SMURF1 — 62 ClinVar variants
All ClinVar germline SMURF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 52 flagged for review →
1 Benign · 3 Likely benign · 58 Uncertain significance
Full SMURF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 52
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 45
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SMURF1 c.806+408G>A Uncertain significance Single submitter
- SMURF1 c.806+413C>A Uncertain significance Single submitter
- SMURF1 p.Ala128Thr Uncertain significance Single submitter
- SMURF1 p.Arg218Gln Uncertain significance Single submitter
- SMURF1 p.Arg227Gln Uncertain significance Single submitter
- SMURF1 p.Arg243Thr Uncertain significance Single submitter
- SMURF1 p.Arg295Ser Uncertain significance Single submitter
- SMURF1 p.Arg563Trp Uncertain significance Single submitter
- SMURF1 p.Arg99Trp Uncertain significance Single submitter
- SMURF1 p.Asn586Ser Uncertain significance Single submitter
- SMURF1 p.Asp216Val Uncertain significance Single submitter
- SMURF1 p.Asp442Ala Uncertain significance Single submitter
- SMURF1 p.Gln208Arg Uncertain significance Single submitter
- SMURF1 p.Gln47Arg Uncertain significance Single submitter
- SMURF1 p.Gln64Arg Uncertain significance Single submitter
- SMURF1 p.Glu241Lys Uncertain significance Single submitter
- SMURF1 p.Glu342Gln Uncertain significance Single submitter
- SMURF1 p.Glu362Lys Uncertain significance Single submitter
- SMURF1 p.Gly146Ser Uncertain significance Single submitter
- SMURF1 p.Gly147Ser Uncertain significance Single submitter
- SMURF1 p.Gly167Arg Uncertain significance Single submitter
- SMURF1 p.Gly192Glu Uncertain significance Single submitter
- SMURF1 p.Gly573Glu Uncertain significance Single submitter
- SMURF1 p.His231Tyr Uncertain significance Single submitter
- SMURF1 p.His510Arg Uncertain significance Single submitter
- SMURF1 p.His542Tyr Uncertain significance Single submitter
- SMURF1 p.His83Arg Uncertain significance Single submitter
- SMURF1 p.Ile296Met Uncertain significance Single submitter
- SMURF1 p.Ile455Val Uncertain significance Single submitter
- SMURF1 p.Ile480Val Uncertain significance Single submitter
- SMURF1 p.Lys89Gln Uncertain significance Single submitter
- SMURF1 p.Met470Val Uncertain significance Single submitter
- SMURF1 p.Pro234Leu Uncertain significance Single submitter
- SMURF1 p.Pro326Ser Uncertain significance Single submitter
- SMURF1 p.Pro368Ser Uncertain significance Single submitter
- SMURF1 p.Pro451Leu Uncertain significance Single submitter
- SMURF1 p.Ser166Phe Uncertain significance Single submitter
- SMURF1 p.Ser202Asn Uncertain significance Single submitter
- SMURF1 p.Ser75Leu Uncertain significance Single submitter
- SMURF1 p.Thr161Met Uncertain significance Single submitter
- SMURF1 p.Thr73Met Uncertain significance Single submitter
- SMURF1 p.Trp286Cys Uncertain significance Single submitter
- SMURF1 p.Val134Ala Uncertain significance Single submitter
- SMURF1 p.Val149Met Uncertain significance Single submitter
- SMURF1 p.Val42Met Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- SMURF1 p.Arg32Lys Uncertain significance Single submitter
- SMURF1 p.Asn547Ser Uncertain significance Single submitter
- SMURF1 p.Gln138His Uncertain significance Single submitter
- SMURF1 p.Glu238Lys Uncertain significance Single submitter
- SMURF1 p.His478Asp Uncertain significance Single submitter
- SMURF1 p.Met393Ile Uncertain significance Single submitter
- SMURF1 p.Ser386Thr Uncertain significance Single submitter
All SMURF1 variants
Benign 1
- p.Ser166= Multiple submitters
Uncertain significance 58
- c.806+408G>A Single submitter ⚠
- c.806+413C>A Single submitter ⚠
- p.Ala128Thr Single submitter ⚠
- p.Arg218Gln Single submitter ⚠
- p.Arg227Gln Single submitter ⚠
- p.Arg243Thr Single submitter ⚠
- p.Arg295Ser Single submitter ⚠
- p.Arg32Lys Single submitter ⚠
- p.Arg563Trp Single submitter ⚠
- p.Arg99Trp Single submitter ⚠
- p.Asn481Tyr Single submitter
- p.Asn547Ser Single submitter ⚠
- p.Asn586Ser Single submitter ⚠
- p.Asp216Val Single submitter ⚠
- p.Asp442Ala Single submitter ⚠
- p.Gln138His Single submitter ⚠
- p.Gln208Arg Single submitter ⚠
- p.Gln389His Single submitter
- p.Gln47Arg Single submitter ⚠
- p.Gln64Arg Single submitter ⚠
- p.Glu238Lys Single submitter ⚠
- p.Glu241Lys Single submitter ⚠
- p.Glu342Gln Single submitter ⚠
- p.Glu362Lys Single submitter ⚠
- p.Gly146Ser Single submitter ⚠
- p.Gly147Ser Single submitter ⚠
- p.Gly167Arg Single submitter ⚠
- p.Gly192Glu Single submitter ⚠
- p.Gly573Glu Single submitter ⚠
- p.His231Tyr Single submitter ⚠
- p.His478Asp Single submitter ⚠
- p.His478Tyr Single submitter
- p.His510Arg Single submitter ⚠
- p.His542Tyr Single submitter ⚠
- p.His83Arg Single submitter ⚠
- p.Ile296Met Single submitter ⚠
- p.Ile455Val Single submitter ⚠
- p.Ile480Val Single submitter ⚠
- p.Lys559Thr Single submitter
- p.Lys89Gln Single submitter ⚠
- p.Met393Ile Single submitter ⚠
- p.Met470Val Single submitter ⚠
- p.Pro234Leu Single submitter ⚠
- p.Pro326Ser Single submitter ⚠
- p.Pro368Ser Single submitter ⚠
- p.Pro451Leu Single submitter ⚠
- p.Ser166Phe Single submitter ⚠
- p.Ser202Asn Single submitter ⚠
- p.Ser386Thr Single submitter ⚠
- p.Ser75Leu Single submitter ⚠
- p.Thr161Met Single submitter ⚠
- p.Thr73Met Single submitter ⚠
- p.Trp286Cys Single submitter ⚠
- p.Val134Ala Single submitter ⚠
- p.Val149Met Single submitter ⚠
- p.Val292Phe Single submitter
- p.Val42Met Single submitter ⚠
- p.Val474Met Single submitter