ACTBL2 — 68 ClinVar variants
All ClinVar germline ACTBL2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 66 flagged for review →
1 Benign · 1 Likely benign · 66 Uncertain significance
Full ACTBL2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 66
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.
- ACTBL2 p.Ala171Pro Uncertain significance Single submitter
- ACTBL2 p.Ala27Asp Uncertain significance Single submitter
- ACTBL2 p.Arg178Leu Uncertain significance Single submitter
- ACTBL2 p.Arg211Pro Uncertain significance Single submitter
- ACTBL2 p.Arg255Gly Uncertain significance Single submitter
- ACTBL2 p.Arg257Leu Uncertain significance Single submitter
- ACTBL2 p.Arg29Gly Uncertain significance Single submitter
- ACTBL2 p.Asn112Asp Uncertain significance Single submitter
- ACTBL2 p.Asp287Tyr Uncertain significance Single submitter
- ACTBL2 p.Cys53Tyr Uncertain significance Single submitter
- ACTBL2 p.Glu206Gly Uncertain significance Single submitter
- ACTBL2 p.Glu208Asp Uncertain significance Single submitter
- ACTBL2 p.Glu317Lys Uncertain significance Single submitter
- ACTBL2 p.Glu58Gln Uncertain significance Single submitter
- ACTBL2 p.Glu5Asp Uncertain significance Single submitter
- ACTBL2 p.Glu94Gly Uncertain significance Single submitter
- ACTBL2 p.Gly16Arg Uncertain significance Single submitter
- ACTBL2 p.Gly183Glu Uncertain significance Single submitter
- ACTBL2 p.Gly343Ala Uncertain significance Single submitter
- ACTBL2 p.Gly343Glu Uncertain significance Single submitter
- ACTBL2 p.Ile115Val Uncertain significance Single submitter
- ACTBL2 p.Ile270Leu Uncertain significance Single submitter
- ACTBL2 p.Ile342Phe Uncertain significance Single submitter
- ACTBL2 p.Leu294Arg Uncertain significance Single submitter
- ACTBL2 p.Met284Ile Uncertain significance Single submitter
- ACTBL2 p.Met35Ile Uncertain significance Single submitter
- ACTBL2 p.Pro165Ser Uncertain significance Single submitter
- ACTBL2 p.Pro265Ala Uncertain significance Single submitter
- ACTBL2 p.Tyr134His Uncertain significance Single submitter
- ACTBL2 p.Tyr167Cys Uncertain significance Single submitter
- ACTBL2 p.Tyr241Ser Uncertain significance Single submitter
- ACTBL2 p.Val11Ala Uncertain significance Single submitter
- ACTBL2 p.Val164Met Uncertain significance Single submitter
- ACTBL2 p.Val220Leu Uncertain significance Single submitter
- ACTBL2 p.Val55Leu Uncertain significance Single submitter
Predictors split 31
The independent predictors disagree with each other — read with care.
- ACTBL2 p.Ala171Ser Uncertain significance Single submitter
- ACTBL2 p.Ala171Val Uncertain significance Single submitter
- ACTBL2 p.Ala296Val Uncertain significance Single submitter
- ACTBL2 p.Ala30Ser Uncertain significance Single submitter
- ACTBL2 p.Ala322Thr Uncertain significance Single submitter
- ACTBL2 p.Arg207Leu Uncertain significance Single submitter
- ACTBL2 p.Arg211Gln Uncertain significance Single submitter
- ACTBL2 p.Asn281His Uncertain significance Single submitter
- ACTBL2 p.Asp287Asn Uncertain significance Single submitter
- ACTBL2 p.Asp81Asn Uncertain significance Single submitter
- ACTBL2 p.Glu101Asp Uncertain significance Single submitter
- ACTBL2 p.Glu101Lys Uncertain significance Single submitter
- ACTBL2 p.Gly47Ser Uncertain significance Single submitter
- ACTBL2 p.His102Tyr Uncertain significance Single submitter
