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Gene entry

TGFBR2

transforming growth factor beta receptor 2

Chromosome
3
Cytoband
3p24.1
Variants (rsID)
125

TGFBR2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3p24.1). Its official name is “transforming growth factor beta receptor 2”. The reference table lists 125 variants (rsID) for this gene.

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Clinically classified variants

68 reference-table entries with clinical significance.

  • rs11466511Benignsingle nucleotide variant
  • rs1155705Benignsingle nucleotide variantLoeys-Dietz syndrome|Marfan syndrome|Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome 2
  • rs12493607Benignsingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection
  • rs139881155Benignsingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype
  • rs1803446Benignsingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome|Marfan syndrome
  • rs2228048Benignsingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Loeys-Dietz syndrome|Cardiovascular phenotype|Loeys-Dietz syndrome 2
  • rs104893813Conflicting interpretationssingle nucleotide variantLoeys-Dietz syndrome 2|Loeys-Dietz syndrome|Colorectal cancer, hereditary nonpolyposis, type 6|Familial thoracic aortic aneurysm and aortic dissection
  • rs112215250Conflicting interpretationssingle nucleotide variantCongenital aneurysm of ascending aorta|Loeys-Dietz syndrome|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Cardiovascular phenotype|Connective tissue disorder|Loeys-Dietz syndrome 2|Ehlers-Danlos syndrome
  • rs193922660Conflicting interpretationssingle nucleotide variantLoeys-Dietz syndrome|Familial thoracic aortic aneurysm and aortic dissection
  • rs193922665Conflicting interpretationssingle nucleotide variantLoeys-Dietz syndrome|Familial thoracic aortic aneurysm and aortic dissection
  • rs199660234Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection
  • rs34833812Conflicting interpretationssingle nucleotide variantColorectal cancer, hereditary nonpolyposis, type 6|Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome|Marfan syndrome|Familial colorectal cancer|Cardiovascular phenotype|Loeys-Dietz syndrome 2|Ehlers-Danlos syndrome
  • rs35719192Conflicting interpretationssingle nucleotide variantLoeys-Dietz syndrome|Familial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Cardiovascular phenotype|Connective tissue disorder|Ehlers-Danlos syndrome
  • rs35766612Conflicting interpretationssingle nucleotide variantLoeys-Dietz syndrome|Familial thoracic aortic aneurysm and aortic dissection|Vascular dilatation|Ascending tubular aorta aneurysm|Cardiovascular phenotype|Ehlers-Danlos syndrome
  • rs377499122Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Ehlers-Danlos syndrome
  • rs727503476Conflicting interpretationssingle nucleotide variantLoeys-Dietz syndrome|Familial thoracic aortic aneurysm and aortic dissection
  • rs768385200Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Marfan syndrome|Loeys-Dietz syndrome
  • rs863223853Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Isolated thoracic aortic aneurysm
  • rs863223854Conflicting interpretationssingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection
  • rs61762550Likely benignsingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection
  • rs1057524810Likely pathogenicsingle nucleotide variant
  • rs1060501984Likely pathogenicsingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection
  • rs193922664Likely pathogenicsingle nucleotide variantLoeys-Dietz syndrome
  • rs397516840Likely pathogenicsingle nucleotide variantLoeys-Dietz syndrome
  • rs587782979Likely pathogenicsingle nucleotide variantLoeys-Dietz syndrome|Loeys-Dietz syndrome 2
  • rs727503475Likely pathogenicsingle nucleotide variantLoeys-Dietz syndrome
  • rs727503477Likely pathogenicsingle nucleotide variantLoeys-Dietz syndrome|Familial thoracic aortic aneurysm and aortic dissection
  • rs730880224Likely pathogenicsingle nucleotide variantLoeys-Dietz syndrome
