ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q12(chr17:34752221-36105007)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 |
DDX52 | - | - |
GRCh38 GRCh38 GRCh37 |
28 | 156 | |
DHRS11 | - | - |
GRCh38 GRCh38 GRCh37 |
18 | 143 | |
DUSP14 | - | - |
GRCh38 GRCh38 GRCh37 |
12 | 139 | |
GGNBP2 | - | - |
GRCh38 GRCh38 GRCh37 |
28 | 157 | |
LHX1 | - | - |
GRCh38 GRCh38 GRCh37 |
26 | 155 | |
MRM1 | - | - |
GRCh38 GRCh38 GRCh37 |
24 | 149 |
There are 6 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) |
|
Oct 5, 2022 | RCV003329520.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Sep 30, 2023