ClinVar Genomic variation as it relates to human health
GRCh38/hg38 21q22.3(chr21:45084236-45991858)x3
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
ADARB1 | - | - |
GRCh38 GRCh37 |
60 | 174 | |
BNAT1 | - | - | - |
GRCh38 GRCh38 |
- | 128 |
COL18A1 | - | - |
GRCh38 GRCh38 GRCh37 |
1840 | 3024 | |
COL18A1-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 45 |
COL18A1-AS2 | - | - | - |
GRCh38 GRCh38 |
- | 47 |
COL6A1 | - | - |
GRCh38 GRCh37 |
1780 | 1892 | |
LINC00205 | - | - | - | GRCh38 | - | 47 |
LINC00315 | - | - | - | GRCh37 | - | 110 |
LINC00316 | - | - | - | GRCh38 | - | 47 |
LINC00334 | - | - | - |
GRCh38 GRCh37 |
- | 109 |
There are 38 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) |
|
Aug 12, 2011 | RCV000052831.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023