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Links from Gene

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDK3
Duplication
Charcot-Marie-Tooth disease X-linked dominant 6
GLikely benign
PDK3
Deletion
Charcot-Marie-Tooth disease X-linked dominant 6
GUncertain significance
PDK3
(G174fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease X-linked dominant 6
GUncertain significance
PDK3
(P396L)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 6
GUncertain significance
LOC130068066, PDK3
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
PDK3, LOC130068066
Duplication
(5 prime UTR variant)
not provided
GBenign
PDK3
Duplication
(intron variant)
Charcot-Marie-Tooth disease X-linked dominant 6
GUncertain significance
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