COBL — 237 ClinVar variants
All ClinVar germline COBL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 201 flagged for review →
7 Benign · 21 Likely benign · 209 Uncertain significance
Full COBL gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 201
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 lean, ClinVar uncertain 184
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 184
- COBL p.Ala1130Ser Uncertain significance Single submitter
- COBL p.Ala1170Pro Uncertain significance Single submitter
- COBL p.Ala1184Thr Uncertain significance Single submitter
- COBL p.Ala1205Thr Uncertain significance Single submitter
- COBL p.Ala1235Thr Uncertain significance Single submitter
- COBL p.Ala1237Thr Uncertain significance Single submitter
- COBL p.Ala1251Pro Uncertain significance Single submitter
- COBL p.Ala44Thr Uncertain significance Single submitter
- COBL p.Ala486Gly Uncertain significance Single submitter
- COBL p.Ala580Val Uncertain significance Single submitter
- COBL p.Ala599Val Uncertain significance Single submitter
- COBL p.Ala682Pro Uncertain significance Single submitter
- COBL p.Ala759Gly Uncertain significance Single submitter
- COBL p.Ala84Val Uncertain significance Single submitter
- COBL p.Ala873Val Uncertain significance Single submitter
- COBL p.Arg108Gln Uncertain significance Single submitter
- COBL p.Arg1101Ile Uncertain significance Single submitter
- COBL p.Arg1125Gly Uncertain significance Single submitter
- COBL p.Arg1127His Uncertain significance Single submitter
- COBL p.Arg1150Gln Uncertain significance Single submitter
- COBL p.Arg156His Uncertain significance Single submitter
- COBL p.Arg163Gln Uncertain significance Single submitter
- COBL p.Arg170Cys Uncertain significance Single submitter
- COBL p.Arg275Cys Uncertain significance Single submitter
- COBL p.Arg300Cys Uncertain significance Single submitter
- COBL p.Arg353Cys Uncertain significance Single submitter
- COBL p.Arg490Cys Uncertain significance Single submitter
- COBL p.Arg53Pro Uncertain significance Single submitter
- COBL p.Arg594Lys Uncertain significance Single submitter
- COBL p.Arg691Gln Uncertain significance Single submitter
- COBL p.Arg700Lys Uncertain significance Single submitter
- COBL p.Arg748Lys Uncertain significance Single submitter
- COBL p.Arg806Thr Uncertain significance Single submitter
- COBL p.Arg845Ser Uncertain significance Single submitter
- COBL p.Arg875Cys Uncertain significance Single submitter
- COBL p.Arg875Leu Uncertain significance Single submitter
- COBL p.Arg986Cys Uncertain significance Single submitter
- COBL p.Arg986Leu Uncertain significance Single submitter
- COBL p.Asn201Ser Uncertain significance Single submitter
- COBL p.Asn226Asp Uncertain significance Single submitter
- COBL p.Asn238Ser Uncertain significance Single submitter
- COBL p.Asn559Ser Uncertain significance Single submitter
- COBL p.Asn644Ile Uncertain significance Single submitter
- COBL p.Asn672Asp Uncertain significance Single submitter
- COBL p.Asn774Ser Uncertain significance Single submitter
- COBL p.Asp1017His Uncertain significance Single submitter
- COBL p.Asp1106His Uncertain significance Single submitter
- COBL p.Asp1182Asn Uncertain significance Single submitter
- COBL p.Asp1236Asn Uncertain significance Single submitter
- COBL p.Asp379Asn Uncertain significance Single submitter
- COBL p.Asp497Gly Uncertain significance Single submitter
- COBL p.Asp606Gly Uncertain significance Single submitter
- COBL p.Asp641Asn Uncertain significance Single submitter
- COBL p.Asp656Glu Uncertain significance Single submitter
- COBL p.Asp678Asn Uncertain significance Single submitter
