DLEC1 — 335 ClinVar variants

All ClinVar germline DLEC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 283 flagged for review →

3 Conflicting · 12 Benign · 1 Benign/Likely benign · 33 Likely benign · 286 Uncertain significance

Full DLEC1 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 179

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 179

Predictors split 101

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

All DLEC1 variants

Conflicting classifications of pathogenicity 3

p.Arg1111Cys Single submitter ⚠
p.Arg193Lys Single submitter ⚠
p.Val853Ile Single submitter ⚠

Benign 12

p.Ala727= Multiple submitters
p.Asn885= Multiple submitters
p.Leu1672= Multiple submitters
p.Lys1022Asn Multiple submitters
p.Ser1268= Multiple submitters
p.Ser181= Multiple submitters
p.Ser192Phe Multiple submitters
c.3666+8T>C Single submitter
p.Ala395= Single submitter
p.Asn1150Asp Single submitter
p.Leu1227Pro Single submitter
p.Pro377Ala Single submitter

Benign/Likely benign 1

p.Leu871= Multiple submitters

Likely benign 33

p.Leu1219= Multiple submitters
p.Thr16Ile Multiple submitters
c.1757-6T>G Single submitter
c.2112+6G>C Single submitter
c.*6C>T Single submitter
p.Ala395Val Single submitter ⚠
p.Ala778Thr Single submitter
p.Arg1121Cys Single submitter
p.Arg1738Trp Single submitter ⚠
p.Arg1740Trp Single submitter ⚠
p.Arg627Gln Single submitter
p.Arg884Gln Single submitter
p.Asn1363Ser Single submitter
p.Cys231Tyr Single submitter
p.Glu284Gln Single submitter
p.Glu676Lys Single submitter
p.Glu840Lys Single submitter ⚠
p.Gly1731Ser Single submitter ⚠
p.His1234= Single submitter
p.Ile196Val Single submitter
p.Met1750Val Single submitter
p.Phe510= Single submitter
p.Pro84Ser Single submitter
p.Ser1498= Single submitter
p.Ser1717Asn Single submitter ⚠
p.Ser1744= Single submitter
p.Ser208Cys Single submitter
p.Ser294Gly Single submitter
p.Ser814Asn Single submitter
p.Thr401= Single submitter
p.Thr401Ala Single submitter
p.Tyr51Cys Single submitter
p.Val1325Leu Single submitter

