ClinVar Genomic variation as it relates to human health
NC_000001.10:g.216144119_216591855del447737
Germline
Classification
(1)
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 | |||
LOC122152296 | - | - | - | GRCh38 | - | 209 |
LOC126806009 | - | - | - | GRCh38 | - | 14 |
LOC132088648 | - | - | - | GRCh38 | - | 16 |
USH2A | - | - |
GRCh38 GRCh37 |
6943 | 8418 | |
USH2A-AS1 | - | - | - | GRCh38 | - | 724 |
USH2A-AS2 | - | - | - | GRCh38 | - | 550 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 8, 2016 | RCV000504108.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023