CIMAP1C — 53 ClinVar variants
All ClinVar germline CIMAP1C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 51 flagged for review →
2 Likely benign · 51 Uncertain significance
Full CIMAP1C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 51
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 39
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CIMAP1C p.Ala14Glu Uncertain significance Single submitter
- CIMAP1C p.Ala226Pro Uncertain significance Single submitter
- CIMAP1C p.Ala66Asp Uncertain significance Single submitter
- CIMAP1C p.Ala66Thr Uncertain significance Single submitter
- CIMAP1C p.Arg110His Uncertain significance Single submitter
- CIMAP1C p.Arg136His Uncertain significance Single submitter
- CIMAP1C p.Arg147His Uncertain significance Single submitter
- CIMAP1C p.Arg215Cys Uncertain significance Single submitter
- CIMAP1C p.Arg215Ser Uncertain significance Single submitter
- CIMAP1C p.Arg273Cys Uncertain significance Single submitter
- CIMAP1C p.Arg48Gln Uncertain significance Single submitter
- CIMAP1C p.Arg77Gln Uncertain significance Single submitter
- CIMAP1C p.Asn113Ser Uncertain significance Single submitter
- CIMAP1C p.Asn159Ser Uncertain significance Single submitter
- CIMAP1C p.Asp271Asn Uncertain significance Single submitter
- CIMAP1C p.Gln104Lys Uncertain significance Single submitter
- CIMAP1C p.Gln140Arg Uncertain significance Single submitter
- CIMAP1C p.Glu241Lys Uncertain significance Single submitter
- CIMAP1C p.Gly238Ser Uncertain significance Single submitter
- CIMAP1C p.His81Arg Uncertain significance Single submitter
- CIMAP1C p.Ile111Val Uncertain significance Single submitter
- CIMAP1C p.Ile272Met Uncertain significance Single submitter
- CIMAP1C p.Ile59Leu Uncertain significance Single submitter
- CIMAP1C p.Met35Lys Uncertain significance Single submitter
- CIMAP1C p.Pro103Leu Uncertain significance Single submitter
- CIMAP1C p.Pro133Leu Uncertain significance Single submitter
- CIMAP1C p.Pro169Leu Uncertain significance Single submitter
- CIMAP1C p.Pro250Thr Uncertain significance Single submitter
- CIMAP1C p.Pro253Ser Uncertain significance Single submitter
- CIMAP1C p.Ser24Leu Uncertain significance Single submitter
- CIMAP1C p.Ser262Leu Uncertain significance Single submitter
- CIMAP1C p.Thr202Ser Uncertain significance Single submitter
- CIMAP1C p.Tyr126Asn Uncertain significance Single submitter
- CIMAP1C p.Tyr126Asp Uncertain significance Single submitter
- CIMAP1C p.Tyr212Phe Uncertain significance Single submitter
- CIMAP1C p.Tyr67His Uncertain significance Single submitter
- CIMAP1C p.Tyr67Phe Uncertain significance Single submitter
- CIMAP1C p.Val195Ala Uncertain significance Single submitter
- CIMAP1C p.Val247Met Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- CIMAP1C p.Arg146Trp Uncertain significance Single submitter
- CIMAP1C p.Arg224Cys Uncertain significance Single submitter
- CIMAP1C p.Arg224Gly Uncertain significance Single submitter
- CIMAP1C p.Arg224His Uncertain significance Single submitter
- CIMAP1C p.Arg96Gln Uncertain significance Single submitter
- CIMAP1C p.Asp230Asn Uncertain significance Single submitter
- CIMAP1C p.Pro139Leu Uncertain significance Single submitter
- CIMAP1C p.Pro156Leu Uncertain significance Single submitter
- CIMAP1C p.Pro237Ala Uncertain significance Single submitter
- CIMAP1C p.Ser220Asn Uncertain significance Single submitter
- CIMAP1C p.Thr142Met Uncertain significance Single submitter
- CIMAP1C p.Tyr180Cys Uncertain significance Single submitter
All CIMAP1C variants
Likely benign 2
- p.Met163Leu Single submitter
- p.Thr203Met Single submitter
Uncertain significance 51
- p.Ala14Glu Single submitter ⚠
- p.Ala226Pro Single submitter ⚠
- p.Ala66Asp Single submitter ⚠
- p.Ala66Thr Single submitter ⚠
- p.Arg110His Single submitter ⚠
- p.Arg136His Single submitter ⚠
- p.Arg146Trp Single submitter ⚠
- p.Arg147His Single submitter ⚠
- p.Arg215Cys Single submitter ⚠
- p.Arg215Ser Single submitter ⚠
- p.Arg224Cys Single submitter ⚠
- p.Arg224Gly Single submitter ⚠
- p.Arg224His Single submitter ⚠
- p.Arg273Cys Single submitter ⚠
- p.Arg48Gln Single submitter ⚠
- p.Arg77Gln Single submitter ⚠
- p.Arg96Gln Single submitter ⚠
- p.Asn113Ser Single submitter ⚠
- p.Asn159Ser Single submitter ⚠
- p.Asp230Asn Single submitter ⚠
- p.Asp271Asn Single submitter ⚠
- p.Gln104Lys Single submitter ⚠
- p.Gln140Arg Single submitter ⚠
- p.Glu241Lys Single submitter ⚠
- p.Gly238Ser Single submitter ⚠
- p.His81Arg Single submitter ⚠
- p.Ile111Val Single submitter ⚠
- p.Ile272Met Single submitter ⚠
- p.Ile59Leu Single submitter ⚠
- p.Met35Lys Single submitter ⚠
- p.Pro103Leu Single submitter ⚠
- p.Pro133Leu Single submitter ⚠
- p.Pro139Leu Single submitter ⚠
- p.Pro156Leu Single submitter ⚠
- p.Pro169Leu Single submitter ⚠
- p.Pro237Ala Single submitter ⚠
- p.Pro250Thr Single submitter ⚠
- p.Pro253Ser Single submitter ⚠
- p.Ser220Asn Single submitter ⚠
- p.Ser24Leu Single submitter ⚠
- p.Ser262Leu Single submitter ⚠
- p.Thr142Met Single submitter ⚠
- p.Thr202Ser Single submitter ⚠
- p.Tyr126Asn Single submitter ⚠
- p.Tyr126Asp Single submitter ⚠
- p.Tyr180Cys Single submitter ⚠
- p.Tyr212Phe Single submitter ⚠
- p.Tyr67His Single submitter ⚠
- p.Tyr67Phe Single submitter ⚠
- p.Val195Ala Single submitter ⚠
- p.Val247Met Single submitter ⚠