ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12q24.33(chr12:132576614-133191400)x1
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
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 |
9145 | 9358 | |
ANKLE2 | - | - |
GRCh38 GRCh37 |
253 | 287 | |
CHFR | - | - |
GRCh38 GRCh37 |
46 | 82 | |
CHFR-DT | - | - | - | GRCh38 | - | 11 |
FBRSL1 | - | - |
GRCh38 GRCh37 |
166 | 200 | |
GOLGA3 | - | - |
GRCh38 GRCh37 |
143 | 177 | |
LOC121838571 | - | - | - | GRCh38 | - | 10 |
LOC126861700 | - | - | - | GRCh38 | - | 11 |
LOC126861701 | - | - | - | GRCh38 | - | 16 |
LOC126861702 | - | - | - | GRCh38 | - | 29 |
There are 47 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) |
|
Feb 28, 2010 | RCV000133777.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024