ClinVar Genomic variation as it relates to human health
NM_001330239.4(TJP1):c.3877-8_3877-7del
Germline
Classification
(1)
Benign
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 | |||
LOC126862085 | - | - | - |
GRCh38 GRCh38 GRCh38 |
- | 86 |
TJP1 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
86 | 270 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
TJP1-related disorder
|
Benign (1) |
|
Oct 31, 2019 | RCV003984756.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 19, 2024