- ACTBL2 p.Ile123Thr Uncertain significance Single submitter
- ACTBL2 p.Ile193Val Uncertain significance Single submitter
- ACTBL2 p.Ile209Val Uncertain significance Single submitter
- ACTBL2 p.Ile290Met Uncertain significance Single submitter
- ACTBL2 p.Ile342Met Uncertain significance Single submitter
- ACTBL2 p.Ile370Val Uncertain significance Single submitter
- ACTBL2 p.Leu321Arg Uncertain significance Single submitter
- ACTBL2 p.Met284Thr Uncertain significance Single submitter
- ACTBL2 p.Met306Thr Uncertain significance Single submitter
- ACTBL2 p.Met356Leu Uncertain significance Single submitter
- ACTBL2 p.Pro103Ser Uncertain significance Single submitter
- ACTBL2 p.Pro131Ser Uncertain significance Single submitter
- ACTBL2 p.Pro173Thr Uncertain significance Single submitter
- ACTBL2 p.Pro323Ser Uncertain significance Single submitter
- ACTBL2 p.Pro99Ser Uncertain significance Single submitter
- ACTBL2 p.Thr352Ala Uncertain significance Single submitter
- ACTBL2 p.Val371Ile Uncertain significance Single submitter
All ACTBL2 variants
Benign 1
- p.Cys18= Single submitter
Likely benign 1
- p.Pro237Leu Single submitter
Uncertain significance 66
- p.Ala171Pro Single submitter ⚠
- p.Ala171Ser Single submitter ⚠
- p.Ala171Val Single submitter ⚠
- p.Ala27Asp Single submitter ⚠
- p.Ala296Val Single submitter ⚠
- p.Ala30Ser Single submitter ⚠
- p.Ala322Thr Single submitter ⚠
- p.Arg178Leu Single submitter ⚠
- p.Arg207Leu Single submitter ⚠
- p.Arg211Gln Single submitter ⚠
- p.Arg211Pro Single submitter ⚠
- p.Arg255Gly Single submitter ⚠
- p.Arg257Leu Single submitter ⚠
- p.Arg29Gly Single submitter ⚠
- p.Asn112Asp Single submitter ⚠
- p.Asn281His Single submitter ⚠
- p.Asp287Asn Single submitter ⚠
- p.Asp287Tyr Single submitter ⚠
- p.Asp81Asn Single submitter ⚠
- p.Cys53Tyr Single submitter ⚠
- p.Glu101Asp Single submitter ⚠
- p.Glu101Lys Single submitter ⚠
- p.Glu206Gly Single submitter ⚠
- p.Glu208Asp Single submitter ⚠
- p.Glu317Lys Single submitter ⚠
- p.Glu58Gln Single submitter ⚠
- p.Glu5Asp Single submitter ⚠
- p.Glu94Gly Single submitter ⚠
- p.Gly16Arg Single submitter ⚠
- p.Gly183Glu Single submitter ⚠
- p.Gly343Ala Single submitter ⚠
- p.Gly343Glu Single submitter ⚠
- p.Gly47Ser Single submitter ⚠
- p.His102Tyr Single submitter ⚠
- p.Ile115Val Single submitter ⚠
- p.Ile123Thr Single submitter ⚠
- p.Ile193Val Single submitter ⚠
- p.Ile209Val Single submitter ⚠
- p.Ile270Leu Single submitter ⚠
- p.Ile290Met Single submitter ⚠
- p.Ile342Met Single submitter ⚠
- p.Ile342Phe Single submitter ⚠
- p.Ile370Val Single submitter ⚠
- p.Leu294Arg Single submitter ⚠
- p.Leu321Arg Single submitter ⚠
- p.Met284Ile Single submitter ⚠
- p.Met284Thr Single submitter ⚠
- p.Met306Thr Single submitter ⚠
- p.Met356Leu Single submitter ⚠
- p.Met35Ile Single submitter ⚠
- p.Pro103Ser Single submitter ⚠
- p.Pro131Ser Single submitter ⚠
- p.Pro165Ser Single submitter ⚠
- p.Pro173Thr Single submitter ⚠
- p.Pro265Ala Single submitter ⚠
- p.Pro323Ser Single submitter ⚠
- p.Pro99Ser Single submitter ⚠
- p.Thr352Ala Single submitter ⚠
- p.Tyr134His Single submitter ⚠
- p.Tyr167Cys Single submitter ⚠
- p.Tyr241Ser Single submitter ⚠
- p.Val11Ala Single submitter ⚠
- p.Val164Met Single submitter ⚠
- p.Val220Leu Single submitter ⚠
- p.Val371Ile Single submitter ⚠
- p.Val55Leu Single submitter ⚠