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Links from MedGen

Items: 1 to 100 of 372

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMUT
(T387I)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GPathogenic
MMUT
Deletion
(nonsense)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(T387K)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(V645fs)
Deletion
(frameshift variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GPathogenic
MMUT
(I601fs)
Deletion
(frameshift variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(R727Q)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GUncertain significance
MMUT
(S135L)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GUncertain significance
MMUT
(R144C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MMUT
(A541V)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GUncertain significance
MMUT
(N388H)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+1 more
GPathogenic/Likely pathogenic
MMUT
(V510fs)
Deletion
(frameshift variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(E531fs)
Deletion
(frameshift variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(K255*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(K171*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(E575fs)
Deletion
(frameshift variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(R326fs)
Deletion
(frameshift variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(D391fs)
Indel
(frameshift variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(N490fs)
Deletion
(frameshift variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(Y364*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(P615T)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+1 more
GPathogenic
MMUT
Single nucleotide variant
(intron variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+1 more
GLikely benign
MMUT
Single nucleotide variant
(intron variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+1 more
GLikely benign
MMUT
Single nucleotide variant
(intron variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+1 more
GBenign/Likely benign
MMUT
Single nucleotide variant
(intron variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+1 more
GBenign/Likely benign
MMUT
Single nucleotide variant
(intron variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+1 more
GLikely benign
MMUT
Single nucleotide variant
(intron variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+1 more
GLikely benign
MMUT
(A536V)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+1 more
GUncertain significance
MMUT
(M182R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
MMUT
(V657A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MMUT
(R610C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MMUT
(K251*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
MMUT
(N120S)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+1 more
GUncertain significance
MMUT
(A472V)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+1 more
GUncertain significance
MMUT
(T387P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
MMUT
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+1 more
GUncertain significance
MMUT
(R557Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
MMUT
(R474P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MMUT
(L281fs)
Duplication
(frameshift variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+1 more
GPathogenic/Likely pathogenic
MMUT
(F199V)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GUncertain significance
MMUT
(D738G)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GUncertain significance
MMUT
Single nucleotide variant
(splice acceptor variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(E414*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GPathogenic
MMUT
(V666M)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(I245V)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GUncertain significance
MMUT
(N365S)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GUncertain significance
MMUT
(T636A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MMUT
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MMUT
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MMUT
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
MMUT
Single nucleotide variant
(synonymous variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+1 more
GLikely benign
MMUT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
MMUT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
MMUT
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
MMUT
(P194L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
MMUT
(L10fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
MMUT
(P695L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MMUT
(M79V)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GUncertain significance
MMUT
(I479V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MMUT
(Y146*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GPathogenic
MMUT
(R76K)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+1 more
GUncertain significance
MMUT
(K54R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MMUT
(D696A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MMUT
(S262I)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(E415*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GPathogenic
MMUT
(G133*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+1 more
GPathogenic/Likely pathogenic
MMUT
(L134*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(E236*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(G263*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(L281*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(G312*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+1 more
GPathogenic/Likely pathogenic
MMUT
(W329*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+1 more
GPathogenic/Likely pathogenic
MMUT
(L332*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(K400*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(Y429*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(E450*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(K457*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(K522*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(Y587*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(Q624*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(A271fs)
Indel
(frameshift variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GPathogenic
MMUT
Single nucleotide variant
(splice acceptor variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GPathogenic
MMUT
(E596fs)
Deletion
(frameshift variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(C560R)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(A558V)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(L549fs)
Deletion
(frameshift variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(A528fs)
Duplication
(frameshift variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
Single nucleotide variant
(splice donor variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(K444*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(I412del)
Microsatellite
(inframe_deletion)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+1 more
GLikely pathogenic
MMUT
(T370fs)
Duplication
(frameshift variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(V368fs)
Deletion
(frameshift variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(I298N)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(Q218E)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(D149fs)
Duplication
(frameshift variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(A141E)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
MMUT
(R3*)
Single nucleotide variant
(nonsense)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
Single nucleotide variant
(splice acceptor variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GLikely pathogenic
MMUT
(T63I)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
GUncertain significance
MMUT
(N407fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
PEX16
(L237R)
Single nucleotide variant
(missense variant)
Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
+1 more
GUncertain significance
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