IPO8 — 185 ClinVar variants
All ClinVar germline IPO8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 108 flagged for review →
16 Pathogenic · 3 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 2 Conflicting · 5 Benign · 4 Benign/Likely benign · 32 Likely benign · 113 Uncertain significance
Full IPO8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 108
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
IPO8 p.Gly1016Val
Conflicting
Single submitter
Inborn genetic diseases
-
IPO8 p.Met113Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 83
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
IPO8 p.Ala877Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IPO8 p.Ala941Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IPO8 p.Arg884Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IPO8 p.Asn953Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IPO8 p.His435Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IPO8 p.Leu709Pro
Uncertain significance
Multiple submitters
VISS syndrome
-
IPO8 p.Tyr535Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IPO8 p.Ala1007Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Ala502Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Ala941Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Ala974Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Ala998Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Arg1002Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Arg321Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Arg321Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Arg496Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Arg884Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Arg887Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Arg887Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Asn331Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Asn883Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Asp855Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Cys827Tyr
Uncertain significance
Single submitter
VISS syndrome
-
IPO8 p.Gln1014Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Gln342Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Gln816Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Glu23Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Glu316Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Glu600Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Glu627Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Glu627Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Glu688Asp
Uncertain significance
Single submitter
IPO8-related disorder
- IPO8 p.Glu885Lys Uncertain significance Single submitter
-
IPO8 p.Glu897Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Glu925Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Gly125Ser
Uncertain significance
Single submitter
VISS syndrome
-
IPO8 p.Gly772Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.His799Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.His831Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Ile204Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Ile236Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Ile383Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Ile567Met
Uncertain significance
Single submitter
VISS syndrome
-
IPO8 p.Ile58Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Ile745Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Ile787Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Ile79Met
Uncertain significance
Single submitter
Inborn genetic diseases
- IPO8 p.Leu246Met Uncertain significance Single submitter
-
IPO8 p.Leu397Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Leu493Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Leu715Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Leu741Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Leu760Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Lys1008Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Lys1009Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Met113Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Met343Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Met412Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Met566Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Met693Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Phe1030Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Phe123Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- IPO8 p.Phe292Ile Uncertain significance Single submitter
-
IPO8 p.Pro1034Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Pro427Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- IPO8 p.Ser145Gly Uncertain significance Single submitter
-
IPO8 p.Ser486Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Ser571Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Ser657Tyr
Uncertain significance
Single submitter
IPO8-related disorder
-
IPO8 p.Ser661Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Thr235Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Thr702Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Thr878Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Tyr652Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Tyr700Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Tyr976Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Val241Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Val335Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Val408Met
Uncertain significance
Single submitter
Inborn genetic diseases
