Sugi Variant

Sugi Variant/SMAD4

SMAD4 — 2384 ClinVar variants

All ClinVar germline SMAD4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 897 flagged for review →

199 Pathogenic · 25 Pathogenic/Likely pathogenic · 55 Likely pathogenic · 157 Conflicting · 85 Benign · 241 Benign/Likely benign · 515 Likely benign · 1107 Uncertain significance

Full SMAD4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 897

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 64

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predicted LoF vs a conflicting call 7

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 683

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 683

Predictors split 143

The independent predictors disagree with each other — read with care.

All SMAD4 variants

Pathogenic 199

  • c.1140-1G>A Multiple submitters hereditary neoplastic syndrome
  • c.1447+2T>C Multiple submitters juvenile polyposis syndrome
  • p.Ala421fs Multiple submitters juvenile polyposis syndrome
  • p.Arg135Ter Multiple submitters hereditary neoplastic syndrome
  • p.Arg378fs Multiple submitters juvenile polyposis syndrome
  • p.Arg380fs Multiple submitters juvenile polyposis syndrome
  • p.Arg445Ter Multiple submitters juvenile polyposis syndrome
  • p.Asn207fs Multiple submitters juvenile polyposis syndrome
  • p.Asn251fs Multiple submitters hereditary neoplastic syndrome
  • p.Asp415Glufs Multiple submitters hereditary neoplastic syndrome
  • p.Asp52fs Multiple submitters hereditary neoplastic syndrome
  • p.Cys401fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln183Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln245Profs Multiple submitters hereditary neoplastic syndrome
  • p.Gln311Ter Multiple submitters SMAD4-related disorder
  • p.Gln366Ter Multiple submitters juvenile polyposis syndrome
  • p.Gln388Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln410fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln442Ter Multiple submitters juvenile polyposis syndrome
  • p.Gln449Ter Multiple submitters hereditary neoplastic syndrome
  • p.Gln450fs Multiple submitters hereditary neoplastic syndrome
  • p.Gln461Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly231fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly243fs Multiple submitters juvenile polyposis syndrome
  • p.Gly252Ter Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Gly393fs Multiple submitters juvenile polyposis syndrome
  • p.His92fs Multiple submitters hereditary neoplastic syndrome
  • p.Ile314fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile500Thr Multiple submitters SMAD4-related disorder
  • p.Ile500Val Multiple submitters SMAD4-related disorder ⚠
  • p.Leu529Ter Multiple submitters juvenile polyposis syndrome
  • p.Lys88fs Multiple submitters juvenile polyposis syndrome
  • p.Pro296fs Multiple submitters hereditary neoplastic syndrome
  • p.Pro342fs Multiple submitters hereditary neoplastic syndrome
  • p.Pro356fs Multiple submitters juvenile polyposis syndrome
  • p.Ser125fs Multiple submitters Myhre syndrome
  • p.Ser144fs Multiple submitters hereditary neoplastic syndrome
  • p.Ser154Ter Multiple submitters hereditary neoplastic syndrome
  • p.Ser232fs Multiple submitters hereditary neoplastic syndrome
  • p.Ser234Ter Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Ser242Ter Multiple submitters juvenile polyposis syndrome
  • p.Ser343Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser403Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr349fs Multiple submitters hereditary neoplastic syndrome
  • p.Trp268Ter Multiple submitters hereditary neoplastic syndrome
  • p.Trp302Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr195Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr353Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr413Ter Multiple submitters juvenile polyposis syndrome
  • c.1308+1704_1565del Single submitter generalized juvenile polyposis/juvenile polyposis coli
  • c.1308+2T>C Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.1309_1447del Single submitter
  • c.250-1G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.425-9A>G Single submitter juvenile polyposis syndrome
  • c.669_691delTCAGCCTGCCAGTATACTGGGGG Single submitter
  • c.898_904+1dup Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.(?_-538 Single submitter hereditary neoplastic syndrome
  • p.Ala202fs Single submitter juvenile polyposis syndrome
  • p.Ala212fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala274fs Single submitter juvenile polyposis syndrome
  • p.Ala39fs Single submitter malignant pancreatic neoplasm
  • p.Ala452fs Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Ala454fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ala459fs Single submitter juvenile polyposis syndrome
  • p.Arg38fs Single submitter juvenile polyposis syndrome
  • p.Arg502_Met503insTer Single submitter juvenile polyposis syndrome
  • p.Arg531fs Single submitter juvenile polyposis syndrome
  • p.Arg81fs Single submitter juvenile polyposis syndrome
  • p.Arg97fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asn107fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asn129fs Single submitter
  • p.Asn188fs Single submitter juvenile polyposis syndrome
  • p.Asn251_Thr254delinsLysTer Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Asn285fs Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Asn306fs Single submitter hereditary neoplastic syndrome
  • p.Asn8fs Single submitter juvenile polyposis syndrome
  • p.Asp160fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Asp415fs Single submitter hereditary neoplastic syndrome
  • p.Asp79fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Cys324_Ser325insTer Single submitter
  • p.Cys363Arg Single submitter hereditary neoplastic syndrome
  • p.Cys499fs Single submitter juvenile polyposis syndrome
  • p.Gln149Ter Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Gln180Ter Single submitter juvenile polyposis syndrome
  • p.Gln239fs Single submitter juvenile polyposis syndrome
  • p.Gln245Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gln248fs Single submitter juvenile polyposis syndrome
  • p.Gln248Ter Single submitter juvenile polyposis syndrome
  • p.Gln250fs Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Gln256Ter Single submitter juvenile polyposis syndrome
  • p.Gln284Ter Single submitter juvenile polyposis syndrome
  • p.Gln311fs Single submitter juvenile polyposis syndrome
  • p.Gln388_Leu389insTer Single submitter juvenile polyposis syndrome
  • p.Gln410Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gln446fs Single submitter
  • p.Gln450Ter Single submitter juvenile polyposis syndrome
  • p.Gln455Ter Single submitter juvenile polyposis syndrome
  • p.Gln461fs Single submitter juvenile polyposis syndrome
  • p.Gln534Ter Single submitter juvenile polyposis syndrome
  • p.Gln75fs Single submitter juvenile polyposis syndrome
  • p.Gln75Ter Single submitter hereditary neoplastic syndrome
  • p.Gln83Ter Single submitter juvenile polyposis syndrome
  • p.Glu337fs Single submitter juvenile polyposis syndrome
  • p.Glu377delinsHisTer Single submitter juvenile polyposis syndrome
  • p.Glu417fs Single submitter juvenile polyposis syndrome
  • p.Glu41Ter Single submitter juvenile polyposis syndrome
  • p.Gly471fs Single submitter juvenile polyposis syndrome
  • p.Gly473fs Single submitter juvenile polyposis syndrome
  • p.Gly510fs Single submitter juvenile polyposis syndrome
  • p.Gly89Ter Single submitter juvenile polyposis syndrome
  • p.His111_Val112insTer Single submitter hereditary neoplastic syndrome
  • p.His111fs Single submitter juvenile polyposis syndrome
  • p.His111Ter Single submitter juvenile polyposis syndrome
  • p.His261fs Single submitter juvenile polyposis syndrome
  • p.His287fs Single submitter hereditary neoplastic syndrome
  • p.His290fs Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.His305fs Single submitter hereditary neoplastic syndrome
  • p.His405fs Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.His530fs Single submitter juvenile polyposis syndrome
  • p.Ile490fs Single submitter juvenile polyposis syndrome
  • p.Ile500Met Single submitter juvenile polyposis syndrome
  • p.Ile518fs Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Leu109delinsGlnIleTer Single submitter
  • p.Leu148fs Single submitter juvenile polyposis syndrome
  • p.Leu172fs Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Leu237_Leu238insTer Single submitter juvenile polyposis syndrome
  • p.Leu280Ter Single submitter juvenile polyposis syndrome
  • p.Leu381Ter Single submitter juvenile polyposis syndrome
  • p.Leu414Ter Single submitter juvenile polyposis syndrome
  • p.Leu529fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu57fs Single submitter juvenile polyposis syndrome
  • p.Leu98fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Lys113fs Single submitter hereditary neoplastic syndrome
  • p.Lys340Ter Single submitter juvenile polyposis syndrome
  • p.Lys436Ter Single submitter juvenile polyposis syndrome
  • p.Lys46fs Single submitter juvenile polyposis syndrome
  • p.Lys70fs Single submitter juvenile polyposis syndrome
  • p.Met157_Val158insTer Single submitter juvenile polyposis syndrome
  • p.Met24fs Single submitter juvenile polyposis syndrome
  • p.Met294fs Single submitter hereditary neoplastic syndrome
  • p.Met503fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Phe119fs Single submitter juvenile polyposis syndrome
  • p.Phe166fs Single submitter juvenile polyposis syndrome
  • p.Phe438fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Phe505_Val506insTer Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Pro139fs Single submitter hereditary neoplastic syndrome
  • p.Pro198fs Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Pro203fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro246fs Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Pro313fs Single submitter juvenile polyposis syndrome
  • p.Pro346fs Single submitter juvenile polyposis syndrome
  • p.Pro472fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro522fs Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Ser138Ter Single submitter juvenile polyposis syndrome
  • p.Ser196fs Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Ser234fs Single submitter juvenile polyposis syndrome
  • p.Ser357fs Single submitter juvenile polyposis syndrome
  • p.Ser517fs Single submitter juvenile polyposis syndrome
  • p.Ser56_Leu57insTer Single submitter juvenile polyposis syndrome
  • p.Thr209fs Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Thr266fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Thr267fs Single submitter juvenile polyposis syndrome
  • p.Thr73fs Single submitter juvenile polyposis syndrome
  • p.Trp101Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Trp302fs Single submitter hereditary neoplastic syndrome
  • p.Trp323Ter Single submitter juvenile polyposis syndrome
  • p.Trp398Ter Single submitter juvenile polyposis syndrome
  • p.Trp524Ter Single submitter generalized juvenile polyposis/juvenile polyposis coli
  • p.Trp99Ter Single submitter juvenile polyposis syndrome
  • p.Tyr117fs Single submitter juvenile polyposis syndrome
  • p.Tyr131fs Single submitter juvenile polyposis syndrome
  • p.Tyr133Ter Single submitter juvenile polyposis syndrome
  • p.Tyr260Ter Single submitter juvenile polyposis syndrome
  • p.Tyr276Ter Single submitter
  • p.Tyr301Ter Single submitter juvenile polyposis syndrome
  • p.Tyr328fs Single submitter
  • p.Tyr353fs Single submitter juvenile polyposis syndrome
  • p.Tyr412_Tyr413insTer Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr413_Leu414delinsTer Single submitter hereditary neoplastic syndrome
  • p.Tyr430fs Single submitter juvenile polyposis syndrome
  • p.Tyr430Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr95fs Single submitter juvenile polyposis syndrome
  • p.Val128fs Single submitter hereditary neoplastic syndrome
  • p.Val341fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Val387fs Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Val407fs Single submitter juvenile polyposis syndrome
  • c.667+1G>C No assertion criteria gastric cancer
  • c.904+1_904+2insGCCTGTTCACAA No assertion criteria Abnormal bleeding
  • p.Arg515Ter No assertion criteria exocrine pancreatic carcinoma
  • p.Asp493His No assertion criteria exocrine pancreatic carcinoma
  • p.Glu538fs No assertion criteria juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Gly358Ter No assertion criteria exocrine pancreatic carcinoma
  • p.Gly386Asp No assertion criteria juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Leu533fs No assertion criteria juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Ser411fs No assertion criteria gastric cancer
  • p.Thr277_Pro278insTer No assertion criteria juvenile polyposis syndrome
  • p.Tyr412Ter No assertion criteria exocrine pancreatic carcinoma
  • p.Tyr413_Leu414insTer No assertion criteria colorectal cancer
  • p.Val348fs No assertion criteria juvenile polyposis syndrome

