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Links from MedGen

Items: 1 to 100 of 164

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TRMU
(L119F +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely pathogenic
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GPathogenic
TRMU
(F107L)
Single nucleotide variant
(missense variant +2 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GUncertain significance
NBAS
(R1786*)
Single nucleotide variant
(nonsense +1 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
+1 more
GPathogenic
TRMU
Single nucleotide variant
(splice acceptor variant)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
+1 more
GLikely pathogenic
NBAS
Deletion
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GLikely pathogenic
TRMU
(Q227* +2 more)
Single nucleotide variant
(nonsense +2 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GLikely pathogenic
NBAS
(W1850fs)
Deletion
(frameshift variant +1 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
+2 more
GPathogenic
TRMU
(A57S)
Single nucleotide variant
(missense variant +2 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GUncertain significance
TRMU
Microsatellite
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GUncertain significance
TRMU
(Q124fs +2 more)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
NBAS
(Q1372*)
Single nucleotide variant
(nonsense +1 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GLikely pathogenic
NBAS
Duplication
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GLikely pathogenic
NBAS
(F167fs)
Deletion
(frameshift variant +1 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
+1 more
GPathogenic
NBAS
Single nucleotide variant
(splice donor variant)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
+1 more
GLikely pathogenic
NBAS
(V1613fs)
Microsatellite
(frameshift variant +1 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
+1 more
GPathogenic/Likely pathogenic
TRMU
Single nucleotide variant
(splice acceptor variant)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GLikely pathogenic
NBAS
(L1507fs)
Deletion
(frameshift variant +1 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
+1 more
GPathogenic/Likely pathogenic
NBAS
Deletion
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GLikely pathogenic
LARS1
(W531* +3 more)
Single nucleotide variant
(nonsense)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GLikely pathogenic
LARS1
(Q167* +3 more)
Single nucleotide variant
(nonsense)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GLikely pathogenic
NBAS
(S1567fs)
Deletion
(frameshift variant +1 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GLikely pathogenic
NBAS
Single nucleotide variant
(splice acceptor variant)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GLikely pathogenic
NBAS
Deletion
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GLikely pathogenic
TRMU
(T155fs +2 more)
Deletion
(frameshift variant +1 more)
Aminoglycoside-induced deafness
+1 more
GLikely pathogenic
TRMU
Single nucleotide variant
(splice donor variant)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GLikely pathogenic
LOC129933155, NBAS
(M1L)
Single nucleotide variant
(missense variant +2 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
+1 more
GPathogenic/Likely pathogenic
TRMU
(L280fs +2 more)
Duplication
(frameshift variant +2 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GLikely pathogenic
NBAS
Deletion
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GLikely pathogenic
NBAS
Deletion
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GLikely pathogenic
TRMU
Single nucleotide variant
(5 prime UTR variant +2 more)
Aminoglycoside-induced deafness
+2 more
GLikely benign
TRMU
Deletion
(splice acceptor variant)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
+2 more
GLikely pathogenic
TRMU
(G241R +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
NBAS
(I512fs)
Deletion
(frameshift variant +1 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
+1 more
GPathogenic
NBAS
(Y1457*)
Indel
(nonsense +1 more)
not provided
+1 more
GPathogenic
TRMU
(Y29*)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+2 more
GPathogenic/Likely pathogenic
TRMU
Single nucleotide variant
(splice acceptor variant +1 more)
Aminoglycoside-induced deafness
+2 more
GLikely pathogenic
LARS1
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NBAS
(R405*)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic
NBAS
(C2303*)
Single nucleotide variant
(nonsense +1 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
+1 more
GConflicting classifications of pathogenicity
NBAS
(L2293fs)
Deletion
(frameshift variant +1 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
+1 more
GConflicting classifications of pathogenicity
TRMU
(G111R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TRMU
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
TRMU
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
TRMU
(A128fs +2 more)
Deletion
(frameshift variant +1 more)
Aminoglycoside-induced deafness
+2 more
GPathogenic/Likely pathogenic
TRMU
Single nucleotide variant
(splice acceptor variant +1 more)
Aminoglycoside-induced deafness
+2 more
GLikely pathogenic
TRMU
(T264I +2 more)
Single nucleotide variant
(missense variant +2 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GLikely benign
TRMU
(H236Q +4 more)
Single nucleotide variant
