ClinVar Genomic variation as it relates to human health
GRCh37/hg19 18p11.32(chr18:351499-825957)x3
Germline
Classification
(1)
Likely 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 | |||
CETN1 | - | - |
GRCh38 GRCh37 |
8 | 161 | |
CLUL1 | - | - |
GRCh38 GRCh37 |
27 | 187 | |
COLEC12 | - | - |
GRCh38 GRCh37 |
52 | 200 | |
ENOSF1 | - | - |
GRCh38 GRCh37 |
40 | 208 | |
TYMS | - | - |
GRCh38 GRCh37 |
4 | 179 | |
TYMSOS | - | - | - |
GRCh38 GRCh37 |
- | 164 |
YES1 | - | - |
GRCh38 GRCh37 |
27 | 184 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Mar 27, 2020 | RCV001258704.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022