Gene entry
MED12
mediator complex subunit 12
- Chromosome
- X
- Cytoband
- Xq13.1
- Variants (rsID)
- 22
MED12 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome X (region Xq13.1). Its official name is “mediator complex subunit 12”. The reference table lists 22 variants (rsID) for this gene.
Clinically classified variants
18 reference-table entries with clinical significance.
- rs138984044Benignsingle nucleotide variantFG syndrome 1|Cardiovascular phenotype
- rs377403264Benignsingle nucleotide variantCardiovascular phenotype|FG syndrome 1|X-linked intellectual disability with marfanoid habitus
- rs62609586Benignsingle nucleotide variantFG syndrome 1|X-linked intellectual disability with marfanoid habitus|Blepharophimosis - intellectual disability syndrome, MKB type
- rs187377817Conflicting interpretationssingle nucleotide variantFG syndrome 1
- rs192656109Conflicting interpretationssingle nucleotide variantFG syndrome 1|Intellectual disability
- rs202125318Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|FG syndrome 1
- rs369083173Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|FG syndrome 1
- rs376058351Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|History of neurodevelopmental disorder|FG syndrome 1
- rs80338758Pathogenicsingle nucleotide variantFG syndrome 1|6 conditions|Blepharophimosis - intellectual disability syndrome, MKB type|FG syndrome 1|X-linked intellectual disability with marfanoid habitus|Blepharophimosis - intellectual disability syndrome, MKB type|Intellectual disability|Inborn genetic diseases
- rs199469668Not classifiedsingle nucleotide variantUterine leiomyoma
- rs199469675Not classifiedsingle nucleotide variantUterine leiomyoma
- rs199469678Not classifiedDeletionUterine leiomyoma
- rs199469681Not classifiedDeletionUterine leiomyoma
- rs199469682Not classifiedDeletionUterine leiomyoma
- rs199469683Not classifiedDeletionUterine leiomyoma
- rs199469693Not classifiedDeletionUterine leiomyoma
- rs199469694Not classifiedDeletionUterine leiomyoma
- rs397515554Not classifiedsingle nucleotide variantFG syndrome 1
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.