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 Axillary freckling Cafe au lait spots, multiple Neurofibroma Optic nerve glioma Juvenile myelomonocytic leukemia Café-au-lait macules with pulmonary stenosis Neurofibromatosis-Noonan syndrome Neurofibromatosis, familial spinal Neurofibromatosis, type 1 Pheochromocytoma Cardiovascular phenotype Hereditary cancer-predisposing syndrome Juvenile myelomonocytic leukemia Café-au-lait macules with pulmonary stenosis	Criteria Provided Multiple Submitters No Conflicts	CA251440	rs_137854550	21 SubmittersRCV000000364 RCV000489593 RCV000626644 RCV000762990 RCV002305424 RCV002310992 RCV003460397 RCV004798706
NM_001042492.3(NF1):c.5902C>T (p.Arg1968Ter)	SNV Germline/somatic	Chr17:31334927	Pathogenic	Neurofibromatosis, type 1 Condition: not provided Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Tibial pseudarthrosis Neurofibromatosis, familial spinal Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Juvenile myelomonocytic leukemia Juvenile myelomonocytic leukemia NF1-related disorder Neurofibromatosis-Noonan syndrome Neoplasm Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA325489	rs_137854552	22 SubmittersRCV000000371 RCV000418287 RCV000492774 RCV001009602 RCV000762995 RCV003460398 RCV004547450 RCV004562178 RCV004668704 RCV004558221
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 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	CA325494	rs_137854560	20 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 Juvenile myelomonocytic leukemia Café-au-lait macules with pulmonary stenosis Neurofibromatosis-Noonan syndrome Neurofibromatosis, familial spinal Neurofibromatosis, type 1 Juvenile myelomonocytic leukemia NF1-related disorder Neurofibromatosis-Noonan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA325499	rs_137854557	32 SubmittersRCV000000382 RCV000492667 RCV000757556 RCV001009573 RCV001257527 RCV001813925 RCV002504731 RCV003460400 RCV004737131 RCV004783716
NM_001042492.3(NF1):c.1070T>C (p.Leu357Pro)	SNV Germline	Chr17:31201044	Pathogenic/Likely pathogenic	Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Neurofibromatosis, familial spinal Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Juvenile myelomonocytic leukemia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA212552	rs_137854563	5 SubmittersRCV000000398 RCV000000399 RCV002496218 RCV002476903
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 Noonan syndrome-like disorder with loose anagen hair Condition: not provided Inborn genetic diseases Polycystic kidney disease 4 Noonan syndrome and Noonan-related syndrome Noonan syndrome-like disorder with loose anagen hair 1 Pectus excavatum SHOC2-related disorder	Reviewed By Expert Panel	CA118524	rs_267607048	43 SubmittersRCV000007223 RCV000149834 RCV000208379 RCV000853278 RCV000213000 RCV000624656 RCV002221469 RCV001813181 RCV003330311 RCV004752691
NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His)	SNV Germline	Chr19:4110559	Likely pathogenic	Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 4 Condition: not provided RASopathy Noonan syndrome and Noonan-related syndrome MAP2K2-related disorder Noonan syndrome 1	Reviewed By Expert Panel	CA119417	rs_121434499	10 SubmittersRCV000008763 RCV000043675 RCV000158022 RCV000521479 RCV001813182 RCV003390660 RCV003450621
NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu)	SNV Germline/somatic	Chr11:14294844	Pathogenic	Noonan syndrome 12 Ovarian neoplasm Noonan syndrome	Reviewed By Expert Panel	CA120437	rs_113954997	5 SubmittersRCV000010054 RCV001072115 RCV000852398
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)	SNV Germline/somatic	Chr12:25245347	Pathogenic	Breast adenocarcinoma Non-small cell lung carcinoma Juvenile myelomonocytic leukemia Autoimmune lymphoproliferative syndrome type 4 Condition: not provided Inborn genetic diseases OCULOECTODERMAL SYNDROME, SOMATIC Nevus sebaceous RASopathy Noonan syndrome and Noonan-related syndrome Encephalocraniocutaneous lipomatosis KRAS-related disorder Neoplasm Familial pancreatic carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA122534	rs_112445441	15 SubmittersRCV000013409 RCV000038269 RCV000144967 RCV000144968 RCV001092389 RCV001266168 RCV000791297 RCV001526657 RCV001857340 RCV001813183 RCV001839444 RCV004549358 RCV004668723 RCV004813034
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg)	SNV Germline	Chr12:25227346	Pathogenic	Cardiofaciocutaneous syndrome 2 Condition: not provided RASopathy Inborn genetic diseases Cardio-facio-cutaneous syndrome Noonan syndrome Cardio-facio-cutaneous syndrome Noonan syndrome 3	Reviewed By Expert Panel	CA273416	rs_104894359	9 SubmittersRCV000013416 RCV000254661 RCV000157935 RCV001267316 RCV000844635 RCV000521390 RCV003313917
NM_004985.5(KRAS):c.458A>T (p.Asp153Val)	SNV Germline	Chr12:25209904	Pathogenic	Noonan syndrome 3 Cardiofaciocutaneous syndrome 2 RASopathy Condition: not provided not specified Noonan syndrome 11 conditions Noonan syndrome Cardio-facio-cutaneous syndrome Noonan syndrome 1 Cardiovascular phenotype	Reviewed By Expert Panel	CA256478	rs_104894360	16 SubmittersRCV000013418 RCV000013417 RCV000157940 RCV000212501 RCV000507330 RCV000523200 RCV000763307 RCV000844634 RCV003450634 RCV004018621
NM_004985.5(KRAS):c.173C>T (p.Thr58Ile)	SNV Germline	Chr12:25227351	Pathogenic	Noonan syndrome 3 Noonan syndrome Condition: not provided RASopathy	Reviewed By Expert Panel	CA256480	rs_104894364	7 SubmittersRCV000013419 RCV000211785 RCV000157933 RCV000704828
NM_004985.5(KRAS):c.40G>A (p.Val14Ile)	SNV Germline/somatic	Chr12:25245345	Pathogenic	Noonan syndrome 3 Endometrial carcinoma RASopathy Inborn genetic diseases Cardio-facio-cutaneous syndrome Noonan syndrome Noonan syndrome and Noonan-related syndrome Condition: not provided Noonan syndrome	Reviewed By Expert Panel	CA156358	rs_104894365	21 SubmittersRCV000013420 RCV000119792 RCV000157945 RCV001266727 RCV000844637 RCV001813184 RCV000212499 RCV000521254
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 Autoimmune lymphoproliferative syndrome type 4 Cardiofaciocutaneous syndrome 2 Noonan syndrome 3 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 Noonan syndrome Inborn genetic diseases	Reviewed By Expert Panel	CA234191	rs_104894361	4 SubmittersRCV000013425 RCV000153427 RCV000520745 RCV000623267
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu)	SNV Germline	Chr12:25245372	Pathogenic/Likely pathogenic	Noonan syndrome 3 RASopathy Condition: not provided Prostate cancer, hereditary, 1 Noonan syndrome KRAS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA250291	rs_193929331	11 SubmittersRCV000013427 RCV000149836 RCV000364781 RCV002291547 RCV000605141 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 Condition: not provided Noonan syndrome 3 Lip and oral cavity carcinoma Epidermal nevus	Criteria Provided Multiple Submitters No Conflicts	CA122547	rs_28933406	5 SubmittersRCV000013434 RCV000022795 RCV000681435 RCV000587258 RCV001255683 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 Nevus sebaceous Epidermal nevus with urothelial cancer, somatic Condition: not provided RASopathy Wooly hair nevus Lip and oral cavity carcinoma Rhabdomyosarcoma Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype See cases HRAS-related disorder Noonan syndrome 1 Epidermal nevus 6 conditions	Reviewed By Expert Panel	CA122549	rs_104894229	41 SubmittersRCV000013435 RCV000013436 RCV000029209 RCV000022796 RCV000081295 RCV000149828 RCV000487471 RCV001255689 RCV001257537 RCV001813185 RCV002453256 RCV003156059 RCV003398496 RCV003450635 RCV003450636 RCV004795404
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)	SNV Germline	Chr11:534288	Pathogenic	Costello syndrome Condition: not provided Inborn genetic diseases 6 conditions Noonan syndrome and Noonan-related syndrome Rhabdomyosarcoma	Criteria Provided Multiple Submitters No Conflicts	CA256486	rs_104894230	10 SubmittersRCV000013437 RCV000207503 RCV000623953 RCV000762848 RCV001813186 RCV001257536
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp)	SNV Germline	Chr11:534285	Pathogenic/Likely pathogenic	Costello syndrome Condition: not provided RASopathy Non-immune hydrops fetalis Noonan syndrome and Noonan-related syndrome 6 conditions HRAS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA256488	rs_104894226	15 SubmittersRCV000013438 RCV000157913 RCV000781469 RCV001376018 RCV001813187 RCV002476960 RCV003390677
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)	SNV Germline	Chr11:534286	Pathogenic	Costello syndrome RASopathy Condition: not provided 6 conditions Noonan syndrome Noonan syndrome and Noonan-related syndrome Linear nevus sebaceous syndrome HRAS-related disorder	Reviewed By Expert Panel	CA295247	rs_104894228	17 SubmittersRCV000013440 RCV000149831 RCV000207504 RCV000762847 RCV000678903 RCV001813188 RCV004767004 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 Lip and oral cavity carcinoma Non-immune hydrops fetalis Noonan syndrome and Noonan-related syndrome HRAS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA122555	rs_104894230	14 SubmittersRCV000013446 RCV000029210 RCV000038460 RCV000149830 RCV000212496 RCV001255681 RCV001375956 RCV001813189 RCV004739303
NM_005633.4(SOS1):c.797C>A (p.Thr266Lys)	SNV Germline	Chr2:39051211	Pathogenic	Noonan syndrome 4 Noonan syndrome RASopathy Condition: not provided Noonan syndrome 4 Fibromatosis, gingival, 1 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 Noonan syndrome Condition: not provided RASopathy Noonan syndrome 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA235346	rs_137852813	13 SubmittersRCV000013730 RCV000211854 RCV000157691 RCV000554031 RCV000856805 RCV002415412
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly)	SNV Germline	Chr2:39022774	Pathogenic	Noonan syndrome 4 Noonan syndrome 4 Fibromatosis, gingival, 1 Cardiovascular phenotype Noonan syndrome Condition: not provided RASopathy	Reviewed By Expert Panel	CA235350	rs_137852814	28 SubmittersRCV000013731 RCV000515160 RCV002399321 RCV000156980 RCV000157693 RCV000159174
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser)	SNV Germline	Chr2:39022772	Pathogenic	Noonan syndrome 4 Condition: not provided Noonan syndrome RASopathy Noonan syndrome 4 Fibromatosis, gingival, 1 Noonan syndrome and Noonan-related syndrome Noonan syndrome 1	Reviewed By Expert Panel	CA256580	rs_267607079	13 SubmittersRCV000013732 RCV000159177 RCV000156992 RCV000654947 RCV000763086 RCV000787998 RCV000856746
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 LEOPARD syndrome 1 Metachondromatosis Juvenile myelomonocytic leukemia Noonan syndrome 1 Noonan syndrome and Noonan-related syndrome Noonan syndrome Condition: not provided LEOPARD syndrome 1 Noonan syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA256749	rs_121918453	16 SubmittersRCV000014252 RCV000033471 RCV000762883 RCV001813190 RCV000157001 RCV000212890 RCV000576667
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)	SNV Germline	Chr12:112450395	Pathogenic/Likely pathogenic	Noonan syndrome 1 Noonan syndrome 3 Noonan syndrome Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype Condition: not provided LEOPARD syndrome 1 Metachondromatosis Juvenile myelomonocytic leukemia Noonan syndrome 1 RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA235319	rs_121918454	20 SubmittersRCV000014253 RCV000587329 RCV000157006 RCV001813191 RCV002426502 RCV000157679 RCV000515213 RCV000707460
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)	SNV Germline	Chr12:112477719	Pathogenic	Noonan syndrome 1 RASopathy Condition: not provided Noonan syndrome LEOPARD syndrome 1 Juvenile myelomonocytic leukemia Noonan syndrome 1 Metachondromatosis LEOPARD syndrome 1 Noonan syndrome 1 Cardiovascular phenotype not specified LEOPARD syndrome 1 Noonan syndrome 1 Metachondromatosis LEOPARD syndrome 1 Thrombocytopenia Abnormal bleeding Hereditary cancer-predisposing syndrome Noonan syndrome and Noonan-related syndrome Metachondromatosis Male infertility with azoospermia or oligozoospermia due to single gene mutation PTPN11-related disorder	Reviewed By Expert Panel	CA220158	rs_28933386	72 SubmittersRCV000014254 RCV000033516 RCV000077863 RCV000156977 RCV000515324 RCV000576594 RCV000621227 RCV000999988 RCV000850589 RCV001253546 RCV001270562 RCV001293867 RCV001813192 RCV003147284 RCV003991568 RCV004541002
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)	SNV Germline	Chr12:112477720	Pathogenic	Noonan syndrome 1 RASopathy LEOPARD syndrome 1 Noonan syndrome 1 Noonan syndrome and Noonan-related syndrome LEOPARD syndrome 1 Metachondromatosis Juvenile myelomonocytic leukemia Noonan syndrome 1 PTPN11-related disorder Noonan syndrome Condition: not provided Noonan syndrome 3 LEOPARD syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA235328	rs_121918455	37 SubmittersRCV000014255 RCV000033518 RCV001027696 RCV001813193 RCV000515421 RCV004532339 RCV000037669 RCV000157682 RCV000588570 RCV001197417
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)	SNV Germline	Chr12:112473023	Pathogenic/Likely pathogenic	Noonan syndrome with multiple lentigines RASopathy LEOPARD syndrome 1 Condition: not provided CBL-related disorder Noonan syndrome 1 Cardiovascular phenotype LEOPARD syndrome 1 Juvenile myelomonocytic leukemia Noonan syndrome 1 Metachondromatosis Noonan syndrome with multiple lentigines Noonan syndrome not specified Noonan syndrome and Noonan-related syndrome PTPN11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA220149	rs_121918456	32 SubmittersRCV000030620 RCV000033504 RCV000055890 RCV000077859 RCV000492270 RCV000577894 RCV000617951 RCV000768062 RCV000824744 RCV001000775 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 LEOPARD syndrome 1 Juvenile myelomonocytic leukemia Noonan syndrome 1 Metachondromatosis Juvenile myelomonocytic leukemia Noonan syndrome Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype PTPN11-related disorder	Reviewed By Expert Panel	CA234749	rs_121918460	25 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 LEOPARD syndrome 1 Juvenile myelomonocytic leukemia Noonan syndrome 1 Metachondromatosis Metachondromatosis PTPN11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA177665	rs_121918461	24 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	RASopathy LEOPARD syndrome 1 Condition: not provided Noonan syndrome 1 Noonan syndrome Noonan syndrome with multiple lentigines LEOPARD syndrome 1 Juvenile myelomonocytic leukemia Noonan syndrome 1 Metachondromatosis PTPN11-related disorder Hypertrophic cardiomyopathy Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype	Reviewed By Expert Panel	CA220134	rs_121918457	40 SubmittersRCV000033533 RCV000055884 RCV000077851 RCV000106323 RCV000157014 RCV000208002 RCV000515406 RCV000723326 RCV000853462 RCV001813197 RCV002390104
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr)	SNV Germline	Chr12:112489080	Pathogenic	Noonan syndrome 1 Noonan syndrome Condition: not provided Juvenile myelomonocytic leukemia Noonan syndrome RASopathy LEOPARD syndrome 1 Metachondromatosis Juvenile myelomonocytic leukemia Noonan syndrome 1 Cardiovascular phenotype PTPN11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA180739	rs_121918458	13 SubmittersRCV000014260 RCV000156995 RCV000212897 RCV000033543 RCV001851849 RCV002490364 RCV004984639 RCV004532342
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)	SNV Germline	Chr12:112450368	Pathogenic	Noonan syndrome 1 RASopathy Condition: not provided Noonan syndrome LEOPARD syndrome 1 Juvenile myelomonocytic leukemia Noonan syndrome 1 Metachondromatosis Noonan syndrome 3 Lymphoma B lymphoblastic leukemia lymphoma, no ICD-O subtype LEOPARD syndrome 1 Noonan syndrome 1 Metachondromatosis Noonan syndrome and Noonan-related syndrome Metachondromatosis LEOPARD syndrome 1 PTPN11-related disorder	Reviewed By Expert Panel	CA220146	rs_121918459	46 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 LEOPARD syndrome 1 Metachondromatosis Juvenile myelomonocytic leukemia Noonan syndrome 1 Metachondromatosis RASopathy Noonan syndrome Condition: not provided Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype LEOPARD syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA256752	rs_121918462	19 SubmittersRCV000014262 RCV000515312 RCV003147287 RCV000033475 RCV000156985 RCV000212891 RCV001813199 RCV002415414 RCV003147288
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 Metachondromatosis LEOPARD syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA204408	rs_121918463	28 SubmittersRCV000014263 RCV000037663 RCV000077862 RCV000190417 RCV000458650 RCV001376066 RCV001813200 RCV004532343 RCV004562207 RCV004562208
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys)	SNV Germline/somatic	Chr12:112450406	Conflicting classifications of pathogenicity	Juvenile myelomonocytic leukemia Noonan syndrome Noonan syndrome 1 RASopathy Condition: not provided Malignant neoplastic disease PTPN11-related disorder	Criteria Provided Conflicting Classifications	CA123038	rs_121918464	11 SubmittersRCV000014264 RCV000156974 RCV004813039 RCV000033476 RCV000212892 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 Noonan syndrome RASopathy Condition: not provided PTPN11-related disorder Cardiovascular phenotype LEOPARD syndrome 1 Metachondromatosis Juvenile myelomonocytic leukemia Noonan syndrome 1 Noonan syndrome and Noonan-related syndrome Noonan syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA235322	rs_121918466	30 SubmittersRCV000014268 RCV000037641 RCV000033480 RCV000157680 RCV004532344 RCV002453257 RCV000515381 RCV001813202 RCV000590740
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr)	SNV Germline	Chr12:112488444	Pathogenic	Noonan syndrome with multiple lentigines Condition: not provided LEOPARD syndrome 1 RASopathy not specified PTPN11-related disorder Noonan syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA261534	rs_121918468	12 SubmittersRCV000037611 RCV000033530 RCV000055882 RCV000529342 RCV001002017 RCV004532345 RCV001089941
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala)	SNV Germline	Chr12:112488454	Pathogenic	Condition: not provided RASopathy LEOPARD syndrome 1 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 SubmittersRCV000077850 RCV000033531 RCV000055883 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 3 Noonan syndrome with multiple lentigines Noonan syndrome with multiple lentigines Noonan syndrome Noonan syndrome 1 LEOPARD syndrome 1 Noonan syndrome 1 PTPN11-related disorder	Reviewed By Expert Panel	CA256758	rs_121918470	15 SubmittersRCV000014272 RCV000033554 RCV000210036 RCV000586289 RCV000520822 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 RASopathy PTPN11-related disorder Cardiovascular phenotype LEOPARD syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA256761	rs_121918470	11 SubmittersRCV000014273 RCV000414743 RCV000780654 RCV004734518 RCV004018624 RCV001002770
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)	SNV Germline	Chr12:112419116	Pathogenic/Likely pathogenic	Noonan syndrome 1 Metachondromatosis RASopathy LEOPARD syndrome 1 Metachondromatosis Juvenile myelomonocytic leukemia Noonan syndrome 1 Noonan syndrome LEOPARD syndrome 1 Condition: not provided See cases	Criteria Provided Multiple Submitters No Conflicts	CA256764	rs_267606990	19 SubmittersRCV000014277 RCV000988912 RCV000694389 RCV002496356 RCV000211847 RCV004795408 RCV000033445 RCV003156060
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 Noonan syndrome 1 Cardiofaciocutaneous syndrome 3 Melorheostosis Noonan syndrome 1 MAP2K1-related disorder Cardiovascular phenotype	Reviewed By Expert Panel	CA280036	rs_121908595	32 SubmittersRCV000043672 RCV000208757 RCV000207506 RCV000541525 RCV000763362 RCV001197351 RCV003450638 RCV004532347 RCV004984640
NM_005188.4(CBL):c.1100A>C (p.Gln367Pro)	SNV Germline	Chr11:119278170	Pathogenic/Likely pathogenic	RASopathy Condition: not provided Inborn genetic diseases CBL-related disorder Noonan syndrome and Noonan-related syndrome Noonan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA123484	rs_267606704	13 SubmittersRCV000702464 RCV000033352 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 See cases Juvenile myelomonocytic leukemia CBL-related disorder RASopathy Juvenile myelomonocytic leukemia CBL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA123492	rs_267606706	14 SubmittersRCV000014822 RCV000441724 RCV002274879 RCV003315401 RCV003387502 RCV000691502 RCV001527385
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg)	SNV Germline/somatic	Chr1:114716124	Likely pathogenic	Carcinoma of colon Large congenital melanocytic nevus Acute myeloid leukemia Condition: not provided Noonan syndrome 6	Criteria Provided Multiple Submitters No Conflicts	CA151261	rs_121434595	4 SubmittersRCV000014913 RCV000114743 RCV000438070 RCV004767008 RCV001781267
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)	SNV Germline/somatic	Chr1:114713908	Pathogenic	Thyroid cancer, nonmedullary, 2 Non-small cell lung carcinoma Linear nevus sebaceous syndrome Neoplasm Epidermal nevus Large congenital melanocytic nevus Neurocutaneous melanocytosis Condition: not provided Noonan syndrome 6	Criteria Provided Multiple Submitters No Conflicts	CA123618	rs_11554290	9 SubmittersRCV000014914 RCV000037574 RCV000148032 RCV004668730 RCV000032847 RCV000114744 RCV000114745 RCV000413804 RCV003992155
NM_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 Acute megakaryoblastic leukemia in down syndrome	Criteria Provided Multiple Submitters No Conflicts	CA123620	rs_121434596	6 SubmittersRCV000014915 RCV000022690 RCV000144962 RCV000157672 RCV001293767
NM_002524.5(NRAS):c.149C>T (p.Thr50Ile)	SNV Germline	Chr1:114713941	Pathogenic	Noonan syndrome 6 Noonan syndrome 1 RASopathy Noonan syndrome	Reviewed By Expert Panel	CA257019	rs_267606921	7 SubmittersRCV000014916 RCV000208537 RCV000463185 RCV000211835
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu)	SNV Germline	Chr1:114713911	Pathogenic	Noonan syndrome 6 Noonan syndrome 1 Condition: not provided RASopathy Cardiovascular phenotype NRAS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA257021	rs_267606920	8 SubmittersRCV000014917 RCV000208552 RCV000158982 RCV001382056 RCV004984642 RCV003415702
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)	SNV Germline	Chr3:12604200	Pathogenic	Noonan syndrome 5 LEOPARD syndrome 2 RASopathy Noonan syndrome Condition: not provided Noonan syndrome with multiple lentigines Noonan syndrome Noonan syndrome 1 Noonan syndrome and Noonan-related syndrome RAF1-related disorder See cases Cardiovascular phenotype Noonan syndrome with multiple lentigines Dilated cardiomyopathy 1NN LEOPARD syndrome 2 Noonan syndrome 5	Reviewed By Expert Panel	CA235334	rs_80338796	41 SubmittersRCV000014985 RCV000014986 RCV000149826 RCV000157426 RCV000157685 RCV000824754 RCV000856803 RCV001813205 RCV001731288 RCV003231105 RCV002399323 RCV000020509 RCV000515222
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser)	SNV Germline	Chr3:12604189	Pathogenic	Noonan syndrome 5 Primary familial hypertrophic cardiomyopathy Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype Noonan syndrome RASopathy Inborn genetic diseases Noonan syndrome 1 Condition: not provided	Reviewed By Expert Panel	CA257062	rs_121434594	13 SubmittersRCV000014987 RCV000208421 RCV001813206 RCV000618568 RCV000211849 RCV000468714 RCV000622893 RCV003450640 RCV000159076
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	Chr3:12584624	Pathogenic	Noonan syndrome 5 Noonan syndrome with multiple lentigines LEOPARD syndrome 2 RASopathy Condition: not provided Noonan syndrome RAF1-related disorder Noonan syndrome Noonan syndrome with multiple lentigines Hypertrophic cardiomyopathy 1	Reviewed By Expert Panel	CA257066	rs_80338797	11 SubmittersRCV000014990 RCV000020508 RCV000014989 RCV000159089 RCV000254689 RCV000440827 RCV004532353 RCV000824753 RCV001256891
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu)	SNV Germline/somatic	Chr7:140781617	Pathogenic	Carcinoma of colon RASopathy Condition: not provided Cardio-facio-cutaneous syndrome Cardio-facio-cutaneous syndrome Noonan syndrome	Reviewed By Expert Panel	CA250636	rs_121913348	7 SubmittersRCV000014997 RCV000033304 RCV000207512 RCV001261044 RCV000844618
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro)	SNV Germline	Chr7:140801536	Pathogenic	Cardiofaciocutaneous syndrome 1 Cardio-facio-cutaneous syndrome Noonan 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 Cardio-facio-cutaneous syndrome Noonan syndrome Noonan syndrome 1 Noonan syndrome and Noonan-related syndrome Noonan syndrome 7 Cardio-facio-cutaneous syndrome Condition: not provided RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA123651	rs_121913369	11 SubmittersRCV000015003 RCV000033333 RCV000208539 RCV001813207 RCV000030948 RCV002271369 RCV000505705 RCV002513056
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)	SNV Germline	Chr7:140801502	Pathogenic	Cardiofaciocutaneous syndrome 1 RASopathy Condition: not provided Cardio-facio-cutaneous syndrome Noonan syndrome 7 LEOPARD syndrome 3 Cardiofaciocutaneous syndrome 1 Noonan syndrome 7 LEOPARD syndrome 3 Noonan syndrome and Noonan-related syndrome Noonan syndrome 1 6 conditions Cardiovascular phenotype BRAF-related disorder	Reviewed By Expert Panel	CA222583	rs_180177035	33 SubmittersRCV000015007 RCV000033289 RCV000080904 RCV000208766 RCV001027771 RCV001261967 RCV001329219 RCV001813208 RCV001813744 RCV003224098 RCV004018628 RCV004752707
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)	SNV Germline	Chr7:140781602	Pathogenic	Cardiofaciocutaneous syndrome 1 Condition: not provided not specified Noonan syndrome and Noonan-related syndrome Noonan syndrome 1 RASopathy Cardio-facio-cutaneous syndrome Noonan syndrome 7	Reviewed By Expert Panel	CA279970	rs_121913355	18 SubmittersRCV000015008 RCV000212152 RCV000506575 RCV001813209 RCV003450641 RCV000033307 RCV000211748 RCV002287336
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 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA279972	rs_180177037	9 SubmittersRCV000015010 RCV000207517 RCV000779848 RCV001813210 RCV004795412
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 Cardiovascular phenotype Condition: not provided Cardio-facio-cutaneous syndrome RASopathy Noonan syndrome 1	Reviewed By Expert Panel	CA279976	rs_180177040	17 SubmittersRCV000015013 RCV004018631 RCV000033329 RCV000211751 RCV000474979 RCV003450642
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 7 LEOPARD syndrome 3 Lung carcinoma Noonan syndrome 1 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	Chr3:12585745	Pathogenic	Noonan syndrome Noonan syndrome with multiple lentigines RASopathy Cardiovascular phenotype Condition: not provided	Reviewed By Expert Panel	CA261612	rs_80338799	6 SubmittersRCV000037676 RCV000020507 RCV000523483 RCV000621393 RCV000159086
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 RASopathy Cardiofaciocutaneous syndrome 1 Noonan syndrome 1 LEOPARD syndrome 3 Noonan syndrome 7 Lung carcinoma Cardiofaciocutaneous syndrome 1 Cardio-facio-cutaneous syndrome BRAF-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA259660	rs_387906660	19 SubmittersRCV000022678 RCV000033281 RCV000208540 RCV000211753 RCV000545320 RCV000515432 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 Cardiofaciocutaneous syndrome 1 Noonan syndrome 1 LEOPARD syndrome 3 Noonan syndrome 7 Lung carcinoma RASopathy Cardiofaciocutaneous syndrome 1 LEOPARD syndrome 3 Noonan syndrome 7 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	5 SubmittersRCV000022682 RCV000208560 RCV000191066 RCV001781297
NM_005188.4(CBL):c.1150T>C (p.Cys384Arg)	SNV Germline	Chr11:119278220	Conflicting classifications of pathogenicity	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Condition: not provided RASopathy	Criteria Provided Conflicting Classifications	CA128665	rs_387906664	3 SubmittersRCV000022698 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_005188.4(CBL):c.1112A>G (p.Tyr371Cys)	SNV Germline	Chr11:119278182	Conflicting classifications of pathogenicity	Juvenile myelomonocytic leukemia Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Condition: not provided	Criteria Provided Conflicting Classifications	CA128671	rs_387906666	3 SubmittersRCV000022700 RCV000211127 RCV002223763
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 NEVUS SPILUS, SOMATIC SPITZ NEVUS, SOMATIC Costello syndrome Lip and oral cavity carcinoma Non-immune hydrops fetalis Noonan syndrome and Noonan-related syndrome cutaneous-skeletal hypophosphatemia syndrome Epidermolytic nevus HRAS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA129950	rs_104894228	10 SubmittersRCV000029213 RCV000029212 RCV000032852 RCV000173005 RCV000173006 RCV001781319 RCV001255682 RCV001376004 RCV001813211 RCV001849283 RCV003458340 RCV004739310
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 Noonan syndrome 6 Noonan syndrome and Noonan-related syndrome RASopathy Autoimmune lymphoproliferative syndrome type 4 NRAS-related disorder Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA130425	rs_121913237	11 SubmittersRCV000032849 RCV000144963 RCV000158980 RCV001781333 RCV001813214 RCV001852659 RCV003221788 RCV003415756 RCV004018703
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 Cardiofaciocutaneous syndrome 1 Noonan syndrome 1 LEOPARD syndrome 3 Noonan syndrome 7 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	Noonan syndrome and Noonan-related syndrome RASopathy Neurodevelopmental delay Condition: not provided Noonan syndrome with multiple lentigines Cardio-facio-cutaneous syndrome	Reviewed By Expert Panel	CA280029	rs_397507466	6 SubmittersRCV000788012 RCV000688777 RCV002273939 RCV000033284 RCV000055897 RCV000037957
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	Condition: not provided Inborn genetic diseases RASopathy Cardio-facio-cutaneous syndrome Noonan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA280030	rs_397507469	4 SubmittersRCV000212151 RCV000624665 RCV003539764 RCV000033288
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val)	SNV Germline/somatic	Chr7:140781617	Pathogenic/Likely pathogenic	Non-small cell lung carcinoma RASopathy Noonan syndrome and Noonan-related syndrome Cardiofaciocutaneous syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA135076	rs_121913348	6 SubmittersRCV000037914 RCV000033302 RCV001813221 RCV002250499 RCV001811232
NM_004333.6(BRAF):c.1403T>C (p.Phe468Ser)	SNV Germline	Chr7:140781605	Pathogenic/Likely pathogenic	Condition: not provided Cardio-facio-cutaneous syndrome RASopathy Noonan syndrome and Noonan-related syndrome Cardiofaciocutaneous syndrome 1 See cases BRAF-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA280002	rs_397507473	8 SubmittersRCV000033305 RCV000037917 RCV000797502 RCV001813222 RCV001293860 RCV002251944 RCV003407389
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	RASopathy Noonan syndrome Cardiofaciocutaneous syndrome 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA281977	rs_180177039	5 SubmittersRCV000822490 RCV001261045 RCV001089762 RCV000033316
NM_004333.6(BRAF):c.1513C>T (p.Leu505Phe)	SNV Germline	Chr7:140777995	Conflicting classifications of pathogenicity	Noonan syndrome RASopathy Condition: not provided	Criteria Provided Conflicting Classifications	CA281980	rs_397507477	3 SubmittersRCV000824923 RCV002513320 RCV000033319
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	Chr7:140753348	Pathogenic	RASopathy Condition: not provided Cardio-facio-cutaneous syndrome Cardio-facio-cutaneous syndrome Noonan syndrome Cardiofaciocutaneous syndrome 1 Inborn genetic diseases	Reviewed By Expert Panel	CA220161	rs_397507483	12 SubmittersRCV000033332 RCV000077865 RCV000208758 RCV000844615 RCV000856749 RCV001265809
NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile)	SNV Germline	Chr7:140753339	Pathogenic	Condition: not provided Noonan syndrome Cardiofaciocutaneous syndrome 1 RASopathy	Reviewed By Expert Panel	CA281995	rs_121913375	4 SubmittersRCV000033334 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 Cardiofaciocutaneous syndrome 1 Noonan syndrome 7	Criteria Provided Multiple Submitters No Conflicts	CA282001	rs_397507484	7 SubmittersRCV000033336 RCV000824928 RCV003321487 RCV002051799 RCV002510565
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	Noonan syndrome Condition: not provided RASopathy 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 SubmittersRCV000150893 RCV000157667 RCV000157946 RCV000506533 RCV000576784 RCV001095664 RCV001253410 RCV003224112
NM_004985.5(KRAS):c.101C>T (p.Pro34Leu)	SNV Germline	Chr12:25245284	Pathogenic	Condition: not provided Noonan syndrome RASopathy Noonan syndrome 1 Noonan syndrome 3	Reviewed By Expert Panel	CA235301	rs_104894366	7 SubmittersRCV000157668 RCV000150892 RCV000232330 RCV003450654 RCV003152670
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 KRAS-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA261707	rs_104894360	5 SubmittersRCV000038274 RCV000157939 RCV000526276 RCV004739314
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg)	SNV Germline	Chr1:114716127	Pathogenic	Condition: not provided Increased nuchal translucency Noonan syndrome 6	Criteria Provided Multiple Submitters No Conflicts	CA297030	rs_121913250	5 SubmittersRCV000158985 RCV001526619 RCV001781335
NM_002524.5(NRAS):c.35G>T (p.Gly12Val)	SNV Germline/somatic	Chr1:114716126	Pathogenic/Likely pathogenic	Noonan syndrome Condition: not provided RASopathy Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA261525	rs_121913237	6 SubmittersRCV000037576 RCV000158986 RCV001377735 RCV004668746
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 Cardiovascular phenotype Noonan syndrome and Noonan-related syndrome	Criteria Provided Conflicting Classifications	CA134569	rs_143020946	10 SubmittersRCV000037577 RCV000587570 RCV001100796 RCV001080827 RCV002453281 RCV001813240
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala)	SNV Germline	Chr12:112446385	Conflicting classifications of pathogenicity	Condition: not provided Noonan syndrome RASopathy Noonan syndrome 1 Noonan syndrome and Noonan-related syndrome Metachondromatosis Noonan syndrome 1 LEOPARD syndrome 1 Juvenile myelomonocytic leukemia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA235307	rs_397507501	17 SubmittersRCV000157675 RCV000157002 RCV000227194 RCV001330777 RCV001813241 RCV002482941 RCV002399352
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 RASopathy Condition: not provided Noonan syndrome and Noonan-related syndrome Noonan syndrome 1 PTPN11-related disorder	Reviewed By Expert Panel	CA180973	rs_397507504	10 SubmittersRCV000154561 RCV000557839 RCV000518841 RCV000788006 RCV000995619 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 Noonan syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis LEOPARD syndrome 1 Noonan syndrome 1 Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype LEOPARD syndrome 1 Metachondromatosis Male infertility with azoospermia or oligozoospermia due to single gene mutation PTPN11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA261558	rs_397507505	20 SubmittersRCV000033455 RCV000037627 RCV000234028 RCV000768061 RCV001283812 RCV001813242 RCV002408493 RCV003333002 RCV003333001 RCV003991571 RCV004532483
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 Noonan syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis LEOPARD syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA235313	rs_397507506	8 SubmittersRCV000037629 RCV000157677 RCV000587067 RCV000556984 RCV001358687 RCV001813243 RCV004795945
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 Juvenile myelomonocytic leukemia Metachondromatosis LEOPARD syndrome 1 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 Noonan syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis LEOPARD syndrome 1 See cases PTPN11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA235370	rs_397507507	10 SubmittersRCV000157700 RCV000151684 RCV001219186 RCV002490444 RCV003985264 RCV004532484
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	16 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 Noonan syndrome 1 PTPN11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA282070	rs_397507510	5 SubmittersRCV000033462 RCV000589874 RCV002408495 RCV004698420 RCV004724759
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn)	SNV Germline	Chr12:112450361	Pathogenic	RASopathy Condition: not provided Noonan syndrome 1 LEOPARD syndrome 1 Noonan syndrome Noonan syndrome 1 Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype Metachondromatosis LEOPARD syndrome 1 Noonan syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis LEOPARD syndrome 1 PTPN11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA235316	rs_397507510	20 SubmittersRCV000033463 RCV000157678 RCV000576434 RCV000599619 RCV001775072 RCV001813245 RCV002408496 RCV003147304 RCV003147305 RCV003224113 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 Noonan syndrome 1	Reviewed By Expert Panel	CA261565	rs_397507511	11 SubmittersRCV000033469 RCV000037633 RCV000212889 RCV002415446 RCV004795946
NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu)	SNV Germline	Chr12:112450391	Pathogenic/Likely pathogenic	Condition: not provided Noonan syndrome Noonan syndrome 3 RASopathy Noonan syndrome 1 PTPN11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA273215	rs_397507512	9 SubmittersRCV000033470 RCV000151689 RCV000586528 RCV000686123 RCV003150933 RCV004532486
NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro)	SNV Germline	Chr12:112450394	Pathogenic/Likely pathogenic	Condition: not provided Noonan syndrome RASopathy Noonan syndrome with multiple lentigines	Criteria Provided Multiple Submitters No Conflicts	CA261571	rs_121918453	5 SubmittersRCV000033472 RCV000037635 RCV001852674 RCV003103718
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 Metachondromatosis LEOPARD syndrome 1 Noonan syndrome and Noonan-related syndrome Noonan syndrome 1 PTPN11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA261580	rs_397507514	12 SubmittersRCV000033478 RCV000037639 RCV000254683 RCV000762884 RCV001813246 RCV003150934 RCV004734537
NM_002834.5(PTPN11):c.228G>C (p.Glu76Asp)	SNV Germline	Chr12:112450408	Pathogenic	Condition: not provided Noonan syndrome RASopathy Noonan syndrome 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA261577	rs_397507514	7 SubmittersRCV000033479 RCV000037638 RCV000472904 RCV000856760 RCV002453282
NM_002834.5(PTPN11):c.317A>C (p.Asp106Ala)	SNV Germline	Chr12:112450497	Pathogenic	RASopathy Noonan syndrome Condition: not provided Noonan syndrome 1 Noonan syndrome and Noonan-related syndrome	Criteria Provided Multiple Submitters No Conflicts	CA261584	rs_397507517	10 SubmittersRCV000033483 RCV000157021 RCV000212893 RCV001261998 RCV001813247
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 Noonan syndrome 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA261587	rs_397507518	8 SubmittersRCV000033484 RCV000037645 RCV000589214 RCV000815390 RCV001813248 RCV004771457 RCV004984651
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	8 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 Noonan syndrome 1 Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA261590	rs_397507520	8 SubmittersRCV000033490 RCV000212894 RCV000824742 RCV000995621 RCV001267275
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	SNV Germline	Chr12:112453279	Pathogenic	RASopathy Condition: not provided Noonan syndrome 1 Metachondromatosis Noonan syndrome 1 LEOPARD syndrome 1 Juvenile myelomonocytic leukemia Noonan syndrome 3 Noonan syndrome Cardiovascular phenotype Hypertrophic cardiomyopathy Juvenile myelomonocytic leukemia Noonan syndrome Ptosis Global developmental delay Brachycephaly Microcephaly Pectus excavatum Noonan syndrome and Noonan-related syndrome Metachondromatosis LEOPARD syndrome 1 PTPN11-related disorder	Reviewed By Expert Panel	CA177671	rs_397507520	40 SubmittersRCV000033491 RCV000077858 RCV000357736 RCV000515221 RCV000585988 RCV000521568 RCV000617179 RCV000626830 RCV000824741 RCV001003604 RCV001813249 RCV003147306 RCV003147307 RCV004528153
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg)	SNV Germline	Chr12:112472954	Pathogenic	RASopathy Condition: not provided Noonan syndrome 1 not specified Noonan syndrome Noonan syndrome with multiple lentigines Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA235325	rs_397507523	11 SubmittersRCV000033497 RCV000157681 RCV000585640 RCV000506790 RCV000824743 RCV002399353
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe)	SNV Germline	Chr12:112472968	Pathogenic	Noonan syndrome Condition: not provided RASopathy Noonan syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis 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 RASopathy PTPN11-related disorder Metachondromatosis LEOPARD syndrome 1 Metachondromatosis Noonan syndrome 1 LEOPARD syndrome 1 Juvenile myelomonocytic leukemia Cardiovascular phenotype	Reviewed By Expert Panel	CA234739	rs_376607329	36 SubmittersRCV000037658 RCV000153788 RCV000234910 RCV000477501 RCV000723292 RCV000988915 RCV001253554 RCV001536068 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 Metachondromatosis LEOPARD syndrome 1 Noonan syndrome with multiple lentigines PTPN11-related disorder Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA261597	rs_397507527	8 SubmittersRCV000033502 RCV000037660 RCV000703823 RCV001729355 RCV003147308 RCV003147309 RCV004700300 RCV004545735 RCV004658964
