EXOSC4 — 34 ClinVar variants
All ClinVar germline EXOSC4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →
1 Benign · 2 Likely benign · 31 Uncertain significance
Full EXOSC4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 27
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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EXOSC4 p.Ala159Val Uncertain significance Single submitter
- EXOSC4 p.Ala197Thr Uncertain significance Single submitter
- EXOSC4 p.Ala19Ser Uncertain significance Single submitter
- EXOSC4 p.Ala203Thr Uncertain significance Single submitter
- EXOSC4 p.Arg222Gln Uncertain significance Single submitter
- EXOSC4 p.Arg230Gln Uncertain significance Single submitter
- EXOSC4 p.Arg237His Uncertain significance Single submitter
- EXOSC4 p.Arg89Gln Uncertain significance Single submitter
- EXOSC4 p.Arg94Gly Uncertain significance Single submitter
- EXOSC4 p.Arg94His Uncertain significance Single submitter
- EXOSC4 p.Asp172Asn Uncertain significance Single submitter
- EXOSC4 p.Asp245Asn Uncertain significance Single submitter
- EXOSC4 p.Cys97Tyr Uncertain significance Single submitter
- EXOSC4 p.Glu207Lys Uncertain significance Single submitter
- EXOSC4 p.Gly167Ser Uncertain significance Single submitter
- EXOSC4 p.His56Arg Uncertain significance Single submitter
- EXOSC4 p.Ile241Val Uncertain significance Single submitter
- EXOSC4 p.Ile41Val Uncertain significance Single submitter
- EXOSC4 p.Leu71Val Uncertain significance Single submitter
- EXOSC4 p.Phe107Ser Uncertain significance Single submitter
- EXOSC4 p.Val165Met Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- EXOSC4 p.Ala2Val Uncertain significance Single submitter
- EXOSC4 p.Arg118His Uncertain significance Single submitter
- EXOSC4 p.Leu228Val Uncertain significance Single submitter
- EXOSC4 p.Pro191Ser Uncertain significance Single submitter
- EXOSC4 p.Pro67Arg Uncertain significance Single submitter
- EXOSC4 p.Ser77Arg Uncertain significance Single submitter
All EXOSC4 variants
Benign 1
- p.Gln75= Multiple submitters
Uncertain significance 31
- p.Ala159Val Single submitter ⚠
- p.Ala197Thr Single submitter ⚠
- p.Ala19Ser Single submitter ⚠
- p.Ala203Thr Single submitter ⚠
- p.Ala2Val Single submitter ⚠
- p.Arg118His Single submitter ⚠
- p.Arg204Gln Single submitter
- p.Arg222Gln Single submitter ⚠
- p.Arg230Gln Single submitter ⚠
- p.Arg237His Single submitter ⚠
- p.Arg59Trp Single submitter
- p.Arg89Gln Single submitter ⚠
- p.Arg94Gly Single submitter ⚠
- p.Arg94His Single submitter ⚠
- p.Asp172Asn Single submitter ⚠
- p.Asp229Val Single submitter
- p.Asp245Asn Single submitter ⚠
- p.Asp9His Single submitter
- p.Cys97Tyr Single submitter ⚠
- p.Glu207Lys Single submitter ⚠
- p.Gly167Ser Single submitter ⚠
- p.His56Arg Single submitter ⚠
- p.Ile241Val Single submitter ⚠
- p.Ile41Val Single submitter ⚠
- p.Leu228Val Single submitter ⚠
- p.Leu71Val Single submitter ⚠
- p.Phe107Ser Single submitter ⚠
- p.Pro191Ser Single submitter ⚠
- p.Pro67Arg Single submitter ⚠
- p.Ser77Arg Single submitter ⚠
- p.Val165Met Single submitter ⚠