ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16q22.1(chr16:69638086-70040372)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 | |||
CLEC18A | - | - |
GRCh38 GRCh37 |
34 | 72 | |
MIR140 | - | - |
GRCh38 GRCh37 |
- | 40 | |
NFAT5 | - | - |
GRCh38 GRCh37 |
668 | 706 | |
NOB1 | - | - |
GRCh38 GRCh37 |
31 | 76 | |
NQO1 | - | - |
GRCh38 GRCh37 |
245 | 283 | |
WWP2 | - | - |
GRCh38 GRCh37 |
46 | 90 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Dec 27, 2019 | RCV001259862.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022