ClinVar Genomic variation as it relates to human health
NC_000019.10:g.(?_1206904)_(1226657_?)del
Germline
Classification
(1)
Pathogenic
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 | |||
STK11 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
2344 | 2616 | |
LOC110006317 | - | - | - | GRCh38 | - | 22 |
LOC110006318 | - | - | - | GRCh38 | - | 30 |
LOC121627843 | - | - | - | GRCh38 | - | 22 |
LOC125371447 | - | - | - | GRCh38 | - | 25 |
LOC130062896 | - | - | - | GRCh38 | - | 24 |
LOC130062897 | - | - | - | GRCh38 | - | 22 |
LOC130062898 | - | - | - | GRCh38 | - | 22 |
LOC130062899 | - | - | - | GRCh38 | - | 212 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Sep 16, 2021 | RCV000707940.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023