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Items: 66

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRMU
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
TRMU
Single nucleotide variant
(5 prime UTR variant +2 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
+1 more
GBenign
TRMU
(L4V)
Single nucleotide variant
(5 prime UTR variant +2 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
+1 more
GBenign/Likely benign
TRMU
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GConflicting classifications of pathogenicity
TRMU
(A10S)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
+3 more
GBenign/Likely benign
TRMU
Single nucleotide variant
(synonymous variant +2 more)
not provided
GConflicting classifications of pathogenicity
TRMU
(R25K)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GUncertain significance
TRMU
(R25S)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
+2 more
GBenign
TRMU
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TRMU
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
TRMU
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GConflicting classifications of pathogenicity
TRMU
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GConflicting classifications of pathogenicity
TRMU
(L42M)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
TRMU
(T49I)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
TRMU
(Y58H)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
TRMU
(C61F)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
TRMU
(L64S)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
TRMU
(P67S)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
TRMU
(D80N +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
+2 more
GConflicting classifications of pathogenicity
TRMU
Deletion
(intron variant)
not provided
GConflicting classifications of pathogenicity
TRMU
(P97S)
Single nucleotide variant
(missense variant +2 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
+1 more
GUncertain significance
TRMU
(I99T)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TRMU
(H112fs)
Duplication
(intron variant +2 more)
not provided
+2 more
GPathogenic/Likely pathogenic
TRMU
Single nucleotide variant
(synonymous variant +2 more)
not provided
GConflicting classifications of pathogenicity
TRMU
(Q9R)
Single nucleotide variant
(synonymous variant +2 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
+3 more
GBenign/Likely benign
TRMU
(Q141R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TRMU
(T23M)
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TRMU
(R154Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TRMU
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TRMU
(F176C +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TRMU
(D183E +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TRMU
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
TRMU
Single nucleotide variant
(synonymous variant +1 more)
TRMU-related condition
+1 more
GConflicting classifications of pathogenicity
TRMU
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TRMU
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
TRMU
(M219V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TRMU
Single nucleotide variant
(intron variant)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
+1 more
GUncertain significance
TRMU
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TRMU
Deletion
(intron variant)
not provided
GConflicting classifications of pathogenicity
TRMU
(I247T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TRMU
(N250K +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TRMU
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
TRMU
(A268T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TRMU
(V285I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
TRMU
Duplication
(intron variant)
not provided
GUncertain significance
TRMU
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TRMU
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
TRMU
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
TRMU
(R306S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TRMU
(R309C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TRMU
(V310M +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
TRMU
(P318S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TRMU
(P318A +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TRMU
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TRMU
(R323Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TRMU
(R332Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TRMU
Duplication
(inframe_insertion +2 more)
not provided
+3 more
GConflicting classifications of pathogenicity
TRMU
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
TRMU
(D375N +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TRMU
(C377W +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
TRMU
(G379C +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
TRMU
(R385Q +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
TRMU
(G219R +1 more)
Single nucleotide variant
(synonymous variant +2 more)
not specified
+2 more
GBenign/Likely benign
TRMU
(A225T +1 more)
Single nucleotide variant
(synonymous variant +2 more)
not specified
+2 more
GBenign
TRMU
(E405A +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
TRMU
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
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