IPO4 — 185 ClinVar variants

All ClinVar germline IPO4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 172 flagged for review →

3 Benign · 6 Likely benign · 176 Uncertain significance

Full IPO4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 172

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 136

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

Predictors split 36

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

All IPO4 variants

Benign 3

p.Arg20Cys Multiple submitters ⚠
p.Pro494Thr Multiple submitters
p.Asp636= Single submitter

Likely benign 6

p.Asp1033Glu Single submitter
p.Asp575Asn Single submitter
p.Glu682= Single submitter
p.Leu515= Single submitter
p.Leu88= Single submitter
p.Val799Met Single submitter

Uncertain significance 176

p.Ala1052Val Single submitter ⚠
p.Ala219Thr Single submitter ⚠
p.Ala227Asp Single submitter ⚠
p.Ala262Val Single submitter ⚠
p.Ala341Val Single submitter ⚠
p.Ala360Val Single submitter ⚠
p.Ala417Val Single submitter
p.Ala503Asp Single submitter ⚠
p.Ala503Thr Single submitter ⚠
p.Ala602Val Single submitter ⚠
p.Ala731Thr Single submitter ⚠
p.Ala74Val Single submitter ⚠
p.Ala802Gly Single submitter ⚠
p.Ala809Ser Single submitter ⚠
p.Ala829Thr Single submitter ⚠
p.Ala984Val Single submitter ⚠
p.Arg1025His Single submitter ⚠
p.Arg109Gln Single submitter ⚠
p.Arg11Trp Single submitter ⚠
p.Arg149Trp Single submitter ⚠
p.Arg158Gln Single submitter ⚠
p.Arg182His Single submitter ⚠
p.Arg411Cys Single submitter ⚠
p.Arg411His Single submitter
p.Arg495Gln Single submitter ⚠
p.Arg527Gln Single submitter ⚠
p.Arg553Gly Single submitter ⚠
p.Arg584His Single submitter ⚠
p.Arg68Ser Single submitter ⚠
p.Arg70Gln Single submitter ⚠
p.Arg750Gln Single submitter ⚠
p.Arg763Gln Single submitter ⚠
p.Arg763Gly Single submitter ⚠
p.Arg765Cys Single submitter ⚠
p.Arg780Cys Single submitter ⚠
p.Arg780His Single submitter ⚠
p.Arg792His Single submitter ⚠
p.Arg899Gln Single submitter ⚠
p.Arg899Trp Single submitter ⚠
p.Arg951Trp Single submitter ⚠
p.Arg953Gln Single submitter ⚠
p.Arg956Cys Single submitter ⚠
p.Arg958Cys Single submitter ⚠
p.Arg958His Single submitter ⚠
p.Arg967His Single submitter ⚠
p.Asn256Ser Single submitter ⚠
p.Asn66His Single submitter ⚠
p.Asn686Lys Single submitter ⚠
p.Asn760Lys Single submitter ⚠
p.Asn960Lys Single submitter ⚠
p.Asp312Asn Single submitter ⚠
p.Asp338Gly Single submitter ⚠
p.Asp50Asn Single submitter ⚠
p.Asp575Glu Single submitter ⚠
p.Asp636Glu Single submitter ⚠
p.Asp656Asn Single submitter ⚠
p.Asp812His Single submitter ⚠
p.Asp828Glu Single submitter ⚠
p.Asp849Glu Single submitter ⚠
p.Asp912Glu Single submitter ⚠
p.Asp959Asn Single submitter ⚠
p.Cys732Ser Single submitter ⚠
p.Cys864Arg Single submitter ⚠
p.Cys864Ser Single submitter ⚠
p.Gln1054Leu Single submitter ⚠
p.Gln397His Single submitter ⚠
p.Gln76Pro Single submitter ⚠
p.Gln805Glu Single submitter ⚠
p.Glu114Asp Single submitter ⚠
p.Glu170Asp Single submitter ⚠
p.Glu19Lys Single submitter ⚠
p.Glu311Lys Single submitter ⚠
p.Glu316Val Single submitter ⚠
p.Glu319Lys Single submitter ⚠
p.Glu347Gln Single submitter ⚠
