CRLS1 — 48 ClinVar variants
All ClinVar germline CRLS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →
3 Pathogenic · 6 Likely benign · 39 Uncertain significance
Full CRLS1 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 33
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CRLS1 p.Ala136Glu Uncertain significance Single submitter
- CRLS1 p.Ala13Pro Uncertain significance Single submitter
- CRLS1 p.Ala13Thr Uncertain significance Single submitter
- CRLS1 p.Ala17Ser Uncertain significance Single submitter
- CRLS1 p.Ala80Thr Uncertain significance Single submitter
- CRLS1 p.Ala80Val Uncertain significance Single submitter
- CRLS1 p.Ala86Val Uncertain significance Single submitter
- CRLS1 p.Ala89Val Uncertain significance Single submitter
- CRLS1 p.Arg155Gln Uncertain significance Single submitter
- CRLS1 p.Arg24Gly Uncertain significance Single submitter
- CRLS1 p.Arg29Ser Uncertain significance Single submitter
- CRLS1 p.Asn263Ser Uncertain significance Single submitter
- CRLS1 p.Cys41Phe Uncertain significance Single submitter
- CRLS1 p.Gln65Arg Uncertain significance Single submitter
- CRLS1 p.Gly22Glu Uncertain significance Single submitter
- CRLS1 p.Gly92Ser Uncertain significance Single submitter
- CRLS1 p.His290Leu Uncertain significance Single submitter
- CRLS1 p.Leu14Arg Uncertain significance Single submitter
- CRLS1 p.Leu217Ile Uncertain significance Single submitter
- CRLS1 p.Leu270Pro Uncertain significance Single submitter
- CRLS1 p.Leu2Ile Uncertain significance Single submitter
- CRLS1 p.Leu51Pro Uncertain significance Single submitter
- CRLS1 p.Met112Ile Uncertain significance Single submitter
- CRLS1 p.Phe276Cys Uncertain significance Single submitter
- CRLS1 p.Pro110Leu Uncertain significance Single submitter
- CRLS1 p.Pro21Leu Uncertain significance Single submitter
- CRLS1 p.Pro21Ser Uncertain significance Single submitter
- CRLS1 p.Pro25Arg Uncertain significance Single submitter
- CRLS1 p.Ser98Cys Uncertain significance Single submitter
- CRLS1 p.Thr116Met Uncertain significance Single submitter
- CRLS1 p.Trp274Arg Uncertain significance Single submitter
- CRLS1 p.Tyr211Phe Uncertain significance Single submitter
- CRLS1 p.Val6Met Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
- CRLS1 p.Asn228His Uncertain significance Single submitter
- CRLS1 p.Phe240Leu Uncertain significance Single submitter
- CRLS1 p.Pro220Ser Uncertain significance Single submitter
- CRLS1 p.Val209Ala Uncertain significance Single submitter
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CRLS1 p.Leu217Phe
Pathogenic
No assertion criteria
combined oxidative phosphorylation deficiency 57
All CRLS1 variants
Pathogenic 3
- p.Ala172Asp No assertion criteria combined oxidative phosphorylation deficiency 57
- p.Ile109Asn No assertion criteria combined oxidative phosphorylation deficiency 57
- p.Leu217Phe No assertion criteria combined oxidative phosphorylation deficiency 57 ⚠
Likely benign 6
- p.Ala18= Multiple submitters
- p.Tyr289= Multiple submitters
- c.444+182dup Single submitter
- p.Gln93Arg Single submitter
- p.Pro25= Single submitter
- p.Pro90Arg Single submitter
Uncertain significance 39
- p.Ala136Glu Single submitter ⚠
- p.Ala13Pro Single submitter ⚠
- p.Ala13Thr Single submitter ⚠
- p.Ala17Ser Single submitter ⚠
- p.Ala80Thr Single submitter ⚠
- p.Ala80Val Single submitter ⚠
- p.Ala86Val Single submitter ⚠
- p.Ala89Val Single submitter ⚠
- p.Arg155Gln Single submitter ⚠
- p.Arg24Gly Single submitter ⚠
- p.Arg29Ser Single submitter ⚠
- p.Asn228His Single submitter ⚠
- p.Asn263Ser Single submitter ⚠
- p.Cys41Phe Single submitter ⚠
- p.Gln65Arg Single submitter ⚠
- p.Gly22Glu Single submitter ⚠
- p.Gly92Ser Single submitter ⚠
- p.His290Leu Single submitter ⚠
- p.Leu14Arg Single submitter ⚠
- p.Leu217Ile Single submitter ⚠
- p.Leu270Pro Single submitter ⚠
- p.Leu2Ile Single submitter ⚠
- p.Leu51Pro Single submitter ⚠
- p.Lys27Ter Single submitter
- p.Met112Ile Single submitter ⚠
- p.Phe240Leu Single submitter ⚠
- p.Phe276Cys Single submitter ⚠
- p.Pro110Leu Single submitter ⚠
- p.Pro21Leu Single submitter ⚠
- p.Pro21Ser Single submitter ⚠
- p.Pro220Ser Single submitter ⚠
- p.Pro25Arg Single submitter ⚠
- p.Ser287Gly Single submitter
- p.Ser98Cys Single submitter ⚠
- p.Thr116Met Single submitter ⚠
- p.Trp274Arg Single submitter ⚠
- p.Tyr211Phe Single submitter ⚠
- p.Val209Ala Single submitter ⚠
- p.Val6Met Single submitter ⚠