ClinVar Genomic variation as it relates to human health
GRCh38/hg38 18p11.32(chr18:287678-901105)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 | |||
CETN1 | - | - |
GRCh38 GRCh37 |
6 | 159 | |
CLUL1 | - | - |
GRCh38 GRCh37 |
25 | 185 | |
COLEC12 | - | - |
GRCh38 GRCh37 |
45 | 193 | |
ENOSF1 | - | - |
GRCh38 GRCh37 |
34 | 202 | |
LINC01925 | - | - | - | GRCh38 | - | 64 |
LOC112543431 | - | - | - | GRCh38 | - | 63 |
LOC125338459 | - | - | - | GRCh38 | - | 64 |
LOC125338460 | - | - | - | GRCh38 | - | 65 |
LOC126862675 | - | - | - | GRCh38 | - | 64 |
LOC126862676 | - | - | - | GRCh38 | - | 69 |
There are 10 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Oct 15, 2012 | RCV000143328.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023