ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7p12.1-q11.22(chr7:53274059-68576213)x3
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 | |||
EGFR | No evidence available | No evidence available |
GRCh38 GRCh37 |
2657 | 3005 | |
ASL | - | - |
GRCh38 GRCh37 |
837 | 872 | |
CCT6A | - | - |
GRCh38 GRCh37 |
14 | 47 | |
CHCHD2 | - | - |
GRCh38 GRCh37 |
63 | 105 | |
CICP24 | - | - | - | GRCh38 | - | 6 |
CRCP | - | - |
GRCh38 GRCh37 |
5 | 27 | |
DKFZp434L192 | - | - | - | GRCh38 | - | 5 |
EGFR-AS1 | - | - | - | GRCh38 | - | 199 |
ELDR | - | - | GRCh38 | - | 8 | |
ERV3-1 | - | - |
GRCh38 GRCh37 |
- | 22 |
There are 220 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 | RCV000053534.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023