CCDC141 — 505 ClinVar variants
All ClinVar germline CCDC141 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
11 Conflicting · 83 Benign · 1 Benign/Likely benign · 94 Likely benign · 316 Uncertain significance
Full CCDC141 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll CCDC141 variants
Conflicting classifications of pathogenicity 11
- p.Arg1176Gln Single submitter
- p.Arg836His Single submitter
- p.Asp767Asn Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- p.Gln409Ter Single submitter CCDC141-related disorder
- p.Glu1026Lys Single submitter
- p.Glu68Lys Single submitter
- p.Lys353Asn Single submitter
- p.Lys804Arg Single submitter
- p.Pro1064Leu Single submitter
- p.Pro707Ser Single submitter
- p.Val1387Ala Single submitter
Benign 83
- c.1266-154C>T Multiple submitters
- c.1407+9G>A Multiple submitters
- c.1719+127T>C Multiple submitters
- c.1900-105G>T Multiple submitters
- c.226-210C>T Multiple submitters
- c.2395-48T>C Multiple submitters
- c.2395-65T>A Multiple submitters
- c.2395-79T>A Multiple submitters
- c.2574+117A>G Multiple submitters
- c.3060+108T>A Multiple submitters
- c.3244+35A>T Multiple submitters
- c.3245-8C>T Multiple submitters
- c.3358-81G>C Multiple submitters
- c.3475-139G>A Multiple submitters
- c.418-70A>G Multiple submitters
- c.526+229G>T Multiple submitters
- c.527-31T>C Multiple submitters
- c.781-122G>A Multiple submitters
- c.781-185G>A Multiple submitters
- c.898-62G>T Multiple submitters
- c.*304C>T Multiple submitters
- c.*56C>T Multiple submitters
- p.Ala10Val Multiple submitters
- p.Ala141Val Multiple submitters
- p.Ala939= Multiple submitters
- p.Arg828Trp Multiple submitters
- p.Arg935Trp Multiple submitters
- p.Asn1170Ser Multiple submitters
- p.Glu382Asp Multiple submitters
- p.Lys354= Multiple submitters
- p.Pro1226= Multiple submitters
- p.Pro7Leu Multiple submitters
- p.Ser159= Multiple submitters
- p.Val1516= Multiple submitters
- p.Val261Leu Multiple submitters
- c.102+12A>G Single submitter
- c.102+220T>C Single submitter
- c.102+234dup Single submitter
- c.1093-112T>C Single submitter
- c.1266-300G>A Single submitter
- c.1407+270A>G Single submitter
- c.1407+309G>A Single submitter
- c.1408-173C>T Single submitter
- c.1408-219A>T Single submitter
- c.1528-153_1528-152insTTA Single submitter
- c.1528-166_1528-165dup Single submitter
- c.1528-268A>G Single submitter
- c.1719+239C>T Single submitter
- c.1719+255G>T Single submitter
- c.1719+296G>A Single submitter
- c.1720-126T>C Single submitter
- c.1720-156T>A Single submitter
- c.1720-157A>T Single submitter
- c.1720-158_1720-157insAATAAAAT Single submitter
- c.1720-165TAAA[3] Single submitter
- c.1720-224A>G Single submitter
- c.1720-259T>C Single submitter
- c.1900-158del Single submitter
- c.2079+286T>C Single submitter
- c.2205+142A>G Single submitter
- c.2205+148A>C Single submitter
- c.2205+208T>C Single submitter
- c.2205+9A>C Single submitter
- c.2206-112G>A Single submitter
- c.2394+250G>T Single submitter
- c.2394+277A>G Single submitter
- c.2574+228A>T Single submitter
- c.2575-209T>C Single submitter
- c.2724+226T>C Single submitter
- c.2725-148AG[6] Single submitter
- c.2725-230G>A Single submitter
- c.3357+101G>A Single submitter
- c.3357+167_3357+170del Single submitter
- c.3358-237T>C Single submitter
