CSE1L — 75 ClinVar variants
All ClinVar germline CSE1L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →
2 Likely benign · 73 Uncertain significance
Full CSE1L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 64
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 55
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CSE1L p.Ala179Ser Uncertain significance Single submitter
- CSE1L p.Ala190Val Uncertain significance Single submitter
- CSE1L p.Ala417Thr Uncertain significance Single submitter
- CSE1L p.Ala543Val Uncertain significance Single submitter
- CSE1L p.Ala547Val Uncertain significance Single submitter
- CSE1L p.Arg137His Uncertain significance Single submitter
- CSE1L p.Arg288Gln Uncertain significance Single submitter
- CSE1L p.Arg528Trp Uncertain significance Single submitter
- CSE1L p.Asn316Ser Uncertain significance Single submitter
- CSE1L p.Asn537Ser Uncertain significance Single submitter
- CSE1L p.Asn95Asp Uncertain significance Single submitter
- CSE1L p.Asp178Val Uncertain significance Single submitter
- CSE1L p.Asp201Asn Uncertain significance Single submitter
- CSE1L p.Asp22Glu Uncertain significance Single submitter
- CSE1L p.Asp283Asn Uncertain significance Single submitter
- CSE1L p.Asp380Val Uncertain significance Single submitter
- CSE1L p.Asp764Gly Uncertain significance Single submitter
- CSE1L p.Cys325Phe Uncertain significance Single submitter
- CSE1L p.Gln125Lys Uncertain significance Single submitter
- CSE1L p.Gln40Glu Uncertain significance Single submitter
- CSE1L p.Glu105Asp Uncertain significance Single submitter
- CSE1L p.Glu229Asp Uncertain significance Single submitter
- CSE1L p.Glu307Gly Uncertain significance Single submitter
- CSE1L p.Glu761Gln Uncertain significance Single submitter
- CSE1L p.Glu913Gln Uncertain significance Single submitter
- CSE1L p.Gly484Ser Uncertain significance Single submitter
- CSE1L p.His329Tyr Uncertain significance Single submitter
- CSE1L p.His446Leu Uncertain significance Single submitter
- CSE1L p.His524Tyr Uncertain significance Single submitter
- CSE1L p.Ile192Thr Uncertain significance Single submitter
- CSE1L p.Ile622Met Uncertain significance Single submitter
- CSE1L p.Ile626Val Uncertain significance Single submitter
- CSE1L p.Ile719Leu Uncertain significance Single submitter
- CSE1L p.Ile76Ser Uncertain significance Single submitter
- CSE1L p.Ile884Thr Uncertain significance Single submitter
- CSE1L p.Leu374Val Uncertain significance Single submitter
- CSE1L p.Leu529Phe Uncertain significance Single submitter
- CSE1L p.Leu563Ile Uncertain significance Single submitter
- CSE1L p.Leu773Pro Uncertain significance Single submitter
- CSE1L p.Lys395Arg Uncertain significance Single submitter
- CSE1L p.Lys736Asn Uncertain significance Single submitter
- CSE1L p.Lys782Arg Uncertain significance Single submitter
- CSE1L p.Met239Ile Uncertain significance Single submitter
- CSE1L p.Met667Arg Uncertain significance Single submitter
- CSE1L p.Phe230Tyr Uncertain significance Single submitter
- CSE1L p.Ser112Asn Uncertain significance Single submitter
- CSE1L p.Ser503Leu Uncertain significance Single submitter
- CSE1L p.Thr295Ala Uncertain significance Single submitter
- CSE1L p.Thr937Ile Uncertain significance Single submitter
- CSE1L p.Tyr432Phe Uncertain significance Single submitter
- CSE1L p.Val36Ile Uncertain significance Single submitter
- CSE1L p.Val502Ile Uncertain significance Single submitter
- CSE1L p.Val605Ile Uncertain significance Single submitter
- CSE1L p.Val663Ile Uncertain significance Single submitter
- CSE1L p.Val77Ala Uncertain significance Single submitter
Predictors split 9
The independent predictors disagree with each other — read with care.
