndrome
Condition: not provided

Reviewed By Expert Panel

CA16042455

rs_137852814

3 SubmittersRCV000787999 RCV000414145

NM_005633.4(SOS1):c.3905T>C (p.Ile1302Thr)

SNV
Germline

Chr2:38985921

Conflicting classifications of pathogenicity

not specified
RASopathy
Condition: not provided
Fibromatosis, gingival, 1
Noonan syndrome 4
Noonan syndrome 4
Fibromatosis, gingival, 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1624097

rs_750296853

5 SubmittersRCV000414348 RCV000465195 RCV001591049 RCV002467768 RCV002467769 RCV002488849 RCV004022159

NM_007373.4(SHOC2):c.517A>G (p.Met173Val)

SNV
Germline

Chr10:110964875

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome-like disorder with loose anagen hair 1
SHOC2-related disorder
RASopathy

Criteria Provided
Conflicting Classifications

CA16042684

rs_1057518206

6 SubmittersRCV000413825 RCV001584108 RCV002272224 RCV003922677 RCV003539878

NM_004333.6(BRAF):c.437G>A (p.Arg146Gln)

SNV
Germline

Chr7:140834676

Conflicting classifications of pathogenicity

not specified
LEOPARD syndrome 3
Noonan syndrome 7
Lung carcinoma
Noonan syndrome 1
Cardiofaciocutaneous syndrome 1
RASopathy
Cardiofaciocutaneous syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4516972

rs_557241012

6 SubmittersRCV000413361 RCV000764692 RCV000654945 RCV001329217 RCV001718803

NM_006939.4(SOS2):c.674G>A (p.Arg225Gln)

SNV
Germline

Chr14:50188537

Conflicting classifications of pathogenicity

not specified
Noonan syndrome 9
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7177479

rs_780580623

6 SubmittersRCV000412844 RCV000693191 RCV002365451 RCV003884517

NM_002834.5(PTPN11):c.931A>G (p.Met311Val)

SNV
Germline

Chr12:112477728

Conflicting classifications of pathogenicity

not specified
RASopathy
Cardiovascular phenotype
Metachondromatosis
LEOPARD syndrome 1
Noonan syndrome 1
Juvenile myelomonocytic leukemia
PTPN11-related disorder

Criteria Provided
Conflicting Classifications

CA6798676

rs_774939392

6 SubmittersRCV000412738 RCV000701867 RCV002318367 RCV002481274 RCV004544723

NM_006939.4(SOS2):c.800T>C (p.Met267Thr)

SNV
Germline

Chr14:50182521

Pathogenic

Condition: not provided
Noonan syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

CA16021010

rs_797045167

4 SubmittersRCV000414175 RCV001250768

NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys)

SNV
Germline

Chr22:20992878

Conflicting classifications of pathogenicity

not specified
Schwannomatosis 2
Noonan syndrome 10
Condition: not provided
Non-immune hydrops fetalis
Noonan syndrome and Noonan-related syndrome
RASopathy
LZTR1-related disorder
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA501019

rs_747430075

13 SubmittersRCV000413186 RCV000765613 RCV000788318 RCV001375986 RCV001813471 RCV003327295 RCV004530516 RCV004559048

NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser)

SNV
Germline/somatic

Chr15:66436824

Pathogenic

Transitional cell carcinoma of the bladder
Melanoma
Malignant melanoma of skin
Neoplasm of the large intestine
Condition: not provided
Malignant neoplasm of body of uterus
Noonan syndrome
Cardiofaciocutaneous syndrome 3
RASopathy

Reviewed By Expert Panel

CA16602456

rs_1057519732

6 SubmittersRCV000426713 RCV000433235 RCV000443916 RCV000444865 RCV000482718 RCV000433927 RCV000824936 RCV000989347 RCV001250385

NM_004333.6(BRAF):c.1397G>A (p.Gly466Glu)

SNV
Germline/somatic

Chr7:140781611

Conflicting classifications of pathogenicity

Neoplasm of the large intestine
Squamous cell carcinoma of the head and neck
Lung adenocarcinoma
Multiple myeloma
Squamous cell lung carcinoma
Melanoma
Malignant melanoma of skin
RASopathy
Noonan syndrome 7

Criteria Provided
Conflicting Classifications

CA16602535

rs_121913351

3 SubmittersRCV000424079 RCV000427285 RCV000434755 RCV000431475 RCV000437081 RCV000443232 RCV000442274 RCV001861476 RCV003128083

NM_005343.4(HRAS):c.183G>T (p.Gln61His)

SNV
Germline/somatic

Chr11:533873

Likely pathogenic

Transitional cell carcinoma of the bladder
Neoplasm
Breast neoplasm
Malignant melanoma of skin
Prostate adenocarcinoma
Squamous cell carcinoma of the head and neck
Thyroid tumor
Lung adenocarcinoma
Squamous cell lung carcinoma
Squamous cell carcinoma of the skin
Noonan syndrome 3

Criteria Provided
Single Submitter

CA16602764

rs_121913496

2 SubmittersRCV000421964 RCV000420806 RCV000423449 RCV000424686 RCV000433734 RCV000433099 RCV000434965 RCV000440259 RCV000442468 RCV000444731 RCV000589258

NM_006218.4(PIK3CA):c.1034A>C (p.Asn345Thr)

SNV
Germline/somatic

Chr3:179203764

Pathogenic

Lung adenocarcinoma
Prostate adenocarcinoma
Neoplasm of the large intestine
Uterine carcinosarcoma
Squamous cell carcinoma of the head and neck
Breast neoplasm
Adenoid cystic carcinoma
Glioblastoma
Malignant neoplasm of body of uterus
Gastric adenocarcinoma
Megalencephaly-capillary malformation-polymicrogyria syndrome
Noonan syndrome 8

Criteria Provided
Single Submitter

CA16602923

rs_1057519938

2 SubmittersRCV000417579 RCV000422347 RCV000421685 RCV000428271 RCV000428856 RCV000433058 RCV000438925 RCV000439528 RCV000438272 RCV000444032 RCV002051723

NM_005633.4(SOS1):c.697A>T (p.Asn233Tyr)

SNV
Somatic

Chr2:39054637

Likely pathogenic

Malignant neoplasm of body of uterus
Lung adenocarcinoma
Noonan syndrome 4

Criteria Provided
Single Submitter

CA16602968

rs_1057519963

2 SubmittersRCV000425749 RCV000444257 RCV003322604

NM_006939.4(SOS2):c.3235A>G (p.Thr1079Ala)

SNV
Germline

Chr14:50130603

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA7176854

rs_61755576

4 SubmittersRCV000429991 RCV000607638 RCV000652817 RCV003168619

NM_005188.4(CBL):c.195+3G>A

SNV
Germline

Chr11:119206615

Conflicting classifications of pathogenicity

not specified
RASopathy
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6318236

rs_762062705

4 SubmittersRCV000436652 RCV001222390 RCV001813473 RCV002418246

NM_001042492.3(NF1):c.681T>C (p.Tyr227=)

SNV
Germline

Chr17:31181736

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, familial spinal

Criteria Provided
Conflicting Classifications

CA8485606

rs_745804540

4 SubmittersRCV000420850 RCV000573159 RCV001080031 RCV001124638 RCV001124639 RCV001124640

NM_005633.4(SOS1):c.675T>G (p.Val225=)

SNV
Germline

Chr2:39054659

Conflicting classifications of pathogenicity

RASopathy
Noonan syndrome 4
Fibromatosis, gingival, 1
Condition: not provided
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA1624749

rs_371482290

5 SubmittersRCV000476885 RCV001138838 RCV001138839 RCV001712321 RCV002367617 RCV002509398

NM_004333.6(BRAF):c.2196C>G (p.Ser732=)

SNV
Germline

Chr7:140734702

Conflicting classifications of pathogenicity

not specified
Condition: not provided
LEOPARD syndrome 3
Noonan syndrome 7
RASopathy
Cardiovascular phenotype
BRAF-related disorder

Criteria Provided
Conflicting Classifications

CA4516523

rs_142592480

7 SubmittersRCV000825118 RCV000475603 RCV001164394 RCV001159453 RCV001468343 RCV002431383 RCV003932773

NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter)

SNV
Germline

Chr17:31201471

Pathogenic

Neurofibromatosis, type 1
Condition: not provided
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Neurofibromatosis-Noonan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA8485718

rs_764079291

17 SubmittersRCV000467266 RCV000484297 RCV002502604 RCV002393083 RCV003483615

NM_001042492.3(NF1):c.289-6T>C

SNV
Germline

Chr17:31163180

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal

Criteria Provided
Conflicting Classifications

CA8485527

rs_757074803

2 SubmittersRCV000470904 RCV002481367

NM_001042492.3(NF1):c.6006+4T>C

SNV
Germline

Chr17:31335035

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8487280

rs_754909198

3 SubmittersRCV000471544 RCV001122487 RCV001122485 RCV001122486 RCV002318514

NM_001042492.3(NF1):c.7110C>T (p.His2370=)

SNV
Germline

Chr17:31343056

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8487498

rs_201881479

3 SubmittersRCV000469298 RCV001126343 RCV001126344 RCV001126345 RCV002318545

NM_001042492.3(NF1):c.7323T>G (p.Ala2441=)

SNV
Germline

Chr17:31350184

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis

Criteria Provided
Conflicting Classifications

CA8487558

rs_765750009

4 SubmittersRCV001084903 RCV000681206 RCV002418439 RCV001839001

NM_001042492.3(NF1):c.7457+8G>T

SNV
Germline

Chr17:31350326

Conflicting classifications of pathogenicity

Condition: not provided
Neurofibromatosis, type 1
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, familial spinal

Criteria Provided
Conflicting Classifications

CA8487574

rs_376147282

3 SubmittersRCV000679412 RCV001083459 RCV001128391 RCV001128392 RCV001128393

NM_006939.4(SOS2):c.3584C>T (p.Ala1195Val)

SNV
Germline

Chr14:50118759

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA7176746

rs_753151750

4 SubmittersRCV000486673 RCV000652813 RCV002455928

NM_006767.4(LZTR1):c.2387T>C (p.Ile796Thr)

SNV
Germline

Chr22:20996947

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome 2
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Schwannomatosis 2

Criteria Provided
Conflicting Classifications

CA10119384

rs_141672122

5 SubmittersRCV000481440 RCV001507320 RCV002455940 RCV003470588

NM_002709.3(PPP1CB):c.166G>C (p.Ala56Pro)

SNV
Germline

Chr2:28776964

Pathogenic

Noonan syndrome-like disorder with loose anagen hair 2

No Assertion Criteria Provided

CA346581171

rs_1114167429

1 SubmittersRCV000490624

NM_001042492.3(NF1):c.1849G>A (p.Ala617Thr)

SNV
Germline

Chr17:31225098

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1

Criteria Provided
Conflicting Classifications

CA399005015

rs_1131691135

5 SubmittersRCV000492708 RCV000686488 RCV002311259 RCV002475971

NM_001042492.3(NF1):c.3198-2A>G

SNV
Germline

Chr17:31232071

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis

Criteria Provided
Conflicting Classifications

CA398988490

rs_1131691089

7 SubmittersRCV000492183 RCV000660029 RCV002489203

NM_001042492.3(NF1):c.4195C>T (p.Gln1399Ter)

SNV
Germline

Chr17:31258365

Pathogenic

Hereditary cancer-predisposing syndrome
not specified
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia

Criteria Provided
Multiple Submitters
No Conflicts

CA398997588

rs_1131691072

6 SubmittersRCV000492460 RCV000507218 RCV001290878 RCV002496890

NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu)

SNV
Germline

Chr17:31327541

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA399009069

rs_1131691103

5 SubmittersRCV000492200 RCV000680829 RCV000632446 RCV002063855 RCV002341164

NM_001042492.3(NF1):c.6970C>T (p.Gln2324Ter)

SNV
Germline

Chr17:31340553

Pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Neurofibromatosis, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA399014940

rs_1131691073

5 SubmittersRCV000492525 RCV000657644 RCV000763394 RCV002275061

NM_033360.4(KRAS):c.440A>G (p.Lys147Arg)

SNV
Unknown

Chr12:25225624

Pathogenic

Noonan syndrome 3

Criteria Provided
Single Submitter

CA384151064

rs_1135401776

1 SubmittersRCV000496202

NM_002880.4(RAF1):c.601A>G (p.Ile201Val)

SNV
Germline

Chr3:12606280

Conflicting classifications of pathogenicity

RASopathy
Condition: not provided
LEOPARD syndrome 2
Dilated cardiomyopathy 1NN
Noonan syndrome 5
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA2259726

rs_757700986

4 SubmittersRCV000558397 RCV000498661 RCV000765707 RCV002356816

NM_006767.4(LZTR1):c.1904C>T (p.Pro635Leu)

SNV
Germline

Chr22:20994988

Conflicting classifications of pathogenicity

Noonan syndrome 10
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related disorder
Schwannomatosis 2

Criteria Provided
Conflicting Classifications

CA10119101

rs_148677674

8 SubmittersRCV000499922 RCV001454598 RCV001584206 RCV002413371 RCV004535572 RCV003494569

NM_005188.4(CBL):c.2513G>T (p.Gly838Val)

SNV
Germline

Chr11:119299573

Conflicting classifications of pathogenicity

not specified
RASopathy
Condition: not provided
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
CBL-related disorder
Juvenile myelomonocytic leukemia

Criteria Provided
Conflicting Classifications

CA6318799

rs_144191570

7 SubmittersRCV000500878 RCV000529564 RCV000761809 RCV001813486 RCV002438216 RCV002506221

NM_144670.6(A2ML1):c.1417G>T (p.Asp473Tyr)

SNV
Germline

Chr12:8843302

Conflicting classifications of pathogenicity

Noonan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6435646

rs_201950472

2 SubmittersRCV000503586 RCV001431314

NM_033360.4(KRAS):c.194G>T (p.Ser65Ile)

SNV
Germline

Chr12:25227330

Likely pathogenic

Noonan syndrome 3
RASopathy

Reviewed By Expert Panel

CA384152083

rs_1555194026

4 SubmittersRCV000505640 RCV000680027

NM_001042492.3(NF1):c.1185+2T>G

SNV
Germline

Chr17:31201161

Pathogenic

not specified
Neurofibromatosis, type 1
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis

Criteria Provided
Multiple Submitters
No Conflicts

CA398997367

rs_1555611043

4 SubmittersRCV000507799 RCV001070792 RCV001535580

NM_005633.4(SOS1):c.979A>G (p.Ile327Val)

SNV
Germline

Chr2:39035307

Conflicting classifications of pathogenicity

Noonan syndrome 4
RASopathy
Fibromatosis, gingival, 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1624669

rs_758546951

4 SubmittersRCV000511020 RCV001214798 RCV002467844 RCV002383990

NM_002709.3(PPP1CB):c.658C>T (p.Arg220Cys)

SNV
Germline

Chr2:28788723

Pathogenic/Likely pathogenic

Condition: not provided
Noonan syndrome-like disorder with loose anagen hair 2

Criteria Provided
Multiple Submitters
No Conflicts

CA346583250

rs_1553311527

2 SubmittersRCV000523298 RCV002470896

NM_004333.6(BRAF):c.755G>C (p.Arg252Pro)

SNV
Germline

Chr7:140801517

Conflicting classifications of pathogenicity

Condition: not provided
Global developmental delay
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Conflicting Classifications

CA369590811

rs_1325951163

3 SubmittersRCV000519768 RCV000626860 RCV001813496

NM_006767.4(LZTR1):c.2044A>G (p.Lys682Glu)

