ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9p21.1-13.3(chr9:33127803-33391202)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
AQP7 | - | - |
GRCh38 GRCh37 |
6 | 82 | |
B4GALT1 | - | - |
GRCh38 GRCh37 |
100 | 194 | |
BAG1 | - | - |
GRCh38 GRCh37 |
12 | 106 | |
CHMP5 | - | - |
GRCh38 GRCh37 |
10 | 89 | |
NFX1 | - | - |
GRCh38 GRCh37 |
53 | 128 | |
SPINK4 | - | - |
GRCh38 GRCh37 |
13 | 91 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 9, 2021 | RCV002474636.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022