BLOC1S4 — 49 ClinVar variants
All ClinVar germline BLOC1S4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 47 flagged for review →
2 Likely benign · 47 Uncertain significance
Full BLOC1S4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 47
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- BLOC1S4 p.Ala125Gly Uncertain significance Single submitter
- BLOC1S4 p.Ala125Thr Uncertain significance Single submitter
- BLOC1S4 p.Ala25Pro Uncertain significance Single submitter
- BLOC1S4 p.Ala53Val Uncertain significance Single submitter
- BLOC1S4 p.Ala66Val Uncertain significance Single submitter
- BLOC1S4 p.Ala76Thr Uncertain significance Single submitter
- BLOC1S4 p.Ala78Val Uncertain significance Single submitter
- BLOC1S4 p.Arg120Ser Uncertain significance Single submitter
- BLOC1S4 p.Arg130Cys Uncertain significance Single submitter
- BLOC1S4 p.Arg134Thr Uncertain significance Single submitter
- BLOC1S4 p.Arg143Thr Uncertain significance Single submitter
- BLOC1S4 p.Arg148Cys Uncertain significance Single submitter
- BLOC1S4 p.Arg79Leu Uncertain significance Single submitter
- BLOC1S4 p.Asp46Asn Uncertain significance Single submitter
- BLOC1S4 p.Asp46Glu Uncertain significance Single submitter
- BLOC1S4 p.Asp46Gly Uncertain significance Single submitter
- BLOC1S4 p.Asp57Glu Uncertain significance Single submitter
- BLOC1S4 p.Asp7Val Uncertain significance Single submitter
- BLOC1S4 p.Asp86Gly Uncertain significance Single submitter
- BLOC1S4 p.Gln35Glu Uncertain significance Single submitter
- BLOC1S4 p.Glu116Gln Uncertain significance Single submitter
- BLOC1S4 p.Glu47Asp Uncertain significance Single submitter
- BLOC1S4 p.Glu50Gln Uncertain significance Single submitter
- BLOC1S4 p.Gly14Glu Uncertain significance Single submitter
- BLOC1S4 p.Gly195Ala Uncertain significance Single submitter
- BLOC1S4 p.Gly67Ala Uncertain significance Single submitter
- BLOC1S4 p.Leu11Val Uncertain significance Single submitter
- BLOC1S4 p.Met105Val Uncertain significance Single submitter
- BLOC1S4 p.Pro12Gln Uncertain significance Single submitter
- BLOC1S4 p.Pro167Leu Uncertain significance Single submitter
- BLOC1S4 p.Pro43Leu Uncertain significance Single submitter
- BLOC1S4 p.Pro54Leu Uncertain significance Single submitter
- BLOC1S4 p.Pro54Ser Uncertain significance Single submitter
- BLOC1S4 p.Ser27Gly Uncertain significance Single submitter
- BLOC1S4 p.Tyr207Cys Uncertain significance Single submitter
- BLOC1S4 p.Tyr68Ser Uncertain significance Single submitter
- BLOC1S4 p.Val118Met Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- BLOC1S4 p.Ala65Gly Uncertain significance Single submitter
- BLOC1S4 p.Arg203Trp Uncertain significance Single submitter
- BLOC1S4 p.Asp91Tyr Uncertain significance Single submitter
- BLOC1S4 p.Lys172Asn Uncertain significance Single submitter
- BLOC1S4 p.Pro119Ser Uncertain significance Single submitter
- BLOC1S4 p.Pro80Ser Uncertain significance Single submitter
- BLOC1S4 p.Ser110Leu Uncertain significance Single submitter
- BLOC1S4 p.Ser34Phe Uncertain significance Single submitter
- BLOC1S4 p.Ser38Arg Uncertain significance Single submitter
- BLOC1S4 p.Tyr132Cys Uncertain significance Single submitter
All BLOC1S4 variants
Likely benign 2
- p.Leu11Pro Single submitter
- p.Ser189Leu No assertion criteria BLOC1S4-related condition
Uncertain significance 47
- p.Ala125Gly Single submitter ⚠
- p.Ala125Thr Single submitter ⚠
- p.Ala25Pro Single submitter ⚠
- p.Ala53Val Single submitter ⚠
- p.Ala65Gly Single submitter ⚠
- p.Ala66Val Single submitter ⚠
- p.Ala76Thr Single submitter ⚠
- p.Ala78Val Single submitter ⚠
- p.Arg120Ser Single submitter ⚠
- p.Arg130Cys Single submitter ⚠
- p.Arg134Thr Single submitter ⚠
- p.Arg143Thr Single submitter ⚠
- p.Arg148Cys Single submitter ⚠
- p.Arg203Trp Single submitter ⚠
- p.Arg79Leu Single submitter ⚠
- p.Asp46Asn Single submitter ⚠
- p.Asp46Glu Single submitter ⚠
- p.Asp46Gly Single submitter ⚠
- p.Asp57Glu Single submitter ⚠
- p.Asp7Val Single submitter ⚠
- p.Asp86Gly Single submitter ⚠
- p.Asp91Tyr Single submitter ⚠
- p.Gln35Glu Single submitter ⚠
- p.Glu116Gln Single submitter ⚠
- p.Glu47Asp Single submitter ⚠
- p.Glu50Gln Single submitter ⚠
- p.Gly14Glu Single submitter ⚠
- p.Gly195Ala Single submitter ⚠
- p.Gly67Ala Single submitter ⚠
- p.Leu11Val Single submitter ⚠
- p.Lys172Asn Single submitter ⚠
- p.Met105Val Single submitter ⚠
- p.Pro119Ser Single submitter ⚠
- p.Pro12Gln Single submitter ⚠
- p.Pro167Leu Single submitter ⚠
- p.Pro43Leu Single submitter ⚠
- p.Pro54Leu Single submitter ⚠
- p.Pro54Ser Single submitter ⚠
- p.Pro80Ser Single submitter ⚠
- p.Ser110Leu Single submitter ⚠
- p.Ser27Gly Single submitter ⚠
- p.Ser34Phe Single submitter ⚠
- p.Ser38Arg Single submitter ⚠
- p.Tyr132Cys Single submitter ⚠
- p.Tyr207Cys Single submitter ⚠
- p.Tyr68Ser Single submitter ⚠
- p.Val118Met Single submitter ⚠