CHTOP — 36 ClinVar variants
All ClinVar germline CHTOP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
3 Likely benign · 33 Uncertain significance
Full CHTOP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 33
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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CHTOP p.Ala99Ser Uncertain significance Single submitter
- CHTOP p.Arg187Trp Uncertain significance Single submitter
- CHTOP p.Arg195Leu Uncertain significance Single submitter
- CHTOP p.Arg87Gln Uncertain significance Single submitter
- CHTOP p.Asn247Ser Uncertain significance Single submitter
- CHTOP p.Gln77Arg Uncertain significance Single submitter
- CHTOP p.Gly102Glu Uncertain significance Single submitter
- CHTOP p.Gly176Arg Uncertain significance Single submitter
- CHTOP p.Gly98Glu Uncertain significance Single submitter
- CHTOP p.Ile100Val Uncertain significance Single submitter
- CHTOP p.Leu126Pro Uncertain significance Single submitter
- CHTOP p.Leu206Val Uncertain significance Single submitter
- CHTOP p.Met131Ile Uncertain significance Single submitter
- CHTOP p.Met184Leu Uncertain significance Single submitter
- CHTOP p.Met26Thr Uncertain significance Single submitter
- CHTOP p.Met26Val Uncertain significance Single submitter
- CHTOP p.Pro113Arg Uncertain significance Single submitter
- CHTOP p.Thr125Ile Uncertain significance Single submitter
Predictors split 15
The independent predictors disagree with each other — read with care.
- CHTOP p.Arg110Lys Uncertain significance Single submitter
- CHTOP p.Arg124Thr Uncertain significance Single submitter
- CHTOP p.Arg157Gln Uncertain significance Single submitter
- CHTOP p.Arg159His Uncertain significance Single submitter
- CHTOP p.Arg169His Uncertain significance Single submitter
- CHTOP p.Arg197Gln Uncertain significance Single submitter
- CHTOP p.Arg208His Uncertain significance Single submitter
- CHTOP p.Gly104Ala Uncertain significance Single submitter
- CHTOP p.Gly104Val Uncertain significance Single submitter
- CHTOP p.Gly183Ser Uncertain significance Single submitter
- CHTOP p.His230Gln Uncertain significance Single submitter
- CHTOP p.Leu126Gln Uncertain significance Single submitter
- CHTOP p.Pro209Ser Uncertain significance Single submitter
- CHTOP p.Pro7Leu Uncertain significance Single submitter
- CHTOP p.Ser225Thr Uncertain significance Single submitter
All CHTOP variants
Likely benign 3
- p.Arg22= Single submitter
- p.Gly204_Ala205insArgGly Single submitter
- p.Thr33Met Single submitter
Uncertain significance 33
- p.Ala99Ser Single submitter ⚠
- p.Arg110Lys Single submitter ⚠
- p.Arg124Thr Single submitter ⚠
- p.Arg157Gln Single submitter ⚠
- p.Arg159His Single submitter ⚠
- p.Arg169His Single submitter ⚠
- p.Arg187Trp Single submitter ⚠
- p.Arg195Leu Single submitter ⚠
- p.Arg197Gln Single submitter ⚠
- p.Arg208His Single submitter ⚠
- p.Arg87Gln Single submitter ⚠
- p.Asn247Ser Single submitter ⚠
- p.Gln77Arg Single submitter ⚠
- p.Gly102Glu Single submitter ⚠
- p.Gly104Ala Single submitter ⚠
- p.Gly104Val Single submitter ⚠
- p.Gly176Arg Single submitter ⚠
- p.Gly183Ser Single submitter ⚠
- p.Gly98Glu Single submitter ⚠
- p.His230Gln Single submitter ⚠
- p.Ile100Val Single submitter ⚠
- p.Leu126Gln Single submitter ⚠
- p.Leu126Pro Single submitter ⚠
- p.Leu206Val Single submitter ⚠
- p.Met131Ile Single submitter ⚠
- p.Met184Leu Single submitter ⚠
- p.Met26Thr Single submitter ⚠
- p.Met26Val Single submitter ⚠
- p.Pro113Arg Single submitter ⚠
- p.Pro209Ser Single submitter ⚠
- p.Pro7Leu Single submitter ⚠
- p.Ser225Thr Single submitter ⚠
- p.Thr125Ile Single submitter ⚠