- c.3475-108_3475-107dup Single submitter
- c.418-249T>C Single submitter
- c.4326-217T>C Single submitter
- c.527-196C>T Single submitter
- c.780+118del Single submitter
- p.Arg222His Single submitter
- p.Arg468Trp Single submitter
- p.Gly1488Ser Single submitter
- p.Leu668= Single submitter
Benign/Likely benign 1
- p.Tyr556Cys Multiple submitters hypogonadotropic hypogonadism 7 with or without anosmia
Likely benign 94
- c.1719+7T>C Multiple submitters
- c.3474+17A>C Multiple submitters
- p.Ala901Thr Multiple submitters
- p.Gln507His Multiple submitters hypogonadotropic hypogonadism 7 with or without anosmia
- p.His770= Multiple submitters
- p.Leu872Val Multiple submitters
- p.Lys1037Asn Multiple submitters
- p.Lys569= Multiple submitters
- p.Val1457Ile Multiple submitters hypogonadotropic hypogonadism 7 with or without anosmia
- p.Val487= Multiple submitters
- p.Val529= Multiple submitters
- c.102+16C>T Single submitter
- c.1093-7T>G Single submitter
- c.1408-4A>G Single submitter
- c.1720-18C>G Single submitter
- c.2865+13T>C Single submitter
- c.3060+19G>T Single submitter
- c.3245-9C>G Single submitter
- c.780+16A>G Single submitter
- c.897+8A>T Single submitter
- p.Ala1275= Single submitter
- p.Ala72= Single submitter
- p.Ala756= Single submitter
- p.Ala865= Single submitter
- p.Arg1389Gln Single submitter
- p.Arg491Cys Single submitter
- p.Arg491Leu Single submitter
- p.Arg541= Single submitter
- p.Arg724Gln Single submitter
- p.Arg801His Single submitter
- p.Arg891= Single submitter
- p.Arg895Cys Single submitter
- p.Asn499Ser Single submitter
- p.Asn548Lys Single submitter
- p.Asn922= Single submitter
- p.Asp1212= Single submitter
- p.Asp915= Single submitter
- p.Asp978= Single submitter
- p.Cys1042= Single submitter
- p.Cys200Phe Single submitter
- p.Gln1066= Single submitter
- p.Gln1293= Single submitter
- p.Gln336= Single submitter
- p.Gln869Arg Single submitter
- p.Glu1461= Single submitter
- p.Glu156= Single submitter
- p.Glu588Lys Single submitter
- p.Glu832= Single submitter
- p.His289= Single submitter
- p.His772Gln Single submitter
- p.Ile1169Val Single submitter
- p.Leu1101= Single submitter
- p.Leu1114= Single submitter
- p.Leu1167Ter Single submitter
- p.Leu1177= Single submitter
- p.Leu1227= Single submitter
- p.Leu185= Single submitter
- p.Leu227= Single submitter
- p.Leu329= Single submitter
- p.Leu504= Single submitter
- p.Leu561= Single submitter
- p.Leu77= Single submitter
- p.Leu84= Single submitter
- p.Leu893= Single submitter
- p.Lys1473Glu Single submitter
- p.Lys933= Single submitter
- p.Phe1305= Single submitter
- p.Phe133= Single submitter
- p.Phe1369= Single submitter
- p.Phe140= Single submitter
- p.Pro1064= Single submitter
- p.Pro1128Leu Single submitter
- p.Pro1229= Single submitter
- p.Ser1210= Single submitter
- p.Ser1465= Single submitter
- p.Ser426= Single submitter
- p.Ser605= Single submitter
- p.Ser864= Single submitter
- p.Ser879= Single submitter
- p.Thr1513= Single submitter
- p.Thr192= Single submitter
- p.Thr892= Single submitter
- p.Tyr1025= Single submitter
- p.Tyr585= Single submitter
- p.Tyr647His Single submitter
- p.Tyr782= Single submitter
- p.Val1209= Single submitter
- p.Val1251= Single submitter
- p.Val1401Met Single submitter
- p.Val1420= Single submitter
