ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20p13(chr20:2738670-3054217)x3
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 | |||
C20orf141 | - | - | - |
GRCh38 GRCh37 |
2 | 33 |
CPXM1 | - | - |
GRCh38 GRCh37 |
48 | 79 | |
EBF4 | - | - |
GRCh38 GRCh37 |
49 | 83 | |
GNRH2 | - | - |
GRCh38 GRCh37 |
6 | 49 | |
MRPS26 | - | - |
GRCh38 GRCh37 |
4 | 54 | |
OXT | - | - |
GRCh38 GRCh37 |
4 | 48 | |
PCED1A | - | - | - |
GRCh38 GRCh37 |
18 | 68 |
PTPRA | - | - |
GRCh38 GRCh37 |
35 | 120 | |
TMEM239 | - | - | - |
GRCh38 GRCh37 |
16 | 50 |
VPS16 | - | - |
GRCh38 GRCh37 |
75 | 161 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jan 24, 2018 | RCV000846074.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022