Total 48 pathogenic variants reported for Myhre syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) SNV
Germline/somatic
Chr18:51065549 Pathogenic/Likely pathogenic Carcinoma of pancreas
Myhre syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Condition: not provided
Juvenile polyposis syndrome
Neoplasm
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Criteria Provided
Multiple Submitters
No Conflicts
CA128097 rs_377767347

7 SubmittersRCV000763030RCV004018654RCV000520995RCV000635423RCV005229823RCV002316201

NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr) SNV
Germline
Chr18:51078307 Pathogenic Myhre syndrome
Condition: not provided
Juvenile polyposis syndrome
SMAD4-related disorder
Criteria Provided
Multiple Submitters
No Conflicts
CA128977 rs_281875321

12 SubmittersRCV000023060RCV000059734RCV001852006RCV005249996

NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) SNV
Germline
Chr18:51078306 Pathogenic Myhre syndrome
Condition: not provided
Carcinoma of pancreas
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Intellectual disability
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Neurodevelopmental delay
Juvenile polyposis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
SMAD4-related disorder
Familial aortopathy
Criteria Provided
Multiple Submitters
No Conflicts
CA128979 rs_281875322

46 SubmittersRCV000023061RCV000059733RCV000763031RCV000635427RCV001260808RCV001249691RCV001375955RCV001376590RCV004558272RCV004820822RCV004745165RCV005417436

NM_005359.6(SMAD4):c.1500A>G (p.Ile500Met) SNV
Germline
Chr18:51078308 Pathogenic Myhre syndrome
Condition: not provided
Juvenile polyposis syndrome
Criteria Provided
Single Submitter
CA128981 rs_281875320

5 SubmittersRCV000023062RCV000059735RCV005089303

NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) SNV
Germline
Chr18:51078381 Conflicting classifications of pathogenicity Condition: not provided
Generalized juvenile polyposis/juvenile polyposis coli
Gastrointestinal polyposis
not specified
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Hereditary cancer-predisposing syndrome
Juvenile polyposis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Criteria Provided
Conflicting Classifications
CA211890 rs_149755320

28 SubmittersRCV000034710RCV000123259RCV000148889RCV000213006RCV000383039RCV000327173RCV000771070RCV001420980RCV001170612RCV002310997

NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) SNV
Germline
Chr18:51078294 Pathogenic/Likely pathogenic Myhre syndrome
Condition: not provided
Generalized juvenile polyposis/juvenile polyposis coli
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Juvenile polyposis syndrome
Myhre syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Carcinoma of pancreas
Juvenile polyposis syndrome
SMAD4-related disorder
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Moyamoya angiopathy
Intellectual disability
Criteria Provided
Multiple Submitters
No Conflicts
CA145285 rs_397518413

29 SubmittersRCV000074360RCV000160962RCV000541839RCV002311544RCV002228175RCV002483120RCV003398656RCV004767058RCV004703205RCV005625264

NM_005359.6(SMAD4):c.424+5G>A SNV
Germline
Chr18:51048865 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Juvenile polyposis syndrome
SMAD4-related disorder
Criteria Provided
Conflicting Classifications
CA288122 rs_200772603

22 SubmittersRCV000115883RCV000213004RCV000204731RCV000306889RCV000346296RCV000656977RCV000770696RCV002311002RCV002228348RCV004745191

NM_005359.6(SMAD4):c.1653A>G (p.Leu551=) SNV
Germline
Chr18:51078461 Conflicting classifications of pathogenicity Generalized juvenile polyposis/juvenile polyposis coli
Myhre syndrome
Juvenile polyposis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Hereditary cancer-predisposing syndrome
SMAD4-related disorder
not specified
Condition: not provided
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Criteria Provided
Conflicting Classifications
CA186803 rs_199526820

11 SubmittersRCV000123261RCV001125527RCV001450073RCV002310679RCV000162721RCV003894971RCV000439984RCV000858658RCV001125528

NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu) SNV
Germline
Chr18:51058128 Conflicting classifications of pathogenicity Juvenile polyposis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Carcinoma of pancreas
Juvenile polyposis syndrome
Myhre syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
SMAD4-related disorder
Criteria Provided
Conflicting Classifications
CA332851 rs_587780793

12 SubmittersRCV001358798RCV002310680RCV002483236RCV003315822RCV000986028RCV003584556RCV005237560RCV003422007

NM_005359.6(SMAD4):c.1140-10T>C SNV
Germline
Chr18:51067009 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Generalized juvenile polyposis/juvenile polyposis coli
Myhre syndrome
Myhre syndrome
Juvenile polyposis syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Carcinoma of pancreas
Criteria Provided
Conflicting Classifications
CA293632 rs_186332162

