ClinVar for Gene (Select 5165) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3210967	NM_005391.5(PDK3):c.680C>T (p.Ala227Val)	PDK3 (A227V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210966	NM_005391.5(PDK3):c.224C>T (p.Pro75Leu)	PDK3 (P75L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3041026	NM_005391.5(PDK3):c.249-11_249-9del	PDK3	Deletion (intron variant)	PDK3-related disorder	GLikely benign
Select item 3008782	NM_005391.5(PDK3):c.*7A>G	PDK3	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease X-linked dominant 6	GLikely benign
Select item 3007373	NM_005391.5(PDK3):c.1159G>A (p.Asp387Asn)	PDK3 (D387N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 3007146	NM_005391.5(PDK3):c.751-13C>A	PDK3	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GLikely benign
Select item 3006728	NM_005391.5(PDK3):c.138T>C (p.Tyr46=)	PDK3	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GLikely benign
Select item 3001452	NM_005391.5(PDK3):c.340A>G (p.Lys114Glu)	PDK3 (K114E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 2990133	NM_005391.5(PDK3):c.402G>A (p.Lys134=)	PDK3	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GLikely benign
Select item 2981192	NM_005391.5(PDK3):c.895C>T (p.Arg299Cys)	PDK3 (R299C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 2975212	NM_005391.5(PDK3):c.316G>A (p.Asp106Asn)	PDK3 (D106N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 2961002	NM_005391.5(PDK3):c.853-4G>A	PDK3	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GLikely benign
Select item 2957385	NM_005391.5(PDK3):c.1077+13A>T	PDK3	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GBenign
Select item 2916490	NM_005391.5(PDK3):c.852+18A>G	PDK3	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GLikely benign
Select item 2912022	NM_005391.5(PDK3):c.896G>A (p.Arg299His)	PDK3 (R299H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 2898827	NM_005391.5(PDK3):c.180A>G (p.Thr60=)	PDK3	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GLikely benign
Select item 2851654	NM_005391.5(PDK3):c.217_226del (p.Asn73fs)	PDK3 (N73fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 2849557	NM_005391.5(PDK3):c.355C>T (p.His119Tyr)	PDK3 (H119Y)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 2839369	NM_005391.5(PDK3):c.472C>G (p.Arg158Gly)	PDK3 (R158G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 2821823	NM_005391.5(PDK3):c.750+18A>G	PDK3	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GLikely benign
Select item 2820114	NM_005391.5(PDK3):c.*5C>T	PDK3	Single nucleotide variant (3 prime UTR variant +1 more)	Charcot-Marie-Tooth disease X-linked dominant 6	GLikely benign
Select item 2811177	NM_001142386.3(PDK3):c.1218A>G (p.Gln406=)	PDK3	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 2802404	NM_005391.5(PDK3):c.974G>T (p.Gly325Val)	PDK3 (G325V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 2777153	NM_005391.5(PDK3):c.321-11C>T	PDK3	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GLikely benign
Select item 2776518	NM_005391.5(PDK3):c.86T>A (p.Ile29Asn)	PDK3 (I29N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 2766779	NM_005391.5(PDK3):c.132_134del (p.Ser45del)	PDK3 (S45del)	Deletion (inframe_deletion)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 2760255	NM_005391.5(PDK3):c.1077+2T>G	PDK3	Single nucleotide variant (splice donor variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 2753425	NM_005391.5(PDK3):c.1032_1033del (p.Tyr345fs)	PDK3 (Y345fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GLikely benign
Select item 2730421	NM_005391.5(PDK3):c.302A>G (p.Asp101Gly)	PDK3 (D101G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 2729409	NM_005391.5(PDK3):c.681G>A (p.Ala227=)	PDK3	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GBenign
Select item 2727512	NM_005391.5(PDK3):c.567C>T (p.Pro189=)	PDK3	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GBenign
Select item 2726061	NM_005391.5(PDK3):c.1213A>G (p.Lys405Glu)	PDK3 (K405E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 2712845	NM_005391.5(PDK3):c.674-18T>C	PDK3	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GLikely benign
Select item 2705129	NM_005391.5(PDK3):c.23T>C (p.Leu8Pro)	PDK3 (L8P)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 2685738	GRCh37/hg19 Xp22.11-21.3(chrX:24405329-25163617)x2	ARX, PCYT1B +2 more	Copy number gain	not provided	GUncertain significance
Select item 2685727	GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2	ACE2, ACOT9 +120 more	Copy number gain	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2684973	GRCh37/hg19 Xp22.11(chrX:24492466-24756777)x3	PCYT1B, PDK3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2662601	NM_005391.5(PDK3):c.740A>C (p.Glu247Ala)	PDK3 (E247A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660192	NM_005391.5(PDK3):c.579G>A (p.Val193=)	PDK3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2637499	NM_005391.5(PDK3):c.963+16T>C	PDK3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2579271	GRCh38/hg38 Xp22.11-21.1(chrX:23730430-32849918)x3	ACOT9, APOO +113 more	Copy number gain	Polymicrogyria	GPathogenic
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2504985	NM_005391.5(PDK3):c.487A>G (p.Met163Val)	PDK3 (M163V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501167	NM_005391.5(PDK3):c.249-15T>C	PDK3	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease X-linked dominant 6 +1 more	GConflicting classifications of pathogenicity
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 2431045	NM_005391.5(PDK3):c.695T>C (p.Ile232Thr)	PDK3 (I232T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GPathogenic
