Total 34 pathogenic variants reported for Cardiofaciocutaneous syndrome 3 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_002755.4(MAP2K1):c.158T>C (p.Phe53Ser) SNV
Germline		 Chr15:66435104 Likely pathogenic Cardiofaciocutaneous syndrome 3
Condition: not provided
Cardio-facio-cutaneous syndrome
RASopathy		 Reviewed By Expert Panel
 CA279966 rs_121908594

4 SubmittersRCV000014278RCV000158002RCV000520164RCV004760331
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) SNV
Germline/somatic		 Chr15:66436843 Pathogenic Cardiofaciocutaneous syndrome 3
Condition: not provided
Cardio-facio-cutaneous syndrome
RASopathy
Noonan syndrome 1
Cardiofaciocutaneous syndrome 3
Melorheostosis
Noonan syndrome 1
Cardiovascular phenotype
Neoplasm
MAP2K1-related disorder
Cardiofaciocutaneous syndrome 1		 Reviewed By Expert Panel
 CA280036 rs_121908595

37 SubmittersRCV000043672RCV000207506RCV000208757RCV000541525RCV000763362RCV001197351RCV003450638RCV004984640RCV005229789RCV004532347RCV005859462
NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val) SNV
Germline		 Chr15:66436837 Pathogenic/Likely pathogenic Cardiofaciocutaneous syndrome 3
Condition: not provided
Cardio-facio-cutaneous syndrome
RASopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA280038 rs_121908596

6 SubmittersRCV000043673RCV000207493RCV000211725RCV001234104
NM_002755.4(MAP2K1):c.371C>A (p.Pro124Gln) SNV
Germline		 Chr15:66436825 Pathogenic Cardiofaciocutaneous syndrome 3 No Assertion Criteria Provided
 CA16602250 rs_397516792

1 SubmittersRCV001078439
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu) SNV
Germline		 Chr15:66436825 Pathogenic/Likely pathogenic Cardio-facio-cutaneous syndrome
Condition: not provided
Cardiofaciocutaneous syndrome 3
Noonan syndrome and Noonan-related syndrome
RASopathy		 Criteria Provided
Multiple Submitters
No Conflicts
 CA279996 rs_397516792

12 SubmittersRCV000037595RCV000680623RCV001542689RCV001813306RCV002513329
NM_002755.4(MAP2K1):c.169A>C (p.Lys57Gln) SNV
Germline		 Chr15:66435115 Likely pathogenic Cardio-facio-cutaneous syndrome
RASopathy
Cardiofaciocutaneous syndrome 3		 Reviewed By Expert Panel
 CA134595 rs_397516790

5 SubmittersRCV000037591RCV000158014RCV006694432
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) SNV
Germline/somatic		 Chr15:66435145 Pathogenic RASopathy
Cardio-facio-cutaneous syndrome
Cardiofaciocutaneous syndrome 3
Condition: not provided
Autism spectrum disorder
Cardio-facio-cutaneous syndrome
Noonan syndrome
MAP2K1-related RASopathy
Cardiovascular phenotype
Cardiofaciocutaneous syndrome 3
Melorheostosis
Cardiofaciocutaneous syndrome 1
Embryonal rhabdomyosarcoma		 Reviewed By Expert Panel
 CA180743 rs_727504317

18 SubmittersRCV000158004RCV000208771RCV000192193RCV000212506RCV000754677RCV000844673RCV001095724RCV002415455RCV003224114RCV004760352RCV006253722
NM_002755.4(MAP2K1):c.124C>T (p.Leu42Phe) SNV
Germline		 Chr15:66435070 Pathogenic Cardio-facio-cutaneous syndrome
Cardiofaciocutaneous syndrome 3
RASopathy		 Reviewed By Expert Panel
 CA279993 rs_397516789

