ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12q24.31-24.33(chr12:123509825-133191400)x3
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 | |
AACS | - | - |
GRCh38 GRCh37 |
54 | 77 | |
ADGRD1 | - | - |
GRCh38 GRCh37 |
41 | 64 | |
ADGRD1-AS1 | - | - | - | GRCh38 | - | 12 |
ANKLE2 | - | - |
GRCh38 GRCh37 |
238 | 271 | |
ATP6V0A2 | - | - |
GRCh38 GRCh37 |
597 | 699 | |
BRI3BP | - | - |
GRCh38 GRCh37 |
15 | 39 | |
CCDC92 | - | - | - |
GRCh38 GRCh38 GRCh37 |
26 | 47 |
CHFR | - | - |
GRCh38 GRCh37 |
41 | 75 | |
CHFR-DT | - | - | - | GRCh38 | - | 11 |
There are 400 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) |
|
Dec 22, 2010 | RCV000135535.9 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024