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Links from MedGen

Items: 1 to 100 of 124

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TK2
(R116S +5 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GLikely pathogenic
TK2
(P137R +5 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC130059156, TK2
(L85S)
Single nucleotide variant
(missense variant +3 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
(S107R +5 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GPathogenic
TK2
(P134L +5 more)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial DNA depletion syndrome, myopathic form
GPathogenic
TK2
(Y109C +5 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
TK2
(Y117fs +5 more)
Deletion
(frameshift variant +1 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
+2 more
GPathogenic/Likely pathogenic
TK2
(Q110* +5 more)
Single nucleotide variant
(nonsense +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GPathogenic
TK2
(L123P +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely pathogenic
TK2
(K19fs +1 more)
Microsatellite
(frameshift variant +2 more)
Mitochondrial DNA depletion syndrome, myopathic form
+1 more
GPathogenic
TK2
Single nucleotide variant
(intron variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TK2
(D11A +1 more)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GLikely benign
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GLikely benign
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(synonymous variant +1 more)
TK2-related disorder
+2 more
GConflicting classifications of pathogenicity
TK2
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TK2
Single nucleotide variant
(synonymous variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TK2
(E158V +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GBenign
TK2
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
(I158V +5 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(synonymous variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(5 prime UTR variant +2 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
(G26S +2 more)
Single nucleotide variant
(missense variant +3 more)
Mitochondrial DNA depletion syndrome, myopathic form
GLikely pathogenic
TK2
(W122R +5 more)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial DNA depletion syndrome, myopathic form
GLikely pathogenic
TK2
(V113E +5 more)
Single nucleotide variant
(missense variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GLikely pathogenic
TK2
(R104C +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TK2
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome, myopathic form
+2 more
GBenign
TK2
(D166V +5 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GConflicting classifications of pathogenicity
TK2
(A3T +1 more)
Single nucleotide variant
(missense variant)
Mitochondrial DNA depletion syndrome, myopathic form
GLikely benign
TK2
Single nucleotide variant
(5 prime UTR variant +2 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
LOC130059156, TK2
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
+2 more
GUncertain significance
TK2
Single nucleotide variant
(synonymous variant +2 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GBenign
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GLikely benign
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GBenign
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GLikely benign
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GBenign
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GBenign
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GBenign
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GUncertain significance
TK2
Single nucleotide variant
(3 prime UTR variant +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
GBenign
TK2
(Q28* +5 more)
Indel
(nonsense +1 more)
Mitochondrial DNA depletion syndrome, myopathic form
+1 more
GPathogenic
TK2
Microsatellite
(splice donor variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TK2
(P227L +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
LOC130059156, TK2
(P41H)
Single nucleotide variant
(missense variant +3 more)
Mitochondrial DNA depletion syndrome, myopathic form
+2 more
GConflicting classifications of pathogenicity
LOC130059156, TK2
(R32W)
Single nucleotide variant
(missense variant +3 more)
Mitochondrial DNA depletion syndrome, myopathic form
+3 more
GBenign/Likely benign
TK2
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign/Likely benign
TK2
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
TK2
Single nucleotide variant
(5 prime UTR variant +2 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
+2 more
GBenign
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