- COBL p.Asp721His Uncertain significance Single submitter
- COBL p.Cys1032Tyr Uncertain significance Single submitter
- COBL p.Cys376Gly Uncertain significance Single submitter
- COBL p.Cys993Tyr Uncertain significance Single submitter
- COBL p.Gln1030His Uncertain significance Single submitter
- COBL p.Gln1100Arg Uncertain significance Single submitter
- COBL p.Gln49Arg Uncertain significance Single submitter
- COBL p.Gln588His Uncertain significance Single submitter
- COBL p.Gln866Arg Uncertain significance Single submitter
- COBL p.Glu1005Ala Uncertain significance Single submitter
- COBL p.Glu1035Lys Uncertain significance Single submitter
- COBL p.Glu1067Gln Uncertain significance Single submitter
- COBL p.Glu1145Lys Uncertain significance Single submitter
- COBL p.Glu1149Gln Uncertain significance Single submitter
- COBL p.Glu1149Lys Uncertain significance Single submitter
- COBL p.Glu1175Gln Uncertain significance Single submitter
- COBL p.Glu355Asp Uncertain significance Single submitter
- COBL p.Glu570Asp Uncertain significance Single submitter
- COBL p.Glu664Gln Uncertain significance Single submitter
- COBL p.Glu735Lys Uncertain significance Single submitter
- COBL p.Glu777Val Uncertain significance Single submitter
- COBL p.Glu942Gly Uncertain significance Single submitter
- COBL p.Gly1134Arg Uncertain significance Single submitter
- COBL p.Gly262Ser Uncertain significance Single submitter
- COBL p.Gly280Ser Uncertain significance Single submitter
- COBL p.Gly280Val Uncertain significance Single submitter
- COBL p.Gly46Arg Uncertain significance Single submitter
- COBL p.Gly520Arg Uncertain significance Single submitter
- COBL p.Gly610Arg Uncertain significance Single submitter
- COBL p.Gly653Asp Uncertain significance Single submitter
- COBL p.Gly657Arg Uncertain significance Single submitter
- COBL p.Gly704Ser Uncertain significance Single submitter
- COBL p.Gly746Ser Uncertain significance Single submitter
- COBL p.Gly830Val Uncertain significance Single submitter
- COBL p.Gly895Val Uncertain significance Single submitter
- COBL p.Gly952Val Uncertain significance Single submitter
- COBL p.His1025Pro Uncertain significance Single submitter
- COBL p.His41Asp Uncertain significance Single submitter
- COBL p.His41Tyr Uncertain significance Single submitter
- COBL p.His586Tyr Uncertain significance Single submitter
- COBL p.His590Leu Uncertain significance Single submitter
- COBL p.Ile124Met Uncertain significance Single submitter
- COBL p.Ile416Val Uncertain significance Single submitter
- COBL p.Ile711Thr Uncertain significance Single submitter
- COBL p.Ile764Thr Uncertain significance Single submitter
- COBL p.Ile814Val Uncertain significance Single submitter
- COBL p.Leu1200Phe Uncertain significance Single submitter
- COBL p.Leu1217Arg Uncertain significance Single submitter
- COBL p.Leu134Arg Uncertain significance Single submitter
- COBL p.Leu493Phe Uncertain significance Single submitter
- COBL p.Leu496Phe Uncertain significance Single submitter
- COBL p.Leu79Phe Uncertain significance Single submitter
- COBL p.Leu903Val Uncertain significance Single submitter
- COBL p.Leu92Pro Uncertain significance Single submitter
- COBL p.Lys1069Glu Uncertain significance Single submitter
- COBL p.Lys253Arg Uncertain significance Single submitter
- COBL p.Lys294Glu Uncertain significance Single submitter
- COBL p.Lys357Glu Uncertain significance Single submitter
- COBL p.Lys646Asn Uncertain significance Single submitter
- COBL p.Lys926Glu Uncertain significance Single submitter
- COBL p.Met297Val Uncertain significance Single submitter
