HCLS1 — 82 ClinVar variants
All ClinVar germline HCLS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 72 flagged for review →
1 Benign · 7 Likely benign · 74 Uncertain significance
Full HCLS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 72
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 61
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HCLS1 p.Ala258Ser Uncertain significance Single submitter
- HCLS1 p.Ala262Val Uncertain significance Single submitter
- HCLS1 p.Ala428Val Uncertain significance Single submitter
- HCLS1 p.Ala479Glu Uncertain significance Single submitter
- HCLS1 p.Arg155Cys Uncertain significance Single submitter
- HCLS1 p.Arg160Gln Uncertain significance Single submitter
- HCLS1 p.Arg204Gln Uncertain significance Single submitter
- HCLS1 p.Arg268Gln Uncertain significance Single submitter
- HCLS1 p.Arg268Leu Uncertain significance Single submitter
- HCLS1 p.Arg467Gln Uncertain significance Single submitter
- HCLS1 p.Arg469Cys Uncertain significance Single submitter
- HCLS1 p.Arg48Cys Uncertain significance Single submitter
- HCLS1 p.Asn213Asp Uncertain significance Single submitter
- HCLS1 p.Asn213Ser Uncertain significance Single submitter
- HCLS1 p.Asp129Glu Uncertain significance Single submitter
- HCLS1 p.Asp203Glu Uncertain significance Single submitter
- HCLS1 p.Asp438Tyr Uncertain significance Single submitter
- HCLS1 p.Asp453Asn Uncertain significance Single submitter
- HCLS1 p.Gln266Glu Uncertain significance Single submitter
- HCLS1 p.Gln280His Uncertain significance Single submitter
- HCLS1 p.Gln36Glu Uncertain significance Single submitter
- HCLS1 p.Glu106Lys Uncertain significance Single submitter
- HCLS1 p.Glu339Lys Uncertain significance Single submitter
- HCLS1 p.Glu355Ala Uncertain significance Single submitter
- HCLS1 p.Glu402Lys Uncertain significance Single submitter
- HCLS1 p.Glu463Gln Uncertain significance Single submitter
- HCLS1 p.Gly162Arg Uncertain significance Single submitter
- HCLS1 p.Gly195Cys Uncertain significance Single submitter
- HCLS1 p.Gly211Ala Uncertain significance Single submitter
- HCLS1 p.Gly351Val Uncertain significance Single submitter
- HCLS1 p.Ile330Leu Uncertain significance Single submitter
- HCLS1 p.Ile54Thr Uncertain significance Single submitter
- HCLS1 p.Leu294Val Uncertain significance Single submitter
- HCLS1 p.Leu412Val Uncertain significance Single submitter
- HCLS1 p.Leu68Ile Uncertain significance Single submitter
- HCLS1 p.Lys118Gln Uncertain significance Single submitter
- HCLS1 p.Lys178Glu Uncertain significance Single submitter
- HCLS1 p.Lys249Asn Uncertain significance Single submitter
- HCLS1 p.Met73Ile Uncertain significance Single submitter
- HCLS1 p.Pro291Ser Uncertain significance Single submitter
- HCLS1 p.Pro326Leu Uncertain significance Single submitter
- HCLS1 p.Pro346Ser Uncertain significance Single submitter
- HCLS1 p.Pro419Arg Uncertain significance Single submitter
- HCLS1 p.Pro419Leu Uncertain significance Single submitter
- HCLS1 p.Ser186Tyr Uncertain significance Single submitter
- HCLS1 p.Ser299Phe Uncertain significance Single submitter
- HCLS1 p.Ser80Ala Uncertain significance Single submitter
- HCLS1 p.Thr225Met Uncertain significance Single submitter
- HCLS1 p.Thr272Ser Uncertain significance Single submitter
- HCLS1 p.Thr319Ser Uncertain significance Single submitter
- HCLS1 p.Thr333Ser Uncertain significance Single submitter
- HCLS1 p.Thr456Ser Uncertain significance Single submitter
- HCLS1 p.Tyr175Cys Uncertain significance Single submitter
- HCLS1 p.Tyr437His Uncertain significance Single submitter
- HCLS1 p.Val126Gly Uncertain significance Single submitter
- HCLS1 p.Val12Phe Uncertain significance Single submitter
- HCLS1 p.Val14Met Uncertain significance Single submitter
- HCLS1 p.Val205Met Uncertain significance Single submitter
- HCLS1 p.Val210Leu Uncertain significance Single submitter
- HCLS1 p.Val306Asp Uncertain significance Single submitter
- HCLS1 p.Val400Met Uncertain significance Single submitter
Predictors split 11
The independent predictors disagree with each other — read with care.
