Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Gene entry

MVK

mevalonate kinase

Chromosome
12
Cytoband
12q24.11
Variants (rsID)
24

MVK is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 12 (region 12q24.11). Its official name is “mevalonate kinase”. The reference table lists 24 variants (rsID) for this gene.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Clinically classified variants

18 reference-table entries with clinical significance.

  • rs115802744Benignsingle nucleotide variantMethylmalonic aciduria, cblB type|Hyperimmunoglobulin D with periodic fever|Mevalonic aciduria
  • rs140397628Benignsingle nucleotide variantMevalonic aciduria|Hyperimmunoglobulin D with periodic fever|Mevalonic aciduria|Hyperimmunoglobulin D with periodic fever|Porokeratosis 3, disseminated superficial actinic type|Autoinflammatory syndrome
  • rs192335177Benignsingle nucleotide variantMevalonic aciduria|Hyperimmunoglobulin D with periodic fever
  • rs138342076Conflicting interpretationssingle nucleotide variantMevalonic aciduria|Porokeratosis 3, disseminated superficial actinic type|Hyperimmunoglobulin D with periodic fever|Mevalonic aciduria|Hyperimmunoglobulin D with periodic fever|Autoinflammatory syndrome
  • rs28934897Conflicting interpretationssingle nucleotide variantHyperimmunoglobulin D with periodic fever|Hyperimmunoglobulin D with periodic fever|Mevalonic aciduria|Porokeratosis 3, disseminated superficial actinic type|Hyperimmunoglobulin D with periodic fever|Mevalonic aciduria|MVK-Related Disorders|Porokeratosis 3, disseminated superficial actinic type|See cases|Autoinflammatory syndrome
  • rs72648042Conflicting interpretationssingle nucleotide variantMevalonic aciduria|Porokeratosis 3, disseminated superficial actinic type|Hyperimmunoglobulin D with periodic fever|Mevalonic aciduria|Hyperimmunoglobulin D with periodic fever|Autoinflammatory syndrome
  • rs76914224Conflicting interpretationssingle nucleotide variantHyperimmunoglobulin D with periodic fever|Mevalonic aciduria|Hyperimmunoglobulin D with periodic fever|Porokeratosis 3, disseminated superficial actinic type|Mevalonic aciduria|Autoinflammatory syndrome
  • rs104895300Likely pathogenicsingle nucleotide variantHyperimmunoglobulin D with periodic fever
  • rs104895298Pathogenicsingle nucleotide variantHyperimmunoglobulin D with periodic fever|Mevalonic aciduria|Porokeratosis 3, disseminated superficial actinic type|Hyperimmunoglobulin D with periodic fever
  • rs104895304Pathogenicsingle nucleotide variantHyperimmunoglobulin D with periodic fever|Mevalonic aciduria|Hyperimmunoglobulin D with periodic fever|Mevalonic aciduria|Porokeratosis 3, disseminated superficial actinic type|Hyperimmunoglobulin D with periodic fever|Mevalonic aciduria|MVK-Related Disorders|Autoinflammatory syndrome
  • rs104895311Pathogenicsingle nucleotide variantHyperimmunoglobulin D with periodic fever|Mevalonic aciduria|Hyperimmunoglobulin D with periodic fever|Porokeratosis 3, disseminated superficial actinic type|Autoinflammatory syndrome
  • rs104895319Pathogenicsingle nucleotide variantMevalonic aciduria|Hyperimmunoglobulin D with periodic fever|Hyperimmunoglobulin D with periodic fever|Porokeratosis 3, disseminated superficial actinic type|Mevalonic aciduria|Autoinflammatory syndrome
  • rs104895332Pathogenicsingle nucleotide variantHyperimmunoglobulin D with periodic fever|Hyperimmunoglobulin D with periodic fever|Mevalonic aciduria|Porokeratosis 3, disseminated superficial actinic type
  • rs104895360Pathogenicsingle nucleotide variantHyperimmunoglobulin D with periodic fever|Porokeratosis 3, disseminated superficial actinic type|Hyperimmunoglobulin D with periodic fever|Mevalonic aciduria
  • rs104895366Pathogenicsingle nucleotide variantHyperimmunoglobulin D with periodic fever|Mevalonic aciduria|Hyperimmunoglobulin D with periodic fever|Porokeratosis 3, disseminated superficial actinic type|See cases
  • rs104895382Pathogenicsingle nucleotide variantHyperimmunoglobulin D with periodic fever|Mevalonic aciduria|Porokeratosis 3, disseminated superficial actinic type|Hyperimmunoglobulin D with periodic fever|See cases
  • rs121917789Pathogenicsingle nucleotide variantMevalonic aciduria
  • rs104895356Uncertain significancesingle nucleotide variantHyperimmunoglobulin D with periodic fever|Porokeratosis 3, disseminated superficial actinic type|Mevalonic aciduria|Hyperimmunoglobulin D with periodic fever

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.