ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16q23.3(chr16:83478453-84036483)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 | |||
CDH13 | - | - |
GRCh38 GRCh37 |
133 | 231 | |
CDH13-AS2 | - | - | - | GRCh38 | - | 28 |
CEDORA | - | - | - | GRCh38 | - | 34 |
HSBP1 | - | - |
GRCh38 GRCh37 |
10 | 71 | |
LOC121847994 | - | - | - | GRCh38 | - | 28 |
LOC125177363 | - | - | - | GRCh38 | - | 29 |
LOC126862421 | - | - | - | GRCh38 | - | 28 |
LOC126862422 | - | - | - | GRCh38 | - | 108 |
LOC129390813 | - | - | - | GRCh38 | - | 28 |
LOC130059552 | - | - | - | GRCh38 | - | 27 |
There are 13 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) |
|
May 14, 2012 | RCV000138549.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024