ClinVar Genomic variation as it relates to human health
GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1
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 | |||
FOXP1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
803 | 880 | |
MITF | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
663 | 688 | |
ADAMTS9-AS2 | - | - | - | GRCh38 | 1 | 25 |
ARL6IP5 | - | - |
GRCh38 GRCh37 |
5 | 22 | |
CNTN3 | - | - |
GRCh38 GRCh37 |
67 | 82 | |
EBLN2 | - | - |
GRCh38 GRCh37 |
- | - | |
EIF4E3 | - | - |
GRCh38 GRCh37 |
- | - | |
EOGT | - | - |
GRCh38 GRCh37 |
- | 232 | |
EOGT-DT | - | - | - | GRCh38 | - | 4 |
FOXP1-AS1 | - | - | - | GRCh38 | - | 8 |
There are 226 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051512.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023