ClinVar Genomic variation as it relates to human health
NC_000016.9:g.(?_78133656)_(78658393_?)dup
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 | |||
LOC110120570 | - | - | - | GRCh38 | - | 29 |
LOC112486209 | - | - | - | GRCh38 | - | 34 |
LOC121587562 | - | - | - | GRCh38 | - | 25 |
LOC125177355 | - | - | - | GRCh38 | - | 26 |
LOC132090428 | - | - | - | GRCh38 | - | 28 |
LOC132090429 | - | - | - | GRCh38 | - | 28 |
LOC132090430 | - | - | - | GRCh38 | - | 26 |
LOC132090431 | - | - | - | GRCh38 | - | 29 |
LOC132090432 | - | - | - | GRCh38 | - | 30 |
LOC132090433 | - | - | - | GRCh38 | - | 30 |
There are 4 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) |
|
Nov 23, 2019 | RCV000708017.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023