ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12q24.31(chr12:120504068-122459718)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 | |||
ACADS | - | - |
GRCh38 GRCh37 |
436 | 453 | |
ANAPC5 | - | - |
GRCh38 GRCh37 |
21 | 41 | |
B3GNT4 | - | - |
GRCh38 GRCh37 |
27 | 81 | |
BCL7A | - | - |
GRCh38 GRCh38 GRCh37 |
8 | 33 | |
C12orf43 | - | - | - |
GRCh38 GRCh37 |
4 | 89 |
CABP1 | - | - |
GRCh38 GRCh37 |
6 | 22 | |
CABP1-DT | - | - | - | GRCh38 | - | 6 |
CAMKK2 | - | - |
GRCh38 GRCh37 |
37 | 55 | |
CFAP251 | - | - |
GRCh38 GRCh37 |
105 | 132 | |
CLIP1 | - | - |
GRCh38 GRCh37 |
116 | 144 |
There are 167 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 | RCV000051342.4 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023