SNV
Germline

Chr22:20995847

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome 2
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10119206

rs_758472207

4 SubmittersRCV000520720 RCV001250477 RCV002420310

NM_005633.4(SOS1):c.305C>G (p.Pro102Arg)

SNV
Germline

Chr2:39058713

Pathogenic/Likely pathogenic

RASopathy
Condition: not provided
Noonan syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA346373860

rs_1553362937

3 SubmittersRCV000544063 RCV001591305 RCV002467898

NM_002880.4(RAF1):c.933C>T (p.Pro311=)

SNV
Germline

Chr3:12600209

Conflicting classifications of pathogenicity

RASopathy
Noonan syndrome 5
LEOPARD syndrome 2

Criteria Provided
Conflicting Classifications

CA432273960

rs_1553613022

2 SubmittersRCV000539869 RCV001150221 RCV001150222

NM_002880.4(RAF1):c.934G>A (p.Val312Met)

SNV
Germline

Chr3:12600208

Conflicting classifications of pathogenicity

RASopathy
not specified
LEOPARD syndrome 2
Noonan syndrome 5
Noonan syndrome and Noonan-related syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2259626

rs_555034652

6 SubmittersRCV000549949 RCV000587682 RCV001148650 RCV001148651 RCV001813505 RCV003223656

NM_002880.4(RAF1):c.264G>A (p.Val88=)

SNV
Germline

Chr3:12612006

Conflicting classifications of pathogenicity

RASopathy
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Conflicting Classifications

CA432277387

rs_1189963978

2 SubmittersRCV001433616 RCV001813504

NM_004333.6(BRAF):c.2127+7A>G

SNV
Germline

Chr7:140739805

Conflicting classifications of pathogenicity

RASopathy
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Conflicting Classifications

CA4516593

rs_371857758

2 SubmittersRCV000552800 RCV001813506

NM_002834.5(PTPN11):c.167T>C (p.Ile56Thr)

SNV
Germline

Chr12:112450347

Likely pathogenic

RASopathy
Noonan syndrome and Noonan-related syndrome

Reviewed By Expert Panel

CA243707917

rs_1052382672

2 SubmittersRCV000531774 RCV000788007

NM_006939.4(SOS2):c.2957G>A (p.Arg986Lys)

SNV
Germline

Chr14:50138613

Conflicting classifications of pathogenicity

Noonan syndrome 9
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA7176917

rs_772746106

4 SubmittersRCV000560702 RCV001779007 RCV002438486

NM_006939.4(SOS2):c.2384+5A>G

SNV
Germline

Chr14:50150003

Conflicting classifications of pathogenicity

Noonan syndrome 9
SOS2-related disorder

Criteria Provided
Conflicting Classifications

CA7177056

rs_376903120

3 SubmittersRCV000546804 RCV003962606

NM_001042492.3(NF1):c.61-9T>C

SNV
Germline

Chr17:31155974

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
not specified
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal

Criteria Provided
Conflicting Classifications

CA8485468

rs_780956522

4 SubmittersRCV000550804 RCV002271524 RCV002490967 RCV003316684

NM_001042492.3(NF1):c.2325+4T>C

SNV
Germline

Chr17:31227295

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, type 1
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Condition: not provided
NF1-related disorder

Criteria Provided
Conflicting Classifications

CA658656610

rs_1555613934

6 SubmittersRCV000535397 RCV002316496 RCV002483370 RCV004568735 RCV004553183

NM_001042492.3(NF1):c.3447G>T (p.Met1149Ile)

SNV
Germline

Chr17:31232832

Pathogenic/Likely pathogenic

Neurofibromatosis, type 1
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, type 1
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA398989305

rs_1064794277

6 SubmittersRCV000542239 RCV000762987 RCV001811032

NM_001042492.3(NF1):c.4578-2A>G

SNV
Germline

Chr17:31261709

Pathogenic

Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome

Criteria Provided
Single Submitter

CA399000076

rs_1555618996

2 SubmittersRCV000541202 RCV001542605

NM_001042492.3(NF1):c.2326-9T>A

SNV
Germline

Chr17:31227514

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Juvenile myelomonocytic leukemia
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis-Noonan syndrome

Criteria Provided
Conflicting Classifications

CA8485964

rs_181838967

2 SubmittersRCV000528687 RCV002476107

NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg)

SNV
Germline

Chr17:31227536

Pathogenic/Likely pathogenic

Neurofibromatosis, type 1
Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Juvenile myelomonocytic leukemia

Criteria Provided
Multiple Submitters
No Conflicts

CA398983055

rs_199474746

9 SubmittersRCV000553902 RCV000681848 RCV002448633 RCV002497068 RCV003459191

NM_001042492.3(NF1):c.2991-1G>C

SNV
Germline

Chr17:31230259

Pathogenic

Neurofibromatosis, type 1
Condition: not provided
Café-au-lait macules with pulmonary stenosis
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA398986497

rs_1060500273

3 SubmittersRCV000538864 RCV003318586 RCV002497070

NM_001042492.3(NF1):c.3374C>T (p.Ala1125Val)

SNV
Germline

Chr17:31232759

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
not specified
Hereditary cancer-predisposing syndrome
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Neurofibromatosis, familial spinal
Café-au-lait macules with pulmonary stenosis
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA289337975

rs_902739109

7 SubmittersRCV000535878 RCV001821508 RCV000563538 RCV002314930 RCV002483371 RCV002286748

NM_001042492.3(NF1):c.5344A>G (p.Ile1782Val)

SNV
Germline

Chr17:31327574

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, type 1
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal

Criteria Provided
Conflicting Classifications

CA399009225

rs_1160436761

5 SubmittersRCV000547255 RCV001597159 RCV002314936 RCV002476109

NM_001042492.3(NF1):c.3778A>G (p.Met1260Val)

SNV
Germline

Chr17:31235680

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, type 1
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal

Criteria Provided
Conflicting Classifications

CA398992568

rs_1264981144

4 SubmittersRCV000547272 RCV002314931 RCV002476108

NM_001042492.3(NF1):c.8456G>A (p.Ser2819Asn)

SNV
Germline

Chr17:31374091

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, type 1
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal

Criteria Provided
Conflicting Classifications

CA289712495

rs_934837854

6 SubmittersRCV000543184 RCV000679419 RCV002316525 RCV002483373

NM_001042492.3(NF1):c.3371G>A (p.Ser1124Asn)

SNV
Germline

Chr17:31232756

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Café-au-lait macules with pulmonary stenosis
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8486159

rs_374472758

5 SubmittersRCV000527707 RCV000764107 RCV001020116 RCV001574886 RCV002448634

NM_001042492.3(NF1):c.3544G>T (p.Val1182Phe)

SNV
Germline

Chr17:31233049

Pathogenic/Likely pathogenic

Neurofibromatosis, type 1
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA398989966

rs_1555615027

5 SubmittersRCV000544954 RCV001535486 RCV001571922 RCV003159753

NM_001042492.3(NF1):c.7456A>G (p.Arg2486Gly)

SNV
Germline

Chr17:31350317

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, type 1
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8487573

rs_752162999

4 SubmittersRCV000548130 RCV002483372 RCV002420369

NM_001042492.3(NF1):c.1392+5G>T

SNV
Germline

Chr17:31206376

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Neurofibromatosis-Noonan syndrome
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
NF1-related disorder

Criteria Provided
Conflicting Classifications

CA8485760

rs_199999754

4 SubmittersRCV000567066 RCV001124742 RCV001124744 RCV001124743 RCV001124741 RCV002311898 RCV004553255

NM_001042492.3(NF1):c.2378A>C (p.Asn793Thr)

SNV
Germline

Chr17:31227575

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, familial spinal
Café-au-lait macules with pulmonary stenosis
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8485967

rs_772543826

4 SubmittersRCV000691531 RCV001127934 RCV001127932 RCV001127933 RCV002317187 RCV003228960

NM_001042492.3(NF1):c.7780C>T (p.Arg2594Cys)

SNV
Germline

Chr17:31357001

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, type 1
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, familial spinal

Criteria Provided
Conflicting Classifications

CA8487663

rs_372787215

4 SubmittersRCV001040889 RCV002315758 RCV002491121

NM_001042492.3(NF1):c.8150C>T (p.Pro2717Leu)

SNV
Germline

Chr17:31359005

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Neurofibromatosis, type 1
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, type 1
Café-au-lait macules with pulmonary stenosis

Criteria Provided
Conflicting Classifications

CA8487759

rs_778799019

5 SubmittersRCV000572639 RCV000681184 RCV000804420 RCV002420548 RCV002476216

NM_001042492.3(NF1):c.4725-1G>A

SNV
Germline

Chr17:31265228

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Condition: not provided
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA399001138

rs_1555619391

5 SubmittersRCV000571686 RCV001092509 RCV001219651 RCV002491129

NM_002834.5(PTPN11):c.1579C>T (p.Arg527Cys)

SNV
Germline

Chr12:112489155

Conflicting classifications of pathogenicity

LEOPARD syndrome 1
Noonan syndrome 1
Metachondromatosis
Condition: not provided
Cardiovascular phenotype
RASopathy
not specified

Criteria Provided
Conflicting Classifications

CA6798810

rs_191525506

6 SubmittersRCV000577961 RCV000578115 RCV000578039 RCV001091428 RCV002404582 RCV001239106 RCV002222557

NM_002834.5(PTPN11):c.1599+4C>A

SNV
Germline

Chr12:112489179

Conflicting classifications of pathogenicity

Metachondromatosis
LEOPARD syndrome 1
RASopathy
Cardiovascular phenotype
Noonan syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6798812

rs_142606486

4 SubmittersRCV000578031 RCV000577953 RCV001860000 RCV003159973 RCV000578108 RCV001558688

NM_006939.4(SOS2):c.2161+10A>G

SNV
Germline

Chr14:50153060

Conflicting classifications of pathogenicity

Noonan syndrome 9
SOS2-related disorder

Criteria Provided
Conflicting Classifications

CA260731650

rs_201629454

3 SubmittersRCV000578097 RCV003900291

NM_001042492.3(NF1):c.6006+1G>A

SNV
Germline

Chr17:31335032

Pathogenic

Condition: not provided
Neurofibromatosis, type 1
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA399010982

rs_1555534433

5 SubmittersRCV000578724 RCV000693088 RCV000763392 RCV002350406

NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter)

SNV
Germline

Chr22:20992238

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Noonan syndrome 10
Schwannomatosis 2
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10118698

rs_149850248

13 SubmittersRCV000578630 RCV001805197 RCV001293930 RCV001310194 RCV002358639

NM_001042492.3(NF1):c.541C>T (p.Gln181Ter)

SNV
Germline

Chr17:31169952

Pathogenic

Neurofibromatosis, type 1
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Condition: not provided
Neurofibromatosis-Noonan syndrome
Juvenile myelomonocytic leukemia

Criteria Provided
Multiple Submitters
No Conflicts

CA398985168

rs_753529924

9 SubmittersRCV000583592 RCV002350411 RCV001007972 RCV002468589 RCV003465316

NM_005633.4(SOS1):c.755T>C (p.Ile252Thr)

SNV
Germline

Chr2:39051253

Conflicting classifications of pathogenicity

Condition: not provided
RASopathy
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1624725

rs_142094234

6 SubmittersRCV000586619 RCV001860141 RCV001813509 RCV002395507

NM_005633.4(SOS1):c.638G>A (p.Arg213Gln)

SNV
Germline

Chr2:39054696

Conflicting classifications of pathogenicity

Condition: not provided
SOS1-related disorder
Fibromatosis, gingival, 1
Noonan syndrome 4
RASopathy

Criteria Provided
Conflicting Classifications

CA1624754

rs_374761537

4 SubmittersRCV000586137 RCV003409858 RCV002483570 RCV002532352

NM_005633.4(SOS1):c.3724A>G (p.Ser1242Gly)

SNV
Germline

Chr2:38986102

Conflicting classifications of pathogenicity

Condition: not provided
RASopathy
Fibromatosis, gingival, 1
Noonan syndrome 4

Criteria Provided
Conflicting Classifications

CA346362449

rs_1293079271

3 SubmittersRCV000587660 RCV001867910 RCV002467909 RCV002467910

NM_002880.4(RAF1):c.788T>A (p.Val263Asp)

SNV
Germline

Chr3:12604182

Pathogenic/Likely pathogenic

Noonan syndrome 3
Condition: not provided
Noonan syndrome 5
LEOPARD syndrome 2
Dilated cardiomyopathy 1NN
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA351512308

rs_397516830

4 SubmittersRCV000586507 RCV000680804 RCV000763093 RCV002530926

NM_030662.4(MAP2K2):c.1176C>T (p.Pro392=)

SNV
Germline

Chr19:4090625

Conflicting classifications of pathogenicity

not specified
RASopathy
Condition: not provided
Cardiovascular phenotype
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Conflicting Classifications

CA9090688

rs_529064753

6 SubmittersRCV000604668 RCV001486600 RCV001706681 RCV003160002 RCV001813513

NM_001042492.3(NF1):c.1527+1G>A

SNV
Germline

Chr17:31214586

Pathogenic

Condition: not provided
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA399001711

rs_1060500331

6 SubmittersRCV000599578 RCV000632460 RCV003157734

NM_006912.6(RIT1):c.45C>G (p.Pro15=)

SNV
Germline

Chr1:155910717

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Noonan syndrome and Noonan-related syndrome
Noonan syndrome 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1151907

rs_748838734

5 SubmittersRCV000608640 RCV001562383 RCV001813515 RCV002062142 RCV002341540

NM_005633.4(SOS1):c.3859A>G (p.Ile1287Val)

SNV
Germline

Chr2:38985967

Conflicting classifications of pathogenicity

not specified
RASopathy
Cardiovascular phenotype
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Conflicting Classifications

CA1624103

rs_760917490

4 SubmittersRCV000616572 RCV001218007 RCV002358742 RCV001813530

NM_005633.4(SOS1):c.2671G>A (p.Glu891Lys)

SNV
Germline

Chr2:39007033

Conflicting classifications of pathogenicity

Noonan syndrome
Noonan syndrome 4
RASopathy

Criteria Provided
Conflicting Classifications

CA346363312

rs_1553353452

4 SubmittersRCV000612075 RCV002470931 RCV002529338

NM_002524.5(NRAS):c.432C>T (p.Thr144=)

SNV
Germline

Chr1:114709587

Conflicting classifications of pathogenicity

not specified
RASopathy
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1020709

rs_753079400

4 SubmittersRCV000603088 RCV002064335 RCV001813525 RCV002331082

NM_006912.6(RIT1):c.38G>A (p.Ser13Asn)

SNV
Germline

Chr1:155910724

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome 8
Noonan syndrome and Noonan-related syndrome
RIT1-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1151908

rs_145034964

5 SubmittersRCV001697491 RCV001860276 RCV001813519 RCV003420058 RCV002368057

NM_002880.4(RAF1):c.600T>C (p.Thr200=)

SNV
Germline

Chr3:12606281

Conflicting classifications of pathogenicity

not specified
LEOPARD syndrome 2
Noonan syndrome 5
RASopathy

Criteria Provided
Conflicting Classifications

CA2259727

rs_779808613

4 SubmittersRCV000616316 RCV001144314 RCV001144313 RCV001415257

NM_002880.4(RAF1):c.231C>T (p.Ser77=)

SNV
Germline

Chr3:12612039

Conflicting classifications of pathogenicity

not specified
LEOPARD syndrome 2
Noonan syndrome 5
RASopathy

Criteria Provided
Conflicting Classifications

CA432277490

rs_1450510914

3 SubmittersRCV000602160 RCV001146205 RCV001146204 RCV002529525

NM_004333.6(BRAF):c.1023A>G (p.Pro341=)

