ClinVar Genomic variation as it relates to human health
NC_000009.12:g.69090066_69225446dup
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 | |||
LOC124292588 | - | - | - | GRCh38 | - | 24 |
LOC130001864 | - | - | - | GRCh38 | - | 24 |
LOC130001865 | - | - | - | GRCh38 | - | 24 |
LOC130001866 | - | - | - | GRCh38 | - | 28 |
LOC130001867 | - | - | - | GRCh38 | - | 23 |
TJP2 | - | - |
GRCh38 GRCh37 |
657 | 721 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 16, 2016 | RCV000225083.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023