BLOC1S6 — 204 ClinVar variants
All ClinVar germline BLOC1S6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 63 flagged for review →
15 Pathogenic · 2 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 3 Conflicting · 14 Benign · 2 Benign/Likely benign · 83 Likely benign · 77 Uncertain significance
Full BLOC1S6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 63
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
BLOC1S6 p.Ile44Val
Conflicting
Single submitter
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Met98Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 33
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
BLOC1S6 p.Asp35Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BLOC1S6 p.Glu157Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BLOC1S6 p.Gly23Glu
Uncertain significance
Multiple submitters
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Gly5Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BLOC1S6 p.Ile44Thr
Uncertain significance
Multiple submitters
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Leu61Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BLOC1S6 p.Pro16Leu
Uncertain significance
Multiple submitters
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Pro27Ser
Uncertain significance
Multiple submitters
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Ala166Ser
Uncertain significance
Single submitter
BLOC1S6-related disorder
-
BLOC1S6 p.Ala169Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLOC1S6 p.Ala53Thr
Uncertain significance
Single submitter
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Asn117Ser
Uncertain significance
Single submitter
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Gln51Arg
Uncertain significance
Single submitter
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Gln69Glu
Uncertain significance
Single submitter
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Glu24Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLOC1S6 p.Glu86Gly
Uncertain significance
Single submitter
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Gly11Arg
Uncertain significance
Single submitter
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Gly28Arg
Uncertain significance
Single submitter
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Gly37Arg
Uncertain significance
Single submitter
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Gly37Glu
Uncertain significance
Single submitter
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Gly5Glu
Uncertain significance
Single submitter
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.His110Gln
Uncertain significance
Single submitter
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Ile39Val
Uncertain significance
Single submitter
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Leu42Ser
Uncertain significance
Single submitter
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Leu71Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLOC1S6 p.Leu81Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLOC1S6 p.Lys145Arg
Uncertain significance
Single submitter
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Pro34Arg
Uncertain significance
Single submitter
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Pro9Ser
Uncertain significance
Single submitter
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Ser130Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLOC1S6 p.Ser30Arg
Uncertain significance
Single submitter
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Thr75Ile
Uncertain significance
Single submitter
