CLTRN — 24 ClinVar variants
All ClinVar germline CLTRN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
2 Likely benign · 22 Uncertain significance
Full CLTRN gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
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 16
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CLTRN p.Asp120Gly Uncertain significance Single submitter
- CLTRN p.Asp199Glu Uncertain significance Single submitter
- CLTRN p.Asp202Asn Uncertain significance Single submitter
- CLTRN p.Asp216Asn Uncertain significance Single submitter
- CLTRN p.Asp43Tyr Uncertain significance Single submitter
- CLTRN p.Glu215Gly Uncertain significance Single submitter
- CLTRN p.Leu163Phe Uncertain significance Single submitter
- CLTRN p.Leu16Phe Uncertain significance Single submitter
- CLTRN p.Leu29His Uncertain significance Single submitter
- CLTRN p.Lys38Glu Uncertain significance Single submitter
- CLTRN p.Met203Leu Uncertain significance Single submitter
- CLTRN p.Met53Val Uncertain significance Single submitter
- CLTRN p.Pro197Ser Uncertain significance Single submitter
- CLTRN p.Thr44Ala Uncertain significance Single submitter
- CLTRN p.Trp42Arg Uncertain significance Single submitter
- CLTRN p.Val72Ile Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- CLTRN p.Ala52Gly Uncertain significance Single submitter
- CLTRN p.Asn119Ile Uncertain significance Single submitter
- CLTRN p.Glu100Lys Uncertain significance Single submitter
-
CLTRN p.Glu46Val
Uncertain significance
Single submitter
autism
- CLTRN p.Leu160Gln Uncertain significance Single submitter
- CLTRN p.Leu49Phe Uncertain significance Single submitter
All CLTRN variants
Likely benign 2
- p.Asn45Ser Single submitter
- p.Glu175Gly Single submitter
Uncertain significance 22
- p.Ala52Gly Single submitter ⚠
- p.Asn119Ile Single submitter ⚠
- p.Asp120Gly Single submitter ⚠
- p.Asp199Glu Single submitter ⚠
- p.Asp202Asn Single submitter ⚠
- p.Asp216Asn Single submitter ⚠
- p.Asp43Tyr Single submitter ⚠
- p.Glu100Lys Single submitter ⚠
- p.Glu215Gly Single submitter ⚠
- p.Glu46Val Single submitter autism ⚠
- p.Leu160Gln Single submitter ⚠
- p.Leu163Phe Single submitter ⚠
- p.Leu16Phe Single submitter ⚠
- p.Leu29His Single submitter ⚠
- p.Leu49Phe Single submitter ⚠
- p.Lys38Glu Single submitter ⚠
- p.Met203Leu Single submitter ⚠
- p.Met53Val Single submitter ⚠
- p.Pro197Ser Single submitter ⚠
- p.Thr44Ala Single submitter ⚠
- p.Trp42Arg Single submitter ⚠
- p.Val72Ile Single submitter ⚠