ClinVar Genomic variation as it relates to human health
GRCh38/hg38 7q31.1-31.31(chr7:114898882-117790123)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 | |||
MET | No evidence available | No evidence available |
GRCh38 GRCh37 |
3538 | 3587 | |
ASZ1 | - | - |
GRCh38 GRCh37 |
23 | 53 | |
CAPZA2 | - | - |
GRCh38 GRCh37 |
14 | 47 | |
CAV1 | - | - |
GRCh38 GRCh37 |
103 | 152 | |
CAV2 | - | - |
GRCh38 GRCh37 |
9 | 39 | |
CFTR | - | - |
GRCh38 GRCh37 |
3598 | 4891 | |
CFTR-AS1 | - | - | - | GRCh38 | - | 484 |
COMETT | - | - | - | GRCh38 | - | 22 |
CTTNBP2 | - | - |
GRCh38 GRCh37 |
80 | 107 | |
LINC01392 | - | - | - | GRCh38 | - | 10 |
There are 123 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 19, 2010 | RCV000142459.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023