ClinVar Genomic variation as it relates to human health
NC_000001.11:g.(?_3069240)_(3433831_?)del
Germline
Classification
(1)
Uncertain significance
criteria provided, single submitter
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 | |||
LOC105378604 | - | - | - | GRCh38 | - | 54 |
LOC110120751 | - | - | - | GRCh38 | - | 55 |
LOC110121223 | - | - | - | GRCh38 | - | 52 |
LOC112577578 | - | - | - | GRCh38 | - | 58 |
LOC112577579 | - | - | - | GRCh38 | - | 53 |
LOC120851201 | - | - | - | GRCh38 | - | 54 |
LOC121967052 | - | - | - | GRCh38 | - | 52 |
LOC124903827 | - | - | - | GRCh38 | - | 74 |
LOC126805583 | - | - | - | GRCh38 | - | 59 |
LOC126805584 | - | - | - | GRCh38 | - | 55 |
There are 6 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Apr 11, 2017 | RCV000544980.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023