HCRTR1 — 60 ClinVar variants
All ClinVar germline HCRTR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 49 flagged for review →
3 Benign · 3 Likely benign · 54 Uncertain significance
Full HCRTR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 49
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.
- HCRTR1 p.Ala388Ser Uncertain significance Single submitter
- HCRTR1 p.Arg162Cys Uncertain significance Single submitter
- HCRTR1 p.Arg162His Uncertain significance Single submitter
- HCRTR1 p.Arg195Cys Uncertain significance Single submitter
- HCRTR1 p.Arg245His Uncertain significance Single submitter
- HCRTR1 p.Arg256Gln Uncertain significance Single submitter
- HCRTR1 p.Arg256Trp Uncertain significance Single submitter
- HCRTR1 p.Arg260Cys Uncertain significance Single submitter
- HCRTR1 p.Arg279Trp Uncertain significance Single submitter
- HCRTR1 p.Arg293Gln Uncertain significance Single submitter
- HCRTR1 p.Arg294Lys Uncertain significance Single submitter
- HCRTR1 p.Arg328His Uncertain significance Single submitter
- HCRTR1 p.Arg333His Uncertain significance Single submitter
- HCRTR1 p.Arg366Gln Uncertain significance Single submitter
- HCRTR1 p.Arg366Trp Uncertain significance Single submitter
- HCRTR1 p.Arg37Cys Uncertain significance Single submitter
- HCRTR1 p.Arg73Gln Uncertain significance Single submitter
- HCRTR1 p.Asn194Ser Uncertain significance Single submitter
- HCRTR1 p.Asp267Asn Uncertain significance Single submitter
- HCRTR1 p.Cys375Tyr Uncertain significance Single submitter
- HCRTR1 p.Cys383Arg Uncertain significance Single submitter
- HCRTR1 p.Glu275Asp Uncertain significance Single submitter
- HCRTR1 p.Glu275Lys Uncertain significance Single submitter
- HCRTR1 p.Glu28Ala Uncertain significance Single submitter
- HCRTR1 p.Glu28Lys Uncertain significance Single submitter
- HCRTR1 p.Gly115Asp Uncertain significance Single submitter
- HCRTR1 p.Gly12Glu Uncertain significance Single submitter
- HCRTR1 p.Gly16Val Uncertain significance Single submitter
- HCRTR1 p.His414Arg Uncertain significance Single submitter
- HCRTR1 p.His76Tyr Uncertain significance Single submitter
- HCRTR1 p.Leu225Val Uncertain significance Single submitter
- HCRTR1 p.Leu320Pro Uncertain significance Single submitter
- HCRTR1 p.Met77Thr Uncertain significance Single submitter
- HCRTR1 p.Phe369Leu Uncertain significance Single submitter
- HCRTR1 p.Pro101Ser Uncertain significance Single submitter
- HCRTR1 p.Pro248Thr Uncertain significance Single submitter
- HCRTR1 p.Ser217Gly Uncertain significance Single submitter
- HCRTR1 p.Ser362Gly Uncertain significance Single submitter
- HCRTR1 p.Ser4Leu Uncertain significance Single submitter
- HCRTR1 p.Thr65Met Uncertain significance Single submitter
- HCRTR1 p.Val316Ile Uncertain significance Single submitter
- HCRTR1 p.Val323Ala Uncertain significance Single submitter
- HCRTR1 p.Val420Ile Uncertain significance Single submitter
- HCRTR1 p.Val71Met Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All HCRTR1 variants
Benign 3
- p.Arg279Gln Multiple submitters
- p.Ala70= Single submitter
- p.Thr79= Single submitter
Likely benign 3
- c.965+10C>T Single submitter
- p.Arg205His Single submitter
- p.Met11Ile Single submitter
Uncertain significance 54
- c.965+1G>T Single submitter
- p.Ala180Thr Single submitter ⚠
- p.Ala388Ser Single submitter ⚠
- p.Arg160Trp Single submitter
- p.Arg162Cys Single submitter ⚠
- p.Arg162His Single submitter ⚠
- p.Arg195Cys Single submitter ⚠
- p.Arg245His Single submitter ⚠
- p.Arg256Gln Single submitter ⚠
- p.Arg256Trp Single submitter ⚠
- p.Arg260Cys Single submitter ⚠
- p.Arg279Trp Single submitter ⚠
- p.Arg293Gln Single submitter ⚠
- p.Arg294Lys Single submitter ⚠
- p.Arg328Cys Single submitter ⚠
- p.Arg328His Single submitter ⚠
- p.Arg333His Single submitter ⚠
- p.Arg366Gln Single submitter ⚠
- p.Arg366Trp Single submitter ⚠
- p.Arg37Cys Single submitter ⚠
- p.Arg73Gln Single submitter ⚠
- p.Asn194Ser Single submitter ⚠
- p.Asn87Ser Single submitter
- p.Asp107Asn Single submitter ⚠
- p.Asp267Asn Single submitter ⚠
- p.Cys375Tyr Single submitter ⚠
- p.Cys383Arg Single submitter ⚠
- p.Glu275Asp Single submitter ⚠
- p.Glu275Lys Single submitter ⚠
- p.Glu28Ala Single submitter ⚠
- p.Glu28Lys Single submitter ⚠
- p.Gly115Asp Single submitter ⚠
- p.Gly115Ser Single submitter
- p.Gly12Glu Single submitter ⚠
- p.Gly16Val Single submitter ⚠
- p.His414Arg Single submitter ⚠
- p.His76Tyr Single submitter ⚠
- p.Ile140Val Single submitter ⚠
- p.Leu225Val Single submitter ⚠
- p.Leu300Met Single submitter ⚠
- p.Leu320Pro Single submitter ⚠
- p.Met77Thr Single submitter ⚠
- p.Phe369Leu Single submitter ⚠
- p.Pro101Ser Single submitter ⚠
- p.Pro248Thr Single submitter ⚠
- p.Ser217Gly Single submitter ⚠
- p.Ser362Gly Single submitter ⚠
- p.Ser4Leu Single submitter ⚠
- p.Thr223Ile Single submitter
- p.Thr65Met Single submitter ⚠
- p.Val316Ile Single submitter ⚠
- p.Val323Ala Single submitter ⚠
- p.Val420Ile Single submitter ⚠
- p.Val71Met Single submitter ⚠