PDK1[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 150849	GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1	AGPS, ATF2 +214 more	Copy number loss	See cases	GPathogenic
Select item 154600	GRCh38/hg38 2q31.1(chr2:172296909-172932166)x3	ITGA6, ITGA6-AS1 +22 more	Copy number gain	See cases	GUncertain significance
Select item 58766	GRCh38/hg38 2q31.1(chr2:172366752-176361187)x1	ATF2, ATP5MC3 +136 more	Copy number loss	See cases	GPathogenic
Select item 2402971	NM_002610.5(PDK1):c.44C>T (p.Pro15Leu)	LOC129935114, PDK1 +1 more (P15L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210958	NM_002610.5(PDK1):c.50C>A (p.Pro17Gln)	LOC129935114, PDK1 +1 more (P17Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3210960	NM_002610.5(PDK1):c.83T>G (p.Phe28Cys)	LOC129935114, PDK1 +1 more (F28C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3210953	NM_002610.5(PDK1):c.166C>T (p.Pro56Ser)	LOC129935114, PDK1 +1 more (P56S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2298884	NM_002610.5(PDK1):c.218A>C (p.Lys73Thr)	PDK1 (K73T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487476	NM_002610.5(PDK1):c.333A>C (p.Gln111His)	PDK1 (Q111H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210955	NM_002610.5(PDK1):c.392A>T (p.Asp131Val)	PDK1 (D131V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398108	NM_002610.5(PDK1):c.403A>C (p.Ile135Leu)	PDK1 (I135L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2497704	NM_002610.5(PDK1):c.406T>C (p.Tyr136His)	PDK1 (Y136H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 709365	NM_002610.5(PDK1):c.411C>A (p.Asp137Glu)	PDK1 (D137E)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2482347	NM_002610.5(PDK1):c.421A>C (p.Thr141Pro)	PDK1 (T141P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 758780	NM_002610.5(PDK1):c.426G>A (p.Val142=)	PDK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3210956	NM_002610.5(PDK1):c.467T>C (p.Met156Thr)	PDK1 (M156T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210957	NM_002610.5(PDK1):c.482T>C (p.Ile161Thr)	PDK1 (I161T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210959	NM_002610.5(PDK1):c.566T>C (p.Ile189Thr)	PDK1 (I189T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2570483	NM_002610.5(PDK1):c.587A>G (p.Asn196Ser)	PDK1 (N196S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1701793	NM_002610.5(PDK1):c.589C>G (p.Gln197Glu)	PDK1 (Q197E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 2460481	NM_002610.5(PDK1):c.616G>A (p.Gly206Ser)	PDK1 (G226S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307896	NM_002610.5(PDK1):c.656T>G (p.Ile219Arg)	PDK1 (I239R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525021	NM_002610.5(PDK1):c.745G>A (p.Glu249Lys)	PDK1 (E249K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338987	NM_002610.5(PDK1):c.751G>C (p.Glu251Gln)	PDK1 (E271Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495905	NM_002610.5(PDK1):c.821A>G (p.Tyr274Cys)	PDK1 (Y294C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286546	NM_002610.5(PDK1):c.898C>G (p.Pro300Ala)	PDK1 (P320A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599811	NM_002610.5(PDK1):c.917C>T (p.Thr306Met)	PDK1 (T306M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210961	NM_002610.5(PDK1):c.956G>A (p.Arg319Gln)	PDK1 (R339Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533480	NM_002610.5(PDK1):c.1027C>G (p.Arg343Gly)	PDK1 (R363G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305541	NM_002610.5(PDK1):c.1066G>T (p.Gly356Cys)	PDK1 (G356C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492571	NM_002610.5(PDK1):c.1138G>T (p.Gly380Cys)	PDK1 (G380C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531043	NM_002610.5(PDK1):c.1219G>T (p.Ala407Ser)	PDK1 (A427S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3247568	NC_000002.11:g.(?_173420879)_(174232392_?)del	CDCA7, MAP3K20 +2 more	Deletion	not provided	GPathogenic
Select item 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	GPathogenic
Select item 2424739	NC_000002.11:g.(?_171675102)_(174232392_?)dup	CDCA7, CYBRD1 +15 more	Duplication	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1695396	Single allele	AGPS, ATF2 +47 more	Deletion	Split hand-foot malformation 5	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1341079	GRCh37/hg19 2q31.1(chr2:173427759-173585237)x1	PDK1	Copy number loss	not provided	GUncertain significance
Select item 1339653	GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1	METTL8, PSMD14 +67 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 1047877	GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361)	PJVK, RBM45 +60 more	Copy number loss	3-4 finger osseus syndactyly +1 more	GPathogenic
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 562670	GRCh37/hg19 2q31.1(chr2:171667051-176832848)x3	ATF2, ATP5MC3 +27 more	Copy number gain	not provided	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic

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Items: 53