CEP170B — 431 ClinVar variants
All ClinVar germline CEP170B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
30 Benign · 52 Likely benign · 349 Uncertain significance
Full CEP170B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll CEP170B variants
Benign 30
- p.Ala259Val Multiple submitters
- p.Arg147= Multiple submitters
- c.3879-7G>C No assertion criteria CEP170B-related disorder
- c.3879-8G>A No assertion criteria CEP170B-related disorder
- p.Ala373= No assertion criteria CEP170B-related disorder
- p.Ala432= No assertion criteria CEP170B-related disorder
- p.Ala441= No assertion criteria CEP170B-related disorder
- p.Ala584= No assertion criteria CEP170B-related disorder
- p.Ala713= No assertion criteria CEP170B-related disorder
- p.Arg771_Ser772del No assertion criteria CEP170B-related disorder
- p.Asp1272Glu No assertion criteria CEP170B-related disorder
- p.Asp561= No assertion criteria CEP170B-related disorder
- p.Gly790Arg No assertion criteria CEP170B-related disorder
- p.His354= No assertion criteria CEP170B-related disorder
- p.Ile271= No assertion criteria CEP170B-related disorder
- p.Lys114= No assertion criteria CEP170B-related disorder
- p.Lys968Gln No assertion criteria CEP170B-related disorder
- p.Phe226= No assertion criteria CEP170B-related disorder
- p.Phe89= No assertion criteria CEP170B-related disorder
- p.Pro106= No assertion criteria CEP170B-related disorder
- p.Pro1404= No assertion criteria CEP170B-related disorder
- p.Pro198= No assertion criteria CEP170B-related disorder
- p.Pro236Leu No assertion criteria CEP170B-related disorder
- p.Pro298Leu No assertion criteria CEP170B-related disorder
- p.Pro544= No assertion criteria CEP170B-related disorder
- p.Pro812Leu No assertion criteria CEP170B-related disorder
- p.Pro854Ala No assertion criteria CEP170B-related disorder
- p.Ser1239= No assertion criteria CEP170B-related disorder
- p.Ser692Phe No assertion criteria CEP170B-related disorder
- p.Thr413= No assertion criteria CEP170B-related disorder
Likely benign 52
- p.Ala1053= Single submitter
- p.Ala1476= Single submitter
- p.Ala184Thr Single submitter
- p.Ala814Thr Single submitter
- p.Ala814Val Single submitter
- p.Arg1022Cys Single submitter
- p.Arg784Cys Single submitter
- p.Arg849= Single submitter
- p.Asn841Ser Single submitter
- p.Gln1307Arg Single submitter
- p.Gly465Ser Single submitter
- p.Gly858Ser Single submitter
- p.Leu1015Pro Single submitter
- p.Lys150Arg Single submitter
- p.Met697Thr Single submitter
- p.Met71Val Single submitter
- p.Phe737Leu Single submitter
- p.Pro689Leu Single submitter
- p.Ser1409= Single submitter
- p.Ser1483Asn Single submitter
- p.Ser809Pro Single submitter
- p.Thr66= Single submitter
- p.Tyr91= Single submitter
- c.4271+8G>A No assertion criteria CEP170B-related disorder
- c.4365+7G>A No assertion criteria CEP170B-related disorder
- p.Ala1177= No assertion criteria CEP170B-related disorder
- p.Ala127= No assertion criteria CEP170B-related disorder
- p.Ala302Val No assertion criteria CEP170B-related disorder
- p.Ala369Val No assertion criteria CEP170B-related disorder
- p.Ala505Thr No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
- p.Arg1048Cys No assertion criteria CEP170B-related disorder
- p.Arg1369= No assertion criteria CEP170B-related disorder
- p.Arg475= No assertion criteria CEP170B-related disorder
- p.Arg509= No assertion criteria CEP170B-related disorder
- p.Asp251= No assertion criteria CEP170B-related disorder
- p.Gly623= No assertion criteria CEP170B-related disorder
- p.Leu1553= No assertion criteria CEP170B-related disorder
- p.Leu848= No assertion criteria CEP170B-related disorder
- p.Phe409= No assertion criteria CEP170B-related disorder
- p.Phe490= No assertion criteria CEP170B-related disorder
- p.Pro1264= No assertion criteria CEP170B-related disorder
- p.Pro524= No assertion criteria CEP170B-related disorder
- p.Pro541= No assertion criteria CEP170B-related disorder
- p.Pro543= No assertion criteria CEP170B-related disorder
- p.Pro812= No assertion criteria CEP170B-related disorder
- p.Ser1135= No assertion criteria CEP170B-related disorder
- p.Ser868= No assertion criteria CEP170B-related disorder
- p.Thr312= No assertion criteria CEP170B-related disorder
- p.Thr439= No assertion criteria CEP170B-related disorder
- p.Thr910Asn No assertion criteria CEP170B-related disorder
- p.Tyr78= No assertion criteria CEP170B-related disorder
- p.Val962Ile No assertion criteria CEP170B-related disorder
Uncertain significance 349
Showing the top 300 by review status; the full set is in the sitemap.
