ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q31.1-31.2(chr7:113569777-115093349)x3
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 | |||
FOXP2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
358 | 395 | |
LINC01393 | - | - | - | GRCh38 | - | 11 |
LOC110120618 | - | - | - | GRCh38 | - | 9 |
LOC110120619 | - | - | - | GRCh38 | - | 9 |
LOC110120753 | - | - | - | GRCh38 | - | 8 |
LOC110120810 | - | - | - | GRCh38 | - | 10 |
LOC110120813 | - | - | - | GRCh38 | - | 10 |
LOC110120822 | - | - | - | GRCh38 | - | 9 |
LOC110120983 | - | - | - | GRCh38 | - | 9 |
LOC110121022 | - | - | - | GRCh38 | - | 9 |
There are 13 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053574.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024