COBLL1 — 199 ClinVar variants

All ClinVar germline COBLL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 178 flagged for review →

20 Likely benign · 179 Uncertain significance

Full COBLL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 178

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 124

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 54

The independent predictors disagree with each other — read with care.

All COBLL1 variants

Likely benign 20

p.Arg381His Multiple submitters
c.1225+1266C>T Single submitter
p.Ala396Val Single submitter
p.Ala946Thr Single submitter
p.Arg14Gly Single submitter ⚠
p.Glu1005Lys Single submitter
p.Glu171= Single submitter
p.Glu547Gly Single submitter ⚠
p.Gly343Asp Single submitter
p.Gly466Asp Single submitter
p.Gly940Ser Single submitter
p.Ile321Val Single submitter
p.Ile506Val Single submitter
p.Met475Val Single submitter
p.Pro1122Ser Single submitter
p.Pro439Leu Single submitter
p.Pro800= Single submitter
p.Ser745Leu Single submitter
p.Val263Ile Single submitter
p.Val673Ile Single submitter

Uncertain significance 179

c.1225+1238G>A Single submitter
c.1225+1259T>C Single submitter
c.1225+1313C>T Single submitter
p.Ala1011Val Single submitter ⚠
p.Ala1017Val Single submitter ⚠
p.Ala1124Asp Single submitter ⚠
p.Ala289Val Single submitter ⚠
p.Ala399Glu Single submitter ⚠
p.Ala826Val Single submitter ⚠
p.Ala885Thr Single submitter ⚠
p.Ala891Thr Single submitter ⚠
p.Ala895Pro Single submitter ⚠
p.Ala904Thr Single submitter ⚠
p.Ala976Ser Single submitter ⚠
p.Arg1003Cys Single submitter ⚠
p.Arg1003His Single submitter ⚠
p.Arg1090Cys Single submitter ⚠
p.Arg316Ser Single submitter ⚠
p.Arg381Cys Single submitter ⚠
p.Arg381Leu Single submitter ⚠
p.Arg655Gly Single submitter ⚠
p.Arg658Gly Single submitter ⚠
p.Arg856Trp Single submitter ⚠
p.Arg874Thr Single submitter ⚠
p.Asn1028Thr Single submitter ⚠
p.Asn1044Ile Single submitter ⚠
p.Asn453Ile Single submitter ⚠
p.Asn498Ser Single submitter ⚠
p.Asn518Lys Single submitter ⚠
p.Asn652His Single submitter ⚠
p.Asn695Lys Single submitter ⚠
p.Asn712Ser Single submitter ⚠
p.Asn772Lys Single submitter ⚠
p.Asn847Ser Single submitter ⚠
p.Asn859Asp Single submitter ⚠
p.Asn967Tyr Single submitter ⚠
p.Asp10Asn Single submitter ⚠
p.Asp10Gly Single submitter ⚠
p.Asp217Gly Single submitter ⚠
p.Asp328Ala Single submitter ⚠
p.Asp32Tyr Single submitter ⚠
p.Asp331Ala Single submitter ⚠
p.Asp377His Single submitter ⚠
p.Asp458Asn Single submitter ⚠
p.Asp458Tyr Single submitter ⚠
p.Asp495Val Single submitter ⚠
p.Asp57Val Single submitter ⚠
p.Asp588Asn Single submitter ⚠
p.Asp619Asn Single submitter ⚠
p.Asp619Gly Single submitter ⚠
p.Asp816Asn Single submitter ⚠
p.Asp832Gly Single submitter ⚠
p.Asp907Asn Single submitter ⚠
p.Cys88Ser Single submitter ⚠
p.Gln1050Arg Single submitter ⚠
p.Gln1068Glu Single submitter ⚠
p.Gln966Glu Single submitter ⚠
p.Gln9His Single submitter ⚠
p.Glu1005Ala Single submitter ⚠
p.Glu315Lys Single submitter ⚠
p.Glu477Asp Single submitter ⚠
p.Glu48Gly Single submitter ⚠
p.Glu48Val Single submitter ⚠
p.Glu543Gln Single submitter ⚠
p.Glu629Asp Single submitter ⚠
p.Glu720Asp Single submitter ⚠
p.Glu724Ala Single submitter ⚠
p.Glu913Gln Single submitter ⚠
p.Gly1127Ser Single submitter ⚠
p.Gly410Glu Single submitter ⚠
p.Gly548Asp Single submitter ⚠
p.His374Tyr Single submitter ⚠
