ClinVar Genomic variation as it relates to human health
GRCh38/hg38 5p12(chr5:42720837-43251761)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 | |||
ANXA2R | - | - |
GRCh38 GRCh37 |
- | 39 | |
ANXA2R-AS1 | - | - | - | GRCh38 | - | 9 |
ANXA2R-OT1 | - | - | - | GRCh38 | - | 23 |
CCDC152 | - | - | - |
GRCh38 GRCh37 |
15 | 54 |
FLJ32255 | - | - | - | GRCh38 | - | 9 |
GHR | - | - |
GRCh38 GRCh37 |
471 | 513 | |
LOC100132356 | - | - | - | GRCh38 | - | 9 |
LOC100506639 | - | - | - | GRCh38 | - | 8 |
LOC105374748 | - | - | - | GRCh38 | - | 9 |
LOC111501791 | - | - | - | GRCh38 | - | 9 |
There are 24 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) |
|
Oct 24, 2012 | RCV000143351.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024