NUP210 — 330 ClinVar variants

All ClinVar germline NUP210 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 283 flagged for review →

3 Conflicting · 5 Benign · 32 Likely benign · 290 Uncertain significance

Full NUP210 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 283

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 3

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

Predictors lean, ClinVar uncertain 235

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 235

Predictors split 45

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

All NUP210 variants

Conflicting classifications of pathogenicity 3

p.Arg1835Gln Single submitter ⚠
p.Gln286Arg Single submitter ⚠
p.Pro290Leu Single submitter ⚠

Benign 5

c.*1195T>C Multiple submitters
p.Gly1136Ser Multiple submitters
p.Val964Ala Multiple submitters
c.305-524G>A Single submitter
p.Ala1693= Single submitter

Likely benign 32

c.437-3T>C Single submitter
p.Ala1120= Single submitter
p.Ala1461Thr Single submitter
p.Ala755Thr Single submitter
p.Ala930Thr Single submitter
p.Arg1173Cys Single submitter ⚠
p.Arg1232Gln Single submitter
p.Arg915His Single submitter
p.Asn1513Ser Single submitter
p.Asp831His Single submitter
p.Gly607Ser Single submitter
p.Gly691Ser Single submitter
p.Ile1187Val Single submitter
p.Ile1518Val Single submitter
p.Ile1645Val Single submitter
p.Ile370Val Single submitter
p.Ile956Val Single submitter
p.Met1345Val Single submitter
p.Pro542= Single submitter
p.Pro951= Single submitter
p.Ser1100= Single submitter
p.Ser976= Single submitter
p.Thr1401= Single submitter
p.Val1219Ile Single submitter
p.Val1717Ile Single submitter
p.Val1772Met Single submitter
p.Val629Ile Single submitter
p.Val973Ile Single submitter
p.Arg364His No assertion criteria NUP210-related disorder
p.His867Tyr No assertion criteria NUP210-related disorder
p.Pro733Thr No assertion criteria NUP210-related disorder
p.Thr1534= No assertion criteria NUP210-related disorder

