ClinVar Genomic variation as it relates to human health
GRCh37/hg19 16p12.1(chr16:26457597-27420153)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 | |||
C16orf82 | - | - | - |
GRCh38 GRCh37 |
2 | 42 |
IL21R | - | - |
GRCh38 GRCh37 |
214 | 405 | |
IL4R | - | - |
GRCh38 GRCh37 |
82 | 121 | |
KDM8 | - | - |
GRCh38 GRCh37 |
28 | 68 | |
NSMCE1 | - | - |
GRCh38 GRCh37 |
15 | 56 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 16, 2019 | RCV001258625.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022