TGFBR3 — 130 ClinVar variants
All ClinVar germline TGFBR3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 90 flagged for review →
10 Benign · 3 Benign/Likely benign · 21 Likely benign · 96 Uncertain significance
Full TGFBR3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 90
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 lean, ClinVar uncertain 78
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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TGFBR3 p.Asp255Glu
Uncertain significance
Multiple submitters
familial thoracic aortic aneurysm and aortic dissection
- TGFBR3 p.Ala11Val Uncertain significance Single submitter
- TGFBR3 p.Ala217Thr Uncertain significance Single submitter
- TGFBR3 p.Ala729Val Uncertain significance Single submitter
- TGFBR3 p.Ala735Thr Uncertain significance Single submitter
- TGFBR3 p.Ala804Ser Uncertain significance Single submitter
- TGFBR3 p.Arg151Gly Uncertain significance Single submitter
- TGFBR3 p.Arg354Gln Uncertain significance Single submitter
- TGFBR3 p.Arg392Trp Uncertain significance Single submitter
- TGFBR3 p.Arg411Gly Uncertain significance Single submitter
- TGFBR3 p.Arg411Lys Uncertain significance Single submitter
- TGFBR3 p.Arg423Gln Uncertain significance Single submitter
- TGFBR3 p.Arg423Trp Uncertain significance Single submitter
- TGFBR3 p.Arg439Gly Uncertain significance Single submitter
- TGFBR3 p.Arg508Gln Uncertain significance Single submitter
- TGFBR3 p.Arg508Trp Uncertain significance Single submitter
- TGFBR3 p.Arg510Gln Uncertain significance Single submitter
- TGFBR3 p.Arg510Trp Uncertain significance Single submitter
- TGFBR3 p.Arg673Thr Uncertain significance Single submitter
- TGFBR3 p.Asn326Tyr Uncertain significance Single submitter
- TGFBR3 p.Asn388Ile Uncertain significance Single submitter
- TGFBR3 p.Asn646Ser Uncertain significance Single submitter
- TGFBR3 p.Asp287Asn Uncertain significance Single submitter
- TGFBR3 p.Asp727Glu Uncertain significance Single submitter
- TGFBR3 p.Gln136Arg Uncertain significance Single submitter
- TGFBR3 p.Gln226Lys Uncertain significance Single submitter
- TGFBR3 p.Gln387Arg Uncertain significance Single submitter
- TGFBR3 p.Gln584His Uncertain significance Single submitter
- TGFBR3 p.Glu29Gln Uncertain significance Single submitter
- TGFBR3 p.Glu356Ala Uncertain significance Single submitter
- TGFBR3 p.Glu361Ala Uncertain significance Single submitter
- TGFBR3 p.Glu728Lys Uncertain significance Single submitter
- TGFBR3 p.Gly169Arg Uncertain significance Single submitter
- TGFBR3 p.Gly838Ser Uncertain significance Single submitter
- TGFBR3 p.His113Gln Uncertain significance Single submitter
- TGFBR3 p.His756Tyr Uncertain significance Single submitter
- TGFBR3 p.His811Tyr Uncertain significance Single submitter
- TGFBR3 p.Ile199Met Uncertain significance Single submitter
- TGFBR3 p.Ile432Thr Uncertain significance Single submitter
- TGFBR3 p.Ile737Leu Uncertain significance Single submitter
- TGFBR3 p.Leu204Val Uncertain significance Single submitter
- TGFBR3 p.Leu206Ile Uncertain significance Single submitter
- TGFBR3 p.Leu434Gln Uncertain significance Single submitter
- TGFBR3 p.Leu79Gln Uncertain significance Single submitter
- TGFBR3 p.Lys490Arg Uncertain significance Single submitter
- TGFBR3 p.Lys672Glu Uncertain significance Single submitter
- TGFBR3 p.Met13Val Uncertain significance Single submitter
- TGFBR3 p.Met362Leu Uncertain significance Single submitter
- TGFBR3 p.Met478Leu Uncertain significance Single submitter
- TGFBR3 p.Met713Ile Uncertain significance Single submitter
- TGFBR3 p.Met788Leu Uncertain significance Single submitter
- TGFBR3 p.Phe603Cys Uncertain significance Single submitter
- TGFBR3 p.Pro372Ser Uncertain significance Single submitter
