ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)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 | |||
PAX6 | Sufficient evidence for dosage pathogenicity | Little evidence for dosage pathogenicity |
GRCh38 GRCh37 |
685 | 889 | |
WT1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
910 | 1665 | |
ABTB2 | - | - | - |
GRCh38 GRCh37 |
82 | 106 |
ANO3 | - | - |
GRCh38 GRCh37 |
484 | 556 | |
APIP | - | - |
GRCh38 GRCh37 |
12 | 48 | |
ARL14EP | - | - |
GRCh38 GRCh37 |
13 | 33 | |
BBOX1 | - | - |
GRCh38 GRCh37 |
- | 59 | |
BDNF | - | - |
GRCh38 GRCh37 |
7 | 100 | |
BDNF-AS | - | - |
GRCh38 GRCh37 |
- | 95 | |
C11orf91 | - | - | - |
GRCh38 GRCh37 |
3 | 24 |
There are 40 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Apr 22, 2014 | RCV000512014.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024