ClinVar Genomic variation as it relates to human health
NM_024747.6(HPS6):c.1513C>T (p.Gln505Ter)
Germline
Classification
(2)
Pathogenic/Likely pathogenic
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
HPS6 | - | - |
GRCh38 GRCh37 |
437 | 538 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
May 29, 2022 | RCV003062297.9 | |
Likely pathogenic (1) |
|
Oct 14, 2022 | RCV003225774.8 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 15, 2024