Uncertain significance 286

c.*105G>A Single submitter
c.*117G>C Single submitter
c.*1G>C Single submitter
c.*39G>A Single submitter
c.*43A>C Single submitter
c.*45A>G Single submitter
c.*57G>T Single submitter
c.*62G>A Single submitter
c.*71C>A Single submitter
p.Ala1040Thr Single submitter ⚠
p.Ala1050Ser Single submitter ⚠
p.Ala1105Val Single submitter ⚠
p.Ala1320Thr Single submitter ⚠
p.Ala13Val Single submitter ⚠
p.Ala1426Thr Single submitter ⚠
p.Ala1466Pro Single submitter ⚠
p.Ala1533Val Single submitter ⚠
p.Ala159Pro Single submitter ⚠
p.Ala161Gly Single submitter ⚠
p.Ala161Val Single submitter ⚠
p.Ala165Val Single submitter ⚠
p.Ala25Val Single submitter ⚠
p.Ala417Asp Single submitter ⚠
p.Ala431Ser Single submitter ⚠
p.Arg1111His Single submitter ⚠
p.Arg1114His Single submitter ⚠
p.Arg1125Trp Single submitter ⚠
p.Arg1127Cys Single submitter ⚠
p.Arg1127His Single submitter ⚠
p.Arg1160Gln Single submitter ⚠
p.Arg1168Gln Single submitter ⚠
p.Arg1246Lys Single submitter ⚠
p.Arg1288Cys Single submitter ⚠
p.Arg1288Gly Single submitter ⚠
p.Arg1317Gln Single submitter ⚠
p.Arg139Gln Single submitter ⚠
p.Arg154Lys Single submitter ⚠
p.Arg15Gln Single submitter ⚠
p.Arg1627Trp Single submitter ⚠
p.Arg162Leu Single submitter ⚠
p.Arg162Trp Single submitter ⚠
p.Arg1666Pro Single submitter ⚠
p.Arg169Gln Single submitter ⚠
p.Arg1740Gln Single submitter ⚠
p.Arg1748Lys Single submitter ⚠
p.Arg184Gly Single submitter ⚠
p.Arg323Gln Single submitter ⚠
p.Arg323Trp Single submitter ⚠
p.Arg331Pro Single submitter ⚠
p.Arg471Gln Single submitter ⚠
p.Arg627Trp Single submitter ⚠
p.Arg872His Single submitter ⚠
p.Arg9Trp Single submitter ⚠
p.Asn102Ser Single submitter ⚠
p.Asn1611Thr Single submitter ⚠
p.Asn1618Ser Single submitter ⚠
p.Asn17Ser Single submitter ⚠
p.Asn398Ser Single submitter ⚠
p.Asn502Ile Single submitter ⚠
p.Asn783Lys Single submitter ⚠
p.Asn879Asp Single submitter ⚠
p.Asn951Ile Single submitter ⚠
p.Asp1271Glu Single submitter ⚠
p.Asp1290His Single submitter ⚠
p.Asp1486Asn Single submitter ⚠
p.Asp254Glu Single submitter ⚠
p.Asp268Glu Single submitter ⚠
p.Asp445Asn Single submitter ⚠
p.Asp445Glu Single submitter ⚠
p.Asp575Asn Single submitter ⚠
p.Asp594Glu Single submitter ⚠
p.Asp674Asn Single submitter ⚠
p.Asp798Asn Single submitter ⚠
p.Cys1032Gly Single submitter ⚠
p.Cys1422Phe Single submitter ⚠
p.Cys1735= Single submitter
p.Cys1735Ser Single submitter ⚠
p.Cys488Tyr Single submitter ⚠
p.Gln1043Arg Single submitter ⚠
p.Gln1192Arg Single submitter ⚠
p.Gln1192His Single submitter ⚠
p.Gln1256Arg Single submitter ⚠
p.Gln1589Arg Single submitter ⚠
p.Gln1651Lys Single submitter ⚠
p.Gln1754= Single submitter
p.Gln20Arg Single submitter ⚠
p.Gln309Glu Single submitter ⚠
p.Gln589Leu Single submitter ⚠
p.Gln713His Single submitter ⚠
p.Gln755His Single submitter ⚠
p.Gln882His Single submitter ⚠
p.Gln888His Single submitter ⚠
p.Gln920Arg Single submitter ⚠
p.Glu1031Val Single submitter ⚠
p.Glu1133Gln Single submitter ⚠
p.Glu1169Gly Single submitter ⚠
