ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6p12.1-11.2(chr6:56639682-57432788)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 | |||
BAG2 | - | - |
GRCh38 GRCh37 |
4 | 53 | |
BEND6 | - | - | - |
GRCh38 GRCh37 |
12 | 22 |
DST | - | - | GRCh38 | 3724 | 3806 | |
DST-AS1 | - | - | - | GRCh38 | - | 18 |
KIAA1586 | - | - | - |
GRCh38 GRCh37 |
39 | 50 |
LINC03001 | - | - | - | GRCh38 | - | 5 |
LOC123744830 | - | - | - | GRCh38 | - | 5 |
LOC123744831 | - | - | - | GRCh38 | - | 5 |
LOC126859698 | - | - | - | GRCh38 | - | 5 |
LOC129389545 | - | - | - | GRCh38 | - | 6 |
There are 19 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) |
|
Dec 22, 2010 | RCV000135785.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023