ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q13.1-13.2(chr4:65646937-68662306)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
CENPC | - | - |
GRCh38 GRCh37 |
49 | 75 | |
EPHA5 | - | - |
GRCh38 GRCh37 |
50 | 71 | |
GNRHR | - | - |
GRCh38 GRCh37 |
180 | 208 | |
STAP1 | - | - |
GRCh38 GRCh37 |
92 | 137 | |
UBA6 | - | - |
GRCh38 GRCh37 |
57 | 84 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003986482.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024