DHX40 — 64 ClinVar variants
All ClinVar germline DHX40 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 62 flagged for review →
1 Benign · 1 Likely benign · 62 Uncertain significance
Full DHX40 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 62
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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- DHX40 p.Ala11Glu Uncertain significance Single submitter
- DHX40 p.Ala216Thr Uncertain significance Single submitter
- DHX40 p.Ala515Thr Uncertain significance Single submitter
- DHX40 p.Arg248Gln Uncertain significance Single submitter
- DHX40 p.Arg59Lys Uncertain significance Single submitter
- DHX40 p.Arg67Lys Uncertain significance Single submitter
- DHX40 p.Asn163Ser Uncertain significance Single submitter
- DHX40 p.Asp173Asn Uncertain significance Single submitter
- DHX40 p.Gln731Arg Uncertain significance Single submitter
- DHX40 p.Glu195Asp Uncertain significance Single submitter
- DHX40 p.Glu462Asp Uncertain significance Single submitter
- DHX40 p.Glu727Lys Uncertain significance Single submitter
- DHX40 p.Gly363Ser Uncertain significance Single submitter
- DHX40 p.Gly483Ala Uncertain significance Single submitter
- DHX40 p.Gly567Glu Uncertain significance Single submitter
- DHX40 p.His771Tyr Uncertain significance Single submitter
- DHX40 p.Ile112Val Uncertain significance Single submitter
- DHX40 p.Ile146Phe Uncertain significance Single submitter
- DHX40 p.Ile338Met Uncertain significance Single submitter
- DHX40 p.Ile343Val Uncertain significance Single submitter
- DHX40 p.Leu189Trp Uncertain significance Single submitter
- DHX40 p.Leu86Phe Uncertain significance Single submitter
- DHX40 p.Lys142Glu Uncertain significance Single submitter
- DHX40 p.Lys40Glu Uncertain significance Single submitter
- DHX40 p.Lys742Glu Uncertain significance Single submitter
- DHX40 p.Phe560Tyr Uncertain significance Single submitter
- DHX40 p.Phe560Val Uncertain significance Single submitter
- DHX40 p.Pro12Leu Uncertain significance Single submitter
- DHX40 p.Thr663Ala Uncertain significance Single submitter
- DHX40 p.Tyr301Cys Uncertain significance Single submitter
- DHX40 p.Val134Leu Uncertain significance Single submitter
- DHX40 p.Val383Ile Uncertain significance Single submitter
Predictors split 30
The independent predictors disagree with each other — read with care.
- DHX40 p.Ala570Pro Uncertain significance Single submitter
- DHX40 p.Ala681Thr Uncertain significance Single submitter
- DHX40 p.Ala758Gly Uncertain significance Single submitter
- DHX40 p.Arg588Cys Uncertain significance Single submitter
- DHX40 p.Arg594Gln Uncertain significance Single submitter
- DHX40 p.Arg633Gln Uncertain significance Single submitter
- DHX40 p.Arg713Cys Uncertain significance Single submitter
- DHX40 p.Arg757Gln Uncertain significance Single submitter
- DHX40 p.Gln466Arg Uncertain significance Single submitter
- DHX40 p.His494Arg Uncertain significance Single submitter
- DHX40 p.Leu126Phe Uncertain significance Single submitter
- DHX40 p.Leu316Met Uncertain significance Single submitter
- DHX40 p.Lys764Arg Uncertain significance Single submitter
