IMMT — 95 ClinVar variants
All ClinVar germline IMMT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →
5 Benign · 8 Likely benign · 82 Uncertain significance
Full IMMT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 73
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 62
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- IMMT p.Ala227Gly Uncertain significance Single submitter
- IMMT p.Ala347Thr Uncertain significance Single submitter
- IMMT p.Ala444Val Uncertain significance Single submitter
- IMMT p.Ala462Val Uncertain significance Single submitter
- IMMT p.Ala487Thr Uncertain significance Single submitter
- IMMT p.Ala4Ser Uncertain significance Single submitter
- IMMT p.Ala611Thr Uncertain significance Single submitter
- IMMT p.Ala633Ser Uncertain significance Single submitter
- IMMT p.Ala94Thr Uncertain significance Single submitter
- IMMT p.Arg205Cys Uncertain significance Single submitter
- IMMT p.Arg205His Uncertain significance Single submitter
- IMMT p.Arg443Gln Uncertain significance Single submitter
- IMMT p.Arg484His Uncertain significance Single submitter
- IMMT p.Arg564Lys Uncertain significance Single submitter
- IMMT p.Arg634Gly Uncertain significance Single submitter
- IMMT p.Arg634His Uncertain significance Single submitter
- IMMT p.Asn250Ser Uncertain significance Single submitter
- IMMT p.Asn96Asp Uncertain significance Single submitter
- IMMT p.Asp134His Uncertain significance Single submitter
- IMMT p.Asp293Asn Uncertain significance Single submitter
- IMMT p.Asp684Gly Uncertain significance Single submitter
- IMMT p.Cys603Phe Uncertain significance Single submitter
- IMMT p.Gln273Glu Uncertain significance Single submitter
- IMMT p.Gln428Glu Uncertain significance Single submitter
- IMMT p.Gln610Glu Uncertain significance Single submitter
- IMMT p.Gln6Leu Uncertain significance Single submitter
- IMMT p.Gln736Glu Uncertain significance Single submitter
- IMMT p.Glu116Asp Uncertain significance Single submitter
- IMMT p.Glu167Lys Uncertain significance Single submitter
- IMMT p.Glu188Ala Uncertain significance Single submitter
- IMMT p.Glu470Val Uncertain significance Single submitter
- IMMT p.Glu699Ala Uncertain significance Single submitter
- IMMT p.Gly107Ser Uncertain significance Single submitter
- IMMT p.Gly319Glu Uncertain significance Single submitter
- IMMT p.Gly91Cys Uncertain significance Single submitter
- IMMT p.Gly9Arg Uncertain significance Single submitter
- IMMT p.His359Arg Uncertain significance Single submitter
- IMMT p.His455Tyr Uncertain significance Single submitter
- IMMT p.Ile468Thr Uncertain significance Single submitter
- IMMT p.Ile590Met Uncertain significance Single submitter
- IMMT p.Leu220Val Uncertain significance Single submitter
- IMMT p.Leu228Val Uncertain significance Single submitter
- IMMT p.Leu612Phe Uncertain significance Single submitter
- IMMT p.Leu641Met Uncertain significance Single submitter
- IMMT p.Lys170Asn Uncertain significance Single submitter
- IMMT p.Met260Val Uncertain significance Single submitter
- IMMT p.Phe669Val Uncertain significance Single submitter
- IMMT p.Ser106Leu Uncertain significance Single submitter
- IMMT p.Ser157Leu Uncertain significance Single submitter
- IMMT p.Ser388Asn Uncertain significance Single submitter
- IMMT p.Ser528Asn Uncertain significance Single submitter
- IMMT p.Ser594Thr Uncertain significance Single submitter
- IMMT p.Thr231Ala Uncertain significance Single submitter
- IMMT p.Thr431Met Uncertain significance Single submitter
- IMMT p.Thr43Ala Uncertain significance Single submitter
- IMMT p.Tyr658Cys Uncertain significance Single submitter
- IMMT p.Val363Gly Uncertain significance Single submitter
- IMMT p.Val558Ile Uncertain significance Single submitter
- IMMT p.Val573Gly Uncertain significance Single submitter
- IMMT p.Val748Ile Uncertain significance Single submitter
- IMMT p.Val748Leu Uncertain significance Single submitter
- IMMT p.Lys299Glu Uncertain significance No assertion criteria
Predictors split 11
The independent predictors disagree with each other — read with care.
