CIMAP1D — 71 ClinVar variants
All ClinVar germline CIMAP1D variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →
3 Likely benign · 68 Uncertain significance
Full CIMAP1D gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 67
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 49
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CIMAP1D p.Ala255Ser Uncertain significance Single submitter
- CIMAP1D p.Ala66Thr Uncertain significance Single submitter
- CIMAP1D p.Arg11Gln Uncertain significance Single submitter
- CIMAP1D p.Arg11Trp Uncertain significance Single submitter
- CIMAP1D p.Arg136His Uncertain significance Single submitter
- CIMAP1D p.Arg138Trp Uncertain significance Single submitter
- CIMAP1D p.Arg148His Uncertain significance Single submitter
- CIMAP1D p.Arg193His Uncertain significance Single submitter
- CIMAP1D p.Arg19Trp Uncertain significance Single submitter
- CIMAP1D p.Arg216Cys Uncertain significance Single submitter
- CIMAP1D p.Arg216His Uncertain significance Single submitter
- CIMAP1D p.Arg229Trp Uncertain significance Single submitter
- CIMAP1D p.Arg232Gln Uncertain significance Single submitter
- CIMAP1D p.Arg267Gln Uncertain significance Single submitter
- CIMAP1D p.Arg278Gly Uncertain significance Single submitter
- CIMAP1D p.Arg74Pro Uncertain significance Single submitter
- CIMAP1D p.Arg98Gly Uncertain significance Single submitter
- CIMAP1D p.Asp197His Uncertain significance Single submitter
- CIMAP1D p.Glu78Lys Uncertain significance Single submitter
- CIMAP1D p.Gly125Arg Uncertain significance Single submitter
- CIMAP1D p.Gly205Ser Uncertain significance Single submitter
- CIMAP1D p.Gly261Val Uncertain significance Single submitter
- CIMAP1D p.Gly30Arg Uncertain significance Single submitter
- CIMAP1D p.Gly30Ser Uncertain significance Single submitter
- CIMAP1D p.His264Arg Uncertain significance Single submitter
- CIMAP1D p.Ile201Leu Uncertain significance Single submitter
- CIMAP1D p.Ile26Thr Uncertain significance Single submitter
- CIMAP1D p.Leu154Met Uncertain significance Single submitter
- CIMAP1D p.Leu284Arg Uncertain significance Single submitter
- CIMAP1D p.Met260Ile Uncertain significance Single submitter
- CIMAP1D p.Pro140Leu Uncertain significance Single submitter
- CIMAP1D p.Pro168His Uncertain significance Single submitter
- CIMAP1D p.Pro16His Uncertain significance Single submitter
- CIMAP1D p.Pro190Ala Uncertain significance Single submitter
- CIMAP1D p.Pro190Leu Uncertain significance Single submitter
- CIMAP1D p.Pro191Ala Uncertain significance Single submitter
- CIMAP1D p.Pro191Arg Uncertain significance Single submitter
- CIMAP1D p.Pro191Ser Uncertain significance Single submitter
- CIMAP1D p.Pro228Ser Uncertain significance Single submitter
- CIMAP1D p.Pro231Leu Uncertain significance Single submitter
- CIMAP1D p.Pro233Ala Uncertain significance Single submitter
- CIMAP1D p.Ser265Leu Uncertain significance Single submitter
- CIMAP1D p.Ser265Trp Uncertain significance Single submitter
- CIMAP1D p.Ser269Asn Uncertain significance Single submitter
- CIMAP1D p.Ser77Asn Uncertain significance Single submitter
- CIMAP1D p.Thr121Met Uncertain significance Single submitter
- CIMAP1D p.Thr22Met Uncertain significance Single submitter
- CIMAP1D p.Val250Met Uncertain significance Single submitter
- CIMAP1D p.Val55Met Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- CIMAP1D p.Arg101Cys Uncertain significance Single submitter
