NES — 260 ClinVar variants

All ClinVar germline NES variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 216 flagged for review →

2 Conflicting · 9 Benign · 29 Likely benign · 220 Uncertain significance

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

⚑ Evidence disagreements 216

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.

Predictors lean, ClinVar uncertain 197

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 197

Predictors split 17

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

All NES variants

Conflicting classifications of pathogenicity 2

p.Arg745Thr Single submitter ⚠
p.Val1105Leu Single submitter ⚠

Benign 9

p.Arg342Gln Multiple submitters
p.Glu609Gln Multiple submitters
p.Gly1407Arg Multiple submitters
p.Leu412= Multiple submitters
p.Lys830Arg Multiple submitters
p.Pro1275Leu Multiple submitters
p.Ser1466Gly Multiple submitters
p.Leu660= Single submitter
p.Leu791Ile Single submitter

Likely benign 29

p.Ala1062= Single submitter
p.Ala610Thr Single submitter
p.Arg123Gln Single submitter
p.Arg1361His Single submitter
p.Arg429Trp Single submitter
p.Arg451Gln Single submitter
p.Asn1536= Single submitter
p.Asn1541Ser Single submitter
p.Asp1574= Single submitter
p.Asp792= Single submitter
p.Glu1166= Single submitter
p.Glu8= Single submitter
p.Gly1074Arg Single submitter
p.Gly1159Arg Single submitter
p.Gly1479Asp Single submitter
p.Gly1479Ser Single submitter
p.Gly485Ser Single submitter
p.Leu1084= Single submitter
p.Leu1229Pro Single submitter
p.Lys723Asn Single submitter
p.Lys742Thr Single submitter
p.Lys991= Single submitter
p.Met1083Thr Single submitter
p.Phe1154Leu Single submitter
p.Phe711Leu Single submitter
p.Pro1377Ser Single submitter
p.Pro681Leu Single submitter
p.Ser325Gly Single submitter
p.Ser658Arg Single submitter