p.Glu1214Lys Single submitter ⚠
p.Glu1378Asp Single submitter ⚠
p.Glu1490Lys Single submitter ⚠
p.Glu1732Asp Single submitter ⚠
p.Glu180Lys Single submitter ⚠
p.Glu239Lys Single submitter ⚠
p.Glu53Lys Single submitter ⚠
p.Glu695Lys Single submitter ⚠
p.Glu759Lys Single submitter ⚠
p.Glu76Lys Single submitter ⚠
p.Glu76Val Single submitter ⚠
p.Glu946Asp Single submitter ⚠
p.Gly1009Arg Single submitter ⚠
p.Gly1136Arg Single submitter ⚠
p.Gly1264Ser Single submitter ⚠
p.Gly1269Arg Single submitter ⚠
p.Gly1269Glu Single submitter ⚠
p.Gly1270Val Single submitter ⚠
p.Gly1321Arg Single submitter ⚠
p.Gly1383Ser Single submitter ⚠
p.Gly1399Arg Single submitter ⚠
p.Gly1399Asp Single submitter ⚠
p.Gly341Asp Single submitter ⚠
p.Gly425Ala Single submitter ⚠
p.Gly486Asp Single submitter ⚠
p.Gly508Ser Single submitter ⚠
p.Gly749Ala Single submitter ⚠
p.Gly794Arg Single submitter ⚠
p.Gly826Cys Single submitter ⚠
p.His1189Arg Single submitter ⚠
p.His550Arg Single submitter ⚠
p.His550Asn Single submitter ⚠
p.His691Asp Single submitter ⚠
p.His691Tyr Single submitter ⚠
p.His694Tyr Single submitter ⚠
p.His732Arg Single submitter ⚠
p.Ile1220Thr Single submitter ⚠
p.Ile138Phe Single submitter ⚠
p.Ile394Phe Single submitter ⚠
p.Ile439Leu Single submitter ⚠
p.Ile552Met Single submitter ⚠
p.Ile587Val Single submitter ⚠
p.Ile619Thr Single submitter ⚠
p.Ile764Val Single submitter ⚠
p.Ile771Thr Single submitter ⚠
p.Ile801Val Single submitter ⚠
p.Ile861Met Single submitter ⚠
p.Ile914Thr Single submitter ⚠
p.Leu1073Met Single submitter ⚠
p.Leu1165Met Single submitter ⚠
p.Leu1201Arg Single submitter ⚠
p.Leu1374Pro Single submitter ⚠
p.Leu1417Pro Single submitter ⚠
p.Leu1459Pro Single submitter ⚠
p.Leu1520Phe Single submitter ⚠
p.Leu1591Val Single submitter ⚠
p.Leu1659Val Single submitter ⚠
p.Leu1730= Single submitter
p.Leu234Gln Single submitter ⚠
p.Leu290Phe Single submitter ⚠
p.Leu305Ser Single submitter ⚠
p.Leu483Trp Single submitter ⚠
p.Leu483Val Single submitter ⚠
p.Leu489Phe Single submitter ⚠
p.Leu626Val Single submitter ⚠
p.Leu933Val Single submitter ⚠
p.Leu980Ile Single submitter ⚠
p.Leu982Arg Single submitter ⚠
p.Leu997Phe Single submitter ⚠
p.Lys119Glu Single submitter ⚠
p.Lys1257Met Single submitter ⚠
p.Lys1299Glu Single submitter ⚠
p.Lys1391Arg Single submitter ⚠
p.Lys233Arg Single submitter ⚠
p.Lys291Arg Single submitter ⚠
p.Lys350Thr Single submitter ⚠
p.Lys561Glu Single submitter ⚠
p.Lys795Arg Single submitter ⚠
p.Met1174Val Single submitter ⚠
p.Met1194Val Single submitter ⚠
p.Met1235Ile Single submitter ⚠
p.Met1410Val Single submitter ⚠
p.Met1430Thr Single submitter ⚠
p.Met1521Ile Single submitter ⚠
p.Met1671Thr Single submitter ⚠
p.Met302Ile Single submitter ⚠
p.Met302Thr Single submitter ⚠
p.Met495Leu Single submitter ⚠
p.Met666Val Single submitter ⚠
p.Phe149Ser Single submitter ⚠
p.Phe1573Ile Single submitter ⚠
p.Phe1644Cys Single submitter ⚠
p.Phe912Leu Single submitter ⚠
p.Pro1312Ser Single submitter ⚠
p.Pro1313Leu Single submitter ⚠
