ClinVar Genomic variation as it relates to human health
NC_000021.9:g.(?_34787801)_(35048958_?)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 | |||
RUNX1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1236 | 1578 | |
LOC109648314 | - | - | - | GRCh38 | - | 33 |
LOC109648316 | - | - | - | GRCh38 | - | 34 |
LOC121627920 | - | - | - | GRCh38 | - | 33 |
LOC121627921 | - | - | - | GRCh38 | - | 33 |
LOC125418065 | - | - | - | GRCh38 | - | 33 |
LOC125418066 | - | - | - | GRCh38 | - | 33 |
LOC126653354 | - | - | - | GRCh38 | - | 34 |
LOC126653355 | - | - | - | GRCh38 | - | 33 |
LOC130066593 | - | - | - | GRCh38 | - | 33 |
There are 15 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Nov 18, 2016 | RCV000476777.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 17, 2023