NM_002834.5(PTPN11):c.824A>C (p.Asn275Thr)	SNV Germline	Chr12:112473011	Conflicting classifications of pathogenicity	Noonan syndrome 1 Metachondromatosis LEOPARD syndrome 1 not specified RASopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_397507528	4 SubmittersRCV001111779 RCV001109482 RCV001109483 RCV001264525 RCV001294974 RCV003298038
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val)	SNV Germline	Chr12:112473031	Pathogenic	RASopathy Condition: not provided Noonan syndrome with multiple lentigines Noonan syndrome Noonan syndrome 1 Neurodevelopmental abnormality Metachondromatosis Noonan syndrome 1 LEOPARD syndrome 1 Juvenile myelomonocytic leukemia Noonan syndrome and Noonan-related syndrome Noonan syndrome Cardiovascular phenotype Noonan syndrome 1 LEOPARD syndrome 1 PTPN11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA220152	rs_397507529	29 SubmittersRCV000033505 RCV000077860 RCV000824745 RCV001283770 RCV001731328 RCV002054539 RCV001813250 RCV002273940 RCV002444453 RCV003153317 RCV003387505
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met)	SNV Germline	Chr12:112473033	Pathogenic/Likely pathogenic	Condition: not provided Noonan syndrome Noonan syndrome 1 RASopathy Cardiovascular phenotype PTPN11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA261600	rs_397507530	10 SubmittersRCV000033506 RCV000037661 RCV001027860 RCV001852676 RCV002444454 RCV004734538
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val)	SNV Germline	Chr12:112473040	Conflicting classifications of pathogenicity	Noonan syndrome 1 Metachondromatosis LEOPARD syndrome 1 Condition: not provided Noonan syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis LEOPARD syndrome 1 RASopathy PTPN11-related disorder Noonan syndrome 1	Criteria Provided Conflicting Classifications		rs_397507531	6 SubmittersRCV001027842 RCV002508779 RCV003224796 RCV003539766 RCV004532489 RCV004593977
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu)	SNV Germline	Chr12:112473040	Pathogenic	Noonan syndrome Condition: not provided RASopathy Noonan syndrome 3 Metachondromatosis Noonan syndrome 1 LEOPARD syndrome 1 Juvenile myelomonocytic leukemia Noonan syndrome 1 LEOPARD syndrome 1 Metachondromatosis Cardiovascular phenotype PTPN11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA220155	rs_397507531	18 SubmittersRCV000037662 RCV000077861 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 RASopathy Noonan syndrome and Noonan-related syndrome See cases Cardiovascular phenotype Noonan syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis LEOPARD syndrome 1 PTPN11-related disorder Noonan syndrome 1 LEOPARD syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA261607	rs_121918455	14 SubmittersRCV000033517 RCV000037668 RCV001193110 RCV001813251 RCV002287350 RCV002371807 RCV002482942 RCV004532491 RCV004668747 RCV004795947
NM_002834.5(PTPN11):c.990A>C (p.Thr330=)	SNV Germline	Chr12:112477913	Conflicting classifications of pathogenicity	RASopathy not specified Noonan syndrome and Noonan-related syndrome Condition: not provided Cardiovascular phenotype Juvenile myelomonocytic leukemia	Criteria Provided Conflicting Classifications	CA282105	rs_369739920	10 SubmittersRCV000033521 RCV000220386 RCV001813253 RCV001711218 RCV002381281 RCV003315538
NM_002834.5(PTPN11):c.1048T>G (p.Ser350Ala)	SNV Germline	Chr12:112477971	Conflicting classifications of pathogenicity	Condition: not provided Noonan syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis 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 not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA282120	rs_397507536	8 SubmittersRCV000033528 RCV001725940 RCV001852677 RCV001813255 RCV001818207 RCV004018713
NM_002834.5(PTPN11):c.1381G>T (p.Ala461Ser)	SNV Germline	Chr12:112488444	Pathogenic	RASopathy LEOPARD syndrome 1 Condition: not provided Noonan syndrome with multiple lentigines	Criteria Provided Multiple Submitters No Conflicts	CA261537	rs_121918468	5 SubmittersRCV001060541 RCV001729356 RCV000033529 RCV000037612
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 Noonan syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis 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 Noonan syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis LEOPARD syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA261543	rs_397507539	13 SubmittersRCV000033536 RCV000157010 RCV000254684 RCV000984919 RCV001813257 RCV004795948
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His)	SNV Germline	Chr12:112489048	Pathogenic/Likely pathogenic	Condition: not provided Noonan syndrome RASopathy Strabismus Abnormal facial shape Short stature Cardiovascular phenotype Noonan syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis LEOPARD syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA261546	rs_397507540	8 SubmittersRCV000033537 RCV000037617 RCV001378165 RCV001730478 RCV002390130 RCV002490446
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu)	SNV Germline	Chr12:112489048	Pathogenic	RASopathy Noonan syndrome Condition: not provided Noonan syndrome 1 LEOPARD syndrome 1 Noonan syndrome and Noonan-related syndrome Noonan syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis LEOPARD syndrome 1 PTPN11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA273407	rs_397507540	18 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 1 Noonan syndrome Noonan syndrome with multiple lentigines Noonan syndrome and Noonan-related syndrome Metachondromatosis Noonan syndrome 1 LEOPARD syndrome 1 Juvenile myelomonocytic leukemia Cardiovascular phenotype Metachondromatosis PTPN11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA273451	rs_397507541	20 SubmittersRCV000033539 RCV000055885 RCV000254686 RCV000722171 RCV000824747 RCV001813259 RCV002490447 RCV004018715 RCV004558285 RCV004532493
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu)	SNV Germline	Chr12:112489069	Pathogenic	RASopathy LEOPARD syndrome 1 Condition: not provided Noonan syndrome 1 Intellectual disability, mild Abnormal facial shape Cafe-au-lait spot Specific learning disability Scoliosis Noonan syndrome with multiple lentigines Noonan syndrome Noonan syndrome and Noonan-related syndrome	Criteria Provided Multiple Submitters No Conflicts	CA273434	rs_397507542	16 SubmittersRCV000033540 RCV000055886 RCV000212896 RCV000494687 RCV000626828 RCV000824748 RCV001813260
NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys)	SNV Germline	Chr12:112489078	Pathogenic/Likely pathogenic	Condition: not provided Noonan syndrome RASopathy 7 conditions Noonan syndrome 1 Cardiovascular phenotype Metachondromatosis Noonan syndrome 1 LEOPARD syndrome 1 Juvenile myelomonocytic leukemia	Criteria Provided Multiple Submitters No Conflicts	CA261549	rs_397507543	13 SubmittersRCV000033541 RCV000037618 RCV000466382 RCV001800333 RCV002260947 RCV004018716 RCV004795949
NM_002834.5(PTPN11):c.1504T>G (p.Ser502Ala)	SNV Germline	Chr12:112489080	Pathogenic	Noonan syndrome Juvenile myelomonocytic leukemia Condition: not provided RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA273454	rs_121918458	8 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	10 SubmittersRCV000033544 RCV000037619 RCV000781773 RCV002227049
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)	SNV Germline	Chr12:112489083	Pathogenic	RASopathy Condition: not provided Noonan syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis LEOPARD syndrome 1 Noonan syndrome Juvenile myelomonocytic leukemia Noonan syndrome 1 Neurodevelopmental disorder Cardiovascular phenotype PTPN11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA273459	rs_397507545	18 SubmittersRCV000033545 RCV000210040 RCV000515165 RCV000824750 RCV001028095 RCV001374913 RCV002390131 RCV004532494
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)	SNV Germline	Chr12:112489083	Pathogenic	RASopathy Condition: not provided Noonan syndrome Cardiovascular phenotype Noonan syndrome 1 Metachondromatosis Noonan syndrome 1 LEOPARD syndrome 1 Juvenile myelomonocytic leukemia Juvenile myelomonocytic leukemia Noonan syndrome Noonan syndrome and Noonan-related syndrome LEOPARD syndrome 1 Metachondromatosis PTPN11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA220137	rs_397507545	21 SubmittersRCV000033546 RCV000077852 RCV000157015 RCV000618529 RCV000660241 RCV000762886 RCV000824749 RCV001813261 RCV003147311 RCV003147310 RCV004532495
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu)	SNV Germline	Chr12:112489084	Pathogenic/Likely pathogenic	Condition: not provided RASopathy LEOPARD syndrome 1 Noonan syndrome 1 Metachondromatosis Noonan syndrome 1 LEOPARD syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis	Criteria Provided Multiple Submitters No Conflicts	CA282132	rs_397507546	9 SubmittersRCV000033548 RCV000532971 RCV000677651 RCV001330778 RCV002490448 RCV003450655
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)	SNV Germline	Chr12:112489086	Pathogenic	RASopathy Condition: not provided Noonan syndrome Noonan syndrome 1 Metachondromatosis Noonan syndrome 1 LEOPARD syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis Noonan syndrome 1 LEOPARD syndrome 1 Cardiovascular phenotype Male infertility with azoospermia or oligozoospermia due to single gene mutation PTPN11-related disorder	Reviewed By Expert Panel	CA220140	rs_397507547	33 SubmittersRCV000033549 RCV000077853 RCV000156983 RCV000677652 RCV000762887 RCV001027841 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 Congenital long QT syndrome Noonan syndrome 1 PTPN11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA235331	rs_397507548	16 SubmittersRCV000033550 RCV000055887 RCV000157683 RCV000154371 RCV001849289 RCV002390133 RCV004732584 RCV004554638 RCV004541060
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 with multiple lentigines Noonan syndrome 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 Metachondromatosis Noonan syndrome 1 LEOPARD syndrome 1 Juvenile myelomonocytic leukemia Noonan syndrome 1 PTPN11-related disorder	Reviewed By Expert Panel	CA220143	rs_397507550	12 SubmittersRCV000077854 RCV000521890 RCV002399355 RCV003147313 RCV003147314 RCV002490449 RCV003147312 RCV004532497
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 Primary familial dilated cardiomyopathy Condition: not provided LEOPARD syndrome 2 Noonan syndrome 5 Noonan syndrome Noonan syndrome and Noonan-related syndrome RAF1-related disorder	Criteria Provided Conflicting Classifications	CA134693	rs_145611571	13 SubmittersRCV000037673 RCV000253580 RCV000463359 RCV000624707 RCV000680304 RCV000987120 RCV001149006 RCV001261025 RCV001813264 RCV004541062
NM_002880.4(RAF1):c.524A>G (p.His175Arg)	SNV Germline	Chr3:12608823	Conflicting classifications of pathogenicity	Condition: not provided Noonan syndrome 5 RASopathy Cardiovascular phenotype Noonan syndrome	Criteria Provided Conflicting Classifications	CA261614	rs_397516822	7 SubmittersRCV000788414 RCV001254110 RCV001213204 RCV003362668 RCV000037693
NM_002880.4(RAF1):c.768G>T (p.Arg256Ser)	SNV Germline	Chr3:12604202	Likely 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	Chr3:12604201	Likely pathogenic	RASopathy Condition: not provided Noonan syndrome Primary familial hypertrophic cardiomyopathy	Reviewed By Expert Panel	CA184835	rs_727505017	5 SubmittersRCV000520189 RCV000159073 RCV000156441 RCV000208439
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	Chr3:12604194	Pathogenic	Noonan syndrome and Noonan-related syndrome Condition: not provided RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA339739	rs_397516827	4 SubmittersRCV001813266 RCV002504857 RCV000204940
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	Chr3:12604189	Pathogenic/Likely pathogenic	Primary familial hypertrophic cardiomyopathy Noonan syndrome Condition: not provided Noonan syndrome 5 LEOPARD syndrome 2 Dilated cardiomyopathy 1NN RASopathy RAF1-related disorder Noonan syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA261626	rs_121434594	8 SubmittersRCV000208199 RCV000211848 RCV000354359 RCV000763094 RCV001217833 RCV004541063 RCV004786288
NM_002880.4(RAF1):c.782C>G (p.Pro261Arg)	SNV Germline	Chr3:12604188	Pathogenic/Likely pathogenic	Noonan syndrome Condition: not provided Noonan syndrome 5 RASopathy Noonan syndrome and Noonan-related syndrome	Criteria Provided Multiple Submitters No Conflicts	CA134753	rs_397516828	8 SubmittersRCV000037706 RCV000159077 RCV000277865 RCV000590070 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	Chr3:12604182	Pathogenic/Likely pathogenic	Cardiovascular phenotype Condition: not provided RASopathy Noonan syndrome 5	Criteria Provided Multiple Submitters No Conflicts	CA16602249	rs_397516830	5 SubmittersRCV002408497 RCV000680627 RCV000686662 RCV003137555
NM_002880.4(RAF1):c.917C>T (p.Ser306Leu)	SNV Germline	Chr3:12600225	Conflicting classifications of pathogenicity	Condition: not provided RASopathy Noonan syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10602363	rs_886041231	4 SubmittersRCV000275940 RCV000820134 RCV001249756 RCV003162288
NM_002880.4(RAF1):c.1082G>C (p.Gly361Ala)	SNV Germline	Chr3:12599717	Pathogenic	Condition: not provided RASopathy LEOPARD syndrome 2 Noonan syndrome 5 Noonan syndrome	Reviewed By Expert Panel	CA134687	rs_397516813	8 SubmittersRCV000159081 RCV000473341 RCV000987116 RCV001542563 RCV000037671
NM_002880.4(RAF1):c.1279A>G (p.Ser427Gly)	SNV Germline	Chr3:12590889	Pathogenic/Likely pathogenic	Condition: not provided RASopathy Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA297127	rs_730881002	4 SubmittersRCV000159084 RCV001852678 RCV001813271 RCV004668748
NM_002880.4(RAF1):c.1423T>C (p.Phe475Leu)	SNV Germline	Chr3:12585794	Pathogenic/Likely pathogenic	Condition: not provided Noonan syndrome RASopathy Noonan syndrome 5 Dilated cardiomyopathy 1NN	Criteria Provided Multiple Submitters No Conflicts	CA297130	rs_730881003	6 SubmittersRCV000159085 RCV000602545 RCV001852679 RCV004593978 RCV003444149
NM_002880.4(RAF1):c.1457A>G (p.Asp486Gly)	SNV Germline	Chr3:12585760	Pathogenic/Likely pathogenic	Condition: not provided RASopathy RAF1-related disorder Noonan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA261610	rs_397516815	5 SubmittersRCV000434022 RCV000555975 RCV004554639 RCV000037675
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-like disorder with loose anagen hair 1 Noonan syndrome Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA297172	rs_730881019	8 SubmittersRCV000159109 RCV000766822 RCV000799563 RCV001004912 RCV001261147 RCV001813276 RCV002390134
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 Cardiovascular phenotype SOS1-related disorder Noonan syndrome 4	Criteria Provided Conflicting Classifications	CA297244	rs_201352584	9 SubmittersRCV000460292 RCV000514749 RCV000986626 RCV000852537 RCV002444455 RCV003407394 RCV004799178
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 Noonan syndrome 4	Reviewed By Expert Panel	CA261739	rs_397517164	7 SubmittersRCV000038546 RCV000159144 RCV000537356 RCV001813280 RCV004795339
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu)	SNV Germline	Chr2:39056704	Pathogenic	Noonan syndrome Condition: not provided RASopathy Neonatal hypotonia not specified Noonan syndrome 4 Cardiovascular phenotype SOS1-related disorder	Reviewed By Expert Panel	CA235342	rs_397517172	20 SubmittersRCV000038560 RCV000157689 RCV000476014 RCV001526618 RCV001002150 RCV001729357 RCV002345263 RCV003914900
NM_005633.4(SOS1):c.512T>G (p.Val171Gly)	SNV Germline	Chr2:39054822	Conflicting classifications of pathogenicity	RASopathy Inborn genetic diseases Noonan syndrome 4 not specified	Criteria Provided Conflicting Classifications	CA136165	rs_397517174	4 SubmittersRCV000466303 RCV000624181 RCV004018718 RCV000038563
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys)	SNV Germline	Chr2:39054763	Conflicting classifications of pathogenicity	Condition: not provided Noonan syndrome RASopathy Primary dilated cardiomyopathy not specified Fibromatosis, gingival, 1 Noonan syndrome 4	Criteria Provided Conflicting Classifications	CA10602366	rs_886041241	9 SubmittersRCV000293469 RCV000761106 RCV001069595 RCV001543363 RCV002247417 RCV002467503 RCV002467504
NM_005633.4(SOS1):c.806T>C (p.Met269Thr)	SNV Germline	Chr2:39051202	Pathogenic	Condition: not provided Noonan syndrome RASopathy Noonan syndrome 4 Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype Noonan syndrome 1	Reviewed By Expert Panel	CA235344	rs_137852813	18 SubmittersRCV000157690 RCV000208414 RCV000539275 RCV000487454 RCV001813283 RCV002415451 RCV003150936
NM_005633.4(SOS1):c.1269C>G (p.Asn423Lys)	SNV Germline	Chr2:39023159	Conflicting classifications of pathogenicity	Condition: not provided RASopathy Cardiovascular phenotype Noonan syndrome 4 not specified Fibromatosis, gingival, 1	Criteria Provided Conflicting Classifications	CA297301	rs_138459502	5 SubmittersRCV000159188 RCV000556655 RCV002444456 RCV002467508 RCV001192794 RCV002467507
NM_005633.4(SOS1):c.1297G>A (p.Glu433Lys)	SNV Germline	Chr2:39023131	Pathogenic	Noonan syndrome Condition: not provided RASopathy Noonan syndrome and Noonan-related syndrome Noonan syndrome 4 Noonan syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA235348	rs_397517147	7 SubmittersRCV000038513 RCV000157692 RCV000467110 RCV001813285 RCV002467509 RCV003450658
NM_005633.4(SOS1):c.1300G>C (p.Gly434Arg)	SNV Germline	Chr2:39023128	Pathogenic	not specified RASopathy Condition: not provided Noonan syndrome 4 Fibromatosis, gingival, 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_397517148	6 SubmittersRCV001002596 RCV001217212 RCV001508984 RCV002467510 RCV003460541 RCV004991981
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg)	SNV Germline	Chr2:39023128	Pathogenic/Likely pathogenic	Noonan syndrome Abnormal sternum morphology Pulmonic stenosis Ptosis Short stature RASopathy Condition: not provided Noonan syndrome 1 Noonan syndrome 4 Fetal cystic hygroma Noonan syndrome and Noonan-related syndrome Noonan syndrome 4 Fibromatosis, gingival, 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA261717	rs_397517148	13 SubmittersRCV000038514 RCV000626886 RCV000781878 RCV000788323 RCV000856735 RCV001270835 RCV001526663 RCV001813286 RCV002054543 RCV002381284
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 Fibromatosis, gingival, 1 Noonan syndrome 4 Noonan syndrome and Noonan-related syndrome Noonan syndrome 4 Noonan syndrome 1	Reviewed By Expert Panel	CA234977	rs_397517149	14 SubmittersRCV000038515 RCV000153986 RCV000654915 RCV000623399 RCV000763087 RCV001813287 RCV002054544 RCV003450659
NM_005633.4(SOS1):c.1644T>A (p.Ser548Arg)	SNV Germline	Chr2:39022784	Pathogenic/Likely pathogenic	Condition: not provided Noonan syndrome Noonan syndrome 4 RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA297272	rs_730881045	5 SubmittersRCV000159171 RCV001261087 RCV002467514 RCV001381689
NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro)	SNV Germline	Chr2:39022779	Pathogenic/Likely pathogenic	Noonan syndrome Condition: not provided RASopathy Noonan syndrome 4 Noonan syndrome 1 SOS1-related disorder Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA261724	rs_397517153	12 SubmittersRCV000038520 RCV000159172 RCV000550001 RCV002467515 RCV003150937 RCV003398589 RCV004668749
NM_005633.4(SOS1):c.1655G>T (p.Arg552Met)	SNV Germline	Chr2:39022773	Likely pathogenic	Condition: not provided Noonan syndrome and Noonan-related syndrome RASopathy Noonan syndrome	Reviewed By Expert Panel	CA16616762	rs_397517154	5 SubmittersRCV000484403 RCV000787996 RCV000685882 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 Noonan syndrome 1 SOS1-related disorder	Reviewed By Expert Panel	CA261728	rs_397517154	14 SubmittersRCV000159176 RCV000208093 RCV000528274 RCV000626887 RCV001507015 RCV001813288 RCV002399361 RCV003450660 RCV003390718
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys)	SNV Germline	Chr2:39022773	Pathogenic	Condition: not provided Noonan syndrome Noonan syndrome 3 Noonan syndrome 1 RASopathy Noonan syndrome 4 Fibromatosis, gingival, 1	Reviewed By Expert Panel	CA261726	rs_397517154	18 SubmittersRCV000159175 RCV000157017 RCV000587705 RCV000856745 RCV001062868 RCV001169984 RCV001335308
NM_005633.4(SOS1):c.1656G>T (p.Arg552Ser)	SNV Germline	Chr2:39022772	Pathogenic	Noonan syndrome Condition: not provided RASopathy Noonan syndrome and Noonan-related syndrome Noonan syndrome 4 Fibromatosis, gingival, 1 See cases Noonan syndrome 4 Cardiovascular phenotype	Reviewed By Expert Panel	CA261730	rs_267607079	12 SubmittersRCV000038525 RCV000213008 RCV000149832 RCV000787997 RCV000515298 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	Condition: not provided Noonan syndrome Noonan syndrome 4 RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA261731	rs_397517156	5 SubmittersRCV000159126 RCV000038531 RCV000495874 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 Cardiovascular phenotype SOS1-related disorder RASopathy Fibromatosis, gingival, 1 Noonan syndrome 4 Noonan syndrome and Noonan-related syndrome Noonan syndrome 4	Reviewed By Expert Panel	CA261734	rs_397517159	14 SubmittersRCV000038535 RCV000207492 RCV002453285 RCV003421942 RCV000471633 RCV000763085 RCV001813296 RCV004786289
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	RASopathy Noonan syndrome 4 not specified Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1624178	rs_375550588	6 SubmittersRCV000463473 RCV000577966 RCV000592644 RCV001588841 RCV002453287
NM_005633.4(SOS1):c.3524A>C (p.His1175Pro)	SNV Germline	Chr2:38986302	Conflicting classifications of pathogenicity	Condition: not provided RASopathy Noonan syndrome 4 Noonan syndrome 4 Fibromatosis, gingival, 1 Cardiovascular phenotype Fibromatosis, gingival, 1	Criteria Provided Conflicting Classifications	CA297237	rs_730881035	6 SubmittersRCV000589150 RCV001230717 RCV002467528 RCV002477050 RCV002453288 RCV002467527
NM_005633.4(SOS1):c.3729C>G (p.Asp1243Glu)	SNV Germline	Chr2:38986097	Conflicting classifications of pathogenicity	not specified RASopathy Condition: not provided Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype SOS1-related disorder	Criteria Provided Conflicting Classifications	CA297196	rs_730881026	6 SubmittersRCV000159118 RCV000231740 RCV001703448 RCV001813302 RCV002345265 RCV004742234
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	Chr15:66436825	Pathogenic/Likely pathogenic	Cardio-facio-cutaneous syndrome Condition: not provided RASopathy Noonan syndrome and Noonan-related syndrome Cardiofaciocutaneous syndrome 3	Criteria Provided Multiple Submitters No Conflicts	CA279996	rs_397516792	10 SubmittersRCV000037595 RCV000680623 RCV002513329 RCV001813306 RCV001542689
NM_030662.4(MAP2K2):c.274A>G (p.Arg92Gly)	SNV Germline	Chr19:4117448	Conflicting classifications of pathogenicity	not specified Neurofibromatosis-Noonan syndrome RASopathy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA9091063	rs_759061964	6 SubmittersRCV000413006 RCV000824945 RCV001063339 RCV003153319 RCV003162290
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn)	SNV Germline	Chr15:66435145	Pathogenic	RASopathy Cardiofaciocutaneous syndrome 3 Cardio-facio-cutaneous syndrome Condition: not provided Autism spectrum disorder Cardio-facio-cutaneous syndrome Noonan syndrome MAP2K1-related RASopathy Cardiovascular phenotype Melorheostosis Cardiofaciocutaneous syndrome 3 Cardiofaciocutaneous syndrome 1	Reviewed By Expert Panel	CA180743	rs_727504317	16 SubmittersRCV000158004 RCV000192193 RCV000208771 RCV000212506 RCV000754677 RCV000844673 RCV001095724 RCV002415455 RCV003224114 RCV004760352
NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys)	SNV Germline	Chr19:4101105	Likely pathogenic	Condition: not provided RASopathy Noonan syndrome Cardio-facio-cutaneous syndrome Cardio-facio-cutaneous syndrome	Reviewed By Expert Panel	CA180944	rs_727504382	9 SubmittersRCV000254662 RCV000158024 RCV000844675 RCV000524055
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 Cardio-facio-cutaneous syndrome Noonan 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 Café-au-lait macules with pulmonary stenosis Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Neurofibromatosis, familial spinal Juvenile myelomonocytic leukemia Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA215735	rs_200302954	14 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, familial spinal Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis	Criteria Provided Conflicting Classifications	CA161065	rs_112306990	23 SubmittersRCV000034585 RCV000121638 RCV000129680 RCV000199175 RCV000268253 RCV000264802 RCV000323382
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, type 1 Neurofibromatosis-Noonan syndrome Neurofibromatosis, familial spinal Café-au-lait macules with pulmonary stenosis Hereditary cancer-predisposing syndrome Cardiovascular phenotype Café-au-lait macules with pulmonary stenosis Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome NF1-related disorder	Criteria Provided Conflicting Classifications	CA164285	rs_148736217	12 SubmittersRCV000034587 RCV000129366 RCV000214790 RCV001082296 RCV001122582 RCV001122581 RCV001122580 RCV002362613 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 Café-au-lait macules with pulmonary stenosis Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Neurofibromatosis, familial spinal Juvenile myelomonocytic leukemia not specified Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Cardiovascular phenotype 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, familial spinal Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Neurofibromatosis, type 1 Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Hereditary cancer-predisposing syndrome Cardiovascular phenotype	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	Pathogenic	Condition: not provided Cardio-facio-cutaneous syndrome Noonan syndrome and Noonan-related syndrome RASopathy	Reviewed By Expert Panel	CA134601	rs_397516791	5 SubmittersRCV000158005 RCV000522848 RCV001813322 RCV004760354
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	10 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 Cardiovascular phenotype RASopathy Noonan syndrome and Noonan-related syndrome	Criteria Provided Conflicting Classifications	CA134673	rs_143433437	7 SubmittersRCV000037651 RCV001569121 RCV002345295 RCV001852783 RCV001813330
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 Cardiovascular phenotype Noonan syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis LEOPARD syndrome 1 Noonan syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA261594	rs_397507527	13 SubmittersRCV000037659 RCV000159050 RCV000587886 RCV001330780 RCV002415470 RCV002504894 RCV003338391
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 RASopathy Condition: not provided Noonan syndrome 5	Reviewed By Expert Panel	CA134750	rs_397516827	6 SubmittersRCV000037702 RCV000987117 RCV001261032 RCV001250389 RCV001843945 RCV004771458
NM_002880.4(RAF1):c.786T>A (p.Asn262Lys)	SNV Germline	Chr3:12604184	Pathogenic/Likely pathogenic	Noonan syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA261628	rs_397516829	4 SubmittersRCV000037707 RCV000388842
NM_004333.6(BRAF):c.1409C>G (p.Thr470Arg)	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 LEOPARD syndrome 3 Noonan syndrome 7 RASopathy	Criteria Provided Conflicting Classifications	CA135091	rs_184144181	5 SubmittersRCV000037926 RCV000263036 RCV000321913 RCV002054681
NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys)	SNV Germline	Chr7:140753392	Pathogenic/Likely pathogenic	Cardio-facio-cutaneous syndrome Condition: not provided Lung carcinoma Cardiofaciocutaneous syndrome 1 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	Chr7:140753333	Pathogenic	Cardio-facio-cutaneous syndrome Noonan syndrome Cardiofaciocutaneous syndrome 1 RASopathy	Criteria Provided Single Submitter	CA261660	rs_397507484	3 SubmittersRCV000037939 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 RASopathy Noonan syndrome Cardio-facio-cutaneous syndrome	Reviewed By Expert Panel	CA135140	rs_397516903	6 SubmittersRCV000037958 RCV000339233 RCV000788008 RCV002513490 RCV000824912
NM_004333.6(BRAF):c.785A>C (p.Gln262Pro)	SNV Germline	Chr7:140801487	Pathogenic/Likely pathogenic	Cardio-facio-cutaneous syndrome Condition: not provided Noonan syndrome RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA280033	rs_397516904	5 SubmittersRCV000208128 RCV000392102 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 Noonan syndrome and Noonan-related syndrome RASopathy Lung cancer Neoplasm	Criteria Provided Conflicting Classifications	CA261702	rs_121913240	5 SubmittersRCV000038257 RCV001813342 RCV001209740 RCV003996395 RCV004668756
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 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Condition: not provided RASopathy Juvenile myelomonocytic leukemia CBL-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA135696	rs_397517076	6 SubmittersRCV000038346 RCV000624342 RCV001270818 RCV001789707 RCV001852803 RCV002482996
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 Fibromatosis, gingival, 1 Noonan syndrome 4 Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype Noonan syndrome 4 Male subfertility	Criteria Provided Multiple Submitters No Conflicts	CA261719	rs_397517150	14 SubmittersRCV000038516 RCV000159164 RCV000474085 RCV003224124 RCV001813354 RCV002381310 RCV002467540 RCV003991573
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 Condition: not provided RASopathy Noonan syndrome 4 Fibromatosis, gingival, 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA136120	rs_202043599	7 SubmittersRCV000038541 RCV000586941 RCV000654932 RCV001138300 RCV001143052 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 Fibromatosis, gingival, 1 Noonan syndrome 4 RASopathy Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA136190	rs_143481916	5 SubmittersRCV000038577 RCV000394772 RCV000349172 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 Cardiovascular phenotype Noonan syndrome and Noonan-related syndrome	Criteria Provided Conflicting Classifications	CA142270	rs_147204964	7 SubmittersRCV000041238 RCV000586558 RCV001086208 RCV002399395 RCV001813367
NM_004333.6(BRAF):c.741T>G (p.Phe247Leu)	SNV Germline	Chr7:140801531	Pathogenic	Condition: not provided Noonan syndrome Noonan syndrome and Noonan-related syndrome RASopathy	Reviewed By Expert Panel	CA284654	rs_397509343	5 SubmittersRCV000049222 RCV000824914 RCV000788009 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	10 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 Noonan syndrome and Noonan-related syndrome RASopathy Cardiovascular phenotype RIT1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA144537	rs_672601334	21 SubmittersRCV000054404 RCV000159100 RCV000207349 RCV000856747 RCV001813373 RCV001731346 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 Cardiovascular phenotype Noonan syndrome 1 RIT1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA144538	rs_672601335	22 SubmittersRCV000054407 RCV000207348 RCV000298790 RCV001192384 RCV001813374 RCV002433549 RCV003450918 RCV003915017
NM_001042492.3(NF1):c.1885G>A (p.Gly629Arg)	SNV Germline	Chr17:31225134	Pathogenic	Condition: not provided Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 not specified Neurofibromatosis, type 1 Tibial pseudarthrosis Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Gastric cancer NF1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA165914	rs_199474738	20 SubmittersRCV000059160 RCV000130191 RCV000206280 RCV000506837 RCV001009575 RCV001535533 RCV003162463 RCV004549489
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)	SNV Germline	Chr17:31229155	Pathogenic/Likely pathogenic	Condition: not provided Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome not specified Atypical coarctation of aorta 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 Juvenile myelomonocytic leukemia Gastric cancer Café-au-lait macules with pulmonary stenosis	Criteria Provided Multiple Submitters No Conflicts	CA219477	rs_199474747	20 SubmittersRCV000059175 RCV000205919 RCV000492608 RCV000507716 RCV000845192 RCV002054910 RCV002453378 RCV003460651 RCV003162464 RCV004798769
NM_001042492.3(NF1):c.2543G>A (p.Gly848Glu)	SNV Germline	Chr17:31229158	Pathogenic	Condition: not provided Neurofibromatosis, type 1 Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Juvenile myelomonocytic leukemia Neurofibromatosis, familial spinal	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, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Juvenile myelomonocytic leukemia Neurofibromatosis, familial spinal	Criteria Provided Multiple Submitters No Conflicts	CA165101	rs_199474786	10 SubmittersRCV000059178 RCV000129792 RCV000823359 RCV002477208
NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser)	SNV Germline	Chr17:31232852	Conflicting classifications of pathogenicity	Condition: not provided not specified Neurofibromatosis, type 1 Juvenile myelomonocytic leukemia 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	CA219510	rs_199474764	8 SubmittersRCV000059184 RCV001001314 RCV000793336 RCV003460653 RCV004796000 RCV004992007
NM_001042492.3(NF1):c.3610C>T (p.Arg1204Trp)	SNV Germline	Chr17:31233115	Pathogenic/Likely pathogenic	Condition: not provided Neurofibromatosis, type 1 Cardiovascular phenotype Hereditary cancer-predisposing syndrome Neurofibromatosis-Noonan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA219534	rs_199474732	6 SubmittersRCV000059190 RCV000696613 RCV002318950 RCV003338403
NM_001042492.3(NF1):c.3827G>A (p.Arg1276Gln)	SNV Germline	Chr17:31235729	Pathogenic	Condition: not provided Neurofibromatosis, type 1 Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Juvenile myelomonocytic leukemia Neurofibromatosis, familial spinal Neurofibromatosis, type 1 Café-au-lait macules with pulmonary stenosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome Neurofibromatosis-Noonan syndrome	Criteria Provided Multiple Submitters No Conflicts	CA219546	rs_137854556	22 SubmittersRCV000059193 RCV000213660 RCV000762988 RCV000824729 RCV002318951 RCV002470752
NM_006767.4(LZTR1):c.264-13G>A	SNV Germline	Chr22:20985828	Pathogenic/Likely pathogenic	LZTR1-related schwannomatosis LZTR1-related schwannomatosis Noonan syndrome 2 Noonan syndrome 10 Schwannomatosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome Condition: not provided Noonan syndrome 2 Developmental disorder	Criteria Provided Multiple Submitters No Conflicts	CA150700	rs_587777176	14 SubmittersRCV000087292 RCV002498472 RCV004700409 RCV002426650 RCV001291541 RCV004786368 RCV003126498
NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu)	SNV Germline	Chr22:20987548	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome Schwannomatosis LZTR1-related disorder Noonan syndrome 10 LZTR1-related schwannomatosis	Criteria Provided Conflicting Classifications	CA150701	rs_587777177	9 SubmittersRCV001200448 RCV002453416 RCV003315228 RCV004529907 RCV004786369 RCV000087293
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln)	SNV Germline	Chr22:20993967	Likely pathogenic	LZTR1-related schwannomatosis Schwannomatosis Noonan syndrome and Noonan-related syndrome Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype Noonan syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA150704	rs_587777180	10 SubmittersRCV000087296 RCV001260384 RCV001813376 RCV001312780 RCV002390252 RCV004815183
NM_002880.4(RAF1):c.782C>T (p.Pro261Leu)	SNV Germline	Chr3:12604188	Pathogenic/Likely pathogenic	Noonan syndrome 5 Noonan syndrome Condition: not provided Dilated cardiomyopathy 1NN RASopathy Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA267618	rs_397516828	6 SubmittersRCV000106325 RCV000211850 RCV000519236 RCV001542564 RCV001221447 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 Condition: not provided Noonan syndrome Noonan syndrome and Noonan-related syndrome RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA150798	rs_483352822	9 SubmittersRCV000106331 RCV000301748 RCV000220792 RCV001813378 RCV001844039
NM_004333.6(BRAF):c.72G>C (p.Glu24Asp)	SNV Germline	Chr7:140924632	Conflicting classifications of pathogenicity	Condition: not provided LEOPARD syndrome 3 Noonan syndrome 7 RASopathy not specified	Criteria Provided Conflicting Classifications	CA157471	rs_587778114	5 SubmittersRCV000680282 RCV001160944 RCV001160945 RCV001222521 RCV000120256
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 Condition: not provided Neurofibromatosis-Noonan syndrome 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 RCV000587577 RCV001124836 RCV001124835 RCV001124837 RCV004558311
NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser)	SNV Germline	Chr17:31225143	Conflicting classifications of pathogenicity	not specified Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Condition: not provided Neurofibromatosis, familial spinal Café-au-lait macules with pulmonary stenosis Juvenile myelomonocytic leukemia Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA161025	rs_370789267	11 SubmittersRCV000121630 RCV000234708 RCV000220588 RCV000712402 RCV002483222 RCV004558312
NM_030662.4(MAP2K2):c.1005C>T (p.Asn335=)	SNV Germline	Chr19:4095429	Conflicting classifications of pathogenicity	not specified Noonan syndrome and Noonan-related syndrome RASopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA292000	rs_587781028	4 SubmittersRCV000126679 RCV001813387 RCV003654206 RCV002408633
NM_002524.5(NRAS):c.112-8A>G	SNV Germline	Chr1:114713986	Conflicting classifications of pathogenicity	Noonan syndrome and Noonan-related syndrome not specified Condition: not provided NRAS-related disorder RASopathy Noonan syndrome 6	Criteria Provided Conflicting Classifications	CA292582	rs_9724626	7 SubmittersRCV001813388 RCV000127228 RCV000588495 RCV003905211 RCV001089307 RCV001101050
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 Cardiovascular phenotype SOS1-related disorder RASopathy	Criteria Provided Conflicting Classifications	CA200951	rs_141507912	8 SubmittersRCV000174343 RCV000587965 RCV001813392 RCV002415621 RCV003965071 RCV001089232
NM_005633.4(SOS1):c.1989A>C (p.Ile663=)	SNV Germline	Chr2:39013941	Conflicting classifications of pathogenicity	not specified Noonan syndrome Gingival fibromatosis Cardiovascular phenotype RASopathy	Criteria Provided Conflicting Classifications	CA293647	rs_587781172	4 SubmittersRCV000128181 RCV000266750 RCV000324479 RCV003162570 RCV002514700
NM_005633.4(SOS1):c.3585A>G (p.Arg1195=)	SNV Germline	Chr2:38986241	Conflicting classifications of pathogenicity	not specified Noonan syndrome 4 Fibromatosis, gingival, 1 Cardiovascular phenotype RASopathy	Criteria Provided Conflicting Classifications	CA293651	rs_587781173	4 SubmittersRCV000128189 RCV001141204 RCV001141205 RCV002460045 RCV003539798
NM_001042492.3(NF1):c.231A>T (p.Lys77Asn)	SNV Germline	Chr17:31159036	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Neurofibromatosis, familial spinal Café-au-lait macules with pulmonary stenosis Neurofibromatosis, type 1 Cardiovascular phenotype Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA164511	rs_373563053	6 SubmittersRCV000129481 RCV000205241 RCV002478386 RCV002453460 RCV001808397
NM_001042492.3(NF1):c.4526G>A (p.Arg1509His)	SNV Germline	Chr17:31260464	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, type 1 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA165109	rs_546073780	10 SubmittersRCV000129797 RCV000205307 RCV002326843 RCV003483497 RCV000680997 RCV001818305
NM_001042492.3(NF1):c.575G>A (p.Arg192Gln)	SNV Germline	Chr17:31169986	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Neurofibromatosis, familial spinal Café-au-lait macules with pulmonary stenosis Neurofibromatosis, type 1 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 Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Neurofibromatosis, familial spinal Café-au-lait macules with pulmonary stenosis Neurofibromatosis, type 1	Criteria Provided Conflicting Classifications	CA165305	rs_199703296	5 SubmittersRCV000129895 RCV001588981 RCV002336284 RCV000546358 RCV002505106
NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly)	SNV Germline	Chr17:31258389	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Condition: not provided not specified Neurofibromatosis, type 1 Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Neurofibromatosis, familial spinal Café-au-lait macules with pulmonary stenosis Juvenile myelomonocytic leukemia Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA165427	rs_587781755	9 SubmittersRCV000129962 RCV000233760 RCV000480614 RCV001818308 RCV002483261 RCV003467127 RCV004558325
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 Cardiovascular phenotype Hereditary cancer-predisposing syndrome Neurofibromatosis-Noonan syndrome Neurofibromatosis, familial spinal Café-au-lait macules with pulmonary stenosis Condition: not provided	Criteria Provided Conflicting Classifications	CA165440	rs_201047812	15 SubmittersRCV000129967 RCV000200527 RCV000612512 RCV004558326 RCV001125917 RCV001125918 RCV001125919 RCV001594850
NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser)	SNV Germline	Chr17:31258377	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome NF1-related disorder Condition: not provided Neurofibromatosis-Noonan syndrome Neurofibromatosis, familial spinal not specified Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Neurofibromatosis, familial spinal Café-au-lait macules with pulmonary stenosis Neurofibromatosis, type 1 Neurofibromatosis, type 1 Café-au-lait macules with pulmonary stenosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA166199	rs_138227618	10 SubmittersRCV000130328 RCV004551254 RCV000680999 RCV001126022 RCV001126024 RCV001824642 RCV002498641 RCV000197840 RCV001126023 RCV002326844
