ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20p13-12.2(chr20:61569-9542361)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 | |||
CSNK2A1 | Some evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
169 | 245 | |
ADAM33 | - | - |
GRCh38 GRCh37 |
58 | 102 | |
ADISSP | - | - |
GRCh38 GRCh37 |
1 | 35 | |
ADRA1D | - | - |
GRCh38 GRCh37 |
41 | 73 | |
ANGPT4 | - | - |
GRCh38 GRCh37 |
33 | 89 | |
AP5S1 | - | - |
GRCh38 GRCh37 |
21 | 63 | |
ATRN | - | - |
GRCh38 GRCh37 |
283 | 367 | |
AVP | - | - |
GRCh38 GRCh37 |
79 | 120 | |
BMP2 | - | - |
GRCh38 GRCh37 |
173 | 203 | |
C20orf141 | - | - | - |
GRCh38 GRCh37 |
2 | 33 |
There are 92 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 19, 2023 | RCV003485207.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Feb 04, 2024