ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18p11.22-11.21(chr18:10594361-11915610)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 | |||
CHMP1B | - | - |
GRCh38 GRCh37 |
- | 120 | |
GNAL | - | - |
GRCh38 GRCh37 |
230 | 363 | |
MPPE1 | - | - |
GRCh38 GRCh37 |
23 | 130 | |
PIEZO2 | - | - |
GRCh38 GRCh37 |
1014 | 1135 | |
SLC35G4 | - | - | - |
GRCh38 GRCh37 |
- | 101 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 27, 2017 | RCV000684023.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022