BLOC1S1 — 28 ClinVar variants
All ClinVar germline BLOC1S1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 27 flagged for review →
28 Uncertain significance
Full BLOC1S1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 27
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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BLOC1S1 p.Ala139Glu Uncertain significance Single submitter
- BLOC1S1 p.Ala2Pro Uncertain significance Single submitter
- BLOC1S1 p.Arg127Gln Uncertain significance Single submitter
- BLOC1S1 p.Arg13Trp Uncertain significance Single submitter
- BLOC1S1 p.Arg16Ser Uncertain significance Single submitter
- BLOC1S1 p.Arg51Lys Uncertain significance Single submitter
- BLOC1S1 p.Arg6Pro Uncertain significance Single submitter
- BLOC1S1 p.Arg9His Uncertain significance Single submitter
- BLOC1S1 p.Asn42Lys Uncertain significance Single submitter
- BLOC1S1 p.Asn71Ile Uncertain significance Single submitter
- BLOC1S1 p.Gln24His Uncertain significance Single submitter
- BLOC1S1 p.Glu130Gln Uncertain significance Single submitter
- BLOC1S1 p.Glu8Gly Uncertain significance Single submitter
- BLOC1S1 p.Gly7Asp Uncertain significance Single submitter
- BLOC1S1 p.His86Arg Uncertain significance Single submitter
- BLOC1S1 p.Ile136Thr Uncertain significance Single submitter
- BLOC1S1 p.Leu148Val Uncertain significance Single submitter
- BLOC1S1 p.Pro18Leu Uncertain significance Single submitter
- BLOC1S1 p.Pro25Leu Uncertain significance Single submitter
- BLOC1S1 p.Pro3Leu Uncertain significance Single submitter
- BLOC1S1 p.Thr102Ser Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- BLOC1S1 p.Ala115Ser Uncertain significance Single submitter
- BLOC1S1 p.Ala55Val Uncertain significance Single submitter
- BLOC1S1 p.Arg134Cys Uncertain significance Single submitter
- BLOC1S1 p.Arg134His Uncertain significance Single submitter
- BLOC1S1 p.Arg32Cys Uncertain significance Single submitter
- BLOC1S1 p.Val88Met Uncertain significance Single submitter
All BLOC1S1 variants
Uncertain significance 28
- p.Ala115Ser Single submitter ⚠
- p.Ala139Glu Single submitter ⚠
- p.Ala2Pro Single submitter ⚠
- p.Ala55Val Single submitter ⚠
- p.Arg127Gln Single submitter ⚠
- p.Arg134Cys Single submitter ⚠
- p.Arg134His Single submitter ⚠
- p.Arg13Trp Single submitter ⚠
- p.Arg16Ser Single submitter ⚠
- p.Arg32Cys Single submitter ⚠
- p.Arg51Lys Single submitter ⚠
- p.Arg6Pro Single submitter ⚠
- p.Arg9His Single submitter ⚠
- p.Asn42Lys Single submitter ⚠
- p.Asn71Ile Single submitter ⚠
- p.Gln24His Single submitter ⚠
- p.Glu130Gln Single submitter ⚠
- p.Glu8Gly Single submitter ⚠
- p.Gly7Asp Single submitter ⚠
- p.His86Arg Single submitter ⚠
- p.Ile129Met Single submitter
- p.Ile136Thr Single submitter ⚠
- p.Leu148Val Single submitter ⚠
- p.Pro18Leu Single submitter ⚠
- p.Pro25Leu Single submitter ⚠
- p.Pro3Leu Single submitter ⚠
- p.Thr102Ser Single submitter ⚠
- p.Val88Met Single submitter ⚠