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Links from MedGen

Items: 1 to 100 of 225

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMUT
Deletion
Methylmalonic acidemia
GPathogenic
MMUT
(L358P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
MMUT
(H678R)
Single nucleotide variant
(missense variant)
Methylmalonic acidemia
GLikely pathogenic
MMUT
(E360*)
Single nucleotide variant
(nonsense)
Methylmalonic acidemia
GLikely pathogenic
MMUT
(M182fs)
Duplication
(frameshift variant)
Methylmalonic acidemia
GPathogenic
MMUT
(S288P)
Single nucleotide variant
(missense variant)
Methylmalonic acidemia
+1 more
GPathogenic/Likely pathogenic
MMUT
(M700fs)
Deletion
(frameshift variant)
Methylmalonic acidemia
GPathogenic
MMUT
(R616H)
Single nucleotide variant
(missense variant)
Methylmalonic acidemia
+1 more
GConflicting classifications of pathogenicity
MMAB
(D123fs)
Deletion
(frameshift variant +1 more)
Methylmalonic aciduria, cblB type
+1 more
GPathogenic
MMUT
(E432A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
MMAA
(R145Q)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria, cblA type
+1 more
GPathogenic/Likely pathogenic
MMUT
(V553fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
MMUT
(G426R)
Single nucleotide variant
(missense variant)
Methylmalonic acidemia
+1 more
GPathogenic/Likely pathogenic
ACSF3
Single nucleotide variant
(3 prime UTR variant +1 more)
ACSF3-related disorder
GLikely benign
ACSF3
Single nucleotide variant
(3 prime UTR variant +1 more)
ACSF3-related disorder
GLikely benign
ACSF3
(A303V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
ACSF3
(R293P +1 more)
Single nucleotide variant
(missense variant +1 more)
Combined malonic and methylmalonic acidemia
GConflicting classifications of pathogenicity
ACSF3
(S283L +1 more)
Single nucleotide variant
(missense variant +1 more)
Combined malonic and methylmalonic acidemia
GUncertain significance
ACSF3
Single nucleotide variant
(synonymous variant +1 more)
Combined malonic and methylmalonic acidemia
GLikely benign
ACSF3
Insertion
(intron variant)
Methylmalonic acidemia
GUncertain significance
ACSF3
Single nucleotide variant
(intron variant)
Methylmalonic acidemia
GUncertain significance
ACSF3
Single nucleotide variant
(intron variant)
Methylmalonic acidemia
GUncertain significance
ACSF3
Deletion
(intron variant)
Methylmalonic acidemia
GUncertain significance
ACSF3
Single nucleotide variant
(intron variant)
Combined malonic and methylmalonic acidemia
GUncertain significance
ACSF3
(E259G +1 more)
Single nucleotide variant
(missense variant +1 more)
Methylmalonic acidemia
GUncertain significance
ACSF3
(V194M +1 more)
Single nucleotide variant
(missense variant +1 more)
Combined malonic and methylmalonic acidemia
GUncertain significance
ACSF3
Single nucleotide variant
(intron variant)
Combined malonic and methylmalonic acidemia
GLikely benign
ACSF3
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
ACSF3
(S180N +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ACSF3
Single nucleotide variant
(synonymous variant +1 more)
Combined malonic and methylmalonic acidemia
GLikely benign
ACSF3
(K148M +1 more)
Single nucleotide variant
(missense variant +1 more)
Methylmalonic acidemia
GUncertain significance
ACSF3
Single nucleotide variant
(intron variant)
Combined malonic and methylmalonic acidemia
GLikely benign
ACSF3, LOC125177393
(V107M +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
ACSF3, LOC125177393
(G101R +1 more)
Single nucleotide variant
(missense variant +1 more)
Combined malonic and methylmalonic acidemia
+1 more
GUncertain significance
ACSF3, LOC125177393
Single nucleotide variant
(synonymous variant +1 more)
Methylmalonic acidemia
GUncertain significance
ACSF3, LOC125177393
(G348D +1 more)
Single nucleotide variant
(missense variant +1 more)
Methylmalonic acidemia
GUncertain significance
ACSF3, LOC125177393
(P338L +1 more)
Single nucleotide variant
(missense variant +1 more)
Combined malonic and methylmalonic acidemia
GUncertain significance
ACSF3
(R318H +1 more)
Single nucleotide variant
(missense variant +1 more)
Combined malonic and methylmalonic acidemia
GUncertain significance
ACSF3
(D315N +1 more)
Single nucleotide variant
(missense variant +1 more)
Combined malonic and methylmalonic acidemia
GUncertain significance
ACSF3
(V28M +1 more)
Single nucleotide variant
(missense variant +1 more)
Methylmalonic acidemia
GUncertain significance
ACSF3
(R21Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Methylmalonic acidemia
GUncertain significance
ACSF3
Single nucleotide variant
(synonymous variant +1 more)
Methylmalonic acidemia
GUncertain significance
ACSF3
(V241M)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GUncertain significance
ACSF3
(K234I)
Single nucleotide variant
(missense variant +2 more)
Methylmalonic acidemia
GUncertain significance
ACSF3
Single nucleotide variant
(synonymous variant +2 more)
Combined malonic and methylmalonic acidemia
GLikely benign
ACSF3
Single nucleotide variant
(synonymous variant +2 more)
Combined malonic and methylmalonic acidemia
GLikely benign
ACSF3
(P186L)
Single nucleotide variant
(missense variant +2 more)
Combined malonic and methylmalonic acidemia
GUncertain significance
ACSF3
(T176N)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
ACSF3
(I174M)
Single nucleotide variant
(missense variant +2 more)
Methylmalonic acidemia
GUncertain significance
ACSF3
