ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6p25.3-25.2(chr6:163083-2724611)x1
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 | |||
FOXC1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
511 | 645 | |
DUSP22 | - | - |
GRCh38 GRCh37 |
28 | 175 | |
EXOC2 | - | - |
GRCh38 GRCh37 |
42 | 157 | |
FOXCUT | - | - | GRCh38 | - | 35 | |
FOXF2 | - | - |
GRCh38 GRCh37 |
31 | 106 | |
FOXF2-DT | - | - | - | GRCh38 | - | 30 |
FOXQ1 | - | - |
GRCh38 GRCh37 |
39 | 112 | |
GMDS | - | - |
GRCh38 GRCh37 |
23 | 112 | |
GMDS-DT | - | - | - | GRCh38 | - | 33 |
HUS1B | - | - |
GRCh38 GRCh37 |
- | 101 |
There are 119 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 | RCV000052162.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023