Total 91 pathogenic variants reported for Metachondromatosis 
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
Noonan syndrome
Condition: not provided
LEOPARD syndrome 1
Noonan syndrome 1
Juvenile myelomonocytic leukemia
LEOPARD syndrome 1
Metachondromatosis
Noonan syndrome 1
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
Criteria Provided
Multiple Submitters
No Conflicts
CA256749 rs_121918453

19 SubmittersRCV000014252RCV000033471RCV000157001RCV000212890RCV000576667RCV000762883RCV001813190RCV005462887

NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) SNV
Germline
Chr12:112450395 Pathogenic/Likely pathogenic Noonan syndrome 1
Condition: not provided
Noonan syndrome
Juvenile myelomonocytic leukemia
LEOPARD syndrome 1
Metachondromatosis
Noonan syndrome 1
RASopathy
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
Criteria Provided
Multiple Submitters
No Conflicts
CA235319 rs_121918454

21 SubmittersRCV000014253RCV000157679RCV000157006RCV000515213RCV000707460RCV001813191RCV002426502

NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) SNV
Germline/somatic
Chr12:112477719 Pathogenic Noonan syndrome 1
RASopathy
Condition: not provided
Noonan syndrome
LEOPARD syndrome 1
Metachondromatosis
Noonan syndrome 1
Juvenile myelomonocytic leukemia
LEOPARD syndrome 1
Noonan syndrome 1
Cardiovascular phenotype
LEOPARD syndrome 1
Metachondromatosis
Noonan syndrome 1
LEOPARD syndrome 1
Hereditary cancer-predisposing syndrome
Noonan syndrome and Noonan-related syndrome
Thrombocytopenia
Abnormal bleeding
Metachondromatosis
Male infertility with azoospermia or oligozoospermia due to single gene mutation
PTPN11-related disorder
Diffuse glioma, H3 G34 mutant
Reviewed By Expert Panel
CA220158 rs_28933386

75 SubmittersRCV000014254RCV000033516RCV000077863RCV000156977RCV000515324RCV000576594RCV000621227RCV000850589RCV001253546RCV001293867RCV001813192RCV001270562RCV003147284RCV003991568RCV004541002RCV006253544

NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) SNV
Germline/somatic
Chr12:112477720 Pathogenic Noonan syndrome 1
RASopathy
Noonan syndrome
Condition: not provided
Noonan syndrome 3
Juvenile myelomonocytic leukemia
LEOPARD syndrome 1
Metachondromatosis
Noonan syndrome 1
LEOPARD syndrome 1
Noonan syndrome 1
LEOPARD syndrome 1
Noonan syndrome and Noonan-related syndrome
PTPN11-related disorder
Neoplasm
Cardiovascular phenotype
Criteria Provided
Multiple Submitters
No Conflicts
CA235328 rs_121918455

43 SubmittersRCV000014255RCV000033518RCV000037669RCV000157682RCV000588570RCV000515421RCV001027696RCV001197417RCV001813193RCV004532339RCV005229787RCV005462888

NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) SNV
Germline
Chr12:112473023 Pathogenic Noonan syndrome with multiple lentigines
RASopathy
Condition: not provided
LEOPARD syndrome 1
CBL-related disorder
Cardiovascular phenotype
LEOPARD syndrome 1
Metachondromatosis
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Noonan syndrome 1
Noonan syndrome
Noonan syndrome with multiple lentigines
not specified
Noonan syndrome and Noonan-related syndrome
PTPN11-related disorder
Reviewed By Expert Panel
CA220149 rs_121918456

34 SubmittersRCV000030620RCV000033504RCV000077859RCV000055890RCV000492270RCV000617951RCV000768062RCV000577894RCV000824744RCV001000775RCV001813194RCV004528108

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
Metachondromatosis
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Noonan syndrome
Juvenile myelomonocytic leukemia
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
PTPN11-related disorder
Reviewed By Expert Panel
CA234749 rs_121918460

28 SubmittersRCV000014257RCV000033466RCV000153794RCV000156993RCV000590972RCV000762882RCV000824739RCV001813195RCV002408460RCV004532340

NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) SNV
Germline
Chr12:112450362 Pathogenic Noonan syndrome 1
RASopathy
Condition: not provided
Short stature
Abnormal cardiovascular system morphology
Noonan syndrome
Juvenile myelomonocytic leukemia
Non-immune hydrops fetalis
LEOPARD syndrome 1
Noonan syndrome and Noonan-related syndrome
LEOPARD syndrome 1
Metachondromatosis
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
PTPN11-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA177665 rs_121918461