NM_001042492.3(NF1):c.3604G>T (p.Ala1202Ser)	SNV Germline	Chr17:31233109	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Neurofibromatosis, familial spinal Café-au-lait macules with pulmonary stenosis Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 NF1-related disorder	Criteria Provided Conflicting Classifications	CA166289	rs_146641724	9 SubmittersRCV000130378 RCV000680625 RCV002453461 RCV000206873 RCV000764108 RCV003330502 RCV004737220
NM_001042492.3(NF1):c.7520C>T (p.Thr2507Ile)	SNV Germline	Chr17:31352319	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Neurofibromatosis, type 1 Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Neurofibromatosis, familial spinal Café-au-lait macules with pulmonary stenosis Neurofibromatosis, type 1 Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA166586	rs_149055633	7 SubmittersRCV000130522 RCV001818315 RCV000421743 RCV000475666 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 not specified Neurofibromatosis-Noonan syndrome NF1-related disorder Cardiovascular phenotype Hereditary cancer-predisposing syndrome Neurofibromatosis, familial spinal Café-au-lait macules with pulmonary stenosis	Criteria Provided Conflicting Classifications	CA166728	rs_146315101	9 SubmittersRCV000130596 RCV000430382 RCV001082766 RCV001797634 RCV001128480 RCV004551256 RCV004558333 RCV001128479 RCV001128481
NM_001042492.3(NF1):c.1166A>G (p.His389Arg)	SNV Germline	Chr17:31201140	Conflicting classifications of pathogenicity	Cardiovascular phenotype Hereditary cancer-predisposing syndrome Condition: not provided Hereditary cancer-predisposing syndrome Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Neurofibromatosis, familial spinal Café-au-lait macules with pulmonary stenosis Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Atypical coarctation of aorta	Criteria Provided Conflicting Classifications	CA167012	rs_149739570	9 SubmittersRCV002326845 RCV000680982 RCV000708723 RCV000765345 RCV001121969 RCV001121971 RCV000204985 RCV001121970 RCV000845190
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 Cardiovascular phenotype Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Neurofibromatosis, familial spinal Café-au-lait macules with pulmonary stenosis Neurofibromatosis, type 1	Criteria Provided Conflicting Classifications	CA168912	rs_587782592	4 SubmittersRCV000131934 RCV004558339 RCV000470005 RCV002483268
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys)	SNV Germline	Chr17:31327743	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Neurofibromatosis, type 1 Café-au-lait macules with pulmonary stenosis Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Neurofibromatosis, familial spinal Café-au-lait macules with pulmonary stenosis Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA169448	rs_368654378	11 SubmittersRCV000132225 RCV000484858 RCV000168027 RCV001128217 RCV000515448 RCV001128219 RCV001128218 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_033360.4(KRAS):c.347A>G (p.Asn116Ser)	SNV Germline	Chr12:25225717	Likely pathogenic	Noonan syndrome 1 Condition: not provided	Criteria Provided Single Submitter	CA270751	rs_202247812	2 SubmittersRCV000144422 RCV004700460
NM_005343.4(HRAS):c.182A>G (p.Gln61Arg)	SNV Germline/somatic	Chr11:533874	Likely pathogenic	Linear nevus sebaceous syndrome Condition: not provided Vascular Tumors Including Pyogenic Granuloma Noonan syndrome and Noonan-related syndrome Salivary gland neoplasm 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA173968	rs_121913233	6 SubmittersRCV000148033 RCV000157918 RCV000662268 RCV001813393 RCV001844808 RCV004796045
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	Chr1:114716127	Pathogenic	Juvenile myelomonocytic leukemia Noonan syndrome Condition: not provided RASopathy Noonan syndrome and Noonan-related syndrome Noonan syndrome 6	Criteria Provided Multiple Submitters No Conflicts	CA180753	rs_121913250	7 SubmittersRCV000158978 RCV000212761 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 RASopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA183755	rs_727504636	6 SubmittersRCV000155897 RCV000680364 RCV002291573 RCV001857535 RCV002345510
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	12 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 Noonan syndrome Cardio-facio-cutaneous syndrome Cardio-facio-cutaneous syndrome Condition: not provided Cardiofaciocutaneous syndrome 1	Reviewed By Expert Panel	CA280060	rs_180177036	7 SubmittersRCV000154481 RCV000824921 RCV000844617 RCV001192586 RCV003317101 RCV004596077
NM_004333.6(BRAF):c.2135C>A (p.Ala712Asp)	SNV Germline	Chr7:140734763	Pathogenic/Likely pathogenic	Cardio-facio-cutaneous syndrome Noonan syndrome Condition: not provided Noonan syndrome Noonan syndrome 7 RASopathy 6 conditions	Criteria Provided Multiple Submitters No Conflicts	CA273127	rs_727502904	7 SubmittersRCV000150197 RCV000788373 RCV000824929 RCV001374414 RCV001850036 RCV003224801
NM_004333.6(BRAF):c.1914T>G (p.Asp638Glu)	SNV Germline	Chr7:140749365	Pathogenic	Cardio-facio-cutaneous syndrome Inborn genetic diseases Condition: not provided RASopathy Cardiofaciocutaneous syndrome 1 Melanoma Noonan syndrome 1 Noonan syndrome 7	Criteria Provided Multiple Submitters No Conflicts	CA280051	rs_180177042	14 SubmittersRCV000150199 RCV000624589 RCV000157831 RCV000689333 RCV000767527 RCV004798786 RCV000999624 RCV004783752
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 Noonan syndrome and Noonan-related syndrome	Criteria Provided Multiple Submitters No Conflicts	CA180746	rs_121913357	2 SubmittersRCV000154398 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 Cardiovascular phenotype Noonan syndrome and Noonan-related syndrome CBL-related disorder	Criteria Provided Conflicting Classifications	CA181178	rs_143132980	5 SubmittersRCV000154692 RCV000555815 RCV002444637 RCV001813399 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 Noonan syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis LEOPARD 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	Chr12:112450394	Pathogenic/Likely pathogenic	RASopathy Condition: not provided Juvenile myelomonocytic leukemia Noonan syndrome Noonan syndrome 1 Noonan syndrome and Noonan-related syndrome	Criteria Provided Multiple Submitters No Conflicts	CA180706	rs_121918453	7 SubmittersRCV000154367 RCV000680626 RCV000824740 RCV000995620 RCV001813395
NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr)	SNV Germline	Chr12:112454636	Pathogenic/Likely pathogenic	Noonan syndrome Condition: not provided RASopathy PTPN11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA273218	rs_727503381	6 SubmittersRCV000151696 RCV000380092 RCV000654965 RCV004734709
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	5 SubmittersRCV000150889 RCV000157936 RCV000212500 RCV001850055
NM_152594.3(SPRED1):c.702C>G (p.Ile234Met)	SNV Germline	Chr15:38351031	Conflicting classifications of pathogenicity	not specified Noonan syndrome and Noonan-related syndrome Legius syndrome Cardiovascular phenotype SPRED1-related disorder	Criteria Provided Conflicting Classifications	CA178031	rs_138553244	8 SubmittersRCV000151932 RCV001813394 RCV000340177 RCV004992023 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 Noonan syndrome and Noonan-related syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA184327	rs_727504836	5 SubmittersRCV000156178 RCV000465734 RCV001813405 RCV001711316
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	10 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 Noonan syndrome and Noonan-related syndrome Congenital heart disease Noonan syndrome RASopathy Non-immune hydrops fetalis RIT1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA297161	rs_730881014	18 SubmittersRCV000054406 RCV000159101 RCV000207343 RCV001813414 RCV003483526 RCV001255602 RCV001375970 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 Cardiovascular phenotype Noonan syndrome 4 Fibromatosis, gingival, 1 RASopathy Condition: not provided Fibromatosis, gingival, 1 Noonan syndrome 4	Criteria Provided Conflicting Classifications		rs_374341202	6 SubmittersRCV000781875 RCV002354393 RCV002484991 RCV001242518 RCV004567180 RCV002467622 RCV002467623
NM_005633.4(SOS1):c.3412A>G (p.Ile1138Val)	SNV Germline	Chr2:38987571	Conflicting classifications of pathogenicity	Noonan syndrome 4 not specified Condition: not provided RASopathy Cardiovascular phenotype Fibromatosis, gingival, 1	Criteria Provided Conflicting Classifications	CA297234	rs_56248239	6 SubmittersRCV002467630 RCV000722119 RCV000587119 RCV000697593 RCV002453553 RCV002467629
NM_005633.4(SOS1):c.3329C>G (p.Ser1110Trp)	SNV Germline	Chr2:38995140	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Noonan syndrome 4 RASopathy Fibromatosis, gingival, 1	Criteria Provided Conflicting Classifications	CA297231	rs_572955351	4 SubmittersRCV000159139 RCV002321669 RCV002467628 RCV002516397 RCV002467627
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 Noonan syndrome RASopathy Noonan syndrome 4	Criteria Provided Multiple Submitters No Conflicts	CA297264	rs_397517150	4 SubmittersRCV000159165 RCV001261079 RCV001379728 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_002880.4(RAF1):c.1879C>T (p.Arg627Trp)	SNV Germline	Chr3:12584582	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype RASopathy Noonan syndrome and Noonan-related syndrome Noonan syndrome 5	Criteria Provided Conflicting Classifications	CA297136	rs_730881005	5 SubmittersRCV000159090 RCV000241753 RCV001365181 RCV001813413 RCV004764771
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 Cardiofaciocutaneous syndrome 1 Noonan 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 Condition: not provided Cardiovascular phenotype Noonan syndrome and Noonan-related syndrome	Criteria Provided Conflicting Classifications	CA297175	rs_147068827	6 SubmittersRCV000466484 RCV000763645 RCV002262761 RCV002336368 RCV001813417
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile)	SNV Germline	Chr10:110964877	Pathogenic	RASopathy Noonan syndrome-like disorder with loose anagen hair 1 not specified Condition: not provided Non-immune hydrops fetalis Cardiovascular phenotype See cases	Reviewed By Expert Panel	CA199174	rs_730881020	10 SubmittersRCV000523270 RCV000169685 RCV001030821 RCV000586119 RCV001376015 RCV002336369 RCV003156077
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.211T>G (p.Phe71Val)	SNV Germline	Chr12:112450391	Pathogenic	Condition: not provided Noonan syndrome 1	Criteria Provided Multiple Submitters No Conflicts	CA297073	rs_397507512	2 SubmittersRCV000159044 RCV004593995
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 LEOPARD syndrome 1 Juvenile myelomonocytic leukemia Metachondromatosis Noonan syndrome 1	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	Pathogenic/Likely pathogenic	Condition: not provided Noonan syndrome 1 Noonan syndrome Noonan syndrome and Noonan-related syndrome RASopathy Astrocytic tumor	Criteria Provided Multiple Submitters No Conflicts	CA297097	rs_397507539	6 SubmittersRCV000159056 RCV001002766 RCV001261020 RCV001813411 RCV002515083 RCV003764999
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	8 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 Cardiovascular phenotype RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA353883	rs_869025194	15 SubmittersRCV000170492 RCV000207352 RCV000263369 RCV001813420 RCV002453562 RCV001778757
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 Noonan syndrome 8 RASopathy RIT1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA353877	rs_869025194	14 SubmittersRCV000207346 RCV000254958 RCV001813419 RCV001850287 RCV003317110 RCV003927532
NM_006912.6(RIT1):c.244T>A (p.Phe82Ile)	SNV Germline	Chr1:155904496	Pathogenic	Noonan syndrome 8 Noonan syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA353868	rs_869025194	5 SubmittersRCV000226825 RCV000207338 RCV001731491
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly)	SNV Germline	Chr1:155904498	Pathogenic/Likely pathogenic	Noonan syndrome 8 Noonan syndrome Condition: not provided not specified Inborn genetic diseases Noonan syndrome and Noonan-related syndrome RASopathy RIT1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA353880	rs_869025193	16 SubmittersRCV000054405 RCV000207350 RCV000255048 RCV000508083 RCV001265779 RCV001813418 RCV001174556 RCV004745234
NM_006912.6(RIT1):c.241G>C (p.Glu81Gln)	SNV Somatic	Chr1:155904499	Pathogenic	Noonan syndrome Neoplasm	No Assertion Criteria Provided	CA353878	rs_869025192	2 SubmittersRCV000207347 RCV004668820
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 RIT1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA353870	rs_869025191	13 SubmittersRCV000207340 RCV000282691 RCV000578238 RCV000856755 RCV003114309 RCV004745233
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	9 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 Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome 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 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	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 Neurofibromatosis, type 1 not specified NF1-related disorder Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA192349	rs_768777585	8 SubmittersRCV000165034 RCV001080592 RCV001251350 RCV004552899 RCV001127656 RCV001127657 RCV001127658 RCV000681114
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 not specified Condition: not provided Juvenile myelomonocytic leukemia Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 NF1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA198406	rs_786203950	24 SubmittersRCV000167474 RCV000468520 RCV000508304 RCV000579282 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 Neurofibromatosis, type 1 10 conditions Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA188459	rs_140653372	8 SubmittersRCV000163499 RCV000206471 RCV000415075 RCV001124832 RCV001124833 RCV001124834 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	8 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 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 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 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 Condition: not provided Neurofibromatosis, familial spinal Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis	Criteria Provided Conflicting Classifications	CA191732	rs_369493270	6 SubmittersRCV000164772 RCV000475700 RCV003224179 RCV004558365 RCV000681003 RCV001027838
NM_001042492.3(NF1):c.3213A>G (p.Ala1071=)	SNV Germline	Chr17:31232088	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome	Criteria Provided Conflicting Classifications	CA191602	rs_786202077	4 SubmittersRCV000164712 RCV000907557 RCV001124941 RCV001124942 RCV001124943
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	Hereditary cancer-predisposing syndrome not specified Juvenile myelomonocytic leukemia Neurofibromatosis, familial spinal Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Cardiovascular phenotype Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Café-au-lait macules with pulmonary stenosis Condition: not provided Neurofibromatosis-Noonan syndrome NF1-related disorder	Criteria Provided Conflicting Classifications	CA192901	rs_143836226	13 SubmittersRCV000165261 RCV000428670 RCV000515307 RCV001122261 RCV002362857 RCV000205468 RCV001122259 RCV000680330 RCV001122260 RCV004737259
NM_001042492.3(NF1):c.4749A>G (p.Glu1583=)	SNV Germline	Chr17:31265253	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Neurofibromatosis, familial spinal Café-au-lait macules with pulmonary stenosis not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA189401	rs_144091165	9 SubmittersRCV000163873 RCV000206001 RCV000266821 RCV000269925 RCV000360964 RCV000604815 RCV000679394
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 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal	Criteria Provided Conflicting Classifications	CA189791	rs_140994965	11 SubmittersRCV000164013 RCV000679396 RCV000781665 RCV001083508 RCV001126129 RCV001126127 RCV001126128
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln)	SNV Germline	Chr17:31327839	Pathogenic	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Condition: not provided Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 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 Condition: not provided Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis	Criteria Provided Conflicting Classifications	CA188125	rs_141077224	11 SubmittersRCV000163376 RCV000611445 RCV000679401 RCV001083474 RCV001122482 RCV001122483 RCV001122484
NM_001042492.3(NF1):c.5782G>T (p.Glu1928Ter)	SNV Germline	Chr17:31330468	Pathogenic	Hereditary cancer-predisposing syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 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 Café-au-lait macules with pulmonary stenosis Neurofibromatosis-Noonan syndrome Condition: not provided Neurofibromatosis, familial spinal Neurofibromatosis, type 1	Criteria Provided Conflicting Classifications	CA195752	rs_786203189	4 SubmittersRCV000166393 RCV000330706 RCV000372613 RCV001567747 RCV000275738 RCV000315684
NM_001042492.3(NF1):c.6665C>T (p.Thr2222Met)	SNV Germline	Chr17:31337841	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 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 Condition: not provided	Criteria Provided Conflicting Classifications	CA195062	rs_369803831	6 SubmittersRCV000166122 RCV000472540 RCV002505211 RCV002372050 RCV001582655
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter)	SNV Germline	Chr17:31338739	Pathogenic	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Condition: not provided Juvenile myelomonocytic leukemia Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Ewing sarcoma Neurofibromatosis, type 1 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 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	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 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Neurofibromatosis, type 1 not specified Condition: not provided NF1-related disorder	Criteria Provided Conflicting Classifications	CA189029	rs_371581213	10 SubmittersRCV000163716 RCV000340759 RCV000353715 RCV000301011 RCV000394144 RCV000616739 RCV002274959 RCV004551407
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val)	SNV Germline	Chr17:31349143	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Neurofibromatosis, type 1 Cardiovascular phenotype Hereditary cancer-predisposing syndrome Juvenile myelomonocytic leukemia Neurofibromatosis, familial spinal Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis not specified	Criteria Provided Conflicting Classifications	CA194028	rs_565708398	9 SubmittersRCV000165705 RCV001548376 RCV000196434 RCV003162703 RCV000515215 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 Café-au-lait macules with pulmonary stenosis Neurofibromatosis-Noonan syndrome Neurofibromatosis, familial spinal Condition: not provided	Criteria Provided Conflicting Classifications	CA188027	rs_786201310	4 SubmittersRCV000163341 RCV000273660 RCV000314078 RCV000371061 RCV000401489 RCV004808599
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 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	Criteria Provided Conflicting Classifications	CA191368	rs_757245615	7 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 Juvenile myelomonocytic leukemia Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Condition: not provided Neurofibromatosis, type 1 Tibial pseudarthrosis Neurofibromatosis-Noonan syndrome Juvenile myelomonocytic leukemia NF1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA188413	rs_786201367	25 SubmittersRCV000163482 RCV000196216 RCV000515434 RCV000599610 RCV001009586 RCV001808436 RCV003462120 RCV004551398
NM_001042492.3(NF1):c.8446G>A (p.Gly2816Arg)	SNV Germline	Chr17:31374081	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Cardiovascular phenotype not specified	Criteria Provided Conflicting Classifications	CA195946	rs_778233452	5 SubmittersRCV000166465 RCV000632473 RCV002492669 RCV002433719 RCV003488413
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)	SNV Germline	Chr17:31226474	Pathogenic	Neurofibromatosis, type 1 Cafe-au-lait spot Optic nerve glioma Axillary freckling Condition: not provided not specified Rhabdomyosarcoma Neurofibromatosis-Noonan syndrome Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA334507	rs_768638173	20 SubmittersRCV000168265 RCV000415426 RCV000414746 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 Noonan syndrome and Noonan-related syndrome RIT1-related disorder Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA1151814	rs_483352822	10 SubmittersRCV000170493 RCV000355969 RCV001813422 RCV003416059 RCV004020021
NM_005633.4(SOS1):c.2105A>G (p.Tyr702Cys)	SNV Germline	Chr2:39013522	Conflicting classifications of pathogenicity	Condition: not provided RASopathy Fibromatosis, gingival, 1 Noonan syndrome 4	Criteria Provided Conflicting Classifications	CA236034	rs_757094189	4 SubmittersRCV000171288 RCV002515236 RCV002505234
NM_005633.4(SOS1):c.3769A>G (p.Thr1257Ala)	SNV Germline	Chr2:38986057	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Noonan syndrome 4 RASopathy Noonan syndrome 4 Fibromatosis, gingival, 1 Fibromatosis, gingival, 1	Criteria Provided Conflicting Classifications	CA242343	rs_553805862	10 SubmittersRCV000176407 RCV002362896 RCV002467646 RCV001344972 RCV002500487 RCV002467645
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	Pathogenic	Neurofibromatosis, type 1 Condition: not provided not specified Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Intellectual disability Neurofibromatosis-Noonan syndrome Neurodevelopmental delay Cardiovascular phenotype Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Juvenile myelomonocytic leukemia Juvenile myelomonocytic leukemia NF1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA276040	rs_797045139	27 SubmittersRCV000190889 RCV000439869 RCV000999745 RCV001027793 RCV001257603 RCV001775095 RCV002273979 RCV002319460 RCV002503749 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-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Juvenile myelomonocytic leukemia Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Multiple Submitters No Conflicts	CA276045	rs_771529172	9 SubmittersRCV000190890 RCV000762992 RCV001589057 RCV002311032
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)	SNV Germline	Chr22:20990476	Likely pathogenic	Noonan syndrome 10 Condition: not provided Noonan syndrome 10 LZTR1-related schwannomatosis Fetal cystic hygroma Cardiovascular phenotype Hereditary cancer-predisposing syndrome LZTR1-related schwannomatosis RASopathy Noonan syndrome 1 LZTR1-related disorder	Reviewed By Expert Panel	CA358852	rs_869320686	25 SubmittersRCV000191027 RCV000413889 RCV000763072 RCV001526613 RCV002381647 RCV003988835 RCV004576927 RCV004698786 RCV004734846
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys)	SNV Germline	Chr22:20991686	Pathogenic/Likely pathogenic	Noonan syndrome 10 Condition: not provided LZTR1-related schwannomatosis Noonan syndrome 10 LZTR1-related disorder LZTR1-related schwannomatosis Noonan syndrome 10 Noonan syndrome 2 Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA204980	rs_797045165	11 SubmittersRCV000191028 RCV000658480 RCV000763073 RCV004530087 RCV004796089 RCV002444774
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	9 SubmittersRCV000191030 RCV000224178 RCV000845122 RCV003454490
NM_006939.4(SOS2):c.800T>A (p.Met267Lys)	SNV Germline	Chr14:50182521	Likely pathogenic	Noonan syndrome 9 Condition: not provided RASopathy	Reviewed By Expert Panel	CA204984	rs_797045167	8 SubmittersRCV000191031 RCV003320592 RCV004732469
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	11 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, familial spinal Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis 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 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 not specified NF1-related disorder	Criteria Provided Conflicting Classifications	CA339497	rs_748027595	8 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 Noonan syndrome-like disorder with loose anagen hair Condition: not provided	Criteria Provided Conflicting Classifications	CA249249	rs_864309599	7 SubmittersRCV000203043 RCV002272173 RCV002273987 RCV002515502 RCV003407717 RCV004701267 RCV004800333
NM_002524.5(NRAS):c.35G>C (p.Gly12Ala)	SNV Germline/somatic	Chr1:114716126	Pathogenic/Likely pathogenic	Myelodysplastic syndrome progressed to acute myeloid leukemia Noonan syndrome and Noonan-related syndrome Condition: not provided RASopathy	Criteria Provided Multiple Submitters No Conflicts	CA280928	rs_121913237	4 SubmittersRCV000203450 RCV001813426 RCV000380895 RCV001324275
NM_002880.4(RAF1):c.462C>G (p.Ile154Met)	SNV Germline	Chr3:12608885	Conflicting classifications of pathogenicity	RASopathy Noonan syndrome 5 LEOPARD syndrome 2 Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA349068	rs_367732360	4 SubmittersRCV000204876 RCV001144316 RCV001144315 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 Cardiovascular phenotype Hereditary cancer-predisposing syndrome Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Juvenile myelomonocytic leukemia Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype NF1-related disorder	Criteria Provided Conflicting Classifications	CA350599	rs_745407845	7 SubmittersRCV000206576 RCV001545516 RCV002317731 RCV002494519 RCV003313057 RCV004725061
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 Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Juvenile myelomonocytic leukemia Condition: not provided NF1-related disorder	Criteria Provided Conflicting Classifications	CA350500	rs_763082717	8 SubmittersRCV000206473 RCV000571459 RCV002317733 RCV002503803 RCV003237766 RCV004737327
NM_001042492.3(NF1):c.7354C>T (p.Arg2452Cys)	SNV Germline	Chr17:31350215	Conflicting classifications of pathogenicity	Neurofibromatosis, type 1 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 Hereditary cancer-predisposing syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA348018	rs_377662483	8 SubmittersRCV000203720 RCV000571589 RCV000681043 RCV000764115 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 Melanoma	Criteria Provided Multiple Submitters No Conflicts	CA354839	rs_869025340	5 SubmittersRCV000207510 RCV001781616 RCV004798811
NM_002524.5(NRAS):c.71T>A (p.Ile24Asn)	SNV Germline	Chr1:114716090	Likely pathogenic	Noonan syndrome 1 Condition: not provided RASopathy	Reviewed By Expert Panel	CA356968	rs_869025573	3 SubmittersRCV000208553 RCV000522652 RCV004732470
NM_002834.5(PTPN11):c.1174G>A (p.Ala392Thr)	SNV Germline	Chr12:112482155	Conflicting classifications of pathogenicity	Noonan syndrome 1 Condition: not provided RASopathy Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA357176	rs_774356443	4 SubmittersRCV000209886 RCV002261008 RCV001853345 RCV004984747
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln)	SNV Germline	Chr1:155910695	Pathogenic/Likely pathogenic	Noonan syndrome 8 not specified Condition: not provided Pedal edema Downslanted palpebral fissures Short stature Hypertelorism Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA353413	rs_869312687	6 SubmittersRCV000209835 RCV000521893 RCV000680368 RCV000626786 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	5 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	8 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 Noonan syndrome 1 Cardiofaciocutaneous syndrome 3 Cardiofaciocutaneous syndrome 3	Reviewed By Expert Panel	CA10576999	rs_876657651	5 SubmittersRCV000220187 RCV000844674 RCV000763361 RCV001312196
NM_001042492.3(NF1):c.4724+11A>G	SNV Germline	Chr17:31261868	Conflicting classifications of pathogenicity	not specified Neurofibromatosis, type 1 Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Condition: not provided Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA8486455	rs_368649260	5 SubmittersRCV000218790 RCV000310146 RCV000364871 RCV000368229 RCV000398510 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 Cardiovascular phenotype Hereditary cancer-predisposing syndrome	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, familial spinal Juvenile myelomonocytic leukemia Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Abnormality of the skin Neurofibrmatosis type 1 Juvenile myelomonocytic leukemia	Criteria Provided Multiple Submitters No Conflicts	CA8485754	rs_778405030	20 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 Condition: not provided Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10580240	rs_779546178	5 SubmittersRCV000213385 RCV000559747 RCV000681229 RCV001125814 RCV001125813 RCV001125815 RCV002415908
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, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Juvenile myelomonocytic leukemia	Criteria Provided Conflicting Classifications	CA8485918	rs_759679443	5 SubmittersRCV000220091 RCV000465439 RCV001775692 RCV002415909 RCV002500735
NM_001042492.3(NF1):c.2887C>T (p.Gln963Ter)	SNV Germline/somatic	Chr17:31229871	Pathogenic	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Gastric cancer Condition: not provided Malignant tumor of urinary bladder Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Juvenile myelomonocytic leukemia	Criteria Provided Multiple Submitters No Conflicts	CA10580267	rs_876660444	10 SubmittersRCV000219051 RCV000660024 RCV003165575 RCV001782711 RCV003332148 RCV004796116
NM_001042492.3(NF1):c.3303G>A (p.Gln1101=)	SNV Germline	Chr17:31232178	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 not specified	Criteria Provided Conflicting Classifications	CA10580279	rs_876659944	6 SubmittersRCV000215735 RCV001125916 RCV000632608 RCV001125914 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 Neurofibromatosis, type 1 Neurofibromatosis, familial spinal Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Condition: not provided Juvenile myelomonocytic leukemia Cardiovascular phenotype Hereditary cancer-predisposing syndrome NF1-related disorder	Criteria Provided Conflicting Classifications	CA10580306	rs_876660908	7 SubmittersRCV000220527 RCV000531590 RCV002494600 RCV001589161 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, type 1 Neurofibromatosis, familial spinal Juvenile myelomonocytic leukemia Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis not specified Hereditary breast ovarian cancer syndrome Condition: not provided Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10580315	rs_876660093	8 SubmittersRCV000222235 RCV000632497 RCV000764112 RCV001731450 RCV001030575 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 Cardiovascular phenotype Hereditary cancer-predisposing syndrome	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 Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype Neurofibromatosis, type 1 Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Juvenile myelomonocytic leukemia	Criteria Provided Conflicting Classifications	CA10580318	rs_876660162	5 SubmittersRCV000218722 RCV000681188 RCV004558552 RCV000476720 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 not specified Cardiovascular phenotype Hereditary cancer-predisposing syndrome NF1-related disorder Neurofibromatosis-Noonan syndrome	Criteria Provided Conflicting Classifications	CA8487120	rs_376655102	7 SubmittersRCV000221420 RCV000546921 RCV000681085 RCV003114391 RCV002327095 RCV004547559 RCV003387812
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp)	SNV Germline	Chr17:31326144	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 not specified Hereditary breast ovarian cancer syndrome Neurofibromatosis-Noonan syndrome Neurofibromatosis, familial spinal Condition: not provided Café-au-lait macules with pulmonary stenosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA8487141	rs_773378630	7 SubmittersRCV000219317 RCV000460990 RCV000780547 RCV001030578 RCV001126130 RCV001126132 RCV000680828 RCV001126131 RCV002338690
NM_001042492.3(NF1):c.5991G>A (p.Trp1997Ter)	SNV Germline	Chr17:31335016	Pathogenic/Likely pathogenic	Hereditary cancer-predisposing syndrome Condition: not provided Neurofibromatosis, type 1 Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Juvenile myelomonocytic leukemia	Criteria Provided Multiple Submitters No Conflicts	CA10580365	rs_876660696	7 SubmittersRCV000215669 RCV001797071 RCV000660089 RCV000763391
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter)	SNV Germline	Chr17:31338092	Pathogenic	Hereditary cancer-predisposing syndrome Neurofibromatosis, type 1 Condition: not provided Neurofibromatosis, type 1 Tibial pseudarthrosis Café-au-lait macules with pulmonary stenosis NF1-related disorder 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 Multiple Submitters No Conflicts	CA10580388	rs_876658541	24 SubmittersRCV000223234 RCV000461033 RCV000578739 RCV001009581 RCV004798816 RCV004737347 RCV004796112 RCV004992097
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 Neurofibromatosis, familial spinal Juvenile myelomonocytic leukemia Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Juvenile myelomonocytic leukemia NF1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA10580413	rs_866445127	26 SubmittersRCV000218957 RCV000457951 RCV000505900 RCV000579098 RCV001836756 RCV002494586 RCV003469003 RCV003595895
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 Juvenile myelomonocytic leukemia Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Cardiovascular phenotype Hereditary cancer-predisposing syndrome NF1-related disorder	Criteria Provided Conflicting Classifications	CA8487780	rs_779789452	6 SubmittersRCV000215281 RCV000230134 RCV002494592 RCV003165564 RCV004737350
NM_007373.4(SHOC2):c.610A>G (p.Ile204Val)	SNV Germline	Chr10:110964968	Conflicting classifications of pathogenicity	RASopathy Condition: not provided Noonan syndrome-like disorder with loose anagen hair 1 not specified	Criteria Provided Conflicting Classifications	CA5689600	rs_200015085	5 SubmittersRCV000229898 RCV000479328 RCV000314432 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 Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA7470218	rs_768937237	4 SubmittersRCV001505311 RCV001813434 RCV003401189 RCV003165655
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-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Juvenile myelomonocytic leukemia Neurofibromatosis, type 1 Condition: not provided Hereditary cancer Hereditary cancer-predisposing syndrome Cardiovascular phenotype NF1-related disorder	Criteria Provided Conflicting Classifications	CA8485485	rs_779727341	11 SubmittersRCV000234251 RCV000564586 RCV000765342 RCV000996514 RCV003491998 RCV002311333 RCV004547596
NM_001042492.3(NF1):c.889-2A>G	SNV Germline	Chr17:31200420	Pathogenic	Neurofibromatosis, type 1 NF1-related disorder Neurofibromatosis, type 1 Neurofibromatosis-Noonan syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Juvenile myelomonocytic leukemia not specified Condition: not provided Hereditary cancer-predisposing syndrome Cardiovascular phenotype Juvenile myelomonocytic leukemia	Criteria Provided Multiple Submitters No Conflicts	CA10583465	rs_878853922	9 SubmittersRCV000227780 RCV004737358 RCV004796123 RCV001000939 RCV000992436 RCV002315683 RCV003469146
NM_001042492.3(NF1):c.1866T>C (p.Cys622=)	SNV Germline	Chr17:31225115	Conflicting classifications of pathogenicity	Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Café-au-lait macules with pulmonary stenosis Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8485875	rs_753245823	4 SubmittersRCV000231851 RCV000561704 RCV001122064 RCV001122063 RCV001122062 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 RASopathy	Reviewed By Expert Panel	CA10586682	rs_886037952	26 SubmittersRCV000257986 RCV000490622 RCV001265940 RCV001251211 RCV001257999 RCV002274002 RCV004732471
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	Likely pathogenic	Noonan syndrome-like disorder with loose anagen hair 2 Condition: not provided PPP1CB-related disorder	Criteria Provided Single Submitter	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 Noonan syndrome 5 LEOPARD syndrome 2 Noonan syndrome RASopathy Dilated cardiomyopathy 1NN Noonan syndrome 5 LEOPARD syndrome 2	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	Chr1:114713908	Pathogenic	Condition: not provided Noonan syndrome 6	Criteria Provided Single Submitter	CA10602732	rs_11554290	2 SubmittersRCV000291285 RCV003155143
NM_006912.6(RIT1):c.634C>T (p.Arg212Trp)	SNV Germline	Chr1:155900414	Conflicting classifications of pathogenicity	Condition: not provided not specified Noonan syndrome 8 Noonan syndrome and Noonan-related syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1151760	rs_563231684	6 SubmittersRCV000373670 RCV001174993 RCV001342293 RCV001813440 RCV002365291
NM_006912.6(RIT1):c.365G>T (p.Arg122Leu)	SNV Germline	Chr1:155904375	Pathogenic/Likely pathogenic	Condition: not provided Noonan syndrome and Noonan-related syndrome Noonan syndrome 8 Megalencephaly-capillary malformation-polymicrogyria syndrome Noonan syndrome 8	Criteria Provided Multiple Submitters No Conflicts	CA10602738	rs_777520196	4 SubmittersRCV000357501 RCV001813444 RCV001037285 RCV002051722
NM_006912.6(RIT1):c.259G>C (p.Asp87His)	SNV Germline	Chr1:155904481	Pathogenic/Likely pathogenic	Condition: not provided Noonan syndrome 8 Noonan syndrome and Noonan-related syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10602741	rs_886041414	3 SubmittersRCV000278934 RCV001855060 RCV001813441
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	6 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 Noonan syndrome 4 Cardiovascular phenotype Fibromatosis, gingival, 1 RASopathy	Criteria Provided Conflicting Classifications	CA1624439	rs_759584440	4 SubmittersRCV000328656 RCV002467702 RCV002429208 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 CBL-related disorder	Criteria Provided Conflicting Classifications	CA6318645	rs_143264567	6 SubmittersRCV000361702 RCV001089369 RCV001192739 RCV001813442 RCV004021064 RCV004799203
NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter)	SNV Germline	Chr17:31229061	Pathogenic	Condition: not provided Neurofibromatosis, type 1 6 conditions Neurofibromatosis, familial spinal Neurofibromatosis-Noonan syndrome Juvenile myelomonocytic leukemia Café-au-lait macules with pulmonary stenosis Neurofibromatosis, type 1 Hereditary cancer-predisposing syndrome Cardiovascular phenotype Juvenile myelomonocytic leukemia	Criteria Provided Multiple Submitters No Conflicts	CA10603442	rs_886041347	20 SubmittersRCV000376782 RCV000497042 RCV000626642 RCV000762986 RCV002311233 RCV003469215
NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu)	SNV Germline	Chr15:66436777	Pathogenic	Cardiofaciocutaneous syndrome 3 Noonan syndrome 1 Condition: not provided Cardiofaciocutaneous syndrome 3 RASopathy	Reviewed By Expert Panel	CA10603467	rs_727504819	4 SubmittersRCV000763976 RCV000388257 RCV001027695 RCV001250384
NM_005633.4(SOS1):c.3387C>T (p.Gly1129=)	SNV Germline	Chr2:38989274	Conflicting classifications of pathogenicity	Condition: not provided RASopathy Noonan syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1624200	rs_772823827	4 SubmittersRCV000307912 RCV001079080 RCV001775112 RCV002450823
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)	SNV Germline	Chr22:20992304	Likely pathogenic	Condition: not provided Noonan syndrome 2 LZTR1-related schwannomatosis Noonan syndrome and Noonan-related syndrome See cases Cardiovascular phenotype Hereditary cancer-predisposing syndrome Short stature Noonan syndrome 10 LZTR1-related schwannomatosis Schwannomatosis RASopathy Noonan syndrome 10	Reviewed By Expert Panel	CA10118715	rs_189150283	16 SubmittersRCV000329167 RCV001706423 RCV001799649 RCV001813447 RCV002252087 RCV002429235 RCV000736158 RCV000763074 RCV001193024 RCV004732473 RCV003387519
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 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1624546	rs_758699499	6 SubmittersRCV000589437 RCV001240108 RCV001543366 RCV002467721 RCV002467722 RCV004992164
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 Fibromatosis, gingival, 1 Noonan syndrome 4 Condition: not provided Noonan syndrome 4	Criteria Provided Conflicting Classifications	CA10613332	rs_115153488	3 SubmittersRCV000312429 RCV002504135 RCV003422317 RCV000394415
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 Condition: not provided Noonan syndrome and Noonan-related syndrome not specified Noonan syndrome Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA1624123	rs_371408734	9 SubmittersRCV000345549 RCV000379826 RCV000525329 RCV000764404 RCV001590981 RCV001813466 RCV001175064 RCV001261115 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	Noonan syndrome 4 Condition: not provided Fibromatosis, gingival, 1 Noonan syndrome 4 Fibromatosis, gingival, 1	Criteria Provided Conflicting Classifications	CA10615222	rs_773935049	3 SubmittersRCV000401021 RCV003409534 RCV002487492 RCV000343552
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	LEOPARD syndrome 2 Noonan syndrome 5 Condition: not provided RASopathy not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA10617130	rs_886057915	5 SubmittersRCV000359991 RCV000308393 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_001042492.3(NF1):c.4330A>G (p.Lys1444Glu)

