CIMIP2A — 105 ClinVar variants

All ClinVar germline CIMIP2A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 91 flagged for review →

1 Benign · 8 Likely benign · 96 Uncertain significance

Full CIMIP2A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 91

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 86

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 5

The independent predictors disagree with each other — read with care.

All CIMIP2A variants

Benign 1

p.Thr82Met Single submitter

Likely benign 8

p.Ala163Thr Single submitter
p.Arg188His Single submitter
p.Arg304Lys Single submitter
p.Arg75= Single submitter
p.Asp8Asn Single submitter
p.His315Gln Single submitter
p.Pro138Leu Single submitter
p.Thr3Ala Single submitter

Uncertain significance 96

p.Ala187Pro Single submitter ⚠
p.Ala215Val Single submitter ⚠
p.Ala241Val Single submitter ⚠
p.Ala311Thr Single submitter ⚠
p.Arg188Cys Single submitter ⚠
p.Arg189Cys Single submitter ⚠
p.Arg189His Single submitter ⚠
p.Arg201Trp Single submitter ⚠
p.Arg213Cys Single submitter ⚠
p.Arg225Cys Single submitter ⚠
p.Arg225His Single submitter ⚠
p.Arg235Gln Single submitter ⚠
p.Arg28His Single submitter ⚠
p.Arg303Gly Single submitter ⚠
p.Arg303Trp Single submitter
p.Arg304Met Single submitter ⚠
p.Arg313Gln Single submitter ⚠
p.Arg37His Single submitter ⚠
p.Asn271Asp Single submitter ⚠
p.Asn300Ser Single submitter ⚠
p.Asp133Asn Single submitter ⚠
p.Asp146His Single submitter ⚠
p.Asp195His Single submitter ⚠
p.Asp243Gly Single submitter ⚠
p.Asp246Asn Single submitter ⚠
p.Cys257Arg Single submitter ⚠
p.Cys53Ser Single submitter ⚠
p.Cys78Tyr Single submitter ⚠
p.Gln172Leu Single submitter ⚠
p.Gln174Arg Single submitter ⚠
p.Gln26Arg Single submitter
p.Gln49Pro Single submitter ⚠
p.Glu168Gln Single submitter ⚠
p.Glu168Lys Single submitter ⚠
p.Glu244Lys Single submitter ⚠
p.Glu99Gln Single submitter ⚠
p.Gly102Ser Single submitter ⚠
p.Gly142Arg Single submitter ⚠
p.Gly142Ser Single submitter ⚠
p.Gly22Asp Single submitter ⚠
p.Gly22Ser Single submitter ⚠
p.Gly237Ser Single submitter ⚠
p.His15Arg Single submitter ⚠
p.His177Arg Single submitter ⚠
p.His256Arg Single submitter ⚠
p.His256Pro Single submitter ⚠
p.His88Arg Single submitter ⚠
p.Ile216Val Single submitter ⚠
p.Ile273Ser Single submitter ⚠
p.Ile273Val Single submitter ⚠
p.Leu125Met Single submitter ⚠
p.Leu317Pro Single submitter ⚠
p.Leu92Pro Single submitter ⚠
p.Leu9Phe Single submitter ⚠
p.Lys144Gln Single submitter ⚠
p.Lys247Arg Single submitter ⚠
p.Lys247Asn Single submitter ⚠
p.Lys63Asn Single submitter ⚠
p.Lys93Arg Single submitter ⚠
p.Met239Val Single submitter ⚠
p.Met242Val Single submitter ⚠
p.Met284Val Single submitter ⚠
p.Met290Leu Single submitter ⚠
p.Phe286Leu Single submitter ⚠
p.Phe98Ser Single submitter ⚠
p.Pro106Thr Single submitter ⚠
p.Pro114Leu Single submitter ⚠
p.Pro127Leu Single submitter ⚠
p.Pro12Leu Single submitter ⚠
p.Pro135Leu Single submitter ⚠
p.Pro137Ala Single submitter ⚠
p.Pro137Leu Single submitter ⚠
p.Pro140Ser Single submitter ⚠
p.Pro165Ser Single submitter ⚠
p.Pro185Leu Single submitter ⚠
p.Pro185Ser Single submitter ⚠
p.Pro18Ser Single submitter ⚠
p.Pro203Leu Single submitter
p.Pro208Thr Single submitter ⚠
p.Pro25Leu Single submitter ⚠
p.Pro269Leu Single submitter
p.Pro288Leu Single submitter ⚠
p.Pro62Leu Single submitter ⚠
p.Pro62Ser Single submitter ⚠
p.Pro74Leu Single submitter ⚠
p.Ser217Leu Single submitter ⚠
p.Ser95Cys Single submitter ⚠
p.Thr164Ser Single submitter ⚠
p.Thr193Met Single submitter ⚠
p.Thr2Lys Single submitter ⚠
p.Thr39Met Single submitter ⚠
p.Thr90Ala Single submitter ⚠
p.Trp310Ser Single submitter ⚠
p.Tyr35His Single submitter ⚠
p.Val238Ile Single submitter ⚠
p.Val31Glu Single submitter