CARHSP1 — 51 ClinVar variants
All ClinVar germline CARHSP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 50 flagged for review →
1 Likely benign · 50 Uncertain significance
Full CARHSP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 50
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 22
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CARHSP1 p.Ala16Gly Uncertain significance Single submitter
- CARHSP1 p.Arg25Gln Uncertain significance Single submitter
- CARHSP1 p.Arg25Gly Uncertain significance Single submitter
- CARHSP1 p.Arg72Trp Uncertain significance Single submitter
- CARHSP1 p.Asn37Lys Uncertain significance Single submitter
- CARHSP1 p.Asp87His Uncertain significance Single submitter
- CARHSP1 p.Cys69Tyr Uncertain significance Single submitter
- CARHSP1 p.Gln15Glu Uncertain significance Single submitter
- CARHSP1 p.Gln15Lys Uncertain significance Single submitter
- CARHSP1 p.Gln59Arg Uncertain significance Single submitter
- CARHSP1 p.Gly19Arg Uncertain significance Single submitter
- CARHSP1 p.Gly36Ser Uncertain significance Single submitter
- CARHSP1 p.Gly75Ser Uncertain significance Single submitter
- CARHSP1 p.Gly85Ser Uncertain significance Single submitter
- CARHSP1 p.Leu20Pro Uncertain significance Single submitter
- CARHSP1 p.Leu34Pro Uncertain significance Single submitter
- CARHSP1 p.Pro12Ser Uncertain significance Single submitter
- CARHSP1 p.Ser52Leu Uncertain significance Single submitter
- CARHSP1 p.Thr23Ser Uncertain significance Single submitter
- CARHSP1 p.Thr48Arg Uncertain significance Single submitter
- CARHSP1 p.Thr50Ile Uncertain significance Single submitter
- CARHSP1 p.Val124Leu Uncertain significance Single submitter
Predictors split 28
The independent predictors disagree with each other — read with care.
- CARHSP1 p.Arg27Cys Uncertain significance Single submitter
- CARHSP1 p.Arg29His Uncertain significance Single submitter
- CARHSP1 p.Arg29Pro Uncertain significance Single submitter
- CARHSP1 p.Arg35Gln Uncertain significance Single submitter
- CARHSP1 p.Arg56Gln Uncertain significance Single submitter
- CARHSP1 p.Arg56Leu Uncertain significance Single submitter
- CARHSP1 p.Arg72Gln Uncertain significance Single submitter
- CARHSP1 p.Asp83Ala Uncertain significance Single submitter
- CARHSP1 p.Asp83Val Uncertain significance Single submitter
- CARHSP1 p.Gly19Trp Uncertain significance Single submitter
- CARHSP1 p.Ile145Phe Uncertain significance Single submitter
- CARHSP1 p.Lys136Asn Uncertain significance Single submitter
- CARHSP1 p.Pro44Ala Uncertain significance Single submitter
- CARHSP1 p.Pro8Leu Uncertain significance Single submitter
- CARHSP1 p.Pro9Leu Uncertain significance Single submitter
- CARHSP1 p.Ser113Phe Uncertain significance Single submitter
- CARHSP1 p.Ser26Asn Uncertain significance Single submitter
- CARHSP1 p.Thr135Ser Uncertain significance Single submitter
- CARHSP1 p.Thr48Lys Uncertain significance Single submitter
- CARHSP1 p.Thr48Met Uncertain significance Single submitter
- CARHSP1 p.Thr54Met Uncertain significance Single submitter
- CARHSP1 p.Thr80Asn Uncertain significance Single submitter
- CARHSP1 p.Val102Ala Uncertain significance Single submitter
- CARHSP1 p.Val127Ile Uncertain significance Single submitter
- CARHSP1 p.Val18Phe Uncertain significance Single submitter
- CARHSP1 p.Val38Met Uncertain significance Single submitter
- CARHSP1 p.Val62Ile Uncertain significance Single submitter
- CARHSP1 p.Val62Phe Uncertain significance Single submitter
All CARHSP1 variants
Likely benign 1
- p.Thr50= Single submitter
Uncertain significance 50
- p.Ala16Gly Single submitter ⚠
- p.Arg25Gln Single submitter ⚠
- p.Arg25Gly Single submitter ⚠
- p.Arg27Cys Single submitter ⚠
- p.Arg29His Single submitter ⚠
- p.Arg29Pro Single submitter ⚠
- p.Arg35Gln Single submitter ⚠
- p.Arg56Gln Single submitter ⚠
- p.Arg56Leu Single submitter ⚠
- p.Arg72Gln Single submitter ⚠
- p.Arg72Trp Single submitter ⚠
- p.Asn37Lys Single submitter ⚠
- p.Asp83Ala Single submitter ⚠
- p.Asp83Val Single submitter ⚠
- p.Asp87His Single submitter ⚠
- p.Cys69Tyr Single submitter ⚠
- p.Gln15Glu Single submitter ⚠
- p.Gln15Lys Single submitter ⚠
- p.Gln59Arg Single submitter ⚠
- p.Gly19Arg Single submitter ⚠
- p.Gly19Trp Single submitter ⚠
- p.Gly36Ser Single submitter ⚠
- p.Gly75Ser Single submitter ⚠
- p.Gly85Ser Single submitter ⚠
- p.Ile145Phe Single submitter ⚠
- p.Leu20Pro Single submitter ⚠
- p.Leu34Pro Single submitter ⚠
- p.Lys136Asn Single submitter ⚠
- p.Pro12Ser Single submitter ⚠
- p.Pro44Ala Single submitter ⚠
- p.Pro8Leu Single submitter ⚠
- p.Pro9Leu Single submitter ⚠
- p.Ser113Phe Single submitter ⚠
- p.Ser26Asn Single submitter ⚠
- p.Ser52Leu Single submitter ⚠
- p.Thr135Ser Single submitter ⚠
- p.Thr23Ser Single submitter ⚠
- p.Thr48Arg Single submitter ⚠
- p.Thr48Lys Single submitter ⚠
- p.Thr48Met Single submitter ⚠
- p.Thr50Ile Single submitter ⚠
- p.Thr54Met Single submitter ⚠
- p.Thr80Asn Single submitter ⚠
- p.Val102Ala Single submitter ⚠
- p.Val124Leu Single submitter ⚠
- p.Val127Ile Single submitter ⚠
- p.Val18Phe Single submitter ⚠
- p.Val38Met Single submitter ⚠
- p.Val62Ile Single submitter ⚠
- p.Val62Phe Single submitter ⚠