- COBL p.Met410Ile Uncertain significance Single submitter
- COBL p.Met63Leu Uncertain significance Single submitter
- COBL p.Met839Ile Uncertain significance Single submitter
- COBL p.Pro1022Ser Uncertain significance Single submitter
- COBL p.Pro1023Ala Uncertain significance Single submitter
- COBL p.Pro1053Arg Uncertain significance Single submitter
- COBL p.Pro115Arg Uncertain significance Single submitter
- COBL p.Pro1203Leu Uncertain significance Single submitter
- COBL p.Pro1208Ser Uncertain significance Single submitter
- COBL p.Pro147Leu Uncertain significance Single submitter
- COBL p.Pro148Leu Uncertain significance Single submitter
- COBL p.Pro148Ser Uncertain significance Single submitter
- COBL p.Pro305Thr Uncertain significance Single submitter
- COBL p.Pro343Ser Uncertain significance Single submitter
- COBL p.Pro4Arg Uncertain significance Single submitter
- COBL p.Pro685Arg Uncertain significance Single submitter
- COBL p.Pro792Leu Uncertain significance Single submitter
- COBL p.Pro811Leu Uncertain significance Single submitter
- COBL p.Ser1040Ala Uncertain significance Single submitter
- COBL p.Ser1071Gly Uncertain significance Single submitter
- COBL p.Ser1087Thr Uncertain significance Single submitter
- COBL p.Ser1161Arg Uncertain significance Single submitter
- COBL p.Ser191Arg Uncertain significance Single submitter
- COBL p.Ser260Asn Uncertain significance Single submitter
- COBL p.Ser271Pro Uncertain significance Single submitter
- COBL p.Ser274Leu Uncertain significance Single submitter
- COBL p.Ser295Leu Uncertain significance Single submitter
- COBL p.Ser317Leu Uncertain significance Single submitter
- COBL p.Ser363Gly Uncertain significance Single submitter
- COBL p.Ser425Gly Uncertain significance Single submitter
- COBL p.Ser455Ile Uncertain significance Single submitter
- COBL p.Ser466Leu Uncertain significance Single submitter
- COBL p.Ser512Thr Uncertain significance Single submitter
- COBL p.Ser517Ala Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- COBL p.Arg1127Cys Uncertain significance Single submitter
- COBL p.Arg1127Leu Uncertain significance Single submitter
- COBL p.Arg1253Ser Uncertain significance Single submitter
- COBL p.Arg156Cys Uncertain significance Single submitter
- COBL p.Arg334Gln Uncertain significance Single submitter
- COBL p.Gly1248Ser Uncertain significance Single submitter
- COBL p.Gly14Arg Uncertain significance Single submitter
- COBL p.Gly729Arg Uncertain significance Single submitter
- COBL p.Ile544Thr Uncertain significance Single submitter
- COBL p.Lys331Gln Uncertain significance Single submitter
- COBL p.Met63Thr Uncertain significance Single submitter
- COBL p.Pro100Ala Uncertain significance Single submitter
- COBL p.Pro1210Ser Uncertain significance Single submitter
- COBL p.Val1261Met Uncertain significance Single submitter
- COBL p.Val129Met Uncertain significance Single submitter
- COBL p.Val132Met Uncertain significance Single submitter
- COBL p.Val68Ala Uncertain significance Single submitter
All COBL variants
Benign 7
- p.Ala57= Multiple submitters
- p.Ala655Pro Multiple submitters
- p.His601Tyr Multiple submitters
- p.Ser47= Multiple submitters
- p.Ser513Phe Multiple submitters
- p.Thr1234= Multiple submitters
- p.Tyr222= Multiple submitters
Likely benign 21
- p.Gly534Ser Multiple submitters
- p.Ala521Val Single submitter
- p.Ala744Thr Single submitter
- p.Ala892= Single submitter
- p.Ala900Val Single submitter
- p.Arg1014His Single submitter
- p.Arg490His Single submitter
- p.Arg53His Single submitter
- p.Arg951Ser Single submitter
- p.Arg986His Single submitter
- p.Asn523Ser Single submitter
