ClinVar Genomic variation as it relates to human health
GRCh37/hg19 4p12(chr4:47828849-48182073)x1
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 | |||
CNGA1 | - | - |
GRCh38 GRCh37 |
13 | 497 | |
CORIN | - | - |
GRCh38 GRCh37 |
125 | 151 | |
NFXL1 | - | - | - |
GRCh38 GRCh37 |
35 | 97 |
NIPAL1 | - | - | - |
GRCh38 GRCh37 |
18 | 43 |
TEC | - | - |
GRCh38 GRCh37 |
20 | 40 | |
TXK | - | - |
GRCh38 GRCh37 |
27 | 58 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Sep 28, 2017 | RCV000682399.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022