ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q22.2-22.3(chr2:143294079-147713830)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 |
1318 | 1387 | |
ARHGAP15 | - | - |
GRCh38 GRCh37 |
16 | 46 | |
ARHGAP15-AS1 | - | - | - | GRCh38 | - | 12 |
GTDC1 | - | - |
GRCh38 GRCh37 |
12 | 49 | |
LINC01412 | - | - | - | GRCh38 | - | 12 |
LINC01911 | - | - | - | GRCh38 | - | 6 |
LINC01966 | - | - | - | GRCh38 | - | 7 |
LINC02993 | - | - | - | GRCh38 | - | 12 |
LOC101928386 | - | - | - | GRCh38 | - | 15 |
LOC107228318 | - | - | - | GRCh38 | - | 9 |
There are 35 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) |
|
May 3, 2012 | RCV000139128.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023