- p.Lys368Glu Multiple submitters Abnormal heart morphology
- p.Pro148Leu Multiple submitters
- p.Ala1053Val Single submitter
- p.Ala1062Val Single submitter
- p.Ala1083Val Single submitter
- p.Ala1091Thr Single submitter
- p.Ala1123Thr Single submitter
- p.Ala1140Glu Single submitter
- p.Ala1205Val Single submitter
- p.Ala1237Gly Single submitter
- p.Ala1289Val Single submitter
- p.Ala1306Val Single submitter
- p.Ala1328Thr Single submitter
- p.Ala1382Thr Single submitter
- p.Ala1411Ser Single submitter
- p.Ala14Pro Single submitter
- p.Ala1515Thr Single submitter
- p.Ala1533Ser Single submitter
- p.Ala1549Val Single submitter
- p.Ala210Thr Single submitter
- p.Ala210Val Single submitter
- p.Ala454Ser Single submitter
- p.Ala515Ser Single submitter
- p.Ala515Thr Single submitter
- p.Ala515Val Single submitter
- p.Ala546Thr Single submitter
- p.Ala567Thr Single submitter
- p.Ala576Val Single submitter
- p.Ala815Thr Single submitter
- p.Ala826Thr Single submitter
- p.Ala896Pro Single submitter
- p.Ala897Thr Single submitter
- p.Ala922Val Single submitter
- p.Ala949Pro Single submitter
- p.Ala949Thr Single submitter
- p.Arg1004Cys Single submitter
- p.Arg100His Single submitter
- p.Arg1027Gln Single submitter
- p.Arg1027Leu Single submitter
- p.Arg1028Cys Single submitter
- p.Arg1032Lys Single submitter
- p.Arg1033Cys Single submitter
- p.Arg104Gln Single submitter
- p.Arg1075Trp Single submitter Abnormal heart morphology
- p.Arg1079Cys Single submitter
- p.Arg1080Gln Single submitter
- p.Arg1080Trp Single submitter
- p.Arg1092Gln Single submitter
- p.Arg1097Cys Single submitter
- p.Arg1097His Single submitter
- p.Arg1119His Single submitter
- p.Arg1125Gln Single submitter
- p.Arg1166Cys Single submitter
- p.Arg1166His Single submitter
- p.Arg1174Trp Single submitter
- p.Arg1176Gln Single submitter
- p.Arg1192Cys Single submitter
- p.Arg1198His Single submitter
- p.Arg1215Gln Single submitter
- p.Arg1215Trp Single submitter
- p.Arg1238Cys Single submitter
- p.Arg1238His Single submitter
- p.Arg1238Leu Single submitter
- p.Arg1243Gly Single submitter
- p.Arg1258Gln Single submitter
- p.Arg1258Gly Single submitter
- p.Arg1258Trp Single submitter
- p.Arg1260His Single submitter
- p.Arg1267Trp Single submitter
- p.Arg1293Ser Single submitter
- p.Arg1344Trp Single submitter
- p.Arg1350His Single submitter
- p.Arg1369Gln Single submitter
- p.Arg1388Gln Single submitter
- p.Arg1388Trp Single submitter
- p.Arg1392Gln Single submitter
- p.Arg1392Leu Single submitter
- p.Arg1505Cys Single submitter
- p.Arg1532Gln Single submitter
- p.Arg153Gln Single submitter
- p.Arg194Cys Single submitter
- p.Arg194His Single submitter
- p.Arg209His Single submitter
- p.Arg20Gln Single submitter
- p.Arg295Gln Single submitter
- p.Arg295Trp Single submitter
- p.Arg296Trp Single submitter
- p.Arg328Gln Single submitter
- p.Arg335Cys Single submitter
- p.Arg335His Single submitter
- p.Arg347Cys Single submitter
- p.Arg385Gln Single submitter
- p.Arg385Trp Single submitter
- p.Arg418Cys Single submitter
- p.Arg418His Single submitter
- p.Arg436Cys Single submitter
- p.Arg436His Single submitter
- p.Arg457Cys Single submitter
