ClinVar Genomic variation as it relates to human health
GRCh37/hg19 17q12(chr17:34437475-36214026)
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 |
630 | 844 | |
AATF | - | - |
GRCh38 GRCh38 GRCh37 |
47 | 176 | |
ACACA | - | - |
GRCh38 GRCh38 GRCh37 |
260 | 398 | |
C17orf78 | - | - | - |
GRCh38 GRCh38 GRCh37 |
- | 133 |
CCL3L1 | - | - |
GRCh38 GRCh37 |
4 | 28 | |
CCL3L3 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
1 | 38 | |
CCL4L1 | - | - |
GRCh38 GRCh37 |
- | 27 | |
CCL4L2 | - | - |
GRCh38 GRCh38 GRCh38 GRCh37 |
1 | 42 | |
DDX52 | - | - |
GRCh38 GRCh38 GRCh37 |
29 | 158 | |
DHRS11 | - | - |
GRCh38 GRCh38 GRCh37 |
22 | 147 |
There are 12 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) |
|
Nov 1, 2018 | RCV000767740.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Mar 26, 2023