ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12q24.33(chr12:131650542-133191400)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 |
9003 | 9213 | |
ANKLE2 | - | - |
GRCh38 GRCh37 |
238 | 271 | |
CHFR | - | - |
GRCh38 GRCh37 |
41 | 75 | |
CHFR-DT | - | - | - | GRCh38 | - | 11 |
DDX51 | - | - | - |
GRCh38 GRCh38 GRCh37 |
75 | 113 |
EP400 | - | - |
GRCh38 GRCh37 |
333 | 397 | |
FBRSL1 | - | - |
GRCh38 GRCh37 |
156 | 189 | |
GALNT9 | - | - |
GRCh38 GRCh38 |
9 | 20 | |
GALNT9-AS1 | - | - | - |
GRCh38 GRCh38 |
- | 10 |
GOLGA3 | - | - |
GRCh38 GRCh37 |
124 | 157 |
There are 114 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 |
---|---|---|---|---|
Pathogenic (1) |
|
Aug 19, 2010 | RCV000134173.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024