SMURF2 — 66 ClinVar variants
All ClinVar germline SMURF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 48 flagged for review →
6 Benign · 9 Likely benign · 51 Uncertain significance
Full SMURF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 48
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 35
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SMURF2 p.Ala218Thr Uncertain significance Single submitter
- SMURF2 p.Ala600Val Uncertain significance Single submitter
- SMURF2 p.Arg141Gln Uncertain significance Single submitter
- SMURF2 p.Arg153His Uncertain significance Single submitter
- SMURF2 p.Arg187Cys Uncertain significance Single submitter
- SMURF2 p.Arg370Gly Uncertain significance Single submitter
- SMURF2 p.Arg421Gln Uncertain significance Single submitter
- SMURF2 p.Arg642Trp Uncertain significance Single submitter
- SMURF2 p.Asn292Asp Uncertain significance Single submitter
- SMURF2 p.Asn320Asp Uncertain significance Single submitter
- SMURF2 p.Asn718Thr Uncertain significance Single submitter
- SMURF2 p.Asp501Val Uncertain significance Single submitter
- SMURF2 p.Gln222Pro Uncertain significance Single submitter
- SMURF2 p.Gln381His Uncertain significance Single submitter
- SMURF2 p.Glu405Gly Uncertain significance Single submitter
- SMURF2 p.Gly143Ser Uncertain significance Single submitter
- SMURF2 p.Gly217Arg Uncertain significance Single submitter
- SMURF2 p.Ile132Leu Uncertain significance Single submitter
- SMURF2 p.Ile517Val Uncertain significance Single submitter
- SMURF2 p.Leu100His Uncertain significance Single submitter
- SMURF2 p.Leu176Val Uncertain significance Single submitter
- SMURF2 p.Leu334Met Uncertain significance Single submitter
- SMURF2 p.Lys108Arg Uncertain significance Single submitter
- SMURF2 p.Pro160Leu Uncertain significance Single submitter
- SMURF2 p.Pro160Thr Uncertain significance Single submitter
- SMURF2 p.Pro226Leu Uncertain significance Single submitter
- SMURF2 p.Pro471Ser Uncertain significance Single submitter
- SMURF2 p.Pro724Ser Uncertain significance Single submitter
- SMURF2 p.Ser223Cys Uncertain significance Single submitter
- SMURF2 p.Ser473Cys Uncertain significance Single submitter
- SMURF2 p.Thr360Pro Uncertain significance Single submitter
- SMURF2 p.Thr548Ile Uncertain significance Single submitter
- SMURF2 p.Val316Ile Uncertain significance Single submitter
- SMURF2 p.Val352Met Uncertain significance Single submitter
- SMURF2 p.Val582Gly Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- SMURF2 p.Ala37Val Uncertain significance Single submitter
- SMURF2 p.Ala705Asp Uncertain significance Single submitter
- SMURF2 p.Arg106His Uncertain significance Single submitter
- SMURF2 p.Arg231Lys Uncertain significance Single submitter
- SMURF2 p.Arg237Gln Uncertain significance Single submitter
- SMURF2 p.Arg340Trp Uncertain significance Single submitter
- SMURF2 p.Asn157Lys Uncertain significance Single submitter
- SMURF2 p.Asp156Tyr Uncertain significance Single submitter
- SMURF2 p.Asp664Gly Uncertain significance Single submitter
- SMURF2 p.Gly146Glu Uncertain significance Single submitter
- SMURF2 p.Val133Leu Uncertain significance Single submitter
- SMURF2 p.Val410Phe Uncertain significance Single submitter
- SMURF2 p.Val747Glu Uncertain significance Single submitter
All SMURF2 variants
Benign 6
- p.Ile652= Multiple submitters
- p.Phe315= Multiple submitters
- p.Asn105Ser Single submitter
- p.Asn292Ser Single submitter
- p.Glu208= No assertion criteria SMURF2-related disorder
- p.Leu120= No assertion criteria SMURF2-related disorder
Likely benign 9
- p.Leu67= Single submitter
- c.1016+10T>C No assertion criteria SMURF2-related disorder
- c.858-4G>T No assertion criteria SMURF2-related disorder
- p.Gly302= No assertion criteria SMURF2-related disorder
- p.Pro191= No assertion criteria SMURF2-related disorder
- p.Ser78= No assertion criteria SMURF2-related disorder
- p.Thr168= No assertion criteria SMURF2-related disorder
- p.Thr466= No assertion criteria SMURF2-related disorder
- p.Thr616Ala No assertion criteria SMURF2-related disorder
Uncertain significance 51
- p.Ala218Thr Single submitter ⚠
- p.Ala37Val Single submitter ⚠
- p.Ala600Val Single submitter ⚠
- p.Ala705Asp Single submitter ⚠
- p.Arg106His Single submitter ⚠
- p.Arg141Gln Single submitter ⚠
- p.Arg153His Single submitter ⚠
- p.Arg187Cys Single submitter ⚠
- p.Arg231Lys Single submitter ⚠
- p.Arg237Gln Single submitter ⚠
- p.Arg340Trp Single submitter ⚠
- p.Arg370Gly Single submitter ⚠
- p.Arg421Gln Single submitter ⚠
- p.Arg642Trp Single submitter ⚠
- p.Asn157Lys Single submitter ⚠
- p.Asn292Asp Single submitter ⚠
- p.Asn320Asp Single submitter ⚠
- p.Asn718Thr Single submitter ⚠
- p.Asp156Tyr Single submitter ⚠
- p.Asp501Val Single submitter ⚠
- p.Asp664Gly Single submitter ⚠
- p.Gln222Pro Single submitter ⚠
- p.Gln381His Single submitter ⚠
- p.Gln602Arg Single submitter
- p.Glu405Gly Single submitter ⚠
- p.Gly143Ser Single submitter ⚠
- p.Gly146Glu Single submitter ⚠
- p.Gly217Arg Single submitter ⚠
- p.His64Tyr Single submitter
- p.Ile132Leu Single submitter ⚠
- p.Ile517Val Single submitter ⚠
- p.Ile703Met Single submitter
- p.Leu100His Single submitter ⚠
- p.Leu176Val Single submitter ⚠
- p.Leu334Met Single submitter ⚠
- p.Lys108Arg Single submitter ⚠
- p.Pro160Leu Single submitter ⚠
- p.Pro160Thr Single submitter ⚠
- p.Pro226Leu Single submitter ⚠
- p.Pro471Ser Single submitter ⚠
- p.Pro724Ser Single submitter ⚠
- p.Ser223Cys Single submitter ⚠
- p.Ser473Cys Single submitter ⚠
- p.Thr360Pro Single submitter ⚠
- p.Thr548Ile Single submitter ⚠
- p.Val133Leu Single submitter ⚠
- p.Val316Ile Single submitter ⚠
- p.Val352Met Single submitter ⚠
- p.Val410Phe Single submitter ⚠
- p.Val582Gly Single submitter ⚠
- p.Val747Glu Single submitter ⚠