KNTC1 — 234 ClinVar variants

All ClinVar germline KNTC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 218 flagged for review →

10 Likely benign · 224 Uncertain significance

Full KNTC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 218

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 189

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 189

Predictors split 29

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

All KNTC1 variants

Likely benign 10

p.Ala2154Val Single submitter
p.Arg1399Cys Single submitter
p.Arg1399His Single submitter
p.Asn1127Ser Single submitter
p.Asn1783Ser Single submitter
p.His1641= Single submitter
p.Ser2126= Single submitter
p.Ser890Pro Single submitter
p.Thr449= Single submitter
p.Val371Ile Single submitter

Uncertain significance 224

c.6369+3A>T Single submitter microcephaly
p.Ala1056Thr Single submitter ⚠
p.Ala1058Val Single submitter ⚠
p.Ala1083Thr Single submitter ⚠
p.Ala1435Thr Single submitter ⚠
p.Ala1707Val Single submitter ⚠
p.Ala1845Asp Single submitter ⚠
p.Ala2017Thr Single submitter ⚠
p.Ala394Val Single submitter ⚠
p.Ala439Ser Single submitter ⚠
p.Ala520Thr Single submitter ⚠
p.Ala593Pro Single submitter ⚠
p.Ala63Thr Single submitter ⚠
p.Ala785Val Single submitter ⚠
p.Ala788Val Single submitter ⚠
p.Ala807Thr Single submitter
p.Ala813Val Single submitter ⚠
p.Ala814Pro Single submitter ⚠
p.Ala956Val Single submitter ⚠
p.Arg104Gly Single submitter ⚠
p.Arg1228Thr Single submitter ⚠
p.Arg133Trp Single submitter ⚠
p.Arg1489Trp Single submitter ⚠
p.Arg1490Trp Single submitter ⚠
p.Arg1539Gln Single submitter ⚠
p.Arg1729Cys Single submitter ⚠
p.Arg1744Trp Single submitter ⚠
p.Arg1856His Single submitter ⚠
p.Arg1888Gln Single submitter ⚠
p.Arg402Gln Single submitter ⚠
p.Arg496Lys Single submitter ⚠
p.Arg578Gly Single submitter ⚠
p.Arg746Ile Single submitter ⚠
p.Arg866Lys Single submitter ⚠
p.Asn1721Thr Single submitter ⚠
p.Asn2113Ser Single submitter ⚠
p.Asn2165Asp Single submitter ⚠
p.Asn246Asp Single submitter ⚠
p.Asn3Ser Single submitter ⚠
p.Asn47Lys Single submitter ⚠
p.Asn606Asp Single submitter ⚠
p.Asn703Ser Single submitter ⚠
p.Asp11Glu Single submitter ⚠
p.Asp1373Gly Single submitter ⚠
p.Asp1443Asn Single submitter ⚠
p.Asp144Gly Single submitter ⚠
p.Asp1457Ala Single submitter ⚠
p.Asp1481Tyr Single submitter ⚠
p.Asp2174Asn Single submitter ⚠
p.Asp236Asn Single submitter ⚠
p.Asp456Gly Single submitter ⚠
p.Asp457Asn Single submitter ⚠
p.Asp551Val Single submitter ⚠
p.Asp794Val Single submitter
p.Asp826Tyr Single submitter ⚠
p.Asp879Asn Single submitter ⚠
p.Asp891Val Single submitter ⚠
p.Cys2187Arg Single submitter ⚠
p.Cys228Ser Single submitter ⚠
p.Cys704Tyr Single submitter ⚠
p.Gln1784Glu Single submitter ⚠
p.Gln2148Glu Single submitter ⚠
p.Gln312Arg Single submitter ⚠
p.Gln32Arg Single submitter
p.Gln466Arg Single submitter ⚠
p.Gln677Pro Single submitter ⚠
p.Gln871Glu Single submitter ⚠
p.Glu103Lys Single submitter ⚠
p.Glu1531Asp Single submitter ⚠
p.Glu1615Lys Single submitter ⚠
p.Glu1644Lys Single submitter ⚠
p.Glu1760Lys Single submitter ⚠
p.Glu1778Lys Single submitter ⚠
p.Glu1806Lys Single submitter ⚠
p.Glu2043Lys Single submitter ⚠
p.Glu2050Lys Single submitter ⚠
p.Glu436Gly Single submitter ⚠
p.Glu979Gln Single submitter ⚠
p.Gly1100Ala Single submitter ⚠
p.Gly1412Asp Single submitter ⚠
p.Gly14Arg Single submitter ⚠
p.Gly1981Glu Single submitter ⚠
p.Gly313Glu Single submitter ⚠
p.Gly511Ala Single submitter ⚠
p.Gly58Glu Single submitter ⚠
p.His1133Pro Single submitter ⚠
p.His1579Asp Single submitter ⚠
p.His1755Arg Single submitter ⚠
p.His1885Arg Single submitter ⚠
p.His2006Arg Single submitter ⚠
p.His202Arg Single submitter
p.Ile1378Val Single submitter ⚠
p.Ile1466Val Single submitter ⚠
p.Ile1674Met Single submitter ⚠
p.Ile1681Met Single submitter ⚠
p.Ile1766Met Single submitter ⚠
p.Ile1804Val Single submitter ⚠
p.Ile1902Met Single submitter ⚠
p.Ile2060Phe Single submitter ⚠
p.Ile320Thr Single submitter ⚠
