ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q22.3(chr14:56345200-56917270)x3
Germline
Classification
(1)
Likely benign
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 | |||
OTX2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
242 | 256 | |
LINC02284 | - | - | - | GRCh38 | - | 6 |
LOC101927690 | - | - | - | GRCh38 | - | 4 |
LOC110121404 | - | - | - | GRCh38 | - | 3 |
LOC126861953 | - | - | - | GRCh38 | - | 4 |
LOC126861954 | - | - | - | GRCh38 | - | 4 |
LOC130055718 | - | - | - | GRCh38 | - | 17 |
LOC132090217 | - | - | - | GRCh38 | - | 4 |
LOC132090218 | - | - | - | GRCh38 | - | 4 |
LOC132090219 | - | - | - | GRCh38 | - | 4 |
There are 5 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Aug 14, 2012 | RCV000139357.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023