Pathogenic/Likely pathogenic 25

  • c.1308+1G>A Multiple submitters juvenile polyposis syndrome
  • c.1309-1G>A Multiple submitters juvenile polyposis syndrome
  • c.424+1G>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala451fs Multiple submitters juvenile polyposis syndrome
  • p.Ala460fs Multiple submitters juvenile polyposis syndrome
  • p.Arg361Cys Multiple submitters hereditary neoplastic syndrome
  • p.Arg361Gly Multiple submitters juvenile polyposis syndrome
  • p.Arg361His Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg380Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg400fs Multiple submitters juvenile polyposis syndrome
  • p.Asp351Val Multiple submitters juvenile polyposis syndrome
  • p.Asp424fs Multiple submitters juvenile polyposis syndrome
  • p.Cys499Arg Multiple submitters juvenile polyposis syndrome
  • p.Gln169Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln448fs Multiple submitters juvenile polyposis syndrome
  • p.Gln516Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly299fs Multiple submitters juvenile polyposis syndrome
  • p.Gly352Arg Multiple submitters juvenile polyposis syndrome
  • p.Gly508fs Multiple submitters juvenile polyposis syndrome
  • p.His427fs Multiple submitters juvenile polyposis syndrome
  • p.Pro292fs Multiple submitters Myhre syndrome
  • p.Pro470fs Multiple submitters juvenile polyposis syndrome
  • p.Ser178Ter Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val465fs Multiple submitters hereditary neoplastic syndrome
  • p.Phe505fs Single submitter juvenile polyposis syndrome

Likely pathogenic 55

  • c.1308+2T>G Multiple submitters juvenile polyposis syndrome
  • c.249+1G>T Multiple submitters juvenile polyposis syndrome
  • c.250-1G>C Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.250-2A>G Multiple submitters juvenile polyposis syndrome
  • c.787+2T>C Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.905-1G>A Multiple submitters SMAD4-related disorder
  • p.Cys363Gly Multiple submitters juvenile polyposis syndrome
  • p.Cys363Tyr Multiple submitters juvenile polyposis syndrome
  • p.Trp524Cys Multiple submitters hereditary neoplastic syndrome
  • p.Tyr353Cys Multiple submitters hereditary neoplastic syndrome
  • c.1139+1G>A Single submitter juvenile polyposis syndrome
  • c.1140-1G>T Single submitter juvenile polyposis syndrome
  • c.1140-2A>C Single submitter juvenile polyposis syndrome
  • c.1308+1G>T Single submitter hereditary neoplastic syndrome
  • c.1309-2A>G Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.159_160insL1 Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.249+1G>C Single submitter juvenile polyposis syndrome
  • c.250-1G>T Single submitter juvenile polyposis syndrome
  • c.424+1G>T Single submitter hereditary neoplastic syndrome
  • c.424+2del Single submitter
  • c.424+2T>C Single submitter juvenile polyposis syndrome
  • c.454+1809A>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.454+2T>C Single submitter juvenile polyposis syndrome
  • c.455-2A>T Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.788-1G>A Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.788-1G>C Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.955+1del Single submitter juvenile polyposis syndrome
  • c.955+1G>A Single submitter juvenile polyposis syndrome
  • p.Arg361Ser Single submitter juvenile polyposis syndrome
  • p.Asp351His Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Cys123fs Single submitter juvenile polyposis syndrome
  • p.Cys363del Single submitter hereditary neoplastic syndrome
  • p.Gln446Ter Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Glu330Gly Single submitter hereditary neoplastic syndrome
  • p.Glu538Ter Single submitter juvenile polyposis syndrome
  • p.Gly168Ter Single submitter generalized juvenile polyposis/juvenile polyposis coli
  • p.Gly30fs Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Gly508Asp Single submitter generalized juvenile polyposis/juvenile polyposis coli
  • p.Ile383Arg Single submitter generalized juvenile polyposis/juvenile polyposis coli
  • p.Ile383Met Single submitter juvenile polyposis syndrome
  • p.Leu17fs Single submitter Myhre syndrome
  • p.Leu364Trp Single submitter juvenile polyposis syndrome
  • p.Leu533Pro Single submitter juvenile polyposis syndrome
  • p.Pro356Leu Single submitter hereditary neoplastic syndrome
  • p.Pro511fs Single submitter
  • p.Pro514fs Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Ser403fs Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Ter553Cys Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Thr277fs Single submitter
  • p.Thr373fs Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Thr453Ile Single submitter ⚠
  • p.Trp268delinsCysTer Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Tyr353Ser Single submitter hereditary neoplastic syndrome
  • p.Val354_Pro356delinsSer Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Val506fs Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Conflicting classifications of pathogenicity 157

