CIART — 57 ClinVar variants
All ClinVar germline CIART variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 52 flagged for review →
1 Benign · 4 Likely benign · 52 Uncertain significance
Full CIART gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 52
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 44
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CIART p.Ala255Pro Uncertain significance Single submitter
- CIART p.Ala255Val Uncertain significance Single submitter
- CIART p.Ala359Pro Uncertain significance Single submitter
- CIART p.Ala377Val Uncertain significance Single submitter
- CIART p.Ala380Ser Uncertain significance Single submitter
- CIART p.Arg160Ser Uncertain significance Single submitter
- CIART p.Arg367Gln Uncertain significance Single submitter
- CIART p.Arg83Gln Uncertain significance Single submitter
- CIART p.Asn257Asp Uncertain significance Single submitter
- CIART p.Asp345Glu Uncertain significance Single submitter
- CIART p.Asp99Gly Uncertain significance Single submitter
- CIART p.Gln297His Uncertain significance Single submitter
- CIART p.Glu230Val Uncertain significance Single submitter
- CIART p.Gly115Arg Uncertain significance Single submitter
- CIART p.Gly205Asp Uncertain significance Single submitter
- CIART p.Gly91Arg Uncertain significance Single submitter
- CIART p.His249Gln Uncertain significance Single submitter
- CIART p.His281Tyr Uncertain significance Single submitter
- CIART p.His298Arg Uncertain significance Single submitter
- CIART p.His75Arg Uncertain significance Single submitter
- CIART p.Ile364Thr Uncertain significance Single submitter
- CIART p.Ile364Val Uncertain significance Single submitter
- CIART p.Ile62Val Uncertain significance Single submitter
- CIART p.Leu126Phe Uncertain significance Single submitter
- CIART p.Leu240Val Uncertain significance Single submitter
- CIART p.Leu250Phe Uncertain significance Single submitter
- CIART p.Leu296Phe Uncertain significance Single submitter
- CIART p.Leu350Pro Uncertain significance Single submitter
- CIART p.Lys245Glu Uncertain significance Single submitter
- CIART p.Met229Val Uncertain significance Single submitter
- CIART p.Met89Val Uncertain significance Single submitter
- CIART p.Pro319Ser Uncertain significance Single submitter
- CIART p.Pro356His Uncertain significance Single submitter
- CIART p.Pro356Ser Uncertain significance Single submitter
- CIART p.Pro374Leu Uncertain significance Single submitter
- CIART p.Pro375Ala Uncertain significance Single submitter
- CIART p.Pro44Thr Uncertain significance Single submitter
- CIART p.Pro80Ala Uncertain significance Single submitter
- CIART p.Ser337Gly Uncertain significance Single submitter
- CIART p.Ser58Gly Uncertain significance Single submitter
- CIART p.Thr104Asn Uncertain significance Single submitter
- CIART p.Thr286Pro Uncertain significance Single submitter
- CIART p.Thr315Ile Uncertain significance Single submitter
- CIART p.Val340Glu Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- CIART p.Asp2Val Uncertain significance Single submitter
- CIART p.Gly128Arg Uncertain significance Single submitter
- CIART p.Ser12Tyr Uncertain significance Single submitter
- CIART p.Ser14Phe Uncertain significance Single submitter
- CIART p.Ser151Ile Uncertain significance Single submitter
- CIART p.Ser17Pro Uncertain significance Single submitter
- CIART p.Thr180Asn Uncertain significance Single submitter
- CIART p.Trp253Arg Uncertain significance Single submitter
All CIART variants
Benign 1
- p.Gln162= Multiple submitters
Likely benign 4
- p.Ala241Val Single submitter
- p.Gly72Ser Single submitter
- p.Ser227Pro Single submitter
- p.Ser85Leu Single submitter
Uncertain significance 52
- p.Ala255Pro Single submitter ⚠
- p.Ala255Val Single submitter ⚠
- p.Ala359Pro Single submitter ⚠
- p.Ala377Val Single submitter ⚠
- p.Ala380Ser Single submitter ⚠
- p.Arg160Ser Single submitter ⚠
- p.Arg367Gln Single submitter ⚠
- p.Arg83Gln Single submitter ⚠
- p.Asn257Asp Single submitter ⚠
- p.Asp2Val Single submitter ⚠
- p.Asp345Glu Single submitter ⚠
- p.Asp99Gly Single submitter ⚠
- p.Gln297His Single submitter ⚠
- p.Glu230Val Single submitter ⚠
- p.Gly115Arg Single submitter ⚠
- p.Gly128Arg Single submitter ⚠
- p.Gly205Asp Single submitter ⚠
- p.Gly91Arg Single submitter ⚠
- p.His249Gln Single submitter ⚠
- p.His281Tyr Single submitter ⚠
- p.His298Arg Single submitter ⚠
- p.His75Arg Single submitter ⚠
- p.Ile364Thr Single submitter ⚠
- p.Ile364Val Single submitter ⚠
- p.Ile62Val Single submitter ⚠
- p.Leu126Phe Single submitter ⚠
- p.Leu240Val Single submitter ⚠
- p.Leu250Phe Single submitter ⚠
- p.Leu296Phe Single submitter ⚠
- p.Leu350Pro Single submitter ⚠
- p.Lys245Glu Single submitter ⚠
- p.Met229Val Single submitter ⚠
- p.Met89Val Single submitter ⚠
- p.Pro319Ser Single submitter ⚠
- p.Pro356His Single submitter ⚠
- p.Pro356Ser Single submitter ⚠
- p.Pro374Leu Single submitter ⚠
- p.Pro375Ala Single submitter ⚠
- p.Pro44Thr Single submitter ⚠
- p.Pro80Ala Single submitter ⚠
- p.Ser12Tyr Single submitter ⚠
- p.Ser14Phe Single submitter ⚠
- p.Ser151Ile Single submitter ⚠
- p.Ser17Pro Single submitter ⚠
- p.Ser337Gly Single submitter ⚠
- p.Ser58Gly Single submitter ⚠
- p.Thr104Asn Single submitter ⚠
- p.Thr180Asn Single submitter ⚠
- p.Thr286Pro Single submitter ⚠
- p.Thr315Ile Single submitter ⚠
- p.Trp253Arg Single submitter ⚠
- p.Val340Glu Single submitter ⚠