ClinVar Genomic variation as it relates to human health
GRCh38/hg38 18q12.2(chr18:36798395-37271836)x3
Germline
Classification
(1)
Benign
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 | |||
CELF4 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
32 | 91 | |
KIAA1328 | - | - |
GRCh38 GRCh37 |
48 | 110 | |
LOC105372069 | - | - | - | GRCh38 | - | 25 |
LOC110120900 | - | - | - | GRCh38 | - | 25 |
LOC125371409 | - | - | - | GRCh38 | - | 25 |
LOC130062394 | - | - | - | GRCh38 | - | 23 |
LOC130062395 | - | - | - | GRCh38 | - | 24 |
TPGS2 | - | - |
GRCh38 GRCh37 |
11 | 67 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Oct 14, 2010 | RCV000135918.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024