SNV
Germline

Chr7:140794425

Conflicting classifications of pathogenicity

not specified
LEOPARD syndrome 3
RASopathy
Noonan syndrome 7
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA4516830

rs_56092510

5 SubmittersRCV000608842 RCV001164496 RCV000918253 RCV001164495 RCV002377295

NM_007373.4(SHOC2):c.842-3C>T

SNV
Germline

Chr10:111000412

Conflicting classifications of pathogenicity

not specified
RASopathy
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Conflicting Classifications

CA596016722

rs_1485718634

3 SubmittersRCV000602687 RCV000654984 RCV001813517

NM_005188.4(CBL):c.204G>T (p.Arg68=)

SNV
Germline

Chr11:119232456

Conflicting classifications of pathogenicity

not specified
Noonan syndrome and Noonan-related syndrome
RASopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA477374686

rs_1193552867

4 SubmittersRCV000603113 RCV001813521 RCV003105986 RCV004024935

NM_002834.5(PTPN11):c.1281C>T (p.Gly427=)

SNV
Germline

Chr12:112486531

Conflicting classifications of pathogenicity

not specified
RASopathy
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA6798759

rs_753173299

6 SubmittersRCV000603003 RCV000685929 RCV001813522 RCV003302940 RCV003392447

NM_006939.4(SOS2):c.2600A>G (p.Asn867Ser)

SNV
Germline

Chr14:50145237

Conflicting classifications of pathogenicity

not specified
Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA7177004

rs_561495878

4 SubmittersRCV000610376 RCV000792762 RCV002431764

NM_030662.4(MAP2K2):c.351C>G (p.Arg117=)

SNV
Germline

Chr19:4110608

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA9091018

rs_777670871

3 SubmittersRCV001719079 RCV001813526 RCV002457954

NM_006767.4(LZTR1):c.1530C>T (p.His510=)

SNV
Germline

Chr22:20994184

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Noonan syndrome and Noonan-related syndrome
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related disorder

Criteria Provided
Conflicting Classifications

CA10118928

rs_190714197

11 SubmittersRCV000607024 RCV001253833 RCV001813527 RCV002404694 RCV004533249

NM_002880.4(RAF1):c.113A>C (p.Tyr38Ser)

SNV
Germline

Chr3:12618609

Conflicting classifications of pathogenicity

Cardiovascular phenotype
RASopathy
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Conflicting Classifications

CA2259836

rs_576041742

3 SubmittersRCV000619923 RCV000811009 RCV001813531

NM_002834.5(PTPN11):c.426C>T (p.Ser142=)

SNV
Germline

Chr12:112453288

Conflicting classifications of pathogenicity

Cardiovascular phenotype
RASopathy
Condition: not provided
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Conflicting Classifications

CA6798550

rs_199498784

4 SubmittersRCV000617336 RCV001448239 RCV001712724 RCV001813532

NM_006767.4(LZTR1):c.26G>C (p.Gly9Ala)

SNV
Germline

Chr22:20982397

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Noonan syndrome 10
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Schwannomatosis 2

Criteria Provided
Conflicting Classifications

CA10118269

rs_756485244

7 SubmittersRCV001055587 RCV001199922 RCV002291680 RCV002438612 RCV003465360

NM_002834.5(PTPN11):c.959A>G (p.Asn320Ser)

SNV
Germline

Chr12:112477882

Likely pathogenic

Noonan syndrome

Criteria Provided
Single Submitter

CA386791125

rs_1398859175

1 SubmittersRCV000625873

NM_006767.4(LZTR1):c.1943-256C>T

SNV
Germline

Chr22:20995490

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome 2
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Noonan syndrome
Schwannomatosis 2

Criteria Provided
Conflicting Classifications

CA10119150

rs_761685529

9 SubmittersRCV000681140 RCV000735432 RCV002413779 RCV003336096 RCV003465362

NM_006767.4(LZTR1):c.2178C>A (p.Tyr726Ter)

SNV
Germline

Chr22:20996071

Pathogenic

Noonan syndrome 2
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA410779953

rs_1034395178

3 SubmittersRCV000625963 RCV003162767 RCV002533148

NM_005633.4(SOS1):c.1829T>C (p.Ile610Thr)

SNV
Germline

Chr2:39022599

Conflicting classifications of pathogenicity

RASopathy
Noonan syndrome 4
not specified
Fibromatosis, gingival, 1
Cardiovascular phenotype
Noonan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA1624544

rs_776146535

6 SubmittersRCV000654933 RCV001141307 RCV001192789 RCV001141308 RCV003372796 RCV001261090 RCV003420153

NM_005188.4(CBL):c.1753C>T (p.Arg585Cys)

SNV
Germline

Chr11:119285378

Conflicting classifications of pathogenicity

RASopathy
Noonan syndrome and Noonan-related syndrome
not specified
Condition: not provided
CBL-related disorder

Criteria Provided
Conflicting Classifications

CA6318601

rs_187952822

5 SubmittersRCV000654963 RCV001813541 RCV001816651 RCV003144457 RCV003325210

NM_006939.4(SOS2):c.622G>T (p.Ala208Ser)

SNV
Germline

Chr14:50188589

Conflicting classifications of pathogenicity

Noonan syndrome 9
not specified

Criteria Provided
Conflicting Classifications

CA7177485

rs_61755579

3 SubmittersRCV000652814 RCV001175494

NM_152594.3(SPRED1):c.634G>A (p.Val212Ile)

SNV
Germline

Chr15:38349473

Conflicting classifications of pathogenicity

Legius syndrome
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
SPRED1-related disorder

Criteria Provided
Conflicting Classifications

CA7470143

rs_769630742

4 SubmittersRCV000645297 RCV001813535 RCV002360595 RCV003953153

NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter)

SNV
Germline

Chr15:38299392

Pathogenic

Legius syndrome
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA391933819

rs_750777752

6 SubmittersRCV000645301 RCV001813536

NM_001042492.3(NF1):c.3445A>G (p.Met1149Val)

SNV
Germline

Chr17:31232830

Pathogenic/Likely pathogenic

Neurofibromatosis, type 1
Condition: not provided
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
NF1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA398989297

rs_1187097568

10 SubmittersRCV000632403 RCV001591409 RCV002060718 RCV002458006 RCV004547783

NM_001042492.3(NF1):c.7534G>A (p.Gly2512Ser)

SNV
Germline

Chr17:31352333

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
not specified
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal

Criteria Provided
Conflicting Classifications

CA8487606

rs_766496842

5 SubmittersRCV000632279 RCV001821789 RCV002420689 RCV002483787

NM_001042492.3(NF1):c.7889C>G (p.Thr2630Ser)

SNV
Germline

Chr17:31357288

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Condition: not provided

Criteria Provided
Conflicting Classifications

CA399203394

rs_1283946778

5 SubmittersRCV000632368 RCV002438658 RCV002499044 RCV003313115

NM_006270.5(RRAS):c.568G>C (p.Val190Leu)

SNV
Germline

Chr19:49635738

Conflicting classifications of pathogenicity

Noonan syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA9578960

rs_2230917

4 SubmittersRCV000632781 RCV001251387 RCV001771853

NM_002880.4(RAF1):c.1467G>T (p.Leu489Phe)

SNV
Germline

Chr3:12585750

Likely pathogenic

Condition: not provided
Noonan syndrome

Criteria Provided
Single Submitter

rs_1553610155

2 SubmittersRCV000658138 RCV001261138

NM_006767.4(LZTR1):c.1785+1G>A

SNV
Germline

Chr22:20994728

Pathogenic/Likely pathogenic

Condition: not provided
Schwannomatosis 2
Noonan syndrome 2
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_145594158

6 SubmittersRCV000658061 RCV001788313 RCV002248854 RCV002406499

NM_006767.4(LZTR1):c.272T>C (p.Met91Thr)

SNV
Germline

Chr22:20985849

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome 10

Criteria Provided
Conflicting Classifications

rs_1555927321

2 SubmittersRCV000658483 RCV001330292

NM_001042492.3(NF1):c.943C>T (p.Gln315Ter)

SNV
Germline

Chr17:31200476

Pathogenic

Neurofibromatosis, type 1
Condition: not provided
Neurofibromatosis-Noonan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_766011053

5 SubmittersRCV000659970 RCV001584518 RCV004556064

NM_001042492.3(NF1):c.2850+1G>A

SNV
Germline

Chr17:31229466

Pathogenic

Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1131691122

5 SubmittersRCV000660021 RCV001775145

NM_001042492.3(NF1):c.6704+1G>T

SNV
Germline

Chr17:31337881

Pathogenic

Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Rhabdomyosarcoma
Condition: not provided
Juvenile myelomonocytic leukemia
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_1060500376

8 SubmittersRCV000660100 RCV000710035 RCV001257533 RCV001565306 RCV003459562 RCV002352076

NM_006767.4(LZTR1):c.-38T>A

SNV
Germline

Chr22:20982334

Conflicting classifications of pathogenicity

Noonan syndrome 2
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Condition: not provided
Noonan syndrome 2
Noonan syndrome 10
Schwannomatosis 2
Noonan syndrome 2
Noonan syndrome 10
Schwannomatosis 2

Criteria Provided
Conflicting Classifications

rs_1459786357

6 SubmittersRCV000754921 RCV002360688 RCV002462004 RCV002245073 RCV002499144 RCV003465433

NM_006767.4(LZTR1):c.1311G>A (p.Trp437Ter)

SNV
Germline

Chr22:20993712

Pathogenic

Noonan syndrome 2
Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Schwannomatosis 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_770933647

4 SubmittersRCV000754920 RCV001855426 RCV002386139 RCV004568485

NM_006767.4(LZTR1):c.1407G>A (p.Trp469Ter)

SNV
Germline

Chr22:20993977

Pathogenic

Noonan syndrome 2
Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_777243508

3 SubmittersRCV000754922 RCV001855427 RCV004559339

NM_006912.6(RIT1):c.233G>A (p.Gly78Glu)

SNV
Germline

Chr1:155904735

Conflicting classifications of pathogenicity

Noonan syndrome
Noonan syndrome 8

Criteria Provided
Conflicting Classifications

rs_1557960268

3 SubmittersRCV000678904 RCV000995856

NM_006912.6(RIT1):c.268A>G (p.Met90Val)

SNV
Germline

Chr1:155904472

Pathogenic

RASopathy
Noonan syndrome 8
Noonan syndrome and Noonan-related syndrome
Noonan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

14 SubmittersRCV001192383 RCV000762859 RCV001813544 RCV001261143 RCV000681030

NM_006912.6(RIT1):c.229G>T (p.Ala77Ser)

SNV
Germline

Chr1:155904739

Pathogenic

Condition: not provided
Noonan syndrome 8
Noonan syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_869025191

5 SubmittersRCV000680952 RCV001861885 RCV003453398

NM_005633.4(SOS1):c.864+12A>C

SNV
Germline

Chr2:39051132

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome 4
Fibromatosis, gingival, 1
RASopathy

Criteria Provided
Conflicting Classifications

rs_374379005

3 SubmittersRCV000680629 RCV001138834 RCV001138835 RCV002060860

NM_004333.6(BRAF):c.2191C>T (p.Pro731Ser)

SNV
Germline

Chr7:140734707

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome
Cardiofaciocutaneous syndrome 1

Criteria Provided
Conflicting Classifications

3 SubmittersRCV000681057 RCV001261050 RCV003989578

NM_006939.4(SOS2):c.3076C>T (p.Pro1026Ser)

SNV
Germline

Chr14:50130762

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome 9
not specified
SOS2-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_201874067

6 SubmittersRCV000681418 RCV001058885 RCV003987662 RCV003392518 RCV003303104

NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu)

SNV
Germline

Chr22:20991678

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Noonan syndrome 10
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related disorder

Criteria Provided
Conflicting Classifications

rs_1390048261

7 SubmittersRCV000681035 RCV001193027 RCV001330298 RCV002442408 RCV004535697

NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)

SNV
Germline

Chr22:20991684

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome 10
Noonan syndrome and Noonan-related syndrome
RASopathy
Noonan syndrome 1
Male infertility with azoospermia or oligozoospermia due to single gene mutation
LZTR1-related disorder
Schwannomatosis 2

Criteria Provided
Conflicting Classifications

rs_1223430276

14 SubmittersRCV000681082 RCV000761304 RCV001813545 RCV002233108 RCV003151134 RCV003991581 RCV004535698 RCV004568578

NM_006767.4(LZTR1):c.2187C>T (p.Tyr729=)

SNV
Germline

Chr22:20996080

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Noonan syndrome and Noonan-related syndrome
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_117346988

7 SubmittersRCV000680957 RCV001193628 RCV001813543 RCV002424577

NM_006912.6(RIT1):c.69A>C (p.Lys23Asn)

SNV
Germline

Chr1:155910693

Pathogenic

Noonan syndrome 8
Noonan syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1557962794

5 SubmittersRCV000704832 RCV000856799 RCV001092173

NM_005633.4(SOS1):c.2312T>C (p.Ile771Thr)

SNV
Germline

Chr2:39012204

Conflicting classifications of pathogenicity

not specified
RASopathy
Fibromatosis, gingival, 1
Cardiovascular phenotype
Noonan syndrome 4
SOS1-related disorder

Criteria Provided
Conflicting Classifications

rs_557328600

5 SubmittersRCV001175592 RCV000703796 RCV002468022 RCV002442524 RCV002468023 RCV003980317

NM_005633.4(SOS1):c.3836C>T (p.Thr1279Ile)

SNV
Germline

Chr2:38985990

Conflicting classifications of pathogenicity

RASopathy
Noonan syndrome
Condition: not provided
Cardiovascular phenotype
Noonan syndrome and Noonan-related syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_758258471

7 SubmittersRCV000693949 RCV001261116 RCV001551716 RCV002360759 RCV001813548 RCV003155287

NM_006939.4(SOS2):c.800T>G (p.Met267Arg)

SNV
Germline

Chr14:50182521

Pathogenic/Likely pathogenic

Noonan syndrome 9
RASopathy
Noonan syndrome
Condition: not provided
SOS2-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

8 SubmittersRCV000699741 RCV001264473 RCV001251214 RCV001575734 RCV003411629

NM_006939.4(SOS2):c.721G>A (p.Glu241Lys)

SNV
Germline

Chr14:50182600

Conflicting classifications of pathogenicity

Noonan syndrome 9

Criteria Provided
Conflicting Classifications

rs_148747022

2 SubmittersRCV000691771

NM_002755.4(MAP2K1):c.961C>T (p.Pro321Ser)

SNV
Germline

Chr15:66489215

Conflicting classifications of pathogenicity

RASopathy
Noonan syndrome 1
Cardiofaciocutaneous syndrome 3
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_771613524

5 SubmittersRCV000705987 RCV000763977 RCV001544809 RCV002386272

NM_001042492.3(NF1):c.2266C>T (p.Gln756Ter)

SNV
Germline

Chr17:31227232

Pathogenic

Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Neurofibromatosis, type 1
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567847905

4 SubmittersRCV000762985 RCV000698942 RCV004559624

NM_001042492.3(NF1):c.3055G>A (p.Val1019Ile)

SNV
Germline

Chr17:31230324

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal

Criteria Provided
Conflicting Classifications

rs_1567849826

4 SubmittersRCV000692799 RCV002360749 RCV002477565

NM_001042492.3(NF1):c.4543C>T (p.Gln1515Ter)

