CPM — 47 ClinVar variants
All ClinVar germline CPM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →
2 Likely benign · 45 Uncertain significance
Full CPM gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 45
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.
- CPM p.Ala209Ser Uncertain significance Single submitter
- CPM p.Arg213Gln Uncertain significance Single submitter
- CPM p.Arg289Gly Uncertain significance Single submitter
- CPM p.Arg289His Uncertain significance Single submitter
- CPM p.Asn299Ser Uncertain significance Single submitter
- CPM p.Asn300Lys Uncertain significance Single submitter
- CPM p.Gly191Val Uncertain significance Single submitter
- CPM p.Gly317Asp Uncertain significance Single submitter
- CPM p.Gly317Val Uncertain significance Single submitter
- CPM p.His339Arg Uncertain significance Single submitter
- CPM p.His339Tyr Uncertain significance Single submitter
- CPM p.Ile373Val Uncertain significance Single submitter
- CPM p.Ile71Thr Uncertain significance Single submitter
- CPM p.Leu210Ser Uncertain significance Single submitter
- CPM p.Lys53Glu Uncertain significance Single submitter
- CPM p.Met412Val Uncertain significance Single submitter
- CPM p.Pro127Leu Uncertain significance Single submitter
- CPM p.Pro411Ser Uncertain significance Single submitter
- CPM p.Ser257Thr Uncertain significance Single submitter
- CPM p.Ser283Leu Uncertain significance Single submitter
- CPM p.Ser429Thr Uncertain significance Single submitter
- CPM p.Thr279Ser Uncertain significance Single submitter
- CPM p.Thr426Ala Uncertain significance Single submitter
- CPM p.Val35Ile Uncertain significance Single submitter
- CPM p.Val79Ala Uncertain significance Single submitter
-
CPM p.Gly251Ala
Uncertain significance
No assertion criteria
autism
Predictors split 19
The independent predictors disagree with each other — read with care.
- CPM p.Ala36Thr Uncertain significance Single submitter
- CPM p.Arg118Gln Uncertain significance Single submitter
- CPM p.Arg289Cys Uncertain significance Single submitter
- CPM p.Asp107Gly Uncertain significance Single submitter
- CPM p.Asp107Tyr Uncertain significance Single submitter
- CPM p.Asp19Asn Uncertain significance Single submitter
- CPM p.His95Arg Uncertain significance Single submitter
- CPM p.Leu189Phe Uncertain significance Single submitter
- CPM p.Leu393Pro Uncertain significance Single submitter
- CPM p.Pro217Thr Uncertain significance Single submitter
- CPM p.Thr102Ile Uncertain significance Single submitter
- CPM p.Tyr150Cys Uncertain significance Single submitter
- CPM p.Tyr99Cys Uncertain significance Single submitter
- CPM p.Val101Ile Uncertain significance Single submitter
- CPM p.Val184Ile Uncertain significance Single submitter
- CPM p.Val311Ala Uncertain significance Single submitter
- CPM p.Val35Ala Uncertain significance Single submitter
- CPM p.Val79Met Uncertain significance Single submitter
- CPM p.Val88Ala Uncertain significance Single submitter
All CPM variants
Likely benign 2
- p.Asn299Asp Single submitter
- p.Glu241Gln Single submitter
Uncertain significance 45
- p.Ala209Ser Single submitter ⚠
- p.Ala36Thr Single submitter ⚠
- p.Arg118Gln Single submitter ⚠
- p.Arg213Gln Single submitter ⚠
- p.Arg289Cys Single submitter ⚠
- p.Arg289Gly Single submitter ⚠
- p.Arg289His Single submitter ⚠
- p.Asn299Ser Single submitter ⚠
- p.Asn300Lys Single submitter ⚠
- p.Asp107Gly Single submitter ⚠
- p.Asp107Tyr Single submitter ⚠
- p.Asp19Asn Single submitter ⚠
- p.Gly191Val Single submitter ⚠
- p.Gly317Asp Single submitter ⚠
- p.Gly317Val Single submitter ⚠
- p.His339Arg Single submitter ⚠
- p.His339Tyr Single submitter ⚠
- p.His95Arg Single submitter ⚠
- p.Ile373Val Single submitter ⚠
- p.Ile71Thr Single submitter ⚠
- p.Leu189Phe Single submitter ⚠
- p.Leu210Ser Single submitter ⚠
- p.Leu393Pro Single submitter ⚠
- p.Lys53Glu Single submitter ⚠
- p.Met412Val Single submitter ⚠
- p.Pro127Leu Single submitter ⚠
- p.Pro217Thr Single submitter ⚠
- p.Pro411Ser Single submitter ⚠
- p.Ser257Thr Single submitter ⚠
- p.Ser283Leu Single submitter ⚠
- p.Ser429Thr Single submitter ⚠
- p.Thr102Ile Single submitter ⚠
- p.Thr279Ser Single submitter ⚠
- p.Thr426Ala Single submitter ⚠
- p.Tyr150Cys Single submitter ⚠
- p.Tyr99Cys Single submitter ⚠
- p.Val101Ile Single submitter ⚠
- p.Val184Ile Single submitter ⚠
- p.Val311Ala Single submitter ⚠
- p.Val35Ala Single submitter ⚠
- p.Val35Ile Single submitter ⚠
- p.Val79Ala Single submitter ⚠
- p.Val79Met Single submitter ⚠
- p.Val88Ala Single submitter ⚠
- p.Gly251Ala No assertion criteria autism ⚠