E2F6 — 32 ClinVar variants
All ClinVar germline E2F6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
1 Likely pathogenic · 1 Likely benign · 30 Uncertain significance
Full E2F6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 30
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- E2F6 p.Arg80Lys Uncertain significance Single submitter
- E2F6 p.Asn108Ile Uncertain significance Single submitter
- E2F6 p.Asn133Asp Uncertain significance Single submitter
- E2F6 p.Asn228Ser Uncertain significance Single submitter
- E2F6 p.Asn31Thr Uncertain significance Single submitter
- E2F6 p.Asp114Asn Uncertain significance Single submitter
- E2F6 p.Asp149Glu Uncertain significance Single submitter
- E2F6 p.Gln242Lys Uncertain significance Single submitter
- E2F6 p.Glu274Ala Uncertain significance Single submitter
- E2F6 p.Gly241Asp Uncertain significance Single submitter
- E2F6 p.Gly252Arg Uncertain significance Single submitter
- E2F6 p.Gly263Ser Uncertain significance Single submitter
- E2F6 p.Leu36Gln Uncertain significance Single submitter
- E2F6 p.Lys203Glu Uncertain significance Single submitter
- E2F6 p.Pro270Ser Uncertain significance Single submitter
- E2F6 p.Pro29Leu Uncertain significance Single submitter
- E2F6 p.Pro6Leu Uncertain significance Single submitter
- E2F6 p.Pro6Ser Uncertain significance Single submitter
- E2F6 p.Ser258Asn Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- E2F6 p.Ala206Thr Uncertain significance Single submitter
- E2F6 p.Arg25Trp Uncertain significance Single submitter
- E2F6 p.Arg99Gln Uncertain significance Single submitter
- E2F6 p.Asn108Ser Uncertain significance Single submitter
- E2F6 p.Asp232Asn Uncertain significance Single submitter
- E2F6 p.His123Arg Uncertain significance Single submitter
- E2F6 p.Met153Val Uncertain significance Single submitter
- E2F6 p.Ser254Pro Uncertain significance Single submitter
- E2F6 p.Thr94Met Uncertain significance Single submitter
- E2F6 p.Val199Ile Uncertain significance Single submitter
- E2F6 p.Val51Met Uncertain significance Single submitter
All E2F6 variants
Likely pathogenic 1
- c.380_380+16del Single submitter ciliary dyskinesia, primary, 40
Likely benign 1
- p.Gly263Arg Single submitter
Uncertain significance 30
- p.Ala206Thr Single submitter ⚠
- p.Arg25Trp Single submitter ⚠
- p.Arg80Lys Single submitter ⚠
- p.Arg99Gln Single submitter ⚠
- p.Asn108Ile Single submitter ⚠
- p.Asn108Ser Single submitter ⚠
- p.Asn133Asp Single submitter ⚠
- p.Asn228Ser Single submitter ⚠
- p.Asn31Thr Single submitter ⚠
- p.Asp114Asn Single submitter ⚠
- p.Asp149Glu Single submitter ⚠
- p.Asp232Asn Single submitter ⚠
- p.Gln242Lys Single submitter ⚠
- p.Glu274Ala Single submitter ⚠
- p.Gly241Asp Single submitter ⚠
- p.Gly252Arg Single submitter ⚠
- p.Gly263Ser Single submitter ⚠
- p.His123Arg Single submitter ⚠
- p.Leu36Gln Single submitter ⚠
- p.Lys203Glu Single submitter ⚠
- p.Met153Val Single submitter ⚠
- p.Pro270Ser Single submitter ⚠
- p.Pro29Leu Single submitter ⚠
- p.Pro6Leu Single submitter ⚠
- p.Pro6Ser Single submitter ⚠
- p.Ser254Pro Single submitter ⚠
- p.Ser258Asn Single submitter ⚠
- p.Thr94Met Single submitter ⚠
- p.Val199Ile Single submitter ⚠
- p.Val51Met Single submitter ⚠