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 |
61 | 98 | |
CBX3 | - | - |
GRCh38 GRCh37 |
2 | 35 | |
CCDC126 | - | - | - |
GRCh38 GRCh37 |
9 | 42 |
CDCA7L | - | - |
GRCh38 GRCh37 |
19 | 193 | |
CYCS | - | - |
GRCh38 GRCh37 |
53 | 84 | |
DNAH11 | - | - |
GRCh38 GRCh37 |
5283 | 5659 | |
EVX1 | - | - |
GRCh38 GRCh37 |
- | 50 | |
EVX1-AS | - | - | - | GRCh38 | - | 29 |
FAM221A | - | - | - |
GRCh38 GRCh37 |
13 | 45 |
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 |
---|---|---|---|---|
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