17 SubmittersRCV000128173RCV000579485RCV000586605RCV001127535RCV001507129RCV002453458RCV001080462RCV001127536RCV002492489

NM_005359.6(SMAD4):c.1106A>G (p.Asn369Ser) SNV
Germline
Chr18:51065573 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Juvenile polyposis syndrome
Isolated thoracic aortic aneurysm
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Carcinoma of pancreas
Juvenile polyposis syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Criteria Provided
Conflicting Classifications
CA167654 rs_139569694

13 SubmittersRCV000131130RCV000555043RCV001374834RCV000679584RCV004525878RCV002311018RCV002478399RCV003474774

NM_005359.6(SMAD4):c.677C>T (p.Ala226Val) SNV
Germline
Chr18:51058134 Conflicting classifications of pathogenicity Generalized juvenile polyposis/juvenile polyposis coli
Condition: not provided
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
SMAD4-related disorder
not specified
Myhre syndrome
Juvenile polyposis syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Familial pancreatic carcinoma
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Carcinoma of pancreas
Myhre syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Criteria Provided
Conflicting Classifications
CA299961 rs_539739051

14 SubmittersRCV000199953RCV000160959RCV000260140RCV000334040RCV002312690RCV004745224RCV004782262RCV005394562RCV001420989RCV000449407RCV000515353RCV003483531

NM_005359.6(SMAD4):c.917A>G (p.Asn306Ser) SNV
Germline
Chr18:51059878 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Juvenile polyposis syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Myhre syndrome
Familial pancreatic carcinoma
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Juvenile polyposis syndrome
Criteria Provided
Conflicting Classifications
CA299964 rs_730881953

10 SubmittersRCV000160960RCV000217266RCV000468723RCV003998531RCV000656978RCV002310721RCV005003508

NM_005359.6(SMAD4):c.20C>T (p.Thr7Met) SNV
Germline
Chr18:51047066 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Myhre syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Carcinoma of pancreas
Condition: not provided
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Juvenile polyposis syndrome
Myhre syndrome
Pulmonary arterial hypertension
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified
SMAD4-related disorder
Myhre syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Familial pancreatic carcinoma
Juvenile polyposis syndrome
Criteria Provided
Conflicting Classifications
CA186263 rs_372316981

16 SubmittersRCV000162438RCV000196213RCV000764159RCV000589285RCV001123230RCV001328507RCV001123231RCV002285148RCV002310723RCV002468936RCV003398830RCV005394569

NM_005359.6(SMAD4):c.21G>A (p.Thr7=) SNV
Germline
Chr18:51047067 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Juvenile polyposis syndrome
not specified
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Condition: not provided
SMAD4-related disorder
Criteria Provided
Conflicting Classifications
CA186871 rs_142292491

17 SubmittersRCV000162750RCV000412290RCV001124331RCV001124332RCV001450081RCV002222413RCV002310727RCV000760073RCV003927534

NM_005359.6(SMAD4):c.535A>G (p.Ile179Val) SNV
Germline
Chr18:51054861 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Myhre syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Carcinoma of pancreas
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Criteria Provided
Conflicting Classifications
CA193193 rs_542392980

12 SubmittersRCV000165366RCV000236451RCV000764161RCV001293445RCV002311026RCV002470782

NM_005359.6(SMAD4):c.852A>G (p.Gln284=) SNV
Germline
Chr18:51058404 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
not specified
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Hereditary hemorrhagic telangiectasia
Generalized juvenile polyposis/juvenile polyposis coli
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA186319 rs_144378484

14 SubmittersRCV000162465RCV000417748RCV000200571RCV001450056RCV001124423RCV001124424RCV003330520RCV000589728RCV002310724

NM_005359.6(SMAD4):c.736C>A (p.Pro246Thr) SNV
Germline
Chr18:51058193 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Heritable Thoracic Aortic Disease
Juvenile polyposis syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Early age onset of sporadic thoracic aortic dissections
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Condition: not provided
Myhre syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
not specified
Criteria Provided
Conflicting Classifications
CA10580980 rs_876659967

9 SubmittersRCV000220373RCV000678043RCV001312210RCV000689822RCV001261774RCV001124420RCV001762494RCV001123336RCV002311325RCV005237752