Uncertain significance 220

p.Glu8Val Multiple submitters congenital fibrosis of extraocular muscles ⚠
p.Ala1050Thr Single submitter ⚠
p.Ala110Asp Single submitter ⚠
p.Ala1131Thr Single submitter ⚠
p.Ala1179Gly Single submitter ⚠
p.Ala1189Asp Single submitter ⚠
p.Ala1239Thr Single submitter ⚠
p.Ala1245Ser Single submitter ⚠
p.Ala1402Asp Single submitter ⚠
p.Ala1434Gly Single submitter ⚠
p.Ala1480Thr Single submitter ⚠
p.Ala1526Glu Single submitter ⚠
p.Ala153Pro Single submitter
p.Ala1594Ser Single submitter ⚠
p.Ala172Val Single submitter ⚠
p.Ala308Asp Single submitter ⚠
p.Ala370Thr Single submitter ⚠
p.Ala435Val Single submitter ⚠
p.Ala48Thr Single submitter ⚠
p.Ala510Thr Single submitter ⚠
p.Ala688Val Single submitter ⚠
p.Ala796Asp Single submitter ⚠
p.Ala796Pro Single submitter ⚠
p.Arg1133Thr Single submitter ⚠
p.Arg1172Lys Single submitter ⚠
p.Arg123Gly Single submitter ⚠
p.Arg135Leu Single submitter
p.Arg1405Gly Single submitter ⚠
p.Arg1405Pro Single submitter ⚠
p.Arg1430Thr Single submitter ⚠
p.Arg1436Trp Single submitter ⚠
p.Arg160Leu Single submitter ⚠
p.Arg160Ser Single submitter ⚠
p.Arg166Cys Single submitter ⚠
p.Arg196His Single submitter ⚠
p.Arg196Ser Single submitter ⚠
p.Arg213Trp Single submitter ⚠
p.Arg238Gly Single submitter ⚠
p.Arg253Gln Single submitter ⚠
p.Arg253Trp Single submitter ⚠
p.Arg25Trp Single submitter ⚠
p.Arg285Trp Single submitter
p.Arg312Gln Single submitter ⚠
p.Arg312Trp Single submitter ⚠
p.Arg337Lys Single submitter ⚠
p.Arg343Cys Single submitter ⚠
p.Arg381His Single submitter ⚠
p.Arg44Gln Single submitter ⚠
p.Arg70Gly Single submitter
p.Arg766Trp Single submitter ⚠
p.Arg81Cys Single submitter ⚠
p.Asn674His Single submitter ⚠
p.Asn740Lys Single submitter ⚠
p.Asn877Ile Single submitter ⚠
p.Asp1040Glu Single submitter ⚠
p.Asp1069Ala Single submitter ⚠
p.Asp1406Asn Single submitter ⚠
p.Asp1406Gly Single submitter ⚠
p.Asp621Gly Single submitter ⚠
p.Asp621Val Single submitter ⚠
p.Asp784Asn Single submitter ⚠
p.Asp947Tyr Single submitter ⚠
p.Asp976Asn Single submitter ⚠
p.Asp986Glu Single submitter ⚠
p.Cys1359Gly Single submitter ⚠
p.Cys1359Tyr Single submitter ⚠
p.Cys493Trp Single submitter ⚠
p.Gln1135Lys Single submitter ⚠
p.Gln11Glu Single submitter ⚠
p.Gln1324Glu Single submitter ⚠
p.Gln1392Arg Single submitter ⚠
p.Gln1395Pro Single submitter ⚠
p.Gln623His Single submitter ⚠
p.Gln629Pro Single submitter ⚠
p.Gln774Lys Single submitter ⚠
p.Glu1005Val Single submitter ⚠
p.Glu1011Lys Single submitter ⚠
p.Glu1061Lys Single submitter ⚠
p.Glu1138Lys Single submitter ⚠
p.Glu1156Lys Single submitter ⚠
p.Glu1209Lys Single submitter ⚠
p.Glu1240Lys Single submitter ⚠
p.Glu1318Lys Single submitter ⚠
p.Glu1354Lys Single submitter ⚠
p.Glu1421Gly Single submitter ⚠
p.Glu1610Gly Single submitter ⚠
p.Glu209Lys Single submitter ⚠
p.Glu247Ala Single submitter ⚠
p.Glu332Asp Single submitter ⚠
p.Glu431Asp Single submitter ⚠
p.Glu446Asp Single submitter ⚠
p.Glu453Ala Single submitter ⚠
p.Glu512Asp Single submitter ⚠
p.Glu522Lys Single submitter ⚠
p.Glu551Asp Single submitter ⚠
p.Glu590Lys Single submitter ⚠
p.Glu665Val Single submitter ⚠
p.Glu73Lys Single submitter ⚠
p.Glu78Lys Single submitter ⚠
p.Glu812Val Single submitter ⚠
p.Glu824Lys Single submitter ⚠
p.Glu835Lys Single submitter ⚠
p.Glu854Gly Single submitter ⚠
p.Glu937Lys Single submitter ⚠
p.Glu975Gln Single submitter ⚠
p.Glu996Gln Single submitter ⚠
p.Glu996Val Single submitter ⚠
p.Glu999Val Single submitter ⚠
p.Gly1033Ala Single submitter ⚠
