ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3
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 | |||
PIK3R2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
349 | 423 | |
ABHD8 | - | - | - |
GRCh38 GRCh37 |
- | 31 |
ADGRE2 | - | - |
GRCh38 GRCh37 |
447 | 465 | |
ADGRE3 | - | - |
GRCh38 GRCh37 |
27 | 46 | |
ADGRE5 | - | - |
GRCh38 GRCh37 |
33 | 71 | |
ADGRL1 | - | - |
GRCh38 GRCh38 GRCh37 |
4 | 120 | |
ADGRL1-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 107 |
AKAP8 | - | - |
GRCh38 GRCh37 |
80 | 100 | |
AKAP8L | - | - |
GRCh38 GRCh37 |
24 | 49 | |
ANKLE1 | - | - |
GRCh38 GRCh37 |
58 | 76 |
There are 687 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 | RCV000052912.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023