ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q12(chr14:27450705-31529481)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 | |||
FOXG1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
798 | 823 | |
AP4S1 | - | - |
GRCh38 GRCh37 |
134 | 168 | |
COCH | - | - |
GRCh38 GRCh37 |
39 | 287 | |
G2E3 | - | - |
GRCh38 GRCh37 |
29 | 53 | |
PRKD1 | - | - |
GRCh38 GRCh37 |
166 | 190 | |
SCFD1 | - | - |
GRCh38 GRCh37 |
33 | 58 | |
STRN3 | - | - |
GRCh38 GRCh37 |
43 | 81 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 25, 2021 | RCV001293649.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2023