SNV
Germline/somatic

Chr17:31258500

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA251440

rs_137854550

21 SubmittersRCV000000364 RCV000489593 RCV000626644 RCV000762990 RCV002305424 RCV002310992 RCV003460397 RCV004798706

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

SNV
Germline/somatic

Chr17:31334927

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA325489

rs_137854552

22 SubmittersRCV000000371 RCV000418287 RCV000492774 RCV001009602 RCV000762995 RCV003460398 RCV004547450 RCV004562178 RCV004668704 RCV004558221

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
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

CA325494

rs_137854560

20 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
Juvenile myelomonocytic leukemia
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Juvenile myelomonocytic leukemia
NF1-related disorder
Neurofibromatosis-Noonan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA325499

rs_137854557

32 SubmittersRCV000000382 RCV000492667 RCV000757556 RCV001009573 RCV001257527 RCV001813925 RCV002504731 RCV003460400 RCV004737131 RCV004783716

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

SNV
Germline

Chr17:31201044

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA212552

rs_137854563

5 SubmittersRCV000000398 RCV000000399 RCV002496218 RCV002476903

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
Noonan syndrome-like disorder with loose anagen hair
Condition: not provided
Inborn genetic diseases
Polycystic kidney disease 4
Noonan syndrome and Noonan-related syndrome
Noonan syndrome-like disorder with loose anagen hair 1
Pectus excavatum
SHOC2-related disorder

Reviewed By Expert Panel

CA118524

rs_267607048

43 SubmittersRCV000007223 RCV000149834 RCV000208379 RCV000853278 RCV000213000 RCV000624656 RCV002221469 RCV001813181 RCV003330311 RCV004752691

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

SNV
Germline

Chr19:4110559

Likely pathogenic

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

Reviewed By Expert Panel

CA119417

rs_121434499

10 SubmittersRCV000008763 RCV000043675 RCV000158022 RCV000521479 RCV001813182 RCV003390660 RCV003450621

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

SNV
Germline/somatic

Chr11:14294844

Pathogenic

Noonan syndrome 12
Ovarian neoplasm
Noonan syndrome

Reviewed By Expert Panel

CA120437

rs_113954997

5 SubmittersRCV000010054 RCV001072115 RCV000852398

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

SNV
Germline/somatic

Chr12:25245347

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA122534

rs_112445441

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

NM_004985.5(KRAS):c.178G>C (p.Gly60Arg)

SNV
Germline

Chr12:25227346

Pathogenic

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

Reviewed By Expert Panel

CA273416

rs_104894359

9 SubmittersRCV000013416 RCV000254661 RCV000157935 RCV001267316 RCV000844635 RCV000521390 RCV003313917

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

SNV
Germline

Chr12:25209904

Pathogenic

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

Reviewed By Expert Panel

CA256478

rs_104894360

16 SubmittersRCV000013418 RCV000013417 RCV000157940 RCV000212501 RCV000507330 RCV000523200 RCV000763307 RCV000844634 RCV003450634 RCV004018621

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

SNV
Germline

Chr12:25227351

Pathogenic

Noonan syndrome 3
Noonan syndrome
Condition: not provided
RASopathy

Reviewed By Expert Panel

CA256480

rs_104894364

7 SubmittersRCV000013419 RCV000211785 RCV000157933 RCV000704828

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

SNV
Germline/somatic

Chr12:25245345

Pathogenic

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

Reviewed By Expert Panel

CA156358

rs_104894365

21 SubmittersRCV000013420 RCV000119792 RCV000157945 RCV001266727 RCV000844637 RCV001813184 RCV000212499 RCV000521254

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
Autoimmune lymphoproliferative syndrome type 4
Cardiofaciocutaneous syndrome 2
Noonan syndrome 3
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
Noonan syndrome
Inborn genetic diseases

Reviewed By Expert Panel

CA234191

rs_104894361

4 SubmittersRCV000013425 RCV000153427 RCV000520745 RCV000623267

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

SNV
Germline

Chr12:25245372

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA250291

rs_193929331

11 SubmittersRCV000013427 RCV000149836 RCV000364781 RCV002291547 RCV000605141 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
Condition: not provided
Noonan syndrome 3
Lip and oral cavity carcinoma
Epidermal nevus

Criteria Provided
Multiple Submitters
No Conflicts

CA122547

rs_28933406

5 SubmittersRCV000013434 RCV000022795 RCV000681435 RCV000587258 RCV001255683 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
Nevus sebaceous
Epidermal nevus with urothelial cancer, somatic
Condition: not provided
RASopathy
Wooly hair nevus
Lip and oral cavity carcinoma
Rhabdomyosarcoma
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
See cases
HRAS-related disorder
Noonan syndrome 1
Epidermal nevus
6 conditions

Reviewed By Expert Panel

CA122549

rs_104894229

41 SubmittersRCV000013435 RCV000013436 RCV000029209 RCV000022796 RCV000081295 RCV000149828 RCV000487471 RCV001255689 RCV001257537 RCV001813185 RCV002453256 RCV003156059 RCV003398496 RCV003450635 RCV003450636 RCV004795404

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

SNV
Germline

Chr11:534288

Pathogenic

Costello syndrome
Condition: not provided
Inborn genetic diseases
6 conditions
Noonan syndrome and Noonan-related syndrome
Rhabdomyosarcoma

Criteria Provided
Multiple Submitters
No Conflicts

CA256486

rs_104894230

10 SubmittersRCV000013437 RCV000207503 RCV000623953 RCV000762848 RCV001813186 RCV001257536

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

SNV
Germline

Chr11:534285

Pathogenic/Likely pathogenic

Costello syndrome
Condition: not provided
RASopathy
Non-immune hydrops fetalis
Noonan syndrome and Noonan-related syndrome
6 conditions
HRAS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA256488

rs_104894226

15 SubmittersRCV000013438 RCV000157913 RCV000781469 RCV001376018 RCV001813187 RCV002476960 RCV003390677

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

SNV
Germline

Chr11:534286

Pathogenic

Costello syndrome
RASopathy
Condition: not provided
6 conditions
Noonan syndrome
Noonan syndrome and Noonan-related syndrome
Linear nevus sebaceous syndrome
HRAS-related disorder

Reviewed By Expert Panel

CA295247

rs_104894228

17 SubmittersRCV000013440 RCV000149831 RCV000207504 RCV000762847 RCV000678903 RCV001813188 RCV004767004 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
Lip and oral cavity carcinoma
Non-immune hydrops fetalis
Noonan syndrome and Noonan-related syndrome
HRAS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA122555

rs_104894230

14 SubmittersRCV000013446 RCV000029210 RCV000038460 RCV000149830 RCV000212496 RCV001255681 RCV001375956 RCV001813189 RCV004739303

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

SNV
Germline

Chr2:39051211

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA235346

rs_137852813

13 SubmittersRCV000013730 RCV000211854 RCV000157691 RCV000554031 RCV000856805 RCV002415412

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

SNV
Germline

Chr2:39022774

Pathogenic

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

Reviewed By Expert Panel

CA235350

rs_137852814

28 SubmittersRCV000013731 RCV000515160 RCV002399321 RCV000156980 RCV000157693 RCV000159174

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

SNV
Germline

Chr2:39022772

Pathogenic

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

Reviewed By Expert Panel

CA256580

rs_267607079

13 SubmittersRCV000013732 RCV000159177 RCV000156992 RCV000654947 RCV000763086 RCV000787998 RCV000856746

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

Criteria Provided
Multiple Submitters
No Conflicts

CA256749

rs_121918453

16 SubmittersRCV000014252 RCV000033471 RCV000762883 RCV001813190 RCV000157001 RCV000212890 RCV000576667

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

SNV
Germline

Chr12:112450395

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA235319

rs_121918454

20 SubmittersRCV000014253 RCV000587329 RCV000157006 RCV001813191 RCV002426502 RCV000157679 RCV000515213 RCV000707460

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

SNV
Germline

Chr12:112477719

Pathogenic

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

Reviewed By Expert Panel

CA220158

rs_28933386

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

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

SNV
Germline

Chr12:112477720

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA235328

rs_121918455

37 SubmittersRCV000014255 RCV000033518 RCV001027696 RCV001813193 RCV000515421 RCV004532339 RCV000037669 RCV000157682 RCV000588570 RCV001197417

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

SNV
Germline

Chr12:112473023

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA220149

rs_121918456

32 SubmittersRCV000030620 RCV000033504 RCV000055890 RCV000077859 RCV000492270 RCV000577894 RCV000617951 RCV000768062 RCV000824744 RCV001000775 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
LEOPARD syndrome 1
Juvenile myelomonocytic leukemia
Noonan syndrome 1
Metachondromatosis
Juvenile myelomonocytic leukemia
Noonan syndrome
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
PTPN11-related disorder