p.Pro1315Gln Single submitter ⚠
p.Pro1327Ser Single submitter ⚠
p.Pro1454Leu Single submitter ⚠
p.Pro1525Ser Single submitter ⚠
p.Pro1625Ser Single submitter ⚠
p.Pro218Leu Single submitter ⚠
p.Pro223Ser Single submitter ⚠
p.Pro289Thr Single submitter esophageal cancer ⚠
p.Pro330Thr Single submitter ⚠
p.Pro410Leu Single submitter ⚠
p.Pro467Ala Single submitter ⚠
p.Pro467Arg Single submitter ⚠
p.Pro514His Single submitter ⚠
p.Pro548Gln Single submitter ⚠
p.Pro548Leu Single submitter ⚠
p.Pro548Ser Single submitter ⚠
p.Pro766Leu Single submitter ⚠
p.Pro843Arg Single submitter ⚠
p.Pro857Leu Single submitter ⚠
p.Pro911Ala Single submitter ⚠
p.Pro958Leu Single submitter ⚠
p.Ser1083Arg Single submitter ⚠
p.Ser1129Pro Single submitter ⚠
p.Ser11Tyr Single submitter ⚠
p.Ser123Gly Single submitter ⚠
p.Ser1283Cys Single submitter ⚠
p.Ser1345Leu Single submitter ⚠
p.Ser1345Pro Single submitter ⚠
p.Ser1434Arg Single submitter ⚠
p.Ser1469Thr Single submitter ⚠
p.Ser1477Asn Single submitter ⚠
p.Ser14Cys Single submitter ⚠
p.Ser35Asn Single submitter ⚠
p.Ser44Phe Single submitter ⚠
p.Ser47Thr Single submitter ⚠
p.Ser517Arg Single submitter ⚠
p.Ser52Cys Single submitter ⚠
p.Ser5Gly Single submitter ⚠
p.Ser668Thr Single submitter ⚠
p.Ser699Arg Single submitter ⚠
p.Ser729Thr Single submitter ⚠
p.Ser842Leu Single submitter ⚠
p.Ser85Phe Single submitter ⚠
p.Ser86Leu Single submitter ⚠
p.Ser887Asn Single submitter ⚠
p.Ser93Leu Single submitter ⚠
p.Thr1110Ala Single submitter ⚠
p.Thr1265Ala Single submitter ⚠
p.Thr1265Ser Single submitter ⚠
p.Thr1276Ile Single submitter ⚠
p.Thr1351Ser Single submitter ⚠
p.Thr1617Ala Single submitter ⚠
p.Thr1621Pro Single submitter ⚠
p.Thr216Ser Single submitter ⚠
p.Thr382Lys Single submitter ⚠
p.Thr3Pro Single submitter ⚠
p.Thr413Met Single submitter ⚠
p.Thr496Ile Single submitter ⚠
p.Thr611Ala Single submitter ⚠
p.Thr640Ser Single submitter ⚠
p.Thr892Ser Single submitter ⚠
p.Thr932Ala Single submitter ⚠
p.Thr986Met Single submitter ⚠
p.Trp1337Arg Single submitter ⚠
p.Trp648Arg Single submitter ⚠
p.Tyr1215Cys Single submitter ⚠
p.Tyr1310His Single submitter ⚠
p.Tyr1425His Single submitter ⚠
p.Tyr1462His Single submitter ⚠
p.Tyr1582Cys Single submitter ⚠
p.Tyr1658Cys Single submitter ⚠
p.Tyr1745Cys Single submitter ⚠
p.Tyr1749Asp Single submitter ⚠
p.Tyr384Asp Single submitter ⚠
p.Tyr405Cys Single submitter ⚠
p.Tyr956His Single submitter ⚠
p.Val1325Met Single submitter ⚠
p.Val132Ala Single submitter ⚠
p.Val1372Ala Single submitter ⚠
p.Val1463Met Single submitter ⚠
p.Val1528Ile Single submitter ⚠
p.Val1629Ala Single submitter ⚠
p.Val476Met Single submitter ⚠
p.Val482Gly Single submitter ⚠
p.Val482Met Single submitter ⚠
p.Val642Leu Single submitter ⚠
p.Val642Met Single submitter ⚠
p.Val756Phe Single submitter ⚠
p.Val827Ile Single submitter ⚠
p.Val847Leu Single submitter ⚠
p.Val863Ile Single submitter ⚠
p.Val863Leu Single submitter ⚠
p.Val949Met Single submitter ⚠
p.Val963Leu Single submitter ⚠
p.Val984Ala Single submitter ⚠