ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q12(chr17:34508117-36248918)x3
Germline
Classification
(2)
Pathogenic
criteria provided, multiple submitters, no conflicts
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 |
598 | 808 | |
AATF | - | - |
GRCh38 GRCh38 GRCh37 |
33 | 160 | |
ACACA | - | - |
GRCh38 GRCh38 GRCh37 |
239 | 375 | |
C17orf78 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 131 |
CCL3L3 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
1 | 38 | |
CCL4L2 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
1 | 42 | |
DDX52 | - | - |
GRCh38 GRCh38 GRCh37 |
20 | 146 | |
DHRS11 | - | - |
GRCh38 GRCh38 GRCh37 |
11 | 134 | |
DUSP14 | - | - |
GRCh38 GRCh38 GRCh37 |
9 | 134 | |
GGNBP2 | - | - |
GRCh38 GRCh38 GRCh37 |
20 | 147 |
There are 31 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 |
---|---|---|---|---|
Pathogenic (2) |
|
Aug 12, 2011 | RCV000148166.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023