CACUL1 — 44 ClinVar variants
All ClinVar germline CACUL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
1 Likely pathogenic · 1 Likely benign · 42 Uncertain significance
Full CACUL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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 26
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CACUL1 p.Ala103Thr Uncertain significance Single submitter
- CACUL1 p.Ala106Thr Uncertain significance Single submitter
- CACUL1 p.Ala28Gly Uncertain significance Single submitter
- CACUL1 p.Ala62Glu Uncertain significance Single submitter
- CACUL1 p.Ala84Asp Uncertain significance Single submitter
- CACUL1 p.Asp95His Uncertain significance Single submitter
- CACUL1 p.Glu334Asp Uncertain significance Single submitter
- CACUL1 p.Gly69Ser Uncertain significance Single submitter
- CACUL1 p.Ile144Leu Uncertain significance Single submitter
- CACUL1 p.Ile212Val Uncertain significance Single submitter
- CACUL1 p.Ile224Thr Uncertain significance Single submitter
- CACUL1 p.Ile249Val Uncertain significance Single submitter
- CACUL1 p.Ile336Thr Uncertain significance Single submitter
- CACUL1 p.Lys102Glu Uncertain significance Single submitter
- CACUL1 p.Lys196Glu Uncertain significance Single submitter
- CACUL1 p.Met76Val Uncertain significance Single submitter
- CACUL1 p.Met89Val Uncertain significance Single submitter
- CACUL1 p.Met90Leu Uncertain significance Single submitter
- CACUL1 p.Phe32Cys Uncertain significance Single submitter
- CACUL1 p.Pro138Arg Uncertain significance Single submitter
- CACUL1 p.Pro35Leu Uncertain significance Single submitter
- CACUL1 p.Pro78Leu Uncertain significance Single submitter
- CACUL1 p.Pro81Ser Uncertain significance Single submitter
- CACUL1 p.Thr274Ile Uncertain significance Single submitter
- CACUL1 p.Val171Ile Uncertain significance Single submitter
- CACUL1 p.Val60Leu Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- CACUL1 p.Asp19Asn Uncertain significance Single submitter
- CACUL1 p.Glu8Val Uncertain significance Single submitter
- CACUL1 p.Glu9Lys Uncertain significance Single submitter
- CACUL1 p.His22Arg Uncertain significance Single submitter
- CACUL1 p.His255Arg Uncertain significance Single submitter
- CACUL1 p.Leu36Val Uncertain significance Single submitter
- CACUL1 p.Lys250Met Uncertain significance Single submitter
- CACUL1 p.Met17Ile Uncertain significance Single submitter
- CACUL1 p.Pro152Ser Uncertain significance Single submitter
- CACUL1 p.Pro40Gln Uncertain significance Single submitter
- CACUL1 p.Pro41Arg Uncertain significance Single submitter
- CACUL1 p.Ser110Arg Uncertain significance Single submitter
- CACUL1 p.Ser151Arg Uncertain significance Single submitter
- CACUL1 p.Ser359Leu Uncertain significance Single submitter
- CACUL1 p.Val63Ile Uncertain significance Single submitter
- CACUL1 p.Val63Phe Uncertain significance Single submitter
All CACUL1 variants
Likely pathogenic 1
- p.Leu304fs No assertion criteria Flexion contracture
Likely benign 1
- p.Ile236= Single submitter
Uncertain significance 42
- p.Ala103Thr Single submitter ⚠
- p.Ala106Thr Single submitter ⚠
- p.Ala28Gly Single submitter ⚠
- p.Ala62Glu Single submitter ⚠
- p.Ala84Asp Single submitter ⚠
- p.Asp19Asn Single submitter ⚠
- p.Asp95His Single submitter ⚠
- p.Glu334Asp Single submitter ⚠
- p.Glu8Val Single submitter ⚠
- p.Glu9Lys Single submitter ⚠
- p.Gly69Ser Single submitter ⚠
- p.His22Arg Single submitter ⚠
- p.His255Arg Single submitter ⚠
- p.Ile144Leu Single submitter ⚠
- p.Ile212Val Single submitter ⚠
- p.Ile224Thr Single submitter ⚠
- p.Ile249Val Single submitter ⚠
- p.Ile336Thr Single submitter ⚠
- p.Leu36Val Single submitter ⚠
- p.Lys102Glu Single submitter ⚠
- p.Lys196Glu Single submitter ⚠
- p.Lys250Met Single submitter ⚠
- p.Met17Ile Single submitter ⚠
- p.Met76Val Single submitter ⚠
- p.Met89Val Single submitter ⚠
- p.Met90Leu Single submitter ⚠
- p.Phe32Cys Single submitter ⚠
- p.Pro138Arg Single submitter ⚠
- p.Pro152Ser Single submitter ⚠
- p.Pro35Leu Single submitter ⚠
- p.Pro40Gln Single submitter ⚠
- p.Pro41Arg Single submitter ⚠
- p.Pro78Leu Single submitter ⚠
- p.Pro81Ser Single submitter ⚠
- p.Ser110Arg Single submitter ⚠
- p.Ser151Arg Single submitter ⚠
- p.Ser359Leu Single submitter ⚠
- p.Thr274Ile Single submitter ⚠
- p.Val171Ile Single submitter ⚠
- p.Val60Leu Single submitter ⚠
- p.Val63Ile Single submitter ⚠
- p.Val63Phe Single submitter ⚠