ClinVar Genomic variation as it relates to human health
NC_000009.11:g.(?_33436037)_(37436779_?)del
Germline
Classification
(1)
Pathogenic
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 | |||
PAX5 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
154 | 259 | |
ANKRD18B | - | - |
GRCh38 GRCh37 |
1 | 73 | |
AQP3 | - | - |
GRCh38 GRCh37 |
9 | 83 | |
ARHGEF39 | - | - | - |
GRCh38 GRCh37 |
27 | 125 |
ARID3C | - | - |
GRCh38 GRCh37 |
30 | 107 | |
ATOSB | - | - |
GRCh38 GRCh37 |
44 | 119 | |
CA9 | - | - |
GRCh38 GRCh37 |
44 | 121 | |
CCDC107 | - | - | - |
GRCh38 GRCh37 |
10 | 111 |
CCIN | - | - |
GRCh38 GRCh37 |
45 | 121 | |
CCL19 | - | - |
GRCh38 GRCh37 |
- | 84 |
There are 58 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) |
|
Jun 6, 2023 | RCV004581844.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 07, 2024