ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q22.3(chr2:144164576-144505879)x1
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 |
1318 | 1387 | |
GTDC1 | - | - |
GRCh38 GRCh37 |
12 | 49 | |
LOC110120671 | - | - | - | GRCh38 | - | 12 |
LOC111721705 | - | - | - | GRCh38 | - | 46 |
LOC112806051 | - | - | - | GRCh38 | - | 12 |
LOC122819163 | - | - | - | GRCh38 | - | 11 |
LOC129388929 | - | - | - | GRCh38 | - | 11 |
LOC129934870 | - | - | - | GRCh38 | - | 11 |
LOC129934871 | - | - | - | GRCh38 | - | 11 |
LOC129934872 | - | - | - | GRCh38 | - | 11 |
There are 2 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000054089.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023