HCRTR2 — 54 ClinVar variants
All ClinVar germline HCRTR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 42 flagged for review →
1 Conflicting · 4 Benign · 5 Likely benign · 44 Uncertain significance
Full HCRTR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 42
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 36
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HCRTR2 p.Ala201Gly Uncertain significance Single submitter
- HCRTR2 p.Ala378Val Uncertain significance Single submitter
- HCRTR2 p.Arg213Cys Uncertain significance Single submitter
- HCRTR2 p.Arg248Leu Uncertain significance Single submitter
- HCRTR2 p.Arg253Gly Uncertain significance Single submitter
- HCRTR2 p.Arg276Gln Uncertain significance Single submitter
- HCRTR2 p.Arg276Gly Uncertain significance Single submitter
- HCRTR2 p.Arg389His Uncertain significance Single submitter
- HCRTR2 p.Arg404Gln Uncertain significance Single submitter
- HCRTR2 p.Asn14Ser Uncertain significance Single submitter
- HCRTR2 p.Asn436Ser Uncertain significance Single submitter
- HCRTR2 p.Asp35Glu Uncertain significance Single submitter
- HCRTR2 p.Asp36Glu Uncertain significance Single submitter
- HCRTR2 p.Cys226Gly Uncertain significance Single submitter
- HCRTR2 p.Gln410Glu Uncertain significance Single submitter
- HCRTR2 p.Glu391Asp Uncertain significance Single submitter
- HCRTR2 p.Glu391Val Uncertain significance Single submitter
- HCRTR2 p.Gly277Arg Uncertain significance Single submitter
- HCRTR2 p.Gly277Val Uncertain significance Single submitter
- HCRTR2 p.Gly60Ala Uncertain significance Single submitter
- HCRTR2 p.Gly60Val Uncertain significance Single submitter
- HCRTR2 p.Ile183Val Uncertain significance Single submitter
- HCRTR2 p.Ile322Val Uncertain significance Single submitter
- HCRTR2 p.Ile70Leu Uncertain significance Single submitter
- HCRTR2 p.Leu384His Uncertain significance Single submitter
- HCRTR2 p.Leu407Trp Uncertain significance Single submitter
- HCRTR2 p.Leu69Phe Uncertain significance Single submitter
- HCRTR2 p.Lys283Thr Uncertain significance Single submitter
- HCRTR2 p.Pro235Ser Uncertain significance Single submitter
- HCRTR2 p.Ser259Thr Uncertain significance Single submitter
- HCRTR2 p.Ser260Thr Uncertain significance Single submitter
- HCRTR2 p.Ser412Gly Uncertain significance Single submitter
- HCRTR2 p.Ser9Pro Uncertain significance Single submitter
- HCRTR2 p.Thr395Ile Uncertain significance Single submitter
- HCRTR2 p.Tyr53Cys Uncertain significance Single submitter
- HCRTR2 p.Val386Leu Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All HCRTR2 variants
Conflicting classifications of pathogenicity 1
- p.Thr431Lys Single submitter ⚠
Benign 4
- p.Leu394= Single submitter
- p.Thr282= Single submitter
- p.Ile148= No assertion criteria HCRTR2-related disorder
- p.Ile308Val No assertion criteria HCRTR2-related disorder
Likely benign 5
- p.Arg393Gln Single submitter
- p.Cys193Ser No assertion criteria HCRTR2-related disorder
- p.Gly71= No assertion criteria HCRTR2-related disorder
- p.Pro10= No assertion criteria HCRTR2-related disorder
- p.Pro10Ser No assertion criteria HCRTR2-related disorder
Uncertain significance 44
- p.Ala201Gly Single submitter ⚠
- p.Ala378Val Single submitter ⚠
- p.Ala99Ser Single submitter
- p.Arg170His Single submitter ⚠
- p.Arg213Cys Single submitter ⚠
- p.Arg248Leu Single submitter ⚠
- p.Arg253Gly Single submitter ⚠
- p.Arg276Gln Single submitter ⚠
- p.Arg276Gly Single submitter ⚠
- p.Arg389His Single submitter ⚠
- p.Arg404Gln Single submitter ⚠
- p.Arg86Lys Single submitter
- p.Asn14Ser Single submitter ⚠
- p.Asn436Ser Single submitter ⚠
- p.Asp35Glu Single submitter ⚠
- p.Asp36Glu Single submitter ⚠
- p.Cys226Gly Single submitter ⚠
- p.Gln410Glu Single submitter ⚠
- p.Glu391Asp Single submitter ⚠
- p.Glu391Val Single submitter ⚠
- p.Gly277Arg Single submitter ⚠
- p.Gly277Val Single submitter ⚠
- p.Gly60Ala Single submitter ⚠
- p.Gly60Val Single submitter ⚠
- p.Ile105Thr Single submitter
- p.Ile176Thr Single submitter ⚠
- p.Ile183Val Single submitter ⚠
- p.Ile246Val Single submitter ⚠
- p.Ile322Val Single submitter ⚠
- p.Ile70Leu Single submitter ⚠
- p.Leu384His Single submitter ⚠
- p.Leu407Trp Single submitter ⚠
- p.Leu69Phe Single submitter ⚠
- p.Lys283Thr Single submitter ⚠
- p.Pro235Ser Single submitter ⚠
- p.Ser259Thr Single submitter ⚠
- p.Ser260Thr Single submitter ⚠
- p.Ser368Asn Single submitter ⚠
- p.Ser412Gly Single submitter ⚠
- p.Ser9Pro Single submitter ⚠
- p.Thr395Ile Single submitter ⚠
- p.Trp55Arg Single submitter ⚠
- p.Tyr53Cys Single submitter ⚠
- p.Val386Leu Single submitter ⚠