CMIP — 127 ClinVar variants
All ClinVar germline CMIP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 81 flagged for review →
1 Conflicting · 13 Benign · 1 Benign/Likely benign · 29 Likely benign · 83 Uncertain significance
Full CMIP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 81
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, 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.
- CMIP p.Ala113Thr Uncertain significance Single submitter
- CMIP p.Ala299Thr Uncertain significance Single submitter
- CMIP p.Ala415Val Uncertain significance Single submitter
- CMIP p.Ala437Thr Uncertain significance Single submitter
- CMIP p.Ala437Val Uncertain significance Single submitter
- CMIP p.Ala449Thr Uncertain significance Single submitter
- CMIP p.Ala730Ser Uncertain significance Single submitter
-
CMIP p.Ala92Thr
Uncertain significance
Single submitter
CMIP-related disorder
- CMIP p.Ala99Val Uncertain significance Single submitter
- CMIP p.Arg14Gly Uncertain significance Single submitter
- CMIP p.Arg408Cys Uncertain significance Single submitter
- CMIP p.Asn427Ser Uncertain significance Single submitter
- CMIP p.Asn673Ser Uncertain significance Single submitter
- CMIP p.Asp450Asn Uncertain significance Single submitter
- CMIP p.Cys338Phe Uncertain significance Single submitter
- CMIP p.Cys588Trp Uncertain significance Single submitter
- CMIP p.Gln621Lys Uncertain significance Single submitter
- CMIP p.Glu289Gly Uncertain significance Single submitter
- CMIP p.Glu444Gln Uncertain significance Single submitter
- CMIP p.Glu505Lys Uncertain significance Single submitter
- CMIP p.Glu505Val Uncertain significance Single submitter
- CMIP p.Gly11Asp Uncertain significance Single submitter
- CMIP p.Gly32Ser Uncertain significance Single submitter
- CMIP p.Gly454Ser Uncertain significance Single submitter
- CMIP p.Gly521Ser Uncertain significance Single submitter
- CMIP p.Gly532Arg Uncertain significance Single submitter
- CMIP p.Gly9Ala Uncertain significance Single submitter
- CMIP p.Ile206Val Uncertain significance Single submitter
- CMIP p.Ile226Thr Uncertain significance Single submitter
- CMIP p.Ile229Val Uncertain significance Single submitter
- CMIP p.Ile605Val Uncertain significance Single submitter
- CMIP p.Leu685Arg Uncertain significance Single submitter
- CMIP p.Lys393Thr Uncertain significance Single submitter
- CMIP p.Pro507His Uncertain significance Single submitter
- CMIP p.Ser394Ala Uncertain significance Single submitter
- CMIP p.Ser7Ala Uncertain significance Single submitter
- CMIP p.Thr409Ser Uncertain significance Single submitter
- CMIP p.Thr452Arg Uncertain significance Single submitter
- CMIP p.Thr70Ser Uncertain significance Single submitter
- CMIP p.Trp84Ser Uncertain significance Single submitter
- CMIP p.Val117Ile Uncertain significance Single submitter
- CMIP p.Val177Phe Uncertain significance Single submitter
- CMIP p.Val207Ile Uncertain significance Single submitter
- CMIP p.Val27Ala Uncertain significance Single submitter
- CMIP p.Val404Glu Uncertain significance Single submitter
- CMIP p.Val404Met Uncertain significance Single submitter
- CMIP p.Val457Leu Uncertain significance Single submitter
- CMIP p.Val767Phe Uncertain significance Single submitter
-
CMIP p.Ile199Val
Uncertain significance
No assertion criteria
CMIP-related disorder
Predictors split 31
The independent predictors disagree with each other — read with care.
