ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q31.1-31.33(chr7:114142477-125840381)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 |
347 | 384 | |
CADPS2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
75 | 142 | |
MET | No evidence available | No evidence available |
GRCh38 GRCh37 |
3538 | 3587 | |
AASS | - | - |
GRCh38 GRCh37 |
180 | 205 | |
ANKRD7 | - | - |
GRCh38 GRCh37 |
8 | 33 | |
ASB15 | - | - |
GRCh38 GRCh37 |
12 | 46 | |
ASB15-AS1 | - | - | - | GRCh38 | - | 17 |
ASZ1 | - | - |
GRCh38 GRCh37 |
23 | 53 | |
CAPZA2 | - | - |
GRCh38 GRCh37 |
14 | 47 | |
CAV1 | - | - |
GRCh38 GRCh37 |
103 | 152 |
There are 245 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) |
|
Nov 30, 2010 | RCV000135311.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023