NCL — 85 ClinVar variants
All ClinVar germline NCL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 68 flagged for review →
8 Benign · 7 Likely benign · 70 Uncertain significance
Full NCL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 68
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 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NCL p.Ala103Val Uncertain significance Single submitter
- NCL p.Ala134Ser Uncertain significance Single submitter
- NCL p.Ala216Val Uncertain significance Single submitter
- NCL p.Ala229Val Uncertain significance Single submitter
- NCL p.Ala276Ser Uncertain significance Single submitter
- NCL p.Ala290Val Uncertain significance Single submitter
- NCL p.Ala320Val Uncertain significance Single submitter
- NCL p.Ala531Gly Uncertain significance Single submitter
- NCL p.Ala566Val Uncertain significance Single submitter
- NCL p.Ala56Thr Uncertain significance Single submitter
- NCL p.Asn308Ser Uncertain significance Single submitter
- NCL p.Asn565Ser Uncertain significance Single submitter
- NCL p.Asp168Gly Uncertain significance Single submitter
- NCL p.Asp235Gly Uncertain significance Single submitter
- NCL p.Asp329Asn Uncertain significance Single submitter
- NCL p.Asp335Gly Uncertain significance Single submitter
- NCL p.Glu238Asp Uncertain significance Single submitter
- NCL p.Glu549Gly Uncertain significance Single submitter
- NCL p.Glu620Lys Uncertain significance Single submitter
- NCL p.Glu621Asp Uncertain significance Single submitter
- NCL p.Gly651Cys Uncertain significance Single submitter
- NCL p.Ile129Leu Uncertain significance Single submitter
- NCL p.Ile48Thr Uncertain significance Single submitter
- NCL p.Lys220Asn Uncertain significance Single submitter
- NCL p.Lys429Arg Uncertain significance Single submitter
- NCL p.Met175Val Uncertain significance Single submitter
- NCL p.Pro100Ser Uncertain significance Single submitter
- NCL p.Pro21Ala Uncertain significance Single submitter
- NCL p.Pro321Ala Uncertain significance Single submitter
- NCL p.Thr214Ile Uncertain significance Single submitter
- NCL p.Thr305Met Uncertain significance Single submitter
- NCL p.Thr305Pro Uncertain significance Single submitter
- NCL p.Thr452Ala Uncertain significance Single submitter
- NCL p.Thr480Ser Uncertain significance Single submitter
- NCL p.Thr69Ala Uncertain significance Single submitter
- NCL p.Tyr525His Uncertain significance Single submitter
- NCL p.Val227Met Uncertain significance Single submitter
- NCL p.Val371Ile Uncertain significance Single submitter
- NCL p.Val46Ile Uncertain significance Single submitter
Predictors split 29
The independent predictors disagree with each other — read with care.
- NCL p.Lys116Thr Benign Multiple submitters
- NCL p.Ala536Thr Uncertain significance Single submitter
- NCL p.Arg390Gln Uncertain significance Single submitter
- NCL p.Arg656His Uncertain significance Single submitter
- NCL p.Asp166Tyr Uncertain significance Single submitter
- NCL p.Asp186Tyr Uncertain significance Single submitter
- NCL p.Asp188Gly Uncertain significance Single submitter
- NCL p.Asp189Asn Uncertain significance Single submitter
- NCL p.Asp246Asn Uncertain significance Single submitter
- NCL p.Asp246Gly Uncertain significance Single submitter
- NCL p.Asp248Asn Uncertain significance Single submitter
- NCL p.Asp250Asn Uncertain significance Single submitter
- NCL p.Asp359Asn Uncertain significance Single submitter
- NCL p.Asp391Asn Uncertain significance Single submitter
- NCL p.Glu163Lys Uncertain significance Single submitter
- NCL p.Glu265Lys Uncertain significance Single submitter
