ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20p13(chr20:241301-584723)x3
Germline
Classification
(1)
Uncertain significance
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 |
170 | 246 | |
C20orf96 | - | - | - |
GRCh38 GRCh37 |
5 | 67 |
DEFB132 | - | - | - |
GRCh38 GRCh37 |
11 | 72 |
NRSN2 | - | - |
GRCh38 GRCh37 |
20 | 84 | |
RBCK1 | - | - |
GRCh38 GRCh37 |
476 | 554 | |
SOX12 | - | - |
GRCh38 GRCh37 |
3 | 91 | |
TBC1D20 | - | - |
GRCh38 GRCh37 |
124 | 220 | |
TCF15 | - | - |
GRCh38 GRCh37 |
17 | 89 | |
TRIB3 | - | - |
GRCh38 GRCh37 |
40 | 106 | |
ZCCHC3 | - | - |
GRCh38 GRCh37 |
5 | 73 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Jan 20, 2016 | RCV000240241.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023