ClinVar Genomic variation as it relates to human health
NC_000001.10:g.(?_160011163)_(160111132_?)dup
Germline
Classification
(2)
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 | |||
ATP1A2 | - | - |
GRCh38 GRCh37 |
1199 | 1311 | |
IGSF8 | - | - |
GRCh38 GRCh37 |
51 | 67 | |
KCNJ10 | - | - |
GRCh38 GRCh37 |
380 | 399 | |
KCNJ9 | - | - |
GRCh38 GRCh37 |
12 | 27 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 20, 2018 | RCV000557097.6 | |
Uncertain significance (1) |
|
Aug 20, 2018 | RCV001343836.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023