ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)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 | |||
FZD4 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
75 | 492 | |
DLG2 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
66 | 103 | |
YAP1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
64 | 89 | |
TMEM135 | No evidence available | No evidence available |
GRCh38 GRCh37 |
25 | 46 | |
AMOTL1 | - | - |
GRCh38 GRCh37 |
49 | 69 | |
ANGPTL5 | - | - |
GRCh38 GRCh37 |
13 | 41 | |
ANKRD49 | - | - |
GRCh38 GRCh37 |
- | 33 | |
ARHGAP42 | - | - |
GRCh38 GRCh37 |
27 | 70 | |
ARHGAP42-AS1 | - | - | - | GRCh38 | - | 8 |
BIRC2 | - | - |
GRCh38 GRCh37 |
27 | 53 |
There are 370 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 | RCV000052711.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023