ClinVar Genomic variation as it relates to human health
GRCh37/hg19 10p14-13(chr10:9137489-17227168)
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 | |||
UPF2 | No evidence available | No evidence available |
GRCh38 GRCh37 |
73 | 103 | |
ACBD7 | - | - | - |
GRCh38 GRCh37 |
- | 28 |
BEND7 | - | - | - |
GRCh38 GRCh37 |
34 | 58 |
C1QL3 | - | - |
GRCh38 GRCh37 |
7 | 33 | |
CAMK1D | - | - |
GRCh38 GRCh37 |
13 | 46 | |
CCDC3 | - | - | - |
GRCh38 GRCh37 |
26 | 58 |
CDC123 | - | - |
GRCh38 GRCh37 |
18 | 45 | |
CDNF | - | - |
GRCh38 GRCh37 |
3 | 22 | |
CELF2 | - | - |
GRCh38 GRCh37 |
32 | 80 | |
CUBN | - | - |
GRCh38 GRCh37 |
1772 | 1841 |
There are 28 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) |
|
Mar 15, 2021 | RCV001352639.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022