ClinVar Genomic variation as it relates to human health
GRCh37/hg19 1q23.3(chr1:162536242-163169281)x3
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 | |||
CCDC190 | - | - | - |
GRCh38 GRCh37 |
22 | 39 |
DDR2 | - | - |
GRCh38 GRCh37 |
354 | 372 | |
HSD17B7 | - | - |
GRCh38 GRCh37 |
27 | 44 | |
RGS4 | - | - |
GRCh38 GRCh37 |
16 | 31 | |
RGS5 | - | - |
GRCh38 GRCh37 |
6 | 24 | |
UAP1 | - | - |
GRCh38 GRCh37 |
24 | 43 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 28, 2019 | RCV001258477.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022