ACTL7B — 98 ClinVar variants
All ClinVar germline ACTL7B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 93 flagged for review →
2 Benign · 5 Likely benign · 91 Uncertain significance
Full ACTL7B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 93
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 49
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACTL7B p.Ala243Thr Uncertain significance Single submitter
- ACTL7B p.Ala28Val Uncertain significance Single submitter
- ACTL7B p.Ala2Val Uncertain significance Single submitter
- ACTL7B p.Ala36Gly Uncertain significance Single submitter
- ACTL7B p.Ala66Val Uncertain significance Single submitter
- ACTL7B p.Arg135Leu Uncertain significance Single submitter
- ACTL7B p.Arg23Pro Uncertain significance Single submitter
- ACTL7B p.Arg278Cys Uncertain significance Single submitter
- ACTL7B p.Arg31Gln Uncertain significance Single submitter
- ACTL7B p.Arg354Cys Uncertain significance Single submitter
- ACTL7B p.Arg93His Uncertain significance Single submitter
- ACTL7B p.Asp16Asn Uncertain significance Single submitter
- ACTL7B p.Asp27His Uncertain significance Single submitter
- ACTL7B p.Glu276Lys Uncertain significance Single submitter
- ACTL7B p.Gly11Ser Uncertain significance Single submitter
- ACTL7B p.Gly227Asp Uncertain significance Single submitter
- ACTL7B p.Gly343Ser Uncertain significance Single submitter
- ACTL7B p.Gly383Arg Uncertain significance Single submitter
- ACTL7B p.Gly407Asp Uncertain significance Single submitter
- ACTL7B p.Ile173Asn Uncertain significance Single submitter
- ACTL7B p.Ile251Val Uncertain significance Single submitter
- ACTL7B p.Ile289Thr Uncertain significance Single submitter
- ACTL7B p.Ile291Ser Uncertain significance Single submitter
- ACTL7B p.Ile291Val Uncertain significance Single submitter
- ACTL7B p.Ile411Val Uncertain significance Single submitter
- ACTL7B p.Leu10Arg Uncertain significance Single submitter
- ACTL7B p.Leu141Val Uncertain significance Single submitter
- ACTL7B p.Leu270Arg Uncertain significance Single submitter
- ACTL7B p.Leu341Arg Uncertain significance Single submitter
- ACTL7B p.Lys40Glu Uncertain significance Single submitter
- ACTL7B p.Lys48Asn Uncertain significance Single submitter
- ACTL7B p.Met176Lys Uncertain significance Single submitter
- ACTL7B p.Met41Val Uncertain significance Single submitter
- ACTL7B p.Pro114Ser Uncertain significance Single submitter
- ACTL7B p.Pro316Leu Uncertain significance Single submitter
- ACTL7B p.Pro43Arg Uncertain significance Single submitter
- ACTL7B p.Pro69Arg Uncertain significance Single submitter
- ACTL7B p.Pro71Ser Uncertain significance Single submitter
- ACTL7B p.Ser188Phe Uncertain significance Single submitter
- ACTL7B p.Ser210Phe Uncertain significance Single submitter
- ACTL7B p.Ser220Cys Uncertain significance Single submitter
- ACTL7B p.Ser379Phe Uncertain significance Single submitter
- ACTL7B p.Ser379Pro Uncertain significance Single submitter
- ACTL7B p.Ser76Phe Uncertain significance Single submitter
- ACTL7B p.Thr219Ile Uncertain significance Single submitter
- ACTL7B p.Thr219Ser Uncertain significance Single submitter
- ACTL7B p.Thr319Ala Uncertain significance Single submitter
- ACTL7B p.Trp381Arg Uncertain significance Single submitter
- ACTL7B p.Val46Leu Uncertain significance Single submitter
Predictors split 44
The independent predictors disagree with each other — read with care.
