HCAR2 — 63 ClinVar variants
All ClinVar germline HCAR2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →
1 Benign · 2 Likely benign · 60 Uncertain significance
Full HCAR2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 57
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 45
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HCAR2 p.Ala135Ser Uncertain significance Single submitter
- HCAR2 p.Ala135Thr Uncertain significance Single submitter
- HCAR2 p.Arg111Cys Uncertain significance Single submitter
- HCAR2 p.Arg111His Uncertain significance Single submitter
- HCAR2 p.Arg125Gly Uncertain significance Single submitter
- HCAR2 p.Arg142Gln Uncertain significance Single submitter
- HCAR2 p.Arg216Trp Uncertain significance Single submitter
- HCAR2 p.Arg251Gln Uncertain significance Single submitter
- HCAR2 p.Arg251Trp Uncertain significance Single submitter
- HCAR2 p.Arg325Cys Uncertain significance Single submitter
- HCAR2 p.Arg3Gln Uncertain significance Single submitter
- HCAR2 p.Arg63Leu Uncertain significance Single submitter
- HCAR2 p.Arg90Cys Uncertain significance Single submitter
- HCAR2 p.Asn324Tyr Uncertain significance Single submitter
- HCAR2 p.Asn348Ile Uncertain significance Single submitter
- HCAR2 p.Glu320Asp Uncertain significance Single submitter
- HCAR2 p.Gly153Ser Uncertain significance Single submitter
- HCAR2 p.Gly173Cys Uncertain significance Single submitter
- HCAR2 p.Gly173Ser Uncertain significance Single submitter
- HCAR2 p.His5Gln Uncertain significance Single submitter
- HCAR2 p.His9Tyr Uncertain significance Single submitter
- HCAR2 p.Ile78Phe Uncertain significance Single submitter
- HCAR2 p.Leu151Met Uncertain significance Single submitter
- HCAR2 p.Leu83Met Uncertain significance Single submitter
- HCAR2 p.Lys138Asn Uncertain significance Single submitter
- HCAR2 p.Lys28Gln Uncertain significance Single submitter
- HCAR2 p.Met106Leu Uncertain significance Single submitter
- HCAR2 p.Met167Ile Uncertain significance Single submitter
- HCAR2 p.Met234Thr Uncertain significance Single submitter
- HCAR2 p.Phe186Ile Uncertain significance Single submitter
- HCAR2 p.Pro291Ser Uncertain significance Single submitter
- HCAR2 p.Pro299Ser Uncertain significance Single submitter
- HCAR2 p.Pro302Ser Uncertain significance Single submitter
- HCAR2 p.Ser214Arg Uncertain significance Single submitter
- HCAR2 p.Ser271Leu Uncertain significance Single submitter
- HCAR2 p.Ser354Arg Uncertain significance Single submitter
- HCAR2 p.Ser356Thr Uncertain significance Single submitter
- HCAR2 p.Thr155Ile Uncertain significance Single submitter
- HCAR2 p.Thr185Ile Uncertain significance Single submitter
- HCAR2 p.Thr263Met Uncertain significance Single submitter
- HCAR2 p.Trp188Cys Uncertain significance Single submitter
- HCAR2 p.Val160Ile Uncertain significance Single submitter
- HCAR2 p.Val239Ile Uncertain significance Single submitter
- HCAR2 p.Val272Ala Uncertain significance Single submitter
- HCAR2 p.Val292Met Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- HCAR2 p.Ala70Thr Uncertain significance Single submitter
- HCAR2 p.Asn68Ser Uncertain significance Single submitter
- HCAR2 p.Ile13Thr Uncertain significance Single submitter
- HCAR2 p.Ile77Thr Uncertain significance Single submitter
- HCAR2 p.Lys225Asn Uncertain significance Single submitter
- HCAR2 p.Phe117Leu Uncertain significance Single submitter
- HCAR2 p.Phe186Leu Uncertain significance Single submitter
- HCAR2 p.Phe244Leu Uncertain significance Single submitter
- HCAR2 p.Phe304Leu Uncertain significance Single submitter
- HCAR2 p.Phe82Leu Uncertain significance Single submitter
- HCAR2 p.Tyr87Ser Uncertain significance Single submitter
- HCAR2 p.Val248Leu Uncertain significance Single submitter
All HCAR2 variants
Benign 1
- p.Met317Ile Multiple submitters
Likely benign 2
- p.Ile154Val Single submitter
- p.Val241Ile Single submitter
Uncertain significance 60
- p.Ala135Ser Single submitter ⚠
- p.Ala135Thr Single submitter ⚠
- p.Ala70Thr Single submitter ⚠
- p.Arg111Cys Single submitter ⚠
- p.Arg111His Single submitter ⚠
- p.Arg125Gly Single submitter ⚠
- p.Arg142Gln Single submitter ⚠
- p.Arg216Trp Single submitter ⚠
- p.Arg251Gln Single submitter ⚠
- p.Arg251Trp Single submitter ⚠
- p.Arg325Cys Single submitter ⚠
- p.Arg3Gln Single submitter ⚠
- p.Arg63Leu Single submitter ⚠
- p.Arg90Cys Single submitter ⚠
- p.Asn324Tyr Single submitter ⚠
- p.Asn348Ile Single submitter ⚠
- p.Asn68Ser Single submitter ⚠
- p.Cys79Gly Single submitter
- p.Glu320Asp Single submitter ⚠
- p.Gly153Ser Single submitter ⚠
- p.Gly173Cys Single submitter ⚠
- p.Gly173Ser Single submitter ⚠
- p.His5Gln Single submitter ⚠
- p.His9Tyr Single submitter ⚠
- p.Ile13Thr Single submitter ⚠
- p.Ile77Thr Single submitter ⚠
- p.Ile78Phe Single submitter ⚠
- p.Leu151Met Single submitter ⚠
- p.Leu83Met Single submitter ⚠
- p.Lys138Asn Single submitter ⚠
- p.Lys225Asn Single submitter ⚠
- p.Lys28Gln Single submitter ⚠
- p.Met106Leu Single submitter ⚠
- p.Met109Thr Single submitter
- p.Met167Ile Single submitter ⚠
- p.Met234Thr Single submitter ⚠
- p.Phe117Leu Single submitter ⚠
- p.Phe186Ile Single submitter ⚠
- p.Phe186Leu Single submitter ⚠
- p.Phe244Leu Single submitter ⚠
- p.Phe304Leu Single submitter ⚠
- p.Phe82Leu Single submitter ⚠
- p.Pro291Ser Single submitter ⚠
- p.Pro299Ser Single submitter ⚠
- p.Pro302Ser Single submitter ⚠
- p.Ser214Arg Single submitter ⚠
- p.Ser271Leu Single submitter ⚠
- p.Ser354Arg Single submitter ⚠
- p.Ser356Thr Single submitter ⚠
- p.Thr155Ile Single submitter ⚠
- p.Thr185Ile Single submitter ⚠
- p.Thr260Pro Single submitter
- p.Thr263Met Single submitter ⚠
- p.Trp188Cys Single submitter ⚠
- p.Tyr87Ser Single submitter ⚠
- p.Val160Ile Single submitter ⚠
- p.Val239Ile Single submitter ⚠
- p.Val248Leu Single submitter ⚠
- p.Val272Ala Single submitter ⚠
- p.Val292Met Single submitter ⚠