HPS6 Chromosome 10
HPS6 biogenesis of lysosomal organelles complex 2 subunit 3
Upload your DNA to see your personal genotypes for variants in HPS6.
What This Gene Does
This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Biogenesis of lysosomal organelles complex 2
Locus Type
gene with protein product
Location
10q24.32
Ensembl
ENSG00000166189
Associated Conditions (4)
Hermansky-Pudlak syndrome 6
Inborn genetic diseases
HPS6-related disorder
Hermansky-Pudlak syndrome
Key Variants
RS139161525
Conflicting classifications of pathogenicity
Health Risk
RS139517839
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
Health Risk
RS139679441
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
Health Risk
RS144257610
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 6, Inborn genetic diseases, Hermansky-Pudlak syndrome 6
Health Risk
RS144777687
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
Health Risk
RS145571940
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS149692177
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
Health Risk
RS185571437
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 6, HPS6-related disorder, Hermansky-Pudlak syndrome 6
Health Risk
RS199518658
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
Health Risk
RS200681093
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 6, HPS6-related disorder, Hermansky-Pudlak syndrome 6
Health Risk
RS281865108
Conflicting classifications of pathogenicity
Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 6
Health Risk
RS369112226
Conflicting classifications of pathogenicity
Health Risk
All Variants (105)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1564899748 | Health Risk | Pathogenic | — |
| RS1564899888 | Health Risk | Pathogenic | HPS6-related disorder, HPS6-related disorder |
| RS1564899951 | Health Risk | Pathogenic | — |
| RS1590263662 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS1590263807 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS2067964057 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS2067967771 | Health Risk | Pathogenic | — |
| RS2067971306 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS2136333690 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS2136333791 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS2540985878 | Health Risk | Pathogenic | — |
| RS2540986057 | Health Risk | Pathogenic | — |
| RS2540986172 | Health Risk | Pathogenic | — |
| RS2540986416 | Health Risk | Pathogenic | — |
| RS2540986555 | Health Risk | Pathogenic | — |
| RS2540986604 | Health Risk | Pathogenic | — |
| RS2540986624 | Health Risk | Pathogenic | — |
| RS2540986669 | Health Risk | Pathogenic | — |
| RS2540986710 | Health Risk | Pathogenic | — |
| RS2540986756 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS2540986889 | Health Risk | Pathogenic | — |
| RS2540986906 | Health Risk | Pathogenic | — |
| RS2540986934 | Health Risk | Pathogenic | — |
| RS2540986940 | Health Risk | Pathogenic | — |
| RS2540987220 | Health Risk | Pathogenic | — |
| RS2540987661 | Health Risk | Pathogenic | — |
| RS2540987954 | Health Risk | Pathogenic | — |
| RS2540988143 | Health Risk | Pathogenic | — |
| RS2540988395 | Health Risk | Pathogenic | — |
| RS2540988430 | Health Risk | Pathogenic | — |
| RS2540988748 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS281865107 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS281865110 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS281865113 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS281865114 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS752399257 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome, HPS6-related disorder, Hermansky-Pudlak syndrome |
| RS756325364 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS760452661 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS776754431 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS940319528 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS1220869113 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 6 |
| RS1384342700 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS1412405724 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS1462863412 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS1478574193 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome |
| RS1590262450 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome |
| RS1590263820 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS199891110 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome |
| RS2136334244 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS2540985942 | Health Risk | Pathogenic/Likely pathogenic | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |