ClinVar Genomic variation as it relates to human health
GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)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 | |||
DICER1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
6383 | 6421 | |
ASB2 | - | - |
GRCh38 GRCh38 GRCh37 |
51 | 78 | |
ATXN3 | - | - |
GRCh38 GRCh37 |
29 | 73 | |
BTBD7 | - | - |
GRCh38 GRCh38 GRCh37 |
59 | 85 | |
CALM1 | - | - |
GRCh38 GRCh37 |
97 | 162 | |
CATSPERB | - | - |
GRCh38 GRCh38 GRCh37 |
42 | 65 | |
CCDC197 | - | - | - |
GRCh38 GRCh38 |
- | 8 |
CCDC88C | - | - |
GRCh38 GRCh37 |
1462 | 1509 | |
CCDC88C-DT | - | - | - | GRCh38 | - | 6 |
CHGA | - | - |
GRCh38 GRCh38 GRCh37 |
22 | 47 |
There are 193 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
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051551.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023