Uncertain significance 290

p.Ala1011Ser Single submitter ⚠
p.Ala1050Ser Single submitter ⚠
p.Ala111Gly Single submitter ⚠
p.Ala1120Val Single submitter ⚠
p.Ala1124Thr Single submitter ⚠
p.Ala1125Val Single submitter ⚠
p.Ala1174Thr Single submitter ⚠
p.Ala1259Pro Single submitter ⚠
p.Ala1395Thr Single submitter ⚠
p.Ala1512Asp Single submitter ⚠
p.Ala167Val Single submitter ⚠
p.Ala1714Val Single submitter ⚠
p.Ala1729Thr Single submitter ⚠
p.Ala1734Thr Single submitter ⚠
p.Ala1776Val Single submitter ⚠
p.Ala1822Val Single submitter ⚠
p.Ala1883Asp Single submitter ⚠
p.Ala297Val Single submitter ⚠
p.Ala312Val Single submitter ⚠
p.Ala423Val Single submitter
p.Ala471Thr Single submitter ⚠
p.Ala567Ser Single submitter ⚠
p.Ala612Thr Single submitter
p.Ala633Val Single submitter ⚠
p.Ala684Thr Single submitter ⚠
p.Ala736Val Single submitter ⚠
p.Ala740Thr Single submitter ⚠
p.Ala747Pro Single submitter ⚠
p.Ala747Val Single submitter ⚠
p.Ala817Val Single submitter ⚠
p.Ala844Asp Single submitter ⚠
p.Ala90Thr Single submitter ⚠
p.Ala944Thr Single submitter ⚠
p.Ala944Val Single submitter ⚠
p.Ala969Gly Single submitter ⚠
p.Ala98Ser Single submitter ⚠
p.Arg1000Cys Single submitter ⚠
p.Arg1000His Single submitter ⚠
p.Arg1047Cys Single submitter ⚠
p.Arg108Cys Single submitter ⚠
p.Arg1178Leu Single submitter ⚠
p.Arg1217Trp Single submitter ⚠
p.Arg1223Gln Single submitter ⚠
p.Arg1225Gln Single submitter ⚠
p.Arg1246Trp Single submitter ⚠
p.Arg1250Gln Single submitter ⚠
p.Arg1250Trp Single submitter ⚠
p.Arg1321Cys Single submitter ⚠
p.Arg1447His Single submitter ⚠
p.Arg1528Gln Single submitter ⚠
p.Arg1556Met Single submitter ⚠
p.Arg1655Gln Single submitter ⚠
p.Arg169Thr Single submitter ⚠
p.Arg1789Cys Single submitter ⚠
p.Arg1789His Single submitter ⚠
p.Arg1790His Single submitter ⚠
p.Arg221Cys Single submitter ⚠
p.Arg231Cys Single submitter ⚠
p.Arg298Gln Single submitter ⚠
p.Arg298Trp Single submitter ⚠
p.Arg328Cys Single submitter ⚠
p.Arg410Cys Single submitter ⚠
p.Arg609Trp Single submitter ⚠
p.Arg60Gln Single submitter ⚠
p.Arg701Gln Single submitter ⚠
p.Arg701Trp Single submitter ⚠
p.Arg783Cys Single submitter ⚠
p.Arg786Trp Single submitter ⚠
p.Arg797His Single submitter ⚠
p.Arg798Gln Single submitter ⚠
p.Arg85His Single submitter ⚠
p.Arg91Cys Single submitter ⚠
p.Arg941Gly Single submitter ⚠
p.Asn1062Ser Single submitter ⚠
p.Asn1135Lys Single submitter ⚠
p.Asn1203Ser Single submitter ⚠
p.Asn1389Ile Single submitter ⚠
p.Asn175Ser Single submitter ⚠
p.Asn29Asp Single submitter ⚠
p.Asn378Lys Single submitter ⚠
p.Asn801Ser Single submitter ⚠
p.Asp1038His Single submitter ⚠
p.Asp1410Asn Single submitter ⚠
p.Asp1431Asn Single submitter ⚠
p.Asp1519Asn Single submitter ⚠
p.Asp279Asn Single submitter ⚠
p.Asp279His Single submitter ⚠
p.Asp793Asn Single submitter ⚠
p.Asp832Asn Single submitter ⚠
p.Cys712Tyr Single submitter ⚠
p.Cys767Trp Single submitter ⚠
p.Gln105Arg Single submitter ⚠
p.Gln314Arg Single submitter ⚠
p.Gln551Arg Single submitter ⚠
p.Gln705Arg Single submitter ⚠
p.Gln830His Single submitter ⚠
