ClinVar Genomic variation as it relates to human health
GRCh38/hg38 18p11.32(chr18:148963-1949961)x1
Germline
Classification
(1)
Pathogenic
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 | |||
ADCYAP1 | - | - |
GRCh38 GRCh37 |
11 | 163 | |
CETN1 | - | - |
GRCh38 GRCh37 |
6 | 159 | |
CLUL1 | - | - |
GRCh38 GRCh37 |
25 | 185 | |
COLEC12 | - | - |
GRCh38 GRCh37 |
45 | 193 | |
ENOSF1 | - | - |
GRCh38 GRCh37 |
34 | 202 | |
LINC00470 | - | - | - | GRCh38 | - | 68 |
LINC01904 | - | - | - | GRCh38 | - | 63 |
LINC01925 | - | - | - | GRCh38 | - | 64 |
LOC112538442 | - | - | - | GRCh38 | - | 67 |
LOC112543431 | - | - | - | GRCh38 | - | 63 |
There are 26 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 22, 2010 | RCV000137111.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024