ClinVar Genomic variation as it relates to human health
GRCh37/hg19 8q13.1-13.2(chr8:67848148-69198213)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 | |||
CPA6 | No evidence available | No evidence available |
GRCh38 GRCh37 |
113 | 247 | |
ARFGEF1 | - | - |
GRCh38 GRCh37 |
143 | 401 | |
COPS5 | - | - |
GRCh38 GRCh37 |
5 | 41 | |
CSPP1 | - | - |
GRCh38 GRCh37 |
916 | 1178 | |
PPP1R42 | - | - |
GRCh38 GRCh37 |
4 | 39 | |
PREX2 | - | - |
GRCh38 GRCh37 |
117 | 145 | |
TCF24 | - | - | - |
GRCh38 GRCh37 |
13 | 46 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003986764.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024