ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20p11.22-11.21(chr20:21680345-24383453)x1
Germline
Classification
(1)
Likely pathogenic
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 | |||
CD93 | - | - |
GRCh38 GRCh37 |
46 | 68 | |
CST1 | - | - |
GRCh38 GRCh37 |
23 | 46 | |
CST11 | - | - |
GRCh38 GRCh37 |
- | 34 | |
CST2 | - | - |
GRCh38 GRCh37 |
23 | 47 | |
CST3 | - | - |
GRCh38 GRCh37 |
19 | 62 | |
CST4 | - | - |
GRCh38 GRCh37 |
23 | 45 | |
CST5 | - | - |
GRCh38 GRCh37 |
18 | 40 | |
CST8 | - | - |
GRCh38 GRCh37 |
9 | 33 | |
CST9 | - | - |
GRCh38 GRCh37 |
14 | 37 | |
CST9L | - | - |
GRCh38 GRCh37 |
7 | 31 |
There are 9 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
Oct 5, 2017 | RCV000663385.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022