- p.Asp1243= Single submitter
- p.Cys654Ser Single submitter
- p.Glu658= Single submitter
- p.Gly1047Ser Single submitter
- p.Leu385Pro Single submitter
- p.Met63Val Single submitter
- p.Thr800Met Single submitter
- p.Tyr891Cys Single submitter
- p.Val1072Met Single submitter
- p.Val417Ile Single submitter
Uncertain significance 209
- c.958-41_960del Single submitter
- p.Ala1130Ser Single submitter ⚠
- p.Ala1170Pro Single submitter ⚠
- p.Ala1184Thr Single submitter ⚠
- p.Ala1205Thr Single submitter ⚠
- p.Ala1235Thr Single submitter ⚠
- p.Ala1237Thr Single submitter ⚠
- p.Ala1251Pro Single submitter ⚠
- p.Ala1251Thr Single submitter
- p.Ala44Thr Single submitter ⚠
- p.Ala486Gly Single submitter ⚠
- p.Ala580Val Single submitter ⚠
- p.Ala599Val Single submitter ⚠
- p.Ala682Pro Single submitter ⚠
- p.Ala759Gly Single submitter ⚠
- p.Ala84Val Single submitter ⚠
- p.Ala873Val Single submitter ⚠
- p.Arg108Gln Single submitter ⚠
- p.Arg1101Ile Single submitter ⚠
- p.Arg1125Gly Single submitter ⚠
- p.Arg1127Cys Single submitter ⚠
- p.Arg1127His Single submitter ⚠
- p.Arg1127Leu Single submitter ⚠
- p.Arg1150Gln Single submitter ⚠
- p.Arg1253Ser Single submitter ⚠
- p.Arg156Cys Single submitter ⚠
- p.Arg156His Single submitter ⚠
- p.Arg163Gln Single submitter ⚠
- p.Arg170Cys Single submitter ⚠
- p.Arg275Cys Single submitter ⚠
- p.Arg300Cys Single submitter ⚠
- p.Arg334Gln Single submitter ⚠
- p.Arg353Cys Single submitter ⚠
- p.Arg490Cys Single submitter ⚠
- p.Arg53Pro Single submitter ⚠
- p.Arg594Lys Single submitter ⚠
- p.Arg691Gln Single submitter ⚠
- p.Arg700Lys Single submitter ⚠
- p.Arg748Lys Single submitter ⚠
- p.Arg806Thr Single submitter ⚠
- p.Arg845Ser Single submitter ⚠
- p.Arg875Cys Single submitter ⚠
- p.Arg875Leu Single submitter ⚠
- p.Arg986Cys Single submitter ⚠
- p.Arg986Leu Single submitter ⚠
- p.Asn201Ser Single submitter ⚠
- p.Asn226Asp Single submitter ⚠
- p.Asn238Ser Single submitter ⚠
- p.Asn559Ser Single submitter ⚠
- p.Asn644Ile Single submitter ⚠
- p.Asn672Asp Single submitter ⚠
- p.Asn774Ser Single submitter ⚠
- p.Asp1017His Single submitter ⚠
- p.Asp1106His Single submitter ⚠
- p.Asp1182Asn Single submitter ⚠
- p.Asp1236Asn Single submitter ⚠
- p.Asp379Asn Single submitter ⚠
- p.Asp497Gly Single submitter ⚠
- p.Asp606Gly Single submitter ⚠
- p.Asp641Asn Single submitter ⚠
- p.Asp656Glu Single submitter ⚠
- p.Asp678Asn Single submitter ⚠
- p.Asp721His Single submitter ⚠
- p.Cys1032Tyr Single submitter ⚠
- p.Cys376Gly Single submitter ⚠
- p.Cys993Tyr Single submitter ⚠
- p.Gln1030His Single submitter ⚠
- p.Gln1100Arg Single submitter ⚠
- p.Gln49Arg Single submitter ⚠
- p.Gln588His Single submitter ⚠
- p.Gln866Arg Single submitter ⚠
- p.Glu1005Ala Single submitter ⚠
- p.Glu1035Lys Single submitter ⚠
- p.Glu1067Gln Single submitter ⚠
- p.Glu1145Lys Single submitter ⚠
- p.Glu1149Gln Single submitter ⚠
- p.Glu1149Lys Single submitter ⚠
- p.Glu1175Gln Single submitter ⚠
- p.Glu208Gly Single submitter
- p.Glu355Asp Single submitter ⚠
- p.Glu570Asp Single submitter ⚠
- p.Glu664Gln Single submitter ⚠
- p.Glu735Lys Single submitter ⚠
- p.Glu777Val Single submitter ⚠
- p.Glu942Gly Single submitter ⚠
- p.Gly1134Arg Single submitter ⚠
- p.Gly1248Ser Single submitter ⚠
- p.Gly14Arg Single submitter ⚠
- p.Gly262Ser Single submitter ⚠
- p.Gly280Ser Single submitter ⚠
- p.Gly280Val Single submitter ⚠
- p.Gly46Arg Single submitter ⚠
- p.Gly520Arg Single submitter ⚠
- p.Gly610Arg Single submitter ⚠
- p.Gly653Asp Single submitter ⚠
- p.Gly657Arg Single submitter ⚠
- p.Gly704Ser Single submitter ⚠
- p.Gly729Arg Single submitter ⚠
- p.Gly746Ser Single submitter ⚠
