ClinVar Genomic variation as it relates to human health
GRCh37/hg19 3p14.1-12.3(chr3:66133719-75076440)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 | |
MITF | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
663 | 688 | |
ARL6IP5 | - | - |
GRCh38 GRCh37 |
6 | 24 | |
CNTN3 | - | - |
GRCh38 GRCh37 |
81 | 96 | |
EBLN2 | - | - |
GRCh38 GRCh37 |
- | 39 | |
EIF4E3 | - | - |
GRCh38 GRCh37 |
10 | 40 | |
EOGT | - | - |
GRCh38 GRCh37 |
225 | 238 | |
FOXP1-IT1 | - | - | - | GRCh37 | - | 19 |
FRMD4B | - | - |
GRCh38 GRCh37 |
63 | 76 | |
GPR27 | - | - |
GRCh38 GRCh37 |
10 | 40 |
There are 14 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 22, 2017 | RCV000682270.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023