ClinVar Genomic variation as it relates to human health
NC_000011.10:g.5226570_5233984del
Germline
Classification
(3)
Pathogenic
criteria provided, single submitter
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 | |||
HBB | - | - |
GRCh38 GRCh37 |
20 | 1819 | |
HBD | - | - |
GRCh38 GRCh37 |
34 | 109 | |
LOC106099062 | - | - | - | GRCh38 | - | 853 |
LOC106099063 | - | - | - | GRCh38 | - | 38 |
LOC107133510 | - | - | - | GRCh38 | - | 1772 |
LOC110006319 | - | - | - | GRCh38 | - | 977 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Apr 1, 1992 | RCV000016208.10 | |
Pathogenic (1) |
|
Sep 12, 2014 | RCV000415449.2 | |
Pathogenic (1) |
|
Jan 1, 2016 | RCV001196231.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 12, 2024