CEP19 — 113 ClinVar variants

All ClinVar germline CEP19 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

1 Pathogenic · 2 Conflicting · 5 Benign · 27 Likely benign · 78 Uncertain significance

Full CEP19 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All CEP19 variants

Pathogenic 1

p.Tyr61Ter No assertion criteria Bardet-Biedl syndrome

Conflicting classifications of pathogenicity 2

p.Arg78Ter Single submitter obesity due to CEP19 deficiency
p.Ser82= Single submitter

Benign 5

c.-11T>C Multiple submitters obesity due to CEP19 deficiency
c.-6A>G Multiple submitters
p.Pro56= Multiple submitters
p.Glu91Gln Single submitter
p.Leu73= Single submitter

Likely benign 27

c.130+15A>G Single submitter
c.131-10T>C Single submitter
c.131-13T>A Single submitter
c.131-6T>C Single submitter
c.131-8T>C Single submitter
p.Ala48= Single submitter
p.Arg11= Single submitter
p.Arg32= Single submitter
p.Arg68= Single submitter
p.Asn106= Single submitter
p.Asp147= Single submitter
p.Gln13= Single submitter
p.Gln92= Single submitter
p.Glu112= Single submitter
p.Gly27= Single submitter
p.His58= Single submitter
p.Ile119= Single submitter
p.Leu105= Single submitter
p.Lys115= Single submitter
p.Lys131= Single submitter
p.Phe74= Single submitter
p.Pro101= Single submitter
p.Pro14= Single submitter
p.Pro145= Single submitter
p.Thr157= Single submitter
p.Thr97= Single submitter
p.Tyr138= Single submitter

Uncertain significance 78

p.Arg32His Multiple submitters
p.Arg95Trp Multiple submitters obesity due to CEP19 deficiency
p.Gly27Arg Multiple submitters
p.Ile33Val Multiple submitters
p.Lys111Arg Multiple submitters
p.Met1Thr Multiple submitters
p.Pro56Leu Multiple submitters
p.Ser75Gly Multiple submitters
p.Ser82Leu Multiple submitters
p.Tyr138Cys Multiple submitters
p.Val142Gly Multiple submitters
c.130+3A>T Single submitter
c.-13_-1del Single submitter
p.Ala5Ser Single submitter
p.Arg116Gly Single submitter
p.Arg30Cys Single submitter
p.Arg30Gly Single submitter
p.Arg32Cys Single submitter
p.Arg37Ter Single submitter
p.Arg47Gly Single submitter
p.Arg57Gln Single submitter
p.Arg57Ter Single submitter
p.Arg95Gln Single submitter
p.Arg95Pro Single submitter
p.Asn38Asp Single submitter
p.Asn38Thr Single submitter
p.Asn54Ser Single submitter
p.Asp110Glu Single submitter
p.Asp121Asn Single submitter
p.Asp121Gly Single submitter
p.Asp148_Ser152del Single submitter
p.Asp156Asn Single submitter
p.Gln31His Single submitter optic atrophy
p.Gln31Lys Single submitter
p.Gln51fs Single submitter
p.Gln51Glu Single submitter
p.Gln92Pro Single submitter
p.Glu125Gly Single submitter
p.Glu143Gln Single submitter
p.Glu143Lys Single submitter
p.Glu158Asp Single submitter
p.Glu50Lys Single submitter
p.Glu71Lys Single submitter
p.Gly154Ala Single submitter
p.Gly154Asp Single submitter
p.Gly83Glu Single submitter
p.His58fs Single submitter
p.His58Tyr Single submitter
p.Ile140Thr Single submitter
p.Ile18Thr Single submitter
p.Ile33Thr Single submitter
p.Ile99Thr Single submitter
p.Ile99Val Single submitter
p.Leu81Ser Single submitter
p.Lys131del Single submitter
p.Lys28Glu Single submitter
p.Lys41Glu Single submitter
p.Lys53Asn Single submitter
p.Lys59fs Single submitter
p.Lys7Thr Single submitter
p.Met120Lys Single submitter
p.Met2Thr Single submitter
p.Met90Ile Single submitter
p.Met90Val Single submitter
p.Phe124Leu Single submitter
p.Pro101Ser Single submitter
p.Pro134Ser Single submitter
p.Pro14Ser Single submitter
p.Ser40Pro Single submitter
p.Ser60fs Single submitter
p.Ter164Gly Single submitter
p.Thr46Ser Single submitter
p.Thr4Ala Single submitter
p.Thr4Ser Single submitter
p.Thr97Arg Single submitter
p.Trp155Ter Single submitter
p.Tyr21Phe Single submitter
p.Val65Ile Single submitter