p.Glu1228Lys Single submitter ⚠
p.Glu127Gly Single submitter ⚠
p.Glu1327Lys Single submitter ⚠
p.Glu1352Gln Single submitter ⚠
p.Glu1352Lys Single submitter ⚠
p.Glu1598Gly Single submitter ⚠
p.Glu1736Lys Single submitter ⚠
p.Glu224Lys Single submitter ⚠
p.Glu282Lys Single submitter ⚠
p.Glu293Lys Single submitter ⚠
p.Glu398Lys Single submitter ⚠
p.Glu584Lys Single submitter ⚠
p.Glu613Asp Single submitter ⚠
p.Glu73Gly Single submitter ⚠
p.Glu820Lys Single submitter ⚠
p.Glu849Lys Single submitter ⚠
p.Gly1093Arg Single submitter ⚠
p.Gly1103Ser Single submitter ⚠
p.Gly1134Arg Single submitter ⚠
p.Gly1245Cys Single submitter ⚠
p.Gly1249Val Single submitter ⚠
p.Gly1338Arg Single submitter ⚠
p.Gly1343Arg Single submitter ⚠
p.Gly1347Arg Single submitter ⚠
p.Gly1523Ser Single submitter ⚠
p.Gly1531Arg Single submitter ⚠
p.Gly1682Arg Single submitter ⚠
p.Gly1820Arg Single submitter ⚠
p.Gly214Arg Single submitter ⚠
p.Gly355Ser Single submitter ⚠
p.Gly363Ser Single submitter ⚠
p.Gly480Ser Single submitter ⚠
p.Gly510Arg Single submitter ⚠
p.Gly526Ser Single submitter ⚠
p.Gly566Arg Single submitter ⚠
p.Gly627Ser Single submitter ⚠
p.Gly657Ala Single submitter ⚠
p.Gly667Ala Single submitter ⚠
p.Gly70Cys Single submitter ⚠
p.Gly835Ser Single submitter ⚠
p.Gly862Asp Single submitter ⚠
p.His1417Gln Single submitter ⚠
p.His1542Tyr Single submitter ⚠
p.His782Tyr Single submitter ⚠
p.Ile1133Thr Single submitter ⚠
p.Ile1600Thr Single submitter
p.Ile1609Val Single submitter ⚠
p.Ile243Leu Single submitter ⚠
p.Ile259Val Single submitter ⚠
p.Ile289Val Single submitter ⚠
p.Ile411Phe Single submitter ⚠
p.Ile421Thr Single submitter ⚠
p.Ile460Thr Single submitter
p.Ile509Met Single submitter ⚠
p.Ile509Val Single submitter ⚠
p.Ile637Val Single submitter ⚠
p.Ile66Met Single submitter ⚠
p.Ile887Thr Single submitter ⚠
p.Ile958Met Single submitter ⚠
p.Ile983Met Single submitter ⚠
p.Leu1021Phe Single submitter ⚠
p.Leu1083Arg Single submitter ⚠
p.Leu1121Pro Single submitter ⚠
p.Leu1233Phe Single submitter ⚠
p.Leu1323Val Single submitter ⚠
p.Leu135Val Single submitter ⚠
p.Leu1393Val Single submitter ⚠
p.Leu1562Phe Single submitter ⚠
p.Leu1650Val Single submitter ⚠
p.Leu400Pro Single submitter
p.Leu620Phe Single submitter ⚠
p.Leu621Pro Single submitter ⚠
p.Leu694Val Single submitter ⚠
p.Leu752Phe Single submitter ⚠
p.Leu868Phe Single submitter ⚠
p.Lys1063Asn Single submitter ⚠
p.Lys1258Glu Single submitter ⚠
p.Lys1662Arg Single submitter ⚠
p.Met1470Thr Single submitter ⚠
p.Met1647Ile Single submitter ⚠
p.Met825Val Single submitter ⚠
p.Met945Val Single submitter ⚠
p.Phe1014Leu Single submitter ⚠
p.Phe1044Val Single submitter
p.Phe1408Leu Single submitter ⚠
p.Phe1676Val Single submitter ⚠
p.Phe744Leu Single submitter ⚠
p.Pro1008Ser Single submitter ⚠
p.Pro1072Ser Single submitter ⚠
p.Pro1326Leu Single submitter ⚠
p.Pro134Ser Single submitter ⚠
p.Pro1397Leu Single submitter ⚠
p.Pro1464Leu Single submitter ⚠
p.Pro1617Leu Single submitter ⚠
p.Pro1686Leu Single submitter ⚠
p.Pro1715Leu Single submitter ⚠
p.Pro1728Ser Single submitter ⚠