  • c.1140-10T>C Single submitter hereditary neoplastic syndrome
  • c.1140-11T>A Single submitter juvenile polyposis syndrome
  • c.1140-3A>C Single submitter hereditary neoplastic syndrome
  • c.1140-5C>G Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1309-2dup Single submitter juvenile polyposis syndrome ⚠
  • c.1309-5A>G Single submitter hereditary neoplastic syndrome
  • c.1309-5A>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.1447+15C>A Single submitter Myhre syndrome
  • c.1447+9G>A Single submitter hereditary neoplastic syndrome
  • c.1448-1G>A Single submitter juvenile polyposis syndrome ⚠
  • c.1448-5G>C Single submitter juvenile polyposis syndrome
  • c.1448-5G>T Single submitter hereditary neoplastic syndrome
  • c.1448-9T>A Single submitter juvenile polyposis syndrome
  • c.249_249+6dup Single submitter hereditary neoplastic syndrome
  • c.249+10A>C Single submitter hereditary neoplastic syndrome
  • c.250-10A>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.250-12T>G Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.250-4C>G Single submitter hereditary neoplastic syndrome
  • c.250-5T>C Single submitter hereditary neoplastic syndrome
  • c.424+5G>A Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.424+6T>C Single submitter hereditary neoplastic syndrome
  • c.425-6A>G Single submitter hereditary neoplastic syndrome
  • c.454+7A>C Single submitter juvenile polyposis syndrome
  • c.454+8A>T Single submitter juvenile polyposis syndrome
  • c.455-8C>T Single submitter hereditary neoplastic syndrome
  • c.667+3G>A Single submitter juvenile polyposis syndrome
  • c.667+6T>C Single submitter juvenile polyposis syndrome
  • c.668-13_668-11del Single submitter juvenile polyposis syndrome
  • c.668-15T>G Single submitter juvenile polyposis syndrome
  • c.668-3T>C Single submitter juvenile polyposis syndrome
  • c.668-7C>T Single submitter juvenile polyposis syndrome
  • c.787+1_788-1del Single submitter hereditary neoplastic syndrome ⚠
  • c.787+1G>A Single submitter juvenile polyposis syndrome ⚠
  • c.788-12del Single submitter juvenile polyposis syndrome
  • c.788-16G>A Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.788-3T>C Single submitter hereditary neoplastic syndrome
  • c.788-7T>C Single submitter hereditary neoplastic syndrome
  • c.788-9A>C Single submitter juvenile polyposis syndrome
  • c.904+14T>C Single submitter juvenile polyposis syndrome
  • c.904+6C>T Single submitter juvenile polyposis syndrome
  • c.905-1G>T Single submitter hereditary neoplastic syndrome ⚠
  • c.905-3T>C Single submitter hereditary neoplastic syndrome
  • c.905-8T>C Single submitter juvenile polyposis syndrome
  • c.905-8T>G Single submitter juvenile polyposis syndrome
  • c.905-9T>C Single submitter juvenile polyposis syndrome
  • c.956-3T>C Single submitter juvenile polyposis syndrome
  • c.956-4A>G Single submitter hereditary neoplastic syndrome
  • c.956-5T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.956-7C>A Single submitter hereditary neoplastic syndrome
  • c.-128+12A>G Single submitter Myhre syndrome
  • c.-9C>G Single submitter hereditary neoplastic syndrome
  • c.*1067G>A Single submitter generalized juvenile polyposis/juvenile polyposis coli
  • c.*10C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.*1874C>G Single submitter Myhre syndrome
  • c.*2G>T Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.*30A>C Single submitter Myhre syndrome
  • c.*4C>A Single submitter hereditary neoplastic syndrome
  • c.*6522C>T Single submitter Myhre syndrome
  • p.Ala190= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Ala212Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala226Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala375Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ala379= Single submitter hereditary neoplastic syndrome
  • p.Ala532Asp Single submitter juvenile polyposis syndrome ⚠
  • p.Arg189Cys Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg189His Single submitter hereditary neoplastic syndrome ⚠
  • p.Arg380= Single submitter juvenile polyposis syndrome
  • p.Arg380Gly Single submitter juvenile polyposis syndrome ⚠
  • p.Arg416= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Arg496Cys Single submitter SMAD4-related disorder ⚠
  • p.Arg515= Single submitter hereditary neoplastic syndrome
  • p.Arg531_Ala532insProLysThrGluHisGlnArgAsnThrLeuLeuAspTer Single submitter juvenile polyposis syndrome ⚠
  • p.Arg97Leu Single submitter juvenile polyposis syndrome ⚠
  • p.Asn13Ser Single submitter juvenile polyposis syndrome ⚠
  • p.Asn207Ser Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn213Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn216Ser Single submitter juvenile polyposis syndrome ⚠
  • p.Asn263= Single submitter hereditary neoplastic syndrome
  • p.Asn306Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn316Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Asn369Ser Single submitter hereditary neoplastic syndrome ⚠
  • p.Asp160Gly Single submitter juvenile polyposis syndrome ⚠
  • p.Asp494del Single submitter juvenile polyposis syndrome
  • p.Asp52Val Single submitter SMAD4-related disorder ⚠
  • p.Cys127Tyr Single submitter juvenile polyposis syndrome ⚠
  • p.Gln224Leu Single submitter SMAD4-related disorder ⚠
  • p.Gln248Leu Single submitter juvenile polyposis syndrome ⚠
  • p.Gln249Arg Single submitter hereditary neoplastic syndrome
  • p.Gln249Lys Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome ⚠
  • p.Gln284= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Gly230Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Gly231Ala Single submitter juvenile polyposis syndrome ⚠
  • p.Gly252= Single submitter hereditary neoplastic syndrome
  • p.Gly29= Single submitter juvenile polyposis syndrome
  • p.Gly386Ser Single submitter juvenile polyposis syndrome ⚠
  • p.Gly386Val Single submitter juvenile polyposis syndrome ⚠
  • p.Gly510Val Single submitter juvenile polyposis syndrome ⚠
  • p.His111Pro Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His282Pro Single submitter juvenile polyposis syndrome ⚠
  • p.His290= Single submitter hereditary neoplastic syndrome
  • p.His300Arg Single submitter juvenile polyposis syndrome ⚠
  • p.His405Tyr Single submitter juvenile polyposis syndrome ⚠
  • p.Ile141= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Ile179Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile314Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile347Val Single submitter juvenile polyposis syndrome ⚠
  • p.Ile383Thr Single submitter juvenile polyposis syndrome ⚠
  • p.Ile40Thr Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile545Met Single submitter juvenile polyposis syndrome ⚠
  • p.Ile58Val Single submitter juvenile polyposis syndrome ⚠
  • p.Ile61Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Ile6Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu109= Single submitter juvenile polyposis syndrome
  • p.Leu364= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Leu498= Single submitter juvenile polyposis syndrome
  • p.Leu551= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Lys70= Single submitter hereditary neoplastic syndrome
  • p.Met156Leu Single submitter juvenile polyposis syndrome ⚠
  • p.Met157del Single submitter hereditary neoplastic syndrome
  • p.Met157Ile Single submitter hereditary neoplastic syndrome ⚠
  • p.Met157Leu Single submitter hereditary neoplastic syndrome ⚠
  • p.Met157Thr Single submitter juvenile polyposis syndrome ⚠
  • p.Met24Val Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met294Val Single submitter hereditary neoplastic syndrome ⚠
  • p.Met4fs Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro153Ser Single submitter juvenile polyposis syndrome ⚠
  • p.Pro185Gln Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro185Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro203Ala Single submitter juvenile polyposis syndrome ⚠
  • p.Pro215= Single submitter hereditary neoplastic syndrome
  • p.Pro218Ala Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro246Thr Single submitter Heritable Thoracic Aortic Disease ⚠
  • p.Pro275= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro278Thr Single submitter hereditary neoplastic syndrome ⚠
  • p.Pro292= Single submitter hereditary neoplastic syndrome
  • p.Pro292Leu Single submitter juvenile polyposis syndrome ⚠
  • p.Pro295Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro320= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Pro548= Single submitter juvenile polyposis syndrome
  • p.Ser150Asn Single submitter juvenile polyposis syndrome ⚠
  • p.Ser155Gly Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser191Leu Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser196Gly Single submitter hereditary neoplastic syndrome ⚠
  • p.Ser271Asn Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr174Asn Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr192Ile Single submitter hereditary neoplastic syndrome ⚠
  • p.Thr222Ala Single submitter juvenile polyposis syndrome ⚠
  • p.Thr349= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Thr349Ile Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Thr7= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Thr7Met Single submitter hereditary neoplastic syndrome ⚠
  • p.Tyr114= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr301= Single submitter familial thoracic aortic aneurysm and aortic dissection
  • p.Val304Ile Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val333Ile Single submitter familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Val407Leu Single submitter juvenile polyposis syndrome ⚠
  • p.Val437Ile Single submitter juvenile polyposis syndrome ⚠

Benign 85

  • c.1140-256G>A Multiple submitters
  • c.1447+257T>C Multiple submitters
  • c.455-43A>T Multiple submitters juvenile polyposis syndrome
  • c.905-52A>G Multiple submitters juvenile polyposis syndrome
  • c.955+58C>T Multiple submitters
  • c.956-31G>A Multiple submitters
  • c.-127-46C>T Multiple submitters
  • c.*1179T>C Multiple submitters Myhre syndrome
  • c.*1659C>A Multiple submitters Myhre syndrome
  • c.*5994A>C Multiple submitters Myhre syndrome
  • c.*6423G>C Multiple submitters Myhre syndrome
  • c.*685A>C Multiple submitters Myhre syndrome
  • c.1139+446del Single submitter
  • c.1308+15del Single submitter juvenile polyposis syndrome
  • c.1308+96_1308+102del Single submitter
  • c.249+215A>G Single submitter
  • c.249+300del Single submitter
  • c.250-5del Single submitter juvenile polyposis syndrome
  • c.424+159T>C Single submitter
  • c.425-66_425-19dup Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.454+242del Single submitter
  • c.455-20_455-19del Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.667+238C>A Single submitter
  • c.904+29A>T Single submitter
  • c.904+35T>A Single submitter juvenile polyposis syndrome
  • c.904+43_904+45dup Single submitter
  • c.904+44_904+45dup Single submitter
  • c.-127-14T>C Single submitter
  • c.-127-306G>A Single submitter
  • c.-127-650C>T Single submitter
  • c.-128+89CGG[8] Single submitter
  • c.-148C>T Single submitter
  • c.*10C>A Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.*1866A>G Single submitter Myhre syndrome
  • c.*2122A>G Single submitter Myhre syndrome
  • c.*2353C>T Single submitter Myhre syndrome
  • c.*2361A>G Single submitter Myhre syndrome
  • c.*2796G>T Single submitter Myhre syndrome
  • c.*2989A>G Single submitter Myhre syndrome
  • c.*2G>A Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.*3662C>T Single submitter Myhre syndrome
  • c.*412A>G Single submitter Myhre syndrome
  • c.*4C>G Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.*5080A>G Single submitter Myhre syndrome
  • c.*5083G>A Single submitter Myhre syndrome
  • c.*5170C>T Single submitter Myhre syndrome
  • c.*5259A>T Single submitter Myhre syndrome
  • c.*5419T>C Single submitter Myhre syndrome
  • c.*5535A>G Single submitter Myhre syndrome
  • c.*5627G>A Single submitter Myhre syndrome
  • c.*5T>G Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.*6513C>T Single submitter Myhre syndrome
  • c.*9A>G Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Ala212= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Ala226= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Ala319= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Ala421= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Ala486= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Ala60= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Ala85= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Ala96= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Asn251= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Asn468= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Asp332= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Cys363= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Gln180= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Gln446= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Gln461= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Glu108= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Glu520= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Gly365= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.His132= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.His26= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.His291= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Ile19= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Ile74= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Leu381= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Leu535= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Leu82= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Lys340= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Pro139= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Thr211= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Thr254= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Val370= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Val84= Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Benign/Likely benign 241

