NCLN — 82 ClinVar variants
All ClinVar germline NCLN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →
1 Likely pathogenic · 2 Benign · 3 Likely benign · 76 Uncertain significance
Full NCLN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 69
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 58
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NCLN p.Ala118Thr Uncertain significance Single submitter
- NCLN p.Ala136Val Uncertain significance Single submitter
- NCLN p.Ala140Thr Uncertain significance Single submitter
- NCLN p.Ala169Thr Uncertain significance Single submitter
- NCLN p.Ala238Thr Uncertain significance Single submitter
- NCLN p.Ala274Val Uncertain significance Single submitter
- NCLN p.Ala346Thr Uncertain significance Single submitter
- NCLN p.Ala376Thr Uncertain significance Single submitter
- NCLN p.Ala421Ser Uncertain significance Single submitter
- NCLN p.Ala466Thr Uncertain significance Single submitter
- NCLN p.Ala560Gly Uncertain significance Single submitter
- NCLN p.Arg114Lys Uncertain significance Single submitter
- NCLN p.Arg125Trp Uncertain significance Single submitter
- NCLN p.Arg253His Uncertain significance Single submitter
- NCLN p.Arg257Gln Uncertain significance Single submitter
- NCLN p.Arg263Cys Uncertain significance Single submitter
- NCLN p.Arg339Gln Uncertain significance Single submitter
- NCLN p.Arg360Trp Uncertain significance Single submitter
- NCLN p.Arg374Cys Uncertain significance Single submitter
- NCLN p.Arg392His Uncertain significance Single submitter
- NCLN p.Arg405Trp Uncertain significance Single submitter
- NCLN p.Arg413His Uncertain significance Single submitter
- NCLN p.Arg485His Uncertain significance Single submitter
- NCLN p.Arg64Gln Uncertain significance Single submitter
- NCLN p.Arg82Cys Uncertain significance Single submitter
- NCLN p.Arg83Cys Uncertain significance Single submitter
- NCLN p.Arg88Gln Uncertain significance Single submitter
- NCLN p.Asn182Ser Uncertain significance Single submitter
- NCLN p.Asn428Lys Uncertain significance Single submitter
- NCLN p.Asp303Glu Uncertain significance Single submitter
- NCLN p.Asp508Asn Uncertain significance Single submitter
- NCLN p.Gln121Arg Uncertain significance Single submitter
- NCLN p.Gln395Pro Uncertain significance Single submitter
- NCLN p.Glu365Asp Uncertain significance Single submitter
- NCLN p.Glu95Gln Uncertain significance Single submitter
- NCLN p.Glu95Lys Uncertain significance Single submitter
- NCLN p.Gly394Ser Uncertain significance Single submitter
- NCLN p.Gly537Ser Uncertain significance Single submitter
- NCLN p.Ile361Thr Uncertain significance Single submitter
- NCLN p.Ile418Met Uncertain significance Single submitter
- NCLN p.Leu200Arg Uncertain significance Single submitter
- NCLN p.Leu380Val Uncertain significance Single submitter
- NCLN p.Leu452Met Uncertain significance Single submitter
- NCLN p.Leu452Val Uncertain significance Single submitter
- NCLN p.Lys157Arg Uncertain significance Single submitter
- NCLN p.Met400Thr Uncertain significance Single submitter
- NCLN p.Pro521Leu Uncertain significance Single submitter
- NCLN p.Ser454Leu Uncertain significance Single submitter
- NCLN p.Thr178Met Uncertain significance Single submitter
- NCLN p.Thr209Met Uncertain significance Single submitter
- NCLN p.Thr285Asn Uncertain significance Single submitter
- NCLN p.Thr442Arg Uncertain significance Single submitter
- NCLN p.Thr478Met Uncertain significance Single submitter
- NCLN p.Val123Ile Uncertain significance Single submitter
- NCLN p.Val204Met Uncertain significance Single submitter