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Tyr111Cys
Uncertain significance
Single submitter
Hermansky-Pudlak syndrome 9
Predictors split 28
The independent predictors disagree with each other — read with care.
-
BLOC1S6 p.Arg154Gln
Uncertain significance
Multiple submitters
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Arg15Trp
Uncertain significance
Multiple submitters
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Arg167Ser
Uncertain significance
Multiple submitters
autoinflammatory syndrome
-
BLOC1S6 p.Glu107Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BLOC1S6 p.Lys131Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BLOC1S6 p.Lys170Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BLOC1S6 p.Phe105Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
BLOC1S6 p.Ala169Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLOC1S6 p.Ala48Ser
Uncertain significance
Single submitter
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Arg167Thr
Uncertain significance
Single submitter
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Arg66Gly
Uncertain significance
Single submitter
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Asn102Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLOC1S6 p.Asn117Ile
Uncertain significance
Single submitter
Hermansky-Pudlak syndrome 9
- BLOC1S6 p.Asn77Lys Uncertain significance Single submitter
-
BLOC1S6 p.Asp63Asn
Uncertain significance
Single submitter
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Asp63Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLOC1S6 p.Gln65Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLOC1S6 p.Glu151Val
Uncertain significance
Single submitter
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.His96Tyr
Uncertain significance
Single submitter
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Leu74Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLOC1S6 p.Lys120Gln
Uncertain significance
Single submitter
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Lys128Gln
Uncertain significance
Single submitter
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Lys145Glu
Uncertain significance
Single submitter
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Pro168Leu
Uncertain significance
Single submitter
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Ser58Cys
Uncertain significance
Single submitter
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Ser90Leu
Uncertain significance
Single submitter
Hermansky-Pudlak syndrome 9
-
BLOC1S6 p.Ser97Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
BLOC1S6 p.Ser97Pro
Uncertain significance
Single submitter
Hermansky-Pudlak syndrome 9
All BLOC1S6 variants
Pathogenic 15
- p.His112fs Multiple submitters Hermansky-Pudlak syndrome
- c.224+1G>A Single submitter Hermansky-Pudlak syndrome 9
- p.Ala12fs Single submitter Hermansky-Pudlak syndrome 9
- p.Ala53fs Single submitter Hermansky-Pudlak syndrome 9
- p.Gln69Ter Single submitter Hermansky-Pudlak syndrome 9
- p.Gln78Ter Single submitter Hermansky-Pudlak syndrome 9
- p.Glu88fs Single submitter Hermansky-Pudlak syndrome 9
- p.Leu82Ter Single submitter Hermansky-Pudlak syndrome 9
- p.Leu99Ter Single submitter Hermansky-Pudlak syndrome 9
- p.Lys68fs Single submitter Hermansky-Pudlak syndrome 9
- p.Ser30fs Single submitter Hermansky-Pudlak syndrome 9
- p.Ser8fs Single submitter Hermansky-Pudlak syndrome 9
- p.Glu50Ter No assertion criteria Hermansky-Pudlak syndrome 9
- p.His96fs No assertion criteria Hermansky-Pudlak syndrome 9
- p.Ile118fs No assertion criteria Hermansky-Pudlak syndrome 9
Pathogenic/Likely pathogenic 2
