ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7p12.1-11.2(chr7:52114454-57434735)x1
Germline
Classification
(1)
Uncertain significance
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 | 3006 | |
CCT6A | - | - |
GRCh38 GRCh37 |
21 | 55 | |
CHCHD2 | - | - |
GRCh38 GRCh37 |
64 | 106 | |
DKFZp434L192 | - | - | - | GRCh38 | - | 5 |
EGFR-AS1 | - | - | - | GRCh38 | - | 200 |
ELDR | - | - | GRCh38 | - | 8 | |
FRA7A | - | - | - | GRCh38 | - | 12 |
GS1-278J22.2 | - | - | - | GRCh38 | - | 9 |
LANCL2 | - | - |
GRCh38 GRCh37 |
24 | 53 | |
LINC01445 | - | - | - |
GRCh38 GRCh38 |
- | 9 |
There are 99 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000052656.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024