ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16q22.3-23.1(chr16:73917167-75319927)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 | |||
BCAR1 | - | - |
GRCh38 GRCh38 GRCh37 |
123 | 170 | |
CFDP1 | - | - |
GRCh38 GRCh37 |
27 | 78 | |
CLEC18B | - | - |
GRCh38 GRCh37 |
31 | 75 | |
CTRB1 | - | - |
GRCh38 GRCh38 GRCh37 |
32 | 77 | |
CTRB2 | - | - |
GRCh38 GRCh38 GRCh37 |
21 | 67 | |
FA2H | - | - |
GRCh38 GRCh37 |
291 | 417 | |
GLG1 | - | - |
GRCh38 GRCh37 |
64 | 125 | |
LDHD | - | - |
GRCh38 GRCh37 |
55 | 100 | |
LOC100506281 | - | - | - |
GRCh38 GRCh38 |
- | 18 |
LOC105376772 | - | - | - | GRCh38 | - | 16 |
There are 67 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 | RCV000053868.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023