- DHX40 p.Met100Thr Uncertain significance Single submitter
- DHX40 p.Met122Ile Uncertain significance Single submitter
- DHX40 p.Met486Val Uncertain significance Single submitter
- DHX40 p.Met517Val Uncertain significance Single submitter
- DHX40 p.Pro231Leu Uncertain significance Single submitter
- DHX40 p.Pro231Ser Uncertain significance Single submitter
- DHX40 p.Ser30Leu Uncertain significance Single submitter
- DHX40 p.Ser504Phe Uncertain significance Single submitter
- DHX40 p.Thr308Ile Uncertain significance Single submitter
- DHX40 p.Thr309Ile Uncertain significance Single submitter
- DHX40 p.Thr50Ile Uncertain significance Single submitter
- DHX40 p.Thr555Ser Uncertain significance Single submitter
- DHX40 p.Trp580Arg Uncertain significance Single submitter
- DHX40 p.Tyr627Cys Uncertain significance Single submitter
- DHX40 p.Tyr91Cys Uncertain significance Single submitter
- DHX40 p.Tyr91Phe Uncertain significance Single submitter
- DHX40 p.Val206Met Uncertain significance Single submitter
All DHX40 variants
Benign 1
- p.Glu214= Multiple submitters
Likely benign 1
- p.Ala545Thr Single submitter
Uncertain significance 62
- p.Ala11Glu Single submitter ⚠
- p.Ala216Thr Single submitter ⚠
- p.Ala515Thr Single submitter ⚠
- p.Ala570Pro Single submitter ⚠
- p.Ala681Thr Single submitter ⚠
- p.Ala758Gly Single submitter ⚠
- p.Arg248Gln Single submitter ⚠
- p.Arg588Cys Single submitter ⚠
- p.Arg594Gln Single submitter ⚠
- p.Arg59Lys Single submitter ⚠
- p.Arg633Gln Single submitter ⚠
- p.Arg67Lys Single submitter ⚠
- p.Arg713Cys Single submitter ⚠
- p.Arg757Gln Single submitter ⚠
- p.Asn163Ser Single submitter ⚠
- p.Asp173Asn Single submitter ⚠
- p.Gln466Arg Single submitter ⚠
- p.Gln731Arg Single submitter ⚠
- p.Glu195Asp Single submitter ⚠
- p.Glu462Asp Single submitter ⚠
- p.Glu727Lys Single submitter ⚠
- p.Gly363Ser Single submitter ⚠
- p.Gly483Ala Single submitter ⚠
- p.Gly567Glu Single submitter ⚠
- p.His494Arg Single submitter ⚠
- p.His771Tyr Single submitter ⚠
- p.Ile112Val Single submitter ⚠
- p.Ile146Phe Single submitter ⚠
- p.Ile338Met Single submitter ⚠
- p.Ile343Val Single submitter ⚠
- p.Leu126Phe Single submitter ⚠
- p.Leu189Trp Single submitter ⚠
- p.Leu316Met Single submitter ⚠
- p.Leu86Phe Single submitter ⚠
- p.Lys142Glu Single submitter ⚠
- p.Lys40Glu Single submitter ⚠
- p.Lys742Glu Single submitter ⚠
- p.Lys764Arg Single submitter ⚠
- p.Met100Thr Single submitter ⚠
- p.Met122Ile Single submitter ⚠
- p.Met486Val Single submitter ⚠
- p.Met517Val Single submitter ⚠
- p.Phe560Tyr Single submitter ⚠
- p.Phe560Val Single submitter ⚠
- p.Pro12Leu Single submitter ⚠
- p.Pro231Leu Single submitter ⚠
- p.Pro231Ser Single submitter ⚠
- p.Ser30Leu Single submitter ⚠
- p.Ser504Phe Single submitter ⚠
- p.Thr308Ile Single submitter ⚠
- p.Thr309Ile Single submitter ⚠
- p.Thr50Ile Single submitter ⚠
- p.Thr555Ser Single submitter ⚠
- p.Thr663Ala Single submitter ⚠
- p.Trp580Arg Single submitter ⚠
- p.Tyr301Cys Single submitter ⚠
- p.Tyr627Cys Single submitter ⚠
- p.Tyr91Cys Single submitter ⚠
- p.Tyr91Phe Single submitter ⚠
- p.Val134Leu Single submitter ⚠
- p.Val206Met Single submitter ⚠
- p.Val383Ile Single submitter ⚠