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Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PDK3
(K14N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 6
+1 more
GConflicting classifications of pathogenicity
PDK3
(L66V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDK3
(P75L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDK3
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease X-linked dominant 6
+1 more
GBenign/Likely benign
PDK3
(S98N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 6
+1 more
GUncertain significance
PDK3
(P102S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 6
+2 more
GConflicting classifications of pathogenicity
PDK3
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
PDK3
(M126V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease
+3 more
GConflicting classifications of pathogenicity
PDK3
(R158H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
PDK3
(N224S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
PDK3
(A227V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PDK3
(P231R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease X-linked dominant 6
+1 more
GUncertain significance
PDK3
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease X-linked dominant 6
+1 more
GLikely benign
PDK3
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
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