CEL — 401 ClinVar variants

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

1 Pathogenic · 6 Likely pathogenic · 21 Conflicting · 22 Benign · 16 Benign/Likely benign · 119 Likely benign · 216 Uncertain significance

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

All CEL variants

Pathogenic 1

p.Val560fs No assertion criteria maturity-onset diabetes of the young type 8

Likely pathogenic 6

p.Val593fs Multiple submitters maturity-onset diabetes of the young type 8
p.Arg235Ter Single submitter maturity-onset diabetes of the young type 8
p.Asn206fs Single submitter
p.Trp391Ter Single submitter maturity-onset diabetes of the young type 8
p.Val626fs Single submitter maturity-onset diabetes of the young type 8
p.Val714fs Single submitter maturity-onset diabetes of the young type 8

Conflicting classifications of pathogenicity 21

p.Ala128Thr Single submitter maturity-onset diabetes of the young type 8
p.Ala25Thr Single submitter Inborn genetic diseases
p.Ala327Thr Single submitter Inborn genetic diseases
p.Ala601fs Single submitter maturity-onset diabetes of the young type 8
p.Ala612Gly Single submitter Inborn genetic diseases
p.Ala612Pro Single submitter Inborn genetic diseases
p.Ala656Pro Single submitter maturity-onset diabetes of the young
p.Ala689Pro Single submitter maturity-onset diabetes of the young type 8
p.Arg284Gly Single submitter maturity-onset diabetes of the young type 8
p.Gln113Ter Single submitter maturity-onset diabetes of the young type 8
p.Gln476Arg Single submitter maturity-onset diabetes of the young type 8
p.Gly134Ser Single submitter maturity-onset diabetes of the young type 8
p.Gly600Glu Single submitter
p.Ser654Ala Single submitter maturity-onset diabetes of the young type 8
p.Thr471fs Single submitter CEL-related disorder
p.Val120Ile Single submitter monogenic diabetes
p.Val156fs Single submitter maturity-onset diabetes of the young type 8
p.Val292Leu Single submitter maturity-onset diabetes of the young type 8
p.Val659fs Single submitter maturity-onset diabetes of the young type 8
p.Val692fs Single submitter maturity-onset diabetes of the young type 8
p.Val725fs Single submitter maturity-onset diabetes of the young type 8

Benign 22

c.1082+41A>G Multiple submitters
c.1287-48C>T Multiple submitters
c.1485-58C>T Multiple submitters
c.67-121A>C Multiple submitters
c.896-58G>A Multiple submitters
p.Asn322Ser Multiple submitters
p.Gly688= Multiple submitters
p.Leu118Arg Multiple submitters monogenic diabetes
p.Leu144= Multiple submitters maturity-onset diabetes of the young type 8
p.Pro570= Multiple submitters
p.Thr388= Multiple submitters
p.Thr409Ile Multiple submitters
p.Thr553= Multiple submitters maturity-onset diabetes of the young type 8
p.Ala601Thr Single submitter
p.Arg532Trp Single submitter
p.Glu710Gln Single submitter
p.Gly379= Single submitter
p.Pro594Thr Single submitter
p.Pro602Ala Single submitter
p.Pro616Thr Single submitter
p.Thr704_Val725del Single submitter
p.Val411Ile Single submitter

Benign/Likely benign 16

c.1485-8C>T Multiple submitters maturity-onset diabetes of the young type 8
c.778-20G>T Multiple submitters maturity-onset diabetes of the young type 8
p.Ala18= Multiple submitters
p.Ala21Ser Multiple submitters
p.Ala580Pro Multiple submitters
p.Ala712Thr Multiple submitters
p.Arg3Cys Multiple submitters
p.Arg540His Multiple submitters monogenic diabetes
p.Asp501His Multiple submitters
p.Glu578Gly Multiple submitters
p.Gly134= Multiple submitters maturity-onset diabetes of the young type 8
p.Ile485Thr Multiple submitters monogenic diabetes
p.Ser566= Multiple submitters
p.Ser610Ala Multiple submitters
p.Thr579Ala Multiple submitters
p.Pro470= No assertion criteria