Reviewed By Expert Panel

CA234749

rs_121918460

25 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
LEOPARD syndrome 1
Juvenile myelomonocytic leukemia
Noonan syndrome 1
Metachondromatosis
Metachondromatosis
PTPN11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA177665

rs_121918461

24 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

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

Reviewed By Expert Panel

CA220134

rs_121918457

40 SubmittersRCV000033533 RCV000055884 RCV000077851 RCV000106323 RCV000157014 RCV000208002 RCV000515406 RCV000723326 RCV000853462 RCV001813197 RCV002390104

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

SNV
Germline

Chr12:112489080

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA180739

rs_121918458

13 SubmittersRCV000014260 RCV000156995 RCV000212897 RCV000033543 RCV001851849 RCV002490364 RCV004984639 RCV004532342

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

SNV
Germline

Chr12:112450368

Pathogenic

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

Reviewed By Expert Panel

CA220146

rs_121918459

46 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
LEOPARD syndrome 1
Metachondromatosis
Juvenile myelomonocytic leukemia
Noonan syndrome 1
Metachondromatosis
RASopathy
Noonan syndrome
Condition: not provided
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
LEOPARD syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA256752

rs_121918462

19 SubmittersRCV000014262 RCV000515312 RCV003147287 RCV000033475 RCV000156985 RCV000212891 RCV001813199 RCV002415414 RCV003147288

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
Metachondromatosis
LEOPARD syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA204408

rs_121918463

28 SubmittersRCV000014263 RCV000037663 RCV000077862 RCV000190417 RCV000458650 RCV001376066 RCV001813200 RCV004532343 RCV004562207 RCV004562208

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

SNV
Germline/somatic

Chr12:112450406

Conflicting classifications of pathogenicity

Juvenile myelomonocytic leukemia
Noonan syndrome
Noonan syndrome 1
RASopathy
Condition: not provided
Malignant neoplastic disease
PTPN11-related disorder

Criteria Provided
Conflicting Classifications

CA123038

rs_121918464

11 SubmittersRCV000014264 RCV000156974 RCV004813039 RCV000033476 RCV000212892 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
Noonan syndrome
RASopathy
Condition: not provided
PTPN11-related disorder
Cardiovascular phenotype
LEOPARD syndrome 1
Metachondromatosis
Juvenile myelomonocytic leukemia
Noonan syndrome 1
Noonan syndrome and Noonan-related syndrome
Noonan syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA235322

rs_121918466

30 SubmittersRCV000014268 RCV000037641 RCV000033480 RCV000157680 RCV004532344 RCV002453257 RCV000515381 RCV001813202 RCV000590740

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

SNV
Germline

Chr12:112488444

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA261534

rs_121918468

12 SubmittersRCV000037611 RCV000033530 RCV000055882 RCV000529342 RCV001002017 RCV004532345 RCV001089941

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

SNV
Germline

Chr12:112488454

Pathogenic

Condition: not provided
RASopathy
LEOPARD syndrome 1
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 SubmittersRCV000077850 RCV000033531 RCV000055883 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 3
Noonan syndrome with multiple lentigines
Noonan syndrome with multiple lentigines
Noonan syndrome
Noonan syndrome 1
LEOPARD syndrome 1
Noonan syndrome 1
PTPN11-related disorder

Reviewed By Expert Panel

CA256758

rs_121918470

15 SubmittersRCV000014272 RCV000033554 RCV000210036 RCV000586289 RCV000520822 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
RASopathy
PTPN11-related disorder
Cardiovascular phenotype
LEOPARD syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA256761

rs_121918470

11 SubmittersRCV000014273 RCV000414743 RCV000780654 RCV004734518 RCV004018624 RCV001002770

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

SNV
Germline

Chr12:112419116

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA256764

rs_267606990

19 SubmittersRCV000014277 RCV000988912 RCV000694389 RCV002496356 RCV000211847 RCV004795408 RCV000033445 RCV003156060

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
Noonan syndrome 1
Cardiofaciocutaneous syndrome 3
Melorheostosis
Noonan syndrome 1
MAP2K1-related disorder
Cardiovascular phenotype

Reviewed By Expert Panel

CA280036

rs_121908595

32 SubmittersRCV000043672 RCV000208757 RCV000207506 RCV000541525 RCV000763362 RCV001197351 RCV003450638 RCV004532347 RCV004984640

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

SNV
Germline

Chr11:119278170

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA123484

rs_267606704

13 SubmittersRCV000702464 RCV000033352 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
See cases
Juvenile myelomonocytic leukemia
CBL-related disorder
RASopathy
Juvenile myelomonocytic leukemia
CBL-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA123492

rs_267606706

14 SubmittersRCV000014822 RCV000441724 RCV002274879 RCV003315401 RCV003387502 RCV000691502 RCV001527385

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

SNV
Germline/somatic

Chr1:114716124

Likely pathogenic

Carcinoma of colon
Large congenital melanocytic nevus
Acute myeloid leukemia
Condition: not provided
Noonan syndrome 6

Criteria Provided
Multiple Submitters
No Conflicts

CA151261

rs_121434595

4 SubmittersRCV000014913 RCV000114743 RCV000438070 RCV004767008 RCV001781267

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

SNV
Germline/somatic

Chr1:114713908

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA123618

rs_11554290

9 SubmittersRCV000014914 RCV000037574 RCV000148032 RCV004668730 RCV000032847 RCV000114744 RCV000114745 RCV000413804 RCV003992155

NM_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
Acute megakaryoblastic leukemia in down syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA123620

rs_121434596

6 SubmittersRCV000014915 RCV000022690 RCV000144962 RCV000157672 RCV001293767

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

SNV
Germline

Chr1:114713941

Pathogenic

Noonan syndrome 6
Noonan syndrome 1
RASopathy
Noonan syndrome

Reviewed By Expert Panel

CA257019

rs_267606921

7 SubmittersRCV000014916 RCV000208537 RCV000463185 RCV000211835

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

SNV
Germline

Chr1:114713911

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA257021

rs_267606920

8 SubmittersRCV000014917 RCV000208552 RCV000158982 RCV001382056 RCV004984642 RCV003415702

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

SNV
Germline

Chr3:12604200

Pathogenic

Noonan syndrome 5
LEOPARD syndrome 2
RASopathy
Noonan syndrome
Condition: not provided
Noonan syndrome with multiple lentigines
Noonan syndrome
Noonan syndrome 1
Noonan syndrome and Noonan-related syndrome
RAF1-related disorder
See cases
Cardiovascular phenotype
Noonan syndrome with multiple lentigines
Dilated cardiomyopathy 1NN
LEOPARD syndrome 2
Noonan syndrome 5

Reviewed By Expert Panel

CA235334

rs_80338796

41 SubmittersRCV000014985 RCV000014986 RCV000149826 RCV000157426 RCV000157685 RCV000824754 RCV000856803 RCV001813205 RCV001731288 RCV003231105 RCV002399323 RCV000020509 RCV000515222

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

SNV
Germline

Chr3:12604189

Pathogenic

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

Reviewed By Expert Panel

CA257062

rs_121434594

13 SubmittersRCV000014987 RCV000208421 RCV001813206 RCV000618568 RCV000211849 RCV000468714 RCV000622893 RCV003450640 RCV000159076

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

Chr3:12584624

Pathogenic

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

Reviewed By Expert Panel

CA257066

rs_80338797

11 SubmittersRCV000014990 RCV000020508 RCV000014989 RCV000159089 RCV000254689 RCV000440827 RCV004532353 RCV000824753 RCV001256891

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

SNV
Germline/somatic

Chr7:140781617

Pathogenic

Carcinoma of colon
RASopathy
Condition: not provided
Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
Noonan syndrome

Reviewed By Expert Panel

CA250636

rs_121913348

7 SubmittersRCV000014997 RCV000033304 RCV000207512 RCV001261044 RCV000844618

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

SNV
Germline

Chr7:140801536

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA123651

rs_121913369

11 SubmittersRCV000015003 RCV000033333 RCV000208539 RCV001813207 RCV000030948 RCV002271369 RCV000505705 RCV002513056

NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)

SNV
Germline

Chr7:140801502

Pathogenic

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

Reviewed By Expert Panel

CA222583

rs_180177035

33 SubmittersRCV000015007 RCV000033289 RCV000080904 RCV000208766 RCV001027771 RCV001261967 RCV001329219 RCV001813208 RCV001813744 RCV003224098 RCV004018628 RCV004752707

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

SNV
Germline

Chr7:140781602

Pathogenic

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

Reviewed By Expert Panel

CA279970

rs_121913355

18 SubmittersRCV000015008 RCV000212152 RCV000506575 RCV001813209 RCV003450641 RCV000033307 RCV000211748 RCV002287336

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
6 conditions

Criteria Provided
Multiple Submitters
No Conflicts

CA279972

rs_180177037

9 SubmittersRCV000015010 RCV000207517 RCV000779848 RCV001813210 RCV004795412

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

Reviewed By Expert Panel

CA279976

rs_180177040

17 SubmittersRCV000015013 RCV004018631 RCV000033329 RCV000211751 RCV000474979 RCV003450642

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 7
LEOPARD syndrome 3
Lung carcinoma
Noonan syndrome 1
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

Chr3:12585745

Pathogenic

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

Reviewed By Expert Panel

CA261612

rs_80338799

6 SubmittersRCV000037676 RCV000020507 RCV000523483 RCV000621393 RCV000159086

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
RASopathy
Cardiofaciocutaneous syndrome 1
Noonan syndrome 1
LEOPARD syndrome 3
Noonan syndrome 7
Lung carcinoma
Cardiofaciocutaneous syndrome 1
Cardio-facio-cutaneous syndrome
BRAF-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA259660

rs_387906660

19 SubmittersRCV000022678 RCV000033281 RCV000208540 RCV000211753 RCV000545320 RCV000515432 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
Cardiofaciocutaneous syndrome 1
Noonan syndrome 1
LEOPARD syndrome 3
Noonan syndrome 7
Lung carcinoma
RASopathy
Cardiofaciocutaneous syndrome 1
LEOPARD syndrome 3
Noonan syndrome 7
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

5 SubmittersRCV000022682 RCV000208560 RCV000191066 RCV001781297

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

SNV
Germline

Chr11:119278220

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA128665

rs_387906664

3 SubmittersRCV000022698 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_005188.4(CBL):c.1112A>G (p.Tyr371Cys)

SNV
Germline

Chr11:119278182

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA128671

rs_387906666

3 SubmittersRCV000022700 RCV000211127 RCV002223763

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
NEVUS SPILUS, SOMATIC
SPITZ NEVUS, SOMATIC
Costello syndrome
Lip and oral cavity carcinoma
Non-immune hydrops fetalis
Noonan syndrome and Noonan-related syndrome
cutaneous-skeletal hypophosphatemia syndrome
Epidermolytic nevus
HRAS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA129950

rs_104894228

10 SubmittersRCV000029213 RCV000029212 RCV000032852 RCV000173005 RCV000173006 RCV001781319 RCV001255682 RCV001376004 RCV001813211 RCV001849283 RCV003458340 RCV004739310

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
Noonan syndrome 6
Noonan syndrome and Noonan-related syndrome
RASopathy
Autoimmune lymphoproliferative syndrome type 4
NRAS-related disorder
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA130425

rs_121913237

11 SubmittersRCV000032849 RCV000144963 RCV000158980 RCV001781333 RCV001813214 RCV001852659 RCV003221788 RCV003415756 RCV004018703

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
Cardiofaciocutaneous syndrome 1
Noonan syndrome 1
LEOPARD syndrome 3
Noonan syndrome 7
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

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

Reviewed By Expert Panel

CA280029

rs_397507466

6 SubmittersRCV000788012 RCV000688777 RCV002273939 RCV000033284 RCV000055897 RCV000037957

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA280030

rs_397507469

4 SubmittersRCV000212151 RCV000624665 RCV003539764 RCV000033288

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

SNV
Germline/somatic

Chr7:140781617

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA135076

rs_121913348

6 SubmittersRCV000037914 RCV000033302 RCV001813221 RCV002250499 RCV001811232

NM_004333.6(BRAF):c.1403T>C (p.Phe468Ser)

SNV
Germline

Chr7:140781605

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA280002

rs_397507473

8 SubmittersRCV000033305 RCV000037917 RCV000797502 RCV001813222 RCV001293860 RCV002251944 RCV003407389

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

RASopathy
Noonan syndrome
Cardiofaciocutaneous syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA281977

rs_180177039

5 SubmittersRCV000822490 RCV001261045 RCV001089762 RCV000033316

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

SNV
Germline

Chr7:140777995

Conflicting classifications of pathogenicity

Noonan syndrome
RASopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

CA281980

rs_397507477

3 SubmittersRCV000824923 RCV002513320 RCV000033319

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

Chr7:140753348

Pathogenic

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

Reviewed By Expert Panel

CA220161

rs_397507483

12 SubmittersRCV000033332 RCV000077865 RCV000208758 RCV000844615 RCV000856749 RCV001265809

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

SNV
Germline

Chr7:140753339

Pathogenic

Condition: not provided
Noonan syndrome
Cardiofaciocutaneous syndrome 1
RASopathy

Reviewed By Expert Panel

CA281995

rs_121913375

4 SubmittersRCV000033334 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
Cardiofaciocutaneous syndrome 1
Noonan syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA282001

rs_397507484

7 SubmittersRCV000033336 RCV000824928 RCV003321487 RCV002051799 RCV002510565

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

Noonan syndrome
Condition: not provided
RASopathy
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 SubmittersRCV000150893 RCV000157667 RCV000157946 RCV000506533 RCV000576784 RCV001095664 RCV001253410 RCV003224112

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

SNV
Germline

Chr12:25245284

Pathogenic

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

Reviewed By Expert Panel

CA235301

rs_104894366

7 SubmittersRCV000157668 RCV000150892 RCV000232330 RCV003450654 RCV003152670

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
KRAS-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA261707

rs_104894360

5 SubmittersRCV000038274 RCV000157939 RCV000526276 RCV004739314

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

SNV
Germline

Chr1:114716127

Pathogenic

Condition: not provided
Increased nuchal translucency
Noonan syndrome 6

Criteria Provided
Multiple Submitters
No Conflicts

CA297030

rs_121913250

5 SubmittersRCV000158985 RCV001526619 RCV001781335

NM_002524.5(NRAS):c.35G>T (p.Gly12Val)

SNV
Germline/somatic

Chr1:114716126

Pathogenic/Likely pathogenic

Noonan syndrome
Condition: not provided
RASopathy
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA261525

rs_121913237

6 SubmittersRCV000037576 RCV000158986 RCV001377735 RCV004668746

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
Cardiovascular phenotype
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Conflicting Classifications

CA134569

rs_143020946

10 SubmittersRCV000037577 RCV000587570 RCV001100796 RCV001080827 RCV002453281 RCV001813240

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

SNV
Germline

Chr12:112446385

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA235307

rs_397507501

17 SubmittersRCV000157675 RCV000157002 RCV000227194 RCV001330777 RCV001813241 RCV002482941 RCV002399352

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

Reviewed By Expert Panel

CA180973

rs_397507504

10 SubmittersRCV000154561 RCV000557839 RCV000518841 RCV000788006 RCV000995619 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
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
LEOPARD syndrome 1
Noonan syndrome 1
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
LEOPARD syndrome 1
Metachondromatosis
Male infertility with azoospermia or oligozoospermia due to single gene mutation
PTPN11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA261558

rs_397507505

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

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
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
LEOPARD syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA235313

rs_397507506

8 SubmittersRCV000037629 RCV000157677 RCV000587067 RCV000556984 RCV001358687 RCV001813243 RCV004795945

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
Juvenile myelomonocytic leukemia
Metachondromatosis
LEOPARD syndrome 1
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
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
LEOPARD syndrome 1
See cases
PTPN11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA235370

rs_397507507

10 SubmittersRCV000157700 RCV000151684 RCV001219186 RCV002490444 RCV003985264 RCV004532484

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

16 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
Noonan syndrome 1
PTPN11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA282070

rs_397507510

5 SubmittersRCV000033462 RCV000589874 RCV002408495 RCV004698420 RCV004724759

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

SNV
Germline

Chr12:112450361

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA235316

rs_397507510

20 SubmittersRCV000033463 RCV000157678 RCV000576434 RCV000599619 RCV001775072 RCV001813245 RCV002408496 RCV003147304 RCV003147305 RCV003224113 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
Noonan syndrome 1

Reviewed By Expert Panel

CA261565

rs_397507511

11 SubmittersRCV000033469 RCV000037633 RCV000212889 RCV002415446 RCV004795946

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

SNV
Germline

Chr12:112450391

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA273215

rs_397507512

9 SubmittersRCV000033470 RCV000151689 RCV000586528 RCV000686123 RCV003150933 RCV004532486

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

SNV
Germline

Chr12:112450394

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA261571

rs_121918453

5 SubmittersRCV000033472 RCV000037635 RCV001852674 RCV003103718

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
Metachondromatosis
LEOPARD syndrome 1
Noonan syndrome and Noonan-related syndrome
Noonan syndrome 1
PTPN11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA261580

rs_397507514

12 SubmittersRCV000033478 RCV000037639 RCV000254683 RCV000762884 RCV001813246 RCV003150934 RCV004734537

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

SNV
Germline

Chr12:112450408

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA261577

rs_397507514

7 SubmittersRCV000033479 RCV000037638 RCV000472904 RCV000856760 RCV002453282

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

SNV
Germline

Chr12:112450497

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA261584

rs_397507517

10 SubmittersRCV000033483 RCV000157021 RCV000212893 RCV001261998 RCV001813247

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
Noonan syndrome 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA261587

rs_397507518

8 SubmittersRCV000033484 RCV000037645 RCV000589214 RCV000815390 RCV001813248 RCV004771457 RCV004984651

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

8 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
Noonan syndrome 1
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA261590

rs_397507520

8 SubmittersRCV000033490 RCV000212894 RCV000824742 RCV000995621 RCV001267275

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

SNV
Germline

Chr12:112453279

Pathogenic

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

Reviewed By Expert Panel

CA177671

rs_397507520

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

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

SNV
Germline

Chr12:112472954

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA235325

rs_397507523

11 SubmittersRCV000033497 RCV000157681 RCV000585640 RCV000506790 RCV000824743 RCV002399353

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

SNV
Germline

Chr12:112472968

Pathogenic

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

Reviewed By Expert Panel

CA234739

rs_376607329

36 SubmittersRCV000037658 RCV000153788 RCV000234910 RCV000477501 RCV000723292 RCV000988915 RCV001253554 RCV001536068 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
Metachondromatosis
LEOPARD syndrome 1
Noonan syndrome with multiple lentigines
PTPN11-related disorder
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA261597

rs_397507527

8 SubmittersRCV000033502 RCV000037660 RCV000703823 RCV001729355 RCV003147308 RCV003147309 RCV004700300 RCV004545735 RCV004658964

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

SNV
Germline

Chr12:112473011

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_397507528

4 SubmittersRCV001111779 RCV001109482 RCV001109483 RCV001264525 RCV001294974 RCV003298038

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

SNV
Germline

Chr12:112473031

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA220152

rs_397507529

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

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

SNV
Germline

Chr12:112473033

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA261600

rs_397507530

10 SubmittersRCV000033506 RCV000037661 RCV001027860 RCV001852676 RCV002444454 RCV004734538

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

SNV
Germline

Chr12:112473040

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_397507531

6 SubmittersRCV001027842 RCV002508779 RCV003224796 RCV003539766 RCV004532489 RCV004593977

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

SNV
Germline

Chr12:112473040

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA220155

rs_397507531

18 SubmittersRCV000037662 RCV000077861 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
RASopathy
Noonan syndrome and Noonan-related syndrome
See cases
Cardiovascular phenotype
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
LEOPARD syndrome 1
PTPN11-related disorder
Noonan syndrome 1
LEOPARD syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA261607

rs_121918455

14 SubmittersRCV000033517 RCV000037668 RCV001193110 RCV001813251 RCV002287350 RCV002371807 RCV002482942 RCV004532491 RCV004668747 RCV004795947

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

SNV
Germline

Chr12:112477913

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA282105

rs_369739920

10 SubmittersRCV000033521 RCV000220386 RCV001813253 RCV001711218 RCV002381281 RCV003315538

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

SNV
Germline

Chr12:112477971

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA282120

rs_397507536

8 SubmittersRCV000033528 RCV001725940 RCV001852677 RCV001813255 RCV001818207 RCV004018713

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

SNV
Germline

Chr12:112488444

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA261537

rs_121918468

5 SubmittersRCV001060541 RCV001729356 RCV000033529 RCV000037612

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
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
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
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
LEOPARD syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA261543

rs_397507539

13 SubmittersRCV000033536 RCV000157010 RCV000254684 RCV000984919 RCV001813257 RCV004795948

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

SNV
Germline

Chr12:112489048

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA261546

rs_397507540

8 SubmittersRCV000033537 RCV000037617 RCV001378165 RCV001730478 RCV002390130 RCV002490446

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

SNV
Germline

Chr12:112489048

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA273407

rs_397507540

18 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 1
Noonan syndrome
Noonan syndrome with multiple lentigines
Noonan syndrome and Noonan-related syndrome
Metachondromatosis
Noonan syndrome 1
LEOPARD syndrome 1
Juvenile myelomonocytic leukemia
Cardiovascular phenotype
Metachondromatosis
PTPN11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA273451

rs_397507541

20 SubmittersRCV000033539 RCV000055885 RCV000254686 RCV000722171 RCV000824747 RCV001813259 RCV002490447 RCV004018715 RCV004558285 RCV004532493

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

SNV
Germline

Chr12:112489069

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA273434

rs_397507542

16 SubmittersRCV000033540 RCV000055886 RCV000212896 RCV000494687 RCV000626828 RCV000824748 RCV001813260

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

SNV
Germline

Chr12:112489078

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA261549

rs_397507543

13 SubmittersRCV000033541 RCV000037618 RCV000466382 RCV001800333 RCV002260947 RCV004018716 RCV004795949

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

SNV
Germline

Chr12:112489080

Pathogenic

Noonan syndrome
Juvenile myelomonocytic leukemia
Condition: not provided
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA273454

rs_121918458

8 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

10 SubmittersRCV000033544 RCV000037619 RCV000781773 RCV002227049

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

SNV
Germline

Chr12:112489083

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA273459

rs_397507545

18 SubmittersRCV000033545 RCV000210040 RCV000515165 RCV000824750 RCV001028095 RCV001374913 RCV002390131 RCV004532494

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

SNV
Germline

Chr12:112489083

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA220137

rs_397507545

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

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

SNV
Germline

Chr12:112489084

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA282132

rs_397507546

9 SubmittersRCV000033548 RCV000532971 RCV000677651 RCV001330778 RCV002490448 RCV003450655

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

SNV
Germline

Chr12:112489086

Pathogenic

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

Reviewed By Expert Panel

CA220140

rs_397507547

33 SubmittersRCV000033549 RCV000077853 RCV000156983 RCV000677652 RCV000762887 RCV001027841 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
Congenital long QT syndrome
Noonan syndrome 1
PTPN11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA235331

rs_397507548

16 SubmittersRCV000033550 RCV000055887 RCV000157683 RCV000154371 RCV001849289 RCV002390133 RCV004732584 RCV004554638 RCV004541060

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 with multiple lentigines
Noonan syndrome
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
Metachondromatosis
Noonan syndrome 1
LEOPARD syndrome 1
Juvenile myelomonocytic leukemia
Noonan syndrome 1
PTPN11-related disorder

Reviewed By Expert Panel

CA220143

rs_397507550

12 SubmittersRCV000077854 RCV000521890 RCV002399355 RCV003147313 RCV003147314 RCV002490449 RCV003147312 RCV004532497

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

Criteria Provided
Conflicting Classifications

CA134693

rs_145611571

13 SubmittersRCV000037673 RCV000253580 RCV000463359 RCV000624707 RCV000680304 RCV000987120 RCV001149006 RCV001261025 RCV001813264 RCV004541062

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

SNV
Germline

Chr3:12608823

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA261614

rs_397516822

7 SubmittersRCV000788414 RCV001254110 RCV001213204 RCV003362668 RCV000037693

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

SNV
Germline

Chr3:12604202

Likely 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

Chr3:12604201

Likely pathogenic

RASopathy
Condition: not provided
Noonan syndrome
Primary familial hypertrophic cardiomyopathy

Reviewed By Expert Panel

CA184835

rs_727505017

5 SubmittersRCV000520189 RCV000159073 RCV000156441 RCV000208439

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

Chr3:12604194

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA339739

rs_397516827

4 SubmittersRCV001813266 RCV002504857 RCV000204940

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

Chr3:12604189

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA261626

rs_121434594

8 SubmittersRCV000208199 RCV000211848 RCV000354359 RCV000763094 RCV001217833 RCV004541063 RCV004786288

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

SNV
Germline

Chr3:12604188

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA134753

rs_397516828

8 SubmittersRCV000037706 RCV000159077 RCV000277865 RCV000590070 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

Chr3:12604182

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Condition: not provided
RASopathy
Noonan syndrome 5

Criteria Provided
Multiple Submitters
No Conflicts

CA16602249

rs_397516830

5 SubmittersRCV002408497 RCV000680627 RCV000686662 RCV003137555

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

SNV
Germline

Chr3:12600225

Conflicting classifications of pathogenicity

Condition: not provided
RASopathy
Noonan syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA10602363

rs_886041231

4 SubmittersRCV000275940 RCV000820134 RCV001249756 RCV003162288

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

SNV
Germline

Chr3:12599717

Pathogenic

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

Reviewed By Expert Panel

CA134687

rs_397516813

8 SubmittersRCV000159081 RCV000473341 RCV000987116 RCV001542563 RCV000037671

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

SNV
Germline

Chr3:12590889

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA297127

rs_730881002

4 SubmittersRCV000159084 RCV001852678 RCV001813271 RCV004668748

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

SNV
Germline

Chr3:12585794

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA297130

rs_730881003

6 SubmittersRCV000159085 RCV000602545 RCV001852679 RCV004593978 RCV003444149

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

SNV
Germline

Chr3:12585760

Pathogenic/Likely pathogenic

Condition: not provided
RASopathy
RAF1-related disorder
Noonan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA261610

rs_397516815

5 SubmittersRCV000434022 RCV000555975 RCV004554639 RCV000037675

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-like disorder with loose anagen hair 1
Noonan syndrome
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA297172

rs_730881019

8 SubmittersRCV000159109 RCV000766822 RCV000799563 RCV001004912 RCV001261147 RCV001813276 RCV002390134

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
Cardiovascular phenotype
SOS1-related disorder
Noonan syndrome 4

Criteria Provided
Conflicting Classifications

CA297244

rs_201352584

9 SubmittersRCV000460292 RCV000514749 RCV000986626 RCV000852537 RCV002444455 RCV003407394 RCV004799178

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
Noonan syndrome 4

Reviewed By Expert Panel

CA261739

rs_397517164

7 SubmittersRCV000038546 RCV000159144 RCV000537356 RCV001813280 RCV004795339

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

SNV
Germline

Chr2:39056704

Pathogenic

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

Reviewed By Expert Panel

CA235342

rs_397517172

20 SubmittersRCV000038560 RCV000157689 RCV000476014 RCV001526618 RCV001002150 RCV001729357 RCV002345263 RCV003914900

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

SNV
Germline

Chr2:39054822

Conflicting classifications of pathogenicity

RASopathy
Inborn genetic diseases
Noonan syndrome 4
not specified

Criteria Provided
Conflicting Classifications

CA136165

rs_397517174

4 SubmittersRCV000466303 RCV000624181 RCV004018718 RCV000038563

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

SNV
Germline

Chr2:39054763

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA10602366

rs_886041241

9 SubmittersRCV000293469 RCV000761106 RCV001069595 RCV001543363 RCV002247417 RCV002467503 RCV002467504

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

SNV
Germline

Chr2:39051202

Pathogenic

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

Reviewed By Expert Panel

CA235344

rs_137852813

18 SubmittersRCV000157690 RCV000208414 RCV000539275 RCV000487454 RCV001813283 RCV002415451 RCV003150936

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

SNV
Germline

Chr2:39023159

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA297301

rs_138459502

5 SubmittersRCV000159188 RCV000556655 RCV002444456 RCV002467508 RCV001192794 RCV002467507

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

SNV
Germline

Chr2:39023131

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA235348

rs_397517147

7 SubmittersRCV000038513 RCV000157692 RCV000467110 RCV001813285 RCV002467509 RCV003450658

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

SNV
Germline

Chr2:39023128

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_397517148

6 SubmittersRCV001002596 RCV001217212 RCV001508984 RCV002467510 RCV003460541 RCV004991981

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

SNV
Germline

Chr2:39023128

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA261717

rs_397517148

13 SubmittersRCV000038514 RCV000626886 RCV000781878 RCV000788323 RCV000856735 RCV001270835 RCV001526663 RCV001813286 RCV002054543 RCV002381284

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
Fibromatosis, gingival, 1
Noonan syndrome 4
Noonan syndrome and Noonan-related syndrome
Noonan syndrome 4
Noonan syndrome 1

Reviewed By Expert Panel

CA234977

rs_397517149

14 SubmittersRCV000038515 RCV000153986 RCV000654915 RCV000623399 RCV000763087 RCV001813287 RCV002054544 RCV003450659

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

SNV
Germline

Chr2:39022784

Pathogenic/Likely pathogenic

Condition: not provided
Noonan syndrome
Noonan syndrome 4
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA297272

rs_730881045

5 SubmittersRCV000159171 RCV001261087 RCV002467514 RCV001381689

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

SNV
Germline

Chr2:39022779

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA261724

rs_397517153

12 SubmittersRCV000038520 RCV000159172 RCV000550001 RCV002467515 RCV003150937 RCV003398589 RCV004668749

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

SNV
Germline

Chr2:39022773

Likely pathogenic

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

Reviewed By Expert Panel

CA16616762

rs_397517154

5 SubmittersRCV000484403 RCV000787996 RCV000685882 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
Noonan syndrome 1
SOS1-related disorder

Reviewed By Expert Panel

CA261728

rs_397517154

14 SubmittersRCV000159176 RCV000208093 RCV000528274 RCV000626887 RCV001507015 RCV001813288 RCV002399361 RCV003450660 RCV003390718

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

SNV
Germline

Chr2:39022773

Pathogenic

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

Reviewed By Expert Panel

CA261726

rs_397517154

18 SubmittersRCV000159175 RCV000157017 RCV000587705 RCV000856745 RCV001062868 RCV001169984 RCV001335308

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

SNV
Germline

Chr2:39022772

Pathogenic

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

Reviewed By Expert Panel

CA261730

rs_267607079

12 SubmittersRCV000038525 RCV000213008 RCV000149832 RCV000787997 RCV000515298 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

Condition: not provided
Noonan syndrome
Noonan syndrome 4
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA261731

rs_397517156

5 SubmittersRCV000159126 RCV000038531 RCV000495874 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
Cardiovascular phenotype
SOS1-related disorder
RASopathy
Fibromatosis, gingival, 1
Noonan syndrome 4
Noonan syndrome and Noonan-related syndrome
Noonan syndrome 4

Reviewed By Expert Panel

CA261734

rs_397517159

14 SubmittersRCV000038535 RCV000207492 RCV002453285 RCV003421942 RCV000471633 RCV000763085 RCV001813296 RCV004786289

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

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

Criteria Provided
Conflicting Classifications

CA1624178

rs_375550588

6 SubmittersRCV000463473 RCV000577966 RCV000592644 RCV001588841 RCV002453287

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

SNV
Germline

Chr2:38986302

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA297237

rs_730881035

6 SubmittersRCV000589150 RCV001230717 RCV002467528 RCV002477050 RCV002453288 RCV002467527

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

SNV
Germline

Chr2:38986097

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA297196

rs_730881026

6 SubmittersRCV000159118 RCV000231740 RCV001703448 RCV001813302 RCV002345265 RCV004742234

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

Chr15:66436825

Pathogenic/Likely pathogenic

Cardio-facio-cutaneous syndrome
Condition: not provided
RASopathy
Noonan syndrome and Noonan-related syndrome
Cardiofaciocutaneous syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

CA279996

rs_397516792

10 SubmittersRCV000037595 RCV000680623 RCV002513329 RCV001813306 RCV001542689

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

SNV
Germline

Chr19:4117448

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9091063

rs_759061964

6 SubmittersRCV000413006 RCV000824945 RCV001063339 RCV003153319 RCV003162290

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

SNV
Germline

Chr15:66435145

Pathogenic

RASopathy
Cardiofaciocutaneous syndrome 3
Cardio-facio-cutaneous syndrome
Condition: not provided
Autism spectrum disorder
Cardio-facio-cutaneous syndrome
Noonan syndrome
MAP2K1-related RASopathy
Cardiovascular phenotype
Melorheostosis
Cardiofaciocutaneous syndrome 3
Cardiofaciocutaneous syndrome 1