- p.Gly830Val Single submitter ⚠
- p.Gly895Val Single submitter ⚠
- p.Gly952Val Single submitter ⚠
- p.His1025Pro Single submitter ⚠
- p.His41Asp Single submitter ⚠
- p.His41Tyr Single submitter ⚠
- p.His586Tyr Single submitter ⚠
- p.His590Leu Single submitter ⚠
- p.Ile124Met Single submitter ⚠
- p.Ile416Val Single submitter ⚠
- p.Ile544Thr Single submitter ⚠
- p.Ile711Thr Single submitter ⚠
- p.Ile764Thr Single submitter ⚠
- p.Ile814Val Single submitter ⚠
- p.Leu1200Phe Single submitter ⚠
- p.Leu1217Arg Single submitter ⚠
- p.Leu134Arg Single submitter ⚠
- p.Leu493Phe Single submitter ⚠
- p.Leu496Phe Single submitter ⚠
- p.Leu79Phe Single submitter ⚠
- p.Leu903Val Single submitter ⚠
- p.Leu92Pro Single submitter ⚠
- p.Lys1069Glu Single submitter ⚠
- p.Lys253Arg Single submitter ⚠
- p.Lys294Glu Single submitter ⚠
- p.Lys331Gln Single submitter ⚠
- p.Lys357Glu Single submitter ⚠
- p.Lys646Asn Single submitter ⚠
- p.Lys926Glu Single submitter ⚠
- p.Met297Val Single submitter ⚠
- p.Met410Ile Single submitter ⚠
- p.Met63Leu Single submitter ⚠
- p.Met63Thr Single submitter ⚠
- p.Met839Ile Single submitter ⚠
- p.Pro100Ala Single submitter ⚠
- p.Pro1022Ser Single submitter ⚠
- p.Pro1023Ala Single submitter ⚠
- p.Pro1053Arg Single submitter ⚠
- p.Pro1091Leu Single submitter
- p.Pro1097Leu Single submitter
- p.Pro115Arg Single submitter ⚠
- p.Pro1203Leu Single submitter ⚠
- p.Pro1208Ser Single submitter ⚠
- p.Pro1210Ser Single submitter ⚠
- p.Pro147Leu Single submitter ⚠
- p.Pro148Leu Single submitter ⚠
- p.Pro148Ser Single submitter ⚠
- p.Pro305Thr Single submitter ⚠
- p.Pro339Arg Single submitter
- p.Pro343Ser Single submitter ⚠
- p.Pro4Arg Single submitter ⚠
- p.Pro685Arg Single submitter ⚠
- p.Pro792Leu Single submitter ⚠
- p.Pro811Leu Single submitter ⚠
- p.Ser1040Ala Single submitter ⚠
- p.Ser1071Gly Single submitter ⚠
- p.Ser1087Thr Single submitter ⚠
- p.Ser1161Arg Single submitter ⚠
- p.Ser191Arg Single submitter ⚠
- p.Ser260Asn Single submitter ⚠
- p.Ser271Pro Single submitter ⚠
- p.Ser274Leu Single submitter ⚠
- p.Ser295Leu Single submitter ⚠
- p.Ser317Leu Single submitter ⚠
- p.Ser363Gly Single submitter ⚠
- p.Ser425Gly Single submitter ⚠
- p.Ser455Ile Single submitter ⚠
- p.Ser466Leu Single submitter ⚠
- p.Ser512Thr Single submitter ⚠
- p.Ser517Ala Single submitter ⚠
- p.Ser522Cys Single submitter ⚠
- p.Ser566Cys Single submitter ⚠
- p.Ser569Leu Single submitter ⚠
- p.Ser698Gly Single submitter ⚠
- p.Ser71Thr Single submitter ⚠
- p.Ser727Phe Single submitter ⚠
- p.Ser753Cys Single submitter ⚠
- p.Ser754Leu Single submitter ⚠
- p.Ser787Pro Single submitter ⚠
- p.Ser793Tyr Single submitter ⚠
- p.Ser7Leu Single submitter ⚠
- p.Thr1019Ile Single submitter ⚠
- p.Thr1107Arg Single submitter ⚠
- p.Thr1222Met Single submitter ⚠
- p.Thr122Ala Single submitter ⚠
- p.Thr126Ala Single submitter ⚠
- p.Thr13Ile Single submitter ⚠
- p.Thr265Met Single submitter ⚠
- p.Thr364Met Single submitter ⚠
- p.Thr403Met Single submitter ⚠
- p.Thr492Ala Single submitter ⚠
- p.Thr728Ile Single submitter ⚠
- p.Thr798Arg Single submitter ⚠
- p.Thr798Met Single submitter ⚠
- p.Thr935Ile Single submitter ⚠
- p.Thr963Ile Single submitter ⚠
- p.Val1169Leu Single submitter
- p.Val1261Met Single submitter ⚠
- p.Val129Met Single submitter ⚠
- p.Val132Met Single submitter ⚠
- p.Val195Met Single submitter
- p.Val293Met Single submitter ⚠
- p.Val666Met Single submitter ⚠
- p.Val68Ala Single submitter ⚠
- p.Val740Leu Single submitter ⚠
- p.Val756Met Single submitter ⚠
- p.Val844Met Single submitter ⚠
- p.Val854Asp Single submitter ⚠
- p.Val902Ala Single submitter ⚠
- p.Gly72Val No assertion criteria ⚠