- HCLS1 p.Arg160Trp Uncertain significance Single submitter
- HCLS1 p.Arg236Cys Uncertain significance Single submitter
- HCLS1 p.Arg250Gly Uncertain significance Single submitter
- HCLS1 p.Arg252Gly Uncertain significance Single submitter
- HCLS1 p.Arg347Thr Uncertain significance Single submitter
- HCLS1 p.Arg86Trp Uncertain significance Single submitter
- HCLS1 p.Asp166Asn Likely benign Single submitter
- HCLS1 p.Glu463Lys Uncertain significance Single submitter
- HCLS1 p.His184Gln Uncertain significance Single submitter
- HCLS1 p.Tyr378Cys Uncertain significance Single submitter
- HCLS1 p.Val163Leu Uncertain significance Single submitter
All HCLS1 variants
Benign 1
- p.364PE[8] Multiple submitters
Likely benign 7
- p.Arg252Gln Single submitter
- p.Arg274Met Single submitter
- p.Asp166Asn Single submitter ⚠
- p.His184= Single submitter
- p.Leu352Phe Single submitter
- p.Val306Ala Single submitter
- p.Val67Ile Single submitter
Uncertain significance 74
- p.Ala258Ser Single submitter ⚠
- p.Ala262Val Single submitter ⚠
- p.Ala428Val Single submitter ⚠
- p.Ala479Glu Single submitter ⚠
- p.Arg155Cys Single submitter ⚠
- p.Arg160Gln Single submitter ⚠
- p.Arg160Trp Single submitter ⚠
- p.Arg204Gln Single submitter ⚠
- p.Arg236Cys Single submitter ⚠
- p.Arg250Gly Single submitter ⚠
- p.Arg252Gly Single submitter ⚠
- p.Arg268Gln Single submitter ⚠
- p.Arg268Leu Single submitter ⚠
- p.Arg347Thr Single submitter ⚠
- p.Arg467Gln Single submitter ⚠
- p.Arg469Cys Single submitter ⚠
- p.Arg48Cys Single submitter ⚠
- p.Arg86Trp Single submitter ⚠
- p.Asn213Asp Single submitter ⚠
- p.Asn213Ser Single submitter ⚠
- p.Asp129Glu Single submitter ⚠
- p.Asp203Glu Single submitter ⚠
- p.Asp203Gly Single submitter
- p.Asp438Tyr Single submitter ⚠
- p.Asp453Asn Single submitter ⚠
- p.Gln266Glu Single submitter ⚠
- p.Gln280His Single submitter ⚠
- p.Gln36Glu Single submitter ⚠
- p.Glu106Lys Single submitter ⚠
- p.Glu339Lys Single submitter ⚠
- p.Glu355Ala Single submitter ⚠
- p.Glu402Lys Single submitter ⚠
- p.Glu463Gln Single submitter ⚠
- p.Glu463Lys Single submitter ⚠
- p.Gly162Arg Single submitter ⚠
- p.Gly195Cys Single submitter ⚠
- p.Gly211Ala Single submitter ⚠
- p.Gly351Val Single submitter ⚠
- p.His184Gln Single submitter ⚠
- p.Ile330Leu Single submitter ⚠
- p.Ile54Thr Single submitter ⚠
- p.Leu294Val Single submitter ⚠
- p.Leu412Val Single submitter ⚠
- p.Leu68Ile Single submitter ⚠
- p.Lys118Gln Single submitter ⚠
- p.Lys178Glu Single submitter ⚠
- p.Lys249Asn Single submitter ⚠
- p.Lys96Thr Single submitter
- p.Met73Ile Single submitter ⚠
- p.Met94Lys Single submitter
- p.Pro291Ser Single submitter ⚠
- p.Pro326Leu Single submitter ⚠
- p.Pro346Ser Single submitter ⚠
- p.Pro419Arg Single submitter ⚠
- p.Pro419Leu Single submitter ⚠
- p.Ser186Tyr Single submitter ⚠
- p.Ser299Phe Single submitter ⚠
- p.Ser80Ala Single submitter ⚠
- p.Thr225Met Single submitter ⚠
- p.Thr272Ser Single submitter ⚠
- p.Thr319Ser Single submitter ⚠
- p.Thr333Ser Single submitter ⚠
- p.Thr456Ser Single submitter ⚠
- p.Tyr175Cys Single submitter ⚠
- p.Tyr378Cys Single submitter ⚠
- p.Tyr437His Single submitter ⚠
- p.Val126Gly Single submitter ⚠
- p.Val12Phe Single submitter ⚠
- p.Val14Met Single submitter ⚠
- p.Val163Leu Single submitter ⚠
- p.Val205Met Single submitter ⚠
- p.Val210Leu Single submitter ⚠
- p.Val306Asp Single submitter ⚠
- p.Val400Met Single submitter ⚠