ECSIT — 54 ClinVar variants
All ClinVar germline ECSIT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 44 flagged for review →
1 Benign · 8 Likely benign · 45 Uncertain significance
Full ECSIT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 44
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 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ECSIT p.Ala47Ser Uncertain significance Single submitter
- ECSIT p.Ala79Val Uncertain significance Single submitter
- ECSIT p.Arg217Gln Uncertain significance Single submitter
- ECSIT p.Arg36Trp Uncertain significance Single submitter
- ECSIT p.Arg84Gln Uncertain significance Single submitter
- ECSIT p.Asp333Asn Uncertain significance Single submitter
- ECSIT p.Cys14Gly Uncertain significance Single submitter
- ECSIT p.Cys160Tyr Uncertain significance Single submitter
- ECSIT p.Gln185Glu Uncertain significance Single submitter
- ECSIT p.Glu119Asp Uncertain significance Single submitter
- ECSIT p.Glu51Lys Uncertain significance Single submitter
- ECSIT p.Gly230Asp Uncertain significance Single submitter
- ECSIT p.Ile107Thr Uncertain significance Single submitter
- ECSIT p.Leu112Pro Uncertain significance Single submitter
- ECSIT p.Lys103Glu Uncertain significance Single submitter
- ECSIT p.Met168Ile Uncertain significance Single submitter
- ECSIT p.Pro259Ser Uncertain significance Single submitter
- ECSIT p.Val265Ile Uncertain significance Single submitter
- ECSIT p.Val55Ala Uncertain significance Single submitter
- ECSIT p.Val93Leu Uncertain significance Single submitter
Predictors split 24
The independent predictors disagree with each other — read with care.
- ECSIT p.Ala45Val Uncertain significance Single submitter
- ECSIT p.Ala97Val Uncertain significance Single submitter
- ECSIT p.Arg104Trp Uncertain significance Single submitter
- ECSIT p.Arg115Cys Uncertain significance Single submitter
- ECSIT p.Arg118Trp Uncertain significance Single submitter
- ECSIT p.Arg11Gln Uncertain significance Single submitter
- ECSIT p.Arg124Gln Uncertain significance Single submitter
- ECSIT p.Arg124Trp Uncertain significance Single submitter
- ECSIT p.Arg142Gly Uncertain significance Single submitter
- ECSIT p.Arg149Cys Uncertain significance Single submitter
- ECSIT p.Arg156Gln Uncertain significance Single submitter
- ECSIT p.Arg232Trp Uncertain significance Single submitter
- ECSIT p.Arg35Cys Uncertain significance Single submitter
- ECSIT p.Arg35His Uncertain significance Single submitter
- ECSIT p.Asn325Lys Uncertain significance Single submitter
- ECSIT p.Glu316Lys Uncertain significance Single submitter
- ECSIT p.Gly121Asp Uncertain significance Single submitter
- ECSIT p.Ile162Thr Uncertain significance Single submitter
- ECSIT p.Leu249Phe Uncertain significance Single submitter
- ECSIT p.Phe204Val Uncertain significance Single submitter
- ECSIT p.Pro193Leu Uncertain significance Single submitter
- ECSIT p.Pro329Leu Likely benign Single submitter
- ECSIT p.Ser253Leu Uncertain significance Single submitter
- ECSIT p.Val101Met Uncertain significance Single submitter
All ECSIT variants
Benign 1
- c.738+6C>T Single submitter
Likely benign 8
- p.Arg36Gln Single submitter
- p.Arg425= Single submitter
- p.Arg62Gln Single submitter
- p.Gly22Arg Single submitter
- p.Ile107Val Single submitter
- p.Ile146Val Single submitter
- p.Pro329Leu Single submitter ⚠
- p.Thr320Met Single submitter
Uncertain significance 45
- p.Ala45Val Single submitter ⚠
- p.Ala47Ser Single submitter ⚠
- p.Ala79Val Single submitter ⚠
- p.Ala97Val Single submitter ⚠
- p.Arg104Trp Single submitter ⚠
- p.Arg115Cys Single submitter ⚠
- p.Arg118Trp Single submitter ⚠
- p.Arg11Gln Single submitter ⚠
- p.Arg124Gln Single submitter ⚠
- p.Arg124Trp Single submitter ⚠
- p.Arg142Gly Single submitter ⚠
- p.Arg149Cys Single submitter ⚠
- p.Arg156Gln Single submitter ⚠
- p.Arg217Gln Single submitter ⚠
- p.Arg232Trp Single submitter ⚠
- p.Arg35Cys Single submitter ⚠
- p.Arg35His Single submitter ⚠
- p.Arg36Trp Single submitter ⚠
- p.Arg84Gln Single submitter ⚠
- p.Asn325Lys Single submitter ⚠
- p.Asp333Asn Single submitter ⚠
- p.Cys14Gly Single submitter ⚠
- p.Cys160Tyr Single submitter ⚠
- p.Gln185Glu Single submitter ⚠
- p.Gln331= Single submitter
- p.Glu119Asp Single submitter ⚠
- p.Glu316Lys Single submitter ⚠
- p.Glu51Lys Single submitter ⚠
- p.Gly121Asp Single submitter ⚠
- p.Gly230Asp Single submitter ⚠
- p.Ile107Thr Single submitter ⚠
- p.Ile162Thr Single submitter ⚠
- p.Leu112Pro Single submitter ⚠
- p.Leu249Phe Single submitter ⚠
- p.Lys103Glu Single submitter ⚠
- p.Met168Ile Single submitter ⚠
- p.Phe204Val Single submitter ⚠
- p.Pro193Leu Single submitter ⚠
- p.Pro259Ser Single submitter ⚠
- p.Ser253Leu Single submitter ⚠
- p.Val101Met Single submitter ⚠
- p.Val265Ile Single submitter ⚠
- p.Val317= Single submitter
- p.Val55Ala Single submitter ⚠
- p.Val93Leu Single submitter ⚠