ClinVar Genomic variation as it relates to human health
NC_000001.10:g.(?_145414782)_(145474819_?)del
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 | |||
ANKRD34A | - | - | - |
GRCh38 GRCh37 |
3 | 205 |
HJV | - | - |
GRCh38 GRCh37 |
365 | 548 | |
POLR3GL | - | - |
GRCh38 GRCh37 |
12 | 225 | |
TXNIP | - | - |
GRCh38 GRCh37 |
18 | 210 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 23, 2018 | RCV000707859.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023