ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q12(chr17:34425363-36404555)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 |
603 | 815 | |
AATF | - | - |
GRCh38 GRCh38 GRCh37 |
44 | 173 | |
ACACA | - | - |
GRCh38 GRCh38 GRCh37 |
248 | 386 | |
C17orf78 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 133 |
CCL3L1 | - | - |
GRCh38 GRCh37 |
4 | 28 | |
CCL3L3 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
1 | 38 | |
CCL4 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
3 | 21 | |
CCL4L1 | - | - |
GRCh38 GRCh37 |
- | 27 | |
CCL4L2 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
1 | 42 | |
DDX52 | - | - |
GRCh38 GRCh38 GRCh37 |
28 | 156 |
There are 15 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) |
|
Sep 17, 2021 | RCV002472574.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023