- ACTL7B p.Ala164Thr Uncertain significance Single submitter
- ACTL7B p.Ala240Val Uncertain significance Single submitter
- ACTL7B p.Ala388Ser Uncertain significance Single submitter
- ACTL7B p.Ala51Val Uncertain significance Single submitter
- ACTL7B p.Arg160Gln Uncertain significance Single submitter
- ACTL7B p.Arg160Trp Uncertain significance Single submitter
- ACTL7B p.Arg278His Uncertain significance Single submitter
- ACTL7B p.Arg44Met Uncertain significance Single submitter
- ACTL7B p.Asn159Lys Uncertain significance Single submitter
- ACTL7B p.Asn238Ser Uncertain significance Single submitter
- ACTL7B p.Asp122Asn Uncertain significance Single submitter
- ACTL7B p.Glu161Lys Uncertain significance Single submitter
- ACTL7B p.Glu165Lys Uncertain significance Single submitter
- ACTL7B p.Glu211Gly Uncertain significance Single submitter
- ACTL7B p.Glu282Lys Uncertain significance Single submitter
- ACTL7B p.Glu358Lys Uncertain significance Single submitter
- ACTL7B p.Glu402Asp Uncertain significance Single submitter
- ACTL7B p.Gly241Ser Uncertain significance Single submitter
- ACTL7B p.Gly286Ser Uncertain significance Single submitter
- ACTL7B p.His145Gln Uncertain significance Single submitter
- ACTL7B p.His248Tyr Uncertain significance Single submitter
- ACTL7B p.Leu109Phe Uncertain significance Single submitter
- ACTL7B p.Leu141Phe Uncertain significance Single submitter
- ACTL7B p.Leu148Met Uncertain significance Single submitter
- ACTL7B p.Leu218Pro Uncertain significance Single submitter
- ACTL7B p.Leu362Phe Uncertain significance Single submitter
- ACTL7B p.Lys377Asn Uncertain significance Single submitter
- ACTL7B p.Phe351Leu Uncertain significance Single submitter
- ACTL7B p.Pro142Ala Uncertain significance Single submitter
- ACTL7B p.Pro152Ser Uncertain significance Single submitter
- ACTL7B p.Pro156Leu Uncertain significance Single submitter
- ACTL7B p.Pro174Ser Uncertain significance Single submitter
- ACTL7B p.Pro274Leu Likely benign Single submitter
- ACTL7B p.Pro7His Uncertain significance Single submitter
- ACTL7B p.Ser185Cys Uncertain significance Single submitter
- ACTL7B p.Thr245Arg Uncertain significance Single submitter
- ACTL7B p.Tyr261Phe Uncertain significance Single submitter
- ACTL7B p.Tyr412Cys Uncertain significance Single submitter
- ACTL7B p.Val147Ala Uncertain significance Single submitter
- ACTL7B p.Val178Leu Uncertain significance Single submitter
- ACTL7B p.Val178Met Uncertain significance Single submitter
- ACTL7B p.Val197Leu Uncertain significance Single submitter
- ACTL7B p.Val52Ala Uncertain significance Single submitter
- ACTL7B p.Val52Leu Likely benign Single submitter
All ACTL7B variants
Benign 2
- p.Ala263= Multiple submitters
- p.Thr346Ser Single submitter
Likely benign 5
- p.Ala308Val Single submitter
- p.Pro274Leu Single submitter ⚠
- p.Thr311Asn Single submitter
- p.Val52Ile Single submitter
- p.Val52Leu Single submitter ⚠
Uncertain significance 91