24 SubmittersRCV000014258RCV000033464RCV000077856RCV000626829RCV000824738RCV001376030RCV001270166RCV001813196RCV002490363RCV003147285RCV004532341

NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) SNV
Germline
Chr12:112488466 Pathogenic RASopathy
Condition: not provided
LEOPARD syndrome 1
Noonan syndrome 1
Noonan syndrome with multiple lentigines
Noonan syndrome
LEOPARD syndrome 1
Metachondromatosis
Noonan syndrome 1
Juvenile myelomonocytic leukemia
PTPN11-related disorder
Hypertrophic cardiomyopathy
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
Reviewed By Expert Panel
CA220134 rs_121918457

46 SubmittersRCV000033533RCV000077851RCV000055884RCV000106323RCV000208002RCV000157014RCV000515406RCV000723326RCV000853462RCV001813197RCV002390104

NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) SNV
Germline
Chr12:112489080 Pathogenic Noonan syndrome 1
Noonan syndrome
Juvenile myelomonocytic leukemia
Noonan syndrome
Condition: not provided
RASopathy
LEOPARD syndrome 1
Noonan syndrome 1
Metachondromatosis
Juvenile myelomonocytic leukemia
PTPN11-related disorder
Cardiovascular phenotype
Criteria Provided
Multiple Submitters
No Conflicts
CA180739 rs_121918458

14 SubmittersRCV000014260RCV000033543RCV000156995RCV000212897RCV001851849RCV002490364RCV004532342RCV004984639

NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) SNV
Germline/somatic
Chr12:112450368 Pathogenic Noonan syndrome 1
RASopathy
Condition: not provided
Noonan syndrome
LEOPARD syndrome 1
Metachondromatosis
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Noonan syndrome 3
B lymphoblastic leukemia lymphoma, no ICD-O subtype
Lymphoma
LEOPARD syndrome 1
Metachondromatosis
Noonan syndrome 1
Noonan syndrome and Noonan-related syndrome
LEOPARD syndrome 1
PTPN11-related disorder
Metachondromatosis
Hereditary cancer-predisposing syndrome
Pilocytic astrocytoma
Monogenic short stature
Reviewed By Expert Panel
CA220146 rs_121918459

50 SubmittersRCV000014261RCV000033468RCV000077857RCV000157000RCV000515408RCV000588678RCV000722014RCV001249667RCV001813198RCV003137518RCV004528109RCV003147286RCV005251036RCV006253545RCV006629056

NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) SNV
Germline
Chr12:112450398 Pathogenic Noonan syndrome 1
RASopathy
Noonan syndrome
Condition: not provided
Juvenile myelomonocytic leukemia
LEOPARD syndrome 1
Metachondromatosis
Noonan syndrome 1
Noonan syndrome and Noonan-related syndrome
Metachondromatosis
Cardiovascular phenotype
LEOPARD syndrome 1
Vascular disorder
See cases
Intellectual disability
Criteria Provided
Multiple Submitters
No Conflicts
CA256752 rs_121918462

22 SubmittersRCV000014262RCV000033475RCV000156985RCV000212891RCV000515312RCV001813199RCV003147287RCV002415414RCV003147288RCV005624687RCV005887497RCV005624686

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
Metachondromatosis
PTPN11-related disorder
LEOPARD syndrome 1
Pilocytic astrocytoma
Criteria Provided
Multiple Submitters
No Conflicts
CA204408 rs_121918463

30 SubmittersRCV000014263RCV000037663RCV000077862RCV000190417RCV000458650RCV001376066RCV001813200RCV004562207RCV004532343RCV004562208RCV006253546

NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) SNV
Germline
Chr12:112450416 Conflicting classifications of pathogenicity Noonan syndrome 1
Noonan syndrome
RASopathy
Condition: not provided
LEOPARD syndrome 1
Metachondromatosis
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Noonan syndrome 3
Noonan syndrome and Noonan-related syndrome
Cardiovascular phenotype
PTPN11-related disorder
Monogenic short statue
Congenital portosystemic shunt
Criteria Provided
Conflicting Classifications
CA235322 rs_121918466

33 SubmittersRCV000014268RCV000037641RCV000033480RCV000157680RCV000515381RCV000590740RCV001813202RCV002453257RCV004532344RCV005865179RCV006634292

