ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20p13-12.3(chr20:3034557-5524417)x1
Germline
Classification
(1)
Likely 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 |
58 | 102 | |
ADISSP | - | - | - |
GRCh38 GRCh37 |
1 | 35 |
ADRA1D | - | - |
GRCh38 GRCh37 |
41 | 73 | |
AP5S1 | - | - |
GRCh38 GRCh37 |
21 | 63 | |
ATRN | - | - |
GRCh38 GRCh37 |
283 | 367 | |
AVP | - | - |
GRCh38 GRCh37 |
78 | 119 | |
CDC25B | - | - |
GRCh38 GRCh37 |
18 | 70 | |
CDS2 | - | - |
GRCh38 GRCh37 |
14 | 49 | |
CENPB | - | - |
GRCh38 GRCh37 |
26 | 68 | |
DDRGK1 | - | - |
GRCh38 GRCh37 |
101 | 160 |
There are 28 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) |
|
Jul 7, 2022 | RCV003158005.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 09, 2023