ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)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 |
668 | 870 | |
WT1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
896 | 1644 | |
ABTB2 | - | - | - |
GRCh38 GRCh37 |
75 | 99 |
APIP | - | - |
GRCh38 GRCh37 |
11 | 47 | |
ARL14EP | - | - |
GRCh38 GRCh37 |
11 | 31 | |
BDNF | - | - |
GRCh38 GRCh37 |
7 | 97 | |
BDNF-AS | - | - |
GRCh38 GRCh37 |
- | 92 | |
C11orf91 | - | - | - |
GRCh38 GRCh37 |
3 | 24 |
CAPRIN1 | - | - |
GRCh38 GRCh37 |
44 | 63 | |
CAT | - | - |
GRCh38 GRCh37 |
40 | 63 |
There are 42 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 14, 2018 | RCV000511434.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024