BLOC1S3 — 185 ClinVar variants
All ClinVar germline BLOC1S3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 83 flagged for review →
4 Pathogenic · 6 Conflicting · 7 Benign · 4 Benign/Likely benign · 76 Likely benign · 88 Uncertain significance
Full BLOC1S3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 83
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 agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
BLOC1S3 p.Ala31Val
Conflicting
Single submitter
BLOC1S3-related disorder
-
BLOC1S3 p.Arg29Leu
Conflicting
Single submitter
Inborn genetic diseases
-
BLOC1S3 p.Arg29Pro
Conflicting
Single submitter
Inborn genetic diseases
- BLOC1S3 p.Val139Leu Conflicting Single submitter
-
BLOC1S3 p.Val160Leu
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
BLOC1S3 p.Ala169Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BLOC1S3 p.Arg106Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BLOC1S3 p.Arg112Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BLOC1S3 p.Asp197His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BLOC1S3 p.Gln150Arg
Uncertain significance
Multiple submitters
Hermansky-Pudlak syndrome 8
-
BLOC1S3 p.Gly188Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BLOC1S3 p.Gly45Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BLOC1S3 p.Leu111Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BLOC1S3 p.Pro200Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BLOC1S3 p.Ser129Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- BLOC1S3 p.Val189Leu Uncertain significance Multiple submitters
- BLOC1S3 p.Ala135Pro Uncertain significance Single submitter
-
BLOC1S3 p.Ala31Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- BLOC1S3 p.Ala61Thr Uncertain significance Single submitter
- BLOC1S3 p.Ala76Glu Uncertain significance Single submitter
- BLOC1S3 p.Arg161Leu Uncertain significance Single submitter
- BLOC1S3 p.Arg29His Uncertain significance Single submitter
- BLOC1S3 p.Asp64Tyr Uncertain significance Single submitter
-
BLOC1S3 p.Glu193Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLOC1S3 p.Glu92Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- BLOC1S3 p.His122Arg Uncertain significance Single submitter
-
BLOC1S3 p.Leu174Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- BLOC1S3 p.Leu80Gln Uncertain significance Single submitter
-
BLOC1S3 p.Pro10Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- BLOC1S3 p.Pro198Leu Uncertain significance Single submitter
- BLOC1S3 p.Pro19Leu Uncertain significance Single submitter
- BLOC1S3 p.Pro43Ser Uncertain significance Single submitter
-
BLOC1S3 p.Ser34Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLOC1S3 p.Thr52Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- BLOC1S3 p.Val131Ala Uncertain significance Single submitter
Predictors split 48
The independent predictors disagree with each other — read with care.
-
BLOC1S3 p.Ala103Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BLOC1S3 p.Arg112Leu
Uncertain significance
Multiple submitters
Hermansky-Pudlak syndrome 8
- BLOC1S3 p.Gly42Cys Uncertain significance Multiple submitters
-
BLOC1S3 p.Pro104Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BLOC1S3 p.Pro71Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- BLOC1S3 p.Ser30Cys Uncertain significance Multiple submitters
-
BLOC1S3 p.Ser33Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BLOC1S3 p.Val18Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- BLOC1S3 p.Ala118Val Uncertain significance Single submitter
-
BLOC1S3 p.Ala141Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- BLOC1S3 p.Ala143Val Uncertain significance Single submitter
- BLOC1S3 p.Ala147Val Uncertain significance Single submitter
- BLOC1S3 p.Ala151Val Likely benign Single submitter
-
BLOC1S3 p.Ala163Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- BLOC1S3 p.Ala171Val Uncertain significance Single submitter
-
BLOC1S3 p.Ala2Val
Uncertain significance
Single submitter
Inborn genetic diseases
- BLOC1S3 p.Ala60Thr Uncertain significance Single submitter
-
BLOC1S3 p.Ala99Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- BLOC1S3 p.Ala99Thr Uncertain significance Single submitter
-
BLOC1S3 p.Ala99Val
Uncertain significance
Single submitter
Inborn genetic diseases
- BLOC1S3 p.Arg12Trp Uncertain significance Single submitter
- BLOC1S3 p.Arg134Pro Uncertain significance Single submitter
