ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q31.2(chr7:115042242-116687714)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 | |||
MET | No evidence available | No evidence available |
GRCh38 GRCh37 |
3538 | 3587 | |
CAV1 | - | - |
GRCh38 GRCh37 |
103 | 152 | |
CAV2 | - | - |
GRCh38 GRCh37 |
9 | 39 | |
COMETT | - | - | - | GRCh38 | - | 22 |
LINC01392 | - | - | - | GRCh38 | - | 10 |
LINC01393 | - | - | - | GRCh38 | - | 11 |
LOC100506489 | - | - | - | GRCh38 | - | 10 |
LOC102724434 | - | - | - | GRCh38 | - | 10 |
LOC107986838 | - | - | - | GRCh38 | - | 10 |
LOC110121207 | - | - | - | GRCh38 | - | 10 |
There are 40 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) |
|
Aug 12, 2011 | RCV000053575.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023