HBS1L — 72 ClinVar variants
All ClinVar germline HBS1L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 64 flagged for review →
3 Benign · 2 Likely benign · 67 Uncertain significance
Full HBS1L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 64
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 52
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- HBS1L p.Ala362Val Uncertain significance Single submitter
- HBS1L p.Ala641Thr Uncertain significance Single submitter
- HBS1L p.Arg124Thr Uncertain significance Single submitter
- HBS1L p.Arg373Gly Uncertain significance Single submitter
- HBS1L p.Arg387Gln Uncertain significance Single submitter
- HBS1L p.Arg394Cys Uncertain significance Single submitter
- HBS1L p.Arg45His Uncertain significance Single submitter
- HBS1L p.Arg519Gln Uncertain significance Single submitter
- HBS1L p.Asn589Ser Uncertain significance Single submitter
- HBS1L p.Asn66Ser Uncertain significance Single submitter
- HBS1L p.Asp111Asn Uncertain significance Single submitter
- HBS1L p.Asp207Asn Uncertain significance Single submitter
- HBS1L p.Asp370Gly Uncertain significance Single submitter
- HBS1L p.Asp542Asn Uncertain significance Single submitter
- HBS1L p.Asp548Asn Uncertain significance Single submitter
- HBS1L p.Asp94Asn Uncertain significance Single submitter
- HBS1L p.Cys469Tyr Uncertain significance Single submitter
- HBS1L p.Cys566Tyr Uncertain significance Single submitter
- HBS1L p.Gln113His Uncertain significance Single submitter
- HBS1L p.Gln172Arg Uncertain significance Single submitter
- HBS1L p.Gly285Arg Uncertain significance Single submitter
- HBS1L p.Gly570Asp Uncertain significance Single submitter
- HBS1L p.His603Arg Uncertain significance Single submitter
- HBS1L p.Ile199Thr Uncertain significance Single submitter
- HBS1L p.Ile340Thr Uncertain significance Single submitter
- HBS1L p.Ile356Asn Uncertain significance Single submitter
- HBS1L p.Leu261Phe Uncertain significance Single submitter
- HBS1L p.Leu276Pro Uncertain significance Single submitter
- HBS1L p.Leu642Val Uncertain significance Single submitter
- HBS1L p.Lys114Thr Uncertain significance Single submitter
- HBS1L p.Lys131Arg Uncertain significance Single submitter
- HBS1L p.Lys424Glu Uncertain significance Single submitter
- HBS1L p.Pro146Ala Uncertain significance Single submitter
- HBS1L p.Pro193Leu Uncertain significance Single submitter
- HBS1L p.Pro524Ser Uncertain significance Single submitter
- HBS1L p.Pro571Leu Uncertain significance Single submitter
- HBS1L p.Ser117Leu Uncertain significance Single submitter
- HBS1L p.Ser183Tyr Uncertain significance Single submitter
- HBS1L p.Ser69Pro Uncertain significance Single submitter
- HBS1L p.Thr151Ile Uncertain significance Single submitter
- HBS1L p.Thr337Ala Uncertain significance Single submitter
- HBS1L p.Thr579Ile Uncertain significance Single submitter
- HBS1L p.Tyr58Cys Uncertain significance Single submitter
- HBS1L p.Tyr58Ser Uncertain significance Single submitter
- HBS1L p.Val105Ala Uncertain significance Single submitter
- HBS1L p.Val162Ile Uncertain significance Single submitter
- HBS1L p.Val167Ile Uncertain significance Single submitter
- HBS1L p.Val366Ile Uncertain significance Single submitter
- HBS1L p.Val50Ile Uncertain significance Single submitter
