Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
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.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.412C>T (p.Arg138Ter)	SNV Germline	Chr12:112453274	Pathogenic	Metachondromatosis RASopathy	Criteria Provided Single Submitter	CA123050	rs_267606989	2 SubmittersRCV000014276 RCV001205820
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_002834.5(PTPN11):c.1516C>T (p.Gln506Ter)	SNV Germline	Chr12:112489092	Pathogenic	Metachondromatosis	No Assertion Criteria Provided	CA129800	rs_387907157	1 SubmittersRCV000024258
NM_002834.5(PTPN11):c.643-2A>C	SNV Germline	Chr12:112455948	Pathogenic	Metachondromatosis	No Assertion Criteria Provided	CA129804	rs_398122861	1 SubmittersRCV000024260
NM_002834.5(PTPN11):c.295A>T (p.Lys99Ter)	SNV Germline	Chr12:112450475	Pathogenic	Metachondromatosis	No Assertion Criteria Provided	CA129805	rs_387907158	1 SubmittersRCV000024261
NM_002834.5(PTPN11):c.1093-1G>T	SNV Germline	Chr12:112482073	Pathogenic	Metachondromatosis	No Assertion Criteria Provided	CA129808	rs_398122862	1 SubmittersRCV000024262
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.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.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.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.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>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.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.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.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.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.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.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.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.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.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_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.*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_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.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.*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_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_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_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_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_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_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_002834.5(PTPN11):c.991C>T (p.Gln331Ter)	SNV Germline	Chr12:112477914	Likely pathogenic	Metachondromatosis	Criteria Provided Single Submitter		rs_2135901920	1 SubmittersRCV003128275
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_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_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_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_002834.5(PTPN11):c.763C>T (p.Gln255Ter)	SNV Germline	Chr12:112472950	Likely pathogenic	Metachondromatosis	Criteria Provided Single Submitter			1 SubmittersRCV004515745

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.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.412C>T (p.Arg138Ter)

SNV
Germline

Chr12:112453274

Pathogenic

Metachondromatosis
RASopathy

Criteria Provided
Single Submitter

CA123050

rs_267606989

2 SubmittersRCV000014276 RCV001205820

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_002834.5(PTPN11):c.1516C>T (p.Gln506Ter)

SNV
Germline

Chr12:112489092

Pathogenic

Metachondromatosis

No Assertion Criteria Provided

CA129800

rs_387907157

1 SubmittersRCV000024258

NM_002834.5(PTPN11):c.643-2A>C

SNV
Germline

Chr12:112455948

Pathogenic

Metachondromatosis

No Assertion Criteria Provided

CA129804

rs_398122861

1 SubmittersRCV000024260

NM_002834.5(PTPN11):c.295A>T (p.Lys99Ter)

SNV
Germline

Chr12:112450475

Pathogenic

Metachondromatosis

No Assertion Criteria Provided

CA129805

rs_387907158

1 SubmittersRCV000024261

NM_002834.5(PTPN11):c.1093-1G>T

SNV
Germline

Chr12:112482073

Pathogenic

Metachondromatosis

No Assertion Criteria Provided

CA129808

rs_398122862

1 SubmittersRCV000024262

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.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.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.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.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>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.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.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.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.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.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.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.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.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.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_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.*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_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.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.*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_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_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_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_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_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_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_002834.5(PTPN11):c.991C>T (p.Gln331Ter)

SNV
Germline

Chr12:112477914

Likely pathogenic

Metachondromatosis

Criteria Provided
Single Submitter

rs_2135901920

1 SubmittersRCV003128275

NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly)