ClinVar Genomic variation as it relates to human health
GRCh38/hg38 1p12(chr1:119772887-120006962)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 | |||
NOTCH2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
1475 | 1498 | |
ADAM30 | - | - |
GRCh38 GRCh37 |
31 | 51 | |
LOC111776218 | - | - | - | GRCh38 | - | 8 |
LOC120807608 | - | - | - | GRCh38 | - | 3 |
LOC122094911 | - | - | - | GRCh38 | - | 7 |
LOC129388600 | - | - | - | GRCh38 | - | 7 |
REG4 | - | - |
GRCh38 GRCh37 |
7 | 26 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Jul 18, 2014 | RCV000141830.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023