Select item 2427281	NC_000023.10:g.(?_24512839)_(25033854_?)dup	ARX, PCYT1B +2 more	Duplication	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GUncertain significance
Select item 2427280	NC_000023.10:g.(?_24483573)_(25033854_?)del	ARX, PCYT1B +2 more	Deletion	Intellectual disability, X-linked, with or without seizures, arx-related +1 more	GPathogenic
Select item 2426316	NC_000023.10:g.(?_24512839)_(24767129_?)dup	PCYT1B, PDK3 +1 more	Duplication	not provided	GUncertain significance
Select item 2426315	NC_000023.10:g.(?_24483573)_(25033854_?)dup	ARX, PDK3 +2 more	Duplication	not provided	GUncertain significance
Select item 2423828	NC_000023.10:g.(?_24544295)_(24557281_?)dup	PDK3	Duplication	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 2423827	NC_000023.10:g.(?_24549754)_(24549907_?)del	PDK3	Deletion	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 2294424	NM_005391.5(PDK3):c.196C>G (p.Leu66Val)	PDK3 (L66V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2198468	NM_005391.5(PDK3):c.596A>G (p.Asp199Gly)	PDK3 (D199G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 2189509	NM_005391.5(PDK3):c.1032G>A (p.Leu344=)	PDK3	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GLikely benign
Select item 2178725	NM_005391.5(PDK3):c.1217del (p.Gln406fs)	PDK3 (D407fs +1 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 2171752	NM_005391.5(PDK3):c.434C>G (p.Thr145Ser)	PDK3 (T145S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 2148101	NM_005391.5(PDK3):c.780T>C (p.Tyr260=)	PDK3	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GLikely benign
Select item 2145302	NM_005391.5(PDK3):c.220C>T (p.Arg74Cys)	PDK3 (R74C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 2138494	NM_005391.5(PDK3):c.248+3A>G	PDK3	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 2119685	NM_005391.5(PDK3):c.149_158dup (p.Pro54fs)	PDK3 (P54fs)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 2107617	NM_005391.5(PDK3):c.392T>C (p.Ile131Thr)	PDK3 (I131T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 2097049	NM_005391.5(PDK3):c.321-3C>T	PDK3	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 2083752	NM_005391.5(PDK3):c.382C>G (p.Gln128Glu)	PDK3 (Q128E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 2081853	NM_005391.5(PDK3):c.1193A>G (p.Asp398Gly)	PDK3 (D398G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 2044681	NM_005391.5(PDK3):c.221G>A (p.Arg74His)	PDK3 (R74H)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 2036871	NM_005391.5(PDK3):c.106+18G>C	PDK3	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GLikely benign
Select item 2031632	NM_005391.5(PDK3):c.1045G>A (p.Gly349Arg)	PDK3 (G349R)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GBenign
Select item 2015603	NM_005391.5(PDK3):c.750+20C>T	PDK3	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GLikely benign
Select item 2008583	NM_005391.5(PDK3):c.1065C>G (p.Val355=)	PDK3	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GLikely benign
Select item 1979912	NM_005391.5(PDK3):c.42G>C (p.Lys14Asn)	PDK3 (K14N)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1963190	NM_005391.5(PDK3):c.106+11G>A	PDK3	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GLikely benign
Select item 1957529	NM_005391.5(PDK3):c.293G>A (p.Ser98Asn)	PDK3 (S98N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 1954676	NM_001142386.3(PDK3):c.1226T>C (p.Ile409Thr)	PDK3 (I409T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 1926413	NM_005391.5(PDK3):c.382C>A (p.Gln128Lys)	PDK3 (Q128K)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 1801877	NM_005391.5(PDK3):c.506-142C>T	PDK3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
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 1693269	NM_005391.5(PDK3):c.836A>G (p.Glu279Gly)	PDK3 (E279G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GUncertain significance
Select item 1661660	NM_005391.5(PDK3):c.1065C>T (p.Val355=)	PDK3	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GLikely benign
Select item 1620232	NM_005391.5(PDK3):c.596-4G>A	PDK3	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GLikely benign
Select item 1600516	NM_005391.5(PDK3):c.671A>G (p.Asn224Ser)	PDK3 (N224S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease X-linked dominant 6 +1 more	GConflicting classifications of pathogenicity
Select item 1599762	NM_005391.5(PDK3):c.107-7948A>C	PDK3	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GBenign
Select item 1597940	NM_005391.5(PDK3):c.132T>C (p.Thr44=)	PDK3	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GLikely benign
Select item 1588644	NM_005391.5(PDK3):c.609A>T (p.Thr203=)	PDK3	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GLikely benign
Select item 1581639	NM_005391.5(PDK3):c.963+14A>C	PDK3	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GLikely benign
Select item 1574146	NM_005391.5(PDK3):c.106+18G>A	PDK3	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GLikely benign
Select item 1569832	NM_005391.5(PDK3):c.765G>A (p.Ala255=)	PDK3	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GLikely benign
Select item 1566313	NM_005391.5(PDK3):c.595+12G>A	PDK3	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GLikely benign
Select item 1564937	NM_005391.5(PDK3):c.506-6G>A	PDK3	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GBenign
Select item 1562542	NM_005391.5(PDK3):c.595+20G>A	PDK3	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease X-linked dominant 6	GLikely benign

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