ClinVar Genomic variation as it relates to human health
GRCh38/hg38 21q21.1-21.2(chr21:15341716-22826315)x1
Germline
Classification
(1)
Pathogenic
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 | |||
BTG3 | - | - |
GRCh38 GRCh38 GRCh37 |
- | 96 | |
BTG3-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 43 |
C21orf91 | - | - | - |
GRCh38 GRCh37 |
1 | 80 |
C21orf91-OT1 | - | - | - | GRCh38 | - | 43 |
CHODL | - | - |
GRCh38 GRCh37 |
12 | 95 | |
CHODL-AS1 | - | - | - | GRCh38 | - | 43 |
CXADR | - | - |
GRCh38 GRCh37 |
28 | 125 | |
LINC00308 | - | - | - |
GRCh38 GRCh38 |
- | 40 |
LINC00317 | - | - | - | GRCh38 | - | 39 |
LINC00320 | - | - | - | GRCh38 | - | 44 |
There are 68 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
|
Pathogenic (1) |
|
Dec 22, 2010 | RCV000136931.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024