MMUT Chromosome 6

Methylmalonyl-CoA mutase

368 variants 368 Health Risk

Upload your DNA to see your personal genotypes for variants in MMUT.

What This Gene Does

This gene encodes the mitochondrial enzyme methylmalonyl Coenzyme A mutase. In humans, the product of this gene is a vitamin B12-dependent enzyme which catalyzes the isomerization of methylmalonyl-CoA to succinyl-CoA, while in other species this enzyme may have different functions. Mutations in this gene may lead to various types of methylmalonic aciduria. [provided by RefSeq, Jul 2008]

Associated Conditions (18)

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency

MMUT-related disorder

Methylmalonic acidemia

Peroxisome biogenesis disorder 8A (Zellweger)

Peroxisome biogenesis disorder 8B

Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

METHYLMALONIC ACIDURIA

mut(0) TYPE

mut(-) TYPE

Ovarian serous cystadenocarcinoma

Abnormality of metabolism/homeostasis

Likely inborn error of metabolism

Neonatal encephalopathy

See cases

Lung cancer

Methylmalonic aciduria

Familial cancer of breast

Key Variants

RS1085307929

Conflicting classifications of pathogenicity

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Health Risk

RS115923556

Conflicting classifications of pathogenicity

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, MMUT-related disorder

Health Risk

RS1184586094

Conflicting classifications of pathogenicity

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Health Risk

RS1369724342

Conflicting classifications of pathogenicity

Methylmalonic acidemia, Methylmalonic acidemia

Health Risk

RS137958217

Conflicting classifications of pathogenicity

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Health Risk

RS138374956

Conflicting classifications of pathogenicity

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, MMUT-related disorder

Health Risk

RS140727018

Conflicting classifications of pathogenicity

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Health Risk

RS145682249

Conflicting classifications of pathogenicity

Health Risk

RS1467385866

Conflicting classifications of pathogenicity

Health Risk

RS148091558

Conflicting classifications of pathogenicity

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, MMUT-related disorder

Health Risk

RS148331800

Conflicting classifications of pathogenicity

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Health Risk

RS150095448

Conflicting classifications of pathogenicity

Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency

Health Risk

All Variants (368)

RSID	Category	Clinical Significance	Conditions
RS121918254	Health Risk	Pathogenic	METHYLMALONIC ACIDURIA, mut(0) TYPE, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS121918255	Health Risk	Pathogenic	METHYLMALONIC ACIDURIA, mut(0) TYPE, METHYLMALONIC ACIDURIA
RS121918256	Health Risk	Pathogenic	METHYLMALONIC ACIDURIA, mut(0) TYPE, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1226722287	Health Risk	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1227030642	Health Risk	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS1238694184	Health Risk	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS1252295632	Health Risk	Pathogenic	Methylmalonic acidemia, Methylmalonic acidemia
RS1300547552	Health Risk	Pathogenic	—
RS1302409621	Health Risk	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1315464682	Health Risk	Pathogenic	—
RS1356455272	Health Risk	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1391177886	Health Risk	Pathogenic	—
RS1400022403	Health Risk	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1405705785	Health Risk	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS140600746	Health Risk	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1412463565	Health Risk	Pathogenic	METHYLMALONIC ACIDURIA, mut(0) TYPE, METHYLMALONIC ACIDURIA
RS1413324756	Health Risk	Pathogenic	—
RS1434645720	Health Risk	Pathogenic	—
RS1448907509	Health Risk	Pathogenic	—
RS1460509686	Health Risk	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS148285323	Health Risk	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1487802284	Health Risk	Pathogenic	—
RS1487859107	Health Risk	Pathogenic	—
RS1554157973	Health Risk	Pathogenic	—
RS1554158377	Health Risk	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1554158379	Health Risk	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1554158777	Health Risk	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1554159950	Health Risk	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, MMUT-related disorder, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1554160246	Health Risk	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1554160638	Health Risk	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS1554160743	Health Risk	Pathogenic	Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS1554160919	Health Risk	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1554161054	Health Risk	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1561952122	Health Risk	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1561957395	Health Risk	Pathogenic	—
RS1581815342	Health Risk	Pathogenic	—
RS1581819081	Health Risk	Pathogenic	METHYLMALONIC ACIDURIA, mut(0) TYPE, METHYLMALONIC ACIDURIA
RS1581834906	Health Risk	Pathogenic	—
RS1767095714	Health Risk	Pathogenic	—
RS1767096752	Health Risk	Pathogenic	Methylmalonic acidemia, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS1767239206	Health Risk	Pathogenic	—
RS1767285193	Health Risk	Pathogenic	Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS1767365298	Health Risk	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1767475786	Health Risk	Pathogenic	—
RS1767553642	Health Risk	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1767678885	Health Risk	Pathogenic	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1767680613	Health Risk	Pathogenic	—
RS1767735337	Health Risk	Pathogenic	—
RS1767738752	Health Risk	Pathogenic	Methylmalonic acidemia, Methylmalonic acidemia
RS1767739165	Health Risk	Pathogenic	—

« Prev 1 2 3 4 5 6 7 8 Next »