CNTLN — 257 ClinVar variants

All ClinVar germline CNTLN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

8 Benign · 11 Likely benign · 238 Uncertain significance

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

All CNTLN variants

Benign 8

c.3115-9A>T Multiple submitters
p.Ala1256= Multiple submitters
p.Asp553Glu Multiple submitters
p.Gln800= Multiple submitters
p.Ser404Asn Multiple submitters
c.2891-4G>T Single submitter
p.Ala305Ser Single submitter
p.Leu784= Single submitter

Likely benign 11

p.Ala488Thr Single submitter
p.Arg1300Gln Single submitter
p.Arg253His Single submitter
p.Asp863= Single submitter
p.Gly71Arg Single submitter
p.Ile645Val Single submitter
p.Met498Leu Single submitter
p.Pro442Ser Single submitter
p.Thr1282Ile Single submitter
p.Val296Ile Single submitter
p.Ala575Ser No assertion criteria EBV-positive nodal T- and NK-cell lymphoma

Uncertain significance 238

p.Phe935Leu Multiple submitters
p.Ala1005Val Single submitter
p.Ala1248Thr Single submitter
p.Ala1286Pro Single submitter
p.Ala1314Gly Single submitter
p.Ala1326Val Single submitter
p.Ala1377Pro Single submitter
p.Ala29Val Single submitter
p.Ala558Val Single submitter
p.Ala72Thr Single submitter
p.Ala72Val Single submitter
p.Ala75Gly Single submitter
p.Ala833Val Single submitter
p.Arg101Gln Single submitter
p.Arg1048Gln Single submitter
p.Arg1078Gln Single submitter
p.Arg1078Trp Single submitter
p.Arg1138Gln Single submitter
p.Arg1156Gln Single submitter
p.Arg1198Lys Single submitter
p.Arg1334Gln Single submitter
p.Arg1334Leu Single submitter
p.Arg1334Trp Single submitter
p.Arg193Trp Single submitter
p.Arg265Thr Single submitter
p.Arg402Gln Single submitter
p.Arg451His Single submitter
p.Arg494Gln Single submitter
p.Arg532Ser Single submitter
p.Arg562His Single submitter
p.Arg620Gly Single submitter
p.Arg676Thr Single submitter
p.Arg700Gln Single submitter
p.Arg700Trp Single submitter
p.Arg785Gly Single submitter
p.Arg841Cys Single submitter
p.Arg841Gly Single submitter
p.Arg841His Single submitter
p.Arg987Gly Single submitter
p.Arg987Trp Single submitter
p.Asn1389His Single submitter
p.Asn368Ser Single submitter
p.Asn407Asp Single submitter
p.Asn572Ser Single submitter
p.Asn782Lys Single submitter
p.Asn971Ser Single submitter
p.Asp1152Asn Single submitter
p.Asp122Gly Single submitter
p.Asp122Val Single submitter
p.Asp217His Single submitter
p.Asp217Val Single submitter
p.Asp361Val Single submitter
p.Asp607Val Single submitter
p.Asp671Asn Single submitter
p.Asp723Asn Single submitter
p.Asp735His Single submitter
p.Asp874His Single submitter
p.Asp902Val Single submitter
p.Cys656Ser Single submitter
p.Gln1024Glu Single submitter
p.Gln103His Single submitter
p.Gln1211His Single submitter
p.Gln1211Lys Single submitter
p.Gln1301Lys Single submitter
p.Gln1323His Single submitter
p.Gln1346Leu Single submitter
p.Gln178Leu Single submitter
p.Gln340His Single submitter
p.Gln348Lys Single submitter
p.Gln363Arg Single submitter
p.Gln409Arg Single submitter
p.Gln411Arg Single submitter
p.Gln417Arg Single submitter
p.Gln427Lys Single submitter
p.Gln570Arg Single submitter
p.Gln878His Single submitter
p.Gln903Arg Single submitter
p.Gln921Arg Single submitter
p.Gln946Arg Single submitter
p.Gln975Pro Single submitter
p.Gln992Glu Single submitter
p.Glu1006Asp Single submitter
p.Glu1006Val Single submitter
p.Glu1050Asp Single submitter
p.Glu1059Lys Single submitter
p.Glu1069Lys Single submitter
p.Glu1134Gly Single submitter
p.Glu1236Gln Single submitter
p.Glu1278Ala Single submitter
p.Glu1278Lys Single submitter
p.Glu1344Asp Single submitter
p.Glu1382Asp Single submitter
p.Glu180Gln Single submitter
p.Glu207Lys Single submitter
p.Glu37Asp Single submitter
p.Glu37Val Single submitter
p.Glu539Gly Single submitter
p.Glu606Ala Single submitter
p.Glu61Gly Single submitter
p.Glu61Lys Single submitter
p.Glu621Asp Single submitter
p.Glu635Asp Single submitter
p.Glu659Asp Single submitter