Reviewed By Expert Panel

CA180743

rs_727504317

16 SubmittersRCV000158004 RCV000192193 RCV000208771 RCV000212506 RCV000754677 RCV000844673 RCV001095724 RCV002415455 RCV003224114 RCV004760352

NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys)

SNV
Germline

Chr19:4101105

Likely pathogenic

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

Reviewed By Expert Panel

CA180944

rs_727504382

9 SubmittersRCV000254662 RCV000158024 RCV000844675 RCV000524055

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

Criteria Provided
Conflicting Classifications

CA215735

rs_200302954

14 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, familial spinal
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis

Criteria Provided
Conflicting Classifications

CA161065

rs_112306990

23 SubmittersRCV000034585 RCV000121638 RCV000129680 RCV000199175 RCV000268253 RCV000264802 RCV000323382

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, type 1
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, familial spinal
Café-au-lait macules with pulmonary stenosis
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
NF1-related disorder

Criteria Provided
Conflicting Classifications

CA164285

rs_148736217

12 SubmittersRCV000034587 RCV000129366 RCV000214790 RCV001082296 RCV001122582 RCV001122581 RCV001122580 RCV002362613 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
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
not specified
Neurofibromatosis, type 1
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
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, familial spinal
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

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

Pathogenic

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

Reviewed By Expert Panel

CA134601

rs_397516791

5 SubmittersRCV000158005 RCV000522848 RCV001813322 RCV004760354

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

10 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
Cardiovascular phenotype
RASopathy
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Conflicting Classifications

CA134673

rs_143433437

7 SubmittersRCV000037651 RCV001569121 RCV002345295 RCV001852783 RCV001813330

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
Cardiovascular phenotype
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
LEOPARD syndrome 1
Noonan syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA261594

rs_397507527

13 SubmittersRCV000037659 RCV000159050 RCV000587886 RCV001330780 RCV002415470 RCV002504894 RCV003338391

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
RASopathy
Condition: not provided
Noonan syndrome 5

Reviewed By Expert Panel

CA134750

rs_397516827

6 SubmittersRCV000037702 RCV000987117 RCV001261032 RCV001250389 RCV001843945 RCV004771458

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

SNV
Germline

Chr3:12604184

Pathogenic/Likely pathogenic

Noonan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA261628

rs_397516829

4 SubmittersRCV000037707 RCV000388842

NM_004333.6(BRAF):c.1409C>G (p.Thr470Arg)

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
LEOPARD syndrome 3
Noonan syndrome 7
RASopathy

Criteria Provided
Conflicting Classifications

CA135091

rs_184144181

5 SubmittersRCV000037926 RCV000263036 RCV000321913 RCV002054681

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

SNV
Germline

Chr7:140753392

Pathogenic/Likely pathogenic

Cardio-facio-cutaneous syndrome
Condition: not provided
Lung carcinoma
Cardiofaciocutaneous syndrome 1
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

Chr7:140753333

Pathogenic

Cardio-facio-cutaneous syndrome
Noonan syndrome
Cardiofaciocutaneous syndrome 1
RASopathy

Criteria Provided
Single Submitter

CA261660

rs_397507484

3 SubmittersRCV000037939 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
RASopathy
Noonan syndrome
Cardio-facio-cutaneous syndrome

Reviewed By Expert Panel

CA135140

rs_397516903

6 SubmittersRCV000037958 RCV000339233 RCV000788008 RCV002513490 RCV000824912

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

SNV
Germline

Chr7:140801487

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA280033

rs_397516904

5 SubmittersRCV000208128 RCV000392102 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
Noonan syndrome and Noonan-related syndrome
RASopathy
Lung cancer
Neoplasm

Criteria Provided
Conflicting Classifications

CA261702

rs_121913240

5 SubmittersRCV000038257 RCV001813342 RCV001209740 RCV003996395 RCV004668756

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

Criteria Provided
Multiple Submitters
No Conflicts

CA135696

rs_397517076

6 SubmittersRCV000038346 RCV000624342 RCV001270818 RCV001789707 RCV001852803 RCV002482996

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
Fibromatosis, gingival, 1
Noonan syndrome 4
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
Noonan syndrome 4
Male subfertility

Criteria Provided
Multiple Submitters
No Conflicts

CA261719

rs_397517150

14 SubmittersRCV000038516 RCV000159164 RCV000474085 RCV003224124 RCV001813354 RCV002381310 RCV002467540 RCV003991573

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

Criteria Provided
Conflicting Classifications

CA136120

rs_202043599

7 SubmittersRCV000038541 RCV000586941 RCV000654932 RCV001138300 RCV001143052 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
Fibromatosis, gingival, 1
Noonan syndrome 4
RASopathy
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA136190

rs_143481916

5 SubmittersRCV000038577 RCV000394772 RCV000349172 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
Cardiovascular phenotype
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Conflicting Classifications

CA142270

rs_147204964

7 SubmittersRCV000041238 RCV000586558 RCV001086208 RCV002399395 RCV001813367

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

SNV
Germline

Chr7:140801531

Pathogenic

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

Reviewed By Expert Panel

CA284654

rs_397509343

5 SubmittersRCV000049222 RCV000824914 RCV000788009 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

10 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
Noonan syndrome and Noonan-related syndrome
RASopathy
Cardiovascular phenotype
RIT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA144537

rs_672601334

21 SubmittersRCV000054404 RCV000159100 RCV000207349 RCV000856747 RCV001813373 RCV001731346 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
Cardiovascular phenotype
Noonan syndrome 1
RIT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA144538

rs_672601335

22 SubmittersRCV000054407 RCV000207348 RCV000298790 RCV001192384 RCV001813374 RCV002433549 RCV003450918 RCV003915017

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

SNV
Germline

Chr17:31225134

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA165914

rs_199474738

20 SubmittersRCV000059160 RCV000130191 RCV000206280 RCV000506837 RCV001009575 RCV001535533 RCV003162463 RCV004549489

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

SNV
Germline

Chr17:31229155

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA219477

rs_199474747

20 SubmittersRCV000059175 RCV000205919 RCV000492608 RCV000507716 RCV000845192 RCV002054910 RCV002453378 RCV003460651 RCV003162464 RCV004798769

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

SNV
Germline

Chr17:31229158

Pathogenic

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA165101

rs_199474786

10 SubmittersRCV000059178 RCV000129792 RCV000823359 RCV002477208

NM_001042492.3(NF1):c.3467A>G (p.Asn1156Ser)

SNV
Germline

Chr17:31232852

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Neurofibromatosis, type 1
Juvenile myelomonocytic leukemia
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

CA219510

rs_199474764

8 SubmittersRCV000059184 RCV001001314 RCV000793336 RCV003460653 RCV004796000 RCV004992007

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

SNV
Germline

Chr17:31233115

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA219534

rs_199474732

6 SubmittersRCV000059190 RCV000696613 RCV002318950 RCV003338403

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

SNV
Germline

Chr17:31235729

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA219546

rs_137854556

22 SubmittersRCV000059193 RCV000213660 RCV000762988 RCV000824729 RCV002318951 RCV002470752

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

SNV
Germline

Chr22:20985828

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA150700

rs_587777176

14 SubmittersRCV000087292 RCV002498472 RCV004700409 RCV002426650 RCV001291541 RCV004786368 RCV003126498

NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu)

SNV
Germline

Chr22:20987548

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA150701

rs_587777177

9 SubmittersRCV001200448 RCV002453416 RCV003315228 RCV004529907 RCV004786369 RCV000087293

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

SNV
Germline

Chr22:20993967

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA150704

rs_587777180

10 SubmittersRCV000087296 RCV001260384 RCV001813376 RCV001312780 RCV002390252 RCV004815183

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

SNV
Germline

Chr3:12604188

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA267618

rs_397516828

6 SubmittersRCV000106325 RCV000211850 RCV000519236 RCV001542564 RCV001221447 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
Condition: not provided
Noonan syndrome
Noonan syndrome and Noonan-related syndrome
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA150798

rs_483352822

9 SubmittersRCV000106331 RCV000301748 RCV000220792 RCV001813378 RCV001844039

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

SNV
Germline

Chr7:140924632

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA157471

rs_587778114

5 SubmittersRCV000680282 RCV001160944 RCV001160945 RCV001222521 RCV000120256

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
Condition: not provided
Neurofibromatosis-Noonan syndrome
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 RCV000587577 RCV001124836 RCV001124835 RCV001124837 RCV004558311

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

SNV
Germline

Chr17:31225143

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA161025

rs_370789267

11 SubmittersRCV000121630 RCV000234708 RCV000220588 RCV000712402 RCV002483222 RCV004558312

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

SNV
Germline

Chr19:4095429

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA292000

rs_587781028

4 SubmittersRCV000126679 RCV001813387 RCV003654206 RCV002408633

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

SNV
Germline

Chr1:114713986

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA292582

rs_9724626

7 SubmittersRCV001813388 RCV000127228 RCV000588495 RCV003905211 RCV001089307 RCV001101050

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
Cardiovascular phenotype
SOS1-related disorder
RASopathy

Criteria Provided
Conflicting Classifications

CA200951

rs_141507912

8 SubmittersRCV000174343 RCV000587965 RCV001813392 RCV002415621 RCV003965071 RCV001089232

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

SNV
Germline

Chr2:39013941

Conflicting classifications of pathogenicity

not specified
Noonan syndrome
Gingival fibromatosis
Cardiovascular phenotype
RASopathy

Criteria Provided
Conflicting Classifications

CA293647

rs_587781172

4 SubmittersRCV000128181 RCV000266750 RCV000324479 RCV003162570 RCV002514700

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

SNV
Germline

Chr2:38986241

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA293651

rs_587781173

4 SubmittersRCV000128189 RCV001141204 RCV001141205 RCV002460045 RCV003539798

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

SNV
Germline

Chr17:31159036

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA164511

rs_373563053

6 SubmittersRCV000129481 RCV000205241 RCV002478386 RCV002453460 RCV001808397

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

SNV
Germline

Chr17:31260464

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, type 1
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA165109

rs_546073780

10 SubmittersRCV000129797 RCV000205307 RCV002326843 RCV003483497 RCV000680997 RCV001818305

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

SNV
Germline

Chr17:31169986

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA165305

rs_199703296

5 SubmittersRCV000129895 RCV001588981 RCV002336284 RCV000546358 RCV002505106

NM_001042492.3(NF1):c.4219A>G (p.Ser1407Gly)

SNV
Germline

Chr17:31258389

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA165427

rs_587781755

9 SubmittersRCV000129962 RCV000233760 RCV000480614 RCV001818308 RCV002483261 RCV003467127 RCV004558325

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

Criteria Provided
Conflicting Classifications

CA165440

rs_201047812

15 SubmittersRCV000129967 RCV000200527 RCV000612512 RCV004558326 RCV001125917 RCV001125918 RCV001125919 RCV001594850

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

SNV
Germline

Chr17:31258377

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA166199

rs_138227618

10 SubmittersRCV000130328 RCV004551254 RCV000680999 RCV001126022 RCV001126024 RCV001824642 RCV002498641 RCV000197840 RCV001126023 RCV002326844

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

SNV
Germline

Chr17:31233109

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA166289

rs_146641724

9 SubmittersRCV000130378 RCV000680625 RCV002453461 RCV000206873 RCV000764108 RCV003330502 RCV004737220

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

SNV
Germline

Chr17:31352319

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA166586

rs_149055633

7 SubmittersRCV000130522 RCV001818315 RCV000421743 RCV000475666 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
not specified
Neurofibromatosis-Noonan syndrome
NF1-related disorder
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Neurofibromatosis, familial spinal
Café-au-lait macules with pulmonary stenosis

Criteria Provided
Conflicting Classifications

CA166728

rs_146315101

9 SubmittersRCV000130596 RCV000430382 RCV001082766 RCV001797634 RCV001128480 RCV004551256 RCV004558333 RCV001128479 RCV001128481

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

SNV
Germline

Chr17:31201140

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA167012

rs_149739570

9 SubmittersRCV002326845 RCV000680982 RCV000708723 RCV000765345 RCV001121969 RCV001121971 RCV000204985 RCV001121970 RCV000845190

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

Criteria Provided
Conflicting Classifications

CA168912

rs_587782592

4 SubmittersRCV000131934 RCV004558339 RCV000470005 RCV002483268

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

SNV
Germline

Chr17:31327743

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA169448

rs_368654378

11 SubmittersRCV000132225 RCV000484858 RCV000168027 RCV001128217 RCV000515448 RCV001128219 RCV001128218 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_033360.4(KRAS):c.347A>G (p.Asn116Ser)

SNV
Germline

Chr12:25225717

Likely pathogenic

Noonan syndrome 1
Condition: not provided

Criteria Provided
Single Submitter

CA270751

rs_202247812

2 SubmittersRCV000144422 RCV004700460

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

SNV
Germline/somatic

Chr11:533874

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA173968

rs_121913233

6 SubmittersRCV000148033 RCV000157918 RCV000662268 RCV001813393 RCV001844808 RCV004796045

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

Chr1:114716127

Pathogenic

Juvenile myelomonocytic leukemia
Noonan syndrome
Condition: not provided
RASopathy
Noonan syndrome and Noonan-related syndrome
Noonan syndrome 6

Criteria Provided
Multiple Submitters
No Conflicts

CA180753

rs_121913250

7 SubmittersRCV000158978 RCV000212761 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
RASopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA183755

rs_727504636

6 SubmittersRCV000155897 RCV000680364 RCV002291573 RCV001857535 RCV002345510

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

12 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
Noonan syndrome
Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome
Condition: not provided
Cardiofaciocutaneous syndrome 1

Reviewed By Expert Panel

CA280060

rs_180177036

7 SubmittersRCV000154481 RCV000824921 RCV000844617 RCV001192586 RCV003317101 RCV004596077

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

SNV
Germline

Chr7:140734763

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA273127

rs_727502904

7 SubmittersRCV000150197 RCV000788373 RCV000824929 RCV001374414 RCV001850036 RCV003224801

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

SNV
Germline

Chr7:140749365

Pathogenic

Cardio-facio-cutaneous syndrome
Inborn genetic diseases
Condition: not provided
RASopathy
Cardiofaciocutaneous syndrome 1
Melanoma
Noonan syndrome 1
Noonan syndrome 7

Criteria Provided
Multiple Submitters
No Conflicts

CA280051

rs_180177042

14 SubmittersRCV000150199 RCV000624589 RCV000157831 RCV000689333 RCV000767527 RCV004798786 RCV000999624 RCV004783752

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
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA180746

rs_121913357

2 SubmittersRCV000154398 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
Cardiovascular phenotype
Noonan syndrome and Noonan-related syndrome
CBL-related disorder

Criteria Provided
Conflicting Classifications

CA181178

rs_143132980

5 SubmittersRCV000154692 RCV000555815 RCV002444637 RCV001813399 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
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
LEOPARD 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

Chr12:112450394

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA180706

rs_121918453

7 SubmittersRCV000154367 RCV000680626 RCV000824740 RCV000995620 RCV001813395

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

SNV
Germline

Chr12:112454636

Pathogenic/Likely pathogenic

Noonan syndrome
Condition: not provided
RASopathy
PTPN11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA273218

rs_727503381

6 SubmittersRCV000151696 RCV000380092 RCV000654965 RCV004734709

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

5 SubmittersRCV000150889 RCV000157936 RCV000212500 RCV001850055

NM_152594.3(SPRED1):c.702C>G (p.Ile234Met)

SNV
Germline

Chr15:38351031

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA178031

rs_138553244

8 SubmittersRCV000151932 RCV001813394 RCV000340177 RCV004992023 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
Noonan syndrome and Noonan-related syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA184327

rs_727504836

5 SubmittersRCV000156178 RCV000465734 RCV001813405 RCV001711316

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

10 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
Noonan syndrome and Noonan-related syndrome
Congenital heart disease
Noonan syndrome
RASopathy
Non-immune hydrops fetalis
RIT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA297161

rs_730881014

18 SubmittersRCV000054406 RCV000159101 RCV000207343 RCV001813414 RCV003483526 RCV001255602 RCV001375970 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
Cardiovascular phenotype
Noonan syndrome 4
Fibromatosis, gingival, 1
RASopathy
Condition: not provided
Fibromatosis, gingival, 1
Noonan syndrome 4

Criteria Provided
Conflicting Classifications

rs_374341202

6 SubmittersRCV000781875 RCV002354393 RCV002484991 RCV001242518 RCV004567180 RCV002467622 RCV002467623

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

SNV
Germline

Chr2:38987571

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA297234

rs_56248239

6 SubmittersRCV002467630 RCV000722119 RCV000587119 RCV000697593 RCV002453553 RCV002467629

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

SNV
Germline

Chr2:38995140

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA297231

rs_572955351

4 SubmittersRCV000159139 RCV002321669 RCV002467628 RCV002516397 RCV002467627

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
Noonan syndrome
RASopathy
Noonan syndrome 4

Criteria Provided
Multiple Submitters
No Conflicts

CA297264

rs_397517150

4 SubmittersRCV000159165 RCV001261079 RCV001379728 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_002880.4(RAF1):c.1879C>T (p.Arg627Trp)

SNV
Germline

Chr3:12584582

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA297136

rs_730881005

5 SubmittersRCV000159090 RCV000241753 RCV001365181 RCV001813413 RCV004764771

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

Criteria Provided
Conflicting Classifications

CA297175

rs_147068827

6 SubmittersRCV000466484 RCV000763645 RCV002262761 RCV002336368 RCV001813417

NM_007373.4(SHOC2):c.519G>A (p.Met173Ile)

SNV
Germline

Chr10:110964877

Pathogenic

RASopathy
Noonan syndrome-like disorder with loose anagen hair 1
not specified
Condition: not provided
Non-immune hydrops fetalis
Cardiovascular phenotype
See cases

Reviewed By Expert Panel

CA199174

rs_730881020

10 SubmittersRCV000523270 RCV000169685 RCV001030821 RCV000586119 RCV001376015 RCV002336369 RCV003156077

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.211T>G (p.Phe71Val)

SNV
Germline

Chr12:112450391

Pathogenic

Condition: not provided
Noonan syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

CA297073

rs_397507512

2 SubmittersRCV000159044 RCV004593995

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
LEOPARD syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
Noonan syndrome 1

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

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA297097

rs_397507539

6 SubmittersRCV000159056 RCV001002766 RCV001261020 RCV001813411 RCV002515083 RCV003764999

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

8 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
Cardiovascular phenotype
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA353883

rs_869025194

15 SubmittersRCV000170492 RCV000207352 RCV000263369 RCV001813420 RCV002453562 RCV001778757

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
Noonan syndrome 8
RASopathy
RIT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA353877

rs_869025194

14 SubmittersRCV000207346 RCV000254958 RCV001813419 RCV001850287 RCV003317110 RCV003927532

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

SNV
Germline

Chr1:155904496

Pathogenic

Noonan syndrome 8
Noonan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA353868

rs_869025194

5 SubmittersRCV000226825 RCV000207338 RCV001731491

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

SNV
Germline

Chr1:155904498

Pathogenic/Likely pathogenic

Noonan syndrome 8
Noonan syndrome
Condition: not provided
not specified
Inborn genetic diseases
Noonan syndrome and Noonan-related syndrome
RASopathy
RIT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA353880

rs_869025193

16 SubmittersRCV000054405 RCV000207350 RCV000255048 RCV000508083 RCV001265779 RCV001813418 RCV001174556 RCV004745234

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

SNV
Somatic

Chr1:155904499

Pathogenic

Noonan syndrome
Neoplasm

No Assertion Criteria Provided

CA353878

rs_869025192

2 SubmittersRCV000207347 RCV004668820

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
RIT1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA353870

rs_869025191

13 SubmittersRCV000207340 RCV000282691 RCV000578238 RCV000856755 RCV003114309 RCV004745233

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

9 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
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
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
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

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

Criteria Provided
Conflicting Classifications

CA192349

rs_768777585

8 SubmittersRCV000165034 RCV001080592 RCV001251350 RCV004552899 RCV001127656 RCV001127657 RCV001127658 RCV000681114

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

Criteria Provided
Multiple Submitters
No Conflicts

CA198406

rs_786203950

24 SubmittersRCV000167474 RCV000468520 RCV000508304 RCV000579282 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
Neurofibromatosis, type 1
10 conditions
Neurofibromatosis, familial spinal
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA188459

rs_140653372

8 SubmittersRCV000163499 RCV000206471 RCV000415075 RCV001124832 RCV001124833 RCV001124834 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

8 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
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
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
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
Condition: not provided
Neurofibromatosis, familial spinal
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis

Criteria Provided
Conflicting Classifications

CA191732

rs_369493270

6 SubmittersRCV000164772 RCV000475700 RCV003224179 RCV004558365 RCV000681003 RCV001027838

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

SNV
Germline

Chr17:31232088

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA191602

rs_786202077

4 SubmittersRCV000164712 RCV000907557 RCV001124941 RCV001124942 RCV001124943

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

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

Criteria Provided
Conflicting Classifications

CA192901

rs_143836226

13 SubmittersRCV000165261 RCV000428670 RCV000515307 RCV001122261 RCV002362857 RCV000205468 RCV001122259 RCV000680330 RCV001122260 RCV004737259

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

SNV
Germline

Chr17:31265253

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA189401

rs_144091165

9 SubmittersRCV000163873 RCV000206001 RCV000266821 RCV000269925 RCV000360964 RCV000604815 RCV000679394

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
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal

Criteria Provided
Conflicting Classifications

CA189791

rs_140994965

11 SubmittersRCV000164013 RCV000679396 RCV000781665 RCV001083508 RCV001126129 RCV001126127 RCV001126128

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

SNV
Germline

Chr17:31327839

Pathogenic

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

Criteria Provided
Conflicting Classifications

CA188125

rs_141077224

11 SubmittersRCV000163376 RCV000611445 RCV000679401 RCV001083474 RCV001122482 RCV001122483 RCV001122484

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

SNV
Germline

Chr17:31330468

Pathogenic

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

Criteria Provided
Conflicting Classifications

CA195752

rs_786203189

4 SubmittersRCV000166393 RCV000330706 RCV000372613 RCV001567747 RCV000275738 RCV000315684

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

SNV
Germline

Chr17:31337841

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA195062

rs_369803831

6 SubmittersRCV000166122 RCV000472540 RCV002505211 RCV002372050 RCV001582655

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

SNV
Germline

Chr17:31338739

Pathogenic

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

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

Criteria Provided
Conflicting Classifications

CA189029

rs_371581213

10 SubmittersRCV000163716 RCV000340759 RCV000353715 RCV000301011 RCV000394144 RCV000616739 RCV002274959 RCV004551407

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

SNV
Germline

Chr17:31349143

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA194028

rs_565708398

9 SubmittersRCV000165705 RCV001548376 RCV000196434 RCV003162703 RCV000515215 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
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis-Noonan syndrome
Neurofibromatosis, familial spinal
Condition: not provided

Criteria Provided
Conflicting Classifications

CA188027

rs_786201310

4 SubmittersRCV000163341 RCV000273660 RCV000314078 RCV000371061 RCV000401489 RCV004808599

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
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

Criteria Provided
Conflicting Classifications

CA191368

rs_757245615

7 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
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Condition: not provided
Neurofibromatosis, type 1
Tibial pseudarthrosis
Neurofibromatosis-Noonan syndrome
Juvenile myelomonocytic leukemia
NF1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA188413

rs_786201367

25 SubmittersRCV000163482 RCV000196216 RCV000515434 RCV000599610 RCV001009586 RCV001808436 RCV003462120 RCV004551398

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

SNV
Germline

Chr17:31374081

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA195946

rs_778233452

5 SubmittersRCV000166465 RCV000632473 RCV002492669 RCV002433719 RCV003488413

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

SNV
Germline

Chr17:31226474

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA334507

rs_768638173

20 SubmittersRCV000168265 RCV000415426 RCV000414746 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
Noonan syndrome and Noonan-related syndrome
RIT1-related disorder
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA1151814

rs_483352822

10 SubmittersRCV000170493 RCV000355969 RCV001813422 RCV003416059 RCV004020021

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

SNV
Germline

Chr2:39013522

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA236034

rs_757094189

4 SubmittersRCV000171288 RCV002515236 RCV002505234

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

SNV
Germline

Chr2:38986057

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA242343

rs_553805862

10 SubmittersRCV000176407 RCV002362896 RCV002467646 RCV001344972 RCV002500487 RCV002467645

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

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA276040

rs_797045139

27 SubmittersRCV000190889 RCV000439869 RCV000999745 RCV001027793 RCV001257603 RCV001775095 RCV002273979 RCV002319460 RCV002503749 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-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA276045

rs_771529172

9 SubmittersRCV000190890 RCV000762992 RCV001589057 RCV002311032

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

SNV
Germline

Chr22:20990476

Likely pathogenic

Noonan syndrome 10
Condition: not provided
Noonan syndrome 10
LZTR1-related schwannomatosis
Fetal cystic hygroma
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis
RASopathy
Noonan syndrome 1
LZTR1-related disorder

Reviewed By Expert Panel

CA358852

rs_869320686

25 SubmittersRCV000191027 RCV000413889 RCV000763072 RCV001526613 RCV002381647 RCV003988835 RCV004576927 RCV004698786 RCV004734846

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

SNV
Germline

Chr22:20991686

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA204980

rs_797045165

11 SubmittersRCV000191028 RCV000658480 RCV000763073 RCV004530087 RCV004796089 RCV002444774

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

9 SubmittersRCV000191030 RCV000224178 RCV000845122 RCV003454490

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

SNV
Germline

Chr14:50182521

Likely pathogenic

Noonan syndrome 9
Condition: not provided
RASopathy

Reviewed By Expert Panel

CA204984

rs_797045167

8 SubmittersRCV000191031 RCV003320592 RCV004732469

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

11 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, familial spinal
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
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
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
not specified
NF1-related disorder

Criteria Provided
Conflicting Classifications

CA339497

rs_748027595

8 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
Noonan syndrome-like disorder with loose anagen hair
Condition: not provided

Criteria Provided
Conflicting Classifications

CA249249

rs_864309599

7 SubmittersRCV000203043 RCV002272173 RCV002273987 RCV002515502 RCV003407717 RCV004701267 RCV004800333

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

SNV
Germline/somatic

Chr1:114716126

Pathogenic/Likely pathogenic

Myelodysplastic syndrome progressed to acute myeloid leukemia
Noonan syndrome and Noonan-related syndrome
Condition: not provided
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA280928

rs_121913237

4 SubmittersRCV000203450 RCV001813426 RCV000380895 RCV001324275

NM_002880.4(RAF1):c.462C>G (p.Ile154Met)

SNV
Germline

Chr3:12608885

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA349068

rs_367732360

4 SubmittersRCV000204876 RCV001144316 RCV001144315 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
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype
NF1-related disorder

Criteria Provided
Conflicting Classifications

CA350599

rs_745407845

7 SubmittersRCV000206576 RCV001545516 RCV002317731 RCV002494519 RCV003313057 RCV004725061

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

Criteria Provided
Conflicting Classifications

CA350500

rs_763082717

8 SubmittersRCV000206473 RCV000571459 RCV002317733 RCV002503803 RCV003237766 RCV004737327

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

SNV
Germline

Chr17:31350215

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
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
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA348018

rs_377662483

8 SubmittersRCV000203720 RCV000571589 RCV000681043 RCV000764115 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
Melanoma

Criteria Provided
Multiple Submitters
No Conflicts

CA354839

rs_869025340

5 SubmittersRCV000207510 RCV001781616 RCV004798811

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

SNV
Germline

Chr1:114716090

Likely pathogenic

Noonan syndrome 1
Condition: not provided
RASopathy

Reviewed By Expert Panel

CA356968

rs_869025573

3 SubmittersRCV000208553 RCV000522652 RCV004732470

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

SNV
Germline

Chr12:112482155

Conflicting classifications of pathogenicity

Noonan syndrome 1
Condition: not provided
RASopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA357176

rs_774356443

4 SubmittersRCV000209886 RCV002261008 RCV001853345 RCV004984747

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

SNV
Germline

Chr1:155910695

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA353413

rs_869312687

6 SubmittersRCV000209835 RCV000521893 RCV000680368 RCV000626786 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

5 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

8 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
Noonan syndrome 1
Cardiofaciocutaneous syndrome 3
Cardiofaciocutaneous syndrome 3

Reviewed By Expert Panel

CA10576999

rs_876657651

5 SubmittersRCV000220187 RCV000844674 RCV000763361 RCV001312196

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

SNV
Germline

Chr17:31261868

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8486455

rs_368649260

5 SubmittersRCV000218790 RCV000310146 RCV000364871 RCV000368229 RCV000398510 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
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

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, familial spinal
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Abnormality of the skin
Neurofibrmatosis type 1
Juvenile myelomonocytic leukemia

Criteria Provided
Multiple Submitters
No Conflicts

CA8485754

rs_778405030

20 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
Condition: not provided
Neurofibromatosis, familial spinal
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10580240

rs_779546178

5 SubmittersRCV000213385 RCV000559747 RCV000681229 RCV001125814 RCV001125813 RCV001125815 RCV002415908

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

Criteria Provided
Conflicting Classifications

CA8485918

rs_759679443

5 SubmittersRCV000220091 RCV000465439 RCV001775692 RCV002415909 RCV002500735

NM_001042492.3(NF1):c.2887C>T (p.Gln963Ter)

SNV
Germline/somatic

Chr17:31229871

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10580267

rs_876660444

10 SubmittersRCV000219051 RCV000660024 RCV003165575 RCV001782711 RCV003332148 RCV004796116

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

SNV
Germline

Chr17:31232178

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
not specified

Criteria Provided
Conflicting Classifications

CA10580279

rs_876659944

6 SubmittersRCV000215735 RCV001125916 RCV000632608 RCV001125914 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
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Condition: not provided
Juvenile myelomonocytic leukemia
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
NF1-related disorder

Criteria Provided
Conflicting Classifications

CA10580306

rs_876660908

7 SubmittersRCV000220527 RCV000531590 RCV002494600 RCV001589161 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, type 1
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
not specified
Hereditary breast ovarian cancer syndrome
Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10580315

rs_876660093

8 SubmittersRCV000222235 RCV000632497 RCV000764112 RCV001731450 RCV001030575 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
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

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

Criteria Provided
Conflicting Classifications

CA10580318

rs_876660162

5 SubmittersRCV000218722 RCV000681188 RCV004558552 RCV000476720 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
not specified
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
NF1-related disorder
Neurofibromatosis-Noonan syndrome

Criteria Provided
Conflicting Classifications

CA8487120

rs_376655102

7 SubmittersRCV000221420 RCV000546921 RCV000681085 RCV003114391 RCV002327095 RCV004547559 RCV003387812

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

SNV
Germline

Chr17:31326144

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8487141

rs_773378630

7 SubmittersRCV000219317 RCV000460990 RCV000780547 RCV001030578 RCV001126130 RCV001126132 RCV000680828 RCV001126131 RCV002338690

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

SNV
Germline

Chr17:31335016

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10580365

rs_876660696

7 SubmittersRCV000215669 RCV001797071 RCV000660089 RCV000763391

NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter)

SNV
Germline

Chr17:31338092

Pathogenic

Hereditary cancer-predisposing syndrome
Neurofibromatosis, type 1
Condition: not provided
Neurofibromatosis, type 1
Tibial pseudarthrosis
Café-au-lait macules with pulmonary stenosis
NF1-related disorder
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
Multiple Submitters
No Conflicts

CA10580388

rs_876658541

24 SubmittersRCV000223234 RCV000461033 RCV000578739 RCV001009581 RCV004798816 RCV004737347 RCV004796112 RCV004992097

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
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Juvenile myelomonocytic leukemia
NF1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA10580413

rs_866445127

26 SubmittersRCV000218957 RCV000457951 RCV000505900 RCV000579098 RCV001836756 RCV002494586 RCV003469003 RCV003595895

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
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
NF1-related disorder

