ClinVar Genomic variation as it relates to human health
GRCh38/hg38 8p23.1-22(chr8:12728904-14368722)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 | |||
C8orf48 | - | - | - |
GRCh38 GRCh37 |
1 | 113 |
DLC1 | - | - |
GRCh38 GRCh38 GRCh37 |
400 | 545 | |
LINC00681 | - | - | - |
GRCh38 GRCh38 |
- | 47 |
LINC03019 | - | - | - |
GRCh38 GRCh38 |
- | 47 |
LOC102725080 | - | - | - | GRCh38 | - | 53 |
LOC105379292 | - | - | - | GRCh38 | - | 50 |
LOC124049166 | - | - | - |
GRCh38 GRCh38 |
- | 58 |
LOC126860305 | - | - | - |
GRCh38 GRCh38 |
- | 67 |
LOC126860306 | - | - | - | GRCh38 | - | 46 |
LOC129999918 | - | - | - |
GRCh38 GRCh38 |
- | 46 |
There are 31 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) |
|
Dec 22, 2010 | RCV000137151.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024