ClinVar Genomic variation as it relates to human health
GRCh37/hg19 13q13.2-14.11(chr13:35060982-44540846)x1
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 | |
AKAP11 | - | - |
GRCh38 GRCh37 |
111 | 169 | |
ALG5 | - | - |
GRCh38 GRCh37 |
28 | 82 | |
CCDC122 | - | - |
GRCh38 GRCh37 |
9 | 59 | |
CCDC169 | - | - | - |
GRCh38 GRCh37 |
- | 55 |
CCDC169-SOHLH2 | - | - | - |
GRCh38 GRCh37 |
- | 91 |
CCNA1 | - | - |
GRCh38 GRCh37 |
24 | 84 | |
COG6 | - | - |
GRCh38 GRCh37 |
361 | 408 | |
CSNK1A1L | - | - | - |
GRCh38 GRCh37 |
14 | 63 |
DCLK1 | - | - |
GRCh38 GRCh37 |
16 | 69 |
There are 34 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
- | RCV003987035.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024