SNV
Germline

Chr17:31260481

Pathogenic

Neurofibromatosis, type 1
Juvenile myelomonocytic leukemia
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1567862991

3 SubmittersRCV000691950 RCV000762991

NM_001042492.3(NF1):c.5098C>T (p.Leu1700Phe)

SNV
Germline

Chr17:31326082

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal

Criteria Provided
Conflicting Classifications

rs_775786295

4 SubmittersRCV000693418 RCV002319086 RCV002485661

NM_006270.5(RRAS):c.49G>T (p.Gly17Trp)

SNV
Germline

Chr19:49640050

Conflicting classifications of pathogenicity

Noonan syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_373359206

3 SubmittersRCV000697940 RCV001824868

NM_001042492.3(NF1):c.3870+1G>T

SNV
Germline

Chr17:31235773

Pathogenic

Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_1131691075

3 SubmittersRCV000685073 RCV000762989

NM_004333.6(BRAF):c.1387A>G (p.Ile463Val)

SNV
Unknown

Chr7:140781621

Likely pathogenic

Noonan syndrome 7

Criteria Provided
Single Submitter

rs_1562957000

1 SubmittersRCV000714710

NM_006767.4(LZTR1):c.2220-17C>A

SNV
Germline

Chr22:20996679

Likely pathogenic

Noonan syndrome 2
Schwannomatosis 2

Criteria Provided
Single Submitter

rs_1249726034

2 SubmittersRCV000735430 RCV003465672

NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter)

SNV
Germline

Chr22:20989659

Pathogenic

Noonan syndrome 2
Condition: not provided
Noonan syndrome 10
Schwannomatosis 2
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_150419186

11 SubmittersRCV000735431 RCV000760481 RCV001330297 RCV002290002 RCV002360863 RCV004535887

NM_006767.4(LZTR1):c.361C>G (p.His121Asp)

SNV
Germline

Chr22:20987544

Likely pathogenic

Noonan syndrome 2
Schwannomatosis 2

Criteria Provided
Single Submitter

rs_1569154492

2 SubmittersRCV000735434 RCV003989594

NM_001042492.3(NF1):c.556G>T (p.Asp186Tyr)

SNV
Germline

Chr17:31169967

Conflicting classifications of pathogenicity

Condition: not provided
Neurofibromatosis, type 1
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis

Criteria Provided
Conflicting Classifications

rs_1567820765

4 SubmittersRCV000756436 RCV001214491 RCV002507322

NM_033360.4(KRAS):c.112-5C>T

SNV
Germline

Chr12:25227417

Conflicting classifications of pathogenicity

Linear nevus sebaceous syndrome
Autoimmune lymphoproliferative syndrome type 4
Acute myeloid leukemia
Noonan syndrome 3
Cardiofaciocutaneous syndrome 2
RASopathy
12 conditions

Criteria Provided
Conflicting Classifications

rs_376520586

2 SubmittersRCV000768256 RCV002533940 RCV003224447

NM_012250.6(RRAS2):c.208G>A (p.Ala70Thr)

SNV
Germline

Chr11:14294851

Conflicting classifications of pathogenicity

Noonan syndrome
Noonan syndrome 12
RRAS2-related disorder

Criteria Provided
Conflicting Classifications

rs_782457908

3 SubmittersRCV000852397 RCV000853183 RCV003411705

NM_012250.6(RRAS2):c.68G>T (p.Gly23Val)

SNV
Germline

Chr11:14358803

Pathogenic

Noonan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591495779

2 SubmittersRCV000852396 RCV003232089

NM_005633.4(SOS1):c.376G>A (p.Val126Ile)

SNV
Germline

Chr2:39056836

Conflicting classifications of pathogenicity

not specified
RASopathy
Condition: not provided
Fibromatosis, gingival, 1
Noonan syndrome 4

Criteria Provided
Conflicting Classifications

rs_755770649

4 SubmittersRCV000780745 RCV001856190 RCV002267023 RCV002468035 RCV002468036

NM_004333.6(BRAF):c.995C>T (p.Thr332Ile)

SNV
Germline

Chr7:140794453

Conflicting classifications of pathogenicity

not specified
Noonan syndrome
RASopathy

Criteria Provided
Conflicting Classifications

rs_1008080053

3 SubmittersRCV000780969 RCV001543118 RCV001856191

NM_004333.6(BRAF):c.1178-10A>G

SNV
Germline

Chr7:140783167

Conflicting classifications of pathogenicity

not specified
RASopathy
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Conflicting Classifications

rs_527835644

3 SubmittersRCV000780970 RCV002068540 RCV001813552

NM_001085049.3(MRAS):c.68G>T (p.Gly23Val)

SNV
Germline

Chr3:138372951

Pathogenic

Noonan syndrome 11
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

rs_1576359216

5 SubmittersRCV000787303 RCV003155311

NM_001085049.3(MRAS):c.203C>T (p.Thr68Ile)

SNV
Germline

Chr3:138397333

Pathogenic/Likely pathogenic

Noonan syndrome 11
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1576387876

3 SubmittersRCV000787304 RCV002536888

NM_001085049.3(MRAS):c.212A>G (p.Gln71Arg)

SNV
Germline

Chr3:138397342

Pathogenic

Noonan syndrome 11

Criteria Provided
Single Submitter

rs_1576387885

2 SubmittersRCV000787305

NM_005633.4(SOS1):c.1867T>A (p.Phe623Ile)

SNV
Germline

Chr2:39014838

Likely pathogenic

Noonan syndrome and Noonan-related syndrome
Noonan syndrome 1
Fibromatosis, gingival, 1
Noonan syndrome 4
Condition: not provided

Reviewed By Expert Panel

rs_727505093

6 SubmittersRCV000788001 RCV000856753 RCV001196815 RCV003313978 RCV003166075

NM_005633.4(SOS1):c.1433C>G (p.Pro478Arg)

SNV
Germline

Chr2:39022995

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Conflicting Classifications

rs_1553356111

2 SubmittersRCV000788276 RCV001813553

NM_006767.4(LZTR1):c.730T>C (p.Ser244Pro)

SNV
Germline

Chr22:20990464

Likely pathogenic

Condition: not provided
Noonan syndrome 1

Criteria Provided
Single Submitter

rs_1601718760

3 SubmittersRCV000788720 RCV003151148

NM_004985.5(KRAS):c.451-5642A>T

SNV
Germline

Chr12:25215553

Likely pathogenic

Noonan syndrome 3

Criteria Provided
Single Submitter

rs_1592798693

1 SubmittersRCV000789016

NM_006912.6(RIT1):c.461G>A (p.Arg154Gln)

SNV
Germline

Chr1:155900587

Conflicting classifications of pathogenicity

Noonan syndrome 8
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_754596127

3 SubmittersRCV000808742 RCV002332657 RCV001571706

NM_005633.4(SOS1):c.3274G>A (p.Ala1092Thr)

SNV
Germline

Chr2:38995195

Conflicting classifications of pathogenicity

RASopathy
Cardiovascular phenotype
Fibromatosis, gingival, 1
Noonan syndrome 4

Criteria Provided
Conflicting Classifications

rs_373948887

3 SubmittersRCV000812771 RCV002325588 RCV002468064 RCV002468065

NM_002880.4(RAF1):c.779C>A (p.Thr260Lys)

SNV
Germline

Chr3:12604191

Pathogenic/Likely pathogenic

RASopathy
Noonan syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

rs_869025501

3 SubmittersRCV000792062 RCV001330997

NM_002834.5(PTPN11):c.1041A>G (p.Gln347=)

SNV
Germline

Chr12:112477964

Conflicting classifications of pathogenicity

RASopathy
Noonan syndrome 1
Juvenile myelomonocytic leukemia
LEOPARD syndrome 1
Metachondromatosis

Criteria Provided
Conflicting Classifications

rs_766297596

2 SubmittersRCV000802012 RCV002501074

NM_006939.4(SOS2):c.2969A>G (p.Glu990Gly)

SNV
Germline

Chr14:50134229

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_761320331

2 SubmittersRCV000814711 RCV003166336

NM_006939.4(SOS2):c.2366T>C (p.Leu789Ser)

SNV
Germline

Chr14:50150026

Conflicting classifications of pathogenicity

Noonan syndrome 9
not specified
SOS2-related disorder

Criteria Provided
Conflicting Classifications

rs_142863840

4 SubmittersRCV000792384 RCV003235396 RCV003965585

NM_001042492.3(NF1):c.2375T>A (p.Leu792His)

SNV
Germline

Chr17:31227572

Likely pathogenic

Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

rs_1597713777

3 SubmittersRCV000823704 RCV003141860 RCV003169056

NM_006270.5(RRAS):c.74C>T (p.Pro25Leu)

SNV
Germline

Chr19:49640025

Conflicting classifications of pathogenicity

Noonan syndrome
not specified

Criteria Provided
Conflicting Classifications

rs_558985706

3 SubmittersRCV000796007 RCV001280656

NM_004333.6(BRAF):c.1592G>C (p.Trp531Ser)

SNV
Germline

Chr7:140777014

Pathogenic

Noonan syndrome 7

Criteria Provided
Single Submitter

rs_397507478

1 SubmittersRCV000824993

NM_006939.4(SOS2):c.1126A>T (p.Thr376Ser)

SNV
Germline

Chr14:50161552

Pathogenic

Noonan syndrome
Noonan syndrome 9

Criteria Provided
Single Submitter

rs_1594982548

2 SubmittersRCV000845123 RCV003223414

NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)

SNV
Germline

Chr14:50182530

Pathogenic/Likely pathogenic

Noonan syndrome
RASopathy
Noonan syndrome 9

Criteria Provided
Multiple Submitters
No Conflicts

7 SubmittersRCV000845124 RCV001269182 RCV001250766

NM_006767.4(LZTR1):c.510-2A>G

SNV
Germline

Chr22:20988787

Likely pathogenic

Noonan syndrome 2
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1458682620

3 SubmittersRCV000853390 RCV004559707 RCV003679022

NM_006912.6(RIT1):c.245T>C (p.Phe82Ser)

SNV
Unknown

Chr1:155904495

Pathogenic

Noonan syndrome 1

Criteria Provided
Single Submitter

rs_868208063

1 SubmittersRCV000856764

NM_006912.6(RIT1):c.91G>C (p.Gly31Arg)

SNV
Germline

Chr1:155910671

Pathogenic/Likely pathogenic

Noonan syndrome 1
Noonan syndrome 8
RIT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1571999498

3 SubmittersRCV000856810 RCV003581735 RCV003396492

NM_005188.4(CBL):c.819G>A (p.Thr273=)

SNV
Germline

Chr11:119274903

Conflicting classifications of pathogenicity

Noonan syndrome and Noonan-related syndrome
RASopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_750907780

3 SubmittersRCV001813555 RCV002064551 RCV002427141

NM_152594.3(SPRED1):c.306G>A (p.Thr102=)

SNV
Germline

Chr15:38322339

Conflicting classifications of pathogenicity

Legius syndrome
Noonan syndrome and Noonan-related syndrome
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_372791883

5 SubmittersRCV000868845 RCV001813558 RCV001192641 RCV002442838

NM_002834.5(PTPN11):c.1143C>T (p.Gly381=)

SNV
Germline

Chr12:112482124

Conflicting classifications of pathogenicity

Condition: not provided
RASopathy
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_781677115

5 SubmittersRCV000874210 RCV001458618 RCV001813562 RCV002454027

NM_006767.4(LZTR1):c.2130C>T (p.Ile710=)

SNV
Germline

Chr22:20996023

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome and Noonan-related syndrome
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related disorder

Criteria Provided
Conflicting Classifications

rs_149449207

5 SubmittersRCV001253885 RCV001813584 RCV002418859 RCV004538538

NM_006767.4(LZTR1):c.2511C>T (p.Gly837=)

SNV
Germline

Chr22:20997336

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_202072955

6 SubmittersRCV000873562 RCV001174794 RCV001813560 RCV002427194

NM_006939.4(SOS2):c.599A>G (p.Tyr200Cys)

SNV
Germline

Chr14:50188612

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype
SOS2-related disorder

Criteria Provided
Conflicting Classifications

rs_148595463

5 SubmittersRCV000945752 RCV002354841 RCV003925854

NM_005633.4(SOS1):c.1554A>G (p.Leu518=)

SNV
Germline

Chr2:39022874

Conflicting classifications of pathogenicity

Noonan syndrome and Noonan-related syndrome
RASopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_765369803

3 SubmittersRCV001813568 RCV002065670 RCV003338848

NM_004004.6(GJB2):c.205T>C (p.Phe69Leu)

SNV
Germline

Chr13:20189377

Pathogenic

Noonan syndrome 1

Criteria Provided
Single Submitter

rs_1593351503

1 SubmittersRCV000991326

NM_006767.4(LZTR1):c.2407-2A>G

SNV
Germline

Chr22:20997230

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome 2
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Schwannomatosis 2

Criteria Provided
Conflicting Classifications

rs_1158550690

9 SubmittersRCV000997883 RCV001291825 RCV002454247 RCV003227886

NM_002834.5(PTPN11):c.1271C>T (p.Pro424Leu)

SNV
Germline

Chr12:112486521

Likely pathogenic

Noonan syndrome 1

Criteria Provided
Single Submitter

rs_1592852902

1 SubmittersRCV000995622

NM_002834.5(PTPN11):c.1530G>T (p.Gln510His)

SNV
Germline

Chr12:112489106

Pathogenic

not specified
Condition: not provided
Noonan syndrome
Noonan syndrome 1
PTPN11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

5 SubmittersRCV001001798 RCV001171895 RCV001261024 RCV003989616 RCV004528333

NM_002524.5(NRAS):c.176C>A (p.Ala59Asp)

SNV
Germline

Chr1:114713914

Likely pathogenic

Anemia
Noonan syndrome

No Assertion Criteria Provided

2 SubmittersRCV001003789 RCV001261065

NM_001042492.3(NF1):c.7523A>G (p.Tyr2508Cys)

SNV
Germline

Chr17:31352322

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, type 1
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, familial spinal
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

rs_762169098

5 SubmittersRCV001347934 RCV002479221 RCV002416309 RCV003490012

NM_001042492.3(NF1):c.7781G>T (p.Arg2594Leu)

SNV
Germline

Chr17:31357002

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, type 1
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia

Criteria Provided
Conflicting Classifications

rs_774781617

5 SubmittersRCV001043200 RCV002427471 RCV002481837 RCV003461421

NM_005633.4(SOS1):c.844T>C (p.Cys282Arg)

SNV
Germline

Chr2:39051164

Likely pathogenic

RASopathy
Condition: not provided
Noonan syndrome 4

Reviewed By Expert Panel

rs_1671004485

3 SubmittersRCV001030077 RCV001759719 RCV002290991

NM_006912.6(RIT1):c.230C>G (p.Ala77Gly)

SNV
Germline

Chr1:155904738

Pathogenic/Likely pathogenic

Noonan syndrome 8
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_1673399238

5 SubmittersRCV001054701 RCV001683730 RCV003372960

NM_002880.4(RAF1):c.784A>C (p.Asn262His)

SNV
Germline

Chr3:12604186

Conflicting classifications of pathogenicity

RASopathy
Noonan syndrome
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1575573204

4 SubmittersRCV001067253 RCV001261033 RCV001192471 RCV002411596

NM_002834.5(PTPN11):c.1282G>T (p.Val428Leu)

SNV
Germline

Chr12:112486532

Pathogenic/Likely pathogenic

RASopathy
Condition: not provided
Noonan syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_397507536

3 SubmittersRCV001056808 RCV001788413 RCV003514461

NM_006939.4(SOS2):c.3289T>C (p.Ser1097Pro)