- p.Ala164Thr Single submitter ⚠
- p.Ala240Val Single submitter ⚠
- p.Ala243Thr Single submitter ⚠
- p.Ala28Val Single submitter ⚠
- p.Ala2Val Single submitter ⚠
- p.Ala36Gly Single submitter ⚠
- p.Ala388Ser Single submitter ⚠
- p.Ala51Val Single submitter ⚠
- p.Ala66Val Single submitter ⚠
- p.Arg135Leu Single submitter ⚠
- p.Arg160Gln Single submitter ⚠
- p.Arg160Trp Single submitter ⚠
- p.Arg23Pro Single submitter ⚠
- p.Arg278Cys Single submitter ⚠
- p.Arg278His Single submitter ⚠
- p.Arg31Gln Single submitter ⚠
- p.Arg354Cys Single submitter ⚠
- p.Arg44Met Single submitter ⚠
- p.Arg93His Single submitter ⚠
- p.Asn159Lys Single submitter ⚠
- p.Asn238Ser Single submitter ⚠
- p.Asp122Asn Single submitter ⚠
- p.Asp16Asn Single submitter ⚠
- p.Asp27His Single submitter ⚠
- p.Glu161Lys Single submitter ⚠
- p.Glu165Lys Single submitter ⚠
- p.Glu211Gly Single submitter ⚠
- p.Glu276Lys Single submitter ⚠
- p.Glu282Lys Single submitter ⚠
- p.Glu358Lys Single submitter ⚠
- p.Glu402Asp Single submitter ⚠
- p.Gly11Ser Single submitter ⚠
- p.Gly227Asp Single submitter ⚠
- p.Gly241Ser Single submitter ⚠
- p.Gly286Ser Single submitter ⚠
- p.Gly343Ser Single submitter ⚠
- p.Gly383Arg Single submitter ⚠
- p.Gly407Asp Single submitter ⚠
- p.His145Gln Single submitter ⚠
- p.His248Tyr Single submitter ⚠
- p.Ile173Asn Single submitter ⚠
- p.Ile251Val Single submitter ⚠
- p.Ile289Thr Single submitter ⚠
- p.Ile291Ser Single submitter ⚠
- p.Ile291Val Single submitter ⚠
- p.Ile411Val Single submitter ⚠
- p.Leu109Phe Single submitter ⚠
- p.Leu10Arg Single submitter ⚠
- p.Leu141Phe Single submitter ⚠
- p.Leu141Val Single submitter ⚠
- p.Leu148Met Single submitter ⚠
- p.Leu218Pro Single submitter ⚠
- p.Leu270Arg Single submitter ⚠
- p.Leu341Arg Single submitter ⚠
- p.Leu362Phe Single submitter ⚠
- p.Lys377Asn Single submitter ⚠
- p.Lys40Glu Single submitter ⚠
- p.Lys48Asn Single submitter ⚠
- p.Met176Lys Single submitter ⚠
- p.Met41Val Single submitter ⚠
- p.Phe351Leu Single submitter ⚠
- p.Pro114Ser Single submitter ⚠
- p.Pro142Ala Single submitter ⚠
- p.Pro152Ser Single submitter ⚠
- p.Pro156Leu Single submitter ⚠
- p.Pro174Ser Single submitter ⚠
- p.Pro316Leu Single submitter ⚠
- p.Pro43Arg Single submitter ⚠
- p.Pro69Arg Single submitter ⚠
- p.Pro71Ser Single submitter ⚠
- p.Pro7His Single submitter ⚠
- p.Ser185Cys Single submitter ⚠
- p.Ser188Phe Single submitter ⚠
- p.Ser210Phe Single submitter ⚠
- p.Ser220Cys Single submitter ⚠
- p.Ser379Phe Single submitter ⚠
- p.Ser379Pro Single submitter ⚠
- p.Ser76Phe Single submitter ⚠
- p.Thr219Ile Single submitter ⚠
- p.Thr219Ser Single submitter ⚠
- p.Thr245Arg Single submitter ⚠
- p.Thr319Ala Single submitter ⚠
- p.Trp381Arg Single submitter ⚠
- p.Tyr261Phe Single submitter ⚠
- p.Tyr412Cys Single submitter ⚠
- p.Val147Ala Single submitter ⚠
- p.Val178Leu Single submitter ⚠
- p.Val178Met Single submitter ⚠
- p.Val197Leu Single submitter ⚠
- p.Val46Leu Single submitter ⚠
- p.Val52Ala Single submitter ⚠