NM_002834.5(PTPN11):c.412C>T (p.Arg138Ter) SNV
Germline
Chr12:112453274 Pathogenic Metachondromatosis
RASopathy
Criteria Provided
Single Submitter
CA123050 rs_267606989

2 SubmittersRCV000014276RCV001205820

NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) SNV
Germline
Chr12:112419116 Pathogenic/Likely pathogenic Noonan syndrome 1
Condition: not provided
Noonan syndrome
RASopathy
Metachondromatosis
Juvenile myelomonocytic leukemia
LEOPARD syndrome 1
Metachondromatosis
Noonan syndrome 1
See cases
LEOPARD syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA256764 rs_267606990

22 SubmittersRCV000014277RCV000033445RCV000211847RCV000694389RCV000988912RCV002496356RCV003156060RCV004795408

NM_002834.5(PTPN11):c.1516C>T (p.Gln506Ter) SNV
Germline
Chr12:112489092 Pathogenic Metachondromatosis
RASopathy
Criteria Provided
Single Submitter
CA129800 rs_387907157

2 SubmittersRCV000024258RCV006461223

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/somatic
Chr12:112446385 Pathogenic Condition: not provided
Noonan syndrome
RASopathy
Noonan syndrome 1
Noonan syndrome and Noonan-related syndrome
LEOPARD syndrome 1
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
Cardiovascular phenotype
PTPN11-related disorder
Diffuse midline glioma, H3 K27M-mutant
Criteria Provided
Multiple Submitters
No Conflicts
CA235307 rs_397507501

21 SubmittersRCV000157675RCV000157002RCV000227194RCV001330777RCV001813241RCV002482941RCV002399352RCV005222713RCV006253714

NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) SNV
Germline
Chr12:112450352 Pathogenic Condition: not provided
Noonan syndrome
RASopathy
Noonan syndrome 1
LEOPARD syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
Noonan syndrome 1
Cardiovascular phenotype
Noonan syndrome and Noonan-related syndrome
LEOPARD syndrome 1
Male infertility with azoospermia or oligozoospermia due to single gene mutation
PTPN11-related disorder
Metachondromatosis
Criteria Provided
Multiple Submitters
No Conflicts
CA261558 rs_397507505

21 SubmittersRCV000033455RCV000037627RCV000234028RCV000768061RCV001283812RCV002408493RCV001813242RCV003333002RCV003991571RCV004532483RCV003333001

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
Juvenile myelomonocytic leukemia
LEOPARD syndrome 1
Noonan syndrome 1
Metachondromatosis
Criteria Provided
Multiple Submitters
No Conflicts
CA235313 rs_397507506

9 SubmittersRCV000037629RCV000157677RCV000587067RCV000556984RCV001358687RCV001813243RCV004795945

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
Metachondromatosis
LEOPARD syndrome 1
Juvenile myelomonocytic leukemia
RASopathy
Criteria Provided
Multiple Submitters
No Conflicts
CA261561 rs_397507506

10 SubmittersRCV000033457RCV000037630RCV000211846RCV000515267RCV000588173

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
LEOPARD syndrome 1
Metachondromatosis
PTPN11-related disorder
See cases
Noonan syndrome 1
Cardiovascular phenotype
Criteria Provided
Multiple Submitters
No Conflicts
CA235370 rs_397507507

12 SubmittersRCV000157700RCV000151684RCV001219186RCV002490444RCV004532484RCV003985264RCV005859477RCV006342082

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
LEOPARD syndrome 1
Metachondromatosis
PTPN11-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA235316 rs_397507510

21 SubmittersRCV000033463RCV000157678RCV000576434RCV000599619RCV001775072RCV001813245RCV002408496RCV003147304RCV003147305RCV003224113RCV004532485

NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) SNV
Germline
Chr12:112450408 Pathogenic RASopathy
Noonan syndrome
Condition: not provided
Noonan syndrome 1
LEOPARD syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
Noonan syndrome and Noonan-related syndrome
Noonan syndrome 1
PTPN11-related disorder
Cardiovascular phenotype
Criteria Provided
Multiple Submitters
No Conflicts
CA261580 rs_397507514

13 SubmittersRCV000033478RCV000037639RCV000254683RCV000762884RCV001813246RCV003150934RCV004734537RCV005462891

NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala) SNV
Germline
Chr12:112450509 Pathogenic/Likely pathogenic Condition: not provided
not specified
RASopathy
Noonan syndrome 1
Metachondromatosis
LEOPARD syndrome 1
Cardiovascular phenotype
Criteria Provided
Multiple Submitters
No Conflicts
CA282085 rs_397507519