- p.Glu107fs Multiple submitters Hermansky-Pudlak syndrome 9
- p.Ser67Ter Multiple submitters Hermansky-Pudlak syndrome 9
Likely pathogenic 8
- c.312+1G>T Single submitter Hermansky-Pudlak syndrome 9
- c.313-1G>A Single submitter Hermansky-Pudlak syndrome 9
- c.82+1_82+8del Single submitter Hermansky-Pudlak syndrome 9
- c.82+1G>A Single submitter Hermansky-Pudlak syndrome 9
- c.82+1G>T Single submitter Hermansky-Pudlak syndrome 9
- c.83-1G>A Single submitter Hermansky-Pudlak syndrome 9
- p.Glu107Met Single submitter Hermansky-Pudlak syndrome 9
- p.Gly11fs Single submitter Hermansky-Pudlak syndrome 9
Conflicting classifications of pathogenicity 3
- p.Ile44Val Single submitter Hermansky-Pudlak syndrome 9 ⚠
- p.Met98Ile Single submitter Inborn genetic diseases ⚠
- p.Tyr111fs Single submitter Hermansky-Pudlak syndrome
Benign 14
- c.224+17C>A Multiple submitters Hermansky-Pudlak syndrome 9
- c.224+52C>T Multiple submitters
- c.400-8dup Multiple submitters Hermansky-Pudlak syndrome 9
- c.82+280T>C Multiple submitters
- c.*171A>T Multiple submitters
- c.224+16dup Single submitter Hermansky-Pudlak syndrome 9
- c.224+205C>T Single submitter
- c.224+48G>T Single submitter
- c.313-11dup Single submitter Hermansky-Pudlak syndrome 9
- c.399+73del Single submitter
- c.400-8del Single submitter Hermansky-Pudlak syndrome 9
- c.400-95A>G Single submitter
- c.82+175A>G Single submitter
- c.*188T>C Single submitter
Benign/Likely benign 2
- c.82+10A>G Multiple submitters Hermansky-Pudlak syndrome 9
- p.Ala12Thr Multiple submitters Hermansky-Pudlak syndrome 9
Likely benign 83
- c.313-9C>T Multiple submitters Hermansky-Pudlak syndrome 9
- c.399+137G>A Multiple submitters
- p.Ala106= Multiple submitters Hermansky-Pudlak syndrome 9
- p.Ala22= Multiple submitters Hermansky-Pudlak syndrome 9
- p.Ala48= Multiple submitters Hermansky-Pudlak syndrome 9
- p.Thr84= Multiple submitters Hermansky-Pudlak syndrome 9
- c.224+10T>C Single submitter Hermansky-Pudlak syndrome 9
- c.224+11A>G Single submitter Hermansky-Pudlak syndrome 9
- c.224+15A>C Single submitter Hermansky-Pudlak syndrome 9
- c.224+17C>T Single submitter Hermansky-Pudlak syndrome 9
- c.224+18C>A Single submitter Hermansky-Pudlak syndrome 9
- c.224+18C>G Single submitter Hermansky-Pudlak syndrome 9
- c.224+20G>C Single submitter Hermansky-Pudlak syndrome 9
- c.225-13G>A Single submitter Hermansky-Pudlak syndrome 9
- c.225-16T>C Single submitter Hermansky-Pudlak syndrome 9
- c.225-17G>A Single submitter Hermansky-Pudlak syndrome 9
- c.225-19C>T Single submitter Hermansky-Pudlak syndrome 9
- c.225-260A>G Single submitter
- c.225-4dup Single submitter Hermansky-Pudlak syndrome 9
- c.312+17T>A Single submitter Hermansky-Pudlak syndrome 9
- c.312+7A>G Single submitter Hermansky-Pudlak syndrome 9
- c.313-17T>G Single submitter Hermansky-Pudlak syndrome 9
- c.313-7T>C Single submitter Hermansky-Pudlak syndrome 9
- c.399+10A>G Single submitter Hermansky-Pudlak syndrome 9
- c.399+13T>A Single submitter Hermansky-Pudlak syndrome 9
- c.399+14T>G Single submitter Hermansky-Pudlak syndrome 9
- c.399+18dup Single submitter Hermansky-Pudlak syndrome 9
- c.399+73dup Single submitter
- c.400-13T>C Single submitter Hermansky-Pudlak syndrome 9
- c.400-16T>A Single submitter Hermansky-Pudlak syndrome 9
- c.400-17T>A Single submitter Hermansky-Pudlak syndrome 9
- c.400-5C>T Single submitter Hermansky-Pudlak syndrome 9
- c.400-6A>C Single submitter Hermansky-Pudlak syndrome 9
- c.400-6dup Single submitter Hermansky-Pudlak syndrome 9
- c.400-7A>G Single submitter Hermansky-Pudlak syndrome 9
