ClinVar Genomic variation as it relates to human health
GRCh38/hg38 20p11.22-q11.1(chr20:22061586-30285812)x3
Germline
Classification
(1)
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 | |||
ABHD12 | - | - |
GRCh38 GRCh37 |
376 | 560 | |
ACSS1 | - | - |
GRCh38 GRCh37 |
34 | 56 | |
APMAP | - | - |
GRCh38 GRCh37 |
30 | 51 | |
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 |
There are 166 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053000.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024