ClinVar Genomic variation as it relates to human health
NC_000014.9:g.102573453_103575949del
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 | |||
CDC42BPB | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
194 | 261 | |
AMN | - | - |
GRCh38 GRCh37 |
453 | 628 | |
BAG5 | - | - |
GRCh38 GRCh37 |
33 | 94 | |
CKB | - | - |
GRCh38 GRCh37 |
15 | 74 | |
COA8 | - | - |
GRCh38 GRCh37 |
157 | 219 | |
EIF5 | - | - |
GRCh38 GRCh37 |
18 | 76 | |
EIF5-DT | - | - | - | GRCh38 | - | 27 |
EXOC3L4 | - | - | - |
GRCh38 GRCh37 |
60 | 116 |
LBHD2 | - | - | - | GRCh38 | - | 25 |
LINC00605 | - | - | - | GRCh38 | - | 25 |
There are 79 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV003123350.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023