ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4q32.1(chr4:156610216-156842193)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 | |||
ASIC5 | - | - |
GRCh38 GRCh38 GRCh37 |
30 | 68 | |
GUCY1A1 | - | - |
GRCh38 GRCh37 |
92 | 131 | |
GUCY1B1 | - | - |
GRCh38 GRCh37 |
17 | 57 | |
TDO2 | - | - |
GRCh38 GRCh38 GRCh37 |
24 | 62 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jun 26, 2018 | RCV000846404.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022