ClinVar Genomic variation as it relates to human health
GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3
Germline
Classification
(1)
Pathogenic
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 |
45 | 89 | |
ADISSP | - | - |
GRCh38 GRCh37 |
- | 32 | |
ADRA1D | - | - |
GRCh38 GRCh37 |
34 | 66 | |
AP5S1 | - | - |
GRCh38 GRCh37 |
17 | 59 | |
ATRN | - | - |
GRCh38 GRCh37 |
265 | 348 | |
AVP | - | - |
GRCh38 GRCh37 |
74 | 115 | |
BMP2 | - | - |
GRCh38 GRCh37 |
169 | 199 | |
C20orf141 | - | - | - |
GRCh38 GRCh37 |
2 | 33 |
CASC20 | - | - | - | GRCh38 | - | 13 |
CDC25B | - | - |
GRCh38 GRCh37 |
17 | 64 |
There are 292 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) |
|
Oct 24, 2012 | RCV000142917.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023