ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12q24.31(chr12:122646987-123057419)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
ABCB9 | - | - |
GRCh38 GRCh37 |
55 | 74 | |
ARL6IP4 | - | - |
GRCh38 GRCh37 |
38 | 57 | |
CCDC62 | - | - |
GRCh38 GRCh37 |
43 | 63 | |
DENR | - | - |
GRCh38 GRCh37 |
13 | 33 | |
HCAR1 | - | - |
GRCh38 GRCh37 |
32 | 52 | |
HCAR2 | - | - |
GRCh38 GRCh37 |
24 | 47 | |
HCAR3 | - | - |
GRCh38 GRCh37 |
22 | 45 | |
HIP1R | - | - |
GRCh38 GRCh37 |
82 | 105 | |
LOC112163533 | - | - | - | GRCh38 | - | 8 |
LOC121838567 | - | - | - | GRCh38 | - | 8 |
There are 30 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
|
Uncertain significance (1) |
|
Apr 30, 2011 | RCV000141434.3 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Oct 15, 2023