ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19q13.33(chr19:49623273-49747363)x3
Germline
Classification
(1)
Benign
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 | |||
PRR12 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
418 | 434 | |
ADM5 | - | - | - |
GRCh38 GRCh37 |
11 | 24 |
BCL2L12 | - | - |
GRCh38 GRCh37 |
18 | 40 | |
CPT1C | - | - |
GRCh38 GRCh37 |
308 | 321 | |
IRF3 | - | - |
GRCh38 GRCh37 |
54 | 68 | |
LOC116286193 | - | - | - | GRCh38 | - | 3 |
LOC121627886 | - | - | - | GRCh38 | - | 3 |
LOC130064934 | - | - | - | GRCh38 | - | 3 |
LOC130064935 | - | - | - | GRCh38 | - | 10 |
LOC130064936 | - | - | - | GRCh38 | - | 5 |
There are 9 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 |
---|---|---|---|---|
Benign (1) |
|
Oct 1, 2010 | RCV000136795.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024