- IPO8 p.Val762Leu Uncertain significance Single submitter
-
IPO8 p.Val815Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Val862Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Val968Met
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 23
The independent predictors disagree with each other — read with care.
-
IPO8 p.Arg1002Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IPO8 p.Lys533Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
IPO8 p.Pro423Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- IPO8 p.Arg181Cys Uncertain significance Single submitter
- IPO8 p.Arg752Gly Uncertain significance Single submitter
- IPO8 p.Asn497Asp Uncertain significance Single submitter
-
IPO8 p.Cys664Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Gln224Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Gln332Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Glu161Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Glu732Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Gly99Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Leu294Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Leu868Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Lys565Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Phe687Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Phe82Ser
Uncertain significance
Single submitter
Thoracic aortic aneurysm or dissection
-
IPO8 p.Pro279Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Pro37Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Thr605Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Tyr162Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
IPO8 p.Tyr317Cys
Uncertain significance
Single submitter
VISS syndrome
- IPO8 p.Tyr570Cys Uncertain significance Single submitter
All IPO8 variants
Pathogenic 16
- p.Arg474Ter Multiple submitters IPO8-related aortopathy
- p.Trp259Ter Multiple submitters IPO8-related aortopathy
- c.1428+5G>A Single submitter IPO8-related aortopathy
- c.639+1G>A Single submitter VISS syndrome
- p.Gln28Ter Single submitter VISS syndrome
- p.Leu760fs Single submitter VISS syndrome
- p.Leu783fs Single submitter IPO8-related aortopathy
- p.Leu866fs Single submitter IPO8-related aortopathy
- p.Phe867Ter Single submitter VISS syndrome
- p.Trp229Ter Single submitter Thoracic aortic aneurysm or dissection
- p.Val257fs Single submitter IPO8-related aortopathy
- p.Val334fs Single submitter IPO8-related aortopathy
- c.2695+3_2695+7del No assertion criteria IPO8 related Connective tissue disorder
- c.2695+4_2695+8del No assertion criteria VISS syndrome
- p.Pro243fs No assertion criteria IPO8 related Connective tissue disorder
- p.Pro513fs No assertion criteria IPO8 related Connective tissue disorder
Pathogenic/Likely pathogenic 3
- c.2900-1G>A Multiple submitters IPO8-related aortopathy
- p.Arg803Ter Multiple submitters VISS syndrome
- p.Ser357fs Multiple submitters VISS syndrome
Likely pathogenic 10
- c.1756-1G>T Single submitter VISS syndrome
- c.85-1G>C Single submitter
- p.Arg234Ter Single submitter VISS syndrome
- p.Arg834Trp Single submitter VISS syndrome
- p.Arg971Ter Single submitter IPO8-related disorder
- p.Asp88Asn Single submitter VISS syndrome
- p.Cys749Arg Single submitter VISS syndrome
- p.Gln645Ter Single submitter VISS syndrome
- p.Lys406fs Single submitter VISS syndrome
- p.Ser710Ter Single submitter VISS syndrome
Conflicting classifications of pathogenicity 2
- p.Gly1016Val Single submitter Inborn genetic diseases ⚠
- p.Met113Ile Single submitter Inborn genetic diseases ⚠
Benign 5
- c.1144+9G>A Multiple submitters
- c.2268+6A>G Multiple submitters
- c.1881+14G>C Single submitter
- c.2075-4del Single submitter
- c.2696-8G>A Single submitter
Benign/Likely benign 4
- c.1881+9T>C Multiple submitters
- c.824+7A>G Multiple submitters
- p.Arg879Lys Multiple submitters
- p.Leu323= Multiple submitters
Likely benign 32
- p.Ala519= Multiple submitters
- p.Arg108= Multiple submitters Inborn genetic diseases
- c.1044+15G>A Single submitter
- c.1045-7A>T Single submitter
- c.1045-8C>T Single submitter
- c.1429-11T>A Single submitter
- c.2075-13G>T Single submitter
- c.2172+15A>T Single submitter
- c.2490-16dup Single submitter
- c.2899+10T>G Single submitter
- c.639+19A>T Single submitter
- c.640-291C>A Single submitter
- c.640-302C>G Single submitter
- c.84+13_84+19del Single submitter
- p.Ala659= Single submitter
- p.Ala738= Single submitter
- p.Arg1002= Single submitter
- p.Asn909= Single submitter
- p.Gln311= Single submitter
- p.Ile640Val Single submitter
- p.Leu190= Single submitter
- p.Leu678= Single submitter
- p.Lys591Arg Single submitter
- p.Pro75= Single submitter
- p.Pro863= Single submitter
- p.Ser1026= Single submitter
- p.Ser351= Single submitter
- p.Ser984= Single submitter
- p.Tyr160= Single submitter
- p.Val499Ile Single submitter
- c.2268+4A>G No assertion criteria IPO8-related disorder
- p.Ala941= No assertion criteria IPO8-related disorder
Uncertain significance 113
- p.Ala877Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ala941Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg1002Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg884Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asn953Asp Multiple submitters Inborn genetic diseases ⚠
- p.His435Arg Multiple submitters Inborn genetic diseases ⚠
- p.Leu709Pro Multiple submitters VISS syndrome ⚠
- p.Lys533Asn Multiple submitters Inborn genetic diseases ⚠
- p.Pro423Leu Multiple submitters Inborn genetic diseases ⚠
- p.Tyr535Cys Multiple submitters Inborn genetic diseases ⚠