- HBS1L p.Val53Met Uncertain significance Single submitter
- HBS1L p.Val550Ile Uncertain significance Single submitter
- HBS1L p.Val619Ile Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- HBS1L p.Arg254Gln Uncertain significance Single submitter
- HBS1L p.Arg80His Uncertain significance Single submitter
- HBS1L p.Asn11Lys Uncertain significance Single submitter
- HBS1L p.Asp485Gly Uncertain significance Single submitter
- HBS1L p.Asp494His Uncertain significance Single submitter
- HBS1L p.Asp98Gly Uncertain significance Single submitter
- HBS1L p.Gly426Glu Uncertain significance Single submitter
- HBS1L p.Leu283Arg Uncertain significance Single submitter
- HBS1L p.Met292Val Uncertain significance Single submitter
- HBS1L p.Phe496Val Uncertain significance Single submitter
- HBS1L p.Ser33Leu Uncertain significance Single submitter
- HBS1L p.Thr624Met Uncertain significance Single submitter
All HBS1L variants
Benign 3
- c.2043+5T>G Single submitter
- p.Gln150His Single submitter
- p.Val147Ile Single submitter
Uncertain significance 67
- p.Ala115Val Single submitter
- p.Ala362Val Single submitter ⚠
- p.Ala641Thr Single submitter ⚠
- p.Arg124Thr Single submitter ⚠
- p.Arg254Gln Single submitter ⚠
- p.Arg373Gly Single submitter ⚠
- p.Arg387Gln Single submitter ⚠
- p.Arg394Cys Single submitter ⚠
- p.Arg45His Single submitter ⚠
- p.Arg519Gln Single submitter ⚠
- p.Arg80His Single submitter ⚠
- p.Asn11Lys Single submitter ⚠
- p.Asn589Ser Single submitter ⚠
- p.Asn66Ser Single submitter ⚠
- p.Asp111Asn Single submitter ⚠
- p.Asp207Asn Single submitter ⚠
- p.Asp370Gly Single submitter ⚠
- p.Asp485Gly Single submitter ⚠
- p.Asp494His Single submitter ⚠
- p.Asp542Asn Single submitter ⚠
- p.Asp548Asn Single submitter ⚠
- p.Asp94Asn Single submitter ⚠
- p.Asp98Gly Single submitter ⚠
- p.Cys469Tyr Single submitter ⚠
- p.Cys566Tyr Single submitter ⚠
- p.Gln113His Single submitter ⚠
- p.Gln172Arg Single submitter ⚠
- p.Gly285Arg Single submitter ⚠
- p.Gly426Glu Single submitter ⚠
- p.Gly570Asp Single submitter ⚠
- p.His603Arg Single submitter ⚠
- p.Ile199Thr Single submitter ⚠
- p.Ile340Phe Single submitter
- p.Ile340Thr Single submitter ⚠
- p.Ile356Asn Single submitter ⚠
- p.Leu261Phe Single submitter ⚠
- p.Leu276Pro Single submitter ⚠
- p.Leu283Arg Single submitter ⚠
- p.Leu642Val Single submitter ⚠
- p.Lys114Thr Single submitter ⚠
- p.Lys131Arg Single submitter ⚠
- p.Lys424Glu Single submitter ⚠
- p.Met292Val Single submitter ⚠
- p.Phe496Val Single submitter ⚠
- p.Pro146Ala Single submitter ⚠
- p.Pro160Arg Single submitter
- p.Pro193Leu Single submitter ⚠
- p.Pro524Ser Single submitter ⚠
- p.Pro571Leu Single submitter ⚠
- p.Ser117Leu Single submitter ⚠
- p.Ser183Tyr Single submitter ⚠
- p.Ser33Leu Single submitter ⚠
- p.Ser69Pro Single submitter ⚠
- p.Thr151Ile Single submitter ⚠
- p.Thr337Ala Single submitter ⚠
- p.Thr579Ile Single submitter ⚠
- p.Thr624Met Single submitter ⚠
- p.Tyr58Cys Single submitter ⚠
- p.Tyr58Ser Single submitter ⚠
- p.Val105Ala Single submitter ⚠
- p.Val162Ile Single submitter ⚠
- p.Val167Ile Single submitter ⚠
- p.Val366Ile Single submitter ⚠
- p.Val50Ile Single submitter ⚠
- p.Val53Met Single submitter ⚠
- p.Val550Ile Single submitter ⚠
- p.Val619Ile Single submitter ⚠