- TGFBR3 p.Pro380Leu Uncertain significance Single submitter
- TGFBR3 p.Pro389Leu Uncertain significance Single submitter
- TGFBR3 p.Pro406Ala Uncertain significance Single submitter
- TGFBR3 p.Pro528Gln Uncertain significance Single submitter
- TGFBR3 p.Pro537Leu Uncertain significance Single submitter
- TGFBR3 p.Pro551Leu Uncertain significance Single submitter
- TGFBR3 p.Pro677Ser Uncertain significance Single submitter
- TGFBR3 p.Pro679Leu Uncertain significance Single submitter
- TGFBR3 p.Pro776Gln Uncertain significance Single submitter
- TGFBR3 p.Ser124Ala Uncertain significance Single submitter
- TGFBR3 p.Thr47Ala Uncertain significance Single submitter
- TGFBR3 p.Thr563Pro Uncertain significance Single submitter
- TGFBR3 p.Thr708Met Uncertain significance Single submitter
- TGFBR3 p.Thr711Arg Uncertain significance Single submitter
- TGFBR3 p.Thr711Met Uncertain significance Single submitter
-
TGFBR3 p.Thr840Met
Uncertain significance
Single submitter
infertility disorder
- TGFBR3 p.Thr850Met Uncertain significance Single submitter
- TGFBR3 p.Val111Leu Uncertain significance Single submitter
- TGFBR3 p.Val288Asp Uncertain significance Single submitter
- TGFBR3 p.Val288Ile Uncertain significance Single submitter
- TGFBR3 p.Val367Ala Uncertain significance Single submitter
- TGFBR3 p.Val480Ile Uncertain significance Single submitter
- TGFBR3 p.Val568Met Uncertain significance Single submitter
- TGFBR3 p.Val610Ile Uncertain significance Single submitter
- TGFBR3 p.Val821Leu Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- TGFBR3 p.Glu176Lys Uncertain significance Single submitter
- TGFBR3 p.Glu657Lys Uncertain significance Single submitter
- TGFBR3 p.Gly506Ser Uncertain significance Single submitter
- TGFBR3 p.Gly535Asp Uncertain significance Single submitter
- TGFBR3 p.Gly789Val Uncertain significance Single submitter
- TGFBR3 p.Lys746Thr Uncertain significance Single submitter
- TGFBR3 p.Phe153Leu Uncertain significance Single submitter
- TGFBR3 p.Phe611Leu Uncertain significance Single submitter
- TGFBR3 p.Phe640Cys Uncertain significance Single submitter
- TGFBR3 p.Ser849Arg Uncertain significance Single submitter
- TGFBR3 p.Tyr336Cys Uncertain significance Single submitter
- TGFBR3 p.Val787Ala Uncertain significance Single submitter
All TGFBR3 variants
Benign 10
- p.Ala72= Multiple submitters
- p.Gly765Arg Multiple submitters
- p.Ile376= Multiple submitters
- p.Asn590= No assertion criteria TGFBR3-related disorder
- p.Phe676= No assertion criteria TGFBR3-related disorder
- p.Pro402= No assertion criteria TGFBR3-related disorder
- p.Ser15Phe No assertion criteria TGFBR3-related disorder
- p.Ser173= No assertion criteria TGFBR3-related disorder
- p.Ser447= No assertion criteria TGFBR3-related disorder
- p.Thr749= No assertion criteria TGFBR3-related disorder
Benign/Likely benign 3
- p.Met312Thr Multiple submitters connective tissue disorder
- p.Pro777Ser Multiple submitters familial thoracic aortic aneurysm and aortic dissection
- p.Thr19Ala Multiple submitters familial thoracic aortic aneurysm and aortic dissection
Likely benign 21
- p.His155Arg Multiple submitters
- c.1076-16CTT[2] Single submitter connective tissue disorder
- c.385-20C>T Single submitter familial thoracic aortic aneurysm and aortic dissection
- p.Arg151= Single submitter familial thoracic aortic aneurysm and aortic dissection
- p.Arg165Gln Single submitter
- p.Asp734= Single submitter
- p.Glu147Lys Single submitter
- p.Gly156Arg Single submitter connective tissue disorder
- p.Gly549= Single submitter
- p.Gly589Arg Single submitter
- p.His159= Single submitter connective tissue disorder
- p.Met344Val Single submitter
- p.Val135= Single submitter
