ClinVar Genomic variation as it relates to human health
GRCh38/hg38 12q24.32-24.33(chr12:128510404-129187569)x4
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 | |||
GLT1D1 | - | - | - |
GRCh38 GRCh37 |
18 | 50 |
LOC100128276 | - | - | - | GRCh38 | - | 12 |
LOC112163542 | - | - | - | GRCh38 | - | 12 |
LOC126861683 | - | - | - | GRCh38 | - | 13 |
LOC126861684 | - | - | - | GRCh38 | 1 | 13 |
LOC126861685 | - | - | - | GRCh38 | - | 17 |
LOC129390593 | - | - | - | GRCh38 | - | 12 |
LOC130009185 | - | - | - | GRCh38 | - | 13 |
LOC130009186 | - | - | - | GRCh38 | - | 13 |
LOC130009187 | - | - | - | GRCh38 | - | 12 |
There are 20 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 |
---|---|---|---|---|
Uncertain significance (1) |
|
Aug 20, 2012 | RCV000138935.5 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated May 08, 2024