9 SubmittersRCV000033485RCV001002539RCV001221785RCV001089572RCV003333003RCV003333004RCV005712125

NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) SNV
Germline
Chr12:112453279 Pathogenic RASopathy
Condition: not provided
Noonan syndrome 1
Noonan syndrome
LEOPARD syndrome 1
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
Cardiovascular phenotype
Noonan syndrome 3
Hypertrophic cardiomyopathy
Noonan syndrome
Juvenile myelomonocytic leukemia
Pectus excavatum
Global developmental delay
Brachycephaly
Microcephaly
Ptosis
Noonan syndrome and Noonan-related syndrome
Metachondromatosis
LEOPARD syndrome 1
PTPN11-related disorder
Reviewed By Expert Panel
CA177671 rs_397507520

43 SubmittersRCV000033491RCV000077858RCV000357736RCV000521568RCV000515221RCV000617179RCV000585988RCV000626830RCV000824741RCV001003604RCV001813249RCV003147306RCV003147307RCV004528153

NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe) SNV
Germline
Chr12:112472968 Pathogenic Noonan syndrome
Condition: not provided
RASopathy
Juvenile myelomonocytic leukemia
LEOPARD syndrome 1
Noonan syndrome 1
Metachondromatosis
Cardiovascular phenotype
Reviewed By Expert Panel
CA235373 rs_397507525

10 SubmittersRCV000037657RCV000157701RCV000522926RCV002496500RCV006342083

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
LEOPARD syndrome 1
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
Cardiovascular phenotype
Monogenic short statue
Reviewed By Expert Panel
CA234739 rs_376607329

43 SubmittersRCV000037658RCV000153788RCV000234910RCV000477501RCV000723292RCV000988915RCV001253554RCV001536068RCV002415447RCV005865201

NM_002834.5(PTPN11):c.802G>T (p.Gly268Cys) SNV
Germline
Chr12:112472989 Pathogenic/Likely pathogenic Condition: not provided
Noonan syndrome
RASopathy
Noonan syndrome 1
LEOPARD syndrome 1
Metachondromatosis
Noonan syndrome with multiple lentigines
PTPN11-related disorder
Cardiovascular phenotype
Monogenic short statue
Criteria Provided
Multiple Submitters
No Conflicts
CA261597 rs_397507527

10 SubmittersRCV000033502RCV000037660RCV000703823RCV001729355RCV003147309RCV003147308RCV004700300RCV004545735RCV004658964RCV005865202

NM_002834.5(PTPN11):c.824A>C (p.Asn275Thr) SNV
Germline
Chr12:112473011 Conflicting classifications of pathogenicity Noonan syndrome 1
Metachondromatosis
LEOPARD syndrome 1
RASopathy
not specified
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA282095 rs_397507528

4 SubmittersRCV001111779RCV001109482RCV001109483RCV001294974RCV001264525RCV003298038

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
Noonan syndrome and Noonan-related syndrome
LEOPARD syndrome 1
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
Noonan syndrome
Cardiovascular phenotype
LEOPARD syndrome 1
Noonan syndrome 1
PTPN11-related disorder
Cleft lip/palate
Criteria Provided
Multiple Submitters
No Conflicts
CA220152 rs_397507529

31 SubmittersRCV000033505RCV000077860RCV000824745RCV001283770RCV001731328RCV001813250RCV002054539RCV002273940RCV002444453RCV003153317RCV003387505RCV005623287

NM_002834.5(PTPN11):c.853T>G (p.Phe285Val) SNV
Germline
Chr12:112473040 Conflicting classifications of pathogenicity LEOPARD syndrome 1
Noonan syndrome 1
Metachondromatosis
Condition: not provided
RASopathy
Juvenile myelomonocytic leukemia
LEOPARD syndrome 1
Noonan syndrome 1
Metachondromatosis
Noonan syndrome 1
PTPN11-related disorder
Criteria Provided
Conflicting Classifications
CA282098 rs_397507531

