ClinVar Genomic variation as it relates to human health
GRCh38/hg38 19p13.2(chr19:7595411-7633304)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
CAMSAP3 | - | - |
GRCh38 GRCh37 |
52 | 64 | |
LOC121627854 | - | - | - | GRCh38 | - | 4 |
LOC130063378 | - | - | - | GRCh38 | - | 3 |
LOC130063379 | - | - | - | GRCh38 | - | 5 |
LOC130063380 | - | - | - | GRCh38 | - | 10 |
MIR6792 | - | - | - | GRCh38 | - | 3 |
PCP2 | - | - |
GRCh38 GRCh37 |
- | 25 | |
PET100 | - | - |
GRCh38 GRCh37 |
4 | 105 | |
STXBP2 | - | - |
GRCh38 GRCh37 |
1058 | 1168 | |
XAB2 | - | - |
GRCh38 GRCh37 |
39 | 52 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 30, 2011 | RCV000140171.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023