ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12q24.32-24.33(chr12:126403612-133166920)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 | |||
POLE | Little evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
9143 | 9356 | |
ADGRD1 | - | - |
GRCh38 GRCh37 |
47 | 70 | |
ADGRD1-AS1 | - | - | - | GRCh38 | - | 12 |
ANKLE2 | - | - |
GRCh38 GRCh37 |
251 | 285 | |
CHFR | - | - |
GRCh38 GRCh37 |
46 | 82 | |
CHFR-DT | - | - | - | GRCh38 | - | 11 |
DDX51 | - | - | - |
GRCh38 GRCh38 GRCh37 |
81 | 122 |
EP400 | - | - |
GRCh38 GRCh37 |
368 | 435 | |
FBRSL1 | - | - |
GRCh38 GRCh37 |
166 | 200 | |
FZD10 | - | - |
GRCh38 GRCh37 |
30 | 49 |
There are 258 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 |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000053715.6 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023