6 SubmittersRCV001027842RCV002508779RCV003539766RCV003224796RCV004593977RCV004532489

NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) SNV
Germline
Chr12:112473040 Pathogenic Noonan syndrome
Condition: not provided
RASopathy
Noonan syndrome 3
LEOPARD syndrome 1
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
Noonan syndrome 1
LEOPARD syndrome 1
Cardiovascular phenotype
PTPN11-related disorder
Metachondromatosis
Monogenic short statue
Criteria Provided
Multiple Submitters
No Conflicts
CA220155 rs_397507531

22 SubmittersRCV000037662RCV000077861RCV000231840RCV000586058RCV000762885RCV000856809RCV002288529RCV004018710RCV004532490RCV004562222RCV005865203

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
LEOPARD syndrome 1
Metachondromatosis
PTPN11-related disorder
LEOPARD syndrome 1
Noonan syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA261607 rs_121918455

14 SubmittersRCV000033517RCV000037668RCV001193110RCV001813251RCV002287350RCV002371807RCV002482942RCV004532491RCV004795947RCV004668747

NM_002834.5(PTPN11):c.1048T>G (p.Ser350Ala) SNV
Germline
Chr12:112477971 Conflicting classifications of pathogenicity Condition: not provided
Juvenile myelomonocytic leukemia
LEOPARD syndrome 1
Noonan syndrome 1
Metachondromatosis
RASopathy
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA282111 rs_146571700

5 SubmittersRCV000033523RCV000763793RCV003539767RCV004018712

NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr) SNV
Germline
Chr12:112489047 Pathogenic/Likely pathogenic Condition: not provided
Noonan syndrome
Noonan syndrome 1
RASopathy
Noonan syndrome 1
Juvenile myelomonocytic leukemia
LEOPARD syndrome 1
Metachondromatosis
Cardiovascular phenotype
Criteria Provided
Multiple Submitters
No Conflicts
CA261540 rs_397507539

12 SubmittersRCV000033535RCV000208219RCV000660240RCV000694590RCV002490445RCV004018714

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
LEOPARD syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
Criteria Provided
Multiple Submitters
No Conflicts
CA261543 rs_397507539

16 SubmittersRCV000033536RCV000157010RCV000254684RCV000984919RCV001813257RCV004795948

NM_002834.5(PTPN11):c.1472C>A (p.Pro491His) SNV
Germline
Chr12:112489048 Pathogenic/Likely pathogenic Condition: not provided
Noonan syndrome
RASopathy
Strabismus
Short stature
Abnormal facial shape
Noonan syndrome 1
LEOPARD syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
Cardiovascular phenotype
Criteria Provided
Multiple Submitters
No Conflicts
CA261546 rs_397507540

9 SubmittersRCV000033537RCV000037617RCV001378165RCV001730478RCV002490446RCV002390130

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
LEOPARD syndrome 1
Juvenile myelomonocytic leukemia
Noonan syndrome 1
Metachondromatosis
PTPN11-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA273407 rs_397507540

19 SubmittersRCV000033538RCV000156989RCV000254685RCV001002769RCV001335067RCV001813258RCV002504856RCV004532492

NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) SNV
Germline/somatic
Chr12:112489068 Pathogenic/Likely pathogenic RASopathy
LEOPARD syndrome 1
Condition: not provided
Noonan syndrome 1
Noonan syndrome with multiple lentigines
Noonan syndrome
Noonan syndrome and Noonan-related syndrome
Noonan syndrome 1
LEOPARD syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
PTPN11-related disorder
Cardiovascular phenotype
Metachondromatosis
Diffuse midline glioma, H3 K27M-mutant
Criteria Provided
Multiple Submitters
No Conflicts
CA273451 rs_397507541

25 SubmittersRCV000033539RCV000055885RCV000254686RCV000722171RCV000824747RCV001813259RCV002490447RCV004532493RCV004018715RCV004558285RCV006253715

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
LEOPARD syndrome 1
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
Monogenic short statue
Criteria Provided
Multiple Submitters
No Conflicts
CA261549 rs_397507543

16 SubmittersRCV000033541RCV000037618RCV000466382RCV001800333RCV002260947RCV004018716RCV004795949RCV005865204

NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) SNV
Germline
Chr12:112489083 Pathogenic RASopathy
Condition: not provided
Noonan syndrome 1
Juvenile myelomonocytic leukemia
LEOPARD syndrome 1
Metachondromatosis
Noonan syndrome 1
Noonan syndrome
Juvenile myelomonocytic leukemia
Neurodevelopmental disorder
Cardiovascular phenotype
PTPN11-related disorder
Monogenic short statue
Criteria Provided
Multiple Submitters
No Conflicts
CA273459 rs_397507545

