ACTRT2 — 67 ClinVar variants
All ClinVar germline ACTRT2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 59 flagged for review →
4 Likely benign · 63 Uncertain significance
Full ACTRT2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 59
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 38
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACTRT2 p.Ala135Val Uncertain significance Single submitter
- ACTRT2 p.Ala224Asp Uncertain significance Single submitter
- ACTRT2 p.Ala23Val Uncertain significance Single submitter
- ACTRT2 p.Ala259Gly Uncertain significance Single submitter
- ACTRT2 p.Ala361Thr Uncertain significance Single submitter
- ACTRT2 p.Ala6Thr Uncertain significance Single submitter
- ACTRT2 p.Arg187Lys Uncertain significance Single submitter
- ACTRT2 p.Arg314Gln Uncertain significance Single submitter
- ACTRT2 p.Arg77His Uncertain significance Single submitter
- ACTRT2 p.Asp104His Uncertain significance Single submitter
- ACTRT2 p.Asp15Gly Uncertain significance Single submitter
- ACTRT2 p.Gln321His Uncertain significance Single submitter
- ACTRT2 p.Glu118Asp Uncertain significance Single submitter
- ACTRT2 p.Glu228Lys Uncertain significance Single submitter
- ACTRT2 p.Glu261Lys Uncertain significance Single submitter
- ACTRT2 p.Glu76Gln Uncertain significance Single submitter
- ACTRT2 p.Gly154Asp Uncertain significance Single submitter
- ACTRT2 p.Gly160Arg Uncertain significance Single submitter
- ACTRT2 p.Gly253Arg Uncertain significance Single submitter
- ACTRT2 p.Leu69Met Uncertain significance Single submitter
- ACTRT2 p.Phe29Ser Uncertain significance Single submitter
- ACTRT2 p.Pro10Arg Uncertain significance Single submitter
- ACTRT2 p.Pro235Leu Uncertain significance Single submitter
- ACTRT2 p.Pro255Leu Uncertain significance Single submitter
- ACTRT2 p.Pro47Ser Uncertain significance Single submitter
- ACTRT2 p.Pro4Leu Uncertain significance Single submitter
- ACTRT2 p.Pro74Arg Uncertain significance Single submitter
- ACTRT2 p.Ser113Cys Uncertain significance Single submitter
- ACTRT2 p.Thr289Ser Uncertain significance Single submitter
- ACTRT2 p.Trp342Cys Uncertain significance Single submitter
- ACTRT2 p.Trp342Leu Uncertain significance Single submitter
- ACTRT2 p.Trp83Arg Uncertain significance Single submitter
- ACTRT2 p.Val167Asp Uncertain significance Single submitter
- ACTRT2 p.Val184Met Uncertain significance Single submitter
- ACTRT2 p.Val223Met Uncertain significance Single submitter
- ACTRT2 p.Val265Met Uncertain significance Single submitter
- ACTRT2 p.Val372Leu Uncertain significance Single submitter
- ACTRT2 p.Val86Ala Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- ACTRT2 p.Ala178Thr Uncertain significance Single submitter
- ACTRT2 p.Ala259Val Uncertain significance Single submitter
- ACTRT2 p.Ala323Thr Uncertain significance Single submitter
- ACTRT2 p.Arg120His Uncertain significance Single submitter
- ACTRT2 p.Arg233Trp Uncertain significance Single submitter
- ACTRT2 p.Glu111Asp Uncertain significance Single submitter
- ACTRT2 p.Glu76Lys Uncertain significance Single submitter
