NIBAN2 — 152 ClinVar variants

All ClinVar germline NIBAN2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 143 flagged for review →

7 Likely benign · 145 Uncertain significance

Full NIBAN2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 143

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 112

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 31

The independent predictors disagree with each other — read with care.

All NIBAN2 variants

Likely benign 7

p.Ala105Val Single submitter
p.Ala149Thr Single submitter
p.Gly600Ser Single submitter
p.Ile135Val Single submitter
p.Phe287= Single submitter
p.Thr143= Single submitter
p.Val116Ile Single submitter

Uncertain significance 145

p.Ala115Gly Single submitter ⚠
p.Ala12Ser Single submitter ⚠
p.Ala167Val Single submitter ⚠
p.Ala178Thr Single submitter ⚠
p.Ala208Val Single submitter ⚠
p.Ala285Thr Single submitter ⚠
p.Ala300Thr Single submitter ⚠
p.Ala396Val Single submitter ⚠
p.Ala495Val Single submitter ⚠
p.Ala557Val Single submitter ⚠
p.Ala582Val Single submitter ⚠
p.Ala585Thr Single submitter ⚠
p.Ala585Val Single submitter ⚠
p.Ala645Val Single submitter ⚠
p.Ala658Ser Single submitter ⚠
p.Ala678Ser Single submitter ⚠
p.Ala678Thr Single submitter ⚠
p.Ala687Thr Single submitter ⚠
p.Ala706Pro Single submitter ⚠
p.Ala706Ser Single submitter ⚠
p.Arg109Gln Single submitter ⚠
p.Arg13Gly Single submitter ⚠
p.Arg168Cys Single submitter ⚠
p.Arg168His Single submitter ⚠
p.Arg192Gln Single submitter ⚠
p.Arg192Trp Single submitter ⚠
p.Arg266Gln Single submitter ⚠
p.Arg266Trp Single submitter ⚠
p.Arg362Gln Single submitter ⚠
p.Arg413Gln Single submitter ⚠
p.Arg518Gln Single submitter ⚠
p.Arg518Pro Single submitter ⚠
p.Arg529Thr Single submitter ⚠
p.Arg566Gln Single submitter ⚠
p.Arg617Gln Single submitter ⚠
p.Arg618Cys Single submitter ⚠
p.Arg61Cys Single submitter ⚠
p.Arg68Cys Single submitter ⚠
p.Arg68His Single submitter ⚠
p.Arg88His Single submitter ⚠
p.Asn42Asp Single submitter ⚠
p.Asn563Lys Single submitter ⚠
p.Asp189His Single submitter ⚠
p.Asp201Asn Single submitter ⚠
p.Asp371Tyr Single submitter ⚠
p.Asp481Asn Single submitter ⚠
p.Asp526Asn Single submitter ⚠
p.Asp588Asn Single submitter ⚠
p.Asp648Asn Single submitter ⚠
p.Asp648Tyr Single submitter ⚠
p.Asp66Asn Single submitter ⚠
p.Asp81Val Single submitter ⚠
p.Gln722Arg Single submitter ⚠
p.Glu102Lys Single submitter ⚠
p.Glu179Lys Single submitter ⚠
p.Glu221Lys Single submitter ⚠
p.Glu281Lys Single submitter ⚠
p.Glu288Lys Single submitter ⚠
p.Glu368Asp Single submitter ⚠
p.Glu583Lys Single submitter ⚠
p.Glu636Asp Single submitter ⚠
p.Glu67Ala Single submitter ⚠
p.Glu689Lys Single submitter ⚠
p.Gly22Arg Single submitter ⚠
p.Gly254Ser Single submitter ⚠
p.Gly381Ser Single submitter ⚠
p.Gly386Ser Single submitter ⚠
p.Gly457Val Single submitter ⚠
p.Gly50Asp Single submitter ⚠
p.Gly597Ser Single submitter ⚠
p.Gly741Arg Single submitter ⚠
p.Gly97Arg Single submitter ⚠
p.His277Asn Single submitter ⚠
p.His436Tyr Single submitter ⚠
p.His46Gln Single submitter ⚠
p.His8Pro Single submitter ⚠
p.Ile151Val Single submitter ⚠
p.Ile501Met Single submitter ⚠
p.Ile531Phe Single submitter ⚠
p.Ile69Thr Single submitter ⚠
p.Leu152Ile Single submitter ⚠
p.Leu40Val Single submitter ⚠
p.Leu496Val Single submitter ⚠
p.Leu5Val Single submitter ⚠
p.Leu612Val Single submitter ⚠
p.Leu656Gln Single submitter ⚠
p.Lys123Gln Single submitter ⚠
p.Lys203Arg Single submitter ⚠
p.Lys203Glu Single submitter ⚠
p.Lys20Thr Single submitter ⚠
p.Lys467Gln Single submitter ⚠
p.Lys84Arg Single submitter ⚠
p.Met174Ile Single submitter ⚠
p.Met301Ile Single submitter ⚠
p.Met309Thr Single submitter ⚠
p.Met309Val Single submitter ⚠
p.Met351Ile Single submitter ⚠
p.Pro112Leu Single submitter ⚠
p.Pro255Leu Single submitter ⚠
p.Pro255Ser Single submitter ⚠
p.Pro261Leu Single submitter ⚠
p.Pro299Leu Single submitter ⚠
p.Pro329Ala Single submitter ⚠
p.Pro329Ser Single submitter ⚠
p.Pro517Thr Single submitter ⚠
p.Pro607Leu Single submitter ⚠
p.Pro644Leu Single submitter ⚠
p.Pro647Leu Single submitter ⚠
p.Pro677Thr Single submitter ⚠
p.Pro684Ser Single submitter ⚠
p.Pro693Leu Single submitter ⚠
p.Pro693Ser Single submitter ⚠
p.Pro711Ser Single submitter ⚠
p.Ser219Phe Single submitter ⚠
p.Ser272Leu Single submitter ⚠
p.Ser411Leu Single submitter ⚠
p.Ser574Gly Single submitter ⚠
p.Ser594Asn Single submitter ⚠
p.Ser613Leu Single submitter ⚠
p.Ser696Leu Single submitter ⚠
p.Ser72Leu Single submitter ⚠
p.Thr26Lys Single submitter ⚠
p.Thr26Met Single submitter ⚠
p.Thr314Asn Single submitter ⚠
p.Thr447Met Single submitter ⚠
p.Thr51Met Single submitter ⚠
p.Thr536Met Single submitter ⚠
p.Thr651Ala Single submitter ⚠
p.Tyr107Cys Single submitter ⚠
p.Tyr223His Single submitter ⚠
p.Tyr388Phe Single submitter ⚠
p.Tyr406Cys Single submitter ⚠
p.Tyr96Ser Single submitter ⚠
p.Val116Ala Single submitter ⚠
p.Val275Leu Single submitter ⚠
p.Val297Gly Single submitter ⚠
p.Val304Ile Single submitter ⚠
p.Val335Met Single submitter ⚠
p.Val352Leu Single submitter ⚠
p.Val38Met Single submitter
p.Val445Gly Single submitter ⚠
p.Val445Met Single submitter
p.Val558Leu Single submitter ⚠
p.Val63Met Single submitter ⚠
p.Val70Leu Single submitter ⚠