- BLOC1S3 p.Arg50Cys Uncertain significance Single submitter
- BLOC1S3 p.Arg6His Conflicting Single submitter
- BLOC1S3 p.Arg87Trp Uncertain significance Single submitter
- BLOC1S3 p.Asp64Asn Uncertain significance Single submitter
- BLOC1S3 p.Glu24Lys Uncertain significance Single submitter
-
BLOC1S3 p.Glu35Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLOC1S3 p.Glu68Asp
Likely benign
Single submitter
Inborn genetic diseases
- BLOC1S3 p.Glu68Lys Uncertain significance Single submitter
-
BLOC1S3 p.Glu72Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- BLOC1S3 p.Ile186Asn Uncertain significance Single submitter
- BLOC1S3 p.Ile186Phe Uncertain significance Single submitter
- BLOC1S3 p.Leu109Val Uncertain significance Single submitter
- BLOC1S3 p.Leu146Gln Uncertain significance Single submitter
- BLOC1S3 p.Leu167Phe Uncertain significance Single submitter
-
BLOC1S3 p.Pro104Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- BLOC1S3 p.Pro184Leu Uncertain significance Single submitter
- BLOC1S3 p.Pro69Leu Uncertain significance Single submitter
-
BLOC1S3 p.Pro69Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLOC1S3 p.Ser107Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLOC1S3 p.Thr192Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLOC1S3 p.Thr25Met
Uncertain significance
Single submitter
Inborn genetic diseases
- BLOC1S3 p.Thr74Met Uncertain significance Single submitter
- BLOC1S3 p.Tyr132Cys Uncertain significance Single submitter
- BLOC1S3 p.Val177Met Uncertain significance Single submitter
-
BLOC1S3 p.Leu154Met
Uncertain significance
No assertion criteria
BLOC1S3-related disorder
-
BLOC1S3 p.Ser32Tyr
Uncertain significance
No assertion criteria
BLOC1S3-related disorder
All BLOC1S3 variants
Pathogenic 4
- p.Gln150fs No assertion criteria Hermansky-Pudlak syndrome 8
- p.Leu113fs No assertion criteria Hermansky-Pudlak syndrome 8
- p.Ser129fs No assertion criteria Hermansky-Pudlak syndrome 8
- p.Ser44Ter No assertion criteria Hermansky-Pudlak syndrome 8
Conflicting classifications of pathogenicity 6
- p.Ala31Val Single submitter BLOC1S3-related disorder ⚠
- p.Arg29Leu Single submitter Inborn genetic diseases ⚠
- p.Arg29Pro Single submitter Inborn genetic diseases ⚠
- p.Arg6His Single submitter ⚠
- p.Val139Leu Single submitter ⚠
- p.Val160Leu Single submitter Inborn genetic diseases ⚠
Benign 7
Benign/Likely benign 4
- p.Arg164Cys Multiple submitters
- p.Arg164His Multiple submitters
- p.His122= Multiple submitters
- p.Leu108Val Multiple submitters
Likely benign 76
- p.Leu142= Multiple submitters
- p.Pro200= Multiple submitters
- p.Ala105= Single submitter
- p.Ala118= Single submitter
- p.Ala126= Single submitter
- p.Ala151Val Single submitter ⚠
- p.Ala156= Single submitter
- p.Ala157= Single submitter
- p.Ala163= Single submitter
- p.Ala171= Single submitter
- p.Ala2= Single submitter
- p.Ala202= Single submitter
- p.Ala22= Single submitter
- p.Ala31= Single submitter
- p.Ala60= Single submitter
- p.Ala75= Single submitter
- p.Ala76= Single submitter
- p.Ala93= Single submitter
- p.Arg12= Single submitter
- p.Arg137= Single submitter
- p.Arg164= Single submitter
- p.Arg181= Single submitter
- p.Arg29= Single submitter
- p.Arg78= Single submitter
- p.Asp121= Single submitter
- p.Asp175= Single submitter
- p.Asp79= Single submitter
- p.Gln150= Single submitter
- p.Gln86= Single submitter
- p.Glu21= Single submitter
- p.Glu24= Single submitter
- p.Glu35= Single submitter
- p.Glu59= Single submitter
- p.Glu66= Single submitter
- p.Glu68Asp Single submitter Inborn genetic diseases ⚠
- p.Glu97= Single submitter
- p.Gly153= Single submitter
- p.Gly188= Single submitter
- p.Gly191= Single submitter
- p.Gly45= Single submitter
- p.Gly58= Single submitter
- p.Gly5Ser Single submitter
- p.Gly95= Single submitter
- p.Leu108= Single submitter
- p.Leu109= Single submitter
- p.Leu11= Single submitter
- p.Leu162= Single submitter
- p.Leu39= Single submitter
- p.Leu41= Single submitter
- p.Leu54= Single submitter
- p.Leu80= Single submitter
- p.Leu83= Single submitter
- p.Pro100= Single submitter
- p.Pro102= Single submitter
- p.Pro14= Single submitter
- p.Pro190= Single submitter
- p.Pro67= Single submitter
- p.Pro71= Single submitter
- p.Pro77= Single submitter
- p.Ser107= Single submitter
- p.Ser30= Single submitter
- p.Ser32= Single submitter
