ClinVar Genomic variation as it relates to human health
NC_000002.11:g.(?_29119585)_(29450548_?)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 | |||
ALK | No evidence available | No evidence available |
GRCh38 GRCh37 |
5119 | 5159 | |
CLIP4 | - | - | - |
GRCh38 GRCh37 |
39 | 68 |
PCARE | - | - |
GRCh38 GRCh37 |
1075 | 1104 | |
TOGARAM2 | - | - | - |
GRCh38 GRCh37 |
105 | 133 |
WDR43 | - | - |
GRCh38 GRCh37 |
33 | 61 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
May 27, 2020 | RCV001362812.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024