- IMMT p.Ala642Val Uncertain significance Single submitter
- IMMT p.Arg485Gln Uncertain significance Single submitter
- IMMT p.Arg526Cys Uncertain significance Single submitter
- IMMT p.Arg623Cys Uncertain significance Single submitter
- IMMT p.Arg719Gln Uncertain significance Single submitter
- IMMT p.Glu476Ala Uncertain significance Single submitter
- IMMT p.Glu704Gly Uncertain significance Single submitter
- IMMT p.Ile737Met Uncertain significance Single submitter
- IMMT p.Ser34Phe Uncertain significance Single submitter
- IMMT p.Thr35Ile Uncertain significance Single submitter
- IMMT p.Val573Leu Uncertain significance Single submitter
All IMMT variants
Benign 5
- c.119+4T>C Multiple submitters
- p.Thr171= Multiple submitters
- p.Gly267= Single submitter
- p.Leu674= Single submitter
- p.Ser157= Single submitter
Likely benign 8
- p.Glu435Lys Multiple submitters
- p.Ala258= Single submitter
- p.Ala601Val Single submitter
- p.Ala614Thr Single submitter
- p.Ala633= Single submitter
- p.Asn254Ser Single submitter
- p.Gly40= Single submitter
- p.Val500= Single submitter
Uncertain significance 82
- p.Ala227Gly Single submitter ⚠
- p.Ala259Thr Single submitter
- p.Ala347Thr Single submitter ⚠
- p.Ala444Val Single submitter ⚠
- p.Ala462Val Single submitter ⚠
- p.Ala487Thr Single submitter ⚠
- p.Ala4Ser Single submitter ⚠
- p.Ala542Thr Single submitter
- p.Ala611Thr Single submitter ⚠
- p.Ala633Ser Single submitter ⚠
- p.Ala642Val Single submitter ⚠
- p.Ala94Thr Single submitter ⚠
- p.Arg205Cys Single submitter ⚠
- p.Arg205His Single submitter ⚠
- p.Arg284His Single submitter
- p.Arg366Trp Single submitter
- p.Arg443Gln Single submitter ⚠
- p.Arg484His Single submitter ⚠
- p.Arg485Gln Single submitter ⚠
- p.Arg526Cys Single submitter ⚠
- p.Arg564Lys Single submitter ⚠
- p.Arg623Cys Single submitter ⚠
- p.Arg634Gly Single submitter ⚠
- p.Arg634His Single submitter ⚠
- p.Arg719Gln Single submitter ⚠
- p.Asn250Ser Single submitter ⚠
- p.Asn96Asp Single submitter ⚠
- p.Asp134His Single submitter ⚠
- p.Asp293Asn Single submitter ⚠
- p.Asp684Gly Single submitter ⚠
- p.Cys603Phe Single submitter ⚠
- p.Gln273Glu Single submitter ⚠
- p.Gln428Glu Single submitter ⚠
- p.Gln610Glu Single submitter ⚠
- p.Gln6Leu Single submitter ⚠
- p.Gln736Glu Single submitter ⚠
- p.Glu116Asp Single submitter ⚠
- p.Glu167Lys Single submitter ⚠
- p.Glu188Ala Single submitter ⚠
- p.Glu470Val Single submitter ⚠
- p.Glu476Ala Single submitter ⚠
- p.Glu699Ala Single submitter ⚠
- p.Glu699Lys Single submitter
- p.Glu704Gly Single submitter ⚠
- p.Gly107Ser Single submitter ⚠
- p.Gly319Glu Single submitter ⚠
- p.Gly91Cys Single submitter ⚠
- p.Gly9Arg Single submitter ⚠
- p.His359Arg Single submitter ⚠
- p.His455Tyr Single submitter ⚠
- p.Ile468Thr Single submitter ⚠
- p.Ile590Met Single submitter ⚠
- p.Ile737Met Single submitter ⚠
- p.Leu220Val Single submitter ⚠
- p.Leu228Val Single submitter ⚠
- p.Leu612Phe Single submitter ⚠
- p.Leu641Met Single submitter ⚠
- p.Lys170Asn Single submitter ⚠
- p.Lys516Asn Single submitter
- p.Met260Val Single submitter ⚠
- p.Phe669Val Single submitter ⚠
- p.Pro676Leu Single submitter
- p.Ser106Leu Single submitter ⚠
- p.Ser157Leu Single submitter ⚠
- p.Ser34Phe Single submitter ⚠
- p.Ser388Asn Single submitter ⚠
- p.Ser528Asn Single submitter ⚠
- p.Ser594Thr Single submitter ⚠
- p.Thr231Ala Single submitter ⚠
- p.Thr235Ile Single submitter
- p.Thr35Ile Single submitter ⚠
- p.Thr431Met Single submitter ⚠
- p.Thr43Ala Single submitter ⚠
- p.Tyr658Cys Single submitter ⚠
- p.Val363Gly Single submitter ⚠
- p.Val558Ile Single submitter ⚠
- p.Val573Gly Single submitter ⚠
- p.Val573Leu Single submitter ⚠
- p.Val748Ile Single submitter ⚠
- p.Val748Leu Single submitter ⚠
- c.119+4_119+49del No assertion criteria
- p.Lys299Glu No assertion criteria ⚠