- NCLN p.Val402Met Uncertain significance Single submitter
- NCLN p.Val519Ile Uncertain significance Single submitter
- NCLN p.Val541Met Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- NCLN p.Arg177Cys Uncertain significance Single submitter
- NCLN p.Arg207Trp Uncertain significance Single submitter
- NCLN p.Arg263Leu Uncertain significance Single submitter
- NCLN p.Arg339Trp Uncertain significance Single submitter
- NCLN p.Arg353Trp Uncertain significance Single submitter
- NCLN p.Gly183Ser Uncertain significance Single submitter
- NCLN p.Phe280Val Uncertain significance Single submitter
- NCLN p.Ser404Phe Uncertain significance Single submitter
- NCLN p.Thr264Met Uncertain significance Single submitter
- NCLN p.Val324Leu Uncertain significance Single submitter
- NCLN p.Val324Met Uncertain significance Single submitter
All NCLN variants
Likely pathogenic 1
- p.Gln166Ter No assertion criteria Hirschsprung disease, susceptibility to, 1
Benign 2
- c.615+9C>T Multiple submitters
- p.Pro521= Multiple submitters
Likely benign 3
- p.Arg125Gln Single submitter
- p.Lys157Glu Single submitter
- p.Val523Ile Single submitter
Uncertain significance 76
- p.Ala118Thr Single submitter ⚠
- p.Ala136Val Single submitter ⚠
- p.Ala140Thr Single submitter ⚠
- p.Ala169Thr Single submitter ⚠
- p.Ala238Thr Single submitter ⚠
- p.Ala274Val Single submitter ⚠
- p.Ala346Thr Single submitter ⚠
- p.Ala376Thr Single submitter ⚠
- p.Ala421Ser Single submitter ⚠
- p.Ala466Thr Single submitter ⚠
- p.Ala560Gly Single submitter ⚠
- p.Arg114Lys Single submitter ⚠
- p.Arg125Trp Single submitter ⚠
- p.Arg177Cys Single submitter ⚠
- p.Arg207Trp Single submitter ⚠
- p.Arg253His Single submitter ⚠
- p.Arg257Gln Single submitter ⚠
- p.Arg257Trp Single submitter
- p.Arg263Cys Single submitter ⚠
- p.Arg263Leu Single submitter ⚠
- p.Arg339Gln Single submitter ⚠
- p.Arg339Trp Single submitter ⚠
- p.Arg353Trp Single submitter ⚠
- p.Arg360Trp Single submitter ⚠
- p.Arg374Cys Single submitter ⚠
- p.Arg392His Single submitter ⚠
- p.Arg396His Single submitter
- p.Arg405Trp Single submitter ⚠
- p.Arg413Cys Single submitter
- p.Arg413His Single submitter ⚠
- p.Arg485His Single submitter ⚠
- p.Arg64Gln Single submitter ⚠
- p.Arg82Cys Single submitter ⚠
- p.Arg83Cys Single submitter ⚠
- p.Arg88Gln Single submitter ⚠
- p.Asn182Ser Single submitter ⚠
- p.Asn414Ser Single submitter
- p.Asn428Lys Single submitter ⚠
- p.Asp303Glu Single submitter ⚠
- p.Asp508Asn Single submitter ⚠
- p.Gln121Arg Single submitter ⚠
- p.Gln395Pro Single submitter ⚠
- p.Glu365Asp Single submitter ⚠
- p.Glu95Gln Single submitter ⚠
- p.Glu95Lys Single submitter ⚠
- p.Gly183Ser Single submitter ⚠
- p.Gly212Asp Single submitter
- p.Gly394Ser Single submitter ⚠
- p.Gly537Ser Single submitter ⚠
- p.Ile361Thr Single submitter ⚠
- p.Ile418Met Single submitter ⚠
- p.Leu200Arg Single submitter ⚠
- p.Leu380Val Single submitter ⚠
- p.Leu452Met Single submitter ⚠
- p.Leu452Val Single submitter ⚠
- p.Lys157Arg Single submitter ⚠
- p.Met400Thr Single submitter ⚠
- p.Phe280Val Single submitter ⚠
- p.Pro521Leu Single submitter ⚠
- p.Ser404Phe Single submitter ⚠
- p.Ser454Leu Single submitter ⚠
- p.Thr178Met Single submitter ⚠
- p.Thr209Met Single submitter ⚠
- p.Thr264Met Single submitter ⚠
- p.Thr285Asn Single submitter ⚠
- p.Thr442Arg Single submitter ⚠
- p.Thr478Met Single submitter ⚠
- p.Tyr540Ser Single submitter
- p.Val123Ile Single submitter ⚠
- p.Val204Met Single submitter ⚠
- p.Val324Leu Single submitter ⚠
- p.Val324Met Single submitter ⚠
- p.Val357Gly Single submitter
- p.Val402Met Single submitter ⚠
- p.Val519Ile Single submitter ⚠
- p.Val541Met Single submitter ⚠