  • c.1139+44T>C Multiple submitters
  • c.1140-10del Multiple submitters juvenile polyposis syndrome
  • c.1308+33_1308+34del Multiple submitters
  • c.1309-2del Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.1309-9dup Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.249+21dup Multiple submitters juvenile polyposis syndrome
  • c.249+24A>G Multiple submitters
  • c.455-6A>G Multiple submitters juvenile polyposis syndrome
  • c.667+9T>C Multiple submitters juvenile polyposis syndrome
  • c.787+21dup Multiple submitters juvenile polyposis syndrome
  • c.904+16dup Multiple submitters juvenile polyposis syndrome
  • c.904+45del Multiple submitters
  • c.904+45dup Multiple submitters
  • c.955+7G>A Multiple submitters hereditary neoplastic syndrome
  • c.*11C>T Multiple submitters hereditary neoplastic syndrome
  • c.*12G>A Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.*1820T>G Multiple submitters generalized juvenile polyposis/juvenile polyposis coli
  • c.*1G>C Multiple submitters hereditary neoplastic syndrome
  • c.*4862A>G Multiple submitters Myhre syndrome
  • c.*6009G>C Multiple submitters Myhre syndrome
  • c.*7_*8del Multiple submitters hereditary neoplastic syndrome
  • p.Ala118= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala152= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala202= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala274= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Ala309= Multiple submitters juvenile polyposis syndrome
  • p.Ala327= Multiple submitters juvenile polyposis syndrome
  • p.Ala375= Multiple submitters hereditary neoplastic syndrome
  • p.Ala39= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Ala425= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Ala433= Multiple submitters juvenile polyposis syndrome
  • p.Ala451= Multiple submitters juvenile polyposis syndrome
  • p.Ala452= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala454= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala460= Multiple submitters juvenile polyposis syndrome
  • p.Ala463= Multiple submitters hereditary neoplastic syndrome
  • p.Ala464= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala466= Multiple submitters juvenile polyposis syndrome
  • p.Ala487= Multiple submitters juvenile polyposis syndrome
  • p.Ala532= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala66= Multiple submitters hereditary neoplastic syndrome
  • p.Arg189= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Arg27= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Arg272= Multiple submitters hereditary neoplastic syndrome
  • p.Arg400= Multiple submitters hereditary neoplastic syndrome
  • p.Arg497= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Arg76= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn107= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Asn129= Multiple submitters hereditary neoplastic syndrome
  • p.Asn13= Multiple submitters hereditary neoplastic syndrome
  • p.Asn207= Multiple submitters juvenile polyposis syndrome
  • p.Asn216= Multiple submitters juvenile polyposis syndrome
  • p.Asn285= Multiple submitters hereditary neoplastic syndrome
  • p.Asn3= Multiple submitters hereditary neoplastic syndrome
  • p.Asn316= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Asn64= Multiple submitters hereditary neoplastic syndrome
  • p.Asn8= Multiple submitters juvenile polyposis syndrome
  • p.Asp124= Multiple submitters juvenile polyposis syndrome
  • p.Asp160= Multiple submitters juvenile polyposis syndrome
  • p.Asp2= Multiple submitters juvenile polyposis syndrome
  • p.Asp493= Multiple submitters juvenile polyposis syndrome
  • p.Asp537= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asp547= Multiple submitters hereditary neoplastic syndrome
  • p.Asp552= Multiple submitters juvenile polyposis syndrome
  • p.Cys123= Multiple submitters hereditary neoplastic syndrome
  • p.Cys25= Multiple submitters juvenile polyposis syndrome
  • p.Cys345= Multiple submitters hereditary neoplastic syndrome
  • p.Cys391= Multiple submitters hereditary neoplastic syndrome
  • p.Cys401= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Gln169= Multiple submitters hereditary neoplastic syndrome
  • p.Gln224= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln248= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Gln249= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln249Pro Multiple submitters hereditary neoplastic syndrome
  • p.Gln250= Multiple submitters hereditary neoplastic syndrome
  • p.Gln256= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Gln28= Multiple submitters juvenile polyposis syndrome
  • p.Gln334= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Gln366= Multiple submitters hereditary neoplastic syndrome
  • p.Gln388= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Gln410= Multiple submitters juvenile polyposis syndrome
  • p.Gln442= Multiple submitters juvenile polyposis syndrome
  • p.Gln449= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Gln450= Multiple submitters juvenile polyposis syndrome
  • p.Gln516= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln549= Multiple submitters juvenile polyposis syndrome
  • p.Gln75= Multiple submitters juvenile polyposis syndrome
  • p.Glu161= Multiple submitters juvenile polyposis syndrome
  • p.Glu175= Multiple submitters juvenile polyposis syndrome
  • p.Glu205= Multiple submitters hereditary neoplastic syndrome
  • p.Glu307= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu321= Multiple submitters juvenile polyposis syndrome
  • p.Glu374= Multiple submitters juvenile polyposis syndrome
  • p.Glu377= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu53= Multiple submitters juvenile polyposis syndrome
  • p.Gly140= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly145= Multiple submitters hereditary neoplastic syndrome
  • p.Gly176= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly231= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly30= Multiple submitters juvenile polyposis syndrome
  • p.Gly336= Multiple submitters juvenile polyposis syndrome
  • p.Gly359= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Gly395= Multiple submitters juvenile polyposis syndrome
  • p.Gly423= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Gly477= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Gly510= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly65= Multiple submitters juvenile polyposis syndrome
  • p.His105= Multiple submitters hereditary neoplastic syndrome
  • p.His111= Multiple submitters hereditary neoplastic syndrome
  • p.His21= Multiple submitters hereditary neoplastic syndrome
  • p.His233= Multiple submitters hereditary neoplastic syndrome
  • p.His283= Multiple submitters juvenile polyposis syndrome
  • p.His297= Multiple submitters juvenile polyposis syndrome
  • p.His305= Multiple submitters juvenile polyposis syndrome
  • p.His371= Multiple submitters juvenile polyposis syndrome
  • p.His382= Multiple submitters hereditary neoplastic syndrome
  • p.His405= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.His541= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.His92= Multiple submitters hereditary neoplastic syndrome
  • p.Ile182= Multiple submitters juvenile polyposis syndrome
  • p.Ile217= Multiple submitters hereditary neoplastic syndrome
  • p.Ile347= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Ile478= Multiple submitters hereditary neoplastic syndrome
  • p.Ile518= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile525Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile6= Multiple submitters juvenile polyposis syndrome
  • p.Ile94= Multiple submitters juvenile polyposis syndrome
  • p.Leu148= Multiple submitters juvenile polyposis syndrome
  • p.Leu172= Multiple submitters juvenile polyposis syndrome
  • p.Leu229= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Leu237= Multiple submitters juvenile polyposis syndrome
  • p.Leu308= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu367= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Leu402= Multiple submitters juvenile polyposis syndrome
  • p.Leu43= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu440= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu47= Multiple submitters juvenile polyposis syndrome
  • p.Leu484= Multiple submitters juvenile polyposis syndrome
  • p.Leu501= Multiple submitters juvenile polyposis syndrome
  • p.Leu533= Multiple submitters juvenile polyposis syndrome
  • p.Leu536= Multiple submitters juvenile polyposis syndrome
  • p.Leu54= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Leu98= Multiple submitters juvenile polyposis syndrome
  • p.Lys110= Multiple submitters juvenile polyposis syndrome
  • p.Lys113= Multiple submitters hereditary neoplastic syndrome
  • p.Lys122= Multiple submitters hereditary neoplastic syndrome
  • p.Lys385= Multiple submitters hereditary neoplastic syndrome
  • p.Lys48= Multiple submitters hereditary neoplastic syndrome
  • p.Lys50= Multiple submitters hereditary neoplastic syndrome
  • p.Lys507= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Lys88= Multiple submitters hereditary neoplastic syndrome
  • p.Phe119= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Phe214= Multiple submitters juvenile polyposis syndrome
  • p.Phe310= Multiple submitters juvenile polyposis syndrome
  • p.Phe362= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Phe438= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Phe505= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Phe90= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Pro10= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Pro130= Multiple submitters hereditary neoplastic syndrome
  • p.Pro170= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Pro185= Multiple submitters juvenile polyposis syndrome
  • p.Pro198= Multiple submitters hereditary neoplastic syndrome
  • p.Pro203= Multiple submitters hereditary neoplastic syndrome
  • p.Pro293= Multiple submitters hereditary neoplastic syndrome
  • p.Pro296= Multiple submitters juvenile polyposis syndrome
  • p.Pro303= Multiple submitters hereditary neoplastic syndrome
  • p.Pro313= Multiple submitters hereditary neoplastic syndrome
  • p.Pro472= Multiple submitters juvenile polyposis syndrome
  • p.Pro511= Multiple submitters juvenile polyposis syndrome
  • p.Pro514= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Pro544= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Pro550= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Ser125= Multiple submitters juvenile polyposis syndrome
  • p.Ser138= Multiple submitters juvenile polyposis syndrome
  • p.Ser171= Multiple submitters juvenile polyposis syndrome
  • p.Ser173= Multiple submitters juvenile polyposis syndrome
  • p.Ser178= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser18= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser191= Multiple submitters hereditary neoplastic syndrome
  • p.Ser196= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Ser210= Multiple submitters juvenile polyposis syndrome
  • p.Ser221= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Ser264= Multiple submitters hereditary neoplastic syndrome
  • p.Ser315= Multiple submitters hereditary neoplastic syndrome
  • p.Ser325= Multiple submitters hereditary neoplastic syndrome
  • p.Ser343= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Ser368= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Ser403= Multiple submitters juvenile polyposis syndrome
  • p.Ser42= Multiple submitters juvenile polyposis syndrome
  • p.Ser474= Multiple submitters hereditary neoplastic syndrome
  • p.Ser485= Multiple submitters hereditary neoplastic syndrome
  • p.Ser504= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser56= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Ter553= Multiple submitters juvenile polyposis syndrome
  • p.Thr11= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Thr147= Multiple submitters hereditary neoplastic syndrome
  • p.Thr174= Multiple submitters juvenile polyposis syndrome
  • p.Thr181= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Thr194= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr197= Multiple submitters juvenile polyposis syndrome
  • p.Thr209= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr259= Multiple submitters hereditary neoplastic syndrome
  • p.Thr277= Multiple submitters juvenile polyposis syndrome
  • p.Thr373= Multiple submitters hereditary neoplastic syndrome
  • p.Thr59= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr63= Multiple submitters juvenile polyposis syndrome
  • p.Thr77= Multiple submitters juvenile polyposis syndrome
  • p.Thr9= Multiple submitters juvenile polyposis syndrome
  • p.Tyr117= Multiple submitters juvenile polyposis syndrome
  • p.Tyr133= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr162= Multiple submitters juvenile polyposis syndrome
  • p.Tyr260= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr322= Multiple submitters juvenile polyposis syndrome
  • p.Tyr353= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr412= Multiple submitters juvenile polyposis syndrome
  • p.Tyr430= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr434= Multiple submitters juvenile polyposis syndrome
  • p.Tyr95= Multiple submitters juvenile polyposis syndrome
  • p.Val112= Multiple submitters hereditary neoplastic syndrome
  • p.Val136= Multiple submitters hereditary neoplastic syndrome
  • p.Val137= Multiple submitters juvenile polyposis syndrome
  • p.Val158= Multiple submitters juvenile polyposis syndrome
  • p.Val20= Multiple submitters juvenile polyposis syndrome
  • p.Val335= Multiple submitters juvenile polyposis syndrome
  • p.Val350= Multiple submitters juvenile polyposis syndrome
  • p.Val407= Multiple submitters juvenile polyposis syndrome
  • p.Val409= Multiple submitters juvenile polyposis syndrome
  • p.Val437= Multiple submitters juvenile polyposis syndrome
  • p.Val465= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.-401C>T Single submitter Myhre syndrome
  • c.*1864C>A Single submitter Myhre syndrome
  • c.*2488T>A Single submitter Myhre syndrome
  • c.*2914C>T Single submitter Myhre syndrome
  • c.*334C>T Single submitter Myhre syndrome
  • c.*3398A>G Single submitter Myhre syndrome
  • c.*4378T>G Single submitter Myhre syndrome
  • c.*4643T>C Single submitter Myhre syndrome
  • c.*4748C>T Single submitter Myhre syndrome
  • c.*5801T>C Single submitter Myhre syndrome
  • c.*6492A>T Single submitter Myhre syndrome

