ClinVar Genomic variation as it relates to human health
GRCh37/hg19 7q31.1-31.2(chr7:108967155-116850770)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 |
358 | 395 | |
IMMP2L | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
32 | 117 | |
MET | No evidence available | No evidence available |
GRCh38 GRCh37 |
3761 | 3812 | |
BMT2 | - | - |
GRCh38 GRCh37 |
- | 26 | |
CAPZA2 | - | - |
GRCh38 GRCh37 |
18 | 52 | |
CAV1 | - | - |
GRCh38 GRCh37 |
109 | 162 | |
CAV2 | - | - |
GRCh38 GRCh37 |
15 | 45 | |
DOCK4 | - | - |
GRCh38 GRCh37 |
129 | 194 | |
GPR85 | - | - |
GRCh38 GRCh37 |
28 | 54 | |
IFRD1 | - | - |
GRCh38 GRCh37 |
47 | 80 |
There are 12 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) |
|
Mar 17, 2023 | RCV003482979.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024