ClinVar Genomic variation as it relates to human health
NC_000021.9:g.34799252_36071979del
Germline
Classification
(1)
Likely 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 | |
CBR1 | - | - |
GRCh38 GRCh37 |
- | 87 | |
CBR1-AS1 | - | - | - | GRCh38 | - | 58 |
LINC01436 | - | - | - | GRCh38 | - | 33 |
LOC100506403 | - | - | - | GRCh38 | - | 33 |
LOC101928269 | - | - | - | GRCh38 | 1 | 34 |
LOC109648314 | - | - | - | GRCh38 | - | 33 |
LOC109648316 | - | - | - | GRCh38 | - | 34 |
LOC109648317 | - | - | - | GRCh38 | - | 31 |
LOC112694741 | - | - | - | GRCh38 | - | 31 |
There are 40 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Likely pathogenic (1) |
|
- | RCV001818111.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024