CEP57L1 — 65 ClinVar variants
All ClinVar germline CEP57L1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 56 flagged for review →
2 Benign · 4 Likely benign · 59 Uncertain significance
Full CEP57L1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 56
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 52
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CEP57L1 p.Ala155Thr Uncertain significance Single submitter
- CEP57L1 p.Ala54Gly Uncertain significance Single submitter
- CEP57L1 p.Arg145Gln Uncertain significance Single submitter
- CEP57L1 p.Arg159Thr Uncertain significance Single submitter
- CEP57L1 p.Arg19Lys Uncertain significance Single submitter
- CEP57L1 p.Arg256Gln Uncertain significance Single submitter
- CEP57L1 p.Arg276Ser Uncertain significance Single submitter
- CEP57L1 p.Arg279His Uncertain significance Single submitter
- CEP57L1 p.Arg68Cys Uncertain significance Single submitter
- CEP57L1 p.Asn289Lys Uncertain significance Single submitter
- CEP57L1 p.Asn38Asp Uncertain significance Single submitter
- CEP57L1 p.Asn431Ile Uncertain significance Single submitter
- CEP57L1 p.Asp215Gly Uncertain significance Single submitter
- CEP57L1 p.Cys366Arg Uncertain significance Single submitter
- CEP57L1 p.Gln156His Uncertain significance Single submitter
- CEP57L1 p.Gln396Arg Uncertain significance Single submitter
- CEP57L1 p.Glu363Asp Uncertain significance Single submitter
- CEP57L1 p.Glu372Asp Uncertain significance Single submitter
- CEP57L1 p.Gly405Cys Uncertain significance Single submitter
- CEP57L1 p.His198Tyr Uncertain significance Single submitter
- CEP57L1 p.His239Gln Uncertain significance Single submitter
- CEP57L1 p.His278Asp Uncertain significance Single submitter
- CEP57L1 p.His7Arg Uncertain significance Single submitter
- CEP57L1 p.Ile117Val Uncertain significance Single submitter
- CEP57L1 p.Ile283Val Uncertain significance Single submitter
- CEP57L1 p.Ile56Val Uncertain significance Single submitter
- CEP57L1 p.Leu141Phe Uncertain significance Single submitter
- CEP57L1 p.Leu224Phe Uncertain significance Single submitter
- CEP57L1 p.Leu432Arg Uncertain significance Single submitter
- CEP57L1 p.Leu55Arg Uncertain significance Single submitter
- CEP57L1 p.Lys112Glu Uncertain significance Single submitter
- CEP57L1 p.Lys249Asn Uncertain significance Single submitter
- CEP57L1 p.Lys417Asn Uncertain significance Single submitter
- CEP57L1 p.Met6Ile Uncertain significance Single submitter
- CEP57L1 p.Met6Val Uncertain significance Single submitter
- CEP57L1 p.Phe21Ser Uncertain significance Single submitter
- CEP57L1 p.Phe270Leu Uncertain significance Single submitter
- CEP57L1 p.Phe270Ser Uncertain significance Single submitter
- CEP57L1 p.Pro16Arg Uncertain significance Single submitter
- CEP57L1 p.Pro299Leu Uncertain significance Single submitter
- CEP57L1 p.Pro310Leu Uncertain significance Single submitter
- CEP57L1 p.Ser116Cys Uncertain significance Single submitter
- CEP57L1 p.Ser121Ala Uncertain significance Single submitter
- CEP57L1 p.Ser12Gly Uncertain significance Single submitter
- CEP57L1 p.Ser218Pro Uncertain significance Single submitter
- CEP57L1 p.Ser304Cys Uncertain significance Single submitter
- CEP57L1 p.Thr428Ala Uncertain significance Single submitter
- CEP57L1 p.Thr61Ser Uncertain significance Single submitter
- CEP57L1 p.Val10Ala Uncertain significance Single submitter
- CEP57L1 p.Val143Ile Uncertain significance Single submitter
- CEP57L1 p.Val271Ala Uncertain significance Single submitter
- CEP57L1 p.Val290Leu Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All CEP57L1 variants
Benign 2
- p.Lys131= Single submitter
- p.Val10Leu Single submitter
Likely benign 4
- p.Arg443Gln Single submitter
- p.Arg68His Single submitter
- p.Phe270fs Single submitter
- p.Pro311Ser Single submitter
Uncertain significance 59
- p.Ala155Thr Single submitter ⚠
- p.Ala54Gly Single submitter ⚠
- p.Arg145Gln Single submitter ⚠
- p.Arg159Thr Single submitter ⚠
- p.Arg19Lys Single submitter ⚠
- p.Arg256Gln Single submitter ⚠
- p.Arg276Ser Single submitter ⚠
- p.Arg279His Single submitter ⚠
- p.Arg68Cys Single submitter ⚠
- p.Asn142Asp Single submitter
- p.Asn289Lys Single submitter ⚠
- p.Asn38Asp Single submitter ⚠
- p.Asn431Ile Single submitter ⚠
- p.Asp215Gly Single submitter ⚠
- p.Asp454Val Single submitter
- p.Cys366Arg Single submitter ⚠
- p.Gln156His Single submitter ⚠
- p.Gln396Arg Single submitter ⚠
- p.Glu363Asp Single submitter ⚠
- p.Glu372Asp Single submitter ⚠
- p.Gly405Cys Single submitter ⚠
- p.His198Tyr Single submitter ⚠
- p.His239Gln Single submitter ⚠
- p.His278Asp Single submitter ⚠
- p.His7Arg Single submitter ⚠
- p.Ile117Val Single submitter ⚠
- p.Ile283Val Single submitter ⚠
- p.Ile56Val Single submitter ⚠
- p.Ile66Asn Single submitter ⚠
- p.Leu141Phe Single submitter ⚠
- p.Leu224Phe Single submitter ⚠
- p.Leu326Phe Single submitter
- p.Leu432Arg Single submitter ⚠
- p.Leu55Arg Single submitter ⚠
- p.Lys112Glu Single submitter ⚠
- p.Lys249Asn Single submitter ⚠
- p.Lys417Asn Single submitter ⚠
- p.Met139Ile Single submitter ⚠
- p.Met371Val Single submitter ⚠
- p.Met6Ile Single submitter ⚠
- p.Met6Val Single submitter ⚠
- p.Phe21Ser Single submitter ⚠
- p.Phe270Leu Single submitter ⚠
- p.Phe270Ser Single submitter ⚠
- p.Pro16Arg Single submitter ⚠
- p.Pro299Leu Single submitter ⚠
- p.Pro310Leu Single submitter ⚠
- p.Ser116Cys Single submitter ⚠
- p.Ser121Ala Single submitter ⚠
- p.Ser12Gly Single submitter ⚠
- p.Ser218Pro Single submitter ⚠
- p.Ser304Cys Single submitter ⚠
- p.Thr428Ala Single submitter ⚠
- p.Thr61Ser Single submitter ⚠
- p.Val10Ala Single submitter ⚠
- p.Val140Gly Single submitter ⚠
- p.Val143Ile Single submitter ⚠
- p.Val271Ala Single submitter ⚠
- p.Val290Leu Single submitter ⚠