ClinVar Genomic variation as it relates to human health
GRCh38/hg38 18p11.32-11.31(chr18:131700-3279166)x1
Germline
Classification
(1)
Pathogenic
criteria provided, single submitter
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 | |||
ADCYAP1 | - | - |
GRCh38 GRCh37 |
11 | 163 | |
CETN1 | - | - |
GRCh38 GRCh37 |
8 | 161 | |
CLUL1 | - | - |
GRCh38 GRCh37 |
27 | 187 | |
COLEC12 | - | - |
GRCh38 GRCh37 |
52 | 200 | |
EMILIN2 | - | - |
GRCh38 GRCh37 |
93 | 272 | |
ENOSF1 | - | - |
GRCh38 GRCh37 |
40 | 208 | |
LINC00470 | - | - | - | GRCh38 | - | 68 |
LINC01904 | - | - | - | GRCh38 | - | 63 |
LINC01925 | - | - | - | GRCh38 | - | 64 |
LOC112538442 | - | - | - | GRCh38 | - | 67 |
There are 75 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053460.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023