HCAR1 — 70 ClinVar variants
All ClinVar germline HCAR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 63 flagged for review →
1 Benign · 69 Uncertain significance
Full HCAR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 63
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 50
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HCAR1 p.Ala82Ser Uncertain significance Single submitter
- HCAR1 p.Arg130Pro Uncertain significance Single submitter
- HCAR1 p.Arg214Gln Uncertain significance Single submitter
- HCAR1 p.Arg214Trp Uncertain significance Single submitter
- HCAR1 p.Arg220Gly Uncertain significance Single submitter
- HCAR1 p.Arg220Trp Uncertain significance Single submitter
- HCAR1 p.Arg320Ser Uncertain significance Single submitter
- HCAR1 p.Asn33Lys Uncertain significance Single submitter
- HCAR1 p.Asn56Ser Uncertain significance Single submitter
- HCAR1 p.Asp335Asn Uncertain significance Single submitter
- HCAR1 p.Gln16Leu Uncertain significance Single submitter
- HCAR1 p.Gln208Pro Uncertain significance Single submitter
- HCAR1 p.Gly101Arg Uncertain significance Single submitter
- HCAR1 p.His304Tyr Uncertain significance Single submitter
- HCAR1 p.Ile294Val Uncertain significance Single submitter
- HCAR1 p.Ile315Val Uncertain significance Single submitter
- HCAR1 p.Ile66Thr Uncertain significance Single submitter
- HCAR1 p.Ile86Thr Uncertain significance Single submitter
- HCAR1 p.Leu183Pro Uncertain significance Single submitter
- HCAR1 p.Leu193Ser Uncertain significance Single submitter
- HCAR1 p.Leu209Arg Uncertain significance Single submitter
- HCAR1 p.Leu276Val Uncertain significance Single submitter
- HCAR1 p.Leu318Phe Uncertain significance Single submitter
- HCAR1 p.Leu63Pro Uncertain significance Single submitter
- HCAR1 p.Lys287Arg Uncertain significance Single submitter
- HCAR1 p.Lys291Arg Uncertain significance Single submitter
- HCAR1 p.Met223Leu Uncertain significance Single submitter
- HCAR1 p.Met44Val Uncertain significance Single submitter
- HCAR1 p.Phe266Leu Uncertain significance Single submitter
- HCAR1 p.Phe93Leu Uncertain significance Single submitter
- HCAR1 p.Pro254Leu Uncertain significance Single submitter
- HCAR1 p.Pro310Leu Uncertain significance Single submitter
- HCAR1 p.Ser249Leu Uncertain significance Single submitter
- HCAR1 p.Ser255Phe Uncertain significance Single submitter
- HCAR1 p.Ser305Pro Uncertain significance Single submitter
- HCAR1 p.Ser325Asn Uncertain significance Single submitter
- HCAR1 p.Ser50Arg Uncertain significance Single submitter
- HCAR1 p.Thr129Ile Uncertain significance Single submitter
- HCAR1 p.Thr161Met Uncertain significance Single submitter
- HCAR1 p.Thr219Ile Uncertain significance Single submitter
- HCAR1 p.Thr246Met Uncertain significance Single submitter
- HCAR1 p.Thr263Asn Uncertain significance Single submitter
- HCAR1 p.Trp140Arg Uncertain significance Single submitter
- HCAR1 p.Tyr233Phe Uncertain significance Single submitter
- HCAR1 p.Tyr53Phe Uncertain significance Single submitter
- HCAR1 p.Tyr74Cys Uncertain significance Single submitter
- HCAR1 p.Val117Ala Uncertain significance Single submitter
- HCAR1 p.Val136Ile Uncertain significance Single submitter
