ClinVar Genomic variation as it relates to human health
NC_000003.11:g.(?_120365818)_(133465047_?)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 | |||
GATA2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1492 | 1527 | |
MYLK | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
1766 | 2098 | |
COL6A5 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
173 | 189 | |
CASR | No evidence available | No evidence available |
GRCh38 GRCh37 |
2694 | 2717 | |
ABTB1 | - | - |
GRCh38 GRCh37 |
45 | 60 | |
ACAD11 | - | - |
GRCh38 GRCh37 |
- | 66 | |
ACAD9 | - | - |
GRCh38 GRCh37 |
780 | 1051 | |
ACKR4 | - | - |
GRCh38 GRCh37 |
- | 20 | |
ACP3 | - | - |
GRCh38 GRCh37 |
25 | 39 | |
ADCY5 | - | - |
GRCh38 GRCh37 |
743 | 771 |
There are 101 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Dec 5, 2020 | RCV002035459.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jun 10, 2024