Likely benign 515

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1139+10G>A Multiple submitters juvenile polyposis syndrome
  • c.1139+10G>C Multiple submitters juvenile polyposis syndrome
  • c.1139+13T>A Multiple submitters juvenile polyposis syndrome
  • c.1139+17C>T Multiple submitters juvenile polyposis syndrome
  • c.1140-13T>C Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.1140-16C>A Multiple submitters juvenile polyposis syndrome
  • c.1140-18T>C Multiple submitters juvenile polyposis syndrome
  • c.1140-20A>G Multiple submitters juvenile polyposis syndrome
  • c.1140-36_1140-19del Multiple submitters juvenile polyposis syndrome
  • c.1140-4T>C Multiple submitters juvenile polyposis syndrome
  • c.1140-6C>T Multiple submitters hereditary neoplastic syndrome
  • c.1308+10A>G Multiple submitters juvenile polyposis syndrome
  • c.1308+11A>C Multiple submitters juvenile polyposis syndrome
  • c.1308+9C>A Multiple submitters juvenile polyposis syndrome
  • c.1308+9C>T Multiple submitters juvenile polyposis syndrome
  • c.1309-15G>C Multiple submitters juvenile polyposis syndrome
  • c.1309-15G>T Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.1309-16T>C Multiple submitters hereditary neoplastic syndrome
  • c.1447+10C>G Multiple submitters juvenile polyposis syndrome
  • c.1447+10C>T Multiple submitters juvenile polyposis syndrome
  • c.1447+16A>G Multiple submitters juvenile polyposis syndrome
  • c.1447+17T>C Multiple submitters hereditary neoplastic syndrome
  • c.1447+7A>G Multiple submitters juvenile polyposis syndrome
  • c.1447+8T>C Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.1448-10T>C Multiple submitters juvenile polyposis syndrome
  • c.1448-11T>C Multiple submitters juvenile polyposis syndrome
  • c.1448-12C>G Multiple submitters juvenile polyposis syndrome
  • c.1448-15A>C Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.1448-16A>G Multiple submitters juvenile polyposis syndrome
  • c.1448-18C>T Multiple submitters hereditary neoplastic syndrome
  • c.1448-33T>A Multiple submitters
  • c.1448-4T>C Multiple submitters juvenile polyposis syndrome
  • c.1448-6T>C Multiple submitters juvenile polyposis syndrome
  • c.1448-7C>T Multiple submitters juvenile polyposis syndrome
  • c.249+10A>G Multiple submitters juvenile polyposis syndrome
  • c.249+11T>C Multiple submitters juvenile polyposis syndrome
  • c.249+13_249+14insAT Multiple submitters juvenile polyposis syndrome
  • c.249+14G>A Multiple submitters juvenile polyposis syndrome
  • c.249+16G>A Multiple submitters juvenile polyposis syndrome
  • c.249+20T>C Multiple submitters juvenile polyposis syndrome
  • c.249+7C>G Multiple submitters juvenile polyposis syndrome
  • c.249+7C>T Multiple submitters juvenile polyposis syndrome
  • c.249+9T>C Multiple submitters juvenile polyposis syndrome
  • c.250-10A>G Multiple submitters juvenile polyposis syndrome
  • c.250-14G>A Multiple submitters hereditary neoplastic syndrome
  • c.250-15C>T Multiple submitters juvenile polyposis syndrome
  • c.250-4C>A Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.424+12_424+13del Multiple submitters juvenile polyposis syndrome
  • c.424+14G>A Multiple submitters hereditary neoplastic syndrome
  • c.424+19C>A Multiple submitters hereditary neoplastic syndrome
  • c.424+9A>C Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.424+9A>G Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.425-11A>C Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.425-12T>G Multiple submitters juvenile polyposis syndrome
  • c.425-15C>T Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.425-16C>T Multiple submitters juvenile polyposis syndrome
  • c.425-17C>T Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.425-18C>T Multiple submitters juvenile polyposis syndrome
  • c.425-7A>G Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.454+20C>T Multiple submitters juvenile polyposis syndrome
  • c.454+23C>T Multiple submitters
  • c.454+9T>A Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.455-15T>C Multiple submitters juvenile polyposis syndrome
  • c.455-16T>C Multiple submitters juvenile polyposis syndrome
  • c.455-18G>A Multiple submitters juvenile polyposis syndrome
  • c.455-19T>C Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.455-4A>G Multiple submitters hereditary neoplastic syndrome
  • c.455-4A>T Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.455-6A>T Multiple submitters juvenile polyposis syndrome
  • c.455-7T>C Multiple submitters hereditary neoplastic syndrome
  • c.667+10A>G Multiple submitters juvenile polyposis syndrome
  • c.667+12A>C Multiple submitters juvenile polyposis syndrome
  • c.667+13A>G Multiple submitters juvenile polyposis syndrome
  • c.667+17G>A Multiple submitters juvenile polyposis syndrome
  • c.667+17G>C Multiple submitters hereditary neoplastic syndrome
  • c.667+20G>T Multiple submitters juvenile polyposis syndrome
  • c.667+22_667+24del Multiple submitters juvenile polyposis syndrome
  • c.668-10_668-9dup Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.668-10G>A Multiple submitters juvenile polyposis syndrome
  • c.668-10G>C Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.668-11T>G Multiple submitters juvenile polyposis syndrome
  • c.668-16C>A Multiple submitters juvenile polyposis syndrome
  • c.668-18G>T Multiple submitters juvenile polyposis syndrome
  • c.668-19T>G Multiple submitters juvenile polyposis syndrome
  • c.668-4C>G Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.668-4C>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.668-6C>G Multiple submitters juvenile polyposis syndrome
  • c.668-6C>T Multiple submitters hereditary neoplastic syndrome
  • c.668-8T>C Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.787+10T>C Multiple submitters juvenile polyposis syndrome
  • c.787+15T>A Multiple submitters juvenile polyposis syndrome
  • c.787+15T>C Multiple submitters juvenile polyposis syndrome
  • c.787+15T>G Multiple submitters juvenile polyposis syndrome
  • c.787+7A>G Multiple submitters juvenile polyposis syndrome
  • c.787+8C>T Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.787+9A>C Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.788-10T>C Multiple submitters juvenile polyposis syndrome
  • c.788-14G>A Multiple submitters juvenile polyposis syndrome
  • c.788-14G>T Multiple submitters hereditary neoplastic syndrome
  • c.788-19T>C Multiple submitters juvenile polyposis syndrome
  • c.904+11G>A Multiple submitters juvenile polyposis syndrome
  • c.904+17G>A Multiple submitters juvenile polyposis syndrome
  • c.904+7T>G Multiple submitters hereditary neoplastic syndrome
  • c.904+8C>T Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.905-11C>G Multiple submitters juvenile polyposis syndrome
  • c.905-11C>T Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.905-13G>A Multiple submitters juvenile polyposis syndrome
  • c.905-16G>A Multiple submitters juvenile polyposis syndrome
  • c.905-19_905-17del Multiple submitters juvenile polyposis syndrome
  • c.905-5T>C Multiple submitters juvenile polyposis syndrome
  • c.905-7T>C Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.955+15A>G Multiple submitters juvenile polyposis syndrome
  • c.955+19T>C Multiple submitters juvenile polyposis syndrome
  • c.955+25_955+43del Multiple submitters juvenile polyposis syndrome
  • c.956-14T>C Multiple submitters juvenile polyposis syndrome
  • c.956-17C>T Multiple submitters juvenile polyposis syndrome
  • c.956-19T>C Multiple submitters juvenile polyposis syndrome
  • c.956-4A>T Multiple submitters juvenile polyposis syndrome
  • c.956-7C>T Multiple submitters juvenile polyposis syndrome
  • c.-127-3T>A Multiple submitters hereditary neoplastic syndrome
  • c.-15G>A Multiple submitters hereditary neoplastic syndrome
  • c.-20A>C Multiple submitters hereditary neoplastic syndrome
  • p.Ala199= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ala481= Multiple submitters juvenile polyposis syndrome
  • p.Ala488= Multiple submitters juvenile polyposis syndrome
  • p.Arg445= Multiple submitters juvenile polyposis syndrome
  • p.Arg81= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn213= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Asn279= Multiple submitters juvenile polyposis syndrome
  • p.Asp494= Multiple submitters juvenile polyposis syndrome
  • p.Gln249His Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gln311= Multiple submitters juvenile polyposis syndrome
  • p.Glu167= Multiple submitters juvenile polyposis syndrome
  • p.Glu235= Multiple submitters juvenile polyposis syndrome
  • p.Gly230= Multiple submitters juvenile polyposis syndrome
  • p.Gly286= Multiple submitters juvenile polyposis syndrome
  • p.Gly299= Multiple submitters juvenile polyposis syndrome
  • p.Gly471= Multiple submitters hereditary neoplastic syndrome
  • p.Gly491= Multiple submitters juvenile polyposis syndrome
  • p.His287= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ile376= Multiple submitters juvenile polyposis syndrome
  • p.Leu104= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Leu389= Multiple submitters hereditary neoplastic syndrome
  • p.Leu495= Multiple submitters juvenile polyposis syndrome
  • p.Leu529= Multiple submitters juvenile polyposis syndrome