- p.Val1509Ile Single submitter
- p.Val534Ile Single submitter
- p.Val823= Single submitter
- p.Ser864Phe No assertion criteria CCDC141-related disorder
Uncertain significance 316
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala1261Val Multiple submitters
- p.Ala88Thr Multiple submitters
- p.Arg1346Trp Multiple submitters
- p.Arg1463Ser Multiple submitters
- p.Arg1482Trp Multiple submitters
- p.Arg180Trp Multiple submitters hypogonadotropic hypogonadism
- p.Arg287Gln Multiple submitters
- p.Arg468Gln Multiple submitters
- p.Arg891Trp Multiple submitters CCDC141-related disorder
- p.Asn867Ser Multiple submitters
- p.Asp419Asn Multiple submitters
- p.Asp767Gly Multiple submitters
- p.Asp781Asn Multiple submitters
- p.Asp904Asn Multiple submitters
- p.Cys1042Tyr Multiple submitters
- p.Gln1293His Multiple submitters
- p.Glu444Lys Multiple submitters
- p.Glu783Lys Multiple submitters
- p.Glu876Lys Multiple submitters
- p.Glu905Lys Multiple submitters
- p.Gly1500Val Multiple submitters
- p.Gly433Arg Multiple submitters
- p.Gly465Ala Multiple submitters
- p.Gly848Arg Multiple submitters
- p.Ile803Thr Multiple submitters
- p.Leu1449Phe Multiple submitters
- p.Leu41Phe Multiple submitters
- p.Lys377Asn Multiple submitters
- p.Lys600Asn Multiple submitters
- p.Lys866Thr Multiple submitters
- p.Met431Ile Multiple submitters
- p.Ser55Cys Multiple submitters
- p.Ser605Leu Multiple submitters
- p.Ser846Pro Multiple submitters
- p.Trp38Cys Multiple submitters
- p.Val1191Ile Multiple submitters
- p.Val1498Met Multiple submitters
- p.Val790Leu Multiple submitters
- c.1093-2A>G Single submitter
- c.1528-10_1528-5del Single submitter
- c.1719+4T>C Single submitter
- c.1720-3T>C Single submitter
- c.2206-9A>G Single submitter
- c.2724+5G>A Single submitter
- c.2865+5del Single submitter
- c.780+6C>A Single submitter
- c.898-3C>G Single submitter
- p.Ala112Val Single submitter
- p.Ala141Pro Single submitter
- p.Ala1451Pro Single submitter
- p.Ala1476Thr Single submitter
- p.Ala20Thr Single submitter
- p.Ala20Val Single submitter
- p.Ala213Thr Single submitter
- p.Ala461Thr Single submitter
- p.Ala544Val Single submitter
- p.Ala634Val Single submitter
- p.Ala669Thr Single submitter
- p.Ala756Ser Single submitter
- p.Ala820Ter Single submitter
- p.Ala835Thr Single submitter
- p.Ala884Gly Single submitter
- p.Ala939Thr Single submitter
- p.Arg1176Ter Single submitter
- p.Arg123Ser Single submitter
- p.Arg1280Thr Single submitter
- p.Arg1289Lys Single submitter
- p.Arg1384Lys Single submitter
- p.Arg1389Gly Single submitter
- p.Arg1389Pro Single submitter
- p.Arg1413Gly Single submitter
- p.Arg222Cys Single submitter
- p.Arg230Ser Single submitter
- p.Arg438Gln Single submitter
- p.Arg491His Single submitter
- p.Arg667Trp Single submitter
- p.Arg778Ile Single submitter
- p.Arg801Cys Single submitter
- p.Arg801Ser Single submitter
- p.Arg80Trp Single submitter
- p.Arg828Gln Single submitter
- p.Arg857Trp Single submitter
- p.Arg883His Single submitter
- p.Arg891Gln Single submitter
- p.Arg891Leu Single submitter
- p.Arg935Gln Single submitter
- p.Asn1129Tyr Single submitter
- p.Asn1417His Single submitter
- p.Asn284Ser Single submitter
- p.Asn302His Single submitter
- p.Asn49Ser Single submitter
- p.Asn637Ser Single submitter
- p.Asn728Ser Single submitter