6 SubmittersRCV000037590RCV001787832RCV003539771
NM_002755.4(MAP2K1):c.277G>A (p.Val93Ile) SNV
Germline		 Chr15:66435223 Conflicting classifications of pathogenicity Condition: not provided
RASopathy
Cardiovascular phenotype
Noonan syndrome 1
Melorheostosis
Cardiofaciocutaneous syndrome 3		 Criteria Provided
Conflicting Classifications
 CA296099 rs_151207265

5 SubmittersRCV000680291RCV001857557RCV002433694RCV005394541
NM_002755.4(MAP2K1):c.305A>G (p.Glu102Gly) SNV
Germline		 Chr15:66436759 Pathogenic Cardiofaciocutaneous syndrome 3
RASopathy		 Criteria Provided
Single Submitter
 CA347244 rs_797044593

2 SubmittersRCV000192194RCV001850428
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp) SNV
Germline		 Chr15:66436818 Pathogenic RASopathy
Noonan syndrome 1
Cardiofaciocutaneous syndrome 3
Noonan syndrome
Cardiofaciocutaneous syndrome 3		 Reviewed By Expert Panel
 CA10576999 rs_876657651

5 SubmittersRCV000220187RCV000763361RCV000844674RCV001312196
NM_002755.4(MAP2K1):c.323G>T (p.Arg108Leu) SNV
Germline		 Chr15:66436777 Likely pathogenic Condition: not provided
Cardiofaciocutaneous syndrome 3
Noonan syndrome 1
Cardiofaciocutaneous syndrome 3
RASopathy		 Reviewed By Expert Panel
 CA10603467 rs_727504819

6 SubmittersRCV000388257RCV000763976RCV001027695RCV001250384
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser) SNV
Germline/somatic		 Chr15:66436824 Pathogenic Condition: not provided
Noonan syndrome
Cardiofaciocutaneous syndrome 3
RASopathy
Spitz Melanocytoma
Metastatic melanoma		 Reviewed By Expert Panel
 CA16602456 rs_1057519732

6 SubmittersRCV000482718RCV000824936RCV000989347RCV001250385RCV006253965RCV006253964
NM_002755.4(MAP2K1):c.607G>A (p.Glu203Lys) SNV
Germline		 Chr15:66481793 Likely pathogenic Inborn genetic diseases
Cardiofaciocutaneous syndrome 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16602457 rs_1057519733

2 SubmittersRCV001266169RCV003329162
NM_002755.4(MAP2K1):c.385T>C (p.Phe129Leu) SNV
Germline		 Chr15:66436839 Likely pathogenic Cardiofaciocutaneous syndrome 3 Criteria Provided
Single Submitter
 rs_1057519805

1 SubmittersRCV005252499
NM_002755.4(MAP2K1):c.961C>T (p.Pro321Ser) SNV
Germline		 Chr15:66489215 Conflicting classifications of pathogenicity RASopathy
Cardiofaciocutaneous syndrome 3
Noonan syndrome 1
Condition: not provided
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA7624067 rs_771613524

5 SubmittersRCV000705987RCV000763977RCV001544809RCV002386272
NM_002755.4(MAP2K1):c.388T>A (p.Tyr130Asn) SNV
Germline		 Chr15:66436842 Pathogenic Cardiofaciocutaneous syndrome 3 Criteria Provided
Single Submitter
 CA392930783 rs_397516793

2 SubmittersRCV000787941
NM_002755.4(MAP2K1):c.608A>C (p.Glu203Ala) SNV
Germline		 Chr15:66481794 Pathogenic/Likely pathogenic Noonan syndrome
RASopathy
Cardiofaciocutaneous syndrome 3		 Criteria Provided
Multiple Submitters
No Conflicts
 CA392936203 rs_727503996

3 SubmittersRCV001261061RCV001349797RCV006705487
NM_002755.4(MAP2K1):c.961-10G>C SNV
Germline		 Chr15:66489205 Conflicting classifications of pathogenicity RASopathy
Melorheostosis
Cardiofaciocutaneous syndrome 3		 Criteria Provided
Conflicting Classifications
 CA2499223046 rs_2140682882

