Related gene-specific medical variations for Gene (Select 5165) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245591	NC_000023.10:g.(?_24512839)_(24557281_?)dup	PDK3	Duplication	Charcot-Marie-Tooth disease X-linked dominant 6	GLikely benign
Select item 3245580	NC_000023.10:g.(?_24537030)_(24537147_?)del	PDK3	Deletion	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 2434639	NM_005391.5(PDK3):c.521del (p.Gly174fs)	PDK3 (G174fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 1701679	NM_005391.5(PDK3):c.1187C>T (p.Pro396Leu)	PDK3 (P396L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 1293371	NM_005391.5(PDK3):c.-168T>G	LOC130068066, PDK3	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1292265	NM_005391.5(PDK3):c.-148_-140dup	PDK3, LOC130068066	Duplication (5 prime UTR variant)	not provided	GBenign
Select item 931226	NM_005391.5(PDK3):c.106+14_106+15dup	PDK3	Duplication (intron variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance

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