ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p14.1-12.3(chr3:68328980-76764319)x3
Germline
Classification
(1)
Likely 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 |
804 | 880 | |
MITF | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
673 | 699 | |
ARL6IP5 | - | - |
GRCh38 GRCh37 |
5 | 24 | |
CNTN3 | - | - |
GRCh38 GRCh37 |
67 | 84 | |
EBLN2 | - | - |
GRCh38 GRCh37 |
- | 31 | |
EIF4E3 | - | - |
GRCh38 GRCh37 |
11 | 58 | |
EOGT | - | - |
GRCh38 GRCh37 |
219 | 234 | |
EOGT-DT | - | - | - | GRCh38 | - | 4 |
FOXP1-AS1 | - | - | - | GRCh38 | - | 8 |
FOXP1-DT | - | - | - | GRCh38 | - | 8 |
There are 167 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Jan 25, 2013 | RCV000140215.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023