p.Pro1840Leu Single submitter ⚠
p.Pro1864Leu Single submitter ⚠
p.Pro1875Leu Single submitter ⚠
p.Pro247Leu Single submitter ⚠
p.Pro277Leu Single submitter
p.Pro292Ser Single submitter ⚠
p.Pro441Thr Single submitter ⚠
p.Pro453Leu Single submitter ⚠
p.Pro464Leu Single submitter ⚠
p.Pro542Leu Single submitter ⚠
p.Pro593Thr Single submitter ⚠
p.Pro599Leu Single submitter ⚠
p.Pro648Ser Single submitter ⚠
p.Pro68Leu Single submitter ⚠
p.Pro749Leu Single submitter
p.Pro876Leu Single submitter ⚠
p.Pro879Ser Single submitter ⚠
p.Pro89Ala Single submitter ⚠
p.Pro968Gln Single submitter ⚠
p.Ser1230Leu Single submitter ⚠
p.Ser1275Trp Single submitter ⚠
p.Ser133Ala Single submitter ⚠
p.Ser1421Leu Single submitter ⚠
p.Ser1644Ala Single submitter ⚠
p.Ser1672Cys Single submitter ⚠
p.Ser1848Arg Single submitter ⚠
p.Ser1848Asn Single submitter ⚠
p.Ser1859Leu Single submitter ⚠
p.Ser288Arg Single submitter ⚠
p.Ser326Asn Single submitter ⚠
p.Ser489Leu Single submitter ⚠
p.Ser489Pro Single submitter ⚠
p.Ser577Tyr Single submitter
p.Ser606Arg Single submitter ⚠
p.Ser606Ile Single submitter
p.Ser617Cys Single submitter ⚠
p.Ser723Leu Single submitter ⚠
p.Ser750Phe Single submitter ⚠
p.Ser77Tyr Single submitter ⚠
p.Ser834Gly Single submitter ⚠
p.Ser869Thr Single submitter ⚠
p.Ser884Leu Single submitter ⚠
p.Thr1054Ser Single submitter ⚠
p.Thr1440Asn Single submitter ⚠
p.Thr151Pro Single submitter ⚠
p.Thr1522Met Single submitter ⚠
p.Thr1567Ser Single submitter ⚠
p.Thr1748Met Single submitter ⚠
p.Thr1813Met Single submitter ⚠
p.Thr181Ile Single submitter ⚠
p.Thr1833Met Single submitter ⚠
p.Thr1844Lys Single submitter ⚠
p.Thr1844Met Single submitter ⚠
p.Thr257Asn Single submitter ⚠
p.Thr307Met Single submitter ⚠
p.Thr419Met Single submitter ⚠
p.Thr475Pro Single submitter ⚠
p.Thr619Met Single submitter ⚠
p.Thr711Ile Single submitter ⚠
p.Thr731Ile Single submitter ⚠
p.Thr903Ile Single submitter ⚠
p.Thr929Ile Single submitter ⚠
p.Trp1212Arg Single submitter ⚠
p.Tyr1376His Single submitter ⚠
p.Tyr1795Phe Single submitter ⚠
p.Tyr1884Cys Single submitter ⚠
p.Tyr192Asp Single submitter
p.Tyr341Cys Single submitter ⚠
p.Tyr347Cys Single submitter ⚠
p.Tyr472Cys Single submitter ⚠
p.Val1077Ile Single submitter ⚠
p.Val113Met Single submitter ⚠
p.Val1170Met Single submitter ⚠
p.Val1205Met Single submitter ⚠
p.Val1243Met Single submitter ⚠
p.Val1322Ile Single submitter ⚠
p.Val1367Ala Single submitter ⚠
p.Val1374Asp Single submitter ⚠
p.Val1445Ile Single submitter ⚠
p.Val1491Met Single submitter ⚠
p.Val1497Leu Single submitter ⚠
p.Val1533Met Single submitter ⚠
p.Val1577Leu Single submitter ⚠
p.Val1581Met Single submitter ⚠
p.Val1723Glu Single submitter ⚠
p.Val1730Met Single submitter ⚠
p.Val1749Ile Single submitter ⚠
p.Val1781Met Single submitter ⚠
p.Val372Ile Single submitter ⚠
p.Val382Glu Single submitter ⚠
p.Val435Ile Single submitter ⚠
p.Val530Met Single submitter ⚠
p.Val571Ile Single submitter ⚠
p.Val585Leu Single submitter ⚠
p.Val629Gly Single submitter ⚠
p.Val741Leu Single submitter ⚠
p.Val745Ile Single submitter ⚠