ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4
Germline
Classification
(1)
Likely 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 | |||
PDE4D | No evidence available | No evidence available |
GRCh38 GRCh37 |
528 | 555 | |
ADAMTS6 | - | - |
GRCh38 GRCh37 |
46 | 66 | |
CCDC125 | - | - |
GRCh38 GRCh38 GRCh37 |
23 | 42 | |
CCNB1 | - | - |
GRCh38 GRCh37 |
16 | 32 | |
CD180 | - | - |
GRCh38 GRCh37 |
51 | 70 | |
CDK7 | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 24 | |
CENPH | - | - |
GRCh38 GRCh37 |
13 | 30 | |
CENPK | - | - |
GRCh38 GRCh37 |
13 | 32 | |
CWC27 | - | - |
GRCh38 GRCh37 |
339 | 365 | |
DEPDC1B | - | - |
GRCh38 GRCh37 |
37 | 57 |
There are 31 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 |
---|---|---|---|---|
See cases
|
Likely pathogenic (1) |
|
Jun 16, 2014 | RCV000510792.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024