ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q13.3(chr13:35531798-39607778)
Germline
Classification
(1)
Likely 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 |
506 | 588 | |
ALG5 | - | - |
GRCh38 GRCh37 |
28 | 82 | |
CCDC169 | - | - | - |
GRCh38 GRCh37 |
- | 55 |
CCDC169-SOHLH2 | - | - | - |
GRCh38 GRCh37 |
- | 91 |
CCNA1 | - | - |
GRCh38 GRCh37 |
24 | 84 | |
CSNK1A1L | - | - | - |
GRCh38 GRCh37 |
14 | 63 |
DCLK1 | - | - |
GRCh38 GRCh37 |
16 | 69 | |
EXOSC8 | - | - |
GRCh38 GRCh37 |
90 | 150 | |
FREM2 | - | - |
GRCh38 GRCh37 |
1867 | 1929 | |
MAB21L1 | - | - |
GRCh38 GRCh37 |
- | 75 |
There are 11 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 |
---|---|---|---|---|
Likely pathogenic (1) |
|
Mar 1, 2022 | RCV002053049.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Aug 16, 2022