ClinVar Genomic variation as it relates to human health
GRCh38/hg38 16q23.3(chr16:83602431-84024341)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 | |||
CDH13 | - | - |
GRCh38 GRCh37 |
124 | 221 | |
CDH13-AS2 | - | - | - | GRCh38 | - | 28 |
CEDORA | - | - | - | GRCh38 | - | 34 |
HSBP1 | - | - |
GRCh38 GRCh37 |
8 | 68 | |
LOC125177363 | - | - | - | GRCh38 | - | 29 |
LOC126862421 | - | - | - | GRCh38 | - | 28 |
LOC126862422 | - | - | - | GRCh38 | - | 107 |
LOC129390813 | - | - | - | GRCh38 | - | 28 |
LOC130059552 | - | - | - | GRCh38 | - | 27 |
LOC130059553 | - | - | - | GRCh38 | - | 28 |
There are 11 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000053935.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023