- p.Ser33= Single submitter
- p.Ser65= Single submitter
- p.Ser89= Single submitter
- p.Thr16= Single submitter
- p.Thr192= Single submitter
- p.Thr23= Single submitter
- p.Thr52= Single submitter
- p.Thr96= Single submitter
- p.Tyr132= Single submitter
- p.Tyr40= Single submitter
- p.Val160= Single submitter
- p.Val189= Single submitter
- p.Val85= Single submitter
- c.-1C>T No assertion criteria BLOC1S3-related disorder
Uncertain significance 88
- p.Ala103Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala169Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg106Pro Multiple submitters Inborn genetic diseases ⚠
- p.Arg112Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg112Leu Multiple submitters Hermansky-Pudlak syndrome 8 ⚠
- p.Asp197His Multiple submitters Inborn genetic diseases ⚠
- p.Gln150Arg Multiple submitters Hermansky-Pudlak syndrome 8 ⚠
- p.Gly188Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly42Cys Multiple submitters ⚠
- p.Gly45Ser Multiple submitters Inborn genetic diseases ⚠
- p.Leu111Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro104Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro200Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro71Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser129Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ser30Cys Multiple submitters ⚠
- p.Ser33Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser34Glu Multiple submitters
- p.Val189Leu Multiple submitters ⚠
- p.Val18Met Multiple submitters Inborn genetic diseases ⚠
- p.66EP[2] Single submitter
- p.66EP[3] Single submitter
- p.66EP[5] Single submitter
- p.Ala118Val Single submitter ⚠
- p.Ala135Pro Single submitter ⚠
- p.Ala141Thr Single submitter Inborn genetic diseases ⚠
- p.Ala143Val Single submitter ⚠
- p.Ala147Val Single submitter ⚠
- p.Ala163Glu Single submitter Inborn genetic diseases ⚠
- p.Ala171Val Single submitter ⚠
- p.Ala2Val Single submitter Inborn genetic diseases ⚠
- p.Ala31Ser Single submitter Inborn genetic diseases ⚠
- p.Ala60Thr Single submitter ⚠
- p.Ala61Thr Single submitter ⚠
- p.Ala76Glu Single submitter ⚠
- p.Ala99Ser Single submitter Inborn genetic diseases ⚠
- p.Ala99Thr Single submitter ⚠
- p.Ala99Val Single submitter Inborn genetic diseases ⚠
- p.Arg12Trp Single submitter ⚠
- p.Arg134Pro Single submitter ⚠
- p.Arg145_Ala152dup Single submitter Hermansky-Pudlak syndrome
- p.Arg161Leu Single submitter ⚠
- p.Arg29His Single submitter ⚠
- p.Arg50Cys Single submitter ⚠
- p.Arg87Trp Single submitter ⚠
- p.Asp64Asn Single submitter ⚠
- p.Asp64Tyr Single submitter ⚠
- p.Gln150_Ala157del Single submitter
- p.Glu193Ala Single submitter Inborn genetic diseases ⚠
- p.Glu24Lys Single submitter ⚠
- p.Glu35Ala Single submitter Inborn genetic diseases ⚠
- p.Glu35Ser Single submitter
- p.Glu68_Pro69delinsAspSer Single submitter
- p.Glu68Lys Single submitter ⚠
- p.Glu72Gln Single submitter Inborn genetic diseases ⚠
- p.Glu92Ala Single submitter Inborn genetic diseases ⚠
- p.His122Arg Single submitter ⚠
- p.Ile186Asn Single submitter ⚠
- p.Ile186Phe Single submitter ⚠
- p.Leu109Val Single submitter ⚠
- p.Leu146Gln Single submitter ⚠
- p.Leu167Phe Single submitter ⚠
- p.Leu174Gln Single submitter Inborn genetic diseases ⚠
- p.Leu80Gln Single submitter ⚠
- p.Pro104Arg Single submitter Inborn genetic diseases ⚠
- p.Pro10Ser Single submitter Inborn genetic diseases ⚠
- p.Pro184Leu Single submitter ⚠
- p.Pro198Leu Single submitter ⚠
- p.Pro19Leu Single submitter ⚠
- p.Pro43Ser Single submitter ⚠
- p.Pro69Leu Single submitter ⚠
- p.Pro69Ser Single submitter Inborn genetic diseases ⚠
- p.Ser107Leu Single submitter Inborn genetic diseases ⚠
- p.Ser30fs Single submitter Hermansky-Pudlak syndrome 8
- p.Ser34Ala Single submitter Inborn genetic diseases ⚠
- p.Ser34del Single submitter
- p.Ser34Ter Single submitter
- p.Ser65_Glu66insGlnPro Single submitter
- p.Thr192Ile Single submitter Inborn genetic diseases ⚠
- p.Thr25Met Single submitter Inborn genetic diseases ⚠
- p.Thr52Pro Single submitter Inborn genetic diseases ⚠
- p.Thr74Met Single submitter ⚠
- p.Tyr132Cys Single submitter ⚠
- p.Val131Ala Single submitter ⚠
- p.Val177Met Single submitter ⚠
- p.Val56_Ala57insVal Single submitter
- p.Leu154Met No assertion criteria BLOC1S3-related disorder ⚠
- p.Ser32Tyr No assertion criteria BLOC1S3-related disorder ⚠