ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16q22.1(chr16:69369131-69942990)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 | |||
COG8 | - | - |
GRCh38 GRCh37 |
159 | 265 | |
CYB5B | - | - |
GRCh38 GRCh37 |
8 | 39 | |
NFAT5 | - | - |
GRCh38 GRCh37 |
661 | 697 | |
NIP7 | - | - |
GRCh38 GRCh37 |
9 | 45 | |
NOB1 | - | - |
GRCh38 GRCh37 |
27 | 68 | |
NQO1 | - | - |
GRCh38 GRCh37 |
230 | 266 | |
TERF2 | - | - |
GRCh38 GRCh37 |
34 | 74 | |
TMED6 | - | - | - |
GRCh38 GRCh37 |
15 | 48 |
WWP2 | - | - |
GRCh38 GRCh37 |
41 | 83 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 3, 2020 | RCV001259864.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022