ClinVar Genomic variation as it relates to human health
GRCh38/hg38 13q13.2-13.3(chr13:33754469-36942137)x3
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 | |||
NBEA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
506 | 588 | |
CCDC169 | - | - | - |
GRCh38 GRCh37 |
- | 55 |
CCDC169-SOHLH2 | - | - | - |
GRCh38 GRCh37 |
- | 91 |
CCNA1 | - | - |
GRCh38 GRCh37 |
24 | 84 | |
DCLK1 | - | - |
GRCh38 GRCh37 |
16 | 69 | |
LINC00445 | - | - | - | GRCh38 | - | 27 |
LINC00457 | - | - | - | GRCh38 | - | 26 |
LINC02343 | - | - | - | GRCh38 | - | 27 |
LOC109580097 | - | - | - | GRCh38 | - | 27 |
LOC110121346 | - | - | - | GRCh38 | - | 26 |
There are 45 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Uncertain significance (1) |
|
Aug 12, 2011 | RCV000052004.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023