INSYN2B — 94 ClinVar variants

All ClinVar germline INSYN2B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →

1 Conflicting · 2 Benign/Likely benign · 9 Likely benign · 82 Uncertain significance

Full INSYN2B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 81

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 agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

INSYN2B p.Arg406Trp Conflicting Single submitter

Predictors lean, ClinVar uncertain 73

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

Predictors split 7

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

All INSYN2B variants

Conflicting classifications of pathogenicity 1

p.Arg406Trp Single submitter ⚠

Benign/Likely benign 2

p.Thr363= Multiple submitters
p.Val166Leu Multiple submitters

Likely benign 9

p.Ala351= Single submitter
p.Arg240Cys Single submitter
p.Arg385Lys Single submitter
p.Arg406Gln Single submitter
p.His267= Single submitter
p.Leu250Pro Single submitter
p.Pro62Leu Single submitter
p.Ser474= Single submitter
p.Thr358Met Single submitter

Uncertain significance 82

p.Ala201Asp Single submitter ⚠
p.Ala220Val Single submitter ⚠
p.Ala347Glu Single submitter ⚠
p.Ala405Val Single submitter ⚠
p.Ala52Gly Single submitter ⚠
p.Ala63Gly Single submitter ⚠
p.Ala96Glu Single submitter ⚠
p.Arg15His Single submitter ⚠
p.Arg162Gln Single submitter ⚠
p.Arg217Gly Single submitter ⚠
p.Arg217Thr Single submitter ⚠
p.Arg225Thr Single submitter ⚠
p.Arg30His Single submitter ⚠
p.Arg415Gln Single submitter ⚠
p.Arg444Gln Single submitter ⚠
p.Arg522Trp Single submitter ⚠
p.Arg93Cys Single submitter ⚠
p.Asn16Ter Single submitter
p.Asn284Lys Single submitter ⚠
p.Asn426Lys Single submitter ⚠
p.Asn435Lys Single submitter ⚠
p.Asp147Glu Single submitter ⚠
p.Asp238Val Single submitter ⚠
p.Asp243Glu Single submitter ⚠
p.Cys301Tyr Single submitter ⚠
p.Cys329Ser Single submitter ⚠
p.Gln296His Single submitter ⚠
p.Gln36Pro Single submitter ⚠
p.Gln491Arg Single submitter ⚠
p.Gln57Leu Single submitter ⚠
p.Glu22Gly Single submitter ⚠
p.Glu253Lys Single submitter ⚠
p.Glu408Asp Single submitter ⚠
p.Glu421Ala Single submitter ⚠
p.Glu483Lys Single submitter ⚠
p.Gly136Ser Single submitter ⚠
p.Gly242Ala Single submitter ⚠
p.Gly242Asp Single submitter ⚠
p.Gly242Ser Single submitter ⚠
p.Gly242Val Single submitter ⚠
p.Gly324Glu Single submitter ⚠
p.Gly414Ala Single submitter ⚠
p.Gly414Asp Single submitter ⚠
p.Gly66Ala Single submitter ⚠
p.Gly66Arg Single submitter ⚠
p.His234Tyr Single submitter ⚠
p.His73Asn Single submitter ⚠
p.Ile95Thr Single submitter ⚠
p.Lys176Thr Single submitter ⚠
p.Lys525Asn Single submitter ⚠
p.Lys88Gln Single submitter ⚠
p.Pro125Ala Single submitter ⚠
p.Pro241Leu Single submitter ⚠
p.Pro276Thr Single submitter ⚠
p.Pro27Ser Single submitter ⚠
p.Pro303Leu Single submitter ⚠
p.Pro362Ser Single submitter ⚠
p.Pro506Ala Single submitter ⚠
p.Pro513Ala Single submitter ⚠
p.Pro76Ser Single submitter ⚠
p.Ser120Thr Single submitter ⚠
p.Ser194Thr Single submitter ⚠
p.Ser211Gly Single submitter ⚠
p.Ser226Leu Single submitter ⚠
p.Ser263Arg Single submitter ⚠
p.Ser266Arg Single submitter ⚠
p.Ser305Ala Single submitter ⚠
p.Ser305Phe Single submitter ⚠
p.Ser332Thr Single submitter ⚠
p.Ser333Thr Single submitter ⚠
p.Ser348Leu Single submitter ⚠
p.Ser381Phe Single submitter ⚠
p.Ser381Thr Single submitter ⚠
p.Ser425Leu Single submitter
p.Ser503Pro Single submitter ⚠
p.Thr116Ile Single submitter ⚠
p.Thr239Arg Single submitter ⚠
p.Thr239Ile Single submitter ⚠
p.Thr256Ile Single submitter ⚠
p.Thr45Ile Single submitter ⚠
p.Val264Ile Single submitter ⚠
p.Val56Ile Single submitter ⚠