IWS1 — 91 ClinVar variants

All ClinVar germline IWS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →

2 Benign · 8 Likely benign · 81 Uncertain significance

Full IWS1 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 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.

Predictors split 23

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

All IWS1 variants

Benign 2

p.Ser426= Multiple submitters
p.Ser289= Single submitter

Likely benign 8

p.Arg100His Single submitter
p.Gln308Arg Single submitter
p.Glu266= Single submitter
p.Leu75Ser Single submitter
p.Met344Val Single submitter
p.Pro255= Single submitter
p.Pro256= Single submitter
p.Ser263= Single submitter

Uncertain significance 81

p.Ala156Thr Single submitter ⚠
p.Ala779Val Single submitter ⚠
p.Ala805Pro Single submitter ⚠
p.Ala807Thr Single submitter ⚠
p.Arg23Trp Single submitter ⚠
p.Arg272Gly Single submitter ⚠
p.Arg335Lys Single submitter ⚠
p.Arg412His Single submitter ⚠
p.Arg47His Single submitter ⚠
p.Arg535Gln Single submitter ⚠
p.Arg543Cys Single submitter ⚠
p.Arg56Gln Single submitter ⚠
p.Arg704Met Single submitter ⚠
p.Arg715Gln Single submitter ⚠
p.Arg716Gln Single submitter ⚠
p.Arg717Lys Single submitter ⚠
p.Asn114Ile Single submitter ⚠
p.Asn453Asp Single submitter ⚠
p.Asn467Ser Single submitter ⚠
p.Asn471Thr Single submitter ⚠
p.Asp119Asn Single submitter ⚠
p.Asp145His Single submitter ⚠
p.Asp2Glu Single submitter ⚠
p.Asp347Asn Single submitter ⚠
p.Asp380Glu Single submitter ⚠
p.Asp418Gly Single submitter ⚠
p.Asp72Asn Single submitter ⚠
p.Asp9His Single submitter ⚠
p.Gln220His Single submitter ⚠
p.Gln233Glu Single submitter ⚠
p.Gln642Pro Single submitter ⚠
p.Glu175Lys Single submitter ⚠
p.Glu199Ala Single submitter ⚠
p.Glu266Asp Single submitter ⚠
p.Glu328Gly Single submitter ⚠
p.Glu442Gly Single submitter ⚠
p.Glu443Gln Single submitter ⚠
p.Glu484Lys Single submitter ⚠
p.Glu494Asp Single submitter ⚠
p.Glu636Lys Single submitter ⚠
p.Glu73Gly Single submitter ⚠
p.Glu86Gly Single submitter ⚠
p.Gly310Trp Single submitter ⚠
p.Gly39Arg Single submitter ⚠
p.Gly430Ser Single submitter ⚠
p.Gly490Val Single submitter ⚠
p.Gly550Ser Single submitter ⚠
p.Ile161Val Single submitter ⚠
p.Ile273Met Single submitter ⚠
p.Ile657Val Single submitter ⚠
p.Ile689Val Single submitter ⚠
p.Leu458Val Single submitter ⚠
p.Leu588Phe Single submitter ⚠
p.Lys218Arg Single submitter ⚠
p.Lys431Glu Single submitter ⚠
p.Met375Thr Single submitter ⚠
p.Met375Val Single submitter ⚠
p.Met539Arg Single submitter ⚠
p.Met539Ile Single submitter ⚠
p.Met567Leu Single submitter ⚠
p.Met613Leu Single submitter ⚠
p.Pro191Leu Single submitter ⚠
p.Pro206Ala Single submitter ⚠
p.Pro229Leu Single submitter ⚠
p.Pro271Thr Single submitter ⚠
p.Pro295Leu Single submitter ⚠
p.Pro297Arg Single submitter ⚠
p.Pro757Ser Single submitter ⚠
p.Ser131Gly Single submitter ⚠
p.Ser213Asn Single submitter ⚠
p.Ser213Ile Single submitter ⚠
p.Ser252Asn Single submitter ⚠
p.Ser276Leu Single submitter ⚠
p.Ser377Arg Single submitter ⚠
p.Ser44Asn Single submitter ⚠
p.Ser540Arg Single submitter ⚠
p.Ser811Gly Single submitter ⚠
p.Thr17Ile Single submitter ⚠
p.Thr435Asn Single submitter ⚠
p.Tyr665Cys Single submitter ⚠
p.Val770Ala Single submitter ⚠