ClinVar Genomic variation as it relates to human health
GRCh38/hg38 18q12.2(chr18:35990843-36963685)x1
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 | |||
COSMOC | - | - | - | GRCh38 | - | 21 |
ELP2 | - | - |
GRCh38 GRCh37 |
134 | 184 | |
FHOD3 | - | - |
GRCh38 GRCh37 |
257 | 316 | |
KIAA1328 | - | - |
GRCh38 GRCh37 |
48 | 110 | |
LOC105372069 | - | - | - | GRCh38 | - | 25 |
LOC105372071 | - | - | - | GRCh38 | - | 21 |
LOC121627829 | - | - | - | GRCh38 | - | 21 |
LOC125371408 | - | - | - | GRCh38 | - | 21 |
LOC129390985 | - | - | - | GRCh38 | - | 21 |
LOC129390986 | - | - | - | GRCh38 | - | 21 |
There are 15 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) |
|
Mar 18, 2014 | RCV000142344.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024