p.Glu347Lys Single submitter ⚠
p.Glu364Lys Single submitter ⚠
p.Glu435Asp Single submitter ⚠
p.Glu524Asp Single submitter ⚠
p.Glu620Lys Single submitter ⚠
p.Glu666Gln Single submitter ⚠
p.Glu682Gln Single submitter
p.Glu696Gly Single submitter ⚠
p.Glu837Gln Single submitter ⚠
p.Glu928Lys Single submitter ⚠
p.Glu952Lys Single submitter ⚠
p.Glu978Lys Single submitter ⚠
p.Gly172Val Single submitter ⚠
p.Gly306Cys Single submitter ⚠
p.Gly402Val Single submitter ⚠
p.Gly419Ser Single submitter ⚠
p.Gly5Arg Single submitter ⚠
p.Gly628Arg Single submitter ⚠
p.Gly681Arg Single submitter ⚠
p.Gly857Arg Single submitter ⚠
p.Gly857Ser Single submitter ⚠
p.His131Arg Single submitter ⚠
p.His131Tyr Single submitter ⚠
p.His156Arg Single submitter ⚠
p.His428Arg Single submitter ⚠
p.His710Gln Single submitter ⚠
p.His718Tyr Single submitter ⚠
p.Ile1001Thr Single submitter ⚠
p.Ile239Leu Single submitter ⚠
p.Ile265Thr Single submitter ⚠
p.Leu1044Pro Single submitter ⚠
p.Leu1074Ile Single submitter ⚠
p.Leu123Phe Single submitter ⚠
p.Leu163His Single submitter
p.Leu202Phe Single submitter ⚠
p.Leu202Trp Single submitter ⚠
p.Leu28Phe Single submitter ⚠
p.Leu361Ser Single submitter ⚠
p.Leu38Phe Single submitter ⚠
p.Leu395Met Single submitter ⚠
p.Leu418Gln Single submitter ⚠
p.Leu44Pro Single submitter ⚠
p.Leu45Ile Single submitter ⚠
p.Leu65Met Single submitter ⚠
p.Leu711Val Single submitter ⚠
p.Leu804Pro Single submitter ⚠
p.Leu900Pro Single submitter ⚠
p.Leu949Val Single submitter ⚠
p.Leu995Ser Single submitter ⚠
p.Leu995Val Single submitter ⚠
p.Lys1070Glu Single submitter ⚠
p.Lys497Glu Single submitter ⚠
p.Met210Ile Single submitter ⚠
p.Met354Thr Single submitter ⚠
p.Met481Ile Single submitter ⚠
p.Met695Val Single submitter ⚠
p.Phe1050Ser Single submitter ⚠
p.Phe465Cys Single submitter ⚠
p.Phe465Ser Single submitter ⚠
p.Phe669Leu Single submitter ⚠
p.Phe691Cys Single submitter ⚠
p.Pro1021Leu Single submitter ⚠
p.Pro1021Ser Single submitter ⚠
p.Pro130Ser Single submitter ⚠
p.Pro189Leu Single submitter ⚠
p.Pro204Arg Single submitter
p.Pro241Arg Single submitter ⚠
p.Pro304Gln Single submitter ⚠
p.Pro345Ser Single submitter ⚠
p.Pro394Ser Single submitter ⚠
p.Pro471Ser Single submitter ⚠
p.Pro517Ser Single submitter ⚠
p.Pro561Leu Single submitter ⚠
p.Ser173Ala Single submitter ⚠
p.Ser363Asn Single submitter ⚠
p.Ser407Leu Single submitter ⚠
p.Ser431Arg Single submitter ⚠
p.Ser47Leu Single submitter ⚠
p.Ser514Leu Single submitter ⚠
p.Ser82Thr Single submitter ⚠
p.Thr294Ala Single submitter ⚠
p.Thr328Ile Single submitter ⚠
p.Thr610Met Single submitter ⚠
p.Thr808Ile Single submitter ⚠
p.Thr881Ala Single submitter ⚠
p.Thr92Arg Single submitter ⚠
p.Thr92Ile Single submitter ⚠
p.Thr974Pro Single submitter ⚠
p.Tyr1009Phe Single submitter ⚠
p.Tyr432Cys Single submitter ⚠
p.Tyr476Cys Single submitter ⚠
p.Tyr663Cys Single submitter ⚠
p.Val1019Glu Single submitter ⚠
p.Val1077Ile Single submitter ⚠
p.Val144Met Single submitter ⚠
p.Val171Ala Single submitter ⚠
p.Val375Leu Single submitter ⚠
p.Val680Met Single submitter ⚠
p.Val752Leu Single submitter ⚠
p.Val752Met Single submitter ⚠
p.Val771Met Single submitter ⚠