ClinVar Genomic variation as it relates to human health
NC_000019.9:g.(?_18893725)_(19312528_?)del
Germline
Classification
(1)
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 | |||
ARMC6 | - | - | - |
GRCh38 GRCh37 |
32 | 42 |
BORCS8 | - | - |
GRCh38 GRCh37 |
- | 29 | |
CERS1 | - | - |
GRCh38 GRCh37 |
- | 460 | |
COMP | - | - |
GRCh38 GRCh37 |
657 | 666 | |
COPE | - | - |
GRCh38 GRCh37 |
18 | 28 | |
DDX49 | - | - | - |
GRCh38 GRCh37 |
17 | 28 |
GDF1 | - | - |
GRCh38 GRCh37 |
- | 460 | |
HOMER3 | - | - |
GRCh38 GRCh37 |
30 | 40 | |
MEF2B | - | - |
GRCh38 GRCh37 |
- | 32 | |
NR2C2AP | - | - |
GRCh38 GRCh37 |
7 | 44 |
There are 5 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Mar 31, 2021 | RCV001955725.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023