ClinVar Genomic variation as it relates to human health
GRCh37/hg19 12q24.32-24.33(chr12:129014884-129818338)x3
Germline
Classification
(1)
Uncertain significance
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 | |||
GLT1D1 | - | - | - |
GRCh38 GRCh37 |
18 | 50 |
SLC15A4 | - | - |
GRCh38 GRCh37 |
26 | 53 | |
TMEM132C | - | - | - |
GRCh38 GRCh37 |
106 | 133 |
TMEM132D | - | - |
GRCh38 GRCh37 |
106 | 146 |
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Uncertain significance (1) |
|
Feb 22, 2018 | RCV001007430.1 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Apr 25, 2022