p.Gly1052Val Single submitter ⚠
p.Gly1107Ala Single submitter ⚠
p.Gly1112Val Single submitter ⚠
p.Gly1171Ser Single submitter ⚠
p.Gly1241Arg Single submitter ⚠
p.Gly1251Arg Single submitter ⚠
p.Gly1274Ser Single submitter ⚠
p.Gly1292Arg Single submitter ⚠
p.Gly1352Arg Single submitter ⚠
p.Gly1381Arg Single submitter ⚠
p.Gly1391Ser Single submitter ⚠
p.Gly1433Ala Single submitter ⚠
p.Gly1455Arg Single submitter ⚠
p.Gly150Ala Single submitter ⚠
p.Gly1537Ser Single submitter ⚠
p.Gly1584Arg Single submitter ⚠
p.Gly233Arg Single submitter ⚠
p.Gly345Ala Single submitter ⚠
p.Gly419Ser Single submitter ⚠
p.Gly448Arg Single submitter ⚠
p.Gly499Arg Single submitter ⚠
p.Gly998Glu Single submitter ⚠
p.His1013Asn Single submitter ⚠
p.His463Arg Single submitter ⚠
p.His75Tyr Single submitter ⚠
p.Ile1271Ser Single submitter ⚠
p.Ile501Asn Single submitter ⚠
p.Ile795Val Single submitter ⚠
p.Leu1038Pro Single submitter ⚠
p.Leu1108Arg Single submitter ⚠
p.Leu1108Val Single submitter ⚠
p.Leu1124Val Single submitter ⚠
p.Leu1372Pro Single submitter ⚠
p.Leu306Gln Single submitter ⚠
p.Leu324Phe Single submitter ⚠
p.Leu428Pro Single submitter ⚠
p.Leu43Pro Single submitter ⚠
p.Leu441Pro Single submitter ⚠
p.Leu549Arg Single submitter ⚠
p.Leu560Pro Single submitter ⚠
p.Leu788Pro Single submitter ⚠
p.Leu980Val Single submitter ⚠
p.Lys1512Asn Single submitter ⚠
p.Lys1605Thr Single submitter ⚠
p.Lys591Glu Single submitter ⚠
p.Lys608Glu Single submitter ⚠
p.Lys74Gln Single submitter ⚠
p.Met293Leu Single submitter ⚠
p.Met636Leu Single submitter ⚠
p.Met636Val Single submitter ⚠
p.Phe10Cys Single submitter ⚠
p.Phe1369Leu Single submitter ⚠
p.Phe806Ser Single submitter ⚠
p.Pro1056Thr Single submitter ⚠
p.Pro1123Leu Single submitter ⚠
p.Pro1140Thr Single submitter ⚠
p.Pro1311Arg Single submitter ⚠
p.Pro1520His Single submitter ⚠
p.Pro1528Ser Single submitter ⚠
p.Pro162Arg Single submitter ⚠
p.Pro168Ser Single submitter ⚠
p.Pro316Ala Single submitter ⚠
p.Pro383Ser Single submitter ⚠
p.Pro392Ala Single submitter ⚠
p.Pro394Leu Single submitter ⚠
p.Pro411Ser Single submitter ⚠
p.Pro425Ser Single submitter ⚠
p.Pro427His Single submitter ⚠
p.Pro447Thr Single submitter ⚠
p.Pro469Ala Single submitter ⚠
p.Pro691Leu Single submitter ⚠
p.Pro848Leu Single submitter ⚠
p.Pro862Leu Single submitter ⚠
p.Pro943Leu Single submitter ⚠
p.Pro967Ser Single submitter ⚠
p.Ser1030Thr Single submitter ⚠
p.Ser1161Ile Single submitter ⚠
p.Ser1242Thr Single submitter ⚠
p.Ser1307Tyr Single submitter ⚠
p.Ser1451Asn Single submitter ⚠
p.Ser1466Arg Single submitter ⚠
p.Ser1506Ala Single submitter ⚠
p.Ser1560Pro Single submitter ⚠
p.Ser1571Ala Single submitter ⚠
p.Ser1571Cys Single submitter ⚠
p.Ser471Ile Single submitter ⚠
p.Ser564Asn Single submitter ⚠
p.Ser659Cys Single submitter ⚠
p.Ser743Leu Single submitter ⚠
p.Ser905Pro Single submitter ⚠
p.Thr1195Ala Single submitter ⚠
p.Thr1195Ile Single submitter ⚠
p.Thr1224Ala Single submitter ⚠
p.Thr1309Ile Single submitter ⚠
p.Thr1487Met Single submitter ⚠
p.Thr1589Ser Single submitter ⚠
p.Thr301Met Single submitter ⚠
p.Thr354Ser Single submitter ⚠
p.Thr668Pro Single submitter ⚠
p.Thr693Ser Single submitter ⚠
p.Thr954Met Single submitter ⚠
p.Trp1469Arg Single submitter
p.Val1048Met Single submitter ⚠
p.Val1443Asp Single submitter ⚠
p.Val505Ile Single submitter ⚠
p.Val539Ile Single submitter ⚠
p.Val603Glu Single submitter ⚠
p.Val67Ile Single submitter ⚠
p.Val683Ala Single submitter ⚠
p.Val783Gly Single submitter ⚠
p.Val91Ala Single submitter