ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16p12.1(chr16:26966063-28234594)x3
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 |
GSG1L | - | - |
GRCh38 GRCh37 |
14 | 53 | |
GTF3C1 | - | - |
GRCh38 GRCh37 |
128 | 172 | |
IL21R | - | - |
GRCh38 GRCh37 |
213 | 404 | |
IL21R-AS1 | - | - | - | GRCh38 | - | 161 |
IL4R | - | - |
GRCh38 GRCh37 |
82 | 121 | |
KATNIP | - | - |
GRCh38 GRCh37 |
522 | 611 | |
KDM8 | - | - |
GRCh38 GRCh37 |
28 | 68 | |
LINC02129 | - | - | - | GRCh38 | - | 13 |
LOC100128079 | - | - | - | GRCh38 | - | 37 |
There are 51 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000053861.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024