ClinVar Genomic variation as it relates to human health
GRCh38/hg38 18q21.31-21.32(chr18:58251999-58789954)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
ALPK2 | - | - |
GRCh38 GRCh37 |
1924 | 2976 | |
LINC03110 | - | - | - | GRCh38 | - | 30 |
LOC105372145 | - | - | - | GRCh38 | - | 30 |
LOC114803473 | - | - | - | GRCh38 | - | 300 |
LOC125371430 | - | - | - | GRCh38 | - | 30 |
LOC126862763 | - | - | - | GRCh38 | - | 53 |
LOC126862764 | - | - | - | GRCh38 | - | 579 |
LOC130062574 | - | - | - | GRCh38 | - | 30 |
LOC130062575 | - | - | - | GRCh38 | - | 30 |
LOC130062576 | - | - | - | GRCh38 | - | 30 |
There are 21 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
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000054085.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023