ClinVar Genomic variation as it relates to human health
GRCh38/hg38 13q13.3-14.11(chr13:35232476-41375955)x1
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 | |||
NBEA | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
467 | 544 | |
ALG5 | - | - |
GRCh38 GRCh37 |
25 | 76 | |
CCDC169 | - | - | - |
GRCh38 GRCh37 |
- | 53 |
CCDC169-SOHLH2 | - | - | - |
GRCh38 GRCh37 |
- | 88 |
CCNA1 | - | - |
GRCh38 GRCh37 |
19 | 76 | |
COG6 | - | - |
GRCh38 GRCh37 |
355 | 401 | |
CSNK1A1L | - | - | - |
GRCh38 GRCh37 |
13 | 61 |
DCLK1 | - | - |
GRCh38 GRCh37 |
14 | 67 | |
ELF1 | - | - |
GRCh38 GRCh37 |
34 | 84 | |
EXOSC8 | - | - |
GRCh38 GRCh37 |
89 | 145 |
There are 138 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051375.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023