Criteria Provided
Conflicting Classifications

CA8487780

rs_779789452

6 SubmittersRCV000215281 RCV000230134 RCV002494592 RCV003165564 RCV004737350

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

SNV
Germline

Chr10:110964968

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5689600

rs_200015085

5 SubmittersRCV000229898 RCV000479328 RCV000314432 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
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA7470218

rs_768937237

4 SubmittersRCV001505311 RCV001813434 RCV003401189 RCV003165655

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

Criteria Provided
Conflicting Classifications

CA8485485

rs_779727341

11 SubmittersRCV000234251 RCV000564586 RCV000765342 RCV000996514 RCV003491998 RCV002311333 RCV004547596

NM_001042492.3(NF1):c.889-2A>G

SNV
Germline

Chr17:31200420

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10583465

rs_878853922

9 SubmittersRCV000227780 RCV004737358 RCV004796123 RCV001000939 RCV000992436 RCV002315683 RCV003469146

NM_001042492.3(NF1):c.1866T>C (p.Cys622=)

SNV
Germline

Chr17:31225115

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8485875

rs_753245823

4 SubmittersRCV000231851 RCV000561704 RCV001122064 RCV001122063 RCV001122062 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
RASopathy

Reviewed By Expert Panel

CA10586682

rs_886037952

26 SubmittersRCV000257986 RCV000490622 RCV001265940 RCV001251211 RCV001257999 RCV002274002 RCV004732471

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

Likely pathogenic

Noonan syndrome-like disorder with loose anagen hair 2
Condition: not provided
PPP1CB-related disorder

Criteria Provided
Single Submitter

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
Noonan syndrome 5
LEOPARD syndrome 2
Noonan syndrome
RASopathy
Dilated cardiomyopathy 1NN
Noonan syndrome 5
LEOPARD syndrome 2

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

Chr1:114713908

Pathogenic

Condition: not provided
Noonan syndrome 6

Criteria Provided
Single Submitter

CA10602732

rs_11554290

2 SubmittersRCV000291285 RCV003155143

NM_006912.6(RIT1):c.634C>T (p.Arg212Trp)

SNV
Germline

Chr1:155900414

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1151760

rs_563231684

6 SubmittersRCV000373670 RCV001174993 RCV001342293 RCV001813440 RCV002365291

NM_006912.6(RIT1):c.365G>T (p.Arg122Leu)

SNV
Germline

Chr1:155904375

Pathogenic/Likely pathogenic

Condition: not provided
Noonan syndrome and Noonan-related syndrome
Noonan syndrome 8
Megalencephaly-capillary malformation-polymicrogyria syndrome
Noonan syndrome 8

Criteria Provided
Multiple Submitters
No Conflicts

CA10602738

rs_777520196

4 SubmittersRCV000357501 RCV001813444 RCV001037285 RCV002051722

NM_006912.6(RIT1):c.259G>C (p.Asp87His)

SNV
Germline

Chr1:155904481

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10602741

rs_886041414

3 SubmittersRCV000278934 RCV001855060 RCV001813441

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

6 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
Noonan syndrome 4
Cardiovascular phenotype
Fibromatosis, gingival, 1
RASopathy

Criteria Provided
Conflicting Classifications

CA1624439

rs_759584440

4 SubmittersRCV000328656 RCV002467702 RCV002429208 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
CBL-related disorder

Criteria Provided
Conflicting Classifications

CA6318645

rs_143264567

6 SubmittersRCV000361702 RCV001089369 RCV001192739 RCV001813442 RCV004021064 RCV004799203

NM_001042492.3(NF1):c.2446C>T (p.Arg816Ter)

SNV
Germline

Chr17:31229061

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10603442

rs_886041347

20 SubmittersRCV000376782 RCV000497042 RCV000626642 RCV000762986 RCV002311233 RCV003469215

NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu)

SNV
Germline

Chr15:66436777

Pathogenic

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

Reviewed By Expert Panel

CA10603467

rs_727504819

4 SubmittersRCV000763976 RCV000388257 RCV001027695 RCV001250384

NM_005633.4(SOS1):c.3387C>T (p.Gly1129=)

SNV
Germline

Chr2:38989274

Conflicting classifications of pathogenicity

Condition: not provided
RASopathy
Noonan syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1624200

rs_772823827

4 SubmittersRCV000307912 RCV001079080 RCV001775112 RCV002450823

NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)

SNV
Germline

Chr22:20992304

Likely pathogenic

Condition: not provided
Noonan syndrome 2
LZTR1-related schwannomatosis
Noonan syndrome and Noonan-related syndrome
See cases
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Short stature
Noonan syndrome 10
LZTR1-related schwannomatosis
Schwannomatosis
RASopathy
Noonan syndrome 10

Reviewed By Expert Panel

CA10118715

rs_189150283

16 SubmittersRCV000329167 RCV001706423 RCV001799649 RCV001813447 RCV002252087 RCV002429235 RCV000736158 RCV000763074 RCV001193024 RCV004732473 RCV003387519

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
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1624546

rs_758699499

6 SubmittersRCV000589437 RCV001240108 RCV001543366 RCV002467721 RCV002467722 RCV004992164

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

Criteria Provided
Conflicting Classifications

CA10613332

rs_115153488

3 SubmittersRCV000312429 RCV002504135 RCV003422317 RCV000394415

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

Criteria Provided
Conflicting Classifications

CA1624123

rs_371408734

9 SubmittersRCV000345549 RCV000379826 RCV000525329 RCV000764404 RCV001590981 RCV001813466 RCV001175064 RCV001261115 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

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

Criteria Provided
Conflicting Classifications

CA10615222

rs_773935049

3 SubmittersRCV000401021 RCV003409534 RCV002487492 RCV000343552

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

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

Criteria Provided
Conflicting Classifications

CA10617130

rs_886057915

5 SubmittersRCV000359991 RCV000308393 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
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

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
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6486829

rs_779184057

3 SubmittersRCV000334701 RCV002056286 RCV004639207

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, familial spinal
Neurofibromatosis, type 1

Criteria Provided
Conflicting Classifications

CA10648992

rs_886052799

2 SubmittersRCV000289328 RCV000344366 RCV000383785 RCV000394022

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
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

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
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

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

Chr1:114713907

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Conflicting Classifications

CA16042285

rs_121913255

2 SubmittersRCV000414646 RCV001813470

NM_006912.6(RIT1):c.245T>G (p.Phe82Cys)

SNV
Germline

Chr1:155904495

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA16042308

rs_868208063

5 SubmittersRCV000413610 RCV001782888 RCV004701458 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
Fibromatosis, gingival, 1
Noonan syndrome 4
Noonan syndrome 4
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1624097

rs_750296853

5 SubmittersRCV000414348 RCV000465195 RCV001591049 RCV002467768 RCV002488849 RCV002467769 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
RASopathy
SHOC2-related disorder

Criteria Provided
Conflicting Classifications

CA16042684

rs_1057518206

7 SubmittersRCV000413825 RCV001584108 RCV002272224 RCV003539878 RCV003922677

NM_004333.6(BRAF):c.437G>A (p.Arg146Gln)

SNV
Germline

Chr7:140834676

Conflicting classifications of pathogenicity

not specified
RASopathy
Lung carcinoma
Noonan syndrome 1
LEOPARD syndrome 3
Cardiofaciocutaneous syndrome 1
Noonan syndrome 7
Cardiofaciocutaneous syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA4516972

rs_557241012

6 SubmittersRCV000413361 RCV000654945 RCV000764692 RCV001329217 RCV001718803

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_002755.4(MAP2K1):c.370C>T (p.Pro124Ser)

SNV
Germline

Chr15:66436824

Pathogenic

Condition: not provided
Cardiofaciocutaneous syndrome 3
Noonan syndrome
RASopathy

Reviewed By Expert Panel

CA16602456

rs_1057519732

5 SubmittersRCV000482718 RCV000989347 RCV000824936 RCV001250385

NM_004333.6(BRAF):c.1397G>A (p.Gly466Glu)

SNV
Germline

Chr7:140781611

Conflicting classifications of pathogenicity

RASopathy
Noonan syndrome 7

Criteria Provided
Conflicting Classifications

CA16602535

rs_121913351

2 SubmittersRCV001861476 RCV003128083

NM_005343.4(HRAS):c.183G>T (p.Gln61His)

SNV
Germline

Chr11:533873

Likely pathogenic

Noonan syndrome 3

Criteria Provided
Single Submitter

CA16602764

rs_121913496

1 SubmittersRCV000589258

NM_006218.4(PIK3CA):c.1034A>C (p.Asn345Thr)

SNV
Germline

Chr3:179203764

Pathogenic

Noonan syndrome 8
Megalencephaly-capillary malformation-polymicrogyria syndrome

Criteria Provided
Single Submitter

CA16602923

rs_1057519938

1 SubmittersRCV002051723

NM_002880.4(RAF1):c.770C>G (p.Ser257Trp)

SNV
Germline

Chr3:12604200

Conflicting classifications of pathogenicity

RASopathy
Cardiovascular phenotype
Noonan syndrome 5

Criteria Provided
Conflicting Classifications

CA2259699

rs_80338796

3 SubmittersRCV001038630 RCV003168615 RCV004594057

NM_005633.4(SOS1):c.697A>T (p.Asn233Tyr)

SNV
Unknown

Chr2:39054637

Likely pathogenic

Noonan syndrome 4

Criteria Provided
Single Submitter

CA16602968

rs_1057519963

1 SubmittersRCV003322604

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_002880.4(RAF1):c.1871C>G (p.Ser624Cys)

SNV
Germline

Chr3:12584590

Conflicting classifications of pathogenicity

Condition: not provided
RASopathy
Dilated cardiomyopathy 1NN
Noonan syndrome 5
LEOPARD syndrome 2

Criteria Provided
Conflicting Classifications

CA16604447

rs_1057524239

5 SubmittersRCV000678309 RCV001051449 RCV004725217

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

Criteria Provided
Conflicting Classifications

CA8485606

rs_745804540

4 SubmittersRCV000420850 RCV000573159 RCV001124638 RCV001124639 RCV001124640 RCV001080031

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

Condition: not provided
not specified
LEOPARD syndrome 3
Noonan syndrome 7
RASopathy
Cardiovascular phenotype
BRAF-related disorder

Criteria Provided
Conflicting Classifications

CA4516523

rs_142592480

7 SubmittersRCV000475603 RCV000825118 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
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
Neurofibromatosis-Noonan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA8485718

rs_764079291

20 SubmittersRCV000467266 RCV000484297 RCV002393083 RCV002502604 RCV003483615

NM_001042492.3(NF1):c.288+4A>G

SNV
Germline

Chr17:31159097

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA16615554

rs_781459468

7 SubmittersRCV000474467 RCV001550211 RCV004783785

NM_001042492.3(NF1):c.289-6T>C

SNV
Germline

Chr17:31163180

Conflicting classifications of pathogenicity

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

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

Criteria Provided
Conflicting Classifications

CA8487280

rs_754909198

3 SubmittersRCV000471544 RCV001122485 RCV001122486 RCV001122487 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
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8487498

rs_201881479

4 SubmittersRCV000469298 RCV001126343 RCV001126344 RCV001126345 RCV002318545 RCV004597805

NM_001042492.3(NF1):c.7323T>G (p.Ala2441=)

SNV
Germline

Chr17:31350184

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8487558

rs_765750009

4 SubmittersRCV000681206 RCV001084903 RCV001839001 RCV002418439

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.509G>A (p.Arg170Gln)

SNV
Germline

Chr22:20988118

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Noonan syndrome 10
LZTR1-related schwannomatosis
LZTR1-related disorder
Male infertility with azoospermia or oligozoospermia due to single gene mutation

Criteria Provided
Multiple Submitters
No Conflicts

CA10118451

rs_781431741

8 SubmittersRCV000482299 RCV002341137 RCV004722819 RCV001542701 RCV004541521 RCV003991579

NM_006767.4(LZTR1):c.2387T>C (p.Ile796Thr)

SNV
Germline

Chr22:20996947

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome 2
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis

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

Likely pathogenic

Noonan syndrome-like disorder with loose anagen hair 2
RASopathy

Reviewed By Expert Panel

CA346581171

rs_1114167429

2 SubmittersRCV000490624 RCV004732478

NM_001042492.3(NF1):c.662G>A (p.Trp221Ter)

SNV
Germline

Chr17:31181717

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA398989666

rs_1131691126

4 SubmittersRCV001810977 RCV002311251 RCV004796198

NM_001042492.3(NF1):c.1849G>A (p.Ala617Thr)

SNV
Germline

Chr17:31225098

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA399005015

rs_1131691135

5 SubmittersRCV000492708 RCV000686488 RCV002311259 RCV002475971

NM_001042492.3(NF1):c.3198-2A>G

SNV
Germline

Chr17:31232071

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA398988490

rs_1131691089

7 SubmittersRCV000492183 RCV000660029 RCV002489203

NM_001042492.3(NF1):c.4195C>T (p.Gln1399Ter)

SNV
Germline/somatic

Chr17:31258365

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA398997588

rs_1131691072

7 SubmittersRCV000492460 RCV000507218 RCV001290878 RCV002496890 RCV004669008

NM_001042492.3(NF1):c.5311A>G (p.Lys1771Glu)

SNV
Germline

Chr17:31327541

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA399009069

rs_1131691103

5 SubmittersRCV000492200 RCV000632446 RCV000680829 RCV002063855 RCV002341164

NM_001042492.3(NF1):c.6970C>T (p.Gln2324Ter)

SNV
Germline

Chr17:31340553

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA399014940

rs_1131691073

5 SubmittersRCV000492525 RCV000657644 RCV000763394 RCV002275061

NM_001042492.3(NF1):c.503C>G (p.Ser168Ter)

SNV
Germline

Chr17:31169914

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA398984855

rs_1131691994

8 SubmittersRCV000493132 RCV000707168 RCV001009566 RCV004559128 RCV004796205

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_001042492.3(NF1):c.1570G>T (p.Glu524Ter)

SNV
Germline

Chr17:31219047

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA399001902

rs_1135402815

3 SubmittersRCV000497127 RCV002319011 RCV004796207

NM_002880.4(RAF1):c.601A>G (p.Ile201Val)

SNV
Germline

Chr3:12606280

Conflicting classifications of pathogenicity

RASopathy
Condition: not provided
LEOPARD syndrome 2
Noonan syndrome 5
Dilated cardiomyopathy 1NN
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
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis
LZTR1-related disorder

Criteria Provided
Conflicting Classifications

CA10119101

rs_148677674

8 SubmittersRCV000499922 RCV001454598 RCV001584206 RCV002413371 RCV003494569 RCV004535572

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-Noonan syndrome
Neurofibromatosis, type 1
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
Cardiovascular phenotype
Fibromatosis, gingival, 1

Criteria Provided
Conflicting Classifications

CA1624669

rs_758546951

4 SubmittersRCV000511020 RCV001214798 RCV002383990 RCV002467844

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
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

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

Criteria Provided
Conflicting Classifications

CA2259626

rs_555034652

7 SubmittersRCV000549949 RCV000587682 RCV001148651 RCV001148650 RCV001813505 RCV003223656 RCV004984982

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

Noonan syndrome and Noonan-related syndrome
RASopathy

Criteria Provided
Conflicting Classifications

CA4516593

rs_371857758

2 SubmittersRCV001813506 RCV000552800

NM_002834.5(PTPN11):c.167T>C (p.Ile56Thr)

SNV
Germline

Chr12:112450347

Likely pathogenic

RASopathy
Noonan syndrome and Noonan-related syndrome
Juvenile myelomonocytic leukemia
Noonan syndrome 1
Metachondromatosis
LEOPARD syndrome 1

Reviewed By Expert Panel

CA243707917

rs_1052382672

3 SubmittersRCV000531774 RCV000788007 RCV004796235

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

Criteria Provided
Conflicting Classifications

CA8485468

rs_780956522

4 SubmittersRCV000550804 RCV002271524 RCV002490967 RCV003316684

NM_001042492.3(NF1):c.1186-1G>C

SNV
Germline

Chr17:31201410

Pathogenic/Likely pathogenic

Neurofibromatosis, type 1
Condition: not provided
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

CA398997403

rs_876660782

4 SubmittersRCV000542382 RCV002461288 RCV004796231

NM_001042492.3(NF1):c.3447G>T (p.Met1149Ile)

SNV
Germline

Chr17:31232832

Pathogenic/Likely pathogenic

Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, type 1
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
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, type 1
NF1-related disorder

Criteria Provided
Conflicting Classifications

CA8485964

rs_181838967

3 SubmittersRCV000528687 RCV002476107 RCV004737609

NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg)

SNV
Germline

Chr17:31227536

Pathogenic/Likely pathogenic

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA398986497

rs_1060500273

4 SubmittersRCV000538864 RCV002497070 RCV003318586

NM_001042492.3(NF1):c.3374C>T (p.Ala1125Val)

SNV
Germline

Chr17:31232759

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
Hereditary cancer-predisposing syndrome
not specified
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

Criteria Provided
Conflicting Classifications

CA289337975

rs_902739109

8 SubmittersRCV000535878 RCV000563538 RCV001821508 RCV002286748 RCV002314930 RCV002483371

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

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

Criteria Provided
Conflicting Classifications

CA398992568

rs_1264981144

5 SubmittersRCV000547272 RCV002314931 RCV002476108 RCV004722871

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

Criteria Provided
Conflicting Classifications

CA289712495

rs_934837854

7 SubmittersRCV000543184 RCV000679419 RCV002316525 RCV002483373

NM_001042492.3(NF1):c.3371G>A (p.Ser1124Asn)

SNV
Germline

Chr17:31232756

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
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA8486159

rs_374472758

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

Criteria Provided
Conflicting Classifications

CA8487573

rs_752162999

4 SubmittersRCV000548130 RCV002420369 RCV002483372

NM_006494.4(ERF):c.619C>T (p.Arg207Ter)

SNV
Germline

Chr19:42249493

Pathogenic

TWIST1-related craniosynostosis
Inborn genetic diseases
Condition: not provided
Noonan Syndrome-like developmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA406111368

rs_1555750795

4 SubmittersRCV000547799 RCV001265995 RCV003227791 RCV004586794

NM_001042492.3(NF1):c.1392+5G>T

SNV
Germline

Chr17:31206376

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, type 1
Neurofibromatosis, familial spinal
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
NF1-related disorder

Criteria Provided
Conflicting Classifications

CA8485760

rs_199999754

4 SubmittersRCV000567066 RCV001124741 RCV001124742 RCV001124744 RCV001124743 RCV002311898 RCV004553255

NM_001042492.3(NF1):c.2378A>C (p.Asn793Thr)

SNV
Germline

Chr17:31227575

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8485967

rs_772543826

4 SubmittersRCV000691531 RCV001127932 RCV001127933 RCV001127934 RCV002317187 RCV003228960

NM_001042492.3(NF1):c.7780C>T (p.Arg2594Cys)

SNV
Germline

Chr17:31357001

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8487663

rs_372787215

5 SubmittersRCV001040889 RCV002315758 RCV002491121 RCV004777741

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

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
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

CA399001138

rs_1555619391

5 SubmittersRCV000571686 RCV001092509 RCV001219651 RCV002491129

NM_001042492.3(NF1):c.6006G>C (p.Gln2002His)

SNV
Germline

Chr17:31335031

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA399010980

rs_1555534432

4 SubmittersRCV000576617 RCV004796237

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
RASopathy
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

CA6798810

rs_191525506

6 SubmittersRCV000577961 RCV000578115 RCV000578039 RCV001091428 RCV001239106 RCV002404582 RCV002222557

NM_002834.5(PTPN11):c.1599+4C>A

SNV
Germline

Chr12:112489179

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6798812

rs_142606486

4 SubmittersRCV000578031 RCV000577953 RCV000578108 RCV001558688 RCV001860000 RCV003159973

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
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

CA399010982

rs_1555534433

5 SubmittersRCV000578724 RCV000693088 RCV000763392 RCV002350406

NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter)

SNV
Germline

Chr22:20992238

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA10118698

rs_149850248

14 SubmittersRCV000578630 RCV001293930 RCV002358639 RCV004767415 RCV001310194

NM_001042492.3(NF1):c.541C>T (p.Gln181Ter)

SNV
Germline

Chr17:31169952

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA398985168

rs_753529924

9 SubmittersRCV000583592 RCV001007972 RCV002350411 RCV002468589 RCV003465316

NM_005633.4(SOS1):c.755T>C (p.Ile252Thr)

SNV
Germline

Chr2:39051253

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1624725

rs_142094234

7 SubmittersRCV000586619 RCV001813509 RCV001860141 RCV002395507 RCV004788002

NM_005633.4(SOS1):c.638G>A (p.Arg213Gln)

SNV
Germline

Chr2:39054696

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1624754

rs_374761537

5 SubmittersRCV000586137 RCV002532352 RCV002483570 RCV003409858 RCV004992372

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
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA346362449

rs_1293079271

4 SubmittersRCV000587660 RCV001867910 RCV002467909 RCV002467910 RCV004669048

NM_002880.4(RAF1):c.788T>A (p.Val263Asp)

SNV
Germline

Chr3:12604182

Pathogenic/Likely pathogenic

Noonan syndrome 3
Noonan syndrome 5
LEOPARD syndrome 2
Dilated cardiomyopathy 1NN
Condition: not provided
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

CA351512308

rs_397516830

4 SubmittersRCV000586507 RCV000763093 RCV000680804 RCV002530926

NM_030662.4(MAP2K2):c.1176C>T (p.Pro392=)

SNV
Germline

Chr19:4090625

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA9090688

rs_529064753

6 SubmittersRCV000604668 RCV001813513 RCV001706681 RCV001486600 RCV003160002

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
Noonan syndrome and Noonan-related syndrome
RASopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA1624103

rs_760917490

4 SubmittersRCV000616572 RCV001813530 RCV001218007 RCV002358742

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_030662.4(MAP2K2):c.183A>T (p.Lys61Asn)

SNV
Germline

Chr19:4117539

Conflicting classifications of pathogenicity

not specified
Noonan syndrome with multiple lentigines
Noonan syndrome 1
Condition: not provided

Criteria Provided
Conflicting Classifications

CA403392690

rs_886041310

4 SubmittersRCV000603653 RCV000824943 RCV003451363 RCV004722970

NM_002524.5(NRAS):c.432C>T (p.Thr144=)

SNV
Germline

Chr1:114709587

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1020709

rs_753079400

4 SubmittersRCV000603088 RCV001813525 RCV002064335 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
Cardiovascular phenotype
RIT1-related disorder

Criteria Provided
Conflicting Classifications

CA1151908

rs_145034964

5 SubmittersRCV001697491 RCV001860276 RCV001813519 RCV002368057 RCV003420058

NM_002880.4(RAF1):c.600T>C (p.Thr200=)

SNV
Germline

Chr3:12606281

Conflicting classifications of pathogenicity

not specified
LEOPARD syndrome 2
RASopathy
Noonan syndrome 5

Criteria Provided
Conflicting Classifications

CA2259727

rs_779808613

4 SubmittersRCV000616316 RCV001144314 RCV001415257 RCV001144313

NM_002880.4(RAF1):c.231C>T (p.Ser77=)

SNV
Germline

Chr3:12612039

Conflicting classifications of pathogenicity

not specified
Noonan syndrome 5
RASopathy
LEOPARD syndrome 2

Criteria Provided
Conflicting Classifications

CA432277490

rs_1450510914

3 SubmittersRCV000602160 RCV001146204 RCV002529525 RCV001146205

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
Cardiovascular phenotype
RASopathy

Criteria Provided
Conflicting Classifications

CA477374686

rs_1193552867

4 SubmittersRCV000603113 RCV001813521 RCV004024935 RCV003105986

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
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA6798759

rs_753173299

6 SubmittersRCV000603003 RCV000685929 RCV001813522 RCV003392447 RCV003302940

NM_006939.4(SOS2):c.2600A>G (p.Asn867Ser)

SNV
Germline

Chr14:50145237

Conflicting classifications of pathogenicity

Noonan syndrome 9
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA7177004

rs_561495878

4 SubmittersRCV000792762 RCV000610376 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
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
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

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

Criteria Provided
Conflicting Classifications

CA6798550

rs_199498784

5 SubmittersRCV001448239 RCV001712724 RCV001813532 RCV000617336 RCV004782475

NM_006767.4(LZTR1):c.26G>C (p.Gly9Ala)

SNV
Germline

Chr22:20982397

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome 10
not specified
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

CA10118269

rs_756485244

7 SubmittersRCV001055587 RCV002291680 RCV001199922 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
LZTR1-related schwannomatosis
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Noonan syndrome

Criteria Provided
Conflicting Classifications

CA10119150

rs_761685529

9 SubmittersRCV000681140 RCV000735432 RCV003465362 RCV002413779 RCV003336096

NM_006767.4(LZTR1):c.2178C>A (p.Tyr726Ter)

SNV
Germline

Chr22:20996071

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA410779953

rs_1034395178

4 SubmittersRCV000625963 RCV003162767 RCV002533148

NM_005633.4(SOS1):c.1829T>C (p.Ile610Thr)

SNV
Germline

Chr2:39022599

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA1624544

rs_776146535

6 SubmittersRCV000654933 RCV001192789 RCV001141308 RCV001261090 RCV003420153 RCV001141307 RCV003372796

NM_005188.4(CBL):c.1753C>T (p.Arg585Cys)

SNV
Germline

Chr11:119285378

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA6318601

rs_187952822

5 SubmittersRCV000654963 RCV001816651 RCV001813541 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.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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA398989297

rs_1187097568

13 SubmittersRCV000632403 RCV001591409 RCV002060718 RCV002458006 RCV004547783 RCV004764794

NM_001042492.3(NF1):c.2798T>C (p.Leu933Pro)

SNV
Germline

Chr17:31229413

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA398985673

rs_1555614342

7 SubmittersRCV000632333 RCV002307567 RCV002438657 RCV004796258

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

CA399203394

rs_1283946778

5 SubmittersRCV000632368 RCV003313115 RCV002438658 RCV002499044

NM_006270.5(RRAS):c.568G>C (p.Val190Leu)

SNV
Germline

Chr19:49635738

Conflicting classifications of pathogenicity

Noonan syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA9578960

rs_2230917

4 SubmittersRCV000632781 RCV001771853 RCV001251387

NM_006270.5(RRAS):c.409G>A (p.Val137Ile)

SNV
Germline

Chr19:49636663

Conflicting classifications of pathogenicity

Noonan syndrome
not specified

Criteria Provided
Conflicting Classifications

CA9579028

rs_757080959

3 SubmittersRCV000632776 RCV001174918

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
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis
Noonan syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

rs_145594158

7 SubmittersRCV000658061 RCV002406499 RCV001788313 RCV002248854

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
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_766011053

6 SubmittersRCV000659970 RCV001584518 RCV004556064 RCV004993918

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

6 SubmittersRCV000660021 RCV001775145

NM_001042492.3(NF1):c.6704+1G>T

SNV
Germline

Chr17:31337881

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1060500376

9 SubmittersRCV000660100 RCV000710035 RCV001257533 RCV002352076 RCV001565306 RCV003459562

NM_006767.4(LZTR1):c.-38T>A

SNV
Germline

Chr22:20982334

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1459786357

6 SubmittersRCV000754921 RCV002245073 RCV002499144 RCV002360688 RCV002462004 RCV003465433

NM_006767.4(LZTR1):c.1311G>A (p.Trp437Ter)

SNV
Germline

Chr22:20993712

Pathogenic

Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Noonan syndrome 2
Condition: not provided
LZTR1-related schwannomatosis

Criteria Provided
Multiple Submitters
No Conflicts

rs_770933647

4 SubmittersRCV002386139 RCV000754920 RCV001855426 RCV004568485

NM_006767.4(LZTR1):c.1407G>A (p.Trp469Ter)

SNV
Germline

Chr22:20993977

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_777243508

3 SubmittersRCV000754922 RCV001855427 RCV004559339

NM_006912.6(RIT1):c.268A>G (p.Met90Val)

SNV
Germline

Chr1:155904472

Pathogenic

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

Reviewed By Expert Panel

16 SubmittersRCV000681030 RCV000762859 RCV001192383 RCV001261143 RCV001813544

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_002880.4(RAF1):c.1150C>G (p.Pro384Ala)

SNV
Germline

Chr3:12591751

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_140788943

5 SubmittersRCV001813542 RCV004026164 RCV000680666 RCV004594093 RCV000821912

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
Cardiovascular phenotype
SOS2-related disorder
not specified

Criteria Provided
Conflicting Classifications

rs_201874067

7 SubmittersRCV000681418 RCV001058885 RCV003303104 RCV003392518 RCV003987662

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

Pathogenic/Likely pathogenic

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
LZTR1-related schwannomatosis
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1223430276

15 SubmittersRCV000681082 RCV000761304 RCV001813545 RCV002233108 RCV003151134 RCV003991581 RCV004535698 RCV004568578 RCV004993935

NM_006767.4(LZTR1):c.1855C>T (p.Arg619Cys)

SNV
Germline

Chr22:20994939

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis
Noonan syndrome 10
Noonan syndrome 2
Noonan syndrome 10
See cases

Criteria Provided
Conflicting Classifications

rs_373488966

8 SubmittersRCV000681434 RCV002406527 RCV004568579 RCV004788107 RCV004559347 RCV004584403

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
Condition: not provided
Noonan syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1557962794

5 SubmittersRCV000704832 RCV001092173 RCV000856799

NM_005633.4(SOS1):c.2312T>C (p.Ile771Thr)

SNV
Germline

Chr2:39012204

Conflicting classifications of pathogenicity

RASopathy
not specified
Fibromatosis, gingival, 1
Noonan syndrome 4
Cardiovascular phenotype
SOS1-related disorder

Criteria Provided
Conflicting Classifications

rs_557328600

5 SubmittersRCV000703796 RCV001175592 RCV002468022 RCV002468023 RCV002442524 RCV003980317

NM_005633.4(SOS1):c.3836C>T (p.Thr1279Ile)

SNV
Germline

Chr2:38985990

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_758258471

7 SubmittersRCV000693949 RCV001261116 RCV001551716 RCV001813548 RCV002360759 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.780G>T (p.Leu260Phe)

SNV
Germline

Chr14:50182541

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1348457314

2 SubmittersRCV000696464 RCV004993964

NM_006939.4(SOS2):c.721G>A (p.Glu241Lys)

SNV
Germline

Chr14:50182600

Conflicting classifications of pathogenicity

Noonan syndrome 9
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_148747022

3 SubmittersRCV000691771 RCV004768570

NM_002755.4(MAP2K1):c.961C>T (p.Pro321Ser)

SNV
Germline

Chr15:66489215

Conflicting classifications of pathogenicity

RASopathy
Cardiofaciocutaneous syndrome 3
Noonan syndrome 1
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

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

rs_1567849826

4 SubmittersRCV000692799 RCV002477565 RCV002360749

NM_001042492.3(NF1):c.4543C>T (p.Gln1515Ter)

SNV
Germline

Chr17:31260481

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_1567862991

4 SubmittersRCV000691950 RCV000762991

NM_001042492.3(NF1):c.5098C>T (p.Leu1700Phe)

SNV
Germline

Chr17:31326082

Conflicting classifications of pathogenicity

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

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
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Juvenile myelomonocytic leukemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1131691075

3 SubmittersRCV000685073 RCV000762989

NM_004333.6(BRAF):c.1387A>G (p.Ile463Val)

SNV
Germline

Chr7:140781621

Conflicting classifications of pathogenicity

Noonan syndrome 7
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1562957000

2 SubmittersRCV000714710 RCV004812360

NM_006767.4(LZTR1):c.2220-17C>A

SNV
Germline

Chr22:20996679

Likely pathogenic

Noonan syndrome 2
LZTR1-related schwannomatosis

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
LZTR1-related schwannomatosis
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_150419186

12 SubmittersRCV000735431 RCV000760481 RCV001330297 RCV002290002 RCV002360863 RCV004535887

NM_006767.4(LZTR1):c.361C>G (p.His121Asp)

SNV
Germline

Chr22:20987544

Likely pathogenic

Noonan syndrome 2
LZTR1-related schwannomatosis

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

Noonan syndrome 3
Linear nevus sebaceous syndrome
Autoimmune lymphoproliferative syndrome type 4
Acute myeloid leukemia
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

Likely pathogenic

Noonan syndrome
RRAS2-related disorder
Noonan syndrome 12
RASopathy

Reviewed By Expert Panel

rs_782457908

5 SubmittersRCV000852397 RCV003411705 RCV000853183 RCV004760768

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

Criteria Provided
Conflicting Classifications

rs_755770649

4 SubmittersRCV000780745 RCV002267023 RCV001856190 RCV002468035 RCV002468036

NM_004333.6(BRAF):c.995C>T (p.Thr332Ile)

