ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9q33.1-33.2(chr9:117853848-124633077)x1
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 | |||
ASTN2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
164 | 933 | |
BRINP1 | - | - |
GRCh38 GRCh37 |
10 | 45 | |
C5 | - | - |
GRCh38 GRCh37 |
674 | 712 | |
CDK5RAP2 | - | - |
GRCh38 GRCh37 |
808 | 833 | |
CNTRL | - | - |
GRCh38 GRCh37 |
136 | 164 | |
DAB2IP | - | - |
GRCh38 GRCh37 |
81 | 111 | |
DELEC1 | - | - |
GRCh38 GRCh37 |
3 | 36 | |
FBXW2 | - | - |
GRCh38 GRCh37 |
15 | 38 | |
GSN | - | - |
GRCh38 GRCh37 |
714 | 749 | |
MEGF9 | - | - |
GRCh38 GRCh37 |
28 | 62 |
There are 11 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 16, 2020 | RCV001801196.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022