- c.1339-1G>T Single submitter
- c.1756-5C>G Single submitter
- c.482+6T>C Single submitter
- p.Ala1007Gly Single submitter Inborn genetic diseases ⚠
- p.Ala502Val Single submitter Inborn genetic diseases ⚠
- p.Ala941Ser Single submitter Inborn genetic diseases ⚠
- p.Ala974Asp Single submitter Inborn genetic diseases ⚠
- p.Ala998Ser Single submitter Inborn genetic diseases ⚠
- p.Arg1002Gln Single submitter Inborn genetic diseases ⚠
- p.Arg181Cys Single submitter ⚠
- p.Arg321Cys Single submitter Inborn genetic diseases ⚠
- p.Arg321Gly Single submitter Inborn genetic diseases ⚠
- p.Arg496Lys Single submitter Inborn genetic diseases ⚠
- p.Arg752Gly Single submitter ⚠
- p.Arg884Gly Single submitter Inborn genetic diseases ⚠
- p.Arg887Cys Single submitter Inborn genetic diseases ⚠
- p.Arg887Ser Single submitter Inborn genetic diseases ⚠
- p.Asn331Ser Single submitter Inborn genetic diseases ⚠
- p.Asn497Asp Single submitter ⚠
- p.Asn883Asp Single submitter Inborn genetic diseases ⚠
- p.Asp855Glu Single submitter Inborn genetic diseases ⚠
- p.Cys664Arg Single submitter Inborn genetic diseases ⚠
- p.Cys827Tyr Single submitter VISS syndrome ⚠
- p.Gln1014Arg Single submitter Inborn genetic diseases ⚠
- p.Gln184Pro Single submitter Inborn genetic diseases
- p.Gln224Pro Single submitter Inborn genetic diseases ⚠
- p.Gln332Lys Single submitter Inborn genetic diseases ⚠
- p.Gln342Leu Single submitter Inborn genetic diseases ⚠
- p.Gln816Leu Single submitter Inborn genetic diseases ⚠
- p.Glu161Asp Single submitter Inborn genetic diseases ⚠
- p.Glu23Lys Single submitter Inborn genetic diseases ⚠
- p.Glu316Lys Single submitter Inborn genetic diseases ⚠
- p.Glu600Lys Single submitter Inborn genetic diseases ⚠
- p.Glu627Gln Single submitter Inborn genetic diseases ⚠
- p.Glu627Gly Single submitter Inborn genetic diseases ⚠
- p.Glu688Asp Single submitter IPO8-related disorder ⚠
- p.Glu732Lys Single submitter Inborn genetic diseases ⚠
- p.Glu885Lys Single submitter ⚠
- p.Glu897Asp Single submitter Inborn genetic diseases ⚠
- p.Glu925Ala Single submitter Inborn genetic diseases ⚠
- p.Glu928del Single submitter
- p.Gly125Ser Single submitter VISS syndrome ⚠
- p.Gly772Glu Single submitter Inborn genetic diseases ⚠
- p.Gly99Glu Single submitter Inborn genetic diseases ⚠
- p.His799Tyr Single submitter Inborn genetic diseases ⚠
- p.His831Arg Single submitter Inborn genetic diseases ⚠
- p.Ile204Met Single submitter Inborn genetic diseases ⚠
- p.Ile236Val Single submitter Inborn genetic diseases ⚠
- p.Ile383Val Single submitter Inborn genetic diseases ⚠
- p.Ile567Met Single submitter VISS syndrome ⚠
- p.Ile58Thr Single submitter Inborn genetic diseases ⚠
- p.Ile745Val Single submitter Inborn genetic diseases ⚠
- p.Ile787Val Single submitter Inborn genetic diseases ⚠
- p.Ile79Met Single submitter Inborn genetic diseases ⚠
- p.Leu246Met Single submitter ⚠
- p.Leu294Phe Single submitter Inborn genetic diseases ⚠
- p.Leu397Val Single submitter Inborn genetic diseases ⚠
- p.Leu493Phe Single submitter Inborn genetic diseases ⚠
- p.Leu715Val Single submitter Inborn genetic diseases ⚠
- p.Leu741Arg Single submitter Inborn genetic diseases ⚠
- p.Leu760Pro Single submitter Inborn genetic diseases ⚠
- p.Leu868Val Single submitter Inborn genetic diseases ⚠
- p.Lys1008Glu Single submitter Inborn genetic diseases ⚠
- p.Lys1009Arg Single submitter Inborn genetic diseases ⚠
- p.Lys565Asn Single submitter Inborn genetic diseases ⚠
- p.Met113Thr Single submitter Inborn genetic diseases ⚠
- p.Met343Thr Single submitter Inborn genetic diseases ⚠
- p.Met412Val Single submitter Inborn genetic diseases ⚠
- p.Met566Leu Single submitter Inborn genetic diseases ⚠
- p.Met693Val Single submitter Inborn genetic diseases ⚠
- p.Phe1030Tyr Single submitter Inborn genetic diseases ⚠
- p.Phe123Leu Single submitter Inborn genetic diseases ⚠
- p.Phe292Ile Single submitter ⚠
- p.Phe687Leu Single submitter Inborn genetic diseases ⚠
- p.Phe82Ser Single submitter Thoracic aortic aneurysm or dissection ⚠
- p.Pro1034Arg Single submitter Inborn genetic diseases ⚠
- p.Pro279Ser Single submitter Inborn genetic diseases ⚠
- p.Pro37Leu Single submitter Inborn genetic diseases ⚠
- p.Pro427Ser Single submitter Inborn genetic diseases ⚠
- p.Ser145Gly Single submitter ⚠
- p.Ser486Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser571Arg Single submitter Inborn genetic diseases ⚠
- p.Ser657Tyr Single submitter IPO8-related disorder ⚠
- p.Ser661Asn Single submitter Inborn genetic diseases ⚠
- p.Thr235Ser Single submitter Inborn genetic diseases ⚠
- p.Thr605Ile Single submitter Inborn genetic diseases ⚠
- p.Thr702Ala Single submitter Inborn genetic diseases ⚠
- p.Thr878Ala Single submitter Inborn genetic diseases ⚠
- p.Tyr162Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr297Cys Single submitter Inborn genetic diseases
- p.Tyr317Cys Single submitter VISS syndrome ⚠
- p.Tyr570Cys Single submitter ⚠
- p.Tyr652Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr700Phe Single submitter Inborn genetic diseases ⚠
- p.Tyr976Phe Single submitter Inborn genetic diseases ⚠
- p.Val241Ile Single submitter Inborn genetic diseases ⚠
- p.Val299Glu Single submitter Inborn genetic diseases
- p.Val335Ala Single submitter Inborn genetic diseases ⚠
- p.Val408Met Single submitter Inborn genetic diseases ⚠
- p.Val762Leu Single submitter ⚠
- p.Val815Leu Single submitter Inborn genetic diseases ⚠
- p.Val862Leu Single submitter Inborn genetic diseases ⚠
- p.Val968Met Single submitter Inborn genetic diseases ⚠