- p.Val448Met Single submitter
- c.1866+6A>T No assertion criteria TGFBR3-related disorder
- c.2330-3T>C No assertion criteria TGFBR3-related disorder
- p.Gly609= No assertion criteria TGFBR3-related disorder
- p.Ile790Phe No assertion criteria TGFBR3-related disorder
- p.Phe351Ile No assertion criteria TGFBR3-related disorder
- p.Ser14Asn No assertion criteria TGFBR3-related disorder
- p.Thr747= No assertion criteria TGFBR3-related disorder
Uncertain significance 96
- p.Asp255Glu Multiple submitters familial thoracic aortic aneurysm and aortic dissection ⚠
- p.Ala11Val Single submitter ⚠
- p.Ala217Thr Single submitter ⚠
- p.Ala729Val Single submitter ⚠
- p.Ala735Thr Single submitter ⚠
- p.Ala804Ser Single submitter ⚠
- p.Arg151Gly Single submitter ⚠
- p.Arg354Gln Single submitter ⚠
- p.Arg392Trp Single submitter ⚠
- p.Arg411Gly Single submitter ⚠
- p.Arg411Lys Single submitter ⚠
- p.Arg423Gln Single submitter ⚠
- p.Arg423Trp Single submitter ⚠
- p.Arg439Gly Single submitter ⚠
- p.Arg508Gln Single submitter ⚠
- p.Arg508Trp Single submitter ⚠
- p.Arg510Gln Single submitter ⚠
- p.Arg510Trp Single submitter ⚠
- p.Arg673Thr Single submitter ⚠
- p.Asn326Tyr Single submitter ⚠
- p.Asn388Ile Single submitter ⚠
- p.Asn646Ser Single submitter ⚠
- p.Asp287Asn Single submitter ⚠
- p.Asp727Glu Single submitter ⚠
- p.Gln136Arg Single submitter ⚠
- p.Gln226Lys Single submitter ⚠
- p.Gln387Arg Single submitter ⚠
- p.Gln584His Single submitter ⚠
- p.Glu176Lys Single submitter ⚠
- p.Glu29Gln Single submitter ⚠
- p.Glu356Ala Single submitter ⚠
- p.Glu361Ala Single submitter ⚠
- p.Glu657Lys Single submitter ⚠
- p.Glu728Lys Single submitter ⚠
- p.Gly169Arg Single submitter ⚠
- p.Gly506Ser Single submitter ⚠
- p.Gly535Asp Single submitter ⚠
- p.Gly789Val Single submitter ⚠
- p.Gly838Ser Single submitter ⚠
- p.His113Gln Single submitter ⚠
- p.His756Tyr Single submitter ⚠
- p.His811Tyr Single submitter ⚠
- p.Ile199Met Single submitter ⚠
- p.Ile432Thr Single submitter ⚠
- p.Ile737Leu Single submitter ⚠
- p.Leu204Val Single submitter ⚠
- p.Leu206Ile Single submitter ⚠
- p.Leu206Pro Single submitter
- p.Leu434Gln Single submitter ⚠
- p.Leu79Gln Single submitter ⚠
- p.Lys490Arg Single submitter ⚠
- p.Lys672Glu Single submitter ⚠
- p.Lys746Thr Single submitter ⚠
- p.Met13Val Single submitter ⚠
- p.Met362Leu Single submitter ⚠
- p.Met478Leu Single submitter ⚠
- p.Met713Ile Single submitter ⚠
- p.Met788Leu Single submitter ⚠
- p.Phe153Leu Single submitter ⚠
- p.Phe570Val Single submitter
- p.Phe603Cys Single submitter ⚠
- p.Phe611Leu Single submitter ⚠
- p.Phe640Cys Single submitter ⚠
- p.Phe676Ser Single submitter connective tissue disorder
- p.Pro258Thr Single submitter
- p.Pro372Ser Single submitter ⚠
- p.Pro380Leu Single submitter ⚠
- p.Pro389Leu Single submitter ⚠
- p.Pro406Ala Single submitter ⚠
- p.Pro528Gln Single submitter ⚠
- p.Pro537Leu Single submitter ⚠
- p.Pro551Leu Single submitter ⚠
- p.Pro677Ser Single submitter ⚠
- p.Pro679Leu Single submitter ⚠
- p.Pro776Gln Single submitter ⚠
- p.Ser124Ala Single submitter ⚠
- p.Ser828Leu Single submitter
- p.Ser849Arg Single submitter ⚠
- p.Thr47Ala Single submitter ⚠
- p.Thr563Pro Single submitter ⚠
- p.Thr708Met Single submitter ⚠
- p.Thr711Arg Single submitter ⚠
- p.Thr711Met Single submitter ⚠
- p.Thr840Met Single submitter infertility disorder ⚠
- p.Thr850Met Single submitter ⚠
- p.Tyr336Cys Single submitter ⚠
- p.Val111Leu Single submitter ⚠
- p.Val288Asp Single submitter ⚠
- p.Val288Ile Single submitter ⚠
- p.Val367Ala Single submitter ⚠
- p.Val480Ile Single submitter ⚠
- p.Val568Met Single submitter ⚠
- p.Val610Ile Single submitter ⚠
- p.Val787Ala Single submitter ⚠
- p.Val821Leu Single submitter ⚠
- p.Trp806Ter No assertion criteria