ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q22.3(chr14:55615073-58043694)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 | |||
OTX2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
242 | 256 | |
AP5M1 | - | - |
GRCh38 GRCh37 |
17 | 35 | |
ATG14 | - | - |
GRCh38 GRCh37 |
- | 29 | |
CCDC198 | - | - | - |
GRCh38 GRCh37 |
1 | 18 |
DLGAP5 | - | - |
GRCh38 GRCh37 |
33 | 47 | |
EXOC5 | - | - |
GRCh38 GRCh37 |
17 | 35 | |
FBXO34 | - | - |
GRCh38 GRCh37 |
28 | 75 | |
KTN1 | - | - |
GRCh38 GRCh37 |
10 | 22 | |
NAA30 | - | - |
GRCh38 GRCh37 |
15 | 32 | |
PELI2 | - | - |
GRCh38 GRCh37 |
15 | 33 |
There are 3 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Feb 27, 2019 | RCV001006636.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022