21 SubmittersRCV000033545RCV000210040RCV000515165RCV001028095RCV000824750RCV001374913RCV002390131RCV004532494RCV005865205

NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) SNV
Germline
Chr12:112489083 Pathogenic RASopathy
Condition: not provided
Noonan syndrome
Noonan syndrome 1
Cardiovascular phenotype
LEOPARD syndrome 1
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
Noonan syndrome
Juvenile myelomonocytic leukemia
Noonan syndrome and Noonan-related syndrome
Metachondromatosis
LEOPARD syndrome 1
PTPN11-related disorder
Monogenic short statue
Intellectual disability
Criteria Provided
Multiple Submitters
No Conflicts
CA220137 rs_397507545

24 SubmittersRCV000033546RCV000077852RCV000157015RCV000660241RCV000618529RCV000762886RCV000824749RCV001813261RCV003147310RCV003147311RCV004532495RCV005865206RCV005624717

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
LEOPARD syndrome 1
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
Metachondromatosis
Criteria Provided
Multiple Submitters
No Conflicts
CA282132 rs_397507546

11 SubmittersRCV000033548RCV000532971RCV000677651RCV001330778RCV002490448RCV003450655

NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) SNV
Germline
Chr12:112489086 Pathogenic RASopathy
Condition: not provided
Noonan syndrome
Noonan syndrome 1
LEOPARD syndrome 1
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
LEOPARD syndrome 1
Noonan syndrome 1
Metachondromatosis
Cardiovascular phenotype
Male infertility with azoospermia or oligozoospermia due to single gene mutation
PTPN11-related disorder
Reviewed By Expert Panel
CA220140 rs_397507547

36 SubmittersRCV000033549RCV000077853RCV000156983RCV000677652RCV000762887RCV001027841RCV002390132RCV003991572RCV004532496

NM_002834.5(PTPN11):c.1530G>C (p.Gln510His) SNV
Germline/somatic
Chr12:112489106 Pathogenic Condition: not provided
RASopathy
Cardiovascular phenotype
LEOPARD syndrome 1
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
Metachondromatosis
LEOPARD syndrome 1
Noonan syndrome 1
PTPN11-related disorder
Embryonal rhabdomyosarcoma
Reviewed By Expert Panel
CA220143 rs_397507550

14 SubmittersRCV000077854RCV000521890RCV002399355RCV002490449RCV003147313RCV003147314RCV003147312RCV004532497RCV006253718

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
Noonan syndrome 1
LEOPARD syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
Reviewed By Expert Panel
CA261568 rs_397516801

11 SubmittersRCV000037634RCV000206837RCV000405696RCV002464090RCV003313932RCV005007952

NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) SNV
Germline
Chr12:112472989 Pathogenic/Likely pathogenic Noonan syndrome
Condition: not provided
RASopathy
LEOPARD syndrome 1
Noonan syndrome 1
LEOPARD syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
Cardiovascular phenotype
Noonan syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA261594 rs_397507527

13 SubmittersRCV000037659RCV000159050RCV000587886RCV001330780RCV002504894RCV002415470RCV003338391

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 SubmittersRCV000127659RCV000270635RCV000328023RCV000385112RCV004532530

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

4 SubmittersRCV000151687RCV000589756RCV004562307RCV004562306RCV004562308

NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu) SNV
Germline
Chr12:112502226 Conflicting classifications of pathogenicity not specified
Juvenile myelomonocytic leukemia
Metachondromatosis
LEOPARD syndrome 1
Noonan syndrome 1
Condition: not provided
RASopathy
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA180941 rs_141140214

8 SubmittersRCV000154538RCV000515184RCV000680301RCV000690056RCV002399540

NM_002834.5(PTPN11):c.661A>G (p.Ile221Val) SNV
Germline
Chr12:112455968 Conflicting classifications of pathogenicity Condition: not provided
Noonan syndrome 1
Metachondromatosis
Juvenile myelomonocytic leukemia
LEOPARD syndrome 1
RASopathy
Criteria Provided
Conflicting Classifications
CA297082 rs_397516806

4 SubmittersRCV000159048RCV005003506RCV005089786

NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser) SNV
Germline
Chr12:112477690 Conflicting classifications of pathogenicity Condition: not provided
Cardio-facio-cutaneous syndrome
not specified
RASopathy
Cardiovascular phenotype
Noonan syndrome 1
Metachondromatosis
Juvenile myelomonocytic leukemia
LEOPARD syndrome 1
Criteria Provided
Conflicting Classifications
CA297088 rs_572274623

