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Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TK2
Deletion
(inframe_indel +2 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
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
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome, myopathic form
+2 more
GBenign
TK2
Single nucleotide variant
(intron variant)
Mitochondrial DNA depletion syndrome, myopathic form
+4 more
GBenign/Likely benign
TK2
Single nucleotide variant
(5 prime UTR variant +2 more)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
+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
TK2
(T188A +5 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely pathogenic
TK2
(R183W +5 more)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial DNA depletion syndrome
+2 more
GPathogenic
TK2
(A139V +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GPathogenic/Likely pathogenic
TK2
(N58S +2 more)
Single nucleotide variant
(missense variant +3 more)
Mitochondrial DNA depletion syndrome, myopathic form
+2 more
GPathogenic/Likely pathogenic
TK2
(Q45* +1 more)
Single nucleotide variant
(nonsense +2 more)
Mitochondrial DNA depletion syndrome, myopathic form
+2 more
GPathogenic
TK2
(T108M +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic
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