ECHDC2 — 58 ClinVar variants
All ClinVar germline ECHDC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 55 flagged for review →
3 Likely benign · 55 Uncertain significance
Full ECHDC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 55
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 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ECHDC2 p.Ala105Val Uncertain significance Single submitter
- ECHDC2 p.Ala235Val Uncertain significance Single submitter
- ECHDC2 p.Ala255Pro Uncertain significance Single submitter
- ECHDC2 p.Ala36Thr Uncertain significance Single submitter
- ECHDC2 p.Arg15Gln Uncertain significance Single submitter
- ECHDC2 p.Arg176Ser Uncertain significance Single submitter
- ECHDC2 p.Arg274Gln Uncertain significance Single submitter
- ECHDC2 p.Asn119Ser Uncertain significance Single submitter
- ECHDC2 p.Glu100Gln Uncertain significance Single submitter
- ECHDC2 p.Glu276Gln Uncertain significance Single submitter
- ECHDC2 p.Glu98Lys Uncertain significance Single submitter
- ECHDC2 p.Gly242Asp Uncertain significance Single submitter
- ECHDC2 p.Gly249Glu Uncertain significance Single submitter
- ECHDC2 p.Gly277Val Uncertain significance Single submitter
- ECHDC2 p.Ile129Thr Uncertain significance Single submitter
- ECHDC2 p.Ile246Thr Uncertain significance Single submitter
- ECHDC2 p.Ile260Thr Uncertain significance Single submitter
- ECHDC2 p.Leu145Pro Uncertain significance Single submitter
- ECHDC2 p.Leu181Val Uncertain significance Single submitter
- ECHDC2 p.Leu227Pro Uncertain significance Single submitter
- ECHDC2 p.Lys288Asn Uncertain significance Single submitter
- ECHDC2 p.Pro13Leu Uncertain significance Single submitter
- ECHDC2 p.Ser62Gly Uncertain significance Single submitter
- ECHDC2 p.Thr163Ile Uncertain significance Single submitter
- ECHDC2 p.Val183Met Uncertain significance Single submitter
- ECHDC2 p.Val244Ala Uncertain significance Single submitter
- ECHDC2 p.Val290Ile Uncertain significance Single submitter
Predictors split 28
The independent predictors disagree with each other — read with care.
- ECHDC2 p.Ala131Val Uncertain significance Single submitter
- ECHDC2 p.Ala152Thr Uncertain significance Single submitter
- ECHDC2 p.Ala201Gly Uncertain significance Single submitter
- ECHDC2 p.Ala20Pro Uncertain significance Single submitter
- ECHDC2 p.Ala20Thr Uncertain significance Single submitter
- ECHDC2 p.Ala210Thr Uncertain significance Single submitter
- ECHDC2 p.Ala219Thr Uncertain significance Single submitter
- ECHDC2 p.Ala220Thr Uncertain significance Single submitter
- ECHDC2 p.Arg115Trp Uncertain significance Single submitter
- ECHDC2 p.Arg12Lys Uncertain significance Single submitter
- ECHDC2 p.Arg165Gln Uncertain significance Single submitter
- ECHDC2 p.Arg179His Uncertain significance Single submitter
- ECHDC2 p.Arg17His Uncertain significance Single submitter
- ECHDC2 p.Arg225Gln Uncertain significance Single submitter
- ECHDC2 p.Arg240Trp Uncertain significance Single submitter
- ECHDC2 p.Arg272Trp Uncertain significance Single submitter
- ECHDC2 p.Arg285Gln Uncertain significance Single submitter
- ECHDC2 p.Arg53Cys Uncertain significance Single submitter
- ECHDC2 p.Arg53His Uncertain significance Single submitter
- ECHDC2 p.Arg78His Uncertain significance Single submitter
- ECHDC2 p.His202Tyr Uncertain significance Single submitter
- ECHDC2 p.Lys284Arg Uncertain significance Single submitter
- ECHDC2 p.Met263Thr Uncertain significance Single submitter
- ECHDC2 p.Pro233His Uncertain significance Single submitter
- ECHDC2 p.Pro236Ser Uncertain significance Single submitter
- ECHDC2 p.Thr163Ala Uncertain significance Single submitter
- ECHDC2 p.Val203Ile Uncertain significance Single submitter
- ECHDC2 p.Val239Met Uncertain significance Single submitter
All ECHDC2 variants
Likely benign 3
- p.Arg272Gln Single submitter
- p.Arg75Gln Single submitter
- p.Asp218= Single submitter
Uncertain significance 55
- p.Ala105Val Single submitter ⚠
- p.Ala131Val Single submitter ⚠
- p.Ala152Thr Single submitter ⚠
- p.Ala201Gly Single submitter ⚠
- p.Ala20Pro Single submitter ⚠
- p.Ala20Thr Single submitter ⚠
- p.Ala210Thr Single submitter ⚠
- p.Ala219Thr Single submitter ⚠
- p.Ala220Thr Single submitter ⚠
- p.Ala235Val Single submitter ⚠
- p.Ala255Pro Single submitter ⚠
- p.Ala36Thr Single submitter ⚠
- p.Arg115Trp Single submitter ⚠
- p.Arg12Lys Single submitter ⚠
- p.Arg15Gln Single submitter ⚠
- p.Arg165Gln Single submitter ⚠
- p.Arg176Ser Single submitter ⚠
- p.Arg179His Single submitter ⚠
- p.Arg17His Single submitter ⚠
- p.Arg225Gln Single submitter ⚠
- p.Arg240Trp Single submitter ⚠
- p.Arg272Trp Single submitter ⚠
- p.Arg274Gln Single submitter ⚠
- p.Arg285Gln Single submitter ⚠
- p.Arg53Cys Single submitter ⚠
- p.Arg53His Single submitter ⚠
- p.Arg78His Single submitter ⚠
- p.Asn119Ser Single submitter ⚠
- p.Glu100Gln Single submitter ⚠
- p.Glu276Gln Single submitter ⚠
- p.Glu98Lys Single submitter ⚠
- p.Gly242Asp Single submitter ⚠
- p.Gly249Glu Single submitter ⚠
- p.Gly277Val Single submitter ⚠
- p.His202Tyr Single submitter ⚠
- p.Ile129Thr Single submitter ⚠
- p.Ile246Thr Single submitter ⚠
- p.Ile260Thr Single submitter ⚠
- p.Leu145Pro Single submitter ⚠
- p.Leu181Val Single submitter ⚠
- p.Leu227Pro Single submitter ⚠
- p.Lys284Arg Single submitter ⚠
- p.Lys288Asn Single submitter ⚠
- p.Met263Thr Single submitter ⚠
- p.Pro13Leu Single submitter ⚠
- p.Pro233His Single submitter ⚠
- p.Pro236Ser Single submitter ⚠
- p.Ser62Gly Single submitter ⚠
- p.Thr163Ala Single submitter ⚠
- p.Thr163Ile Single submitter ⚠
- p.Val183Met Single submitter ⚠
- p.Val203Ile Single submitter ⚠
- p.Val239Met Single submitter ⚠
- p.Val244Ala Single submitter ⚠
- p.Val290Ile Single submitter ⚠