ClinVar Genomic variation as it relates to human health
GRCh37/hg19 20q13.33(chr20:62603908-62857300)x1
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 | |||
LKAAEAR1 | - | - | - |
GRCh38 GRCh37 |
- | 65 |
MYT1 | - | - |
GRCh38 GRCh38 GRCh37 |
118 | 170 | |
NPBWR2 | - | - |
GRCh38 GRCh38 GRCh37 |
33 | 77 | |
OPRL1 | - | - |
GRCh38 GRCh38 GRCh37 |
18 | 84 | |
PRPF6 | - | - |
GRCh38 GRCh37 |
573 | 674 | |
RGS19 | - | - |
GRCh38 GRCh37 |
15 | 60 | |
SAMD10 | - | - | - |
GRCh38 GRCh37 |
18 | 68 |
SOX18 | - | - |
GRCh38 GRCh37 |
108 | 167 | |
TCEA2 | - | - |
GRCh38 GRCh37 |
15 | 61 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Apr 19, 2015 | RCV000512532.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024