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Gene entry

SMAD4

SMAD family member 4

Chromosome
18
Cytoband
18q21.2
Variants (rsID)
113

SMAD4 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 18 (region 18q21.2). Its official name is “SMAD family member 4”. The reference table lists 113 variants (rsID) for this gene.

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Clinically classified variants

73 reference-table entries with clinical significance.

  • rs10470Benignsingle nucleotide variantMyhre syndrome|Generalized juvenile polyposis/juvenile polyposis coli|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • rs11663402Benignsingle nucleotide variantJuvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Generalized juvenile polyposis/juvenile polyposis coli|Myhre syndrome|Hereditary cancer-predisposing syndrome|Familial thoracic aortic aneurysm and aortic dissection|Carcinoma of colon
  • rs144378484Benignsingle nucleotide variantHereditary cancer-predisposing syndrome|Generalized juvenile polyposis/juvenile polyposis coli|Cardiovascular phenotype|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Myhre syndrome|Juvenile polyposis syndrome
  • rs149755320Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Generalized juvenile polyposis/juvenile polyposis coli|Gastrointestinal polyposis|Myhre syndrome|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Familial thoracic aortic aneurysm and aortic dissection|Juvenile polyposis syndrome
  • rs200772603Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Generalized juvenile polyposis/juvenile polyposis coli|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Myhre syndrome|Familial thoracic aortic aneurysm and aortic dissection|Juvenile polyposis syndrome
  • rs377767346Conflicting interpretationssingle nucleotide variantJuvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Juvenile polyposis syndrome
  • rs7238500Conflicting interpretationssingle nucleotide variantHereditary cancer-predisposing syndrome|Generalized juvenile polyposis/juvenile polyposis coli|Cardiovascular phenotype|Juvenile polyposis syndrome|Myhre syndrome
  • rs752243771Conflicting interpretationssingle nucleotide variantJuvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Myhre syndrome|Generalized juvenile polyposis/juvenile polyposis coli|Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
  • rs756795016Conflicting interpretationssingle nucleotide variantGeneralized juvenile polyposis/juvenile polyposis coli|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Myhre syndrome|Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
  • rs1060504026Likely benignsingle nucleotide variantJuvenile polyposis syndrome|Hereditary cancer-predisposing syndrome
  • rs863224400Likely benignsingle nucleotide variantJuvenile polyposis syndrome|Hereditary cancer-predisposing syndrome
  • rs1060500740Likely pathogenicsingle nucleotide variantJuvenile polyposis syndrome
  • rs1064796471Likely pathogenicMicrosatellite
  • rs281875324Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs377767350Likely pathogenicsingle nucleotide variantJuvenile polyposis syndrome
  • rs377767353Likely pathogenicsingle nucleotide variantJuvenile polyposis syndrome
  • rs377767354Likely pathogenicsingle nucleotide variantJuvenile polyposis syndrome
  • rs377767382Likely pathogenicsingle nucleotide variantJuvenile polyposis syndrome
  • rs587781618Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs786205514Likely pathogenicsingle nucleotide variant
  • rs876660556Likely pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
  • rs1057519739Pathogenicsingle nucleotide variantNeoplasm of the large intestine
  • rs1057519740Pathogenicsingle nucleotide variantNeoplasm of the large intestine
  • rs1057519741Pathogenicsingle nucleotide variantNeoplasm of the large intestine
  • rs1060500733Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
  • rs1060500734PathogenicDeletionHereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
  • rs1060500739PathogenicDeletionJuvenile polyposis syndrome
  • rs1060500742PathogenicDeletionJuvenile polyposis syndrome
  • rs1060500744PathogenicDeletionJuvenile polyposis syndrome
  • rs121912576Pathogenicsingle nucleotide variantCarcinoma of pancreas
  • rs121912577Pathogenicsingle nucleotide variantCarcinoma of pancreas
  • rs121912578Pathogenicsingle nucleotide variantCarcinoma of pancreas
  • rs121912579Pathogenicsingle nucleotide variantCarcinoma of pancreas