- NCL p.Glu267Lys Uncertain significance Single submitter
- NCL p.Glu292Gln Uncertain significance Single submitter
- NCL p.Glu38Lys Uncertain significance Single submitter
- NCL p.Glu411Lys Uncertain significance Single submitter
- NCL p.Glu538Ala Uncertain significance Single submitter
- NCL p.Gly218Arg Uncertain significance Single submitter
- NCL p.Gly652Ala Uncertain significance Single submitter
- NCL p.Lys217Arg Uncertain significance Single submitter
- NCL p.Lys230Arg Uncertain significance Single submitter
- NCL p.Lys95Arg Uncertain significance Single submitter
- NCL p.Ser145Cys Uncertain significance Single submitter
- NCL p.Thr92Pro Uncertain significance Single submitter
- NCL p.Val341Ile Uncertain significance Single submitter
All NCL variants
Benign 8
- p.Ala629= Multiple submitters
- p.Asp535= Multiple submitters
- p.Glu196Asp Multiple submitters
- p.Glu585= Multiple submitters
- p.Lys116Thr Multiple submitters ⚠
- c.1706-18dup Single submitter
- p.Asp242= Single submitter
- p.Glu271del Single submitter
Likely benign 7
- p.Ala363= Single submitter
- p.Asp198= Single submitter
- p.Asp199Glu Single submitter
- p.Asp247= Single submitter
- p.Glu157Asp Single submitter
- p.Glu158Asp Single submitter
- p.Glu251Asp Single submitter
Uncertain significance 70
- p.Gly662Ser Multiple submitters
- p.Ala103Val Single submitter ⚠
- p.Ala134Ser Single submitter ⚠
- p.Ala216Val Single submitter ⚠
- p.Ala229Val Single submitter ⚠
- p.Ala276Ser Single submitter ⚠
- p.Ala290Val Single submitter ⚠
- p.Ala320Val Single submitter ⚠
- p.Ala531Gly Single submitter ⚠
- p.Ala536Thr Single submitter ⚠
- p.Ala566Val Single submitter ⚠
- p.Ala56Thr Single submitter ⚠
- p.Arg390Gln Single submitter ⚠
- p.Arg656His Single submitter ⚠
- p.Asn308Ser Single submitter ⚠
- p.Asn565Ser Single submitter ⚠
- p.Asp166Tyr Single submitter ⚠
- p.Asp168Gly Single submitter ⚠
- p.Asp186Tyr Single submitter ⚠
- p.Asp188Gly Single submitter ⚠
- p.Asp189Asn Single submitter ⚠
- p.Asp235Gly Single submitter ⚠
- p.Asp246Asn Single submitter ⚠
- p.Asp246Gly Single submitter ⚠
- p.Asp248Asn Single submitter ⚠
- p.Asp250Asn Single submitter ⚠
- p.Asp329Asn Single submitter ⚠
- p.Asp335Gly Single submitter ⚠
- p.Asp359Asn Single submitter ⚠
- p.Asp391Asn Single submitter ⚠
- p.Gln518Lys Single submitter
- p.Glu163Lys Single submitter ⚠
- p.Glu238Asp Single submitter ⚠
- p.Glu265Lys Single submitter ⚠
- p.Glu267Lys Single submitter ⚠
- p.Glu292Gln Single submitter ⚠
- p.Glu38Lys Single submitter ⚠
- p.Glu411Lys Single submitter ⚠
- p.Glu538Ala Single submitter ⚠
- p.Glu549Gly Single submitter ⚠
- p.Glu620Lys Single submitter ⚠
- p.Glu621Asp Single submitter ⚠
- p.Gly218Arg Single submitter ⚠
- p.Gly651Cys Single submitter ⚠
- p.Gly652Ala Single submitter ⚠
- p.Ile129Leu Single submitter ⚠
- p.Ile48Thr Single submitter ⚠
- p.Lys217Arg Single submitter ⚠
- p.Lys220Asn Single submitter ⚠
- p.Lys230Arg Single submitter ⚠
- p.Lys429Arg Single submitter ⚠
- p.Lys95Arg Single submitter ⚠
- p.Met175Val Single submitter ⚠
- p.Pro100Ser Single submitter ⚠
- p.Pro21Ala Single submitter ⚠
- p.Pro321Ala Single submitter ⚠
- p.Ser145Cys Single submitter ⚠
- p.Thr214Ile Single submitter ⚠
- p.Thr305Met Single submitter ⚠
- p.Thr305Pro Single submitter ⚠
- p.Thr452Ala Single submitter ⚠
- p.Thr480Ser Single submitter ⚠
- p.Thr69Ala Single submitter ⚠
- p.Thr92Pro Single submitter ⚠
- p.Tyr525His Single submitter ⚠
- p.Val227Met Single submitter ⚠
- p.Val341Ile Single submitter ⚠
- p.Val371Ile Single submitter ⚠
- p.Val46Ile Single submitter ⚠
- p.Gly664fs No assertion criteria autism