- CIMAP1D p.Arg148Cys Uncertain significance Single submitter
- CIMAP1D p.Arg188Leu Uncertain significance Single submitter
- CIMAP1D p.Arg218Cys Uncertain significance Single submitter
- CIMAP1D p.Arg227Gln Uncertain significance Single submitter
- CIMAP1D p.Arg227Trp Uncertain significance Single submitter
- CIMAP1D p.Arg64Thr Uncertain significance Single submitter
- CIMAP1D p.Arg98Cys Uncertain significance Single submitter
- CIMAP1D p.Gly171Ser Uncertain significance Single submitter
- CIMAP1D p.Gly239Ser Uncertain significance Single submitter
- CIMAP1D p.Pro141Leu Uncertain significance Single submitter
- CIMAP1D p.Pro204Leu Uncertain significance Single submitter
- CIMAP1D p.Pro86Ser Uncertain significance Single submitter
- CIMAP1D p.Ser71Leu Uncertain significance Single submitter
- CIMAP1D p.Thr144Asn Uncertain significance Single submitter
- CIMAP1D p.Thr184Met Uncertain significance Single submitter
- CIMAP1D p.Thr223Ala Uncertain significance Single submitter
- CIMAP1D p.Thr54Ile Uncertain significance Single submitter
All CIMAP1D variants
Likely benign 3
- p.Ala192Thr Single submitter
- p.Ala69= Single submitter
- p.Thr274Ala Single submitter
Uncertain significance 68
- p.Ala255Ser Single submitter ⚠
- p.Ala66Thr Single submitter ⚠
- p.Arg101Cys Single submitter ⚠
- p.Arg11Gln Single submitter ⚠
- p.Arg11Trp Single submitter ⚠
- p.Arg136His Single submitter ⚠
- p.Arg138Trp Single submitter ⚠
- p.Arg148Cys Single submitter ⚠
- p.Arg148His Single submitter ⚠
- p.Arg188Leu Single submitter ⚠
- p.Arg193His Single submitter ⚠
- p.Arg19Trp Single submitter ⚠
- p.Arg216Cys Single submitter ⚠
- p.Arg216His Single submitter ⚠
- p.Arg218Cys Single submitter ⚠
- p.Arg227Gln Single submitter ⚠
- p.Arg227Trp Single submitter ⚠
- p.Arg229Trp Single submitter ⚠
- p.Arg232Gln Single submitter ⚠
- p.Arg267Gln Single submitter ⚠
- p.Arg278Gly Single submitter ⚠
- p.Arg64Thr Single submitter ⚠
- p.Arg74Pro Single submitter ⚠
- p.Arg98Cys Single submitter ⚠
- p.Arg98Gly Single submitter ⚠
- p.Asp197His Single submitter ⚠
- p.Glu78Lys Single submitter ⚠
- p.Gly125Arg Single submitter ⚠
- p.Gly171Ser Single submitter ⚠
- p.Gly205Ser Single submitter ⚠
- p.Gly239Ser Single submitter ⚠
- p.Gly261Val Single submitter ⚠
- p.Gly30Arg Single submitter ⚠
- p.Gly30Ser Single submitter ⚠
- p.His264Arg Single submitter ⚠
- p.Ile201Leu Single submitter ⚠
- p.Ile26Thr Single submitter ⚠
- p.Leu154Met Single submitter ⚠
- p.Leu284Arg Single submitter ⚠
- p.Met260Ile Single submitter ⚠
- p.Pro140Leu Single submitter ⚠
- p.Pro141Leu Single submitter ⚠
- p.Pro168His Single submitter ⚠
- p.Pro16His Single submitter ⚠
- p.Pro190Ala Single submitter ⚠
- p.Pro190Leu Single submitter ⚠
- p.Pro191Ala Single submitter ⚠
- p.Pro191Arg Single submitter ⚠
- p.Pro191Ser Single submitter ⚠
- p.Pro204Leu Single submitter ⚠
- p.Pro220Ser Single submitter
- p.Pro228Ser Single submitter ⚠
- p.Pro231Leu Single submitter ⚠
- p.Pro233Ala Single submitter ⚠
- p.Pro86Ser Single submitter ⚠
- p.Ser265Leu Single submitter ⚠
- p.Ser265Trp Single submitter ⚠
- p.Ser269Asn Single submitter ⚠
- p.Ser71Leu Single submitter ⚠
- p.Ser77Asn Single submitter ⚠
- p.Thr121Met Single submitter ⚠
- p.Thr144Asn Single submitter ⚠
- p.Thr184Met Single submitter ⚠
- p.Thr223Ala Single submitter ⚠
- p.Thr22Met Single submitter ⚠
- p.Thr54Ile Single submitter ⚠
- p.Val250Met Single submitter ⚠
- p.Val55Met Single submitter ⚠