(missense variant +1 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GLikely benign
TRMU
(R208S +2 more)
Single nucleotide variant
(missense variant +1 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GUncertain significance
TRMU
(E136D +2 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
(intron variant)
not provided
GLikely benign
TRMU
(R113T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
TRMU
(P388L +2 more)
Single nucleotide variant
(missense variant +2 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GUncertain significance
TRMU
(G241E +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GConflicting classifications of pathogenicity
TRMU
Single nucleotide variant
(synonymous variant +2 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GUncertain significance
TRMU
(R59G)
Single nucleotide variant
(5 prime UTR variant +2 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GUncertain significance
TRMU
(R194C +2 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
(3 prime UTR variant +1 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GUncertain significance
TRMU
(Y187C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
TRMU
Single nucleotide variant
(3 prime UTR variant +1 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GUncertain significance
TRMU
Single nucleotide variant
(3 prime UTR variant +1 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GUncertain significance
TRMU
Single nucleotide variant
(intron variant)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
+1 more
GConflicting classifications of pathogenicity
TRMU
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TRMU
(W39*)
Single nucleotide variant
(5 prime UTR variant +2 more)
Aminoglycoside-induced deafness
+2 more
GPathogenic
TRMU
(S104I +2 more)
Single nucleotide variant
(missense variant +1 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GLikely pathogenic
TRMU
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TRMU
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TRMU
(R208* +1 more)
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
TRMU
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TRMU
(L164V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
TRMU
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TRMU
(F35fs)
Deletion
(5 prime UTR variant +2 more)
Aminoglycoside-induced deafness
+2 more
GConflicting classifications of pathogenicity
TRMU
(G272S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TRMU
(H112fs)
Duplication
(frameshift variant +2 more)
not provided
+2 more
GPathogenic/Likely pathogenic
TRMU
Single nucleotide variant
(intron variant)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
+1 more
GUncertain significance
TRMU
(P318S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
TRMU
Deletion
(intron variant)
not provided
GConflicting classifications of pathogenicity
TRMU
Single nucleotide variant
(synonymous variant +2 more)
not provided
GConflicting classifications of pathogenicity
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
(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
(G14S)
Single nucleotide variant
(5 prime UTR variant +2 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
+2 more
GUncertain significance
MMUT
(L736F)
Single nucleotide variant
(missense variant)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
+2 more
GConflicting classifications of pathogenicity
TRMU
Duplication
(inframe_insertion +2 more)
Aminoglycoside-induced deafness
+3 more
GConflicting classifications of pathogenicity
NBAS
(I984fs)
Deletion
(frameshift variant +1 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
+4 more
GPathogenic/Likely pathogenic
TRMU
Single nucleotide variant
(synonymous variant +1 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
+1 more
GConflicting classifications of pathogenicity
TRMU
(R294W +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
TRMU
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely pathogenic
TRMU
Single nucleotide variant
(intron variant)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
+2 more
GConflicting classifications of pathogenicity
TRMU
(I189M +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GBenign/Likely benign
TRMU
Single nucleotide variant
(3 prime UTR variant +1 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
+1 more
GBenign
TRMU
Microsatellite
(3 prime UTR variant +1 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GLikely benign
TRMU
Single nucleotide variant
(3 prime UTR variant +1 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
+1 more
GBenign/Likely benign
TRMU
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
TRMU
Single nucleotide variant
(3 prime UTR variant +1 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GUncertain significance
TRMU
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign/Likely benign
TRMU
Single nucleotide variant
(3 prime UTR variant +1 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GUncertain significance
TRMU
Single nucleotide variant
(3 prime UTR variant +1 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
GLikely benign
TRMU
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
TRMU
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TRMU
(P229A +1 more)
Single nucleotide variant
(synonymous variant +2 more)
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
+1 more
GConflicting classifications of pathogenicity
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