6 SubmittersRCV000159053RCV000208167RCV001844054RCV001850234RCV002372037RCV002492630

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
Juvenile myelomonocytic leukemia
Metachondromatosis
LEOPARD syndrome 1
Noonan syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA297097 rs_397507539

7 SubmittersRCV000159056RCV001002766RCV001261020RCV001813411RCV002515083RCV003764999RCV005008065

NM_002834.5(PTPN11):c.175A>G (p.Thr59Ala) SNV
Germline
Chr12:112450355 Conflicting classifications of pathogenicity Condition: not provided
RASopathy
Cardiovascular phenotype
PTPN11-related disorder
Metachondromatosis
Noonan syndrome 1
Juvenile myelomonocytic leukemia
LEOPARD syndrome 1
Noonan syndrome 1
Criteria Provided
Conflicting Classifications
CA10605950 rs_886043790

7 SubmittersRCV000390743RCV001349385RCV004021238RCV004529475RCV005003613RCV006554514

NM_002834.5(PTPN11):c.853+8T>C SNV
Germline
Chr12:112473048 Conflicting classifications of pathogenicity LEOPARD syndrome 1
Noonan syndrome 1
Metachondromatosis
RASopathy
Criteria Provided
Conflicting Classifications
CA10636512 rs_886048966

2 SubmittersRCV000296099RCV000325441RCV000388132RCV006462407

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 SubmittersRCV000264960RCV000322269RCV000379260RCV003311745

NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser) SNV
Germline
Chr12:112450353 Conflicting classifications of pathogenicity Condition: not provided
RASopathy
not specified
Cardiovascular phenotype
PTPN11-related disorder
Juvenile myelomonocytic leukemia
Metachondromatosis
Noonan syndrome 1
LEOPARD syndrome 1
Noonan syndrome 1
Criteria Provided
Conflicting Classifications
CA6798530 rs_751437780

12 SubmittersRCV000413828RCV000691488RCV000780655RCV002411277RCV004735501RCV005010309RCV006554519

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
Metachondromatosis
Noonan syndrome 1
LEOPARD syndrome 1
Reviewed By Expert Panel
CA243707917 rs_1052382672

3 SubmittersRCV000531774RCV000788007RCV004796235

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
not specified
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA6798810 rs_191525506

6 SubmittersRCV000577961RCV000578115RCV000578039RCV001091428RCV001239106RCV002222557RCV002404582

NM_002834.5(PTPN11):c.1599+4C>A SNV
Germline
Chr12:112489179 Conflicting classifications of pathogenicity LEOPARD syndrome 1
Metachondromatosis
Noonan syndrome 1
Condition: not provided
RASopathy
Cardiovascular phenotype
Metachondromatosis
LEOPARD syndrome 1
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Criteria Provided
Conflicting Classifications
CA6798812 rs_142606486

5 SubmittersRCV000577953RCV000578031RCV000578108RCV001558688RCV001860000RCV003159973RCV005004256

NM_002834.5(PTPN11):c.127C>T (p.Leu43Phe) SNV
Germline
Chr12:112446388 Conflicting classifications of pathogenicity Condition: not provided
RASopathy
not specified
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
LEOPARD syndrome 1
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA386776360 rs_1566164987

5 SubmittersRCV000680807RCV000805888RCV001193111RCV002493124RCV004985065

NM_002834.5(PTPN11):c.1041A>G (p.Gln347=) SNV
Germline
Chr12:112477964 Conflicting classifications of pathogenicity RASopathy
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
LEOPARD syndrome 1
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA6798702 rs_766297596

3 SubmittersRCV000802012RCV002501074RCV005463147

NM_002834.5(PTPN11):c.1282G>T (p.Val428Leu) SNV
Germline
Chr12:112486532 Pathogenic/Likely pathogenic RASopathy
Condition: not provided
Noonan syndrome 1
LEOPARD syndrome 1
Metachondromatosis
Juvenile myelomonocytic leukemia
Noonan syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA386777256 rs_397507536

4 SubmittersRCV001056808RCV001788413RCV003514461RCV005012502

NM_002834.5(PTPN11):c.222G>A (p.Leu74=) SNV
Germline
Chr12:112450402 Conflicting classifications of pathogenicity RASopathy
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
LEOPARD syndrome 1
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA481881801 rs_1429492147

