CEP162 — 204 ClinVar variants

All ClinVar germline CEP162 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 188 flagged for review →

2 Conflicting · 1 Benign · 15 Likely benign · 186 Uncertain significance

Full CEP162 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 188

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 agree, ClinVar conflicts 2

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 125

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

Predictors split 61

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

All CEP162 variants

Conflicting classifications of pathogenicity 2

p.Ala84Pro Single submitter ⚠
p.Gln88Leu Single submitter ⚠

Benign 1

p.Leu976= Single submitter

Likely benign 15

p.Arg744Gln Single submitter
p.Arg767His Single submitter
p.Asp1114Glu Single submitter
p.Glu534Gly Single submitter
p.His1019Asp Single submitter
p.Ile414Val Single submitter
p.Lys1350= Single submitter
p.Lys553Arg Single submitter
p.Lys914Arg Single submitter
p.Met1201Val Single submitter
p.Met77Thr Single submitter
p.Phe819Leu Single submitter
p.Ser93Gly Single submitter
p.Tyr1177Cys Single submitter
p.Val1313Met Single submitter

Uncertain significance 186

p.Leu1052Pro Multiple submitters ⚠
p.Ala1224Val Single submitter ⚠
p.Ala1359Gly Single submitter ⚠
p.Ala190Thr Single submitter ⚠
p.Ala375Asp Single submitter ⚠
p.Ala494Thr Single submitter ⚠
p.Ala508Val Single submitter ⚠
p.Ala629Val Single submitter ⚠
p.Ala794Thr Single submitter ⚠
p.Ala876Thr Single submitter ⚠
p.Ala918Thr Single submitter ⚠
p.Ala945Thr Single submitter ⚠
p.Ala952Thr Single submitter ⚠
p.Ala953Val Single submitter ⚠
p.Arg1116Lys Single submitter ⚠
p.Arg1283Gln Single submitter ⚠
p.Arg1299Lys Single submitter ⚠
p.Arg1325Ser Single submitter ⚠
p.Arg1329Ile Single submitter ⚠
p.Arg1364Cys Single submitter ⚠
p.Arg1364His Single submitter ⚠
p.Arg137Gly Single submitter ⚠
p.Arg137Lys Single submitter ⚠
p.Arg1381Gln Single submitter ⚠
p.Arg1385Trp Single submitter ⚠
p.Arg582Cys Single submitter ⚠
p.Arg618Lys Single submitter ⚠
p.Arg792Trp Single submitter ⚠
p.Arg857Cys Single submitter ⚠
p.Arg878Gln Single submitter ⚠
p.Arg878Gly Single submitter ⚠
p.Arg906Trp Single submitter ⚠
p.Arg926Gln Single submitter ⚠
p.Arg937Lys Single submitter ⚠
p.Asn1191Lys Single submitter ⚠
p.Asn1237Lys Single submitter ⚠
p.Asn172Ser Single submitter ⚠
p.Asn218Ile Single submitter ⚠
p.Asn391Ile Single submitter ⚠
p.Asn541Asp Single submitter ⚠
p.Asn549Ser Single submitter ⚠
p.Asn669Ser Single submitter ⚠
p.Asn683Ser Single submitter ⚠
p.Asp1068Val Single submitter ⚠
p.Asp1070Tyr Single submitter ⚠
p.Asp1138Glu Single submitter ⚠
p.Asp1155Asn Single submitter ⚠
p.Asp1378His Single submitter ⚠
p.Asp52Asn Single submitter ⚠
p.Asp569Asn Single submitter ⚠
p.Asp733Glu Single submitter ⚠
p.Asp786His Single submitter ⚠
p.Asp980Glu Single submitter ⚠
p.Asp980Gly Single submitter ⚠
p.Cys4Phe Single submitter ⚠
p.Gln1072Leu Single submitter ⚠
p.Gln1203His Single submitter ⚠
p.Gln1274Arg Single submitter ⚠
p.Gln309Glu Single submitter ⚠
p.Gln400Arg Single submitter ⚠
p.Gln485His Single submitter ⚠
p.Gln630Glu Single submitter ⚠
p.Gln658Pro Single submitter ⚠
p.Gln6Arg Single submitter ⚠
p.Gln922Glu Single submitter ⚠
p.Glu1006Gly Single submitter ⚠
p.Glu1009Lys Single submitter ⚠
p.Glu1028Gln Single submitter ⚠
p.Glu1182Lys Single submitter ⚠
p.Glu1257Lys Single submitter ⚠
p.Glu12Gly Single submitter ⚠
p.Glu26Gly Single submitter ⚠
p.Glu329Gly Single submitter ⚠
