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Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMUT
(R727*)
Single nucleotide variant
(nonsense)
Methylmalonic acidemia
+3 more
GPathogenic
MMUT
(G717V)
Single nucleotide variant
(missense variant)
Methylmalonic acidemia
+2 more
GPathogenic
MMUT
(I671V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
MMUT
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
MMUT
(L618del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
MMUT
(F573S)
Single nucleotide variant
(missense variant)
not provided
GPathogenic/Likely pathogenic
MMUT
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
MMUT
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MMUT
(C533*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
MMUT
(R532H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
MMUT
(A499T)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
MMUT
Single nucleotide variant
(splice acceptor variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+1 more
GPathogenic/Likely pathogenic
MMUT
(G454R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMUT
(G427D)
Single nucleotide variant
(missense variant)
Methylmalonic acidemia
+2 more
GPathogenic
MMUT
(R403*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
MMUT
(M375I)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+2 more
GConflicting classifications of pathogenicity
MMUT
(I372T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MMUT
(T370P)
Single nucleotide variant
(missense variant)
not provided
GPathogenic/Likely pathogenic
MMUT
Single nucleotide variant
(intron variant)
not provided
+2 more
GPathogenic/Likely pathogenic
MMUT
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MMUT
(K251N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MMUT
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
MMUT
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
MMUT
(R154H)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
MMUT
(R144H)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+1 more
GUncertain significance
MMUT
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MMUT
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
MMUT
(G94R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
MMUT
(R93H)
Single nucleotide variant
(missense variant)
Methylmalonic acidemia
+2 more
GPathogenic
MMUT
(I69V)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+2 more
GConflicting classifications of pathogenicity
MMUT
(R31*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
MMUT
(V19fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
MMUT
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
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