ClinVar Genomic variation as it relates to human health
GRCh38/hg38 21q22.3(chr21:45138321-46670405)x1
Germline
Classification
(2)
Pathogenic
criteria provided, multiple submitters, no conflicts
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 | |||
DIP2A | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
132 | 243 | |
LSS | No evidence available | No evidence available |
GRCh38 GRCh38 GRCh37 |
266 | 384 | |
ADARB1 | - | - |
GRCh38 GRCh37 |
51 | 162 | |
BNAT1 | - | - | - |
GRCh38 GRCh38 |
- | 128 |
C21orf58 | - | - | - |
GRCh38 GRCh37 |
- | 115 |
COL18A1 | - | - |
GRCh38 GRCh38 GRCh37 |
1825 | 2997 | |
COL18A1-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 45 |
COL18A1-AS2 | - | - | - |
GRCh38 GRCh38 |
- | 47 |
COL6A1 | - | - |
GRCh38 GRCh37 |
1771 | 1880 | |
COL6A2 | - | - |
GRCh38 GRCh37 |
2006 | 2139 |
There are 81 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (2) |
|
Aug 12, 2011 | RCV000052864.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024