- CSE1L p.Arg151His Uncertain significance Single submitter
- CSE1L p.Arg533Pro Uncertain significance Single submitter
- CSE1L p.Leu624Phe Uncertain significance Single submitter
- CSE1L p.Met235Val Uncertain significance Single submitter
- CSE1L p.Met489Thr Uncertain significance Single submitter
- CSE1L p.Thr185Ile Uncertain significance Single submitter
- CSE1L p.Thr304Ala Uncertain significance Single submitter
- CSE1L p.Thr542Pro Uncertain significance Single submitter
- CSE1L p.Tyr289His Uncertain significance Single submitter
All CSE1L variants
Likely benign 2
- p.Ala538Thr Single submitter
- p.Tyr521= Single submitter
Uncertain significance 73
- p.Ala179Ser Single submitter ⚠
- p.Ala190Val Single submitter ⚠
- p.Ala417Thr Single submitter ⚠
- p.Ala438Ser Single submitter
- p.Ala513Thr Single submitter
- p.Ala543Val Single submitter ⚠
- p.Ala547Val Single submitter ⚠
- p.Arg137His Single submitter ⚠
- p.Arg151His Single submitter ⚠
- p.Arg288Gln Single submitter ⚠
- p.Arg528Trp Single submitter ⚠
- p.Arg533Pro Single submitter ⚠
- p.Asn316Ser Single submitter ⚠
- p.Asn537Ser Single submitter ⚠
- p.Asn95Asp Single submitter ⚠
- p.Asp178Val Single submitter ⚠
- p.Asp201Asn Single submitter ⚠
- p.Asp22Glu Single submitter ⚠
- p.Asp283Asn Single submitter ⚠
- p.Asp380Val Single submitter ⚠
- p.Asp764Gly Single submitter ⚠
- p.Cys325Phe Single submitter ⚠
- p.Gln125Lys Single submitter ⚠
- p.Gln40Glu Single submitter ⚠
- p.Glu105Asp Single submitter ⚠
- p.Glu229Asp Single submitter ⚠
- p.Glu307Gly Single submitter ⚠
- p.Glu761Gln Single submitter ⚠
- p.Glu913Gln Single submitter ⚠
- p.Gly141fs Single submitter
- p.Gly484Ser Single submitter ⚠
- p.His329Tyr Single submitter ⚠
- p.His446Leu Single submitter ⚠
- p.His524Tyr Single submitter ⚠
- p.Ile192Thr Single submitter ⚠
- p.Ile622Met Single submitter ⚠
- p.Ile626Val Single submitter ⚠
- p.Ile719Leu Single submitter ⚠
- p.Ile76Ser Single submitter ⚠
- p.Ile884Thr Single submitter ⚠
- p.Leu300Val Single submitter
- p.Leu374Val Single submitter ⚠
- p.Leu529Phe Single submitter ⚠
- p.Leu563Ile Single submitter ⚠
- p.Leu624Phe Single submitter ⚠
- p.Leu773Pro Single submitter ⚠
- p.Lys395Arg Single submitter ⚠
- p.Lys497Glu Single submitter
- p.Lys736Asn Single submitter ⚠
- p.Lys782Arg Single submitter ⚠
- p.Met235Val Single submitter ⚠
- p.Met239Ile Single submitter ⚠
- p.Met352Val Single submitter
- p.Met489Thr Single submitter ⚠
- p.Met667Arg Single submitter ⚠
- p.Phe230Tyr Single submitter ⚠
- p.Pro291Ser Single submitter
- p.Ser112Asn Single submitter ⚠
- p.Ser503Leu Single submitter ⚠
- p.Thr185Ile Single submitter ⚠
- p.Thr295Ala Single submitter ⚠
- p.Thr304Ala Single submitter ⚠
- p.Thr542Pro Single submitter ⚠
- p.Thr937Ile Single submitter ⚠
- p.Tyr289His Single submitter ⚠
- p.Tyr432Phe Single submitter ⚠
- p.Tyr521Ter Single submitter
- p.Val36Ile Single submitter ⚠
- p.Val502Ile Single submitter ⚠
- p.Val605Ile Single submitter ⚠
- p.Val663Ile Single submitter ⚠
- p.Val693Gly Single submitter
- p.Val77Ala Single submitter ⚠