- HCAR1 p.Val237Met Uncertain significance Single submitter
- HCAR1 p.Val59Ala Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- HCAR1 p.Ala30Pro Uncertain significance Single submitter
- HCAR1 p.Arg205Trp Uncertain significance Single submitter
- HCAR1 p.Gly34Arg Uncertain significance Single submitter
- HCAR1 p.Ile192Thr Uncertain significance Single submitter
- HCAR1 p.Ile66Asn Uncertain significance Single submitter
- HCAR1 p.Met65Arg Uncertain significance Single submitter
- HCAR1 p.Met65Lys Uncertain significance Single submitter
- HCAR1 p.Phe83Ser Uncertain significance Single submitter
- HCAR1 p.Thr107Met Uncertain significance Single submitter
- HCAR1 p.Thr107Ser Uncertain significance Single submitter
- HCAR1 p.Thr94Pro Uncertain significance Single submitter
- HCAR1 p.Val104Glu Uncertain significance Single submitter
- HCAR1 p.Val136Phe Uncertain significance Single submitter
All HCAR1 variants
Benign 1
- p.Ser172Leu Single submitter
Uncertain significance 69
- p.Ala30Pro Single submitter ⚠
- p.Ala82Ser Single submitter ⚠
- p.Arg130Pro Single submitter ⚠
- p.Arg205Trp Single submitter ⚠
- p.Arg214Gln Single submitter ⚠
- p.Arg214Trp Single submitter ⚠
- p.Arg220Gly Single submitter ⚠
- p.Arg220Trp Single submitter ⚠
- p.Arg320Ser Single submitter ⚠
- p.Asn33Lys Single submitter ⚠
- p.Asn56Ser Single submitter ⚠
- p.Asp335Asn Single submitter ⚠
- p.Asp73Val Single submitter
- p.Gln16Leu Single submitter ⚠
- p.Gln208Pro Single submitter ⚠
- p.Glu184Ala Single submitter
- p.Gly101Arg Single submitter ⚠
- p.Gly34Arg Single submitter ⚠
- p.His304Tyr Single submitter ⚠
- p.Ile192Thr Single submitter ⚠
- p.Ile294Val Single submitter ⚠
- p.Ile315Val Single submitter ⚠
- p.Ile66Asn Single submitter ⚠
- p.Ile66Thr Single submitter ⚠
- p.Ile86Thr Single submitter ⚠
- p.Leu142Pro Single submitter
- p.Leu183Pro Single submitter ⚠
- p.Leu193Ser Single submitter ⚠
- p.Leu203Arg Single submitter
- p.Leu209Arg Single submitter ⚠
- p.Leu276Val Single submitter ⚠
- p.Leu318Phe Single submitter ⚠
- p.Leu63Pro Single submitter ⚠
- p.Lys287Arg Single submitter ⚠
- p.Lys291Arg Single submitter ⚠
- p.Met223Leu Single submitter ⚠
- p.Met44Val Single submitter ⚠
- p.Met65Arg Single submitter ⚠
- p.Met65Lys Single submitter ⚠
- p.Phe266Leu Single submitter ⚠
- p.Phe83Ser Single submitter ⚠
- p.Phe93Leu Single submitter ⚠
- p.Pro254Leu Single submitter ⚠
- p.Pro310Leu Single submitter ⚠
- p.Ser249Leu Single submitter ⚠
- p.Ser255Phe Single submitter ⚠
- p.Ser305Pro Single submitter ⚠
- p.Ser325Asn Single submitter ⚠
- p.Ser50Arg Single submitter ⚠
- p.Thr107Met Single submitter ⚠
- p.Thr107Ser Single submitter ⚠
- p.Thr129Ile Single submitter ⚠
- p.Thr161Met Single submitter ⚠
- p.Thr219Ile Single submitter ⚠
- p.Thr246Met Single submitter ⚠
- p.Thr263Asn Single submitter ⚠
- p.Thr94Pro Single submitter ⚠
- p.Trp140Arg Single submitter ⚠
- p.Tyr233Phe Single submitter ⚠
- p.Tyr53Phe Single submitter ⚠
- p.Tyr74Asn Single submitter
- p.Tyr74Cys Single submitter ⚠
- p.Val104Glu Single submitter ⚠
- p.Val117Ala Single submitter ⚠
- p.Val136Ile Single submitter ⚠
- p.Val136Phe Single submitter ⚠
- p.Val237Met Single submitter ⚠
- p.Val52Ala Single submitter
- p.Val59Ala Single submitter ⚠