Links from MedGen
Items: 4
| Gene(s) | Protein change | Condition(s) | Clinical significance
(Last reviewed) | Review status |
|---|
| - GRCh37:
- Chr1:55518317
- GRCh38:
- Chr1:55052644
| PCSK9 | | Hypercholesterolemia, autosomal dominant, 3 | Uncertain significance
(Sep 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:55505722
- GRCh38:
- Chr1:55040049
| PCSK9 | | Hypocholesterolemia | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr1:55505647
- GRCh38:
- Chr1:55039974
| PCSK9 | R46L | Cardiovascular phenotype, Hypobetalipoproteinemia, Familial hypercholesterolemia,
not specified, not provided, Hypercholesterolemia, familial, 1,
Hypercholesterolemia, autosomal dominant, 3 | Benign/Likely benign
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:55529215
- GRCh38:
- Chr1:55063542
| PCSK9 | C679*, C512*, C554*, C621*, C660*, C615*, C693*, C680*, C720* | not specified, Familial hypercholesterolemia, not provided,
Hypercholesterolemia, autosomal dominant, 3 | Conflicting interpretations of pathogenicity
(May 2, 2023) | criteria provided, conflicting interpretations |