  • p.Lys46= Multiple submitters juvenile polyposis syndrome
  • p.Pro246= Multiple submitters juvenile polyposis syndrome
  • p.Pro281= Multiple submitters hereditary neoplastic syndrome
  • p.Pro298= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Ser411= Multiple submitters hereditary neoplastic syndrome
  • p.Ser483= Multiple submitters juvenile polyposis syndrome
  • p.Ser5= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • p.Thr192= Multiple submitters juvenile polyposis syndrome
  • p.Thr265= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Thr266= Multiple submitters juvenile polyposis syndrome
  • p.Thr338= Multiple submitters juvenile polyposis syndrome
  • p.Thr34= Multiple submitters juvenile polyposis syndrome
  • p.Thr521= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr131= Multiple submitters juvenile polyposis syndrome
  • p.Tyr195= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Tyr276= Multiple submitters juvenile polyposis syndrome
  • p.Tyr413= Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Val128= Multiple submitters hereditary neoplastic syndrome
  • p.Val387= Multiple submitters hereditary neoplastic syndrome
  • p.Val44= Multiple submitters juvenile polyposis syndrome
  • p.Val72= Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.1139+12A>G Single submitter juvenile polyposis syndrome
  • c.1139+13T>C Single submitter juvenile polyposis syndrome
  • c.1139+13T>G Single submitter
  • c.1139+14A>C Single submitter juvenile polyposis syndrome
  • c.1139+15_1139+26del Single submitter juvenile polyposis syndrome
  • c.1139+15G>A Single submitter juvenile polyposis syndrome
  • c.1139+18A>C Single submitter juvenile polyposis syndrome
  • c.1139+18A>G Single submitter juvenile polyposis syndrome
  • c.1139+20A>C Single submitter juvenile polyposis syndrome
  • c.1139+36dup Single submitter
  • c.1139+388G>A Single submitter
  • c.1139+7A>G Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.1139+7A>T Single submitter juvenile polyposis syndrome
  • c.1139+9_1139+21del Single submitter juvenile polyposis syndrome
  • c.1140-10dup Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.1140-10T>A Single submitter juvenile polyposis syndrome
  • c.1140-15T>A Single submitter juvenile polyposis syndrome
  • c.1140-16_1140-15del Single submitter juvenile polyposis syndrome
  • c.1140-16C>T Single submitter juvenile polyposis syndrome
  • c.1140-17del Single submitter hereditary neoplastic syndrome
  • c.1140-18T>G Single submitter juvenile polyposis syndrome
  • c.1140-26A>C Single submitter
  • c.1140-35T>C Single submitter
  • c.1140-5C>T Single submitter juvenile polyposis syndrome
  • c.1140-8T>A Single submitter juvenile polyposis syndrome
  • c.1140-8T>C Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.1140-9C>A Single submitter juvenile polyposis syndrome
  • c.1308+11A>G Single submitter juvenile polyposis syndrome
  • c.1308+14T>G Single submitter juvenile polyposis syndrome
  • c.1308+16A>G Single submitter juvenile polyposis syndrome
  • c.1308+16A>T Single submitter juvenile polyposis syndrome
  • c.1308+17T>A Single submitter juvenile polyposis syndrome
  • c.1308+18T>C Single submitter juvenile polyposis syndrome
  • c.1308+19T>C Single submitter juvenile polyposis syndrome
  • c.1308+19T>G Single submitter juvenile polyposis syndrome
  • c.1308+214TTTA[7] Single submitter
  • c.1309-10T>C Single submitter juvenile polyposis syndrome
  • c.1309-11T>G Single submitter juvenile polyposis syndrome
  • c.1309-13T>G Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.1309-14T>C Single submitter juvenile polyposis syndrome
  • c.1309-48G>A Single submitter
  • c.1309-67G>C Single submitter
  • c.1309-8C>T Single submitter hereditary neoplastic syndrome
  • c.1309-8del Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.1447+10C>A Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.1447+13T>C Single submitter juvenile polyposis syndrome
  • c.1447+14T>C Single submitter juvenile polyposis syndrome
  • c.1447+16A>T Single submitter juvenile polyposis syndrome
  • c.1447+18T>A Single submitter juvenile polyposis syndrome
  • c.1447+19C>A Single submitter juvenile polyposis syndrome
  • c.1447+20T>C Single submitter juvenile polyposis syndrome
  • c.1447+7A>T Single submitter juvenile polyposis syndrome
  • c.1447+8T>G Single submitter juvenile polyposis syndrome
  • c.1447+9G>T Single submitter juvenile polyposis syndrome
  • c.1448-11T>G Single submitter juvenile polyposis syndrome
  • c.1448-14A>G Single submitter hereditary neoplastic syndrome
  • c.1448-17C>T Single submitter juvenile polyposis syndrome
  • c.1448-18C>A Single submitter juvenile polyposis syndrome
  • c.1448-25_1448-18del Single submitter juvenile polyposis syndrome
  • c.1448-49G>C Single submitter
  • c.1448-8T>C Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.1448-9T>C Single submitter juvenile polyposis syndrome
  • c.249+10A>T Single submitter juvenile polyposis syndrome
  • c.249+10dup Single submitter juvenile polyposis syndrome
  • c.249+11_249+12del Single submitter juvenile polyposis syndrome
  • c.249+12_249+13del Single submitter juvenile polyposis syndrome
  • c.249+12A>G Single submitter juvenile polyposis syndrome
  • c.249+135T>C Single submitter
  • c.249+13A>T Single submitter juvenile polyposis syndrome
  • c.249+14G>C Single submitter juvenile polyposis syndrome
  • c.249+15A>G Single submitter juvenile polyposis syndrome
  • c.249+16G>T Single submitter juvenile polyposis syndrome
  • c.249+7_249+11del Single submitter juvenile polyposis syndrome
  • c.249+7_249+13delinsAT Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.249+9del Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.249+9T>A Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.250-11T>A Single submitter juvenile polyposis syndrome
  • c.250-12T>C Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.250-14_250-11del Single submitter hereditary neoplastic syndrome
  • c.250-14G>T Single submitter hereditary neoplastic syndrome
  • c.250-16T>C Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.250-17G>A Single submitter juvenile polyposis syndrome
  • c.250-18G>C Single submitter juvenile polyposis syndrome
  • c.250-19T>A Single submitter juvenile polyposis syndrome
  • c.250-19T>C Single submitter juvenile polyposis syndrome
  • c.250-41C>T Single submitter
  • c.250-42G>T Single submitter
  • c.250-7T>C Single submitter juvenile polyposis syndrome
  • c.424+10C>G Single submitter juvenile polyposis syndrome
  • c.424+12T>C Single submitter
  • c.424+13T>C Single submitter juvenile polyposis syndrome
  • c.424+13T>G Single submitter juvenile polyposis syndrome
  • c.424+16T>G Single submitter juvenile polyposis syndrome
  • c.424+20A>G Single submitter juvenile polyposis syndrome
  • c.424+8G>A Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.425-11A>G Single submitter hereditary neoplastic syndrome
  • c.425-12T>A Single submitter juvenile polyposis syndrome
  • c.425-12T>C Single submitter juvenile polyposis syndrome
  • c.425-16C>G Single submitter juvenile polyposis syndrome
  • c.425-17C>G Single submitter juvenile polyposis syndrome
  • c.425-18_425-17delinsT Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.425-19T>C Single submitter juvenile polyposis syndrome
  • c.425-3A>C Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.425-5T>C Single submitter familial thoracic aortic aneurysm and aortic dissection
  • c.425-8C>T Single submitter juvenile polyposis syndrome
  • c.454+11T>C Single submitter juvenile polyposis syndrome
  • c.454+12G>A Single submitter hereditary neoplastic syndrome
  • c.454+12G>C Single submitter juvenile polyposis syndrome
  • c.454+15T>C Single submitter juvenile polyposis syndrome
  • c.454+16C>G Single submitter juvenile polyposis syndrome
  • c.454+19A>G Single submitter juvenile polyposis syndrome
  • c.454+2080A>C Single submitter
  • c.454+20C>G Single submitter juvenile polyposis syndrome
  • c.454+38G>C Single submitter
  • c.454+8A>G Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.454+9T>C Single submitter juvenile polyposis syndrome
  • c.455-10T>G Single submitter juvenile polyposis syndrome
  • c.455-14A>G Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.455-17_455-16insG Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.455-18G>C Single submitter juvenile polyposis syndrome
  • c.455-18G>T Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.455-20A>C Single submitter juvenile polyposis syndrome
  • c.455-20A>G Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.455-37_455-36del Single submitter
  • c.455-5T>A Single submitter juvenile polyposis syndrome
  • c.455-8C>A Single submitter juvenile polyposis syndrome
  • c.667+10A>C Single submitter juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • c.667+12A>T Single submitter juvenile polyposis syndrome
  • c.667+14T>A Single submitter juvenile polyposis syndrome
  • c.667+17_667+114del Single submitter juvenile polyposis syndrome
  • c.667+19T>A Single submitter juvenile polyposis syndrome
  • c.667+20G>A Single submitter juvenile polyposis syndrome
  • c.667+30A>G Single submitter
  • c.667+7T>A Single submitter juvenile polyposis syndrome

