NCEH1 — 49 ClinVar variants
All ClinVar germline NCEH1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 44 flagged for review →
2 Benign · 2 Likely benign · 45 Uncertain significance
Full NCEH1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 44
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 35
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NCEH1 p.Ala135Thr Uncertain significance Single submitter
- NCEH1 p.Ala284Thr Uncertain significance Single submitter
- NCEH1 p.Ala74Val Uncertain significance Single submitter
- NCEH1 p.Arg285His Uncertain significance Single submitter
- NCEH1 p.Arg323Cys Uncertain significance Single submitter
- NCEH1 p.Arg395Gln Uncertain significance Single submitter
- NCEH1 p.Asn259Ser Uncertain significance Single submitter
- NCEH1 p.Asn269Ile Uncertain significance Single submitter
- NCEH1 p.Asn270Ser Uncertain significance Single submitter
- NCEH1 p.Asn389Ser Uncertain significance Single submitter
- NCEH1 p.Gln314Arg Uncertain significance Single submitter
- NCEH1 p.Glu102Lys Uncertain significance Single submitter
- NCEH1 p.Gly114Arg Uncertain significance Single submitter
- NCEH1 p.Gly376Cys Uncertain significance Single submitter
- NCEH1 p.His160Arg Uncertain significance Single submitter
- NCEH1 p.Ile145Val Uncertain significance Single submitter
- NCEH1 p.Ile242Val Uncertain significance Single submitter
- NCEH1 p.Ile312Val Uncertain significance Single submitter
- NCEH1 p.Ile66Val Uncertain significance Single submitter
- NCEH1 p.Lys402Glu Uncertain significance Single submitter
- NCEH1 p.Lys81Thr Uncertain significance Single submitter
- NCEH1 p.Pro222Gln Uncertain significance Single submitter
- NCEH1 p.Pro99Leu Uncertain significance Single submitter
- NCEH1 p.Ser108Gly Uncertain significance Single submitter
- NCEH1 p.Ser76Pro Uncertain significance Single submitter
- NCEH1 p.Thr306Ala Uncertain significance Single submitter
- NCEH1 p.Thr388Ala Uncertain significance Single submitter
- NCEH1 p.Thr396Ser Uncertain significance Single submitter
- NCEH1 p.Tyr111Phe Uncertain significance Single submitter
- NCEH1 p.Tyr178Cys Uncertain significance Single submitter
- NCEH1 p.Tyr52Cys Uncertain significance Single submitter
- NCEH1 p.Val110Ile Uncertain significance Single submitter
- NCEH1 p.Val238Met Uncertain significance Single submitter
- NCEH1 p.Val247Ile Uncertain significance Single submitter
- NCEH1 p.Val368Met Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- NCEH1 p.Arg164Trp Uncertain significance Single submitter
- NCEH1 p.Arg245Cys Uncertain significance Single submitter
- NCEH1 p.Arg360His Uncertain significance Single submitter
- NCEH1 p.Asp128His Uncertain significance Single submitter
- NCEH1 p.Gly201Arg Uncertain significance Single submitter
- NCEH1 p.Gly365Ser Uncertain significance Single submitter
- NCEH1 p.Gly89Asp Uncertain significance Single submitter
- NCEH1 p.Phe69Ser Uncertain significance Single submitter
- NCEH1 p.Val92Ile Uncertain significance Single submitter
All NCEH1 variants
Benign 2
- p.Ala16Thr Multiple submitters
- p.Thr83= Multiple submitters
Likely benign 2
- p.Pro387= Single submitter
- p.Val268Ile Single submitter
Uncertain significance 45
- p.Ala135Thr Single submitter ⚠
- p.Ala284Thr Single submitter ⚠
- p.Ala74Val Single submitter ⚠
- p.Arg107Cys Single submitter
- p.Arg164Trp Single submitter ⚠
- p.Arg245Cys Single submitter ⚠
- p.Arg285His Single submitter ⚠
- p.Arg323Cys Single submitter ⚠
- p.Arg360His Single submitter ⚠
- p.Arg395Gln Single submitter ⚠
- p.Asn259Ser Single submitter ⚠
- p.Asn269Ile Single submitter ⚠
- p.Asn270Ser Single submitter ⚠
- p.Asn389Ser Single submitter ⚠
- p.Asp128His Single submitter ⚠
- p.Gln314Arg Single submitter ⚠
- p.Glu102Lys Single submitter ⚠
- p.Gly114Arg Single submitter ⚠
- p.Gly201Arg Single submitter ⚠
- p.Gly365Ser Single submitter ⚠
- p.Gly376Cys Single submitter ⚠
- p.Gly89Asp Single submitter ⚠
- p.His160Arg Single submitter ⚠
- p.Ile145Val Single submitter ⚠
- p.Ile242Val Single submitter ⚠
- p.Ile312Val Single submitter ⚠
- p.Ile66Val Single submitter ⚠
- p.Lys402Glu Single submitter ⚠
- p.Lys81Thr Single submitter ⚠
- p.Phe69Ser Single submitter ⚠
- p.Pro222Gln Single submitter ⚠
- p.Pro99Leu Single submitter ⚠
- p.Ser108Gly Single submitter ⚠
- p.Ser76Pro Single submitter ⚠
- p.Thr306Ala Single submitter ⚠
- p.Thr388Ala Single submitter ⚠
- p.Thr396Ser Single submitter ⚠
- p.Tyr111Phe Single submitter ⚠
- p.Tyr178Cys Single submitter ⚠
- p.Tyr52Cys Single submitter ⚠
- p.Val110Ile Single submitter ⚠
- p.Val238Met Single submitter ⚠
- p.Val247Ile Single submitter ⚠
- p.Val368Met Single submitter ⚠
- p.Val92Ile Single submitter ⚠