ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q22.2(chr2:142197989-143208649)x3
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 | |||
ARHGAP15 | - | - |
GRCh38 GRCh37 |
16 | - | |
KYNU | - | - |
GRCh38 GRCh37 |
61 | 85 | |
LOC111556162 | - | - | - | GRCh38 | - | - |
LOC126806361 | - | - | - | GRCh38 | - | 6 |
LOC129934865 | - | - | - | GRCh38 | - | 5 |
LOC129934866 | - | - | - | GRCh38 | - | 6 |
LOC129934867 | - | - | - | GRCh38 | - | 4 |
LOC129934868 | - | - | - | GRCh38 | - | 4 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely benign (1) |
|
Jul 18, 2014 | RCV000143645.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023