ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3p13(chr3:70618611-72399570)x1
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 | |||
FOXP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
807 | 884 | |
EIF4E3 | - | - |
GRCh38 GRCh37 |
10 | 40 | |
FOXP1-IT1 | - | - | - | GRCh37 | - | 19 |
GPR27 | - | - |
GRCh38 GRCh37 |
10 | 40 | |
PROK2 | - | - |
GRCh38 GRCh37 |
59 | 78 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Oct 30, 2017 | RCV000682271.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022