ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q22.3(chr2:144434699-146191493)x1
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 | |||
ZEB2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1338 | 1407 | |
LINC01412 | - | - | - | GRCh38 | - | 12 |
LINC01966 | - | - | - | GRCh38 | - | 7 |
LINC02993 | - | - | - | GRCh38 | - | 12 |
LOC107228318 | - | - | - | GRCh38 | - | 9 |
LOC110120706 | - | - | - | GRCh38 | - | 9 |
LOC110120731 | - | - | - | GRCh38 | - | 9 |
LOC110121209 | - | - | - | GRCh38 | - | 11 |
LOC126806362 | - | - | - | GRCh38 | - | 7 |
LOC126806363 | - | - | - | GRCh38 | - | 8 |
There are 7 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Sep 23, 2013 | RCV000133652.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024