SNV
Germline

Chr14:50130549

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_141214900

3 SubmittersRCV001069163 RCV004030701

NM_006939.4(SOS2):c.2264C>T (p.Pro755Leu)

SNV
Germline

Chr14:50150128

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_868005783

2 SubmittersRCV001070128 RCV003380843

NM_006939.4(SOS2):c.1976T>C (p.Leu659Ser)

SNV
Germline

Chr14:50157080

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1391029692

3 SubmittersRCV001050438 RCV002416379

NM_001042492.3(NF1):c.2989A>G (p.Arg997Gly)

SNV
Germline

Chr17:31229973

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2067085335

5 SubmittersRCV001053596 RCV001535658 RCV003320797

NM_002524.5(NRAS):c.*2618A>G

SNV
Germline

Chr1:114705476

Conflicting classifications of pathogenicity

Noonan syndrome 6
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_528439389

2 SubmittersRCV001098880 RCV003405303

NM_002524.5(NRAS):c.112-6C>G

SNV
Germline

Chr1:114713984

Conflicting classifications of pathogenicity

Noonan syndrome 6
Condition: not provided
RASopathy

Criteria Provided
Conflicting Classifications

rs_200604652

3 SubmittersRCV001100798 RCV001566706 RCV002558012

NM_004985.5(KRAS):c.111+8T>G

SNV
Germline

Chr12:25245266

Conflicting classifications of pathogenicity

Noonan syndrome 3
RASopathy

Criteria Provided
Conflicting Classifications

rs_779370636

2 SubmittersRCV001114231 RCV002069841

NM_001042492.3(NF1):c.*126G>A

SNV
Germline

Chr17:31374281

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_184715593

2 SubmittersRCV001126518 RCV001126519 RCV001126516 RCV001126517 RCV002264199

NM_001042492.3(NF1):c.*584G>C

SNV
Germline

Chr17:31374739

Conflicting classifications of pathogenicity

Neurofibromatosis-Noonan syndrome
Neurofibromatosis, familial spinal
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, type 1

Criteria Provided
Conflicting Classifications

rs_190144445

1 SubmittersRCV001126639 RCV001126636 RCV001126637 RCV001126638

NM_001042492.3(NF1):c.1392+6A>T

SNV
Germline

Chr17:31206377

Conflicting classifications of pathogenicity

Café-au-lait macules with pulmonary stenosis
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Hereditary cancer-predisposing syndrome
NF1-related disorder

Criteria Provided
Conflicting Classifications

rs_200798969

4 SubmittersRCV001125731 RCV001125730 RCV001125732 RCV001125733 RCV002259083 RCV004548004

NM_001042492.3(NF1):c.2409+15T>C

SNV
Germline

Chr17:31227621

Conflicting classifications of pathogenicity

Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome

Criteria Provided
Conflicting Classifications

rs_2067039946

2 SubmittersRCV001122169 RCV001122166 RCV001122167 RCV001122168

NM_001042492.3(NF1):c.6643-13T>C

SNV
Germline

Chr17:31337806

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Condition: not provided
Neurofibromatosis, familial spinal

Criteria Provided
Conflicting Classifications

rs_764601493

3 SubmittersRCV001122576 RCV001122577 RCV001122579 RCV001561831 RCV001122578

NM_001042492.3(NF1):c.7616-15A>C

SNV
Germline

Chr17:31356445

Conflicting classifications of pathogenicity

Neurofibromatosis-Noonan syndrome
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Café-au-lait macules with pulmonary stenosis

Criteria Provided
Conflicting Classifications

rs_952554990

2 SubmittersRCV001123775 RCV001123774 RCV001123776 RCV001123773

NM_005633.4(SOS1):c.*3149C>T

SNV
Germline

Chr2:38982675

Conflicting classifications of pathogenicity

Noonan syndrome 4
Fibromatosis, gingival, 1
Noonan syndrome 4
Fibromatosis, gingival, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_541644361

3 SubmittersRCV001140016 RCV001140017 RCV002480522 RCV003425947

NM_005633.4(SOS1):c.3592A>G (p.Ile1198Val)

SNV
Germline

Chr2:38986234

Conflicting classifications of pathogenicity

Noonan syndrome 4
Fibromatosis, gingival, 1
Cardiovascular phenotype
Fibromatosis, gingival, 1
Noonan syndrome 4
Condition: not provided
RASopathy

Criteria Provided
Conflicting Classifications

rs_747534810

6 SubmittersRCV001141202 RCV001141203 RCV002339415 RCV002505713 RCV003142076 RCV003539387

NM_005633.4(SOS1):c.1635G>A (p.Gln545=)

SNV
Germline

Chr2:39022793

Conflicting classifications of pathogenicity

Fibromatosis, gingival, 1
Noonan syndrome 4
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1240207005

2 SubmittersRCV001143159 RCV001143158 RCV002402513

NM_002880.4(RAF1):c.654A>G (p.Arg218=)

SNV
Germline

Chr3:12606227

Conflicting classifications of pathogenicity

Noonan syndrome 5
LEOPARD syndrome 2
RASopathy

Criteria Provided
Conflicting Classifications

rs_898490426

2 SubmittersRCV001144311 RCV001144312 RCV003539388

NM_004333.6(BRAF):c.1569A>G (p.Pro523=)

SNV
Germline

Chr7:140777037

Conflicting classifications of pathogenicity

Noonan syndrome 7
LEOPARD syndrome 3
RASopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_759843625

3 SubmittersRCV001160827 RCV001160826 RCV002558526 RCV004032849

NM_002745.5(MAPK1):c.953A>G (p.Asp318Gly)

SNV
Germline

Chr22:21772886

Pathogenic

Noonan syndrome 13
Specific learning disability
Heart, malformation of
Atypical behavior
Intellectual disability
Abnormal facial shape
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2068716907

3 SubmittersRCV001264765 RCV001261417 RCV002462345

NM_002745.5(MAPK1):c.952G>A (p.Asp318Asn)

SNV
Germline

Chr22:21772887

Pathogenic

Specific learning disability
Heart, malformation of
Atypical behavior
Intellectual disability
Abnormal facial shape
Noonan syndrome 13

Criteria Provided
Single Submitter

rs_2068716940

2 SubmittersRCV001261416 RCV001264764

NM_002745.5(MAPK1):c.521C>T (p.Ala174Val)

SNV
Germline

Chr22:21799100

Pathogenic

Noonan syndrome 13
Macrocephaly
Atypical behavior
Heart, malformation of
Abnormal facial shape
Specific learning disability
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2069052012

3 SubmittersRCV001264763 RCV001261415 RCV002555438

NM_002745.5(MAPK1):c.221T>A (p.Ile74Asn)

SNV
Germline

Chr22:21807745

Pathogenic

6 conditions
Noonan syndrome 13

Criteria Provided
Single Submitter

rs_2069154121

2 SubmittersRCV001261413 RCV001264762

NM_005633.4(SOS1):c.2990T>C (p.Met997Thr)

SNV
Germline

Chr2:38997013

Conflicting classifications of pathogenicity

not specified
RASopathy
Noonan syndrome 4
Fibromatosis, gingival, 1

Criteria Provided
Conflicting Classifications

rs_1321926273

4 SubmittersRCV001175593 RCV001364823 RCV002245865 RCV002468183

NM_006270.5(RRAS):c.563G>A (p.Arg188Gln)

SNV
Germline

Chr19:49635743

Conflicting classifications of pathogenicity

not specified
Noonan syndrome
RRAS-related disorder

Criteria Provided
Conflicting Classifications

rs_374621936

5 SubmittersRCV001193590 RCV001863059 RCV003945910

NM_004333.6(BRAF):c.1992+8T>C

SNV
Germline

Chr7:140749279

Conflicting classifications of pathogenicity

not specified
Noonan syndrome and Noonan-related syndrome
RASopathy

Criteria Provided
Conflicting Classifications

rs_753545284

3 SubmittersRCV001193259 RCV001813577 RCV002069217

NM_006939.4(SOS2):c.2958+17C>T

SNV
Germline

Chr14:50138595

Conflicting classifications of pathogenicity

not specified
Noonan syndrome 9

Criteria Provided
Conflicting Classifications

rs_889359090

2 SubmittersRCV001193658 RCV002069231

NM_005633.4(SOS1):c.1075-16C>T

SNV
Germline

Chr2:39024153

Conflicting classifications of pathogenicity

Fibromatosis, gingival, 1
Noonan syndrome 4
Fibromatosis, gingival, 1
RASopathy

Criteria Provided
Conflicting Classifications

rs_112540686

3 SubmittersRCV001199148 RCV002491599 RCV002560265

NM_005633.4(SOS1):c.3134C>G (p.Pro1045Arg)

SNV
Germline

Chr2:38995335

Pathogenic

Noonan syndrome 4

No Assertion Criteria Provided

rs_1668859370

1 SubmittersRCV001200895

NM_006270.5(RRAS):c.229G>A (p.Ala77Thr)

SNV
Germline

Chr19:49637055

Conflicting classifications of pathogenicity

not specified
Noonan syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_200611081

4 SubmittersRCV001201213 RCV001397494 RCV003490112

NM_004333.6(BRAF):c.1699T>G (p.Leu567Val)

SNV
Germline

Chr7:140754229

Conflicting classifications of pathogenicity

RASopathy
Noonan syndrome
Noonan syndrome 7
Condition: not provided

Criteria Provided
Conflicting Classifications

4 SubmittersRCV001215821 RCV001261047 RCV001329216 RCV003222259

NM_002834.5(PTPN11):c.222G>A (p.Leu74=)

SNV
Germline

Chr12:112450402

Conflicting classifications of pathogenicity

RASopathy
Metachondromatosis
Noonan syndrome 1
Juvenile myelomonocytic leukemia
LEOPARD syndrome 1

Criteria Provided
Conflicting Classifications

rs_1429492147

2 SubmittersRCV001222471 RCV002491699

NM_006939.4(SOS2):c.3553G>T (p.Val1185Leu)

SNV
Germline

Chr14:50118790

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_778368766

2 SubmittersRCV001221103 RCV004032406

NM_006939.4(SOS2):c.2290A>G (p.Ser764Gly)

SNV
Germline

Chr14:50150102

Conflicting classifications of pathogenicity

Noonan syndrome 9

Criteria Provided
Conflicting Classifications

rs_779464455

2 SubmittersRCV001222646

NM_005633.4(SOS1):c.3902A>G (p.His1301Arg)

SNV
Germline

Chr2:38985924

Conflicting classifications of pathogenicity

RASopathy
Noonan syndrome 4
Fibromatosis, gingival, 1

Criteria Provided
Conflicting Classifications

rs_771396497

2 SubmittersRCV001208439 RCV002480682

NM_006939.4(SOS2):c.3520G>A (p.Ala1174Thr)

SNV
Germline

Chr14:50118823

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_935249167

3 SubmittersRCV001213784 RCV002451466

NM_006767.4(LZTR1):c.488C>T (p.Thr163Met)

SNV
Germline

Chr22:20988097

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome and Noonan-related syndrome
not specified
Schwannomatosis 2
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_200806641

6 SubmittersRCV001203002 RCV001813580 RCV003490116 RCV003469324 RCV002339507

NM_006939.4(SOS2):c.3407T>C (p.Leu1136Ser)

SNV
Germline

Chr14:50120357

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_372874114

2 SubmittersRCV001233162 RCV004033192

NM_006939.4(SOS2):c.2707G>A (p.Val903Met)

SNV
Germline

Chr14:50140020

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

rs_745788940

3 SubmittersRCV001225500 RCV003163756 RCV003323821

NM_001042492.3(NF1):c.5327C>G (p.Ser1776Ter)

SNV
Germline

Chr17:31327557

Pathogenic

Neurofibromatosis, type 1
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_2069376973

5 SubmittersRCV001233467 RCV002339643 RCV003483801

NM_006767.4(LZTR1):c.851G>A (p.Arg284His)

SNV
Germline

Chr22:20991687

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Noonan syndrome 1

Criteria Provided
Conflicting Classifications

rs_768361273

5 SubmittersRCV001228996 RCV002222681 RCV002447149 RCV003449721

NM_005633.4(SOS1):c.382G>A (p.Val128Ile)

SNV
Germline

Chr2:39056830

Conflicting classifications of pathogenicity

RASopathy
Cardiovascular phenotype
Fibromatosis, gingival, 1
Fibromatosis, gingival, 1
Noonan syndrome 4
Noonan syndrome 4

Criteria Provided
Conflicting Classifications

rs_752402979

4 SubmittersRCV001241159 RCV002366065 RCV002468202 RCV002484323 RCV002468203

NM_006939.4(SOS2):c.3818G>A (p.Arg1273Gln)

SNV
Germline

Chr14:50118525

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_58365465

3 SubmittersRCV001243964 RCV002357039

NM_001042492.3(NF1):c.60G>C (p.Gln20His)

SNV
Germline

Chr17:31095369

Likely pathogenic

Neurofibromatosis, type 1
Condition: not provided
Neurofibromatosis-Noonan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1911559787

5 SubmittersRCV001240243 RCV001559916 RCV004556079

NM_006767.4(LZTR1):c.1700G>A (p.Arg567His)

SNV
Germline

Chr22:20994642

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Noonan syndrome 10
Schwannomatosis 2

Criteria Provided
Conflicting Classifications

rs_372417941

6 SubmittersRCV001243402 RCV001290606 RCV002402775 RCV002466649 RCV002291738

NM_001042492.3(NF1):c.7971-321C>G

SNV
Germline

Chr17:31358159

Pathogenic/Likely pathogenic

Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Café-au-lait macules with pulmonary stenosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_2070316606

2 SubmittersRCV001231640 RCV002480758

NM_006767.4(LZTR1):c.993+1G>A

SNV
Germline

Chr22:20991830

Conflicting classifications of pathogenicity

Noonan syndrome 2
Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Schwannomatosis 2
not specified

Criteria Provided
Conflicting Classifications

rs_770368435

7 SubmittersRCV001250472 RCV001379899 RCV002379954 RCV003462828 RCV003994246

NM_006939.4(SOS2):c.791C>G (p.Thr264Arg)

SNV
Germline

Chr14:50182530

Pathogenic

Noonan syndrome
Noonan syndrome 9

Criteria Provided
Single Submitter

2 SubmittersRCV001251213 RCV001250765

NM_002709.3(PPP1CB):c.545T>A (p.Met182Lys)

SNV
Germline

Chr2:28783931

Conflicting classifications of pathogenicity

Noonan syndrome
Noonan syndrome-like disorder with loose anagen hair 2
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV001251212 RCV001293456 RCV002282501

NM_006939.4(SOS2):c.1609G>T (p.Ala537Ser)

SNV
Germline

Chr14:50159674

Conflicting classifications of pathogenicity

not specified
Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_748632850

3 SubmittersRCV001251318 RCV001879819 RCV002393667

NM_006912.6(RIT1):c.268A>C (p.Met90Leu)

SNV
Germline

Chr1:155904472

Likely pathogenic

Noonan syndrome 8

Criteria Provided
Single Submitter

rs_1557960039

1 SubmittersRCV001253561

NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr)

SNV
Germline

Chr10:111009729

Conflicting classifications of pathogenicity

Noonan syndrome-like disorder with loose anagen hair 1
Cardiovascular phenotype
RASopathy

Criteria Provided
Conflicting Classifications

rs_995403413

4 SubmittersRCV001253339 RCV002393668 RCV002568732

NM_006767.4(LZTR1):c.722T>C (p.Phe241Ser)

