ClinVar Genomic variation as it relates to human health
GRCh37/hg19 5q13.1-13.2(chr5:68313021-68847066)x4
Germline
Classification
(1)
Uncertain significance
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 | |||
CCDC125 | - | - |
GRCh38 GRCh38 GRCh37 |
23 | 42 | |
CCNB1 | - | - |
GRCh38 GRCh37 |
16 | 32 | |
CDK7 | - | - |
GRCh38 GRCh38 GRCh37 |
5 | 24 | |
CENPH | - | - |
GRCh38 GRCh37 |
13 | 30 | |
KGD4 | - | - |
GRCh38 GRCh38 GRCh37 |
6 | 18 | |
MARVELD2 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
189 | 206 | |
OCLN | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
127 | 150 | |
RAD17 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
29 | 45 | |
SLC30A5 | - | - |
GRCh38 GRCh37 |
34 | 51 | |
TAF9 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
- | 22 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Oct 21, 2014 | RCV000512580.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024