ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20p13(chr20:2802218-4019837)x1
Germline
Classification
(1)
Uncertain significance
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 | |||
ADAM33 | - | - |
GRCh38 GRCh37 |
63 | 109 | |
ADISSP | - | - |
GRCh38 GRCh37 |
1 | 37 | |
AP5S1 | - | - |
GRCh38 GRCh37 |
24 | 68 | |
ATRN | - | - |
GRCh38 GRCh37 |
293 | 382 | |
AVP | - | - |
GRCh38 GRCh37 |
83 | 125 | |
CDC25B | - | - |
GRCh38 GRCh37 |
24 | 79 | |
CENPB | - | - |
GRCh38 GRCh37 |
28 | 72 | |
DDRGK1 | - | - |
GRCh38 GRCh37 |
104 | 165 | |
DNAAF9 | - | - |
GRCh38 GRCh37 |
4 | 53 | |
FASTKD5 | - | - |
GRCh38 GRCh37 |
- | 94 |
There are 18 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 |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jun 22, 2015 | RCV000511017.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024