- CMIP p.Ala535Ser Uncertain significance Single submitter
- CMIP p.Ala544Thr Uncertain significance Single submitter
- CMIP p.Arg183Trp Uncertain significance Single submitter
- CMIP p.Arg253Trp Uncertain significance Single submitter
- CMIP p.Arg451Cys Uncertain significance Single submitter
- CMIP p.Arg502Ser Uncertain significance Single submitter
- CMIP p.Arg617His Uncertain significance Single submitter
- CMIP p.Arg634Met Uncertain significance Single submitter
- CMIP p.Asp241Gly Uncertain significance Single submitter
- CMIP p.Glu223Asp Uncertain significance Single submitter
- CMIP p.Glu680Lys Uncertain significance Single submitter
- CMIP p.Gly49Val Uncertain significance Single submitter
- CMIP p.Gly524Ser Uncertain significance Single submitter
- CMIP p.His548Tyr Uncertain significance Single submitter
- CMIP p.Leu44Ile Uncertain significance Single submitter
- CMIP p.Leu473Met Uncertain significance Single submitter
- CMIP p.Leu706Val Uncertain significance Single submitter
- CMIP p.Pro447His Uncertain significance Single submitter
- CMIP p.Pro471Leu Uncertain significance Single submitter
- CMIP p.Ser121Cys Uncertain significance Single submitter
- CMIP p.Ser382Phe Uncertain significance Single submitter
- CMIP p.Thr138Ala Uncertain significance Single submitter
- CMIP p.Thr386Met Uncertain significance Single submitter
- CMIP p.Thr417Met Uncertain significance Single submitter
- CMIP p.Thr452Met Uncertain significance Single submitter
- CMIP p.Val258Leu Uncertain significance Single submitter
- CMIP p.Val27Met Uncertain significance Single submitter
- CMIP p.Val303Leu Uncertain significance Single submitter
- CMIP p.Val395Met Uncertain significance Single submitter
-
CMIP p.Glu495Lys
Uncertain significance
No assertion criteria
CMIP-related disorder
-
CMIP p.Thr493Ser
Uncertain significance
No assertion criteria
esophageal atresia
All CMIP variants
Conflicting classifications of pathogenicity 1
- p.Val767Ile Single submitter ⚠
Benign 13
- p.Asn295= Multiple submitters
- p.Pro414= Multiple submitters
- p.Val547= Multiple submitters
- c.1388+10C>A Single submitter
- c.1388+15del Single submitter
- c.1389-4C>G Single submitter
- c.1638+4C>A Single submitter
- c.929+10C>T Single submitter
- p.Gly702= Single submitter
- p.Leu119= Single submitter
- p.Ser517= Single submitter
- p.Tyr456= Single submitter
- c.2091+5G>A No assertion criteria CMIP-related disorder
Benign/Likely benign 1
- c.2269-10C>T Multiple submitters
Likely benign 29
- c.1638+10G>A Multiple submitters
- p.Leu369= Multiple submitters
- c.1388+13_1388+15dup Single submitter
- c.1531-7C>T Single submitter
- c.1638+5G>A Single submitter
- c.2198-10del Single submitter
- c.745-10C>T Single submitter
- c.825+10C>T Single submitter
- p.Arg255= Single submitter
- p.Asn743= Single submitter
- p.Cys536= Single submitter
- p.Leu185= Single submitter
- p.Leu463= Single submitter
- p.Lys559= Single submitter
- p.Pro231= Single submitter
- p.Pro30= Single submitter
- p.Pro362= Single submitter
- p.Ser112= Single submitter
- p.Ser146= Single submitter
- p.Thr711= Single submitter
- p.Val396= Single submitter
- c.1896+8C>T No assertion criteria CMIP-related disorder
- c.2091+4C>T No assertion criteria CMIP-related disorder