Likely benign 119

c.1083-33G>C Multiple submitters
c.1287-89A>G Multiple submitters
c.1485-53C>G Multiple submitters
c.217+35G>A Multiple submitters
c.341-48C>G Multiple submitters
c.539-75T>C Multiple submitters
c.67-46C>T Multiple submitters
c.670-4G>A Multiple submitters maturity-onset diabetes of the young type 8
c.777+7G>A Multiple submitters maturity-onset diabetes of the young type 8
p.Ala601Pro Multiple submitters
p.Ala676Ser Multiple submitters
p.Arg185Gln Multiple submitters maturity-onset diabetes of the young type 8
p.Gly44= Multiple submitters maturity-onset diabetes of the young type 8
p.Gly564= Multiple submitters maturity-onset diabetes of the young type 8
p.Gly611= Multiple submitters maturity-onset diabetes of the young type 8
p.Gly655= Multiple submitters
p.Gly666= Multiple submitters
p.Phe139= Multiple submitters
p.Pro445= Multiple submitters maturity-onset diabetes of the young type 8
p.Pro559= Multiple submitters maturity-onset diabetes of the young type 8
p.Pro572= Multiple submitters maturity-onset diabetes of the young type 8
p.Pro678Ala Multiple submitters
p.Pro702= Multiple submitters
p.Pro715= Multiple submitters
p.Pro726= Multiple submitters Inborn genetic diseases
p.Thr563= Multiple submitters maturity-onset diabetes of the young type 8
p.Val165= Multiple submitters
p.Val33= Multiple submitters maturity-onset diabetes of the young type 8
c.1484+40G>A Single submitter
c.1484+7C>T Single submitter maturity-onset diabetes of the young type 8
c.67-26del Single submitter
c.67-306C>T Single submitter
c.670-20G>A Single submitter maturity-onset diabetes of the young type 8
c.895+140G>A Single submitter
c.895+188dup Single submitter
c.895+224A>G Single submitter
c.895+276C>A Single submitter
p.Ala271= Single submitter
p.Ala289Thr Single submitter Inborn genetic diseases
p.Ala483= Single submitter
p.Ala483Val Single submitter Inborn genetic diseases
p.Ala548Thr Single submitter
p.Ala590= Single submitter
p.Ala601Asp Single submitter Inborn genetic diseases
p.Ala612Thr Single submitter Inborn genetic diseases
p.Ala656= Single submitter
p.Ala676_Asp697del Single submitter
p.Ala712Pro Single submitter
p.Ala722= Single submitter
p.Ala733= Single submitter
p.Arg111= Single submitter
p.Arg234Trp Single submitter
p.Arg273= Single submitter
p.Arg474Trp Single submitter
p.Asp697Gly Single submitter Inborn genetic diseases
p.Glu710Gly Single submitter
p.Gly575= Single submitter
p.Gly600= Single submitter
p.Gly611Glu Single submitter Inborn genetic diseases
p.Gly633= Single submitter
p.Gly677= Single submitter
p.Gly688Ser Single submitter Inborn genetic diseases
p.Gly696= Single submitter
p.Gly699= Single submitter
p.Gly699_Ser709del Single submitter
p.Gly721= Single submitter
p.Gly721Glu Single submitter Inborn genetic diseases
p.Gly729_Thr739del Single submitter maturity-onset diabetes of the young type 8
p.Leu11Phe Single submitter Inborn genetic diseases
p.Leu210= Single submitter
p.Met530Val Single submitter
p.Pro583= Single submitter
p.Pro591Ala Single submitter Inborn genetic diseases
p.Pro592= Single submitter
p.Pro594= Single submitter
p.Pro602= Single submitter
p.Pro603= Single submitter
p.Pro605= Single submitter
p.Pro613= Single submitter
p.Pro613Ala Single submitter Inborn genetic diseases
p.Pro614= Single submitter
p.Pro616= Single submitter
p.Pro624= Single submitter
p.Pro627= Single submitter
p.Pro635= Single submitter
p.Pro636= Single submitter
p.Pro638= Single submitter
p.Pro646= Single submitter
p.Pro649= Single submitter
p.Pro660= Single submitter
p.Pro671= Single submitter
p.Pro678fs Single submitter
p.Pro682= Single submitter
p.Pro691= Single submitter
p.Pro701= Single submitter
p.Pro715Thr Single submitter
p.Pro724= Single submitter
p.Pro735= Single submitter
p.Pro737= Single submitter
p.Ser588= Single submitter
p.Ser610= Single submitter
p.Ser643= Single submitter
p.Ser654= Single submitter
p.Ser687Ala Single submitter
p.Ser709= Single submitter
p.Ser720= Single submitter
p.Ser731= Single submitter
p.Thr569= Single submitter
p.Thr569Ala Single submitter
p.Thr711= Single submitter
p.Thr711_Glu732del Single submitter
p.Thr711Ala Single submitter
p.Thr717= Single submitter
p.Thr739_Asp740insGlyAspSerGluAlaAlaProValProProThr Single submitter maturity-onset diabetes of the young type 8
p.Tyr324= Single submitter
p.Val292Met Single submitter Inborn genetic diseases
p.Val411= Single submitter
p.Val446Ile Single submitter Inborn genetic diseases
p.Gly241= No assertion criteria

