ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q31.1-32.1(chr7:111613396-127897316)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 | |||
FOXP2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
351 | 388 | |
CADPS2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
86 | 170 | |
MET | No evidence available | No evidence available |
GRCh38 GRCh37 |
3653 | 3702 | |
AASS | - | - |
GRCh38 GRCh37 |
192 | 217 | |
ANKRD7 | - | - |
GRCh38 GRCh37 |
13 | 38 | |
ARF5 | - | - |
GRCh38 GRCh37 |
5 | 32 | |
ASB15 | - | - |
GRCh38 GRCh37 |
25 | 65 | |
ASZ1 | - | - |
GRCh38 GRCh37 |
28 | 58 | |
BMT2 | - | - |
GRCh38 GRCh37 |
1 | 29 | |
CAPZA2 | - | - |
GRCh38 GRCh37 |
15 | 48 |
There are 49 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 20, 2016 | RCV000240177.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022