3 SubmittersRCV001222471RCV002491699RCV004986969

NM_002834.5(PTPN11):c.865A>G (p.Arg289Gly) SNV
Germline
Chr12:112477662 Conflicting classifications of pathogenicity Condition: not provided
LEOPARD syndrome 1
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
RASopathy
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA386790475 rs_2135901005

4 SubmittersRCV001557643RCV002495890RCV003120628RCV004656627

NM_002834.5(PTPN11):c.957C>T (p.Asn319=) SNV
Germline
Chr12:112477880 Conflicting classifications of pathogenicity Condition: not provided
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
LEOPARD syndrome 1
Cardiovascular phenotype
RASopathy
not specified
Criteria Provided
Conflicting Classifications
CA6798693 rs_771407775

5 SubmittersRCV001752628RCV002477970RCV002386529RCV003539405RCV004699460

NM_002834.5(PTPN11):c.991C>T (p.Gln331Ter) SNV
Germline
Chr12:112477914 Likely pathogenic Metachondromatosis Criteria Provided
Single Submitter
CA386791313 rs_2135901920

1 SubmittersRCV003128275

NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly) SNV
Germline
Chr12:112450509 Conflicting classifications of pathogenicity not specified
Noonan syndrome 1
Metachondromatosis
Juvenile myelomonocytic leukemia
LEOPARD syndrome 1
PTPN11-related disorder
Criteria Provided
Conflicting Classifications
CA386778512 rs_397507519

3 SubmittersRCV001825135RCV002478072RCV004536350

NM_002834.5(PTPN11):c.691C>T (p.Arg231Ter) SNV
Germline
Chr12:112455998 Pathogenic/Likely pathogenic RASopathy
Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
LEOPARD syndrome 1
Criteria Provided
Multiple Submitters
No Conflicts
CA386784198 rs_2038154558

2 SubmittersRCV001964503RCV002503431

NM_002834.5(PTPN11):c.643-9C>T SNV
Germline
Chr12:112455941 Conflicting classifications of pathogenicity RASopathy
Condition: not provided
Metachondromatosis
Juvenile myelomonocytic leukemia
LEOPARD syndrome 1
Noonan syndrome 1
Criteria Provided
Conflicting Classifications
CA6798613 rs_750520685

3 SubmittersRCV002076260RCV005232865RCV005008471

NM_002834.5(PTPN11):c.853+19C>T SNV
Germline
Chr12:112473059 Conflicting classifications of pathogenicity RASopathy
Juvenile myelomonocytic leukemia
Noonan syndrome 1
Metachondromatosis
LEOPARD syndrome 1
Criteria Provided
Conflicting Classifications
CA243710381 rs_1032100840

2 SubmittersRCV002624098RCV005002969

NM_002834.5(PTPN11):c.213T>A (p.Phe71Leu) SNV
Unknown
Chr12:112450393 Likely pathogenic Metachondromatosis
Noonan syndrome 1
LEOPARD syndrome 1
Criteria Provided
Single Submitter
CA386777846 rs_1555267558

1 SubmittersRCV003333581RCV003333580RCV003333582

NM_002834.5(PTPN11):c.787T>A (p.Tyr263Asn) SNV
Germline
Chr12:112472974 Conflicting classifications of pathogenicity Noonan syndrome 1
Juvenile myelomonocytic leukemia
Metachondromatosis
LEOPARD syndrome 1
Cardiovascular phenotype
Criteria Provided
Conflicting Classifications
CA386788610 rs_2540445590

2 SubmittersRCV003883338RCV006347978

NM_002834.5(PTPN11):c.763C>T (p.Gln255Ter) SNV
Germline
Chr12:112472950 Likely pathogenic Metachondromatosis Criteria Provided
Single Submitter
CA6798645 rs_771672596

1 SubmittersRCV004515745

NM_002834.5(PTPN11):c.2T>G (p.Met1Arg) SNV
Germline
Chr12:112419113 Likely pathogenic Juvenile myelomonocytic leukemia
Noonan syndrome 1
Metachondromatosis
LEOPARD syndrome 1
Criteria Provided
Single Submitter

1 SubmittersRCV005004819

NM_002834.5(PTPN11):c.1168G>T (p.Glu390Ter) SNV
Germline
Chr12:112482149 Likely pathogenic Metachondromatosis Criteria Provided
Single Submitter

1 SubmittersRCV005865055