Uncertain significance 1107

Showing the top 300 by review status; the full set is in the sitemap.

  • c.1139+1_1139+4dup Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.1139+3A>G Multiple submitters juvenile polyposis syndrome
  • c.1140-3A>T Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.1308+4A>T Multiple submitters juvenile polyposis syndrome
  • c.1308+5_1308+11del Multiple submitters hereditary neoplastic syndrome
  • c.249+6T>A Multiple submitters juvenile polyposis syndrome
  • c.250-3T>C Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.424+4A>C Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.425-3A>G Multiple submitters juvenile polyposis syndrome
  • c.454+3A>G Multiple submitters juvenile polyposis syndrome
  • c.787+3A>G Multiple submitters juvenile polyposis syndrome
  • c.787+4T>C Multiple submitters hereditary neoplastic syndrome
  • c.905-3T>G Multiple submitters hereditary neoplastic syndrome
  • c.955+4A>G Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • c.955+5G>A Multiple submitters hereditary neoplastic syndrome
  • c.955+6T>C Multiple submitters juvenile polyposis syndrome
  • c.-10A>T Multiple submitters hereditary neoplastic syndrome
  • c.-128+6C>T Multiple submitters hereditary neoplastic syndrome
  • c.-1A>C Multiple submitters hereditary neoplastic syndrome
  • c.-3C>G Multiple submitters hereditary neoplastic syndrome
  • c.-3C>T Multiple submitters hereditary neoplastic syndrome
  • c.-69G>A Multiple submitters juvenile polyposis syndrome
  • c.*202A>G Multiple submitters Myhre syndrome
  • c.*5534C>G Multiple submitters Myhre syndrome
  • c.*5547A>G Multiple submitters Myhre syndrome
  • c.*5553A>G Multiple submitters Myhre syndrome
  • p.Ala118Val Multiple submitters juvenile polyposis syndrome ⚠
  • p.Ala152Thr Multiple submitters juvenile polyposis syndrome ⚠
  • p.Ala15Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala15Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala190Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala202Thr Multiple submitters juvenile polyposis syndrome ⚠
  • p.Ala202Val Multiple submitters juvenile polyposis syndrome ⚠
  • p.Ala208Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala208Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala212Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala220Val Multiple submitters juvenile polyposis syndrome ⚠
  • p.Ala241Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala241Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala241Val Multiple submitters juvenile polyposis syndrome ⚠
  • p.Ala258Ser Multiple submitters juvenile polyposis syndrome ⚠
  • p.Ala258Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala274Thr Multiple submitters juvenile polyposis syndrome ⚠
  • p.Ala274Val Multiple submitters juvenile polyposis syndrome ⚠
  • p.Ala309Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala309Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala36Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala375Thr Multiple submitters juvenile polyposis syndrome ⚠
  • p.Ala406Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala406Val Multiple submitters juvenile polyposis syndrome ⚠
  • p.Ala451Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala452Val Multiple submitters juvenile polyposis syndrome ⚠
  • p.Ala456Thr Multiple submitters juvenile polyposis syndrome ⚠
  • p.Ala459Thr Multiple submitters hereditary neoplastic syndrome
  • p.Ala466Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ala466Val Multiple submitters juvenile polyposis syndrome ⚠
  • p.Ala488Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala546Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ala66Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg189Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg189Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg189Ser Multiple submitters juvenile polyposis syndrome ⚠
  • p.Arg272Lys Multiple submitters juvenile polyposis syndrome ⚠
  • p.Arg27Gly Multiple submitters juvenile polyposis syndrome ⚠
  • p.Arg400Gly Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg400Ser Multiple submitters juvenile polyposis syndrome ⚠
  • p.Arg420Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg420His Multiple submitters juvenile polyposis syndrome ⚠
  • p.Arg441Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg441His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg445Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg496His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg497Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg497His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg502Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg531Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg531Trp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg87Gln Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Arg87Trp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg97Cys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Arg97His Multiple submitters juvenile polyposis syndrome ⚠
  • p.Asn129Ser Multiple submitters juvenile polyposis syndrome ⚠
  • p.Asn13Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn151Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn151Lys Multiple submitters juvenile polyposis syndrome ⚠
  • p.Asn188His Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn188Lys Multiple submitters juvenile polyposis syndrome ⚠
  • p.Asn213His Multiple submitters juvenile polyposis syndrome ⚠
  • p.Asn216Asp Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome ⚠
  • p.Asn251Ser Multiple submitters juvenile polyposis syndrome ⚠
  • p.Asn263Lys Multiple submitters juvenile polyposis syndrome ⚠
  • p.Asn279Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn3Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn468Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asn64Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asn8Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp124Gly Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Asp2Ala Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome ⚠
  • p.Asp2Asn Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Asp547Asn Multiple submitters juvenile polyposis syndrome
  • p.Asp55Tyr Multiple submitters juvenile polyposis syndrome ⚠
  • p.Cys123Tyr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Cys16Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Cys16Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Cys324Arg Multiple submitters juvenile polyposis syndrome ⚠
  • p.Cys345Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Cys345Tyr Multiple submitters juvenile polyposis syndrome ⚠
  • p.Cys391Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln149Lys Multiple submitters juvenile polyposis syndrome
  • p.Gln180Glu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln183Glu Multiple submitters juvenile polyposis syndrome ⚠
  • p.Gln239Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln239His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln248Glu Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome ⚠
  • p.Gln249Glu Multiple submitters juvenile polyposis syndrome ⚠
  • p.Gln250Arg Multiple submitters juvenile polyposis syndrome ⚠
  • p.Gln250His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln284Pro Multiple submitters juvenile polyposis syndrome ⚠
  • p.Gln289Lys Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gln311Arg Multiple submitters hereditary neoplastic syndrome
  • p.Gln442His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln448Arg Multiple submitters juvenile polyposis syndrome ⚠
  • p.Gln448Glu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln448Lys Multiple submitters juvenile polyposis syndrome ⚠
  • p.Gln449Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gln516Arg Multiple submitters juvenile polyposis syndrome ⚠
  • p.Gln549fs Multiple submitters juvenile polyposis syndrome
  • p.Gln549Pro Multiple submitters juvenile polyposis syndrome ⚠
  • p.Gln549Ter Multiple submitters hereditary neoplastic syndrome
  • p.Glu134Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu205Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Glu307Lys Multiple submitters juvenile polyposis syndrome ⚠
  • p.Glu321Lys Multiple submitters juvenile polyposis syndrome ⚠
  • p.Glu520Gln Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Glu526Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Glu538Lys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly168Glu Multiple submitters juvenile polyposis syndrome ⚠
  • p.Gly176Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly230Arg Multiple submitters juvenile polyposis syndrome ⚠
  • p.Gly231Asp Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly231Val Multiple submitters generalized juvenile polyposis/juvenile polyposis coli ⚠
  • p.Gly236Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Gly247Glu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly252Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly255Cys Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly270Arg Multiple submitters juvenile polyposis syndrome ⚠
  • p.Gly286Asp Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly286Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Gly299Arg Multiple submitters juvenile polyposis syndrome ⚠
  • p.Gly29Asp Multiple submitters juvenile polyposis syndrome ⚠
