CEP44 — 44 ClinVar variants
All ClinVar germline CEP44 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →
6 Likely benign · 38 Uncertain significance
Full CEP44 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 38
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 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CEP44 p.Ala155Thr Uncertain significance Single submitter
- CEP44 p.Ala172Ser Uncertain significance Single submitter
- CEP44 p.Ala172Thr Uncertain significance Single submitter
- CEP44 p.Ala172Val Uncertain significance Single submitter
- CEP44 p.Ala349Gly Uncertain significance Single submitter
- CEP44 p.Arg82Cys Uncertain significance Single submitter
- CEP44 p.Arg8Gly Uncertain significance Single submitter
- CEP44 p.Asn183Ser Uncertain significance Single submitter
- CEP44 p.Asn278Ser Uncertain significance Single submitter
- CEP44 p.Asn296Lys Uncertain significance Single submitter
- CEP44 p.Asn62Asp Uncertain significance Single submitter
- CEP44 p.Asp159Val Uncertain significance Single submitter
- CEP44 p.Asp227Val Uncertain significance Single submitter
- CEP44 p.Asp316Val Uncertain significance Single submitter
- CEP44 p.Gln15His Uncertain significance Single submitter
- CEP44 p.Gln226Pro Uncertain significance Single submitter
- CEP44 p.Glu304Asp Uncertain significance Single submitter
- CEP44 p.Glu327Gln Uncertain significance Single submitter
- CEP44 p.Leu17His Uncertain significance Single submitter
- CEP44 p.Leu357Val Uncertain significance Single submitter
- CEP44 p.Lys256Asn Uncertain significance Single submitter
- CEP44 p.Met213Leu Uncertain significance Single submitter
- CEP44 p.Ser9Thr Uncertain significance Single submitter
- CEP44 p.Thr351Ile Uncertain significance Single submitter
- CEP44 p.Thr351Ser Uncertain significance Single submitter
- CEP44 p.Tyr179Cys Uncertain significance Single submitter
- CEP44 p.Tyr78Cys Uncertain significance Single submitter
- CEP44 p.Tyr78His Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- CEP44 p.Ala102Gly Uncertain significance Single submitter
- CEP44 p.Arg11Gln Uncertain significance Single submitter
- CEP44 p.Arg176Cys Uncertain significance Single submitter
- CEP44 p.Arg72His Uncertain significance Single submitter
- CEP44 p.Arg82His Uncertain significance Single submitter
- CEP44 p.Glu64Gln Uncertain significance Single submitter
- CEP44 p.Phe85Leu Uncertain significance Single submitter
- CEP44 p.Ser124Asn Uncertain significance Single submitter
- CEP44 p.Ser46Pro Uncertain significance Single submitter
- CEP44 p.Tyr22His Uncertain significance Single submitter
All CEP44 variants
Likely benign 6
- p.Glu325Lys Single submitter
- p.Ile129= Single submitter
- p.Ile160Val Single submitter
- p.Ile300Val Single submitter
- p.Leu146Ser Single submitter
- p.Val352Ile Single submitter
Uncertain significance 38
- p.Ala102Gly Single submitter ⚠
- p.Ala155Thr Single submitter ⚠
- p.Ala172Ser Single submitter ⚠
- p.Ala172Thr Single submitter ⚠
- p.Ala172Val Single submitter ⚠
- p.Ala349Gly Single submitter ⚠
- p.Arg11Gln Single submitter ⚠
- p.Arg176Cys Single submitter ⚠
- p.Arg72His Single submitter ⚠
- p.Arg82Cys Single submitter ⚠
- p.Arg82His Single submitter ⚠
- p.Arg8Gly Single submitter ⚠
- p.Asn183Ser Single submitter ⚠
- p.Asn278Ser Single submitter ⚠
- p.Asn296Lys Single submitter ⚠
- p.Asn62Asp Single submitter ⚠
- p.Asp159Val Single submitter ⚠
- p.Asp227Val Single submitter ⚠
- p.Asp316Val Single submitter ⚠
- p.Gln15His Single submitter ⚠
- p.Gln226Pro Single submitter ⚠
- p.Glu304Asp Single submitter ⚠
- p.Glu327Gln Single submitter ⚠
- p.Glu64Gln Single submitter ⚠
- p.Leu17His Single submitter ⚠
- p.Leu357Val Single submitter ⚠
- p.Lys256Asn Single submitter ⚠
- p.Met213Leu Single submitter ⚠
- p.Phe85Leu Single submitter ⚠
- p.Ser124Asn Single submitter ⚠
- p.Ser46Pro Single submitter ⚠
- p.Ser9Thr Single submitter ⚠
- p.Thr351Ile Single submitter ⚠
- p.Thr351Ser Single submitter ⚠
- p.Tyr179Cys Single submitter ⚠
- p.Tyr22His Single submitter ⚠
- p.Tyr78Cys Single submitter ⚠
- p.Tyr78His Single submitter ⚠