ClinVar Genomic variation as it relates to human health
GRCh37/hg19 14q32.2(chr14:100678749-101242671)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 | |||
DLK1 | No evidence available | No evidence available |
GRCh38 GRCh37 |
59 | 98 | |
BEGAIN | - | - |
GRCh38 GRCh37 |
26 | 66 | |
SLC25A29 | - | - |
GRCh38 GRCh37 |
22 | 59 | |
SLC25A47 | - | - |
GRCh38 GRCh37 |
36 | 75 | |
WARS1 | - | - |
GRCh38 GRCh37 |
79 | 118 | |
WDR25 | - | - |
GRCh38 GRCh37 |
33 | 73 | |
YY1 | - | - |
GRCh38 GRCh37 |
85 | 131 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
- | RCV003987059.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 30, 2024