- ACTRT2 p.Leu108Phe Uncertain significance Single submitter
- ACTRT2 p.Lys286Glu Uncertain significance Single submitter
- ACTRT2 p.Phe131Ile Uncertain significance Single submitter
- ACTRT2 p.Phe204Leu Uncertain significance Single submitter
- ACTRT2 p.Phe57Ser Uncertain significance Single submitter
- ACTRT2 p.Pro116Leu Uncertain significance Single submitter
- ACTRT2 p.Ser302Leu Uncertain significance Single submitter
- ACTRT2 p.Thr153Met Uncertain significance Single submitter
- ACTRT2 p.Thr190Met Uncertain significance Single submitter
- ACTRT2 p.Val133Met Uncertain significance Single submitter
- ACTRT2 p.Val213Leu Uncertain significance Single submitter
- ACTRT2 p.Val300Met Uncertain significance Single submitter
- ACTRT2 p.Val39Met Uncertain significance Single submitter
- ACTRT2 p.Val58Leu Uncertain significance Single submitter
All ACTRT2 variants
Likely benign 4
- p.Ala361= Single submitter
- p.Asp326Gly Single submitter
- p.Ile249Val Single submitter
- p.Ser200= Single submitter
Uncertain significance 63
- p.Ala135Val Single submitter ⚠
- p.Ala178Thr Single submitter ⚠
- p.Ala224Asp Single submitter ⚠
- p.Ala23Val Single submitter ⚠
- p.Ala259Gly Single submitter ⚠
- p.Ala259Val Single submitter ⚠
- p.Ala323Thr Single submitter ⚠
- p.Ala361Thr Single submitter ⚠
- p.Ala6Thr Single submitter ⚠
- p.Arg120His Single submitter ⚠
- p.Arg187Lys Single submitter ⚠
- p.Arg233Trp Single submitter ⚠
- p.Arg314Gln Single submitter ⚠
- p.Arg77His Single submitter ⚠
- p.Asp104His Single submitter ⚠
- p.Asp15Gly Single submitter ⚠
- p.Gln321His Single submitter ⚠
- p.Glu111Asp Single submitter ⚠
- p.Glu118Asp Single submitter ⚠
- p.Glu228Lys Single submitter ⚠
- p.Glu261Lys Single submitter ⚠
- p.Glu76Gln Single submitter ⚠
- p.Glu76Lys Single submitter ⚠
- p.Gly154Asp Single submitter ⚠
- p.Gly160Arg Single submitter ⚠
- p.Gly253Arg Single submitter ⚠
- p.Gly310Arg Single submitter
- p.Ile299Thr Single submitter
- p.Leu108Phe Single submitter ⚠
- p.Leu69Met Single submitter ⚠
- p.Lys286Glu Single submitter ⚠
- p.Phe131Ile Single submitter ⚠
- p.Phe204Leu Single submitter ⚠
- p.Phe29Ser Single submitter ⚠
- p.Phe57Ser Single submitter ⚠
- p.Pro10Arg Single submitter ⚠
- p.Pro116Leu Single submitter ⚠
- p.Pro235Leu Single submitter ⚠
- p.Pro255Leu Single submitter ⚠
- p.Pro47Ser Single submitter ⚠
- p.Pro4Leu Single submitter ⚠
- p.Pro74Arg Single submitter ⚠
- p.Ser113Cys Single submitter ⚠
- p.Ser302Leu Single submitter ⚠
- p.Thr153Met Single submitter ⚠
- p.Thr190Met Single submitter ⚠
- p.Thr289Ser Single submitter ⚠
- p.Trp342Cys Single submitter ⚠
- p.Trp342Leu Single submitter ⚠
- p.Trp83Arg Single submitter ⚠
- p.Val133Ala Single submitter
- p.Val133Met Single submitter ⚠
- p.Val167Asp Single submitter ⚠
- p.Val167Leu Single submitter
- p.Val184Met Single submitter ⚠
- p.Val213Leu Single submitter ⚠
- p.Val223Met Single submitter ⚠
- p.Val265Met Single submitter ⚠
- p.Val300Met Single submitter ⚠
- p.Val372Leu Single submitter ⚠
- p.Val39Met Single submitter ⚠
- p.Val58Leu Single submitter ⚠
- p.Val86Ala Single submitter ⚠