Uncertain significance 216

c.67-3C>A Multiple submitters maturity-onset diabetes of the young type 8
c.895+2dup Multiple submitters maturity-onset diabetes of the young type 8
p.Ala128Val Multiple submitters Inborn genetic diseases
p.Ala295Ser Multiple submitters Inborn genetic diseases
p.Ala548Glu Multiple submitters Inborn genetic diseases
p.Ala722Val Multiple submitters maturity-onset diabetes of the young type 8
p.Arg116Gln Multiple submitters
p.Arg185Trp Multiple submitters Inborn genetic diseases
p.Arg443Trp Multiple submitters Inborn genetic diseases
p.Asn37Ser Multiple submitters maturity-onset diabetes of the young type 8
p.Asp454Asn Multiple submitters maturity-onset diabetes of the young type 8
p.Gln239His Multiple submitters
p.Gln460Arg Multiple submitters Inborn genetic diseases
p.Gly147Ser Multiple submitters Inborn genetic diseases
p.Gly644= Multiple submitters
p.His68Leu Multiple submitters Inborn genetic diseases
p.Ile89Val Multiple submitters Inborn genetic diseases
p.Pro293Leu Multiple submitters maturity-onset diabetes of the young type 8
p.Ser219Thr Multiple submitters Inborn genetic diseases
p.Ser698Ala Multiple submitters maturity-onset diabetes of the young type 8
p.Thr287Met Multiple submitters monogenic diabetes
p.Thr471Met Multiple submitters maturity-onset diabetes of the young type 8
p.Thr479Ile Multiple submitters
p.Thr558_Pro562delinsSerSerMetProSer Multiple submitters maturity-onset diabetes of the young type 8
p.Trp542Arg Multiple submitters Inborn genetic diseases
p.Val158Met Multiple submitters maturity-onset diabetes of the young type 8
p.Val451Leu Multiple submitters Inborn genetic diseases
c.217+34C>T Single submitter maturity-onset diabetes of the young type 8
c.341-2A>G Single submitter maturity-onset diabetes of the young type 8
c.341-83C>T Single submitter maturity-onset diabetes of the young type 8
c.538+5G>A Single submitter maturity-onset diabetes of the young type 8
c.538+5G>C Single submitter maturity-onset diabetes of the young type 8
c.669+6G>A Single submitter maturity-onset diabetes of the young type 8
c.670-1G>C Single submitter maturity-onset diabetes of the young type 8
c.-13G>A Single submitter
p.557ATPVPPTGDSE[1] Single submitter maturity-onset diabetes of the young type 8
p.Ala151Thr Single submitter Inborn genetic diseases
p.Ala176Thr Single submitter maturity-onset diabetes of the young type 8
p.Ala21Thr Single submitter Inborn genetic diseases
p.Ala243Val Single submitter maturity-onset diabetes of the young type 8
p.Ala257Pro Single submitter Inborn genetic diseases
p.Ala261Ser Single submitter Inborn genetic diseases
p.Ala272Thr Single submitter maturity-onset diabetes of the young type 8
p.Ala289Val Single submitter maturity-onset diabetes of the young type 8
p.Ala318Thr Single submitter Inborn genetic diseases
p.Ala318Val Single submitter Inborn genetic diseases
p.Ala325Thr Single submitter Inborn genetic diseases
p.Ala380Thr Single submitter Inborn genetic diseases
p.Ala428Val Single submitter Inborn genetic diseases
p.Ala456Gly Single submitter Inborn genetic diseases
p.Ala456Thr Single submitter Inborn genetic diseases
p.Ala468Thr Single submitter maturity-onset diabetes of the young type 8
