ClinVar Genomic variation as it relates to human health
GRCh38/hg38 20q13.13(chr20:47810469-48502835)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 | |||
LINC00494 | - | - | - | GRCh38 | - | 7 |
LINC01522 | - | - | - | GRCh38 | - | 7 |
LINC01523 | - | - | - | GRCh38 | - | 7 |
LOC126863043 | - | - | - | GRCh38 | - | 7 |
LOC129391186 | - | - | - | GRCh38 | - | 3 |
LOC129391187 | - | - | - | GRCh38 | - | 5 |
LOC130066029 | - | - | - | GRCh38 | - | 4 |
LOC130066030 | - | - | - | GRCh38 | - | 4 |
LOC130066031 | - | - | - | GRCh38 | - | 4 |
LOC130066032 | - | - | - | GRCh38 | - | 7 |
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) |
|
Mar 21, 2011 | RCV000137294.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024