p.His490Tyr Single submitter ⚠
p.His620Arg Single submitter ⚠
p.His680Asn Single submitter ⚠
p.His75Arg Single submitter ⚠
p.His806Tyr Single submitter ⚠
p.His889Leu Single submitter ⚠
p.Ile127Val Single submitter ⚠
p.Ile142Thr Single submitter ⚠
p.Ile231Thr Single submitter ⚠
p.Ile313Met Single submitter ⚠
p.Ile411Arg Single submitter ⚠
p.Ile451Thr Single submitter ⚠
p.Ile555Phe Single submitter ⚠
p.Ile574Val Single submitter ⚠
p.Ile736Thr Single submitter ⚠
p.Leu102Met Single submitter ⚠
p.Leu201Phe Single submitter ⚠
p.Leu23Phe Single submitter ⚠
p.Leu622Phe Single submitter ⚠
p.Leu622Ser Single submitter ⚠
p.Leu764Ser Single submitter ⚠
p.Lys158Arg Single submitter ⚠
p.Lys16Arg Single submitter ⚠
p.Lys29Arg Single submitter ⚠
p.Lys370Gln Single submitter ⚠
p.Lys423Asn Single submitter ⚠
p.Lys501Gln Single submitter ⚠
p.Lys616Arg Single submitter ⚠
p.Lys674Glu Single submitter ⚠
p.Lys735Glu Single submitter ⚠
p.Lys746Gln Single submitter ⚠
p.Lys897Thr Single submitter ⚠
p.Met232Thr Single submitter ⚠
p.Met300Lys Single submitter ⚠
p.Met350Val Single submitter ⚠
p.Met475Thr Single submitter ⚠
p.Met761Val Single submitter ⚠
p.Met908Arg Single submitter ⚠
p.Phe1030Ser Single submitter ⚠
p.Phe112Leu Single submitter ⚠
p.Pro138Ala Single submitter ⚠
p.Pro138His Single submitter ⚠
p.Pro140Ser Single submitter ⚠
p.Pro184Leu Single submitter ⚠
p.Pro198Ala Single submitter ⚠
p.Pro24Ser Single submitter ⚠
p.Pro286Leu Single submitter ⚠
p.Pro299Arg Single submitter ⚠
p.Pro299Leu Single submitter ⚠
p.Pro317Ser Single submitter ⚠
p.Pro489Ala Single submitter ⚠
p.Pro670Leu Single submitter ⚠
p.Pro713Ala Single submitter ⚠
p.Pro715Ser Single submitter ⚠
p.Pro809Leu Single submitter ⚠
p.Pro896Ala Single submitter ⚠
p.Pro929Ser Single submitter ⚠
p.Pro950His Single submitter ⚠
p.Pro987Leu Single submitter ⚠
p.Ser1000Arg Single submitter ⚠
p.Ser1026Tyr Single submitter ⚠
p.Ser104Leu Single submitter ⚠
p.Ser1069Gly Single submitter ⚠
p.Ser1075Asn Single submitter ⚠
p.Ser1091Leu Single submitter ⚠
p.Ser1121Tyr Single submitter ⚠
p.Ser195Trp Single submitter ⚠
p.Ser287Leu Single submitter ⚠
p.Ser326Asn Single submitter ⚠
p.Ser326Gly Single submitter ⚠
p.Ser395Gly Single submitter ⚠
p.Ser406Cys Single submitter ⚠
p.Ser407Gly Single submitter ⚠
p.Ser416Asn Single submitter ⚠
p.Ser42Phe Single submitter ⚠
p.Ser585Pro Single submitter ⚠
p.Ser876Leu Single submitter ⚠
p.Ser983Phe Single submitter ⚠
p.Thr1058Ala Single submitter ⚠
p.Thr1072Ile Single submitter ⚠
p.Thr146Ser Single submitter ⚠
p.Thr156Ile Single submitter ⚠
p.Thr269Ser Single submitter ⚠
p.Thr454Ile Single submitter ⚠
p.Thr570Pro Single submitter ⚠
p.Thr572Ala Single submitter ⚠
p.Thr653Asn Single submitter ⚠
p.Thr662Asn Single submitter ⚠
p.Thr662Ile Single submitter ⚠
p.Thr733Ala Single submitter ⚠
p.Thr733Ile Single submitter ⚠
p.Thr73Ile Single submitter ⚠
p.Thr769Ala Single submitter ⚠
p.Thr769Pro Single submitter ⚠
p.Thr835Ile Single submitter ⚠
p.Thr99Ala Single submitter ⚠
p.Trp748Arg Single submitter ⚠
p.Trp748Ser Single submitter ⚠
p.Tyr280Cys Single submitter ⚠
p.Tyr415Cys Single submitter ⚠
p.Tyr700Asn Single submitter ⚠
p.Val1031Leu Single submitter ⚠
p.Val1110Ala Single submitter ⚠
p.Val150Ala Single submitter ⚠
p.Val263Leu Single submitter ⚠
p.Val651Leu Single submitter ⚠
p.Val993Ala Single submitter ⚠