ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q22.1-22.3(chr11:98515900-104970876)x1
Germline
Classification
(1)
Likely 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 | |||
YAP1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
64 | 89 | |
ANGPTL5 | - | - |
GRCh38 GRCh37 |
13 | 41 | |
ARHGAP42 | - | - |
GRCh38 GRCh37 |
27 | 70 | |
BIRC2 | - | - |
GRCh38 GRCh37 |
27 | 53 | |
BIRC3 | - | - |
GRCh38 GRCh37 |
25 | 50 | |
CARD16 | - | - |
GRCh38 GRCh37 |
14 | 44 | |
CARD17 | - | - |
GRCh38 GRCh37 |
8 | 36 | |
CASP1 | - | - |
GRCh38 GRCh37 |
29 | 59 | |
CASP12 | - | - |
GRCh38 GRCh38 GRCh37 |
24 | 52 | |
CASP4 | - | - |
GRCh38 GRCh38 GRCh37 |
17 | 46 |
There are 22 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Apr 22, 2014 | RCV000511844.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023