ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7p22.1(chr7:5378314-5849934)x4
Germline
Classification
(1)
Likely 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 | |||
ACTB | No evidence available | No evidence available |
GRCh38 GRCh37 |
548 | 598 | |
FBXL18 | - | - |
GRCh38 GRCh37 |
47 | 99 | |
FSCN1 | - | - |
GRCh38 GRCh37 |
24 | 76 | |
LINC02983 | - | - | - | GRCh38 | - | 23 |
LINC03073 | - | - | - | GRCh38 | - | 23 |
LOC110121162 | - | - | - | GRCh38 | - | 24 |
LOC113748395 | - | - | - | GRCh38 | - | 22 |
LOC113748396 | - | - | - | GRCh38 | - | 23 |
LOC116183082 | - | - | - | GRCh38 | - | 22 |
LOC126859937 | - | - | - | GRCh38 | - | 24 |
There are 42 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 |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
Aug 14, 2012 | RCV000139038.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024