p.Ala483Thr Single submitter maturity-onset diabetes of the young type 8
p.Ala486Thr Single submitter maturity-onset diabetes of the young type 8
p.Ala56Thr Single submitter maturity-onset diabetes of the young type 8
p.Ala590Asp Single submitter Inborn genetic diseases
p.Ala601Gly Single submitter Inborn genetic diseases
p.Ala623Pro Single submitter Inborn genetic diseases
p.Ala722Thr Single submitter Inborn genetic diseases
p.Ala733_Lys743del Single submitter maturity-onset diabetes of the young type 8
p.Ala734Pro Single submitter Inborn genetic diseases
p.Arg153Cys Single submitter maturity-onset diabetes of the young type 8
p.Arg164Cys Single submitter maturity-onset diabetes of the young type 8
p.Arg284Pro Single submitter maturity-onset diabetes of the young type 8
p.Arg284Ter Single submitter maturity-onset diabetes of the young type 8
p.Arg443Gln Single submitter
p.Arg474Gln Single submitter maturity-onset diabetes of the young type 8
p.Arg752Thr Single submitter Inborn genetic diseases
p.Asn155Lys Single submitter Inborn genetic diseases
p.Asn162Ser Single submitter maturity-onset diabetes of the young type 8
p.Asn177Ser Single submitter Inborn genetic diseases
p.Asn229= Single submitter
p.Asn322His Single submitter Inborn genetic diseases
p.Asn37His Single submitter maturity-onset diabetes of the young type 8
p.Asn490His Single submitter maturity-onset diabetes of the young type 8
p.Asn498Thr Single submitter
p.Asp146Glu Single submitter maturity-onset diabetes of the young type 8
p.Asp204fs Single submitter maturity-onset diabetes of the young type 8
p.Asp319Asn Single submitter Inborn genetic diseases
p.Asp319Glu Single submitter Inborn genetic diseases
p.Asp329Gly Single submitter Inborn genetic diseases
p.Asp363His Single submitter Inborn genetic diseases
p.Asp454His Single submitter
p.Asp576Gly Single submitter maturity-onset diabetes of the young type 8
p.Asp587Asn Single submitter maturity-onset diabetes of the young type 8
p.Asp708Val Single submitter maturity-onset diabetes of the young type 8
p.Asp719fs Single submitter maturity-onset diabetes of the young type 8
p.Asp97Tyr Single submitter maturity-onset diabetes of the young type 8
p.Asp99Val Single submitter maturity-onset diabetes of the young type 8
p.Gln276= Single submitter maturity-onset diabetes of the young type 8
p.Gln476Pro Single submitter maturity-onset diabetes of the young type 8
p.Gln555Glu Single submitter Inborn genetic diseases
p.Glu148Lys Single submitter maturity-onset diabetes of the young type 8
p.Glu298Ala Single submitter Inborn genetic diseases
p.Glu298Gly Single submitter maturity-onset diabetes of the young type 8
p.Glu29Lys Single submitter Inborn genetic diseases
p.Glu34Gln Single submitter
p.Glu389Lys Single submitter
p.Glu567_Ala580delinsGlyAlaPro Single submitter maturity-onset diabetes of the young type 8
p.Glu567Lys Single submitter Inborn genetic diseases
p.Glu578Asp Single submitter Inborn genetic diseases
p.Glu710Asp Single submitter Inborn genetic diseases
p.Glu710Lys Single submitter Inborn genetic diseases
p.Gly132Glu Single submitter Inborn genetic diseases
p.Gly166fs Single submitter maturity-onset diabetes of the young type 8
