PDK1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	ABCB11, ACVR1 +530 more	Copy number gain	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	KLHL23, KLHL41 +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)	Inborn genetic diseases	GUncertain significance
Select item 2298884	NM_002610.5(PDK1):c.218A>C (p.Lys73Thr)	PDK1 (K73T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487476	NM_002610.5(PDK1):c.333A>C (p.Gln111His)	PDK1 (Q111H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398108	NM_002610.5(PDK1):c.403A>C (p.Ile135Leu)	PDK1 (I135L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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 2570483	NM_002610.5(PDK1):c.587A>G (p.Asn196Ser)	PDK1 (N196S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
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	ABCB11, B3GALT1 +67 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 1047877	GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361)	CYBRD1, DCAF17 +60 more	Copy number loss	3-4 finger 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)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 43