- p.Asn738Ser Single submitter
- p.Asn862Asp Single submitter
- p.Asn926Ile Single submitter
- p.Asn981Lys Single submitter
- p.Asp1199Asn Single submitter
- p.Asp1231Val Single submitter
- p.Asp1274Glu Single submitter
- p.Asp1274Val Single submitter
- p.Asp1352Val Single submitter
- p.Asp235Glu Single submitter
- p.Asp595Asn Single submitter
- p.Asp596Glu Single submitter
- p.Asp712Glu Single submitter
- p.Asp838Asn Single submitter
- p.Asp89His Single submitter
- p.Asp904Glu Single submitter
- p.Asp97Glu Single submitter
- p.Cys1042Ser Single submitter
- p.Cys217Arg Single submitter
- p.Cys252Ser Single submitter
- p.Cys434Ser Single submitter
- p.Gln1149Pro Single submitter
- p.Gln1179His Single submitter
- p.Gln1337His Single submitter
- p.Gln152Ter Single submitter
- p.Gln190Arg Single submitter
- p.Gln228His Single submitter
- p.Gln256Glu Single submitter
- p.Gln328Pro Single submitter
- p.Gln336fs Single submitter
- p.Gln338Glu Single submitter
- p.Gln611Ter Single submitter
- p.Gln656Arg Single submitter
- p.Gln690Leu Single submitter
- p.Gln791Arg Single submitter
- p.Gln869Leu Single submitter
- p.Glu1019Val Single submitter
- p.Glu107Lys Single submitter
- p.Glu1113Gly Single submitter
- p.Glu1174Gln Single submitter
- p.Glu1174Lys Single submitter
- p.Glu1263Gln Single submitter
- p.Glu1390Lys Single submitter
- p.Glu171Asp Single submitter
- p.Glu323Lys Single submitter
- p.Glu340Lys Single submitter
- p.Glu471Lys Single submitter
- p.Glu495_Lys496insSer Single submitter
- p.Glu575Lys Single submitter
- p.Glu662Lys Single submitter
- p.Glu78Lys Single submitter
- p.Glu908Lys Single submitter
- p.Gly1036Val Single submitter
- p.Gly1086Arg Single submitter
- p.Gly110Asp Single submitter
- p.Gly1340Ser Single submitter
- p.Gly1446Val Single submitter
- p.Gly1500Arg Single submitter
- p.Gly24Trp Single submitter
- p.Gly411Arg Single submitter
- p.Gly427Ser Single submitter
- p.Gly54Asp Single submitter
- p.Gly714Ala Single submitter
- p.Gly714Arg Single submitter
- p.His1313Arg Single submitter
- p.His1313Tyr Single submitter
- p.His1350Gln Single submitter
- p.His1350Tyr Single submitter
- p.His1363Arg Single submitter
- p.His393Arg Single submitter
- p.His513Asn Single submitter
- p.His601Leu Single submitter
- p.His65Gln Single submitter
- p.His696Gln Single submitter
- p.His821Leu Single submitter
- p.His826Tyr Single submitter
- p.His839Arg Single submitter
- p.His841Gln Single submitter
- p.His859Tyr Single submitter
- p.His993Gln Single submitter
- p.Ile1138fs Single submitter
- p.Ile1392Phe Single submitter
- p.Ile1468Phe Single submitter
- p.Ile251Arg Single submitter
- p.Ile269Arg Single submitter
- p.Ile474Val Single submitter
- p.Ile53Thr Single submitter
- p.Ile744Leu Single submitter
- p.Ile906Met Single submitter
- p.Leu1051Pro Single submitter
- p.Leu109Pro Single submitter
- p.Leu1107fs Single submitter
- p.Leu1166Ile Single submitter
- p.Leu1177Ile Single submitter
- p.Leu1201Val Single submitter
- p.Leu120Pro Single submitter
- p.Leu1219Phe Single submitter
- p.Leu1227Phe Single submitter
- p.Leu1342Phe Single submitter
- p.Leu1415Val Single submitter
- p.Leu1496Phe Single submitter
- p.Leu182Val Single submitter
- p.Leu277Arg Single submitter
- p.Leu313Arg Single submitter
- p.Leu389Phe Single submitter