- c.82+11T>C Single submitter Hermansky-Pudlak syndrome 9
- c.82+12C>G Single submitter Hermansky-Pudlak syndrome 9
- c.82+14G>T Single submitter Hermansky-Pudlak syndrome 9
- c.82+8C>G Single submitter Hermansky-Pudlak syndrome 9
- c.82+9_82+12del Single submitter Hermansky-Pudlak syndrome 9
- c.83-18G>T Single submitter Hermansky-Pudlak syndrome 9
- c.83-45del Single submitter
- p.Ala103= Single submitter Hermansky-Pudlak syndrome 9
- p.Ala12= Single submitter Hermansky-Pudlak syndrome 9
- p.Ala136= Single submitter Hermansky-Pudlak syndrome 9
- p.Ala169= Single submitter Hermansky-Pudlak syndrome 9
- p.Ala70= Single submitter Hermansky-Pudlak syndrome 9
- p.Arg15= Single submitter Hermansky-Pudlak syndrome 9
- p.Arg66= Single submitter Hermansky-Pudlak syndrome 9
- p.Asp41= Single submitter Hermansky-Pudlak syndrome 9
- p.Asp83= Single submitter Hermansky-Pudlak syndrome 9
- p.Glu21= Single submitter Hermansky-Pudlak syndrome 9
- p.Glu24= Single submitter Hermansky-Pudlak syndrome 9
- p.Glu88= Single submitter Hermansky-Pudlak syndrome 9
- p.Glu94= Single submitter Hermansky-Pudlak syndrome 9
- p.Gly11= Single submitter Hermansky-Pudlak syndrome 9
- p.Gly23= Single submitter Hermansky-Pudlak syndrome 9
- p.Leu115= Single submitter Hermansky-Pudlak syndrome 9
- p.Leu123= Single submitter Hermansky-Pudlak syndrome 9
- p.Leu13= Single submitter Hermansky-Pudlak syndrome 9
- p.Leu139= Single submitter Hermansky-Pudlak syndrome 9
- p.Leu57= Single submitter Hermansky-Pudlak syndrome 9
- p.Leu71= Single submitter Hermansky-Pudlak syndrome 9
- p.Leu85= Single submitter Hermansky-Pudlak syndrome 9
- p.Lys109= Single submitter Hermansky-Pudlak syndrome 9
- p.Lys128= Single submitter Hermansky-Pudlak syndrome 9
- p.Lys156= Single submitter Hermansky-Pudlak syndrome 9
- p.Lys47= Single submitter Hermansky-Pudlak syndrome 9
- p.Met172Thr Single submitter Inborn genetic diseases
- p.Pro16= Single submitter Hermansky-Pudlak syndrome 9
- p.Pro17= Single submitter Hermansky-Pudlak syndrome 9
- p.Pro25= Single submitter Hermansky-Pudlak syndrome 9
- p.Pro62= Single submitter Hermansky-Pudlak syndrome 9
- p.Ser130= Single submitter Hermansky-Pudlak syndrome 9
- p.Ser58= Single submitter Hermansky-Pudlak syndrome 9
- p.Ser67= Single submitter Hermansky-Pudlak syndrome 9
- p.Ser7= Single submitter Hermansky-Pudlak syndrome 9
- p.Ser8= Single submitter Hermansky-Pudlak syndrome 9
- p.Thr129= Single submitter Hermansky-Pudlak syndrome 9
- p.Thr26= Single submitter Hermansky-Pudlak syndrome 9
- p.Val49= Single submitter Hermansky-Pudlak syndrome 9
- p.Val80= Single submitter Hermansky-Pudlak syndrome 9
- c.82+279A>G No assertion criteria BLOC1S6-related disorder
Uncertain significance 77
- p.Arg154Gln Multiple submitters Hermansky-Pudlak syndrome 9 ⚠
- p.Arg154Ter Multiple submitters Hermansky-Pudlak syndrome 9
- p.Arg15Trp Multiple submitters Hermansky-Pudlak syndrome 9 ⚠
- p.Arg167Ser Multiple submitters autoinflammatory syndrome ⚠
- p.Asp35Asn Multiple submitters Inborn genetic diseases ⚠
- p.Gln141Ter Multiple submitters Hermansky-Pudlak syndrome 9
- p.Glu107Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu157Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly23Glu Multiple submitters Hermansky-Pudlak syndrome 9 ⚠
- p.Gly5Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile44Thr Multiple submitters Hermansky-Pudlak syndrome 9 ⚠
- p.Leu61Trp Multiple submitters Inborn genetic diseases ⚠
- p.Lys131Glu Multiple submitters Inborn genetic diseases ⚠
- p.Lys170Glu Multiple submitters Inborn genetic diseases ⚠
