ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8p12(chr8:30398461-30957178)x1
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 | |||
GSR | - | - |
GRCh38 GRCh37 |
- | - | |
GTF2E2 | - | - |
GRCh38 GRCh37 |
- | - | |
PPP2CB | - | - |
GRCh38 GRCh37 |
- | - | |
PURG | - | - |
GRCh38 GRCh37 |
- | - | |
RBPMS | - | - |
GRCh38 GRCh37 |
- | - | |
SMIM18 | - | - | - |
GRCh38 GRCh37 |
- | - |
TEX15 | - | - |
GRCh38 GRCh37 |
- | - | |
UBXN8 | - | - |
GRCh38 GRCh37 |
- | - | |
WRN | - | - |
GRCh38 GRCh37 |
- | - |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003986734.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024