- p.Arg463Lys Single submitter
- p.Arg463Trp Single submitter
- p.Arg475Gln Single submitter
- p.Arg475Leu Single submitter
- p.Arg484Gln Single submitter
- p.Arg495Cys Single submitter
- p.Arg495His Single submitter
- p.Arg496Cys Single submitter
- p.Arg496His Single submitter
- p.Arg498His Single submitter
- p.Arg509Trp Single submitter
- p.Arg516Gln Single submitter
- p.Arg556Gln Single submitter
- p.Arg556Trp Single submitter
- p.Arg664His Single submitter
- p.Arg684Cys Single submitter
- p.Arg696His Single submitter
- p.Arg696Pro Single submitter
- p.Arg735Cys Single submitter
- p.Arg757Gln Single submitter
- p.Arg770Cys Single submitter
- p.Arg770His Single submitter
- p.Arg784His Single submitter
- p.Arg833Gln Single submitter
- p.Arg833Trp Single submitter
- p.Arg849Gln Single submitter
- p.Arg849Trp Single submitter
- p.Arg852Trp Single submitter
- p.Arg865Gln Single submitter
- p.Arg965Cys Single submitter
- p.Arg965His Single submitter
- p.Asn1385Lys Single submitter
- p.Asn145Ser Single submitter
- p.Asn1475Ser Single submitter
- p.Asn84Asp Single submitter
- p.Asp1059Asn Single submitter
- p.Asp1377Asn Single submitter
- p.Asp1398Gly Single submitter
- p.Asp1542Asn Single submitter
- p.Asp1548His Single submitter
- p.Asp176Asn Single submitter
- p.Asp251Val Single submitter
- p.Asp589Asn Single submitter
- p.Asp59Asn Single submitter
- p.Asp615Asn Single submitter
- p.Asp617Asn Single submitter
- p.Asp834Val Single submitter
- p.Asp857Val Single submitter
- p.Asp948Asn Single submitter
- p.Asp948Gly Single submitter
- p.Asp953Asn Single submitter
- p.Gln1095Leu Single submitter
- p.Gln200Lys Single submitter
- p.Gln215Arg Single submitter
- p.Gln238His Single submitter
- p.Gln401Lys Single submitter
- p.Gln774His Single submitter
- p.Gln866Arg Single submitter
- p.Gln893Arg Single submitter
- p.Gln982Arg Single submitter
- p.Glu1159Lys Single submitter
- p.Glu1380Gly Single submitter
- p.Glu1393Lys Single submitter
- p.Glu1421Lys Single submitter
- p.Glu241Lys Single submitter
- p.Glu306Lys Single submitter
- p.Glu355Lys Single submitter
- p.Glu378Lys Single submitter
- p.Glu411Lys Single submitter
- p.Glu520Lys Single submitter
- p.Glu573Lys Single submitter
- p.Glu599Lys Single submitter
- p.Glu633Asp Single submitter
- p.Glu707Gly Single submitter
- p.Glu716Gln Single submitter
- p.Glu760Lys Single submitter
- p.Glu867Asp Single submitter
- p.Gly1072Arg Single submitter
- p.Gly1077Asp Single submitter
- p.Gly1265Arg Single submitter
- p.Gly1316Val Single submitter
- p.Gly216Ser Single submitter
- p.Gly299Arg Single submitter
- p.Gly351Asp Single submitter
- p.Gly381Arg Single submitter
- p.Gly428Arg Single submitter
- p.Gly455Glu Single submitter
- p.Gly622Arg Single submitter
- p.Gly649Asp Single submitter
- p.Gly686Val Single submitter
- p.Gly687Arg Single submitter
- p.Gly714Ser Single submitter
- p.Gly782Asp Single submitter
- p.Gly782Val Single submitter
- p.Gly819Ala Single submitter
- p.Gly940Ser Single submitter
- p.Gly996Arg Single submitter
- p.His1418Asp Single submitter
- p.His327Gln Single submitter
- p.His336Gln Single submitter
- p.His885Asp Single submitter