- p.Leu414Phe Single submitter
- p.Leu543Val Single submitter
- p.Leu63Phe Single submitter hypogonadotropic hypogonadism 7 with or without anosmia
- p.Leu648Arg Single submitter
- p.Leu64del Single submitter
- p.Leu691Phe Single submitter
- p.Leu768Phe Single submitter
- p.Leu799= Single submitter
- p.Leu817Val Single submitter
- p.Leu847Ser Single submitter
- p.Leu973Ser Single submitter
- p.Leu983Pro Single submitter
- p.Lys1043Arg Single submitter
- p.Lys1049Glu Single submitter
- p.Lys1096Thr Single submitter
- p.Lys1098fs Single submitter
- p.Lys1357Glu Single submitter
- p.Lys143_Ile144insTer Single submitter
- p.Lys1460Glu Single submitter
- p.Lys164Ile Single submitter
- p.Lys239Glu Single submitter
- p.Lys37Ile Single submitter
- p.Lys456Gln Single submitter
- p.Lys500Thr Single submitter
- p.Lys61Glu Single submitter
- p.Lys62Thr Single submitter
- p.Lys650Asn Single submitter
- p.Lys73Arg Single submitter
- p.Lys788Thr Single submitter
- p.Lys885Asn Single submitter
- p.Lys929Thr Single submitter
- p.Lys96Arg Single submitter
- p.Lys988Asn Single submitter
- p.Lys992Ile Single submitter
- p.Met1200Val Single submitter
- p.Met576Leu Single submitter
- p.Met706Val Single submitter
- p.Met730Val Single submitter
- p.Met902Val Single submitter
- p.Met954Ile Single submitter
- p.Met954Thr Single submitter
- p.Met987Ile Single submitter
- p.Phe133Val Single submitter
- p.Phe627Leu Single submitter
- p.Phe792Leu Single submitter
- p.Phe925Leu Single submitter
- p.Pro1197Ser Single submitter
- p.Pro1237Thr Single submitter
- p.Pro1438Ser Single submitter hypogonadotropic hypogonadism
- p.Pro479Ala Single submitter
- p.Pro7Ser Single submitter
- p.Ser1103Ala Single submitter
- p.Ser1239Thr Single submitter
- p.Ser1256Asn Single submitter
- p.Ser1284Thr Single submitter
- p.Ser1316Arg Single submitter
- p.Ser1365Phe Single submitter
- p.Ser1370Leu Single submitter
- p.Ser1487Asn Single submitter
- p.Ser17Asn Single submitter
- p.Ser181Ala Single submitter
- p.Ser181Pro Single submitter
- p.Ser216Gly Single submitter
- p.Ser385Asn Single submitter
- p.Ser385Thr Single submitter
- p.Ser416Gly Single submitter
- p.Ser420Cys Single submitter
- p.Ser538Tyr Single submitter
- p.Ser677Gly Single submitter
- p.Ser762Ala Single submitter
- p.Ser853Leu Single submitter
- p.Ser896Arg Single submitter
- p.Ser8Thr Single submitter
- p.Ser99Arg Single submitter
- p.Thr1150Lys Single submitter
- p.Thr124Lys Single submitter
- p.Thr1378Ile Single submitter
- p.Thr1419Ile Single submitter
- p.Thr1462Ile Single submitter
- p.Thr1462Ser Single submitter
- p.Thr1499= Single submitter
- p.Thr1499Arg Single submitter
- p.Thr14Arg Single submitter
- p.Thr14Lys Single submitter CCDC141-related disorder
- p.Thr14Met Single submitter
- p.Thr1529Arg Single submitter
- p.Thr262Ala Single submitter
- p.Thr350Ala Single submitter
- p.Thr460Ala Single submitter
- p.Thr60Ile Single submitter
- p.Thr675Ser Single submitter
- p.Thr968Ala Single submitter
- p.Trp351Arg Single submitter
- p.Trp610Gly Single submitter
- p.Tyr102Cys Single submitter
- p.Tyr1479Ter Single submitter
- p.Tyr1518Cys Single submitter
- p.Tyr375Asn Single submitter
- p.Tyr466fs Single submitter
- p.Tyr927Cys Single submitter
- p.Val1033Ile Single submitter
- p.Val1035Asp Single submitter