ClinVar Genomic variation as it relates to human health
GRCh38/hg38 Xq26.2(chrX:133658037-133915611)
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 | |||
GPC3 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
934 | 1111 | |
GPC3-AS1 | - | - | - | GRCh38 | - | 83 |
LOC130068717 | - | - | - | GRCh38 | - | - |
LOC130068718 | - | - | - | GRCh38 | - | 85 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 27, 2022 | RCV001823073.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 09, 2023