HPS6 Chromosome 10
HPS6 biogenesis of lysosomal organelles complex 2 subunit 3
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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 |
|---|---|---|---|
| RS139161525 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139517839 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS139679441 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS144257610 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 6, Inborn genetic diseases, Hermansky-Pudlak syndrome 6 |
| RS144777687 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS145571940 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS149692177 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS185571437 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 6, HPS6-related disorder, Hermansky-Pudlak syndrome 6 |
| RS199518658 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS200681093 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 6, HPS6-related disorder, Hermansky-Pudlak syndrome 6 |
| RS281865108 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 6 |
| RS369112226 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS369389149 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS371307947 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 6, HPS6-related disorder, Hermansky-Pudlak syndrome 6 |
| RS373272114 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 6, Inborn genetic diseases, Hermansky-Pudlak syndrome 6 |
| RS373522289 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS374860183 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS376165374 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS376684120 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 6, HPS6-related disorder, Hermansky-Pudlak syndrome 6 |
| RS377169467 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS553794194 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS746069907 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS746813506 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS761258579 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS774233041 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS952447952 | Health Risk | Conflicting classifications of pathogenicity | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS1554903728 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS1590262288 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS2067964335 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS2136333814 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS2136334341 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS2540987646 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS2540988146 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS2540988736 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS2540988872 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS373272174 | Health Risk | Likely pathogenic | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS749791114 | Health Risk | Likely pathogenic | HPS6-related disorder, HPS6-related disorder |
| RS1011135926 | Health Risk | Pathogenic | — |
| RS1131692332 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS1131692333 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS1195549484 | Health Risk | Pathogenic | — |
| RS1212937518 | Health Risk | Pathogenic | — |
| RS1226192640 | Health Risk | Pathogenic | — |
| RS1330407036 | Health Risk | Pathogenic | — |
| RS1373031209 | Health Risk | Pathogenic | — |
| RS1383241620 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |
| RS1426841665 | Health Risk | Pathogenic | — |
| RS1564899012 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome |
| RS1564899399 | Health Risk | Pathogenic | — |
| RS1564899492 | Health Risk | Pathogenic | Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6 |