ClinVar Genomic variation as it relates to human health
GRCh37/hg19 6p25.3(chr6:491126-1624775)
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 |
516 | 653 | |
EXOC2 | - | - |
GRCh38 GRCh37 |
46 | 165 | |
FOXF2 | - | - |
GRCh38 GRCh37 |
41 | 115 | |
FOXQ1 | - | - |
GRCh38 GRCh37 |
50 | 122 | |
GMDS | - | - |
GRCh38 GRCh37 |
25 | 118 | |
HUS1B | - | - |
GRCh38 GRCh37 |
- | 104 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
May 26, 2023 | RCV003236720.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 01, 2023