ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)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 | |||
PIK3R2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
349 | 423 | |
ABHD8 | - | - | - |
GRCh38 GRCh37 |
- | 31 |
AKAP8 | - | - |
GRCh38 GRCh37 |
80 | 100 | |
AKAP8L | - | - |
GRCh38 GRCh37 |
24 | 49 | |
ANKLE1 | - | - |
GRCh38 GRCh37 |
58 | 76 | |
ANO8 | - | - |
GRCh38 GRCh37 |
56 | 80 | |
AP1M1 | - | - |
GRCh38 GRCh37 |
11 | 28 | |
ARMC6 | - | - | - |
GRCh38 GRCh37 |
27 | 37 |
ARRDC2 | - | - | - |
GRCh38 GRCh37 |
21 | 35 |
ATP13A1 | - | - |
GRCh38 GRCh37 |
64 | 90 |
There are 566 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) |
|
Dec 22, 2010 | RCV000136696.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023