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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NBAS
(R137W)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
TRMU
(Y29*)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+2 more
GPathogenic/Likely pathogenic
TRMU
(F35fs)
Deletion
(5 prime UTR variant +2 more)
Aminoglycoside-induced deafness
+2 more
GConflicting classifications of pathogenicity
TRMU
(W39*)
Single nucleotide variant
(5 prime UTR variant +2 more)
Aminoglycoside-induced deafness
+2 more
GPathogenic
TRMU
(Y77H)
Single nucleotide variant
(5 prime UTR variant +2 more)
Aminoglycoside-induced deafness
+1 more
GPathogenic
TRMU
Single nucleotide variant
(splice acceptor variant +1 more)
Aminoglycoside-induced deafness
+2 more
GLikely pathogenic
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
(H112fs)
Duplication
(frameshift variant +2 more)
not provided
+2 more
GPathogenic/Likely pathogenic
TRMU
Deletion
(splice acceptor variant)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
+2 more
GLikely pathogenic
TRMU
(A166E +1 more)
Single nucleotide variant
(missense variant +1 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GUncertain significance
TRMU
Single nucleotide variant
(splice acceptor variant)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
+1 more
GLikely pathogenic
TRMU
(R113T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
TRMU
(R240* +2 more)
Single nucleotide variant
(nonsense +1 more)
Aminoglycoside-induced deafness
+1 more
GPathogenic
TRMU
(A128fs +2 more)
Deletion
(frameshift variant +1 more)
Aminoglycoside-induced deafness
+2 more
GPathogenic/Likely pathogenic
TRMU
(V279M +2 more)
Single nucleotide variant
(missense variant +1 more)
Aminoglycoside-induced deafness
+3 more
GPathogenic/Likely pathogenic
TRMU
(R154fs +2 more)
Deletion
(frameshift variant +1 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
+2 more
GPathogenic/Likely pathogenic
TRMU
(T155fs +2 more)
Deletion
(frameshift variant +1 more)
Aminoglycoside-induced deafness
+1 more
GLikely pathogenic
TRMU
(A179fs +2 more)
Duplication
(frameshift variant +1 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
+2 more
GConflicting classifications of pathogenicity
TRMU
Single nucleotide variant
(splice acceptor variant +1 more)
Aminoglycoside-induced deafness
+2 more
GLikely pathogenic
TRMU
Duplication
(inframe_insertion +2 more)
Aminoglycoside-induced deafness
+3 more
GConflicting classifications of pathogenicity
TRMU
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely pathogenic
TRMU
(G379C +4 more)
Single nucleotide variant
(missense variant +1 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
+3 more
GConflicting classifications of pathogenicity
TRMU
(G241E +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
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