ClinVar Genomic variation as it relates to human health
GRCh37/hg19 9p13.3-13.2(chr9:35059633-37660586)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 | |||
PAX5 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
152 | 255 | |
ARHGEF39 | - | - | - |
GRCh38 GRCh37 |
24 | 115 |
ATOSB | - | - |
GRCh38 GRCh37 |
39 | 112 | |
CA9 | - | - |
GRCh38 GRCh37 |
29 | 103 | |
CCDC107 | - | - | - |
GRCh38 GRCh37 |
10 | 104 |
CCIN | - | - |
GRCh38 GRCh37 |
36 | 109 | |
CD72 | - | - |
GRCh38 GRCh37 |
17 | 91 | |
CIMIP2B | - | - | - |
GRCh38 GRCh37 |
13 | 88 |
CLTA | - | - |
GRCh38 GRCh37 |
16 | 89 | |
CREB3 | - | - |
GRCh38 GRCh37 |
23 | 98 |
There are 34 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) |
|
Aug 23, 2021 | RCV001580195.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023