CSTL1 — 25 ClinVar variants
All ClinVar germline CSTL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 24 flagged for review →
1 Likely benign · 24 Uncertain significance
Full CSTL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 24
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CSTL1 p.Arg7Lys Uncertain significance Single submitter
- CSTL1 p.Asn46Ser Uncertain significance Single submitter
- CSTL1 p.Asn8Lys Uncertain significance Single submitter
- CSTL1 p.Gln32Arg Uncertain significance Single submitter
- CSTL1 p.Gln71Arg Uncertain significance Single submitter
- CSTL1 p.His24Tyr Uncertain significance Single submitter
- CSTL1 p.Leu144Arg Uncertain significance Single submitter
- CSTL1 p.Met36Leu Uncertain significance Single submitter
- CSTL1 p.Ser56Arg Uncertain significance Single submitter
- CSTL1 p.Ser70Gly Uncertain significance Single submitter
- CSTL1 p.Ser97Arg Uncertain significance Single submitter
- CSTL1 p.Thr76Met Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- CSTL1 p.Asn46Ile Uncertain significance Single submitter
- CSTL1 p.Asp58Val Uncertain significance Single submitter
- CSTL1 p.Ile124Val Uncertain significance Single submitter
- CSTL1 p.Ile86Thr Uncertain significance Single submitter
- CSTL1 p.Lys85Asn Uncertain significance Single submitter
- CSTL1 p.Lys85Thr Uncertain significance Single submitter
- CSTL1 p.Phe48Leu Uncertain significance Single submitter
- CSTL1 p.Pro122His Uncertain significance Single submitter
- CSTL1 p.Ser116Pro Uncertain significance Single submitter
- CSTL1 p.Ser51Tyr Uncertain significance Single submitter
- CSTL1 p.Thr75Met Uncertain significance Single submitter
- CSTL1 p.Thr83Asn Uncertain significance Single submitter
All CSTL1 variants
Likely benign 1
- p.Asn98Ser Single submitter
Uncertain significance 24
- p.Arg7Lys Single submitter ⚠
- p.Asn46Ile Single submitter ⚠
- p.Asn46Ser Single submitter ⚠
- p.Asn8Lys Single submitter ⚠
- p.Asp58Val Single submitter ⚠
- p.Gln32Arg Single submitter ⚠
- p.Gln71Arg Single submitter ⚠
- p.His24Tyr Single submitter ⚠
- p.Ile124Val Single submitter ⚠
- p.Ile86Thr Single submitter ⚠
- p.Leu144Arg Single submitter ⚠
- p.Lys85Asn Single submitter ⚠
- p.Lys85Thr Single submitter ⚠
- p.Met36Leu Single submitter ⚠
- p.Phe48Leu Single submitter ⚠
- p.Pro122His Single submitter ⚠
- p.Ser116Pro Single submitter ⚠
- p.Ser51Tyr Single submitter ⚠
- p.Ser56Arg Single submitter ⚠
- p.Ser70Gly Single submitter ⚠
- p.Ser97Arg Single submitter ⚠
- p.Thr75Met Single submitter ⚠
- p.Thr76Met Single submitter ⚠
- p.Thr83Asn Single submitter ⚠