  • rs121912580Pathogenicsingle nucleotide variantJuvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Neoplasm of the large intestine|Pancreatic adenocarcinoma|Carcinoma of esophagus|Lung adenocarcinoma|Prostate adenocarcinoma|Gastric adenocarcinoma
  • rs121912581Pathogenicsingle nucleotide variantJuvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Juvenile polyposis syndrome
  • rs1316902116Pathogenicsingle nucleotide variantJuvenile polyposis syndrome
  • rs281875320Pathogenicsingle nucleotide variantMyhre syndrome
  • rs281875321Pathogenicsingle nucleotide variantMyhre syndrome|Juvenile polyposis syndrome
  • rs281875322Pathogenicsingle nucleotide variantMyhre syndrome|Generalized juvenile polyposis/juvenile polyposis coli|Inborn genetic diseases|Generalized juvenile polyposis/juvenile polyposis coli|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Carcinoma of pancreas|Myhre syndrome|Generalized juvenile polyposis/juvenile polyposis coli|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Myhre syndrome|Intellectual disability|Juvenile polyposis syndrome|Neurodevelopmental delay
  • rs377767326Pathogenicsingle nucleotide variantJuvenile polyposis syndrome
  • rs377767328PathogenicMicrosatelliteHereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
  • rs377767331Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Juvenile polyposis syndrome
  • rs377767334PathogenicDuplicationJuvenile polyposis of stomach|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
  • rs377767335PathogenicInsertionGeneralized juvenile polyposis/juvenile polyposis coli
  • rs377767336PathogenicMicrosatelliteJuvenile polyposis syndrome
  • rs377767343PathogenicDeletionJuvenile polyposis syndrome
  • rs377767344PathogenicDeletionJuvenile polyposis syndrome
  • rs377767347Pathogenicsingle nucleotide variantSquamous cell carcinoma of the head and neck|Carcinoma of esophagus|Pancreatic adenocarcinoma|Neoplasm of uterine cervix|Neoplasm of the large intestine|Breast neoplasm|Lung adenocarcinoma|Gastric adenocarcinoma|Hereditary cancer-predisposing syndrome|Juvenile polyposis syndrome|Generalized juvenile polyposis/juvenile polyposis coli|Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Carcinoma of pancreas|Myhre syndrome
  • rs377767360Pathogenicsingle nucleotide variantJuvenile polyposis/hereditary hemorrhagic telangiectasia syndrome|Hereditary cancer-predisposing syndrome|Gallbladder cancer|Juvenile polyposis syndrome
  • rs377767363PathogenicDeletionHereditary cancer-predisposing syndrome
  • rs377767373PathogenicMicrosatelliteHereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
  • rs377767385PathogenicDeletionJuvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
  • rs587781359Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
  • rs587783060PathogenicDuplicationGeneralized juvenile polyposis/juvenile polyposis coli|Juvenile polyposis syndrome
  • rs730881954Pathogenicsingle nucleotide variantJuvenile polyposis syndrome
  • rs730881956PathogenicDuplicationHereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
  • rs730881957PathogenicDeletion
  • rs746084369Pathogenicsingle nucleotide variant
  • rs786204125PathogenicDuplicationGeneralized juvenile polyposis/juvenile polyposis coli|Juvenile polyposis syndrome
  • rs80338964Pathogenicsingle nucleotide variantGeneralized juvenile polyposis/juvenile polyposis coli|Juvenile polyposis syndrome
  • rs863224507Pathogenicsingle nucleotide variantGeneralized juvenile polyposis/juvenile polyposis coli|Juvenile polyposis syndrome
  • rs864622252PathogenicDeletionGeneralized juvenile polyposis/juvenile polyposis coli|Juvenile polyposis syndrome
  • rs876658694Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs876660079Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
  • rs876660150PathogenicDuplicationHereditary cancer-predisposing syndrome
  • rs878854765PathogenicDuplicationJuvenile polyposis syndrome
  • rs878854769Pathogenicsingle nucleotide variantHereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
  • rs377767327Uncertain significancesingle nucleotide variant
  • rs377767339Uncertain significancesingle nucleotide variant
  • rs377767355Uncertain significancesingle nucleotide variant
  • rs377767361Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome|Juvenile polyposis syndrome
  • rs377767369Uncertain significancesingle nucleotide variantHereditary cancer-predisposing syndrome
  • rs377767381Uncertain significancesingle nucleotide variantJuvenile polyposis syndrome

Other listed variants

Public references

Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.