ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)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 | |||
ABCB5 | - | - |
GRCh38 GRCh37 |
93 | 130 | |
CBX3 | - | - |
GRCh38 GRCh37 |
4 | 38 | |
CCDC126 | - | - | - |
GRCh38 GRCh37 |
16 | 49 |
CDCA7L | - | - |
GRCh38 GRCh37 |
30 | 206 | |
CYCS | - | - |
GRCh38 GRCh37 |
53 | 85 | |
DNAH11 | - | - |
GRCh38 GRCh37 |
5377 | 5757 | |
EVX1 | - | - |
GRCh38 GRCh37 |
- | 62 | |
EVX1-AS | - | - | - | GRCh38 | - | 40 |
FAM221A | - | - | - |
GRCh38 GRCh37 |
22 | 55 |
GIRGL | - | - | - | GRCh38 | - | 17 |
There are 273 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Nov 30, 2010 | RCV000134333.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023