p.Ile61Val Single submitter ⚠
p.Ile851Met Single submitter ⚠
p.Ile931Val Single submitter ⚠
p.Ile932Val Single submitter ⚠
p.Leu1102Trp Single submitter ⚠
p.Leu1114Phe Single submitter ⚠
p.Leu1126Gln Single submitter ⚠
p.Leu1331Pro Single submitter ⚠
p.Leu1351Val Single submitter ⚠
p.Leu1380Pro Single submitter ⚠
p.Leu1622Ile Single submitter ⚠
p.Leu1694Phe Single submitter ⚠
p.Leu1824Arg Single submitter ⚠
p.Leu1853Phe Single submitter ⚠
p.Leu1976Pro Single submitter ⚠
p.Leu2038Pro Single submitter ⚠
p.Leu2127Arg Single submitter ⚠
p.Leu2129Ser Single submitter ⚠
p.Leu2171Ile Single submitter ⚠
p.Leu2173Ser Single submitter ⚠
p.Leu261Met Single submitter ⚠
p.Leu391Val Single submitter ⚠
p.Leu425Pro Single submitter ⚠
p.Leu69Ser Single submitter ⚠
p.Leu79Phe Single submitter ⚠
p.Leu7Met Single submitter ⚠
p.Leu823Gln Single submitter
p.Leu912Phe Single submitter ⚠
p.Leu99Pro Single submitter ⚠
p.Lys1318Asn Single submitter ⚠
p.Lys143Glu Single submitter ⚠
p.Lys1650Glu Single submitter ⚠
p.Lys1658Thr Single submitter ⚠
p.Lys1802Glu Single submitter ⚠
p.Lys2087Glu Single submitter ⚠
p.Lys2145Arg Single submitter ⚠
p.Lys239Asn Single submitter ⚠
p.Lys477Arg Single submitter ⚠
p.Lys503Thr Single submitter ⚠
p.Lys726Glu Single submitter ⚠
p.Lys831Glu Single submitter ⚠
p.Lys971Thr Single submitter ⚠
p.Lys988Glu Single submitter ⚠
p.Met1313Ile Single submitter ⚠
p.Met1442Arg Single submitter ⚠
p.Met1484Val Single submitter ⚠
p.Met1529Ile Single submitter ⚠
p.Met1576Ile Single submitter ⚠
p.Met1576Lys Single submitter ⚠
p.Met2082Val Single submitter ⚠
p.Met840Thr Single submitter ⚠
p.Met842Leu Single submitter ⚠
p.Phe1629Ile Single submitter ⚠
p.Phe2014Cys Single submitter ⚠
p.Pro1567Leu Single submitter ⚠
p.Pro1568Thr Single submitter ⚠
p.Pro1723Ala Single submitter ⚠
p.Pro2052Ala Single submitter ⚠
p.Pro2072Ala Single submitter ⚠
p.Pro2072Ser Single submitter ⚠
p.Pro2193Ala Single submitter ⚠
p.Pro285Leu Single submitter ⚠
p.Pro919Leu Single submitter ⚠
p.Ser1047Gly Single submitter ⚠
p.Ser115Thr Single submitter ⚠
p.Ser1198Asn Single submitter ⚠
p.Ser1226Gly Single submitter ⚠
p.Ser1254Pro Single submitter ⚠
p.Ser1516Gly Single submitter ⚠
p.Ser1660Leu Single submitter ⚠
p.Ser1706Pro Single submitter ⚠
p.Ser1724Leu Single submitter ⚠
p.Ser182Ile Single submitter ⚠
p.Ser1855Phe Single submitter ⚠
p.Ser1915Phe Single submitter ⚠
p.Ser291Phe Single submitter ⚠
p.Ser667Phe Single submitter ⚠
p.Ser812Asn Single submitter ⚠
p.Ser875Tyr Single submitter ⚠
p.Ser890Tyr Single submitter ⚠
p.Thr1328Ala Single submitter ⚠
p.Thr1468Met Single submitter ⚠
p.Thr157Ile Single submitter ⚠
p.Thr1610Ala Single submitter ⚠
p.Thr1661Lys Single submitter ⚠
p.Thr183Arg Single submitter ⚠
p.Thr1870Ala Single submitter ⚠
p.Thr1874Ala Single submitter ⚠
p.Thr392Lys Single submitter ⚠
p.Thr392Met Single submitter ⚠
p.Thr504Ala Single submitter ⚠
p.Thr659Ile Single submitter ⚠
p.Thr793Met Single submitter ⚠
p.Thr85Ala Single submitter ⚠
p.Trp1362Arg Single submitter ⚠
p.Trp1407Leu Single submitter ⚠
p.Trp311Cys Single submitter ⚠
p.Trp933Cys Single submitter ⚠
p.Tyr1188His Single submitter ⚠
p.Tyr152Cys Single submitter ⚠
p.Tyr152Ser Single submitter ⚠
p.Tyr158Cys Single submitter ⚠
p.Tyr1860Phe Single submitter ⚠
p.Tyr1895His Single submitter ⚠
p.Tyr1935Cys Single submitter ⚠
p.Tyr526His Single submitter ⚠
p.Tyr849Cys Single submitter ⚠
p.Val1012Leu Single submitter ⚠
p.Val101Ala Single submitter ⚠
p.Val1162Ile Single submitter ⚠
p.Val1209Met Single submitter ⚠
p.Val1221Ala Single submitter ⚠
p.Val1437Leu Single submitter ⚠
p.Val1569Met Single submitter ⚠
p.Val2021Met Single submitter ⚠
p.Val2048Ile Single submitter ⚠
p.Val268Ile Single submitter ⚠
p.Val294Leu Single submitter ⚠
p.Val371Gly Single submitter ⚠
p.Val426Leu Single submitter ⚠
p.Val515Met Single submitter ⚠
p.Val562Phe Single submitter ⚠
p.Val854Ile Single submitter ⚠
p.Ser2209Leu No assertion criteria prostate cancer ⚠