ClinVar Genomic variation as it relates to human health
GRCh38/hg38 6p12.1-11.2(chr6:55755662-55874865)x2
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 |
13 | 23 |
BMP5 | - | - |
GRCh38 GRCh37 |
42 | 55 | |
COL21A1 | - | - |
GRCh38 GRCh37 |
55 | 69 | |
DST | - | - | GRCh38 | 3729 | 3811 | |
DST-AS1 | - | - | - | GRCh38 | - | 18 |
ELOVL5 | - | - |
GRCh38 GRCh37 |
117 | 130 | |
FAM83B | - | - | - |
GRCh38 GRCh37 |
58 | 70 |
GCLC | - | - |
GRCh38 GRCh37 |
80 | 160 | |
GCLC-AS1 | - | - | - | GRCh38 | - | 64 |
There are 80 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV002481089.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 02, 2023