- p.His885fs Single submitter CEP170B-related disorder
- p.His889Gln Single submitter
- p.Ile1169Leu Single submitter
- p.Ile1341Leu Single submitter
- p.Ile406Val Single submitter
- p.Ile799Met Single submitter
- p.Ile799Thr Single submitter
- p.Leu1015Phe Single submitter
- p.Leu1170Pro Single submitter
- p.Leu1383Met Single submitter
- p.Leu205Pro Single submitter
- p.Leu349Pro Single submitter
- p.Leu397Pro Single submitter
- p.Leu526Pro Single submitter
- p.Leu600Phe Single submitter
- p.Leu650Phe Single submitter
- p.Leu813Phe Single submitter
- p.Leu895Pro Single submitter
- p.Leu929Phe Single submitter
- p.Lys1386Arg Single submitter
- p.Lys1386Glu Single submitter
- p.Lys1503Thr Single submitter
- p.Lys353Arg Single submitter
- p.Lys811Arg Single submitter
- p.Met1211Thr Single submitter
- p.Met307Ile Single submitter
- p.Met71Ile Single submitter
- p.Met95Ile Single submitter
- p.Met985Thr Single submitter
- p.Pro1025Leu Single submitter
- p.Pro1118Leu Single submitter
- p.Pro1120Arg Single submitter
- p.Pro1186Leu Single submitter
- p.Pro1190Ala Single submitter
- p.Pro1233Leu Single submitter
- p.Pro1337Leu Single submitter
- p.Pro1362Leu Single submitter
- p.Pro1499Leu Single submitter
- p.Pro1541Leu Single submitter
- p.Pro182Arg Single submitter
- p.Pro192Leu Single submitter
- p.Pro192Ser Single submitter
- p.Pro211Thr Single submitter
- p.Pro214Thr Single submitter
- p.Pro234Leu Single submitter
- p.Pro240Ala Single submitter
- p.Pro243Leu Single submitter
- p.Pro248Leu Single submitter
- p.Pro297Ser Single submitter
- p.Pro343Leu Single submitter
- p.Pro365Ser Single submitter
- p.Pro365Thr Single submitter
- p.Pro426Leu Single submitter
- p.Pro430His Single submitter
- p.Pro430Ser Single submitter
- p.Pro451Leu Single submitter
- p.Pro513Leu Single submitter
- p.Pro524Leu Single submitter
- p.Pro541Leu Single submitter
- p.Pro544Gln Single submitter
- p.Pro545Ser Single submitter
- p.Pro547Leu Single submitter
- p.Pro643Leu Single submitter
- p.Pro651Leu Single submitter
- p.Pro653Leu Single submitter
- p.Pro712Thr Single submitter
- p.Pro715Ser Single submitter
- p.Pro726Leu Single submitter
- p.Pro744Arg Single submitter
- p.Pro761Thr Single submitter
- p.Pro777Ser Single submitter
- p.Pro789Arg Single submitter
- p.Pro831Ala Single submitter
- p.Pro861Ala Single submitter
- p.Pro873Ala Single submitter
- p.Pro890Gln Single submitter
- p.Pro890Leu Single submitter
- p.Pro943Leu Single submitter
- p.Pro946Leu Single submitter
- p.Pro989Leu Single submitter
- p.Pro995Leu Single submitter
- p.Ser1040Phe Single submitter
- p.Ser1057Arg Single submitter
- p.Ser1194Asn Single submitter
- p.Ser1199Gly Single submitter
- p.Ser1199Ile Single submitter
- p.Ser1239Leu Single submitter
- p.Ser1322Leu Single submitter
- p.Ser1355Asn Single submitter
- p.Ser1355Thr Single submitter
- p.Ser1365Leu Single submitter
- p.Ser218Leu Single submitter
- p.Ser265Asn Single submitter
- p.Ser268Cys Single submitter
- p.Ser268Phe Single submitter
- p.Ser371Leu Single submitter
- p.Ser459Leu Single submitter
- p.Ser466Leu Single submitter
- p.Ser478Thr Single submitter
- p.Ser480Leu Single submitter
- p.Ser480Pro Single submitter