ClinVar Genomic variation as it relates to human health
GRCh38/hg38 9p13.3-13.1(chr9:35623500-38815474)x3
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 |
154 | 259 | |
ALDH1B1 | - | - |
GRCh38 GRCh37 |
64 | 134 | |
ANKRD18A | - | - |
GRCh38 GRCh37 |
71 | 137 | |
ARHGEF39 | - | - | - |
GRCh38 GRCh37 |
27 | 125 |
CA9 | - | - |
GRCh38 GRCh37 |
44 | 121 | |
CCDC107 | - | - | - |
GRCh38 GRCh37 |
10 | 111 |
CCIN | - | - |
GRCh38 GRCh37 |
45 | 121 | |
CD72 | - | - |
GRCh38 GRCh37 |
18 | 95 | |
CLTA | - | - |
GRCh38 GRCh37 |
17 | 93 | |
CREB3 | - | - |
GRCh38 GRCh37 |
25 | 103 |
There are 211 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
May 30, 2010 | RCV000134038.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024