NM_005359.6(SMAD4):c.342T>C (p.Tyr114=) SNV
Germline
Chr18:51048778 Conflicting classifications of pathogenicity Generalized juvenile polyposis/juvenile polyposis coli
not specified
Myhre syndrome
Hereditary cancer-predisposing syndrome
Juvenile polyposis syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Criteria Provided
Conflicting Classifications
CA8965768 rs_757211048

7 SubmittersRCV000227775RCV000441778RCV001126992RCV000571677RCV001450080RCV001126991RCV002311351

NM_005359.6(SMAD4):c.1644A>G (p.Pro548=) SNV
Germline
Chr18:51078452 Conflicting classifications of pathogenicity Generalized juvenile polyposis/juvenile polyposis coli
Myhre syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Hereditary cancer-predisposing syndrome
not specified
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
SMAD4-related disorder
Criteria Provided
Conflicting Classifications
CA8966112 rs_756795016

10 SubmittersRCV000226180RCV000287385RCV000340035RCV000573053RCV000613346RCV001450069RCV002311349RCV003326381RCV003967648

NM_005359.6(SMAD4):c.667+3G>A SNV
Germline
Chr18:51054996 Conflicting classifications of pathogenicity Myhre syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Juvenile polyposis syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA8965852 rs_757971589

8 SubmittersRCV000263575RCV000358363RCV000571451RCV001328519RCV000635437RCV001711942RCV002314055

NM_005359.6(SMAD4):c.-128+12A>G SNV
Germline
Chr18:51030635 Conflicting classifications of pathogenicity Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Generalized juvenile polyposis/juvenile polyposis coli
not specified
Criteria Provided
Conflicting Classifications
CA10651749 rs_886053891

2 SubmittersRCV000267847RCV000307763RCV000362423RCV000613032

NM_005359.6(SMAD4):c.249+10A>C SNV
Germline
Chr18:51047305 Conflicting classifications of pathogenicity Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
not specified
Juvenile polyposis syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA8965744 rs_752243771

6 SubmittersRCV000295030RCV000389254RCV000427458RCV001450078RCV000409679RCV000771622

NM_005359.6(SMAD4):c.*30A>C SNV
Germline
Chr18:51078497 Conflicting classifications of pathogenicity Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Criteria Provided
Conflicting Classifications
CA8966118 rs_767288576

1 SubmittersRCV000298729RCV000369760RCV000399233

NM_005359.6(SMAD4):c.*1067G>A SNV
Germline
Chr18:51079534 Conflicting classifications of pathogenicity Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Myhre syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA10651763 rs_542839921

2 SubmittersRCV000261227RCV000319786RCV000372257RCV003422294

NM_005359.6(SMAD4):c.155A>T (p.Asp52Val) SNV
Germline
Chr18:51047201 Conflicting classifications of pathogenicity Condition: not provided
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
SMAD4-related disorder
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Carcinoma of pancreas
Juvenile polyposis syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Criteria Provided
Conflicting Classifications
CA16607944 rs_1057524809

7 SubmittersRCV000419383RCV000545492RCV000568719RCV002311755RCV003401439RCV004000594RCV002506083

NM_005359.6(SMAD4):c.876G>A (p.Pro292=) SNV
Germline
Chr18:51058428 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Generalized juvenile polyposis/juvenile polyposis coli
Myhre syndrome
Criteria Provided
Conflicting Classifications
CA8965914 rs_753358186

7 SubmittersRCV000435398RCV000579563RCV001125429RCV001477273RCV002374637RCV001125427RCV001125428

NM_005359.6(SMAD4):c.954T>C (p.Pro318=) SNV
Germline
Chr18:51059915 Conflicting classifications of pathogenicity Condition: not provided
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Familial pancreatic carcinoma
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Juvenile polyposis syndrome
Criteria Provided
Conflicting Classifications
CA8965958 rs_773615487

6 SubmittersRCV000417972RCV002429418RCV001087625RCV001019481RCV004000472RCV005398552

NM_005359.6(SMAD4):c.1492T>C (p.Leu498=) SNV
Germline
Chr18:51078300 Conflicting classifications of pathogenicity not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Myhre syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Juvenile polyposis syndrome
Criteria Provided
Conflicting Classifications
CA16608768 rs_1057520520

12 SubmittersRCV000427335RCV000679586RCV000579788RCV002318979RCV001123416RCV001084748RCV001123417RCV001391325

NM_005359.6(SMAD4):c.1632G>A (p.Pro544=) SNV
Germline
Chr18:51078440 Conflicting classifications of pathogenicity Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Juvenile polyposis syndrome
Myhre syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Criteria Provided
Conflicting Classifications
CA8966110 rs_549489716