p.Glu688Gln Single submitter
p.Glu737Lys Single submitter
p.Glu740Lys Single submitter
p.Glu744Gln Single submitter
p.Glu744Lys Single submitter
p.Gly1046Arg Single submitter
p.Gly28Glu Single submitter
p.Gly588Asp Single submitter
p.Gly588Ser Single submitter
p.Gly68Arg Single submitter
p.Gly70Ala Single submitter
p.Gly714Arg Single submitter
p.His1021Tyr Single submitter
p.His559Asn Single submitter
p.His642Arg Single submitter
p.His842Asp Single submitter
p.Ile1079Met Single submitter
p.Ile1129Val Single submitter
p.Ile1192Thr Single submitter
p.Ile1234Arg Single submitter
p.Ile1329Val Single submitter
p.Ile1354Phe Single submitter
p.Ile1405Thr Single submitter
p.Ile290Ser Single submitter
p.Ile378Val Single submitter
p.Ile538Phe Single submitter
p.Ile538Val Single submitter
p.Ile56Asn Single submitter
p.Ile56Met Single submitter
p.Ile650Met Single submitter
p.Ile887Thr Single submitter
p.Ile919Arg Single submitter
p.Ile989Leu Single submitter
p.Leu1047Phe Single submitter
p.Leu1092Met Single submitter
p.Leu1101Val Single submitter
p.Leu1229Phe Single submitter
p.Leu1370Val Single submitter
p.Leu1380Ser Single submitter
p.Leu1385Gln Single submitter
p.Leu140Val Single submitter
p.Leu190Phe Single submitter
p.Leu289Ser Single submitter
p.Leu408Ile Single submitter
p.Leu412Val Single submitter
p.Leu625Pro Single submitter
p.Leu760Arg Single submitter
p.Leu79Pro Single submitter
p.Leu79Val Single submitter
p.Lys1049Glu Single submitter
p.Lys1095Met Single submitter
p.Lys1177Glu Single submitter
p.Lys1206Asn Single submitter
p.Lys1222Glu Single submitter
p.Lys123Asn Single submitter
p.Lys1289Glu Single submitter
p.Lys1310Glu Single submitter
p.Lys1391Gln Single submitter
p.Lys1391Thr Single submitter
p.Lys1392Arg Single submitter
p.Lys169Arg Single submitter
p.Lys275Arg Single submitter
p.Lys275Gln Single submitter
p.Lys481Thr Single submitter
p.Lys619Arg Single submitter
p.Lys675Glu Single submitter
p.Lys822Glu Single submitter
p.Lys951Arg Single submitter
p.Met1241Val Single submitter
p.Met1402Leu Single submitter
p.Met360Thr Single submitter
p.Met498Thr Single submitter
p.Met795Thr Single submitter
p.Met812Arg Single submitter
p.Met84Ile Single submitter
p.Met853Ile Single submitter
p.Met952Leu Single submitter
p.Met952Lys Single submitter
p.Met98Thr Single submitter
p.Phe1030Leu Single submitter
p.Pro13Leu Single submitter
p.Pro14Ser Single submitter
p.Pro20His Single submitter
p.Pro509Ser Single submitter
p.Pro518Arg Single submitter
p.Pro7Leu Single submitter
p.Pro961Arg Single submitter
p.Pro9Ser Single submitter
p.Ser1026Cys Single submitter
p.Ser1062Cys Single submitter
p.Ser1085Asn Single submitter
p.Ser128Cys Single submitter
p.Ser12Leu Single submitter
p.Ser1333Leu Single submitter
p.Ser251Asn Single submitter
p.Ser307Pro Single submitter
p.Ser39Leu Single submitter
p.Ser455Pro Single submitter
p.Ser668Phe Single submitter
p.Ser677Asn Single submitter
p.Ser765Arg Single submitter
p.Ser801Pro Single submitter
p.Ser81Ile Single submitter
p.Ser838Pro Single submitter
p.Ser854Gly Single submitter
p.Ser875Cys Single submitter
p.Ser956Leu Single submitter
p.Ser996Gly Single submitter
p.Thr1180Pro Single submitter
p.Thr1269Ala Single submitter
p.Thr1400Lys Single submitter
p.Thr459Lys Single submitter
p.Thr499Pro Single submitter
p.Thr590Asn Single submitter
p.Thr590Ser Single submitter
p.Thr738Ala Single submitter
p.Thr882Ser Single submitter
p.Thr885Lys Single submitter
p.Thr897Met Single submitter
p.Thr922Ala Single submitter
p.Thr962Ala Single submitter
p.Trp612Arg Single submitter
p.Tyr819Cys Single submitter
p.Tyr934Ser Single submitter
p.Val1081Ile Single submitter
p.Val1115Met Single submitter
p.Val1347Ala Single submitter
p.Val135Leu Single submitter
p.Val143Met Single submitter
p.Val182Ala Single submitter
p.Val298Ile Single submitter
p.Val448Glu Single submitter
p.Val641Ile Single submitter
p.Val657Leu Single submitter
p.Val960Gly Single submitter