Single nucleotide variant
(synonymous variant +2 more)
Combined malonic and methylmalonic acidemia
GLikely benign
ACSF3
(P166L)
Single nucleotide variant
(missense variant +2 more)
Combined malonic and methylmalonic acidemia
GUncertain significance
ACSF3
(V146I)
Single nucleotide variant
(missense variant +2 more)
Methylmalonic acidemia
GUncertain significance
ACSF3
(G119D)
Single nucleotide variant
(missense variant +2 more)
Combined malonic and methylmalonic acidemia
GUncertain significance
ACSF3
(E95Q)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
ACSF3
(R94W)
Single nucleotide variant
(missense variant +2 more)
Combined malonic and methylmalonic acidemia
GUncertain significance
ACSF3
(L93H)
Single nucleotide variant
(missense variant +2 more)
Methylmalonic acidemia
GUncertain significance
ACSF3
(R65H)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
ACSF3
(G64S)
Single nucleotide variant
(missense variant +2 more)
Methylmalonic acidemia
GUncertain significance
ACSF3
(V60G)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
ACSF3
(R49C)
Single nucleotide variant
(missense variant +2 more)
Combined malonic and methylmalonic acidemia
+1 more
GUncertain significance
ACSF3
Single nucleotide variant
(synonymous variant +2 more)
Combined malonic and methylmalonic acidemia
GLikely benign
ACSF3
(P45L)
Single nucleotide variant
(missense variant +2 more)
Methylmalonic acidemia
GUncertain significance
ACSF3
(A44T)
Single nucleotide variant
(missense variant +2 more)
Combined malonic and methylmalonic acidemia
GUncertain significance
ACSF3
(D41E)
Single nucleotide variant
(missense variant +2 more)
Methylmalonic acidemia
GUncertain significance
ACSF3
(R39H)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GUncertain significance
ACSF3
(A15T)
Single nucleotide variant
(missense variant +2 more)
Combined malonic and methylmalonic acidemia
+1 more
GConflicting classifications of pathogenicity
ACSF3
Single nucleotide variant
(synonymous variant +2 more)
Combined malonic and methylmalonic acidemia
GLikely benign
ACSF3
Single nucleotide variant
(5 prime UTR variant +2 more)
Combined malonic and methylmalonic acidemia
GUncertain significance
ACSF3
Single nucleotide variant
(5 prime UTR variant +2 more)
Methylmalonic acidemia
GUncertain significance
MMUT
(A141E)
Single nucleotide variant
(missense variant)
Methylmalonic acidemia
+1 more
GLikely pathogenic
MMUT
(A141fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
ACSF3
(Q142*)
Single nucleotide variant
(nonsense +2 more)
Combined malonic and methylmalonic acidemia
GPathogenic
ACSF3
Single nucleotide variant
(synonymous variant +2 more)
Combined malonic and methylmalonic acidemia
GLikely benign
ACSF3
Single nucleotide variant
(synonymous variant +2 more)
Combined malonic and methylmalonic acidemia
+1 more
GLikely benign
ACSF3
Single nucleotide variant
(synonymous variant +1 more)
Combined malonic and methylmalonic acidemia
GLikely benign
MMAA
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria, cblA type
GLikely benign
ACSF3
Single nucleotide variant
(synonymous variant +2 more)
Combined malonic and methylmalonic acidemia
GLikely benign
ACSF3
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GLikely benign
ACSF3
(D105N)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+1 more
GUncertain significance
MMUT
(G94V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
MMUT
Single nucleotide variant
(splice donor variant)
Methylmalonic acidemia
+2 more
GPathogenic/Likely pathogenic
MMUT
(V399fs)
Microsatellite
(frameshift variant)
not provided
+2 more
GPathogenic
MMUT
(A676T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MMUT
Single nucleotide variant
(splice acceptor variant)
Methylmalonic acidemia
+2 more
GPathogenic/Likely pathogenic
MMUT
(P649fs)
Deletion
(frameshift variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+2 more
GPathogenic/Likely pathogenic
MMUT
(R511*)
Single nucleotide variant
(nonsense)
Methylmalonic acidemia
+2 more
GPathogenic
MMUT
(R474*)
Single nucleotide variant
(nonsense)
Methylmalonic acidemia
+2 more
GPathogenic
MMUT
(R581*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+2 more
GPathogenic
MMUT
(V227fs)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic
MMUT
(Y429*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+2 more
GPathogenic
MMUT
(N341fs)
Duplication
(frameshift variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+2 more
GPathogenic
MMUT
(G284*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+2 more
GPathogenic
MMUT
(E224*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
MMAB
(R186Q)
Single nucleotide variant
(missense variant +1 more)
Methylmalonic acidemia
+1 more
GConflicting classifications of pathogenicity
MMUT
(D244fs)
Insertion
(frameshift variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+2 more
GPathogenic
MMUT
(R616C)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+2 more
GPathogenic/Likely pathogenic
MMUT
(L494*)
Single nucleotide variant
(nonsense)
Methylmalonic acidemia
+2 more
GPathogenic
MMAB
(E152*)
Single nucleotide variant
(nonsense +1 more)
Methylmalonic acidemia
+1 more
GPathogenic/Likely pathogenic
MMAA
(P151fs)
Duplication
(frameshift variant)
Methylmalonic acidemia
+2 more
GPathogenic
MMAA
(N137fs)
Deletion
(frameshift variant)
Methylmalonic acidemia
+1 more
GPathogenic/Likely pathogenic
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