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 |
54 | 77 | |
ATP6V0A2 | - | - |
GRCh38 GRCh37 |
597 | 699 | |
BRI3BP | - | - |
GRCh38 GRCh37 |
15 | 39 | |
CCDC92 | - | - | - |
GRCh38 GRCh38 GRCh37 |
26 | 47 |
CDK2AP1 | - | - |
GRCh38 GRCh37 |
5 | 35 | |
DDX55 | - | - |
GRCh38 GRCh37 |
46 | 73 | |
DHX37 | - | - |
GRCh38 GRCh37 |
430 | 463 | |
DNAH10 | - | - |
GRCh38 GRCh38 GRCh37 |
387 | 491 | |
DNAH10OS | - | - | - |
GRCh38 GRCh38 |
- | 77 |
EIF2B1 | - | - |
GRCh38 GRCh37 |
221 | 311 |
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