10 SubmittersRCV000460479RCV001124520RCV001284065RCV000615584RCV000564724RCV001420984RCV001124521RCV002311780

NM_005359.6(SMAD4):c.181A>G (p.Ile61Val) SNV
Germline
Chr18:51047227 Conflicting classifications of pathogenicity Condition: not provided
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Carcinoma of pancreas
Myhre syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Hereditary cancer-predisposing syndrome
Juvenile polyposis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
not specified
Criteria Provided
Conflicting Classifications
CA16620699 rs_1064794204

7 SubmittersRCV000480772RCV000764160RCV000581125RCV000635474RCV002413323RCV003235240

NM_005359.6(SMAD4):c.1545A>G (p.Arg515=) SNV
Germline
Chr18:51078353 Conflicting classifications of pathogenicity Generalized juvenile polyposis/juvenile polyposis coli
Hereditary cancer-predisposing syndrome
not specified
Myhre syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Juvenile polyposis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Criteria Provided
Conflicting Classifications
CA8966104 rs_760840557

7 SubmittersRCV000530327RCV000581754RCV000604219RCV001123418RCV001123419RCV001391329RCV002314972

NM_005359.6(SMAD4):c.566G>A (p.Arg189His) SNV
Germline
Chr18:51054892 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Carcinoma of pancreas
Myhre syndrome
not specified
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Juvenile polyposis syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Criteria Provided
Conflicting Classifications
CA8965830 rs_759288477

8 SubmittersRCV000579689RCV000764162RCV002268143RCV001584257RCV002319530RCV002231713RCV003999046

NM_005359.6(SMAD4):c.1219G>C (p.Val407Leu) SNV
Germline
Chr18:51067098 Conflicting classifications of pathogenicity Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Carcinoma of pancreas
Myhre syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Criteria Provided
Conflicting Classifications
CA8966026 rs_147621330

10 SubmittersRCV000558005RCV000562603RCV000764164RCV001662542RCV002311850RCV003476248

NM_005359.6(SMAD4):c.1039A>G (p.Ile347Val) SNV
Germline
Chr18:51065506 Conflicting classifications of pathogenicity Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
not specified
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Familial pancreatic carcinoma
Juvenile polyposis syndrome
Myhre syndrome
Criteria Provided
Conflicting Classifications
CA8965978 rs_747360831

8 SubmittersRCV000555938RCV001017112RCV002231351RCV002319529RCV001764550RCV004003803RCV005027632

NM_005359.6(SMAD4):c.298A>C (p.Arg100=) SNV
Germline
Chr18:51048734 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified
Criteria Provided
Conflicting Classifications
CA8965766 rs_751154230

7 SubmittersRCV000568563RCV001126988RCV001126989RCV001126990RCV001479449RCV002311908RCV004701667

NM_005359.6(SMAD4):c.789C>T (p.Asn263=) SNV
Germline
Chr18:51058341 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Criteria Provided
Conflicting Classifications
CA8965907 rs_763510526

6 SubmittersRCV000571444RCV000635500RCV001124421RCV001124422RCV001420983RCV002311920

NM_005359.6(SMAD4):c.1308+2T>C SNV
Germline
Chr18:51067189 Pathogenic Myhre syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Criteria Provided
Single Submitter
CA402465089 rs_1555686624

1 SubmittersRCV000662092RCV000662091RCV000662093

NM_005359.6(SMAD4):c.*1874C>G SNV
Germline
Chr18:51080341 Conflicting classifications of pathogenicity Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Condition: not provided
Criteria Provided
Conflicting Classifications
CA300090533 rs_761701805

2 SubmittersRCV001122225RCV001122226RCV001122227RCV002511046

NM_005359.6(SMAD4):c.*6522C>T SNV
Germline
Chr18:51084989 Conflicting classifications of pathogenicity Generalized juvenile polyposis/juvenile polyposis coli
Myhre syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Condition: not provided
Criteria Provided
Conflicting Classifications
CA300093390 rs_183472455

2 SubmittersRCV001123051RCV001123052RCV001123053RCV002275295

NM_005359.6(SMAD4):c.1447+15C>A SNV
Germline
Chr18:51076791 Conflicting classifications of pathogenicity Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis syndrome
Criteria Provided
Conflicting Classifications
CA402465423 rs_1910484768

2 SubmittersRCV001123415RCV001123414RCV001127539RCV002558220