ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)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 | |||
ANKRD18B | - | - |
GRCh38 GRCh37 |
1 | 71 | |
ARHGEF39 | - | - | - |
GRCh38 GRCh37 |
24 | 115 |
ARID3C | - | - | - |
GRCh38 GRCh37 |
24 | 99 |
ATOSB | - | - |
GRCh38 GRCh37 |
39 | 112 | |
CA9 | - | - |
GRCh38 GRCh37 |
29 | 103 | |
CCDC107 | - | - | - |
GRCh38 GRCh37 |
10 | 104 |
CCIN | - | - |
GRCh38 GRCh37 |
36 | 109 | |
CCL19 | - | - |
GRCh38 GRCh37 |
- | 82 | |
CCL21 | - | - |
GRCh38 GRCh37 |
- | 85 | |
CCL27 | - | - |
GRCh38 GRCh37 |
7 | 83 |
There are 203 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 30, 2010 | RCV000134762.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024