CEP126 — 148 ClinVar variants

All ClinVar germline CEP126 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 123 flagged for review →

9 Benign · 18 Likely benign · 121 Uncertain significance

Full CEP126 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 123

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 106

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

Predictors split 17

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

All CEP126 variants

Benign 9

p.Gln146Glu Multiple submitters
p.His308Leu Multiple submitters
p.Leu226= Multiple submitters
p.Met1021Thr Multiple submitters
p.Pro710Ser Multiple submitters
p.Ser372Pro Multiple submitters
c.249-7A>C Single submitter
p.Ala178Thr Single submitter
p.Gly768= Single submitter

Likely benign 18

c.3309+8T>G Single submitter
p.Ala777Thr Single submitter
p.Ala926Thr Single submitter
p.Arg134Gln Single submitter
p.Arg278Gln Single submitter
p.Arg278Trp Single submitter ⚠
p.Arg963Gln Single submitter
p.Gly761Arg Single submitter
p.Leu993Gln Single submitter
p.Lys193Arg Single submitter
p.Lys501del Single submitter
p.Met392Val Single submitter
p.Met953Thr Single submitter
p.Pro919Gln Single submitter
p.Ser982Asn Single submitter
p.Thr461Met Single submitter ⚠
p.Val241= Single submitter
p.Val431Met Single submitter

Uncertain significance 121

p.Ala1028Thr Single submitter ⚠
p.Ala26Gly Single submitter ⚠
p.Ala26Pro Single submitter ⚠
p.Ala460Val Single submitter ⚠
p.Ala607Thr Single submitter ⚠
p.Ala864Gly Single submitter ⚠
p.Ala903Val Single submitter ⚠
p.Arg128Gln Single submitter ⚠
p.Arg128Trp Single submitter ⚠
p.Arg31Pro Single submitter ⚠
p.Arg5Trp Single submitter ⚠
p.Arg72His Single submitter ⚠
p.Arg751Ser Single submitter ⚠
p.Arg80Trp Single submitter ⚠
p.Arg89Gln Single submitter ⚠
p.Arg954Ile Single submitter ⚠
p.Arg957Gln Single submitter ⚠
p.Asn242Tyr Single submitter ⚠
p.Asn788Lys Single submitter ⚠
p.Asn836Ser Single submitter ⚠
p.Asn986Ser Single submitter ⚠
p.Asp486Glu Single submitter ⚠
p.Asp492Gly Single submitter ⚠
p.Asp867Ala Single submitter ⚠
p.Cys196Tyr Single submitter ⚠
p.Cys490Tyr Single submitter ⚠
p.Gln1098Pro Single submitter ⚠
p.Gln223Glu Single submitter ⚠
p.Gln235Lys Single submitter ⚠
p.Gln604Lys Single submitter ⚠
p.Gln792Lys Single submitter ⚠
p.Gln805Arg Single submitter ⚠
p.Glu101Gln Single submitter ⚠
p.Glu1034Lys Single submitter ⚠
p.Glu220Lys Single submitter ⚠
p.Glu341Gln Single submitter ⚠
p.Glu568Lys Single submitter ⚠
p.Glu622Asp Single submitter ⚠
p.Glu644Lys Single submitter ⚠
p.Glu696Lys Single submitter ⚠
p.Glu847Gly Single submitter ⚠
p.Glu916Asp Single submitter ⚠
p.Gly571Val Single submitter ⚠
p.Gly705Ala Single submitter ⚠
p.Gly752Asp Single submitter ⚠
p.His186Tyr Single submitter ⚠
p.His272Arg Single submitter ⚠
p.His567Pro Single submitter ⚠
p.His587Arg Single submitter ⚠
p.His739Asn Single submitter ⚠
p.His891Tyr Single submitter ⚠
p.His942Arg Single submitter ⚠
p.Ile452Met Single submitter ⚠
p.Ile505Arg Single submitter ⚠
p.Ile595Thr Single submitter ⚠
p.Ile66Leu Single submitter ⚠
p.Ile789Leu Single submitter ⚠
p.Leu1080Val Single submitter ⚠
p.Leu217His Single submitter ⚠
p.Leu234Ser Single submitter ⚠
p.Leu268Phe Single submitter ⚠
p.Leu268Pro Single submitter ⚠
p.Leu293Phe Single submitter ⚠
p.Leu337Gln Single submitter ⚠
p.Leu353Phe Single submitter ⚠
p.Leu875Pro Single submitter ⚠
p.Leu923Val Single submitter ⚠
p.Leu941Val Single submitter ⚠
p.Lys1053Ile Single submitter ⚠
p.Lys1105Arg Single submitter ⚠
p.Lys584Glu Single submitter ⚠
p.Lys625Gln Single submitter ⚠
p.Lys687Glu Single submitter ⚠
p.Lys723Thr Single submitter ⚠
p.Lys83Gln Single submitter ⚠
p.Lys888Glu Single submitter ⚠
p.Met288Ile Single submitter ⚠
p.Met709Ile Single submitter ⚠
p.Phe370Ser Single submitter ⚠
p.Phe886Tyr Single submitter ⚠
p.Pro1031Leu Single submitter ⚠
p.Pro136Leu Single submitter ⚠
p.Pro27Arg Single submitter ⚠
p.Pro39Ala Single submitter ⚠
p.Pro407Ser Single submitter ⚠
p.Pro516Ser Single submitter ⚠
p.Pro531Ala Single submitter ⚠
p.Pro710Leu Single submitter ⚠
p.Pro737Ala Single submitter ⚠
p.Pro781Arg Single submitter ⚠
p.Pro826Ser Single submitter ⚠
p.Pro876Ser Single submitter ⚠
p.Pro919Leu Single submitter ⚠
p.Ser1086Tyr Single submitter ⚠
p.Ser192Pro Single submitter ⚠
p.Ser20Leu Single submitter ⚠
p.Ser390Arg Single submitter ⚠
p.Ser399Phe Single submitter ⚠
p.Ser479Asn Single submitter ⚠
p.Ser545Phe Single submitter ⚠
p.Ser577Gly Single submitter ⚠
p.Ser734Gly Single submitter ⚠
p.Ser857Gly Single submitter ⚠
p.Ser982Arg Single submitter ⚠
p.Thr1037Ile Single submitter ⚠
p.Thr1096Ser Single submitter ⚠
p.Thr165Ile Single submitter ⚠
p.Thr280Ala Single submitter ⚠
p.Thr386Ser Single submitter ⚠
p.Thr410Ser Single submitter ⚠
p.Thr414Lys Single submitter ⚠
p.Thr636Ile Single submitter ⚠
p.Thr699Met Single submitter ⚠
p.Thr951Ala Single submitter ⚠
p.Trp934Cys Single submitter ⚠
p.Val336Ile Single submitter ⚠
p.Val357Leu Single submitter ⚠
p.Val556Phe Single submitter ⚠
p.Val681Ile Single submitter ⚠
p.Val818Leu Single submitter ⚠
p.Val952Ile Single submitter ⚠