SNV
Germline

Chr7:140794453

Conflicting classifications of pathogenicity

not specified
Noonan syndrome
RASopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1008080053

4 SubmittersRCV000780969 RCV001543118 RCV001856191 RCV004994004

NM_004333.6(BRAF):c.1178-10A>G

SNV
Germline

Chr7:140783167

Conflicting classifications of pathogenicity

not specified
Noonan syndrome and Noonan-related syndrome
RASopathy

Criteria Provided
Conflicting Classifications

rs_527835644

3 SubmittersRCV000780970 RCV001813552 RCV002068540

NM_006767.4(LZTR1):c.2462T>C (p.Ile821Thr)

SNV
Germline

Chr22:20997287

Conflicting classifications of pathogenicity

Noonan syndrome 2
LZTR1-related disorder
Noonan syndrome 1
Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

rs_1275511136

8 SubmittersRCV000787273 RCV004535916 RCV004698789 RCV003133592 RCV004559650 RCV003989603

NM_001085049.3(MRAS):c.68G>T (p.Gly23Val)

SNV
Germline

Chr3:138372951

Likely pathogenic

Noonan syndrome 11
RASopathy

Reviewed By Expert Panel

rs_1576359216

7 SubmittersRCV000787303 RCV003155311

NM_001085049.3(MRAS):c.203C>T (p.Thr68Ile)

SNV
Germline

Chr3:138397333

Likely pathogenic

Condition: not provided
Noonan syndrome 11
RASopathy

Reviewed By Expert Panel

rs_1576387876

5 SubmittersRCV002536888 RCV000787304 RCV004732489

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
See cases

Criteria Provided
Conflicting Classifications

rs_1553356111

3 SubmittersRCV000788276 RCV001813553 RCV004797872

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_033360.4(KRAS):c.189G>C (p.Glu63Asp)

SNV
Germline

Chr12:25227335

Likely pathogenic

Condition: not provided
Noonan syndrome 3

Criteria Provided
Multiple Submitters
No Conflicts

rs_1592808357

2 SubmittersRCV000788738 RCV004789187

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
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_754596127

3 SubmittersRCV000808742 RCV001571706 RCV002332657

NM_005633.4(SOS1):c.3274G>A (p.Ala1092Thr)

SNV
Germline

Chr2:38995195

Conflicting classifications of pathogenicity

RASopathy
Cardiovascular phenotype
Noonan syndrome 4
Fibromatosis, gingival, 1

Criteria Provided
Conflicting Classifications

rs_373948887

3 SubmittersRCV000812771 RCV002325588 RCV002468065 RCV002468064

NM_002880.4(RAF1):c.779C>A (p.Thr260Lys)

SNV
Germline

Chr3:12604191

Pathogenic/Likely pathogenic

Noonan syndrome 5
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

rs_869025501

4 SubmittersRCV001330997 RCV000792062

NM_002834.5(PTPN11):c.1041A>G (p.Gln347=)

SNV
Germline

Chr12:112477964

Conflicting classifications of pathogenicity

RASopathy
Juvenile myelomonocytic leukemia
LEOPARD syndrome 1
Metachondromatosis
Noonan syndrome 1

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

Cardiovascular phenotype
Noonan syndrome 9

Criteria Provided
Conflicting Classifications

rs_761320331

2 SubmittersRCV003166336 RCV000814711

NM_006939.4(SOS2):c.2366T>C (p.Leu789Ser)

SNV
Germline

Chr14:50150026

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Noonan syndrome 9
SOS2-related disorder
not specified

Criteria Provided
Conflicting Classifications

rs_142863840

5 SubmittersRCV004994008 RCV000792384 RCV003965585 RCV003235396

NM_006939.4(SOS2):c.2261G>A (p.Ser754Asn)

SNV
Germline

Chr14:50150131

Conflicting classifications of pathogenicity

Noonan syndrome 9
Noonan syndrome
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_181275468

4 SubmittersRCV000807019 RCV001261124 RCV002282373 RCV004994025

NM_001042492.3(NF1):c.247C>T (p.Gln83Ter)

SNV
Germline

Chr17:31159052

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_746824139

5 SubmittersRCV000796434 RCV001572283 RCV004796316

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

not specified
Noonan syndrome

Criteria Provided
Conflicting Classifications

rs_558985706

3 SubmittersRCV001280656 RCV000796007

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
Noonan syndrome 9
RASopathy
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

8 SubmittersRCV000845124 RCV001250766 RCV001269182 RCV004588303

NM_006767.4(LZTR1):c.510-2A>G

SNV
Germline

Chr22:20988787

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1458682620

3 SubmittersRCV000853390 RCV003679022 RCV004559707

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
RIT1-related disorder
Noonan syndrome 8

Criteria Provided
Multiple Submitters
No Conflicts

rs_1571999498

3 SubmittersRCV000856810 RCV003396492 RCV003581735

NM_005188.4(CBL):c.819G>A (p.Thr273=)

SNV
Germline

Chr11:119274903

Conflicting classifications of pathogenicity

RASopathy
Cardiovascular phenotype
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Conflicting Classifications

rs_750907780

3 SubmittersRCV002064551 RCV002427141 RCV001813555

NM_152594.3(SPRED1):c.306G>A (p.Thr102=)

SNV
Germline

Chr15:38322339

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_372791883

6 SubmittersRCV000868845 RCV001192641 RCV001813558 RCV002442838 RCV004754590

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

Noonan syndrome and Noonan-related syndrome
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_149449207

5 SubmittersRCV001813584 RCV002418859 RCV004538538 RCV001253885

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
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

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
SOS2-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_148595463

5 SubmittersRCV000945752 RCV003925854 RCV002354841

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_006912.6(RIT1):c.430-5T>C

SNV
Germline

Chr1:155900623

Conflicting classifications of pathogenicity

Noonan syndrome 8
not specified

Criteria Provided
Conflicting Classifications

rs_1571991209

2 SubmittersRCV002542252 RCV004782604

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
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis

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.6148-16T>G

SNV
Germline

Chr17:31336619

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_769223408

3 SubmittersRCV001007719 RCV003467580 RCV004796345

NM_001042492.3(NF1):c.1509T>C (p.Asp503=)

SNV
Germline

Chr17:31214567

Conflicting classifications of pathogenicity

Cardiovascular phenotype
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
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1597698493

5 SubmittersRCV002319157 RCV002068845 RCV002497337 RCV004998533

NM_001042492.3(NF1):c.7523A>G (p.Tyr2508Cys)

SNV
Germline

Chr17:31352322

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_762169098

5 SubmittersRCV001347934 RCV002416309 RCV002479221 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
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
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
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1575573204

5 SubmittersRCV001067253 RCV001261033 RCV001192471 RCV002411596 RCV005001149

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
not specified

Criteria Provided
Conflicting Classifications

rs_141214900

4 SubmittersRCV001069163 RCV004030701 RCV004689983

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

Cardiovascular phenotype
Noonan syndrome 9

Criteria Provided
Conflicting Classifications

rs_1391029692

3 SubmittersRCV002416379 RCV001050438

NM_152594.3(SPRED1):c.1001G>A (p.Arg334His)

SNV
Germline

Chr15:38351330

Conflicting classifications of pathogenicity

Legius syndrome
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_146702985

3 SubmittersRCV001066042 RCV001813573 RCV004671206

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_001042492.3(NF1):c.3656G>A (p.Gly1219Glu)

SNV
Germline

Chr17:31233161

Pathogenic/Likely 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_878853885

2 SubmittersRCV001054275 RCV004796359

NM_001042492.3(NF1):c.3892C>T (p.Gln1298Ter)

SNV
Germline

Chr17:31235939

Pathogenic/Likely pathogenic

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

rs_2067193761

6 SubmittersRCV001065757 RCV002365760 RCV003321797 RCV004796362

NM_001042492.3(NF1):c.7970+5G>C

SNV
Germline

Chr17:31357374

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
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

rs_1567627286

3 SubmittersRCV001048526 RCV004559862 RCV004796356

NM_001042492.3(NF1):c.288+1G>A

SNV
Germline

Chr17:31159094

Pathogenic

Neurofibromatosis, type 1
Condition: not provided
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

rs_1567816131

3 SubmittersRCV001070848 RCV004998639 RCV004776448

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

Criteria Provided
Conflicting Classifications

rs_190144445

1 SubmittersRCV001126636 RCV001126637 RCV001126638 RCV001126639

NM_001042492.3(NF1):c.1392+6A>T

SNV
Germline

Chr17:31206377

Conflicting classifications of pathogenicity

Neurofibromatosis-Noonan syndrome
Neurofibromatosis, type 1
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, familial spinal
Hereditary cancer-predisposing syndrome
NF1-related disorder

Criteria Provided
Conflicting Classifications

rs_200798969

4 SubmittersRCV001125730 RCV001125732 RCV001125731 RCV001125733 RCV002259083 RCV004548004

NM_001042492.3(NF1):c.2409+15T>C

SNV
Germline

Chr17:31227621

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_2067039946

2 SubmittersRCV001122166 RCV001122167 RCV001122168 RCV001122169

NM_001042492.3(NF1):c.6643-13T>C

SNV
Germline

Chr17:31337806

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

rs_764601493

3 SubmittersRCV001122578 RCV001122579 RCV001122576 RCV001122577 RCV001561831

NM_001042492.3(NF1):c.7616-15A>C

SNV
Germline

Chr17:31356445

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_952554990

2 SubmittersRCV001123774 RCV001123776 RCV001123773 RCV001123775

NM_005633.4(SOS1):c.*3149C>T

SNV
Germline

Chr2:38982675

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_541644361

3 SubmittersRCV001140017 RCV001140016 RCV003425947 RCV002480522

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

Noonan syndrome 4
Cardiovascular phenotype
Fibromatosis, gingival, 1

Criteria Provided
Conflicting Classifications

rs_1240207005

2 SubmittersRCV001143158 RCV002402513 RCV001143159

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
Cardiovascular phenotype
RASopathy

Criteria Provided
Conflicting Classifications

rs_759843625

3 SubmittersRCV001160827 RCV001160826 RCV004032849 RCV002558526

NM_002745.5(MAPK1):c.953A>G (p.Asp318Gly)

SNV
Germline

Chr22:21772886

Pathogenic

Noonan syndrome 13
Abnormal facial shape
Intellectual disability
Specific learning disability
Heart, malformation of
Atypical behavior
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

Noonan syndrome 13
Abnormal facial shape
Intellectual disability
Specific learning disability
Heart, malformation of
Atypical behavior
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2068716940

4 SubmittersRCV001264764 RCV001261416 RCV004697049

NM_002745.5(MAPK1):c.521C>T (p.Ala174Val)

SNV
Germline

Chr22:21799100

Pathogenic

Noonan syndrome 13
Abnormal facial shape
Specific learning disability
Macrocephaly
Heart, malformation of
Atypical behavior
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

Cardiovascular phenotype
RASopathy
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
LEOPARD syndrome 1

Criteria Provided
Conflicting Classifications

rs_1429492147

3 SubmittersRCV004986969 RCV001222471 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

Cardiovascular phenotype
Noonan syndrome 9

Criteria Provided
Conflicting Classifications

rs_935249167

3 SubmittersRCV002451466 RCV001213784

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
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

rs_200806641

6 SubmittersRCV001203002 RCV001813580 RCV003490116 RCV002339507 RCV003469324

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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2069376973

7 SubmittersRCV001233467 RCV002339643 RCV003483801 RCV004768950

NM_006767.4(LZTR1):c.851G>A (p.Arg284His)

SNV
Germline

Chr22:20991687

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Noonan syndrome 1

Criteria Provided
Conflicting Classifications

rs_768361273

6 SubmittersRCV002222681 RCV001228996 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
Noonan syndrome 4
Noonan syndrome 4
Fibromatosis, gingival, 1

Criteria Provided
Conflicting Classifications

rs_752402979

4 SubmittersRCV001241159 RCV002366065 RCV002484323 RCV002468203 RCV002468202

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_006939.4(SOS2):c.338C>T (p.Ser113Leu)

SNV
Germline

Chr14:50200960

Conflicting classifications of pathogenicity

Noonan syndrome 9
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_751240491

2 SubmittersRCV001243187 RCV004692310

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
LZTR1-related schwannomatosis
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Noonan syndrome 10

Criteria Provided
Conflicting Classifications

rs_372417941

6 SubmittersRCV001243402 RCV001290606 RCV002291738 RCV002402775 RCV002466649

NM_001042492.3(NF1):c.7971-321C>G

SNV
Germline

Chr17:31358159

Pathogenic/Likely pathogenic

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
See cases

Criteria Provided
Multiple Submitters
No Conflicts

rs_2070316606

4 SubmittersRCV001231640 RCV002480758 RCV004699220 RCV004797912

NM_006767.4(LZTR1):c.993+1G>A

SNV
Germline

Chr22:20991830

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_770368435

7 SubmittersRCV001250472 RCV001379899 RCV002379954 RCV004769972 RCV003462828

NM_006939.4(SOS2):c.791C>G (p.Thr264Arg)

SNV
Germline

Chr14:50182530

Pathogenic

Noonan syndrome 9
Noonan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV001250765 RCV001251213

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
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_397507536

4 SubmittersRCV001257612 RCV001879977 RCV002471063 RCV004762028

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
Noonan syndrome 8
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV001261142 RCV001880009 RCV003313201

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

Noonan syndrome
Cardiovascular phenotype
RASopathy

Criteria Provided
Conflicting Classifications

3 SubmittersRCV001261110 RCV004035384 RCV001880003

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
Germline

Chr2:39051203

Conflicting classifications of pathogenicity

Noonan syndrome 4
Noonan syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

3 SubmittersRCV001775163 RCV001261074 RCV004671306

NM_007373.4(SHOC2):c.187G>A (p.Gly63Arg)

SNV
Germline

Chr10:110964545

Conflicting classifications of pathogenicity

Noonan syndrome
RASopathy
Condition: not provided

Criteria Provided
Conflicting Classifications

3 SubmittersRCV001261149 RCV003655332 RCV001587301

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

Noonan syndrome
Proportionate short stature
LEOPARD syndrome 1
Noonan syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV001261107 RCV001779145 RCV002246254 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_006939.4(SOS2):c.13C>G (p.Pro5Ala)

SNV
Germline

Chr14:50231271

Conflicting classifications of pathogenicity

Noonan syndrome
Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

3 SubmittersRCV001261117 RCV001880004 RCV004994379

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

Conflicting classifications of pathogenicity

Noonan syndrome 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1279770165

3 SubmittersRCV001262011 RCV004987013

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
SOS2-related disorder

Criteria Provided
Conflicting Classifications

rs_569343105

5 SubmittersRCV001264556 RCV001365570 RCV004035418 RCV004746300

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_006494.4(ERF):c.697C>T (p.Arg233Ter)

SNV
Germline

Chr19:42249415

Pathogenic

Inborn genetic diseases
Condition: not provided
Craniosynostosis 4
Noonan Syndrome-like developmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_2036401878

4 SubmittersRCV001266260 RCV002254342 RCV004762040 RCV004587095

NM_001042492.3(NF1):c.2991-2A>G

SNV
Germline

Chr17:31230258

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555614495

6 SubmittersRCV001268362 RCV001384294 RCV004796399

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_006767.4(LZTR1):c.2317G>A (p.Val773Met)

SNV
Germline

Chr22:20996793

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_199586863

10 SubmittersRCV001280937 RCV001871623 RCV002447250 RCV003473846 RCV004734090 RCV004789511

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
Fibromatosis, gingival, 1
Noonan syndrome 4
Fibromatosis, gingival, 1
RASopathy

Criteria Provided
Conflicting Classifications

rs_367634525

6 SubmittersRCV001290370 RCV001587319 RCV002418880 RCV002504421 RCV002468214 RCV002538392

NM_006912.6(RIT1):c.368G>A (p.Arg123His)

SNV
Germline

Chr1:155904372

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome 8

Criteria Provided
Conflicting Classifications

rs_977405637

2 SubmittersRCV001558902 RCV001306970

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
Fibromatosis, gingival, 1
Noonan syndrome 4
Fibromatosis, gingival, 1
Noonan syndrome 4
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_371295853

4 SubmittersRCV001326979 RCV002468230 RCV002468231 RCV002493707 RCV002402916

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
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Noonan syndrome 10
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

rs_151000791

5 SubmittersRCV001314421 RCV002418948 RCV002265981 RCV004570744

NM_006767.4(LZTR1):c.2428C>T (p.Arg810Trp)

SNV
Germline

Chr22:20997253

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_776893978

8 SubmittersRCV001320703 RCV002447356 RCV002271641 RCV004545200 RCV003447589 RCV004815363

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
Condition: not provided
RASopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1026930115

4 SubmittersRCV001331722 RCV001558056 RCV001871822 RCV002395732

NM_006767.4(LZTR1):c.58G>A (p.Ala20Thr)

SNV
Germline

Chr22:20982429

Conflicting classifications of pathogenicity

Noonan syndrome 10
Condition: not provided
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1924227635

3 SubmittersRCV001330295 RCV001871810 RCV002357168

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
LZTR1-related schwannomatosis
Noonan syndrome 2
Noonan syndrome 10
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_373591504

5 SubmittersRCV001342538 RCV002222702 RCV003469574 RCV004557552 RCV002341702

NM_001042492.3(NF1):c.4619C>A (p.Ala1540Glu)

SNV
Germline

Chr17:31261752

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_2151466279

3 SubmittersRCV001353299 RCV001751691 RCV004783960

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
Condition: not provided
Noonan syndrome and Noonan-related syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_267606704

3 SubmittersRCV001361524 RCV002462956 RCV001813591

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
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

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
Condition: not provided
Colorectal cancer
Noonan syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_2101742052

6 SubmittersRCV001382057 RCV001813594 RCV002243172 RCV002246364 RCV003151312

NM_001042492.3(NF1):c.731-1G>C

SNV
Germline

Chr17:31182507

Pathogenic

Neurofibromatosis, type 1
Neurofibromatosis-Noonan syndrome
Gastric cancer
Juvenile myelomonocytic leukemia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555608928

4 SubmittersRCV001386020 RCV002463812 RCV003169948 RCV003463010

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.946G>A (p.Val316Met)

SNV
Germline

Chr22:20991782

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_370315661

7 SubmittersRCV001420965 RCV002449141 RCV003154035 RCV004728717 RCV001806178 RCV003470846

NM_006767.4(LZTR1):c.1412G>A (p.Arg471His)

SNV
Germline

Chr22:20993982

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Noonan syndrome 10
Condition: not provided
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

rs_139031749

6 SubmittersRCV001420790 RCV002395958 RCV003444868 RCV001882535 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
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
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
Metachondromatosis
Juvenile myelomonocytic leukemia
Noonan syndrome 1
LEOPARD syndrome 1
RASopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_2135901005

4 SubmittersRCV001557643 RCV002495890 RCV003120628 RCV004656627

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_006767.4(LZTR1):c.2090G>A (p.Arg697Gln)

SNV
Germline

Chr22:20995983

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_370638947

9 SubmittersRCV001573375 RCV001824176 RCV002421210 RCV004587183 RCV004785282

NM_005633.4(SOS1):c.3737A>G (p.Asn1246Ser)

SNV
Germline

Chr2:38986089

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_374110460

4 SubmittersRCV001577043 RCV002570808 RCV002343752 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

Conflicting classifications of pathogenicity

Noonan syndrome 8

Criteria Provided
Conflicting Classifications

rs_2102590945

2 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
Noonan syndrome 10
LZTR1-related disorder
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

rs_143868364

7 SubmittersRCV001768491 RCV003458230 RCV004536285 RCV002425044 RCV003464128

NM_002834.5(PTPN11):c.957C>T (p.Asn319=)

SNV
Germline

Chr12:112477880

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_771407775

5 SubmittersRCV001752628 RCV002386529 RCV002477970 RCV003539405 RCV004699460

NM_005633.4(SOS1):c.1988T>C (p.Ile663Thr)

SNV
Germline

Chr2:39013942

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1048869073

4 SubmittersRCV001754722 RCV001882888 RCV002468302 RCV002468303 RCV002421259

NM_006494.4(ERF):c.652C>T (p.Arg218Ter)

SNV
Germline

Chr19:42249460

Pathogenic/Likely pathogenic

Condition: not provided
TWIST1-related craniosynostosis
Noonan Syndrome-like developmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1425504754

4 SubmittersRCV001767422 RCV001868477 RCV004587206

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 2
Noonan syndrome 10

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

Noonan syndrome 7
RASopathy

Criteria Provided
Multiple Submitters
No Conflicts

rs_2129044284

2 SubmittersRCV002468641 RCV002034598

NM_001042492.3(NF1):c.6819+1G>T

SNV
Germline

Chr17:31338140

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555534964

4 SubmittersRCV001800164 RCV002283558 RCV004720941

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
LZTR1-related schwannomatosis

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
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_571045498

3 SubmittersRCV001813650 RCV002542451 RCV004996017

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
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
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
RASopathy
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_56200325

3 SubmittersRCV001813665 RCV002074233 RCV002422868

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
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1041035741

3 SubmittersRCV001813673 RCV002074234 RCV004996019

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
Cardiovascular phenotype
Fibromatosis, gingival, 1
Noonan syndrome 4

Criteria Provided
Conflicting Classifications

rs_374497013

4 SubmittersRCV001813704 RCV001869622 RCV003299015 RCV002468319 RCV002468320

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
LEOPARD syndrome 1
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
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

Noonan syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_2134048726

3 SubmittersRCV003153250 RCV001837682

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_006912.6(RIT1):c.646G>A (p.Asp216Asn)

SNV
Germline

Chr1:155900402

Conflicting classifications of pathogenicity

Noonan syndrome 8
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_545031201

3 SubmittersRCV001866424 RCV002361095

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.3641A>T (p.Asp1214Val)

SNV
Germline

Chr14:50118702

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_772043913

2 SubmittersRCV001902905 RCV004671507

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

Noonan syndrome 9
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_200104745

3 SubmittersRCV002032246 RCV002352773

NM_005633.4(SOS1):c.1859-3T>C

SNV
Germline

Chr2:39014849

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_199727062

4 SubmittersRCV001947735 RCV002468355 RCV002407073 RCV002468356 RCV004809699

NM_006767.4(LZTR1):c.1943-1G>A

SNV
Germline

Chr22:20995745

Likely pathogenic

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

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_001042492.3(NF1):c.4099T>C (p.Cys1367Arg)

SNV
Germline

Chr17:31249108

Conflicting classifications of pathogenicity

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

rs_2151451647

3 SubmittersRCV001932528 RCV004796672

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
LEOPARD syndrome 1
Metachondromatosis
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
Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
LZTR1-related schwannomatosis
Noonan syndrome 10
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
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, type 1

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
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Condition: not provided
LZTR1-related schwannomatosis
Noonan syndrome 2
Noonan syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_753295968

8 SubmittersRCV002243491 RCV002331528 RCV002037971 RCV003389264 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
Neurofibromatosis, familial spinal
Juvenile myelomonocytic leukemia
Neurofibromatosis-Noonan syndrome
Café-au-lait macules with pulmonary stenosis
Neurofibromatosis, type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_2144005065

3 SubmittersRCV002031899 RCV002498083 RCV004697190

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
Noonan syndrome 2
Schwannomatosis
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1924868328

3 SubmittersRCV001972551 RCV003483868 RCV004558763

NM_001042492.3(NF1):c.6023A>T (p.Asp2008Val)

SNV
Germline

Chr17:31336349

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_2069668717

3 SubmittersRCV001883911 RCV004762215 RCV004796675

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
Fibromatosis, gingival, 1
Noonan syndrome 4
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
SOS2-related disorder

Criteria Provided
Conflicting Classifications

rs_762733592

3 SubmittersRCV001914245 RCV004044057 RCV004746510

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
Cardiovascular phenotype
SOS2-related disorder

Criteria Provided
Conflicting Classifications

rs_767732779

3 SubmittersRCV002112626 RCV004045875 RCV003893313

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
Noonan syndrome 10
LZTR1-related schwannomatosis

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
LZTR1-related disorder
Condition: not provided
LZTR1-related schwannomatosis

Criteria Provided
Conflicting Classifications

rs_970027059

5 SubmittersRCV002249100 RCV002400401 RCV004545265 RCV003738162 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_006912.6(RIT1):c.588A>C (p.Lys196Asn)

SNV
Germline

Chr1:155900460

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Noonan syndrome 8

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002353561 RCV003581845

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

LZTR1-related schwannomatosis
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_002834.5(PTPN11):c.784C>T (p.Leu262Phe)

SNV
Germline

Chr12:112472971

Likely pathogenic

RASopathy
Noonan syndrome 1

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003041175 RCV004786806

NM_006939.4(SOS2):c.1508A>T (p.Glu503Val)

SNV
Germline

Chr14:50159775

Conflicting classifications of pathogenicity

Noonan syndrome 9
Cardiovascular phenotype
not specified

Criteria Provided
Conflicting Classifications

3 SubmittersRCV003050792 RCV004992460 RCV004765646

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.3812C>T (p.Pro1271Leu)

SNV
Germline

Chr14:50118531

Conflicting classifications of pathogenicity

Noonan syndrome 9
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003092552 RCV004775292

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.1499G>C (p.Cys500Ser)

SNV
Germline

Chr14:50159784

Conflicting classifications of pathogenicity

Noonan syndrome 9
SOS2-related disorder
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002655054 RCV004747230 RCV004673828

NM_006767.4(LZTR1):c.200+1G>T

SNV
Germline

Chr22:20982572

Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003104350 RCV003162109 RCV004796777

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.200+1G>C

SNV
Germline

Chr22:20982572

Likely pathogenic

Condition: not provided
LZTR1-related schwannomatosis
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome
Noonan syndrome 10

Criteria Provided
Multiple Submitters
No Conflicts

4 SubmittersRCV002785496 RCV003475419 RCV004990860 RCV004786744

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_001042492.3(NF1):c.1062+2T>A

SNV
Germline

Chr17:31200597

Pathogenic/Likely pathogenic

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

2 SubmittersRCV002880240 RCV004796742

NM_001042492.3(NF1):c.7063-2A>T

SNV
Germline

Chr17:31343007

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

2 SubmittersRCV002900058 RCV004796745

NM_006939.4(SOS2):c.1291G>A (p.Glu431Lys)

SNV
Germline

Chr14:50159992

Pathogenic

Noonan syndrome 9

Criteria Provided
Single Submitter

1 SubmittersRCV002900123

NM_006767.4(LZTR1):c.2220-14T>C

SNV
Germline

Chr22:20996682

Conflicting classifications of pathogenicity

Condition: not provided
Noonan syndrome 10

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002882313 RCV004786764

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_001042492.3(NF1):c.5736T>G (p.Ser1912Arg)

SNV
Germline

Chr17:31330422

Conflicting classifications of pathogenicity

Neurofibromatosis, type 1
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

3 SubmittersRCV003045148 RCV004796756 RCV004725486

NM_006939.4(SOS2):c.1141C>G (p.Leu381Val)

SNV
Germline

Chr14:50161537

Conflicting classifications of pathogenicity

Noonan syndrome 9

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003138585

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
Condition: not provided
RRAS2-related disorder

Criteria Provided
Conflicting Classifications

4 SubmittersRCV003152964 RCV004820289 RCV003395714

NM_006939.4(SOS2):c.3076-19T>C

SNV
Germline

Chr14:50130781

Conflicting classifications of pathogenicity

Noonan syndrome 9
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003779843 RCV003231023

NM_002834.5(PTPN11):c.213T>A (p.Phe71Leu)

SNV
Unknown

Chr12:112450393

Likely pathogenic

LEOPARD syndrome 1
Metachondromatosis
Noonan syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003333582 RCV003333581 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_006767.4(LZTR1):c.1321C>T (p.Gln441Ter)

SNV
Germline

Chr22:20993722

Pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003739813 RCV004587554 RCV004992774

NM_006912.6(RIT1):c.578T>C (p.Met193Thr)

SNV
Germline

Chr1:155900470

Conflicting classifications of pathogenicity

Noonan syndrome 8

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003868304

NM_006912.6(RIT1):c.163+10A>G

SNV
Germline

Chr1:155910440

Conflicting classifications of pathogenicity

Noonan syndrome 8
not specified

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003870657 RCV004801421

NM_002834.5(PTPN11):c.787T>A (p.Tyr263Asn)

SNV
Germline

Chr12:112472974

Likely pathogenic

Metachondromatosis
Noonan syndrome 1
Juvenile myelomonocytic leukemia
LEOPARD syndrome 1

Criteria Provided
Single Submitter

1 SubmittersRCV003883338

NM_006767.4(LZTR1):c.674C>T (p.Pro225Leu)

SNV
Germline

Chr22:20990408

Likely pathogenic

Noonan syndrome 10

Criteria Provided
Single Submitter

1 SubmittersRCV004759366

NM_004985.5(KRAS):c.202A>T (p.Arg68Trp)

SNV
Unknown

Chr12:25227322

Likely pathogenic

Noonan syndrome 3

Criteria Provided
Single Submitter

1 SubmittersRCV004566627

NM_006767.4(LZTR1):c.1785+2T>C

SNV
Germline

Chr22:20994729

Pathogenic/Likely pathogenic

Hereditary cancer-predisposing syndrome
Cardiovascular phenotype
Noonan syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004561004 RCV004796869

NM_002709.3(PPP1CB):c.493G>A (p.Asp165Asn)

SNV
Germline

Chr2:28781815

Likely pathogenic

Noonan syndrome-like disorder with loose anagen hair 2

Criteria Provided
Single Submitter

1 SubmittersRCV004596026

NM_002834.5(PTPN11):c.184T>C (p.Tyr62His)

SNV
Germline

Chr12:112450364

Likely pathogenic

Noonan syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004698371

NM_002524.5(NRAS):c.203G>T (p.Arg68Ile)

SNV
Germline

Chr1:114713887

Conflicting classifications of pathogenicity

Noonan syndrome 6

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004698372

NM_181784.3(SPRED2):c.89G>A (p.Trp30Ter)

SNV
Germline

Chr2:65344834

Likely pathogenic

Noonan syndrome 14

Criteria Provided
Single Submitter

1 SubmittersRCV004764685

NM_002834.5(PTPN11):c.841A>G (p.Asn281Asp)

SNV
Germline

Chr12:112473028

Likely pathogenic

Noonan syndrome 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004784872 RCV005001476

NM_006767.4(LZTR1):c.309C>A (p.Cys103Ter)

SNV
Germline

Chr22:20985886

Likely pathogenic

Noonan syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV004784954

NM_006767.4(LZTR1):c.743G>T (p.Gly248Val)

SNV
Germline

Chr22:20990477

Likely pathogenic

Noonan syndrome 10

Criteria Provided
Single Submitter

1 SubmittersRCV004788347

NM_006767.4(LZTR1):c.494G>A (p.Trp165Ter)

SNV
Germline

Chr22:20988103

Pathogenic

Noonan syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV004788366

NM_005633.4(SOS1):c.806T>A (p.Met269Lys)

SNV
Germline

Chr2:39051202

Likely pathogenic

Noonan syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV004788634

NM_006912.6(RIT1):c.269T>C (p.Met90Thr)

SNV
Germline

Chr1:155904471

Likely pathogenic

Noonan syndrome 8

Criteria Provided
Single Submitter

1 SubmittersRCV004797522

NM_006767.4(LZTR1):c.1150-1G>A

SNV
Germline

Chr22:20992793

Likely pathogenic

Noonan syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV004797572

NM_006767.4(LZTR1):c.855C>A (p.Tyr285Ter)

SNV
Germline

Chr22:20991691

Pathogenic/Likely pathogenic

Noonan syndrome 2
Noonan syndrome 10
LZTR1-related schwannomatosis
Cardiovascular phenotype
Hereditary cancer-predisposing syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004795631 RCV004994475

NM_006767.4(LZTR1):c.2223C>G (p.Tyr741Ter)

SNV
Germline

Chr22:20996699

Likely pathogenic

Noonan syndrome 10

Criteria Provided
Single Submitter

1 SubmittersRCV004798101

NM_005633.4(SOS1):c.1642A>G (p.Ser548Gly)

SNV
Germline

Chr2:39022786

Likely pathogenic

Noonan syndrome 4

Criteria Provided
Single Submitter

1 SubmittersRCV004799093