| - GRCh37:
- Chr19:45682640
- GRCh38:
- Chr19:45179382
| BLOC1S3 | R29L | Hermansky-Pudlak syndrome 8 | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr19:45683003
- GRCh38:
- Chr19:45179745
| BLOC1S3 | Q150R | Inborn genetic diseases, not provided, Hermansky-Pudlak syndrome 8
| Uncertain significance
(Jun 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:45682889
- GRCh38:
- Chr19:45179631
| BLOC1S3 | R112L | not provided, Hermansky-Pudlak syndrome 8, Inborn genetic diseases
| Uncertain significance
(Sep 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:45683059
- GRCh38:
- Chr19:45179801
| BLOC1S3 | A169S | not provided, not specified, Hermansky-Pudlak syndrome 8
| Uncertain significance
(Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:45682931-45682949
- GRCh38:
- Chr19:45179673-45179691
| BLOC1S3 | S129fs | Hermansky-Pudlak syndrome 8 | Pathogenic
(Mar 30, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr19:45682889-45682892
- GRCh38:
- Chr19:45179631-45179634
| BLOC1S3 | L113fs | Hermansky-Pudlak syndrome 8 | Pathogenic
(Mar 30, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr19:45682988-45683011
- GRCh38:
- Chr19:45179730-45179753
| BLOC1S3 | | Hermansky-Pudlak syndrome 8 | Pathogenic
(Mar 30, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr19:45682685
- GRCh38:
- Chr19:45179427
| BLOC1S3 | S44* | Hermansky-Pudlak syndrome 8 | Pathogenic
(Aug 2, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr19:45682824
- GRCh38:
- Chr19:45179566
| BLOC1S3 | | not specified, not provided, Hermansky-Pudlak syndrome 8
| Benign
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:45683000
- GRCh38:
- Chr19:45179742
| BLOC1S3 | Q150fs | Hermansky-Pudlak syndrome 8 | Pathogenic
(Jan 1, 2006) | no assertion criteria provided |