SNV
Germline

Chr22:20990456

Likely pathogenic

Noonan syndrome 10
Noonan syndrome 2

No Assertion Criteria Provided

rs_1423756155

1 SubmittersRCV001257442

NM_002834.5(PTPN11):c.317A>G (p.Asp106Gly)

SNV
Germline

Chr12:112450497

Likely pathogenic

Autism spectrum disorder
Noonan syndrome

Criteria Provided
Single Submitter

2 SubmittersRCV001257614 RCV001261101

NM_002834.5(PTPN11):c.1282G>C (p.Val428Leu)

SNV
Germline

Chr12:112486532

Conflicting classifications of pathogenicity

Intellectual disability
RASopathy
Noonan syndrome 1

Criteria Provided
Conflicting Classifications

rs_397507536

3 SubmittersRCV001257612 RCV001879977 RCV002471063

NM_002524.5(NRAS):c.204A>T (p.Arg68Ser)

SNV
Germline

Chr1:114713886

Likely pathogenic

Noonan syndrome

No Assertion Criteria Provided

1 SubmittersRCV001261066

NM_006912.6(RIT1):c.235C>G (p.Gln79Glu)

SNV
Germline

Chr1:155904733

Likely pathogenic

Noonan syndrome
Condition: not provided
Noonan syndrome 8

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV001261142 RCV003313201 RCV001880009

NM_006912.6(RIT1):c.113C>A (p.Thr38Asn)

SNV
Germline

Chr1:155910500

Likely pathogenic

Noonan syndrome
Noonan syndrome 8

Criteria Provided
Single Submitter

2 SubmittersRCV001261139 RCV002541575

NM_005633.4(SOS1):c.2183A>C (p.Lys728Thr)

SNV
Germline

Chr2:39012333

Conflicting classifications of pathogenicity

RASopathy
Noonan syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

3 SubmittersRCV001880003 RCV001261110 RCV004035384

NM_005633.4(SOS1):c.1477A>G (p.Lys493Glu)

SNV
Germline

Chr2:39022951

Likely pathogenic

Noonan syndrome

No Assertion Criteria Provided

1 SubmittersRCV001261084

NM_005633.4(SOS1):c.805A>G (p.Met269Val)

SNV
Unknown

Chr2:39051203

Likely pathogenic

Noonan syndrome
Noonan syndrome 4

Criteria Provided
Single Submitter

2 SubmittersRCV001261074 RCV001775163

NM_007373.4(SHOC2):c.187G>A (p.Gly63Arg)

SNV
Germline

Chr10:110964545

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome
RASopathy

Criteria Provided
Conflicting Classifications

3 SubmittersRCV001587301 RCV001261149 RCV003655332

NM_002834.5(PTPN11):c.171G>T (p.Gln57His)

SNV
Germline

Chr12:112450351

Likely pathogenic

Noonan syndrome

No Assertion Criteria Provided

1 SubmittersRCV001261097

NM_002834.5(PTPN11):c.663A>G (p.Ile221Met)

SNV
Germline

Chr12:112455970

Pathogenic/Likely pathogenic

LEOPARD syndrome 1
Noonan syndrome
Proportionate short stature
Noonan syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV002246254 RCV001261107 RCV001779145 RCV003152757

NM_002834.5(PTPN11):c.1529A>T (p.Gln510Leu)

SNV
Germline

Chr12:112489105

Likely pathogenic

Noonan syndrome
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Single Submitter

2 SubmittersRCV001261023 RCV001813585

NM_002755.4(MAP2K1):c.308T>C (p.Ile103Thr)

SNV
Germline

Chr15:66436762

Likely pathogenic

Noonan syndrome

No Assertion Criteria Provided

1 SubmittersRCV001261060

NM_002755.4(MAP2K1):c.608A>C (p.Glu203Ala)

SNV
Germline

Chr15:66481794

Likely pathogenic

Noonan syndrome
RASopathy

Criteria Provided
Single Submitter

2 SubmittersRCV001261061 RCV001349797

NM_004985.5(KRAS):c.221C>T (p.Thr74Ile)

SNV
Germline

Chr12:25227303

Likely pathogenic

Noonan syndrome

No Assertion Criteria Provided

rs_1951405479

1 SubmittersRCV001261057

NM_033360.4(KRAS):c.458A>C (p.Glu153Ala)

SNV
Germline

Chr12:25215553

Likely pathogenic

Noonan syndrome

No Assertion Criteria Provided

rs_1592798693

1 SubmittersRCV001261058

NM_002834.5(PTPN11):c.772G>A (p.Glu258Lys)

SNV
Germline

Chr12:112472959

Likely pathogenic

Noonan syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1279770165

2 SubmittersRCV001262011

NM_002834.5(PTPN11):c.1409T>C (p.Ile470Thr)

SNV
Germline

Chr12:112488472

Likely pathogenic

Noonan syndrome 1

Criteria Provided
Single Submitter

rs_2038706856

1 SubmittersRCV001261995

NM_006767.4(LZTR1):c.1785+1G>C

SNV
Germline

Chr22:20994728

Pathogenic

Noonan syndrome 10

Criteria Provided
Single Submitter

rs_145594158

1 SubmittersRCV001264409

NM_006939.4(SOS2):c.3788C>G (p.Pro1263Arg)

SNV
Germline

Chr14:50118555

Conflicting classifications of pathogenicity

not specified
Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_569343105

4 SubmittersRCV001264556 RCV001365570 RCV004035418

NM_006767.4(LZTR1):c.594-3C>T

SNV
Germline

Chr22:20989622

Conflicting classifications of pathogenicity

not specified
Noonan syndrome 2
Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_373968693

5 SubmittersRCV001264472 RCV001330296 RCV001401433 RCV002357064

NM_006939.4(SOS2):c.1648C>G (p.Arg550Gly)

SNV
Germline

Chr14:50159635

Conflicting classifications of pathogenicity

Noonan syndrome 9
SOS2-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1344304906

3 SubmittersRCV002290676 RCV003908485 RCV004035426

NM_002834.5(PTPN11):c.179G>A (p.Gly60Asp)

SNV
Germline

Chr12:112450359

Likely pathogenic

Noonan syndrome 1
Condition: not provided

Criteria Provided
Single Submitter

rs_397507509

2 SubmittersRCV001268963 RCV001815530

NM_005633.4(SOS1):c.2158A>G (p.Thr720Ala)

SNV
Germline

Chr2:39013469

Conflicting classifications of pathogenicity

Noonan syndrome 4
Condition: not provided
Cardiovascular phenotype
RASopathy
Noonan syndrome 4
Fibromatosis, gingival, 1
Fibromatosis, gingival, 1

Criteria Provided
Conflicting Classifications

rs_367634525

6 SubmittersRCV001290370 RCV001587319 RCV002418880 RCV002538392 RCV002504421 RCV002468214

NM_006912.6(RIT1):c.368G>A (p.Arg123His)

SNV
Germline

Chr1:155904372

Conflicting classifications of pathogenicity

Noonan syndrome 8
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_977405637

2 SubmittersRCV001306970 RCV001558902

NM_006939.4(SOS2):c.1264G>A (p.Glu422Lys)

SNV
Germline

Chr14:50160019

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_375244948

3 SubmittersRCV001305509 RCV002447309

NM_005633.4(SOS1):c.1672A>G (p.Met558Val)

SNV
Germline

Chr2:39022756

Conflicting classifications of pathogenicity

RASopathy
Cardiovascular phenotype
Fibromatosis, gingival, 1
Noonan syndrome 4
Fibromatosis, gingival, 1
Noonan syndrome 4

Criteria Provided
Conflicting Classifications

rs_371295853

4 SubmittersRCV001326979 RCV002402916 RCV002468230 RCV002468231 RCV002493707

NM_006939.4(SOS2):c.3944C>T (p.Ser1315Leu)

SNV
Germline

Chr14:50118399

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_865922330

3 SubmittersRCV001322075 RCV002357153

NM_006939.4(SOS2):c.3902A>G (p.His1301Arg)

SNV
Germline

Chr14:50118441

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_759124324

3 SubmittersRCV001322577 RCV002377404

NM_006767.4(LZTR1):c.1978G>A (p.Glu660Lys)

SNV
Germline

Chr22:20995781

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome 10
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Schwannomatosis 2

Criteria Provided
Conflicting Classifications

rs_151000791

5 SubmittersRCV001314421 RCV002265981 RCV002418948 RCV004570744

NM_006939.4(SOS2):c.2959-20T>G

SNV
Germline

Chr14:50134259

Conflicting classifications of pathogenicity

not specified
Noonan syndrome 9

Criteria Provided
Conflicting Classifications

rs_375042033

2 SubmittersRCV001328462 RCV003591855

NM_007373.4(SHOC2):c.1477C>T (p.Leu493Phe)

SNV
Germline

Chr10:111009767

Conflicting classifications of pathogenicity

Noonan syndrome 3
RASopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1026930115

4 SubmittersRCV001331722 RCV001871822 RCV001558056 RCV002395732

NM_006767.4(LZTR1):c.1055A>C (p.Tyr352Ser)

SNV
Germline

Chr22:20992275

Conflicting classifications of pathogenicity

Noonan syndrome 2
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_368649599

5 SubmittersRCV001329630 RCV002402921 RCV002546345 RCV003226460

NM_005633.4(SOS1):c.3370G>A (p.Val1124Ile)

SNV
Germline

Chr2:38989291

Conflicting classifications of pathogenicity

Noonan syndrome 4
RASopathy
Fibromatosis, gingival, 1

Criteria Provided
Conflicting Classifications

rs_1342428273

3 SubmittersRCV001336850 RCV001871894 RCV002468233

NM_006939.4(SOS2):c.3644C>G (p.Thr1215Ser)

SNV
Germline

Chr14:50118699

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_773877975

2 SubmittersRCV001348666 RCV004036561

NM_006767.4(LZTR1):c.1183G>A (p.Val395Ile)

SNV
Germline

Chr22:20992827

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Schwannomatosis 2
Noonan syndrome 2
Noonan syndrome 10

Criteria Provided
Conflicting Classifications

rs_373591504

5 SubmittersRCV001342538 RCV002222702 RCV002341702 RCV003469574 RCV004557552

NM_006912.6(RIT1):c.113C>G (p.Thr38Ser)

SNV
Germline

Chr1:155910500

Conflicting classifications of pathogenicity

Noonan syndrome 8
not specified

Criteria Provided
Conflicting Classifications

rs_2102590960

2 SubmittersRCV001362346 RCV001732138

NM_005188.4(CBL):c.1100A>G (p.Gln367Arg)

SNV
Germline

Chr11:119278170

Likely pathogenic

RASopathy
Noonan syndrome and Noonan-related syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_267606704

3 SubmittersRCV001361524 RCV001813591 RCV002462956

NM_006939.4(SOS2):c.1567A>G (p.Ile523Val)

SNV
Germline

Chr14:50159716

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1884934797

2 SubmittersRCV001372130 RCV004037522

NM_001042492.3(NF1):c.4228T>A (p.Phe1410Ile)

SNV
Germline

Chr17:31258398

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_2151461937

3 SubmittersRCV001360080 RCV001526462 RCV002329355

NM_005633.4(SOS1):c.1310T>A (p.Ile437Asn)

SNV
Germline

Chr2:39023118

Likely pathogenic

RASopathy
Cardiovascular phenotype
Noonan syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

rs_397517150

3 SubmittersRCV001377878 RCV002384544 RCV002468240

NM_002524.5(NRAS):c.173C>T (p.Thr58Ile)

SNV
Germline

Chr1:114713917

Pathogenic/Likely pathogenic

RASopathy
Noonan syndrome and Noonan-related syndrome
Colorectal cancer
Condition: not provided
Noonan syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2101742052

6 SubmittersRCV001382057 RCV001813594 RCV002246364 RCV002243172 RCV003151312

NM_001042492.3(NF1):c.731-1G>C

SNV
Germline

Chr17:31182507

Pathogenic

Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Juvenile myelomonocytic leukemia
Gastric cancer

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555608928

4 SubmittersRCV001386020 RCV002463812 RCV003463010 RCV003169948

NM_001042492.3(NF1):c.3628G>T (p.Glu1210Ter)

SNV
Germline

Chr17:31233133

Pathogenic

Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Juvenile myelomonocytic leukemia
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2151435633

2 SubmittersRCV001381681 RCV002499792

NM_006270.5(RRAS):c.454-19G>A

SNV
Germline

Chr19:49635871

Conflicting classifications of pathogenicity

not specified
Noonan syndrome

Criteria Provided
Conflicting Classifications

rs_776793181

2 SubmittersRCV001420789 RCV002070262

NM_006767.4(LZTR1):c.1412G>A (p.Arg471His)

SNV
Germline

Chr22:20993982

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Noonan syndrome 10
Schwannomatosis 2

Criteria Provided
Conflicting Classifications

rs_139031749

6 SubmittersRCV001420790 RCV001882535 RCV002395958 RCV003444868 RCV003470845

NM_002524.5(NRAS):c.69A>G (p.Leu23=)

SNV
Germline

Chr1:114716092

Conflicting classifications of pathogenicity

RASopathy
Noonan syndrome and Noonan-related syndrome
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_771113899

4 SubmittersRCV001432727 RCV001813596 RCV001550029 RCV003160733

NM_006939.4(SOS2):c.1989A>G (p.Lys663=)

SNV
Germline

Chr14:50157067

Conflicting classifications of pathogenicity

Noonan syndrome 9
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1488158197

3 SubmittersRCV001439956 RCV001813598 RCV002420994

NM_007373.4(SHOC2):c.1447T>C (p.Leu483=)

SNV
Germline

Chr10:111009737

Conflicting classifications of pathogenicity

RASopathy
Cardiovascular phenotype
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Conflicting Classifications

rs_539117121

3 SubmittersRCV001476761 RCV002396134 RCV001813599

NM_006767.4(LZTR1):c.1605C>A (p.Tyr535Ter)

SNV
Germline

Chr22:20994259

Pathogenic/Likely pathogenic

Noonan syndrome 2
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_753347937

3 SubmittersRCV001507319 RCV002405205 RCV003434298

NM_002880.4(RAF1):c.834+598G>A

SNV
Germline

Chr3:12603538

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome 5
Noonan syndrome 5
Dilated cardiomyopathy 1NN
LEOPARD syndrome 2

Criteria Provided
Conflicting Classifications

rs_375404697

4 SubmittersRCV001528403 RCV002471114 RCV002476842

NM_002834.5(PTPN11):c.865A>G (p.Arg289Gly)

SNV
Germline

Chr12:112477662

Conflicting classifications of pathogenicity

Condition: not provided
LEOPARD syndrome 1
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
RASopathy

Criteria Provided
Conflicting Classifications

rs_2135901005

3 SubmittersRCV001557643 RCV002495890 RCV003120628

NM_006912.6(RIT1):c.309G>A (p.Thr103=)

SNV
Germline

Chr1:155904431

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome 8

Criteria Provided
Conflicting Classifications

rs_370396152

2 SubmittersRCV001569023 RCV002568450

NM_005633.4(SOS1):c.3737A>G (p.Asn1246Ser)

SNV
Germline

Chr2:38986089

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
RASopathy
Fibromatosis, gingival, 1
Noonan syndrome 4

Criteria Provided
Conflicting Classifications

rs_374110460

4 SubmittersRCV001577043 RCV002343752 RCV002570808 RCV002468276 RCV002468277

NM_181784.3(SPRED2):c.299T>C (p.Leu100Pro)

SNV
Germline

Chr2:65334679

Pathogenic

Noonan syndrome
Noonan syndrome 14

Criteria Provided
Single Submitter

rs_2104216988

2 SubmittersRCV001720327 RCV001836618

NM_181784.3(SPRED2):c.187C>T (p.Arg63Ter)

