ClinVar Genomic variation as it relates to human health
GRCh38/hg38 11q22.1-22.3(chr11:101452984-104044105)x3
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 | |||
YAP1 | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
67 | 92 | |
ANGPTL5 | - | - |
GRCh38 GRCh37 |
19 | 48 | |
BIRC2 | - | - |
GRCh38 GRCh37 |
37 | 63 | |
BIRC3 | - | - |
GRCh38 GRCh37 |
30 | 55 | |
CEP126 | - | - |
GRCh38 GRCh37 |
64 | 95 | |
CFAP300 | - | - |
GRCh38 GRCh37 |
87 | 110 | |
DCUN1D5 | - | - |
GRCh38 GRCh37 |
2 | 28 | |
DDI1 | - | - | - |
GRCh38 GRCh37 |
- | 66 |
DYNC2H1 | - | - |
GRCh38 GRCh37 |
3503 | 3536 | |
LOC102723838 | - | - | - | GRCh38 | - | 6 |
There are 65 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Oct 14, 2010 | RCV000136846.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024