  • p.Gly359Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Gly510Glu Multiple submitters juvenile polyposis syndrome ⚠
  • p.Gly80= Multiple submitters hereditary neoplastic syndrome
  • p.His111Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His111Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His132Tyr Multiple submitters juvenile polyposis syndrome ⚠
  • p.His164Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His164Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His177Arg Multiple submitters juvenile polyposis syndrome ⚠
  • p.His177Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His177Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His177Tyr Multiple submitters juvenile polyposis syndrome ⚠
  • p.His21Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His233Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His233Asn Multiple submitters juvenile polyposis syndrome ⚠
  • p.His261Tyr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His282Tyr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His283Tyr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His287Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.His291Tyr Multiple submitters juvenile polyposis syndrome ⚠
  • p.His305Pro Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.His427Arg Multiple submitters juvenile polyposis syndrome ⚠
  • p.His530Asn Multiple submitters juvenile polyposis syndrome ⚠
  • p.His530Gln Multiple submitters juvenile polyposis syndrome ⚠
  • p.His541Leu Multiple submitters juvenile polyposis syndrome ⚠
  • p.His67Tyr Multiple submitters juvenile polyposis syndrome
  • p.Ile141Thr Multiple submitters juvenile polyposis syndrome ⚠
  • p.Ile179Phe Multiple submitters juvenile polyposis syndrome ⚠
  • p.Ile182Met Multiple submitters juvenile polyposis syndrome
  • p.Ile182Val Multiple submitters juvenile polyposis syndrome ⚠
  • p.Ile19Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile217Met Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile217Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile217Val Multiple submitters juvenile polyposis syndrome ⚠
  • p.Ile228Val Multiple submitters juvenile polyposis syndrome ⚠
  • p.Ile240Arg Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome ⚠
  • p.Ile240Leu Multiple submitters juvenile polyposis syndrome ⚠
  • p.Ile326Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile326Val Multiple submitters juvenile polyposis syndrome ⚠
  • p.Ile347Met Multiple submitters juvenile polyposis syndrome ⚠
  • p.Ile376Thr Multiple submitters juvenile polyposis syndrome ⚠
  • p.Ile376Val Multiple submitters juvenile polyposis syndrome ⚠
  • p.Ile40Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile429Leu Multiple submitters juvenile polyposis syndrome ⚠
  • p.Ile429Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile435Met Multiple submitters juvenile polyposis syndrome ⚠
  • p.Ile469Val Multiple submitters juvenile polyposis syndrome
  • p.Ile482Leu Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome ⚠
  • p.Ile482Val Multiple submitters juvenile polyposis syndrome ⚠
  • p.Ile490Val Multiple submitters juvenile polyposis syndrome ⚠
  • p.Ile518Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile525Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile527Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile545Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile545Thr Multiple submitters juvenile polyposis syndrome ⚠
  • p.Ile61Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile6Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ile74Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ile94Met Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu104Val Multiple submitters juvenile polyposis syndrome ⚠
  • p.Leu148Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu200Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu229Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu237Pro Multiple submitters juvenile polyposis syndrome
  • p.Leu308Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu308Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Leu43Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu440Phe Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu47Val Multiple submitters juvenile polyposis syndrome ⚠
  • p.Leu484Pro Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Leu533Phe Multiple submitters juvenile polyposis syndrome ⚠
  • p.Leu551Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Lys159Arg Multiple submitters juvenile polyposis syndrome ⚠
  • p.Lys159Met Multiple submitters juvenile polyposis syndrome ⚠
  • p.Lys37Arg Multiple submitters juvenile polyposis syndrome ⚠
  • p.Lys385Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Lys48Arg Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Lys70Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Lys70Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met157Val Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Met1fs Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Met1Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection
  • p.Met1Val Multiple submitters juvenile polyposis syndrome
  • p.Met24Ile Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Met331Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Met543Ile Multiple submitters juvenile polyposis syndrome ⚠
  • p.Met543Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Met543Val Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Phe253Tyr Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome ⚠
  • p.Phe310Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro10Leu Multiple submitters juvenile polyposis syndrome ⚠
  • p.Pro185Ser Multiple submitters juvenile polyposis syndrome ⚠
  • p.Pro185Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro186Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro186Arg Multiple submitters juvenile polyposis syndrome
  • p.Pro186Leu Multiple submitters juvenile polyposis syndrome ⚠
  • p.Pro198Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro198Arg Multiple submitters hereditary neoplastic syndrome
  • p.Pro198Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro198Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro203Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro215Ala Multiple submitters juvenile polyposis syndrome ⚠
  • p.Pro215Arg Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro215Ser Multiple submitters juvenile polyposis syndrome ⚠
  • p.Pro215Thr Multiple submitters juvenile polyposis syndrome ⚠
  • p.Pro218Ser Multiple submitters familial pancreatic carcinoma ⚠
  • p.Pro218Thr Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro225Ser Multiple submitters juvenile polyposis syndrome ⚠
  • p.Pro244Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro246Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro281Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro281Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro292Ala Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro293Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro296Arg Multiple submitters juvenile polyposis syndrome
  • p.Pro296His Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro296Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro303Ala Multiple submitters juvenile polyposis syndrome ⚠
  • p.Pro303His Multiple submitters Myhre syndrome ⚠
  • p.Pro303Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro312Ser Multiple submitters juvenile polyposis syndrome ⚠
  • p.Pro313Ala Multiple submitters juvenile polyposis syndrome ⚠
  • p.Pro313Leu Multiple submitters juvenile polyposis syndrome ⚠
  • p.Pro313Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro318Ala Multiple submitters juvenile polyposis syndrome ⚠
  • p.Pro346Ala Multiple submitters juvenile polyposis syndrome ⚠
  • p.Pro356Ser Multiple submitters juvenile polyposis syndrome ⚠
  • p.Pro470Arg Multiple submitters juvenile polyposis syndrome ⚠
  • p.Pro470Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro472Ala Multiple submitters juvenile polyposis syndrome ⚠
  • p.Pro472Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro480Ser Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Pro511Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro511Ser Multiple submitters juvenile polyposis syndrome ⚠
  • p.Pro514Leu Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome ⚠
  • p.Pro514Ser Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome ⚠
  • p.Pro522Leu Multiple submitters juvenile polyposis syndrome ⚠
  • p.Pro544Leu Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome ⚠
  • p.Pro544Ser Multiple submitters juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome ⚠
  • p.Pro548Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Pro550Leu Multiple submitters juvenile polyposis syndrome ⚠
  • p.Pro550Ser Multiple submitters juvenile polyposis syndrome ⚠
  • p.Ser150Ile Multiple submitters juvenile polyposis syndrome ⚠
  • p.Ser154Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser154Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser155Asn Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser155Thr Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser171Leu Multiple submitters hereditary neoplastic syndrome ⚠
  • p.Ser173Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
  • p.Ser178Leu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