ClinVar Genomic variation as it relates to human health
GRCh38/hg38 2q13(chr2:110025459-110207301)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 | |||
LOC126806305 | - | - | - | GRCh38 | - | 54 |
LOC126806306 | - | - | - | GRCh38 | - | 85 |
MALL | - | - |
GRCh38 GRCh37 |
1 | 157 | |
MIR4267 | - | - | - | GRCh38 | - | 24 |
MIR4436B1 | - | - | - | GRCh38 | - | 30 |
NPHP1 | - | - |
GRCh38 GRCh37 |
865 | 1051 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Benign (1) |
|
Jul 30, 2009 | RCV000135422.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023