ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q22.3(chr2:144461848-144665266)x3
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 | |||
ZEB2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1338 | 1407 | |
LINC01412 | - | - | - | GRCh38 | - | 12 |
LINC02993 | - | - | - | GRCh38 | - | 12 |
LOC110121209 | - | - | - | GRCh38 | - | 11 |
ZEB2-AS1 | - | - | - | GRCh38 | - | 16 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052949.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022