2 SubmittersRCV001475448RCV005005938
NM_002755.4(MAP2K1):c.1177G>A (p.Val393Ile) SNV
Germline		 Chr15:66490610 Conflicting classifications of pathogenicity Condition: not provided
RASopathy
Cardiofaciocutaneous syndrome 3
Melorheostosis		 Criteria Provided
Conflicting Classifications
 CA7624175 rs_200442489

3 SubmittersRCV001591958RCV001882719RCV005005263
NM_002755.4(MAP2K1):c.383G>C (p.Gly128Ala) SNV
Germline		 Chr15:66436837 Pathogenic Cardiofaciocutaneous syndrome 3 Criteria Provided
Single Submitter
 CA392930767 rs_121908596

1 SubmittersRCV001724794
NM_002755.4(MAP2K1):c.265C>A (p.Pro89Thr) SNV
Unknown		 Chr15:66435211 Likely pathogenic Cardiofaciocutaneous syndrome 3 Criteria Provided
Single Submitter
 CA392929555 rs_1265809314

1 SubmittersRCV001730035
NM_002755.4(MAP2K1):c.607G>C (p.Glu203Gln) SNV
Unknown		 Chr15:66481793 Pathogenic Cardiofaciocutaneous syndrome 3 Criteria Provided
Single Submitter
 CA392936198 rs_1057519733

1 SubmittersRCV001795582
NM_002755.4(MAP2K1):c.1138G>A (p.Gly380Ser) SNV
Germline		 Chr15:66490571 Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome
RASopathy
Noonan syndrome 1
Melorheostosis
Cardiofaciocutaneous syndrome 3
not specified		 Criteria Provided
Conflicting Classifications
 CA7624170 rs_750934083

4 SubmittersRCV001813670RCV001869616RCV005397026RCV006690993
NM_002755.4(MAP2K1):c.370C>G (p.Pro124Ala) SNV
Unknown		 Chr15:66436824 Likely pathogenic Cardiofaciocutaneous syndrome 3 Criteria Provided
Single Submitter
 CA392930702 rs_1057519732

1 SubmittersRCV002267695
NM_002755.4(MAP2K1):c.767T>C (p.Met256Thr) SNV
Unknown		 Chr15:66485063 Likely pathogenic Cardiofaciocutaneous syndrome 3 Criteria Provided
Single Submitter
 CA392937094 rs_1326401609

1 SubmittersRCV003314431
NM_002755.4(MAP2K1):c.1023-4T>A SNV
Germline		 Chr15:66489714 Conflicting classifications of pathogenicity Cardiofaciocutaneous syndrome 3
RASopathy		 Criteria Provided
Conflicting Classifications
 CA618958632 rs_1462240441

2 SubmittersRCV003457221RCV003655429
NM_002755.4(MAP2K1):c.200A>G (p.Asp67Gly) SNV
Germline		 Chr15:66435146 Likely pathogenic Cardiofaciocutaneous syndrome 3
Melorheostosis		 Criteria Provided
Single Submitter

1 SubmittersRCV005011879
NM_002755.4(MAP2K1):c.528C>T (p.Gly176=) SNV
Germline		 Chr15:66444667 Conflicting classifications of pathogenicity Cardiofaciocutaneous syndrome 3
Melorheostosis
RASopathy		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005003144RCV005061867
NM_002755.4(MAP2K1):c.527G>T (p.Gly176Val) SNV
Germline		 Chr15:66444666 Pathogenic/Likely pathogenic Cardiofaciocutaneous syndrome 3
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005411177RCV006445066
NM_002755.4(MAP2K1):c.154G>C (p.Ala52Pro) SNV
Unknown		 Chr15:66435100 Likely pathogenic Cardiofaciocutaneous syndrome 3 Criteria Provided
Single Submitter

1 SubmittersRCV005865019
NM_002755.4(MAP2K1):c.158T>A (p.Phe53Tyr) SNV
Germline		 Chr15:66435104 Likely pathogenic Cardiofaciocutaneous syndrome 3 Criteria Provided
Single Submitter

1 SubmittersRCV006636450