ClinVar Genomic variation as it relates to human health
NC_000001.10:g.(?_112318699)_(115576848_?)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 | |||
MOV10 | No evidence available | No evidence available |
GRCh38 GRCh37 |
50 | 72 | |
AMPD1 | - | - |
GRCh38 GRCh37 |
498 | 511 | |
AP4B1 | - | - |
GRCh38 GRCh37 |
110 | 424 | |
BCAS2 | - | - |
GRCh38 GRCh37 |
7 | 20 | |
BCL2L15 | - | - |
GRCh38 GRCh37 |
- | 20 | |
CAPZA1 | - | - |
GRCh38 GRCh37 |
19 | 40 | |
CSDE1 | - | - |
GRCh38 GRCh37 |
82 | 97 | |
CTTNBP2NL | - | - |
GRCh38 GRCh37 |
36 | 49 | |
DCLRE1B | - | - |
GRCh38 GRCh37 |
131 | 168 | |
DENND2C | - | - | - |
GRCh38 GRCh37 |
33 | 55 |
There are 20 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) |
|
Jun 2, 2022 | RCV003109541.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Nov 11, 2023