ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q12(chr17:35958761-36224189)x3
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 | |||
HNF1B | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh38 GRCh37 |
617 | 830 | |
DDX52 | - | - |
GRCh38 GRCh38 GRCh37 |
29 | 158 | |
LOC105371756 | - | - | - |
GRCh38 GRCh38 |
- | 48 |
LOC112529910 | - | - | - |
GRCh38 GRCh38 |
- | 40 |
LOC126862547 | - | - | - |
GRCh38 GRCh38 |
- | 49 |
LOC126862548 | - | - | - |
GRCh38 GRCh38 |
- | 47 |
LOC126862549 | - | - | - |
GRCh38 GRCh38 |
- | 128 |
MIR378J | - | - | - |
GRCh38 GRCh38 |
- | 46 |
SYNRG | - | - |
GRCh38 GRCh38 GRCh37 |
78 | 225 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000052478.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023