p.Glu376Lys Single submitter ⚠
p.Glu478Asp Single submitter ⚠
p.Gly1387Val Single submitter ⚠
p.Gly141Arg Single submitter ⚠
p.Gly559Val Single submitter ⚠
p.Gly628Cys Single submitter ⚠
p.Gly628Ser Single submitter ⚠
p.Gly954Ser Single submitter ⚠
p.His1019Tyr Single submitter ⚠
p.His1141Tyr Single submitter ⚠
p.His115Arg Single submitter ⚠
p.His1168Pro Single submitter ⚠
p.His1326Arg Single submitter ⚠
p.His298Arg Single submitter ⚠
p.His298Tyr Single submitter ⚠
p.His301Gln Single submitter ⚠
p.His326Asp Single submitter ⚠
p.His573Leu Single submitter ⚠
p.Ile1230Thr Single submitter ⚠
p.Ile260Arg Single submitter ⚠
p.Ile337Thr Single submitter ⚠
p.Ile361Ser Single submitter ⚠
p.Ile633Thr Single submitter ⚠
p.Ile79Thr Single submitter ⚠
p.Ile905Val Single submitter ⚠
p.Ile921Val Single submitter ⚠
p.Ile947Thr Single submitter ⚠
p.Leu1012Val Single submitter ⚠
p.Leu1031Val Single submitter ⚠
p.Leu1052Arg Single submitter ⚠
p.Leu1249Arg Single submitter ⚠
p.Leu1259His Single submitter ⚠
p.Leu1277Val Single submitter ⚠
p.Leu1287Ile Single submitter ⚠
p.Leu1294Val Single submitter ⚠
p.Leu142Phe Single submitter ⚠
p.Leu142Trp Single submitter ⚠
p.Leu206Met Single submitter ⚠
p.Leu366Val Single submitter ⚠
p.Leu497Val Single submitter ⚠
p.Leu542Val Single submitter ⚠
p.Leu614Pro Single submitter ⚠
p.Leu665Phe Single submitter ⚠
p.Leu769Val Single submitter ⚠
p.Leu943Ser Single submitter ⚠
p.Leu976Pro Single submitter ⚠
p.Lys1029Arg Single submitter ⚠
p.Lys1029Asn Single submitter ⚠
p.Lys1062Gln Single submitter ⚠
p.Lys1106Arg Single submitter ⚠
p.Lys1133Arg Single submitter ⚠
p.Lys1252Asn Single submitter ⚠
p.Lys1318Thr Single submitter ⚠
p.Lys1356Arg Single submitter ⚠
p.Lys216Glu Single submitter ⚠
p.Lys36Gln Single submitter ⚠
p.Lys417Asn Single submitter ⚠
p.Lys464Arg Single submitter ⚠
p.Lys517Ile Single submitter ⚠
p.Lys664Thr Single submitter ⚠
p.Lys685Arg Single submitter ⚠
p.Lys704Glu Single submitter ⚠
p.Lys840Thr Single submitter ⚠
p.Lys897Gln Single submitter ⚠
p.Lys897Glu Single submitter ⚠
p.Lys971Arg Single submitter ⚠
p.Met1130Arg Single submitter ⚠
p.Met1324Val Single submitter ⚠
p.Met236Thr Single submitter ⚠
p.Met270Ile Single submitter ⚠
p.Met275Val Single submitter ⚠
p.Met443Ile Single submitter ⚠
p.Met615Val Single submitter ⚠
p.Met997Val Single submitter ⚠
p.Phe13Cys Single submitter ⚠
p.Phe359Ser Single submitter ⚠
p.Phe525Cys Single submitter ⚠
p.Pro1161Arg Single submitter ⚠
p.Pro205Leu Single submitter ⚠
p.Pro214Ala Single submitter ⚠
p.Pro487Gln Single submitter ⚠
p.Pro502Leu Single submitter ⚠
p.Ser1276Phe Single submitter ⚠
p.Ser194Asn Single submitter ⚠
p.Ser21Pro Single submitter ⚠
p.Ser285Arg Single submitter ⚠
p.Ser362Arg Single submitter ⚠
p.Ser371Pro Single submitter ⚠
p.Ser385Phe Single submitter ⚠
p.Ser512Gly Single submitter ⚠
p.Ser539Arg Single submitter ⚠
p.Ser544Leu Single submitter ⚠
p.Ser558Pro Single submitter ⚠
p.Ser580Cys Single submitter ⚠
p.Thr1163Ala Single submitter ⚠
p.Thr1255Pro Single submitter ⚠
p.Thr419Ala Single submitter ⚠
p.Thr62Lys Single submitter ⚠
p.Thr699Ala Single submitter ⚠
p.Thr715Ile Single submitter ⚠
p.Thr72Ile Single submitter ⚠
p.Trp626Arg Single submitter ⚠
p.Tyr193His Single submitter ⚠
p.Tyr201Cys Single submitter ⚠
p.Tyr515Cys Single submitter ⚠
p.Tyr66Cys Single submitter ⚠
p.Tyr66His Single submitter ⚠
p.Val1200Met Single submitter ⚠
p.Val1278Ile Single submitter ⚠
p.Val249Ile Single submitter ⚠
p.Val454Ala Single submitter ⚠
p.Val698Ala Single submitter ⚠
p.Val756Ile Single submitter ⚠