ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q31.1-31.2(chr7:114389395-117253741)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 | |||
FOXP2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
351 | 388 | |
MET | No evidence available | No evidence available |
GRCh38 GRCh37 |
3653 | 3702 | |
CAPZA2 | - | - |
GRCh38 GRCh37 |
15 | 48 | |
CAV1 | - | - |
GRCh38 GRCh37 |
107 | 157 | |
CAV2 | - | - |
GRCh38 GRCh37 |
13 | 43 | |
COMETT | - | - | - | GRCh38 | - | 22 |
LINC01392 | - | - | - | GRCh38 | - | 10 |
LINC01393 | - | - | - | GRCh38 | - | 11 |
LOC100506489 | - | - | - | GRCh38 | - | 10 |
LOC102724434 | - | - | - | GRCh38 | - | 10 |
There are 90 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) |
|
Apr 29, 2013 | RCV000143413.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024