ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5q12.3-13.2(chr5:64932763-69495504)x1
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 | |||
ADAMTS6 | - | - |
GRCh38 GRCh37 |
46 | 66 | |
AK6 | - | - |
GRCh38 GRCh38 GRCh38 |
- | 12 | |
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 |
338 | 364 | |
ERBIN | - | - |
GRCh38 GRCh37 |
730 | 750 |
There are 107 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051223.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024