- p.Phe105Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro16Leu Multiple submitters Hermansky-Pudlak syndrome 9 ⚠
- p.Pro27Ser Multiple submitters Hermansky-Pudlak syndrome 9 ⚠
- c.225-14_225-13insA Single submitter Hermansky-Pudlak syndrome 9
- c.313-15T>G Single submitter
- c.313-3A>T Single submitter Hermansky-Pudlak syndrome 9
- c.82+12C>T Single submitter Hermansky-Pudlak syndrome 9
- c.82+17G>A Single submitter Hermansky-Pudlak syndrome 9
- c.82+4C>G Single submitter Hermansky-Pudlak syndrome 9
- c.82+6del Single submitter Hermansky-Pudlak syndrome 9
- c.*2818ACAA[4] Single submitter
- p.Ala166Ser Single submitter BLOC1S6-related disorder ⚠
- p.Ala169Asp Single submitter Inborn genetic diseases ⚠
- p.Ala169Val Single submitter Inborn genetic diseases ⚠
- p.Ala48Ser Single submitter Hermansky-Pudlak syndrome 9 ⚠
- p.Ala53Thr Single submitter Hermansky-Pudlak syndrome 9 ⚠
- p.Arg160fs Single submitter
- p.Arg167Thr Single submitter Hermansky-Pudlak syndrome 9 ⚠
- p.Arg66Gly Single submitter Hermansky-Pudlak syndrome 9 ⚠
- p.Asn102Thr Single submitter Inborn genetic diseases ⚠
- p.Asn117Ile Single submitter Hermansky-Pudlak syndrome 9 ⚠
- p.Asn117Ser Single submitter Hermansky-Pudlak syndrome 9 ⚠
- p.Asn77Lys Single submitter ⚠
- p.Asp63Asn Single submitter Hermansky-Pudlak syndrome 9 ⚠
- p.Asp63Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln51Arg Single submitter Hermansky-Pudlak syndrome 9 ⚠
- p.Gln65Glu Single submitter Inborn genetic diseases ⚠
- p.Gln69Glu Single submitter Hermansky-Pudlak syndrome 9 ⚠
- p.Glu151Val Single submitter Hermansky-Pudlak syndrome 9 ⚠
- p.Glu24Ala Single submitter Inborn genetic diseases ⚠
- p.Glu40= Single submitter Hermansky-Pudlak syndrome 9
- p.Glu86Gly Single submitter Hermansky-Pudlak syndrome 9 ⚠
- p.Gly11Arg Single submitter Hermansky-Pudlak syndrome 9 ⚠
- p.Gly28Arg Single submitter Hermansky-Pudlak syndrome 9 ⚠
- p.Gly37Arg Single submitter Hermansky-Pudlak syndrome 9 ⚠
- p.Gly37Glu Single submitter Hermansky-Pudlak syndrome 9 ⚠
- p.Gly5Glu Single submitter Hermansky-Pudlak syndrome 9 ⚠
- p.His110Gln Single submitter Hermansky-Pudlak syndrome 9 ⚠
- p.His96Tyr Single submitter Hermansky-Pudlak syndrome 9 ⚠
- p.Ile39Val Single submitter Hermansky-Pudlak syndrome 9 ⚠
- p.Leu164fs Single submitter Hermansky-Pudlak syndrome 9
- p.Leu42Ser Single submitter Hermansky-Pudlak syndrome 9 ⚠
- p.Leu71fs Single submitter
- p.Leu71Phe Single submitter Inborn genetic diseases ⚠
- p.Leu74Val Single submitter Inborn genetic diseases ⚠
- p.Leu81Phe Single submitter Inborn genetic diseases ⚠
- p.Lys120fs Single submitter Hermansky-Pudlak syndrome 9
- p.Lys120Gln Single submitter Hermansky-Pudlak syndrome 9 ⚠
- p.Lys128Gln Single submitter Hermansky-Pudlak syndrome 9 ⚠
- p.Lys145Arg Single submitter Hermansky-Pudlak syndrome 9 ⚠
- p.Lys145Glu Single submitter Hermansky-Pudlak syndrome 9 ⚠
- p.Met1Ile Single submitter Hermansky-Pudlak syndrome 9
- p.Pro168Leu Single submitter Hermansky-Pudlak syndrome 9 ⚠
- p.Pro34Arg Single submitter Hermansky-Pudlak syndrome 9 ⚠
- p.Pro9Ser Single submitter Hermansky-Pudlak syndrome 9 ⚠
- p.Ser130Ala Single submitter Inborn genetic diseases ⚠
- p.Ser30Arg Single submitter Hermansky-Pudlak syndrome 9 ⚠
- p.Ser58Cys Single submitter Hermansky-Pudlak syndrome 9 ⚠
- p.Ser90Leu Single submitter Hermansky-Pudlak syndrome 9 ⚠
- p.Ser97Phe Single submitter Inborn genetic diseases ⚠
- p.Ser97Pro Single submitter Hermansky-Pudlak syndrome 9 ⚠
- p.Thr75Ile Single submitter Hermansky-Pudlak syndrome 9 ⚠
- p.Tyr111Cys Single submitter Hermansky-Pudlak syndrome 9 ⚠