- p.Arg253= No assertion criteria CMIP-related disorder
- p.Arg282= No assertion criteria CMIP-related disorder
- p.Arg322= No assertion criteria CMIP-related disorder
- p.Asp538= No assertion criteria CMIP-related disorder
- p.His681= No assertion criteria CMIP-related disorder
- p.Ser337= No assertion criteria CMIP-related disorder
Uncertain significance 83
- c.1035-1G>A Single submitter
- c.300+1del Single submitter CMIP-related disorder
- p.Ala113Thr Single submitter ⚠
- p.Ala299Thr Single submitter ⚠
- p.Ala415Val Single submitter ⚠
- p.Ala437Thr Single submitter ⚠
- p.Ala437Val Single submitter ⚠
- p.Ala449Thr Single submitter ⚠
- p.Ala535Ser Single submitter ⚠
- p.Ala544Thr Single submitter ⚠
- p.Ala730Ser Single submitter ⚠
- p.Ala92Thr Single submitter CMIP-related disorder ⚠
- p.Ala99Val Single submitter ⚠
- p.Arg149Ter Single submitter CMIP-related disorder
- p.Arg14Gly Single submitter ⚠
- p.Arg183Trp Single submitter ⚠
- p.Arg253Trp Single submitter ⚠
- p.Arg408Cys Single submitter ⚠
- p.Arg451Cys Single submitter ⚠
- p.Arg502Ser Single submitter ⚠
- p.Arg617His Single submitter ⚠
- p.Arg634Met Single submitter ⚠
- p.Asn427Ser Single submitter ⚠
- p.Asn673Ser Single submitter ⚠
- p.Asp241Gly Single submitter ⚠
- p.Asp450Asn Single submitter ⚠
- p.Cys338Phe Single submitter ⚠
- p.Cys588Trp Single submitter ⚠
- p.Gln621Lys Single submitter ⚠
- p.Glu223Asp Single submitter ⚠
- p.Glu289Gly Single submitter ⚠
- p.Glu444Gln Single submitter ⚠
- p.Glu505Lys Single submitter ⚠
- p.Glu505Val Single submitter ⚠
- p.Glu680Lys Single submitter ⚠
- p.Gly11Asp Single submitter ⚠
- p.Gly32Ser Single submitter ⚠
- p.Gly454Ser Single submitter ⚠
- p.Gly49Val Single submitter ⚠
- p.Gly521Ser Single submitter ⚠
- p.Gly524Ser Single submitter ⚠
- p.Gly532Arg Single submitter ⚠
- p.Gly9Ala Single submitter ⚠
- p.His548Tyr Single submitter ⚠
- p.Ile206Val Single submitter ⚠
- p.Ile226Thr Single submitter ⚠
- p.Ile229Val Single submitter ⚠
- p.Ile605Val Single submitter ⚠
- p.Leu44Ile Single submitter ⚠
- p.Leu473Met Single submitter ⚠
- p.Leu685Arg Single submitter ⚠
- p.Leu706Val Single submitter ⚠
- p.Lys393Thr Single submitter ⚠
- p.Pro447His Single submitter ⚠
- p.Pro471Leu Single submitter ⚠
- p.Pro507His Single submitter ⚠
- p.Ser121Cys Single submitter ⚠
- p.Ser382Phe Single submitter ⚠
- p.Ser394Ala Single submitter ⚠
- p.Ser7Ala Single submitter ⚠
- p.Thr138Ala Single submitter ⚠
- p.Thr386Met Single submitter ⚠
- p.Thr409Ser Single submitter ⚠
- p.Thr417Met Single submitter ⚠
- p.Thr452Arg Single submitter ⚠
- p.Thr452Met Single submitter ⚠
- p.Thr70Ser Single submitter ⚠
- p.Trp84Ser Single submitter ⚠
- p.Val117Ile Single submitter ⚠
- p.Val177Phe Single submitter ⚠
- p.Val207Ile Single submitter ⚠
- p.Val258Leu Single submitter ⚠
- p.Val27Ala Single submitter ⚠
- p.Val27Met Single submitter ⚠
- p.Val303Leu Single submitter ⚠
- p.Val395Met Single submitter ⚠
- p.Val404Glu Single submitter ⚠
- p.Val404Met Single submitter ⚠
- p.Val457Leu Single submitter ⚠
- p.Val767Phe Single submitter ⚠
- p.Glu495Lys No assertion criteria CMIP-related disorder ⚠
- p.Ile199Val No assertion criteria CMIP-related disorder ⚠
- p.Thr493Ser No assertion criteria esophageal atresia ⚠