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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TK2
(K202del +5 more)
Deletion
(inframe_deletion +2 more)
not provided
+2 more
GPathogenic/Likely pathogenic
TK2
(R192K +5 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GPathogenic
TK2
(R183W +5 more)
Single nucleotide variant
(missense variant +2 more)
Mitochondrial DNA depletion syndrome
+2 more
GPathogenic
TK2
(R130W +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
TK2
(T108M +5 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
LOC130059156, TK2
Indel
Mitochondrial DNA depletion syndrome, myopathic form
GPathogenic
TK2
Insertion
Mitochondrial DNA depletion syndrome, myopathic form
GPathogenic
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