ClinVar Genomic variation as it relates to human health
GRCh37/hg19 11q22.1-22.3(chr11:99059204-103281943)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
YAP1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
67 | 93 | |
ANGPTL5 | - | - |
GRCh38 GRCh37 |
19 | 48 | |
ARHGAP42 | - | - |
GRCh38 GRCh37 |
38 | 84 | |
BIRC2 | - | - |
GRCh38 GRCh37 |
37 | 63 | |
BIRC3 | - | - |
GRCh38 GRCh37 |
30 | 55 | |
CEP126 | - | - |
GRCh38 GRCh37 |
64 | 95 | |
CFAP300 | - | - |
GRCh38 GRCh37 |
87 | 111 | |
CNTN5 | - | - |
GRCh38 GRCh37 |
122 | 159 | |
DCUN1D5 | - | - |
GRCh38 GRCh37 |
2 | 28 | |
DYNC2H1 | - | - |
GRCh38 GRCh37 |
3522 | 3555 |
There are 14 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 8, 2022 | RCV002472738.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 31, 2022