CARTPT — 22 ClinVar variants
All ClinVar germline CARTPT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 14 flagged for review →
7 Benign · 2 Likely benign · 13 Uncertain significance
Full CARTPT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 14
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 4
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 10
The independent predictors disagree with each other — read with care.
- CARTPT p.Glu32Lys Likely benign Multiple submitters
- CARTPT p.Arg26Cys Uncertain significance Single submitter
- CARTPT p.Arg5His Uncertain significance Single submitter
- CARTPT p.Arg68His Uncertain significance Single submitter
- CARTPT p.Ile54Thr Uncertain significance Single submitter
- CARTPT p.Ile71Asn Uncertain significance Single submitter
- CARTPT p.Leu112Phe Uncertain significance Single submitter
- CARTPT p.Leu11Ile Uncertain significance Single submitter
- CARTPT p.Leu11Pro Uncertain significance Single submitter
- CARTPT p.Thr106Ser Uncertain significance Single submitter
All CARTPT variants
Benign 7
- c.159+172C>T Multiple submitters
- c.160-204A>G Multiple submitters
- c.*126C>A Multiple submitters
- c.*39A>G Multiple submitters
- c.*6C>G Multiple submitters
- c.*77G>A Multiple submitters
- c.*21del Single submitter
Likely benign 2
- p.Glu32Lys Multiple submitters ⚠
- p.Val90= Single submitter
Uncertain significance 13
- p.Leu61Phe Multiple submitters obesity disorder ⚠
- p.Ala31Ser Single submitter ⚠
- p.Ala37Thr Single submitter ⚠
- p.Arg26Cys Single submitter ⚠
- p.Arg5His Single submitter ⚠
- p.Arg68His Single submitter ⚠
- p.Ile54Thr Single submitter ⚠
- p.Ile71Asn Single submitter ⚠
- p.Leu112Phe Single submitter ⚠
- p.Leu11Ile Single submitter ⚠
- p.Leu11Pro Single submitter ⚠
- p.Ser3Gly Single submitter ⚠
- p.Thr106Ser Single submitter ⚠