ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)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 | |||
CALM1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
98 | 163 | |
ASB2 | - | - |
GRCh38 GRCh38 GRCh37 |
51 | 78 | |
ATXN3 | - | - |
GRCh38 GRCh37 |
29 | 73 | |
BTBD7 | - | - |
GRCh38 GRCh38 GRCh37 |
59 | 85 | |
CATSPERB | - | - |
GRCh38 GRCh38 GRCh37 |
43 | 66 | |
CCDC88C | - | - |
GRCh38 GRCh37 |
1466 | 1513 | |
CHGA | - | - |
GRCh38 GRCh38 GRCh37 |
22 | 47 | |
COX8C | - | - |
GRCh38 GRCh38 GRCh37 |
- | 31 | |
CPSF2 | - | - |
GRCh38 GRCh37 |
30 | 52 | |
DDX24 | - | - |
GRCh38 GRCh38 GRCh37 |
43 | 83 |
There are 40 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 |
---|---|---|---|---|
Pathogenic (1) |
|
May 1, 2023 | RCV003312295.9 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Jul 15, 2024