p.Gly166Ser Single submitter Inborn genetic diseases
p.Gly241Ser Single submitter maturity-onset diabetes of the young type 8
p.Gly265Asp Single submitter Inborn genetic diseases
p.Gly575Arg Single submitter maturity-onset diabetes of the young type 8
p.Gly600Arg Single submitter Inborn genetic diseases
p.Gly611Arg Single submitter Inborn genetic diseases
p.Gly674Asp Single submitter Inborn genetic diseases
p.Gly674Val Single submitter Inborn genetic diseases
p.Gly677Arg Single submitter maturity-onset diabetes of the young type 8
p.Gly677Trp Single submitter maturity-onset diabetes of the young type 8
p.Gly688_Ala689insProProProValProProThrGlyAspSerGly Single submitter maturity-onset diabetes of the young type 8
p.Gly70Val Single submitter maturity-onset diabetes of the young type 8
p.Gly718Arg Single submitter Inborn genetic diseases
p.Gly721_Ser731del Single submitter maturity-onset diabetes of the young type 8
p.Gly721_Ser742del Single submitter maturity-onset diabetes of the young type 8
p.His135Gln Single submitter
p.Ile105Val Single submitter maturity-onset diabetes of the young type 8
p.Ile157Met Single submitter Inborn genetic diseases
p.Ile191Asn Single submitter
p.Ile237Val Single submitter monogenic diabetes
p.Ile316Met Single submitter Inborn genetic diseases
p.Ile333Thr Single submitter
p.Ile347Val Single submitter Inborn genetic diseases
p.Leu101Pro Single submitter maturity-onset diabetes of the young type 8
p.Leu118_Val120delinsArgProIle Single submitter maturity-onset diabetes of the young type 8
p.Leu4Pro Single submitter
p.Leu544Val Single submitter
p.Lys358Gln Single submitter Inborn genetic diseases
p.Lys366Arg Single submitter Inborn genetic diseases
p.Lys432Asn Single submitter maturity-onset diabetes of the young type 8
p.Lys432Glu Single submitter maturity-onset diabetes of the young type 8
p.Lys449Asn Single submitter maturity-onset diabetes of the young type 8
p.Lys60Glu Single submitter
p.Met747Ile Single submitter
p.Phe161Leu Single submitter maturity-onset diabetes of the young type 8
p.Phe467fs Single submitter maturity-onset diabetes of the young type 8
p.Phe80Leu Single submitter
p.Phe80Ser Single submitter
p.Pro119Ser Single submitter Inborn genetic diseases
p.Pro119Thr Single submitter
p.Pro167Leu Single submitter maturity-onset diabetes of the young type 8
p.Pro179= Single submitter maturity-onset diabetes of the young type 8
p.Pro253Leu Single submitter maturity-onset diabetes of the young type 8
p.Pro283Ala Single submitter maturity-onset diabetes of the young type 8
p.Pro320Leu Single submitter maturity-onset diabetes of the young type 8
p.Pro445Ala Single submitter
p.Pro559Leu Single submitter maturity-onset diabetes of the young type 8
p.Pro561Leu Single submitter
p.Pro581Arg Single submitter Inborn genetic diseases
p.Pro581His Single submitter Inborn genetic diseases
p.Pro583Thr Single submitter Inborn genetic diseases
p.Pro591Ser Single submitter maturity-onset diabetes of the young type 8
p.Pro603His Single submitter Inborn genetic diseases
p.Pro603Thr Single submitter Inborn genetic diseases
p.Pro614Ala Single submitter Inborn genetic diseases
p.Pro617His Single submitter Inborn genetic diseases
