CIMAP1A — 47 ClinVar variants
All ClinVar germline CIMAP1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 43 flagged for review →
4 Likely benign · 43 Uncertain significance
Full CIMAP1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 43
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CIMAP1A p.Ala156Thr Uncertain significance Single submitter
- CIMAP1A p.Arg127Trp Uncertain significance Single submitter
- CIMAP1A p.Arg186Cys Uncertain significance Single submitter
- CIMAP1A p.Arg191Trp Uncertain significance Single submitter
- CIMAP1A p.Arg205Pro Uncertain significance Single submitter
- CIMAP1A p.Arg92Ser Uncertain significance Single submitter
- CIMAP1A p.Asp117Asn Uncertain significance Single submitter
- CIMAP1A p.Asp174Asn Uncertain significance Single submitter
- CIMAP1A p.Glu254Gly Uncertain significance Single submitter
- CIMAP1A p.Gly154Ser Uncertain significance Single submitter
- CIMAP1A p.Gly239Ser Uncertain significance Single submitter
- CIMAP1A p.Gly55Arg Uncertain significance Single submitter
- CIMAP1A p.His177Gln Uncertain significance Single submitter
- CIMAP1A p.Ile124Phe Uncertain significance Single submitter
- CIMAP1A p.Leu31Val Uncertain significance Single submitter
- CIMAP1A p.Leu99Gln Uncertain significance Single submitter
- CIMAP1A p.Lys164Asn Uncertain significance Single submitter
- CIMAP1A p.Met148Ile Uncertain significance Single submitter
- CIMAP1A p.Pro137Thr Uncertain significance Single submitter
- CIMAP1A p.Pro139Leu Uncertain significance Single submitter
- CIMAP1A p.Ser135Gly Uncertain significance Single submitter
- CIMAP1A p.Val115Met Uncertain significance Single submitter
Predictors split 21
The independent predictors disagree with each other — read with care.
- CIMAP1A p.Ala203Asp Uncertain significance Single submitter
- CIMAP1A p.Arg14His Uncertain significance Single submitter
- CIMAP1A p.Arg166His Uncertain significance Single submitter
- CIMAP1A p.Arg47His Uncertain significance Single submitter
- CIMAP1A p.Asn63Lys Uncertain significance Single submitter
- CIMAP1A p.Asn71Lys Uncertain significance Single submitter
- CIMAP1A p.Asp175Asn Uncertain significance Single submitter
- CIMAP1A p.Asp244Gly Uncertain significance Single submitter
- CIMAP1A p.Glu3Lys Uncertain significance Single submitter
- CIMAP1A p.Gly17Arg Uncertain significance Single submitter
- CIMAP1A p.Ile19Met Uncertain significance Single submitter
- CIMAP1A p.Leu77Arg Uncertain significance Single submitter
- CIMAP1A p.Phe116Leu Uncertain significance Single submitter
- CIMAP1A p.Phe161Leu Uncertain significance Single submitter
- CIMAP1A p.Pro208Ser Uncertain significance Single submitter
- CIMAP1A p.Pro74Ser Uncertain significance Single submitter
- CIMAP1A p.Pro85Ser Uncertain significance Single submitter
- CIMAP1A p.Ser167Arg Uncertain significance Single submitter
- CIMAP1A p.Thr2Met Uncertain significance Single submitter
- CIMAP1A p.Tyr23Cys Uncertain significance Single submitter
- CIMAP1A p.Val251Ala Uncertain significance Single submitter
All CIMAP1A variants
Likely benign 4
- p.Ala130Thr Single submitter
- p.Gly165= Single submitter
- p.Gly171Ser Single submitter
- p.Met146Val Single submitter
Uncertain significance 43
- p.Ala156Thr Single submitter ⚠
- p.Ala203Asp Single submitter ⚠
- p.Arg127Trp Single submitter ⚠
- p.Arg14His Single submitter ⚠
- p.Arg166His Single submitter ⚠
- p.Arg186Cys Single submitter ⚠
- p.Arg191Trp Single submitter ⚠
- p.Arg205Pro Single submitter ⚠
- p.Arg47His Single submitter ⚠
- p.Arg92Ser Single submitter ⚠
- p.Asn63Lys Single submitter ⚠
- p.Asn71Lys Single submitter ⚠
- p.Asp117Asn Single submitter ⚠
- p.Asp174Asn Single submitter ⚠
- p.Asp175Asn Single submitter ⚠
- p.Asp244Gly Single submitter ⚠
- p.Glu254Gly Single submitter ⚠
- p.Glu3Lys Single submitter ⚠
- p.Gly154Ser Single submitter ⚠
- p.Gly17Arg Single submitter ⚠
- p.Gly239Ser Single submitter ⚠
- p.Gly55Arg Single submitter ⚠
- p.His177Gln Single submitter ⚠
- p.Ile124Phe Single submitter ⚠
- p.Ile19Met Single submitter ⚠
- p.Leu31Val Single submitter ⚠
- p.Leu77Arg Single submitter ⚠
- p.Leu99Gln Single submitter ⚠
- p.Lys164Asn Single submitter ⚠
- p.Met148Ile Single submitter ⚠
- p.Phe116Leu Single submitter ⚠
- p.Phe161Leu Single submitter ⚠
- p.Pro137Thr Single submitter ⚠
- p.Pro139Leu Single submitter ⚠
- p.Pro208Ser Single submitter ⚠
- p.Pro74Ser Single submitter ⚠
- p.Pro85Ser Single submitter ⚠
- p.Ser135Gly Single submitter ⚠
- p.Ser167Arg Single submitter ⚠
- p.Thr2Met Single submitter ⚠
- p.Tyr23Cys Single submitter ⚠
- p.Val115Met Single submitter ⚠
- p.Val251Ala Single submitter ⚠