ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12q24.31-24.33(chr12:122985202-130714574)x1
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 | |||
AACS | - | - |
GRCh38 GRCh37 |
57 | 80 | |
ATP6V0A2 | - | - |
GRCh38 GRCh37 |
602 | 707 | |
BRI3BP | - | - |
GRCh38 GRCh37 |
16 | 41 | |
CCDC92 | - | - | - |
GRCh38 GRCh38 GRCh37 |
28 | 49 |
CDK2AP1 | - | - |
GRCh38 GRCh37 |
6 | 37 | |
DDX55 | - | - |
GRCh38 GRCh37 |
49 | 77 | |
DHX37 | - | - |
GRCh38 GRCh37 |
433 | 467 | |
DNAH10 | - | - |
GRCh38 GRCh38 GRCh37 |
424 | 532 | |
DNAH10OS | - | - | - |
GRCh38 GRCh38 |
- | 81 |
EIF2B1 | - | - |
GRCh38 GRCh37 |
231 | 322 |
There are 284 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh38 , GRCh37 , NCBI36).
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
See cases
|
Pathogenic (1) |
|
Aug 12, 2011 | RCV000051345.7 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023