ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19p13.11(chr19:17922234-18463153)x1
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 |
354 | 428 | |
ARRDC2 | - | - | - |
GRCh38 GRCh37 |
24 | 38 |
CCDC124 | - | - | - |
GRCh38 GRCh37 |
17 | 27 |
CIST1 | - | - | - | GRCh38 | - | 6 |
ELL | - | - |
GRCh38 GRCh37 |
40 | 49 | |
GDF15 | - | - |
GRCh38 GRCh37 |
33 | 44 | |
IFI30 | - | - |
GRCh38 GRCh37 |
14 | 25 | |
IL12RB1 | - | - |
GRCh38 GRCh37 |
504 | 521 | |
IQCN | - | - |
GRCh38 GRCh37 |
133 | 144 | |
ISYNA1 | - | - |
GRCh38 GRCh37 |
37 | 46 |
There are 77 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 | RCV000053946.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024