p.Pro647Ala Single submitter Inborn genetic diseases
p.Pro647His Single submitter Inborn genetic diseases
p.Pro649Leu Single submitter Inborn genetic diseases
p.Pro679Ser Single submitter Inborn genetic diseases
p.Pro680Thr Single submitter Inborn genetic diseases
p.Pro694Ser Single submitter maturity-onset diabetes of the young type 8
p.Pro713Ala Single submitter maturity-onset diabetes of the young type 8
p.Ser226= Single submitter maturity-onset diabetes of the young type 8
p.Ser240Gly Single submitter maturity-onset diabetes of the young type 8
p.Ser566Pro Single submitter Inborn genetic diseases
p.Ser599Ala Single submitter Inborn genetic diseases
p.Ser621Ala Single submitter Inborn genetic diseases
p.Ser665Ala Single submitter Inborn genetic diseases
p.Ser720Phe Single submitter maturity-onset diabetes of the young type 8
p.Thr152Ile Single submitter
p.Thr209Met Single submitter
p.Thr360Arg Single submitter
p.Thr360Met Single submitter
p.Thr382Met Single submitter Inborn genetic diseases
p.Thr469Pro Single submitter Inborn genetic diseases
p.Thr471= Single submitter
p.Thr471Lys Single submitter
p.Thr471Ser Single submitter Inborn genetic diseases
p.Thr513= Single submitter maturity-onset diabetes of the young type 8
p.Thr513Ala Single submitter maturity-onset diabetes of the young type 8
p.Thr513Met Single submitter maturity-onset diabetes of the young type 8
p.Thr522Ala Single submitter maturity-onset diabetes of the young type 8
p.Thr553Ile Single submitter Inborn genetic diseases
p.Thr569_Thr579del Single submitter maturity-onset diabetes of the young type 8
p.Thr569Ile Single submitter Inborn genetic diseases
p.Thr607Met Single submitter Inborn genetic diseases
p.Thr695fs Single submitter maturity-onset diabetes of the young type 8
p.Thr88Ala Single submitter maturity-onset diabetes of the young type 8
p.Trp247Cys Single submitter maturity-onset diabetes of the young type 8
p.Tyr125Cys Single submitter maturity-onset diabetes of the young type 8
p.Tyr143His Single submitter maturity-onset diabetes of the young type 8
p.Tyr290Cys Single submitter maturity-onset diabetes of the young type 8
p.Tyr447Ter Single submitter maturity-onset diabetes of the young type 8
p.Val114Ile Single submitter
p.Val242Met Single submitter maturity-onset diabetes of the young type 8
p.Val260Glu Single submitter maturity-onset diabetes of the young type 8
p.Val415Gly Single submitter Inborn genetic diseases
p.Val451= Single submitter maturity-onset diabetes of the young type 8
p.Val504Met Single submitter maturity-onset diabetes of the young type 8
p.Val582Ala Single submitter Inborn genetic diseases
p.Val582Met Single submitter Inborn genetic diseases
p.Val593Met Single submitter Inborn genetic diseases
p.Val604Met Single submitter Inborn genetic diseases
p.Val637fs Single submitter maturity-onset diabetes of the young type 8
p.Val670fs Single submitter maturity-onset diabetes of the young type 8
p.Val681fs Single submitter maturity-onset diabetes of the young type 8
p.Val681Met Single submitter Inborn genetic diseases
p.Ile352Val No assertion criteria CEL-related disorder
p.Ser93Arg No assertion criteria maturity-onset diabetes of the young type 8
p.Val405del No assertion criteria