ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19q13.43(chr19:58407283-58581129)x1
Germline
Classification
(1)
Likely 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 | |||
CHMP2A | - | - |
GRCh38 GRCh37 |
8 | 17 | |
LOC112577454 | - | - | - | GRCh38 | - | 10 |
LOC125384553 | - | - | - | GRCh38 | - | 10 |
LOC130065222 | - | - | - | GRCh38 | - | 12 |
LOC130065223 | - | - | - | GRCh38 | - | 12 |
LOC130065224 | - | - | - | GRCh38 | - | 10 |
LOC130065225 | - | - | - | GRCh38 | - | 10 |
LOC130065226 | - | - | - | GRCh38 | - | 10 |
LOC130065227 | - | - | - | GRCh38 | - | 10 |
LOC130065228 | - | - | - | GRCh38 | - | 10 |
There are 33 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Likely benign (1) |
|
Nov 30, 2010 | RCV000135198.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023