ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7p12.1-11.1(chr7:52809787-58025873)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
EGFR | No evidence available | No evidence available |
GRCh38 GRCh37 |
2672 | 3026 | |
CCT6A | - | - |
GRCh38 GRCh37 |
21 | 55 | |
CHCHD2 | - | - |
GRCh38 GRCh37 |
65 | 108 | |
HPVC1 | - | - |
GRCh38 GRCh37 |
- | 3 | |
LANCL2 | - | - |
GRCh38 GRCh37 |
24 | 55 | |
MRPS17 | - | - |
GRCh38 GRCh37 |
8 | 37 | |
NIPSNAP2 | - | - |
GRCh38 GRCh37 |
18 | 46 | |
NUPR2 | - | - | - |
GRCh38 GRCh37 |
3 | 22 |
PHKG1 | - | - |
GRCh38 GRCh37 |
3 | 80 | |
POM121L12 | - | - | - |
GRCh38 GRCh37 |
36 | 52 |
There are 9 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 4, 2018 | RCV000846150.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022