ClinVar Genomic variation as it relates to human health
GRCh38/hg38 18q21.1-21.2(chr18:50654541-50922497)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 | |||
LOC129390995 | - | - | - | GRCh38 | - | 19 |
LOC130062498 | - | - | - | GRCh38 | - | 19 |
LOC130062499 | - | - | - | GRCh38 | - | 19 |
MAPK4 | - | - |
GRCh38 GRCh37 |
46 | 88 | |
ME2 | - | - |
GRCh38 GRCh37 |
49 | 92 | |
MRO | - | - |
GRCh38 GRCh37 |
17 | 59 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Dec 13, 2010 | RCV000142523.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024