ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1
Germline
Classification
(1)
Pathogenic
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 | |||
PAX6 | Sufficient evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
668 | 870 | |
WT1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
896 | 1644 | |
ABTB2 | - | - | - |
GRCh38 GRCh37 |
75 | 99 |
ANO3 | - | - |
GRCh38 GRCh37 |
481 | 551 | |
ANO3-AS1 | - | - | - | GRCh38 | - | 6 |
APIP | - | - |
GRCh38 GRCh37 |
11 | 47 | |
ARL14EP | - | - |
GRCh38 GRCh37 |
11 | 31 | |
ARL14EP-DT | - | - | - | GRCh38 | - | 50 |
BBOX1 | - | - |
GRCh38 GRCh37 |
- | 57 | |
BBOX1-AS1 | - | - | - | GRCh38 | - | 37 |
There are 326 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052648.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023