  • rs863223841Likely pathogenicsingle nucleotide variant
  • rs863223842Likely pathogenicsingle nucleotide variant
  • rs863223843Likely pathogenicsingle nucleotide variant
  • rs863223847Likely pathogenicsingle nucleotide variant
  • rs863223848Likely pathogenicsingle nucleotide variant
  • rs863223850Likely pathogenicsingle nucleotide variant
  • rs863223851Likely pathogenicsingle nucleotide variant
  • rs869025537Likely pathogenicsingle nucleotide variantLoeys-Dietz syndrome
  • rs878854611Likely pathogenicDeletionFamilial thoracic aortic aneurysm and aortic dissection
  • rs104893807Pathogenicsingle nucleotide variantLoeys-Dietz syndrome 2
  • rs104893809Pathogenicsingle nucleotide variantLoeys-Dietz syndrome 2|Familial thoracic aortic aneurysm and aortic dissection
  • rs104893810Pathogenicsingle nucleotide variantLoeys-Dietz syndrome 2|Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome
  • rs104893811Pathogenicsingle nucleotide variantLoeys-Dietz syndrome 2|Cardiovascular phenotype|Familial thoracic aortic aneurysm and aortic dissection
  • rs104893812Pathogenicsingle nucleotide variantLoeys-Dietz syndrome 2
  • rs104893814Pathogenicsingle nucleotide variantLoeys-Dietz syndrome 2
  • rs104893815Pathogenicsingle nucleotide variantColorectal cancer, hereditary nonpolyposis, type 6|Loeys-Dietz syndrome 2|Loeys-Dietz syndrome|Familial thoracic aortic aneurysm and aortic dissection
  • rs104893816Pathogenicsingle nucleotide variantLoeys-Dietz syndrome 2|Familial thoracic aortic aneurysm and aortic dissection
  • rs104893818Pathogenicsingle nucleotide variantLoeys-Dietz syndrome 2
  • rs104893819Pathogenicsingle nucleotide variantLoeys-Dietz syndrome 2|Loeys-Dietz syndrome|Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome 2|Colorectal cancer, hereditary nonpolyposis, type 6|Malignant tumor of esophagus
  • rs121918714Pathogenicsingle nucleotide variantMalignant tumor of esophagus|Familial thoracic aortic aneurysm and aortic dissection
  • rs121918715Pathogenicsingle nucleotide variantLoeys-Dietz syndrome 2
  • rs28934568Pathogenicsingle nucleotide variantLoeys-Dietz syndrome 2
  • rs587776769PathogenicMicrosatelliteColorectal cancer, hereditary nonpolyposis, type 6
  • rs587776770Pathogenicsingle nucleotide variantLoeys-Dietz syndrome 2
  • rs727504292Pathogenicsingle nucleotide variantLoeys-Dietz syndrome|Loeys-Dietz syndrome 2|Familial thoracic aortic aneurysm and aortic dissection
  • rs863223849Pathogenicsingle nucleotide variant
  • rs863224935Pathogenicsingle nucleotide variantLoeys-Dietz syndrome 2|Cardiovascular phenotype
  • rs878854610Pathogenicsingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection
  • rs886038787Pathogenicsingle nucleotide variantCardiovascular phenotype
  • rs886038794Pathogenicsingle nucleotide variantCardiovascular phenotype|Loeys-Dietz syndrome 2
  • rs886038847Pathogenicsingle nucleotide variantCardiovascular phenotype
  • rs886039106Pathogenicsingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection
  • rs886039551Pathogenicsingle nucleotide variantLoeys-Dietz syndrome 1|Familial thoracic aortic aneurysm and aortic dissection|Loeys-Dietz syndrome 2
  • rs104893817Uncertain significancesingle nucleotide variantLoeys-Dietz syndrome 2|Familial thoracic aortic aneurysm and aortic dissection
  • rs112465572Uncertain significancesingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection
  • rs189119533Uncertain significancesingle nucleotide variant
  • rs193922661Uncertain significancesingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection
  • rs193922662Uncertain significancesingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection
  • rs200361387Uncertain significancesingle nucleotide variantFamilial thoracic aortic aneurysm and aortic dissection|Malignant tumor of esophagus|Colorectal cancer, hereditary nonpolyposis, type 6|Loeys-Dietz syndrome 2
  • rs863223844Uncertain significancesingle nucleotide variant

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.