SNV
Germline

Chr2:65344736

Pathogenic

Noonan syndrome
Noonan syndrome 14

No Assertion Criteria Provided

rs_780902942

2 SubmittersRCV001580210 RCV001836619

NM_005343.4(HRAS):c.-101C>T

SNV
Germline

Chr11:535463

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Conflicting Classifications

rs_8176336

2 SubmittersRCV001615855 RCV001813603

NM_006767.4(LZTR1):c.347C>G (p.Ala116Gly)

SNV
Unknown

Chr22:20987530

Likely pathogenic

Noonan syndrome 2

Criteria Provided
Single Submitter

rs_1215353050

1 SubmittersRCV001706920

NM_006912.6(RIT1):c.116T>G (p.Met39Arg)

SNV
Germline

Chr1:155910497

Likely pathogenic

Noonan syndrome 8

Criteria Provided
Single Submitter

rs_2102590945

1 SubmittersRCV001730034

NM_002745.5(MAPK1):c.763A>G (p.Ile255Val)

SNV
Germline

Chr22:21788350

Likely pathogenic

Noonan syndrome 13

Criteria Provided
Single Submitter

rs_375334289

1 SubmittersRCV001730044

NM_006767.4(LZTR1):c.1260+1G>A

SNV
Germline

Chr22:20992905

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Schwannomatosis 2
Noonan syndrome 10
LZTR1-related disorder

Criteria Provided
Conflicting Classifications

rs_143868364

7 SubmittersRCV001768491 RCV002425044 RCV003464128 RCV003458230 RCV004536285

NM_002834.5(PTPN11):c.957C>T (p.Asn319=)

SNV
Germline

Chr12:112477880

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Juvenile myelomonocytic leukemia
Noonan syndrome 1
Metachondromatosis
LEOPARD syndrome 1
RASopathy

Criteria Provided
Conflicting Classifications

rs_771407775

4 SubmittersRCV001752628 RCV002386529 RCV002477970 RCV003539405

NM_002524.5(NRAS):c.449A>G (p.Gln150Arg)

SNV
Unknown

Chr1:114709570

Likely pathogenic

Noonan syndrome 6

Criteria Provided
Single Submitter

rs_2101738598

1 SubmittersRCV001775405

NM_006767.4(LZTR1):c.485G>A (p.Trp162Ter)

SNV
Germline

Chr22:20988094

Pathogenic

Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Noonan syndrome 10
Noonan syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_1458120855

4 SubmittersRCV001776992 RCV002334691 RCV004558646

NM_006939.4(SOS2):c.858+12A>G

SNV
Germline

Chr14:50182451

Conflicting classifications of pathogenicity

not specified
Noonan syndrome 9

Criteria Provided
Conflicting Classifications

rs_1318750223

2 SubmittersRCV001779537 RCV002034540

NM_004333.6(BRAF):c.823G>A (p.Glu275Lys)

SNV
Germline

Chr7:140801449

Pathogenic/Likely pathogenic

RASopathy
Noonan syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

rs_2129044284

2 SubmittersRCV002034598 RCV002468641

NM_001042492.3(NF1):c.6819+1G>T

SNV
Germline

Chr17:31338140

Pathogenic

Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555534964

3 SubmittersRCV001800164 RCV002283558

NM_005633.4(SOS1):c.925G>A (p.Asp309Asn)

SNV
Germline

Chr2:39035440

Likely pathogenic

Noonan syndrome 4

Criteria Provided
Single Submitter

rs_397517180

1 SubmittersRCV001808257

NM_006767.4(LZTR1):c.320+1G>C

SNV
Germline

Chr22:20985898

Likely pathogenic

Noonan syndrome 10
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Condition: not provided
Schwannomatosis 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_943939913

4 SubmittersRCV001809170 RCV002324209 RCV003738099 RCV004571109

NM_152594.3(SPRED1):c.916A>T (p.Lys306Ter)

SNV
Germline

Chr15:38351245

Likely pathogenic

Noonan syndrome and Noonan-related syndrome

Criteria Provided
Single Submitter

rs_1300035418

1 SubmittersRCV001813612

NM_005188.4(CBL):c.1516C>T (p.Arg506Ter)

SNV
Germline

Chr11:119285053

Likely pathogenic

Noonan syndrome and Noonan-related syndrome

Criteria Provided
Single Submitter

rs_886041500

1 SubmittersRCV001813623

NM_152594.3(SPRED1):c.163T>C (p.Cys55Arg)

SNV
Germline

Chr15:38299503

Conflicting classifications of pathogenicity

Noonan syndrome and Noonan-related syndrome
Legius syndrome

Criteria Provided
Conflicting Classifications

rs_775334473

2 SubmittersRCV001813630 RCV002541487

NM_004333.6(BRAF):c.63G>A (p.Gly21=)

SNV
Germline

Chr7:140924641

Conflicting classifications of pathogenicity

Noonan syndrome and Noonan-related syndrome
RASopathy
Cardiovascular phenotype
BRAF-related disorder

Criteria Provided
Conflicting Classifications

rs_1158725219

4 SubmittersRCV001813637 RCV003120701 RCV003163949 RCV003892858

NM_005188.4(CBL):c.1925G>A (p.Ser642Asn)

SNV
Germline

Chr11:119285550

Conflicting classifications of pathogenicity

Noonan syndrome and Noonan-related syndrome
RASopathy

Criteria Provided
Conflicting Classifications

rs_571045498

2 SubmittersRCV001813650 RCV002542451

NM_005188.4(CBL):c.2049G>A (p.Val683=)

SNV
Germline

Chr11:119296930

Conflicting classifications of pathogenicity

Noonan syndrome and Noonan-related syndrome
RASopathy

Criteria Provided
Conflicting Classifications

rs_1950067375

2 SubmittersRCV001813651 RCV002074232

NM_002524.5(NRAS):c.179G>T (p.Gly60Val)

SNV
Germline

Chr1:114713911

Conflicting classifications of pathogenicity

Noonan syndrome and Noonan-related syndrome
Noonan syndrome 6

Criteria Provided
Conflicting Classifications

rs_267606920

2 SubmittersRCV001813662 RCV003992561

NM_006767.4(LZTR1):c.1428G>A (p.Gln476=)

SNV
Germline

Chr22:20993998

Conflicting classifications of pathogenicity

Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2147967090

3 SubmittersRCV001813663 RCV002388679 RCV002541491

NM_006767.4(LZTR1):c.1485G>A (p.Glu495=)

SNV
Germline

Chr22:20994139

Conflicting classifications of pathogenicity

Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

rs_1265536815

2 SubmittersRCV001813664 RCV002388680

NM_002755.4(MAP2K1):c.198C>T (p.Asp66=)

SNV
Germline

Chr15:66435144

Conflicting classifications of pathogenicity

Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
RASopathy

Criteria Provided
Conflicting Classifications

rs_56200325

3 SubmittersRCV001813665 RCV002422868 RCV002074233

NM_002755.4(MAP2K1):c.366C>T (p.Asn122=)

SNV
Germline

Chr15:66436820

Conflicting classifications of pathogenicity

Noonan syndrome and Noonan-related syndrome
RASopathy

Criteria Provided
Conflicting Classifications

rs_990673168

2 SubmittersRCV001813666 RCV002542452

NM_030662.4(MAP2K2):c.951C>T (p.Ala317=)

SNV
Germline

Chr19:4097312

Conflicting classifications of pathogenicity

Noonan syndrome and Noonan-related syndrome
RASopathy

Criteria Provided
Conflicting Classifications

rs_1041035741

2 SubmittersRCV001813673 RCV002074234

NM_030662.4(MAP2K2):c.237C>T (p.Gly79=)

SNV
Germline

Chr19:4117485

Conflicting classifications of pathogenicity

Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
RASopathy

Criteria Provided
Conflicting Classifications

rs_755173195

3 SubmittersRCV001813677 RCV002458621 RCV002542453

NM_002524.5(NRAS):c.42T>C (p.Val14=)

SNV
Germline

Chr1:114716119

Conflicting classifications of pathogenicity

Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1433972399

2 SubmittersRCV001813680 RCV002329765

NM_002834.5(PTPN11):c.1380-5C>T

SNV
Germline

Chr12:112488438

Conflicting classifications of pathogenicity

Noonan syndrome and Noonan-related syndrome
RASopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_765455455

3 SubmittersRCV001813681 RCV002077267 RCV002386575

NM_002880.4(RAF1):c.492A>G (p.Arg164=)

SNV
Germline

Chr3:12608855

Conflicting classifications of pathogenicity

Noonan syndrome and Noonan-related syndrome
RASopathy

Criteria Provided
Conflicting Classifications

rs_2059120434

2 SubmittersRCV001813687 RCV002074235

NM_007373.4(SHOC2):c.1047T>C (p.Gly349=)

SNV
Germline

Chr10:111004680

Conflicting classifications of pathogenicity

Noonan syndrome and Noonan-related syndrome
RASopathy

Criteria Provided
Conflicting Classifications

rs_199869304

2 SubmittersRCV001813696 RCV002074236

NM_005188.4(CBL):c.1930G>T (p.Asp644Tyr)

SNV
Germline

Chr11:119285555

Likely pathogenic

Noonan syndrome and Noonan-related syndrome

Criteria Provided
Single Submitter

rs_2135311043

1 SubmittersRCV001813702

NM_005633.4(SOS1):c.3610A>G (p.Ile1204Val)

SNV
Germline

Chr2:38986216

Conflicting classifications of pathogenicity

Noonan syndrome and Noonan-related syndrome
RASopathy
Fibromatosis, gingival, 1
Noonan syndrome 4
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_374497013

4 SubmittersRCV001813704 RCV001869622 RCV002468319 RCV002468320 RCV003299015

NM_005633.4(SOS1):c.1200G>A (p.Leu400=)

SNV
Germline

Chr2:39024012

Conflicting classifications of pathogenicity

Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_748636051

2 SubmittersRCV001813711 RCV002343871

NM_152594.3(SPRED1):c.951A>T (p.Ser317=)

SNV
Germline

Chr15:38351280

Conflicting classifications of pathogenicity

Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_899712805

2 SubmittersRCV001813724 RCV002370333

NM_006767.4(LZTR1):c.2350C>T (p.Gln784Ter)

SNV
Germline

Chr22:20996910

Conflicting classifications of pathogenicity

Noonan syndrome and Noonan-related syndrome
Noonan syndrome 10

Criteria Provided
Conflicting Classifications

rs_1489766065

2 SubmittersRCV001813726 RCV003339750

NM_152594.3(SPRED1):c.1248T>A (p.Cys416Ter)

SNV
Germline

Chr15:38351577

Likely pathogenic

Noonan syndrome and Noonan-related syndrome

Criteria Provided
Single Submitter

rs_2141016711

1 SubmittersRCV001813727

NM_002524.5(NRAS):c.108A>G (p.Ile36Met)

SNV
Germline

Chr1:114716053

Likely pathogenic

Noonan syndrome 6

Criteria Provided
Single Submitter

rs_2101743991

1 SubmittersRCV001822085

NM_007373.4(SHOC2):c.157G>A (p.Gly53Arg)

SNV
Germline

Chr10:110964515

Likely pathogenic

Noonan syndrome-like disorder with loose anagen hair 1

Criteria Provided
Single Submitter

rs_2134121169

1 SubmittersRCV002272501

NM_007373.4(SHOC2):c.520C>T (p.Leu174Phe)

SNV
Germline

Chr10:110964878

Likely pathogenic

Noonan syndrome

No Assertion Criteria Provided

rs_2134121762

1 SubmittersRCV002274220

NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly)

SNV
Germline

Chr12:112450509

Conflicting classifications of pathogenicity

not specified
Juvenile myelomonocytic leukemia
Metachondromatosis
Noonan syndrome 1
LEOPARD syndrome 1
PTPN11-related disorder

Criteria Provided
Conflicting Classifications

rs_397507519

3 SubmittersRCV001825135 RCV002478072 RCV004536350

NM_012250.6(RRAS2):c.67G>T (p.Gly23Cys)

SNV
Germline

Chr11:14358804

Pathogenic/Likely pathogenic

Condition: not provided
Noonan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2134048726

3 SubmittersRCV001837682 RCV003153250

NM_006767.4(LZTR1):c.743G>A (p.Gly248Glu)

SNV
Germline

Chr22:20990477

Likely pathogenic

Noonan syndrome

No Assertion Criteria Provided

rs_2147964105

1 SubmittersRCV001849896

NM_006939.4(SOS2):c.1732A>G (p.Lys578Glu)

SNV
Germline

Chr14:50159551

Conflicting classifications of pathogenicity

Noonan syndrome 9

Criteria Provided
Conflicting Classifications

rs_748480687

3 SubmittersRCV001919028

NM_006939.4(SOS2):c.374A>T (p.His125Leu)

SNV
Germline

Chr14:50199827

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_777300218

3 SubmittersRCV001871005 RCV002343932

NM_006939.4(SOS2):c.3815G>A (p.Arg1272His)

SNV
Germline

Chr14:50118528

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Noonan syndrome 9

Criteria Provided
Conflicting Classifications

rs_200104745

3 SubmittersRCV002352773 RCV002032246

NM_006767.4(LZTR1):c.1943-1G>A

SNV
Germline

Chr22:20995745

Likely pathogenic

Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Noonan syndrome 2
Schwannomatosis 2
Noonan syndrome 10
Schwannomatosis 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_1189015572

4 SubmittersRCV002023238 RCV002407299 RCV002507803 RCV003471272

NM_006939.4(SOS2):c.3772T>G (p.Ser1258Ala)

SNV
Germline

Chr14:50118571

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1344396759

3 SubmittersRCV001901914 RCV002343918

NM_006270.5(RRAS):c.81C>T (p.Ser27=)

SNV
Germline

Chr19:49640018

Conflicting classifications of pathogenicity

Noonan syndrome
RRAS-related disorder
not specified

Criteria Provided
Conflicting Classifications

rs_375821724

3 SubmittersRCV002022797 RCV003402044 RCV004046073

NM_006939.4(SOS2):c.3735T>G (p.Asp1245Glu)

SNV
Germline

Chr14:50118608

Conflicting classifications of pathogenicity

Noonan syndrome 9
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_752525400

4 SubmittersRCV001947466 RCV002282622 RCV003375391

NM_002834.5(PTPN11):c.691C>T (p.Arg231Ter)

SNV
Germline

Chr12:112455998

Pathogenic/Likely pathogenic

RASopathy
Noonan syndrome 1
Metachondromatosis
LEOPARD syndrome 1
Juvenile myelomonocytic leukemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_2038154558

2 SubmittersRCV001964503 RCV002503431

NM_006939.4(SOS2):c.3547C>T (p.Pro1183Ser)

SNV
Germline

Chr14:50118796

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_139401491

4 SubmittersRCV001901816 RCV002458772

NM_006939.4(SOS2):c.2730T>A (p.Phe910Leu)

SNV
Germline

Chr14:50139997

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_756711721

2 SubmittersRCV002020346 RCV003170569

NM_006939.4(SOS2):c.3698A>C (p.Asn1233Thr)

SNV
Germline

Chr14:50118645

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_201756168

5 SubmittersRCV002047869 RCV002346278 RCV003992601

NM_006767.4(LZTR1):c.1235G>A (p.Arg412His)

SNV
Germline

Chr22:20992879

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Noonan syndrome 10
Schwannomatosis 2
Noonan syndrome 2
not specified

