ClinVar Genomic variation as it relates to human health
NC_000005.9:g.(?_52285299)_(56189507_?)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 | |||
MAP3K1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
192 | 295 | |
ANKRD55 | - | - |
GRCh38 GRCh37 |
48 | 60 | |
ARL15 | - | - | - |
GRCh38 GRCh37 |
13 | 34 |
CCNO | - | - |
GRCh38 GRCh37 |
157 | 195 | |
CDC20B | - | - |
GRCh38 GRCh37 |
29 | 52 | |
DDX4 | - | - |
GRCh38 GRCh37 |
33 | 47 | |
DHX29 | - | - |
GRCh38 GRCh37 |
7 | 83 | |
ESM1 | - | - |
GRCh38 GRCh37 |
5 | 18 | |
FST | - | - |
GRCh38 GRCh37 |
12 | 25 | |
GPX8 | - | - |
GRCh38 GRCh37 |
- | 23 |
There are 15 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) |
|
Nov 1, 2023 | RCV003107599.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 17, 2024