ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6p25.3(chr6:163083-2029531)x3
Germline
Classification
(1)
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 | |||
FOXC1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
511 | 648 | |
DUSP22 | - | - |
GRCh38 GRCh37 |
25 | 171 | |
EXOC2 | - | - |
GRCh38 GRCh37 |
37 | 150 | |
FOXCUT | - | - | GRCh38 | - | 35 | |
FOXF2 | - | - |
GRCh38 GRCh37 |
31 | 105 | |
FOXF2-DT | - | - | - | GRCh38 | - | 30 |
FOXQ1 | - | - |
GRCh38 GRCh37 |
38 | 110 | |
GMDS | - | - |
GRCh38 GRCh37 |
21 | 113 | |
HUS1B | - | - |
GRCh38 GRCh37 |
- | 99 | |
IRF4 | - | - |
GRCh38 GRCh37 |
258 | 341 |
There are 110 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) |
|
Jan 27, 2011 | RCV000135617.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023