Criteria Provided
Conflicting Classifications

rs_935736801

4 SubmittersRCV002041193 RCV002361410 RCV002486744 RCV003388084

NM_006939.4(SOS2):c.532C>G (p.Gln178Glu)

SNV
Germline

Chr14:50188679

Conflicting classifications of pathogenicity

Noonan syndrome 9
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_770603835

5 SubmittersRCV001878761 RCV002469418 RCV002343934

NM_001042492.3(NF1):c.1185+20T>G

SNV
Germline

Chr17:31201179

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, type 1
Juvenile myelomonocytic leukemia

Criteria Provided
Conflicting Classifications

rs_2066522265

2 SubmittersRCV002031073 RCV002486764

NM_006767.4(LZTR1):c.465C>G (p.Tyr155Ter)

SNV
Germline

Chr22:20988074

Pathogenic/Likely pathogenic

Noonan syndrome 10
Noonan syndrome 2
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Schwannomatosis 2
Condition: not provided
Noonan syndrome 2
Noonan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_753295968

8 SubmittersRCV002243491 RCV002331528 RCV003389264 RCV002037971 RCV003994364 RCV004017884

NM_006939.4(SOS2):c.592A>T (p.Asn198Tyr)

SNV
Germline

Chr14:50188619

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_753283972

2 SubmittersRCV002031753 RCV004044851

NM_001042492.3(NF1):c.1721+6T>C

SNV
Germline

Chr17:31221935

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Juvenile myelomonocytic leukemia
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis

Criteria Provided
Conflicting Classifications

rs_2144005065

2 SubmittersRCV002031899 RCV002498083

NM_006939.4(SOS2):c.121A>G (p.Asn41Asp)

SNV
Germline

Chr14:50204376

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_575983927

2 SubmittersRCV001952667 RCV004041990

NM_006767.4(LZTR1):c.2284C>T (p.Gln762Ter)

SNV
Germline

Chr22:20996760

Pathogenic

Condition: not provided
Schwannomatosis
Noonan syndrome 2
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_1924868328

3 SubmittersRCV001972551 RCV003483868 RCV004558763

NM_006270.5(RRAS):c.453+5G>A

SNV
Germline

Chr19:49636614

Conflicting classifications of pathogenicity

Noonan syndrome
RRAS-related disorder

Criteria Provided
Conflicting Classifications

rs_766707816

2 SubmittersRCV002022945 RCV003893079

NM_006939.4(SOS2):c.3782C>G (p.Thr1261Ser)

SNV
Germline

Chr14:50118561

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_780772018

3 SubmittersRCV001975565 RCV002344142

NM_006939.4(SOS2):c.2329C>T (p.Leu777Phe)

SNV
Germline

Chr14:50150063

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_151074097

2 SubmittersRCV002002579 RCV003375503

NM_005633.4(SOS1):c.7G>T (p.Ala3Ser)

SNV
Germline

Chr2:39120416

Conflicting classifications of pathogenicity

RASopathy
Cardiovascular phenotype
Noonan syndrome 4
Fibromatosis, gingival, 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_533757634

4 SubmittersRCV001913952 RCV002423053 RCV002491910 RCV003136306

NM_006939.4(SOS2):c.1714G>A (p.Val572Ile)

SNV
Germline

Chr14:50159569

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_762733592

2 SubmittersRCV001914245 RCV004044057

NM_006939.4(SOS2):c.3673G>C (p.Glu1225Gln)

SNV
Germline

Chr14:50118670

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_769329817

2 SubmittersRCV001866914 RCV004039022

NM_006939.4(SOS2):c.2275A>G (p.Ile759Val)

SNV
Germline

Chr14:50150117

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_956839910

2 SubmittersRCV001890398 RCV004041269

NM_006939.4(SOS2):c.2350C>T (p.Arg784Cys)

SNV
Germline

Chr14:50150042

Conflicting classifications of pathogenicity

Noonan syndrome 9

Criteria Provided
Conflicting Classifications

rs_760520078

2 SubmittersRCV002220629

NM_006939.4(SOS2):c.680C>G (p.Ala227Gly)

SNV
Germline

Chr14:50188531

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_756565236

2 SubmittersRCV002159719 RCV003161343

NM_006939.4(SOS2):c.88-5T>A

SNV
Germline

Chr14:50204414

Conflicting classifications of pathogenicity

Noonan syndrome 9
SOS2-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_767732779

3 SubmittersRCV002112626 RCV003893313 RCV004045875

NM_006939.4(SOS2):c.693T>C (p.Asp231=)

SNV
Germline

Chr14:50188518

Conflicting classifications of pathogenicity

Noonan syndrome 9
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2139733831

2 SubmittersRCV002096555 RCV003389899

NM_006767.4(LZTR1):c.1689G>A (p.Glu563=)

SNV
Germline

Chr22:20994631

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Noonan syndrome 10

Criteria Provided
Conflicting Classifications

rs_977829129

3 SubmittersRCV002138661 RCV002400364 RCV003325239

NM_006939.4(SOS2):c.2701G>A (p.Glu901Lys)

SNV
Germline

Chr14:50140026

Conflicting classifications of pathogenicity

not specified
Noonan syndrome 9

Criteria Provided
Conflicting Classifications

rs_556373963

2 SubmittersRCV002222879 RCV003774645

NM_006939.4(SOS2):c.1911A>T (p.Glu637Asp)

SNV
Germline

Chr14:50158588

Conflicting classifications of pathogenicity

not specified
Noonan syndrome 9

Criteria Provided
Conflicting Classifications

rs_751563078

2 SubmittersRCV002240110 RCV003754932

NM_006767.4(LZTR1):c.1078A>T (p.Lys360Ter)

SNV
Germline

Chr22:20992298

Likely pathogenic

Noonan syndrome 2
Schwannomatosis 2
Noonan syndrome 10

Criteria Provided
Single Submitter

rs_751308379

1 SubmittersRCV002244164

NM_006767.4(LZTR1):c.685T>C (p.Cys229Arg)

SNV
Germline

Chr22:20990419

Conflicting classifications of pathogenicity

Noonan syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_886041925

2 SubmittersRCV002249099 RCV003164353

NM_006767.4(LZTR1):c.1682G>A (p.Arg561His)

SNV
Germline

Chr22:20994624

Conflicting classifications of pathogenicity

Noonan syndrome 2
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Condition: not provided
LZTR1-related disorder
Schwannomatosis 2

Criteria Provided
Conflicting Classifications

rs_970027059

5 SubmittersRCV002249100 RCV002400401 RCV003738162 RCV004545265 RCV004572085

NM_005633.4(SOS1):c.1009T>C (p.Tyr337His)

SNV
Germline

Chr2:39035277

Likely pathogenic

Noonan syndrome 4

Criteria Provided
Single Submitter

rs_2124562542

1 SubmittersRCV002264900

NM_004985.5(KRAS):c.53C>T (p.Ala18Val)

SNV
Germline

Chr12:25245332

Pathogenic

Noonan syndrome 3

Criteria Provided
Single Submitter

rs_2135806030

1 SubmittersRCV002264903

NM_005633.4(SOS1):c.1770G>C (p.Glu590Asp)

SNV
Germline

Chr2:39022658

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome 4
Fibromatosis, gingival, 1
RASopathy

Criteria Provided
Conflicting Classifications

rs_553331572

3 SubmittersRCV002265502 RCV002488661 RCV003096001

NM_006912.6(RIT1):c.67A>G (p.Lys23Glu)

SNV
Germline

Chr1:155910695

Pathogenic

Noonan syndrome 8

Criteria Provided
Single Submitter

rs_869312687

1 SubmittersRCV002265526

NM_012250.6(RRAS2):c.68G>A (p.Gly23Asp)

SNV
Germline

Chr11:14358803

Pathogenic

Noonan syndrome 12
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1591495779

4 SubmittersRCV002272974 RCV003232571

NM_002834.5(PTPN11):c.1495T>C (p.Ser499Pro)

SNV
Germline

Chr12:112489071

Likely pathogenic

Noonan syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV002288423

NM_002709.3(PPP1CB):c.493G>C (p.Asp165His)

SNV
Germline

Chr2:28781815

Likely pathogenic

Noonan syndrome-like disorder with loose anagen hair 2

Criteria Provided
Single Submitter

1 SubmittersRCV002310598

NM_006912.6(RIT1):c.602A>G (p.Asn201Ser)

SNV
Germline

Chr1:155900446

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Noonan syndrome 8

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002358145 RCV003103257

NM_006270.5(RRAS):c.498G>A (p.Val166=)

SNV
Germline

Chr19:49635808

Conflicting classifications of pathogenicity

Noonan syndrome
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003096552 RCV004050333

NM_006939.4(SOS2):c.705T>G (p.Phe235Leu)

SNV
Germline

Chr14:50188506

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Noonan syndrome 9

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002365043 RCV003098459

NM_006912.6(RIT1):c.162T>A (p.Ile54=)

SNV
Germline

Chr1:155910451

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Noonan syndrome 8

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002401261 RCV003097036

NM_002880.4(RAF1):c.1850A>T (p.Asn617Ile)

SNV
Germline

Chr3:12584611

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Condition: not provided
Noonan syndrome 5

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002413000 RCV002466757 RCV003985107

NM_006767.4(LZTR1):c.2076T>A (p.Phe692Leu)

SNV
Germline

Chr22:20995969

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Noonan syndrome 2

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002422214 RCV003388630

NM_006939.4(SOS2):c.110C>T (p.Thr37Ile)

SNV
Germline

Chr14:50204387

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Noonan syndrome 9

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002428922 RCV003102110

NM_006767.4(LZTR1):c.401-1G>A

SNV
Germline

Chr22:20988009

Pathogenic

Schwannomatosis 2
Noonan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002466951 RCV003336763

NM_006767.4(LZTR1):c.993+2T>C

SNV
Germline

Chr22:20991831

Likely pathogenic

Noonan syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV002467408

NM_004985.5(KRAS):c.440A>T (p.Lys147Met)

SNV
Germline

Chr12:25225624

Likely pathogenic

Noonan syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV002468736

NM_002745.5(MAPK1):c.946T>C (p.Tyr316His)

SNV
Germline

Chr22:21772893

Likely pathogenic

Noonan syndrome 13

Criteria Provided
Single Submitter

1 SubmittersRCV002468743

NM_005633.4(SOS1):c.445G>A (p.Val149Ile)

SNV
Germline

Chr2:39056767

Likely pathogenic

Noonan syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV002468912

NM_002834.5(PTPN11):c.1493G>A (p.Arg498Gln)

SNV
Germline

Chr12:112489069

Likely pathogenic

Noonan syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV002471444

NM_006767.4(LZTR1):c.416A>G (p.Asp139Gly)

SNV
Germline

Chr22:20988025

Likely pathogenic

Noonan syndrome 10

Criteria Provided
Single Submitter

1 SubmittersRCV002470206

NM_006939.4(SOS2):c.2510T>C (p.Ile837Thr)

SNV
Germline

Chr14:50145327

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003051092 RCV004070281

NM_006939.4(SOS2):c.2243A>G (p.His748Arg)

SNV
Germline

Chr14:50150149

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003086474 RCV003294499

NM_006939.4(SOS2):c.550G>C (p.Val184Leu)

SNV
Germline

Chr14:50188661

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002628116 RCV003377901

NM_006939.4(SOS2):c.2241C>T (p.Ser747=)

SNV
Germline

Chr14:50150151

Conflicting classifications of pathogenicity

Noonan syndrome 9
SOS2-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002628915 RCV003898888

NM_006939.4(SOS2):c.3470A>G (p.His1157Arg)

SNV
Germline

Chr14:50120294

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002613851 RCV003375648

NM_006767.4(LZTR1):c.844C>T (p.Gln282Ter)

SNV
Germline

Chr22:20991680

Pathogenic/Likely pathogenic

Noonan syndrome 2
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002814351 RCV003167787

NM_006939.4(SOS2):c.1291G>A (p.Glu431Lys)

SNV
Germline

Chr14:50159992

Pathogenic

Noonan syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV002900123

NM_006939.4(SOS2):c.3935G>A (p.Arg1312Gln)

SNV
Germline

Chr14:50118408

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002938856 RCV003170642

NM_005633.4(SOS1):c.2973T>G (p.Phe991Leu)

SNV
Germline

Chr2:38997030

Conflicting classifications of pathogenicity

RASopathy
Noonan syndrome 4

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002904338 RCV003230299

NM_006939.4(SOS2):c.3761C>T (p.Thr1254Met)

SNV
Germline

Chr14:50118582

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002994910 RCV003308409

NM_006939.4(SOS2):c.1961C>T (p.Thr654Ile)

SNV
Germline

Chr14:50157095

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002996789 RCV003308422

NM_006767.4(LZTR1):c.690C>G (p.Asn230Lys)

SNV
Unknown

Chr22:20990424

Likely pathogenic

Noonan syndrome 1

No Assertion Criteria Provided

1 SubmittersRCV003151695

NM_012250.6(RRAS2):c.67G>A (p.Gly23Ser)

SNV
Germline

Chr11:14358804

Conflicting classifications of pathogenicity

Noonan syndrome 12
RRAS2-related disorder

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003152964 RCV003395714

NM_006939.4(SOS2):c.3076-19T>C

SNV
Germline

Chr14:50130781

Conflicting classifications of pathogenicity

not specified
Noonan syndrome 9

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003231023 RCV003779843

NM_002834.5(PTPN11):c.213T>A (p.Phe71Leu)

SNV
Unknown

Chr12:112450393

Likely pathogenic

Metachondromatosis
LEOPARD syndrome 1
Noonan syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003333581 RCV003333582 RCV003333580

NM_005633.4(SOS1):c.305C>T (p.Pro102Leu)

SNV
Germline

Chr2:39058713

Likely pathogenic

Noonan syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV003335797

NM_006767.4(LZTR1):c.1676T>A (p.Leu559Ter)

SNV
Germline

Chr22:20994618

Pathogenic

Noonan syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV003388821

NM_006939.4(SOS2):c.3773C>T (p.Ser1258Leu)

SNV
Germline

Chr14:50118570

Conflicting classifications of pathogenicity

SOS2-related disorder
Noonan syndrome 9

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003399808 RCV003778194

NM_004333.6(BRAF):c.741T>A (p.Phe247Leu)

SNV
Germline

Chr7:140801531

Pathogenic

Noonan syndrome 1

No Assertion Criteria Provided

1 SubmittersRCV003454374

NM_006506.5(RASA2):c.716C>T (p.Ser239Phe)

SNV
Germline

Chr3:141558917

Likely pathogenic

Noonan syndrome 1

No Assertion Criteria Provided

1 SubmittersRCV003454375

NM_002834.5(PTPN11):c.1187A>G (p.Tyr396Cys)

SNV
Germline

Chr12:112482168

Likely pathogenic

Noonan syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003514654

NM_006939.4(SOS2):c.3277C>G (p.Pro1093Ala)

SNV
Germline

Chr14:50130561

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003592995 RCV004369188

NM_006939.4(SOS2):c.1127C>T (p.Thr376Ile)

SNV
Germline

Chr14:50161551

Likely pathogenic

Noonan syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV003755523

NM_002834.5(PTPN11):c.787T>A (p.Tyr263Asn)

SNV
Germline

Chr12:112472974

Likely pathogenic

Noonan syndrome 1
Metachondromatosis
LEOPARD syndrome 1
Juvenile myelomonocytic leukemia

Criteria Provided
Single Submitter

1 SubmittersRCV003883338

NM_004985.5(KRAS):c.202A>T (p.Arg68Trp)

SNV
Unknown

Chr12:25227322

Likely pathogenic

Noonan syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV004566627