PDK4[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 153321	GRCh38/hg38 7q21.2-21.3(chr7:92759144-97568646)x1	LOC110121296, LOC111365161 +110 more	Copy number loss	See cases	GPathogenic
Select item 146112	GRCh38/hg38 7q21.3(chr7:95127070-97873487)x1	ASB4, ASNS +61 more	Copy number loss	See cases	GPathogenic
Select item 2301417	NM_002612.4(PDK4):c.1212C>A (p.Asn404Lys)	PDK4 (N404K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210968	NM_002612.4(PDK4):c.1129G>A (p.Val377Ile)	PDK4 (V377I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210977	NM_002612.4(PDK4):c.970A>C (p.Asn324His)	PDK4 (N324H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559020	NM_002612.4(PDK4):c.968G>A (p.Arg323Gln)	PDK4 (R323Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548271	NM_002612.4(PDK4):c.899T>C (p.Leu300Pro)	PDK4 (L300P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732549	NM_002612.4(PDK4):c.870+10C>G	PDK4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2333813	NM_002612.4(PDK4):c.859C>A (p.Leu287Ile)	PDK4 (L287I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210976	NM_002612.4(PDK4):c.852A>C (p.Lys284Asn)	PDK4 (K284N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276627	NM_002612.4(PDK4):c.688G>A (p.Val230Met)	PDK4 (V230M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282753	NM_002612.4(PDK4):c.632C>T (p.Ser211Leu)	PDK4 (S211L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210972	NM_002612.4(PDK4):c.532C>A (p.Leu178Ile)	PDK4 (L178I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484497	NM_002612.4(PDK4):c.522C>A (p.Asn174Lys)	PDK4 (N174K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210971	NM_002612.4(PDK4):c.408A>T (p.Gln136His)	PDK4 (Q136H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715405	NM_002612.4(PDK4):c.400A>G (p.Met134Val)	PDK4 (M134V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3210970	NM_002612.4(PDK4):c.363C>G (p.Ile121Met)	PDK4 (I121M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368422	NM_002612.4(PDK4):c.230C>T (p.Thr77Ile)	PDK4 (T77I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210969	NM_002612.4(PDK4):c.178G>C (p.Glu60Gln)	PDK4 (E60Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 810137	NM_002612.4(PDK4):c.172C>T (p.Arg58Ter)	PDK4 (R58*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2558623	NM_002612.4(PDK4):c.91A>C (p.Ser31Arg)	PDK4 (S31R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 219304	NM_002612.4(PDK4):c.59T>G (p.Val20Gly)	PDK4 (V20G)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2238145	NM_002612.4(PDK4):c.53G>A (p.Gly18Asp)	PDK4 (G18D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281565	NM_002612.4(PDK4):c.4A>C (p.Lys2Gln)	PDK4 (K2Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685252	GRCh37/hg19 7q21.3(chr7:94813388-96264152)x1	ASB4, C7orf76 +7 more	Copy number loss	not provided	GPathogenic
Select item 1808653	GRCh37/hg19 7q21.2-22.1(chr7:92721627-98311537)x1	ASB4, ASNS +34 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527378	GRCh37/hg19 7q21.3(chr7:94309218-95455621)	ASB4, DYNC1I1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 976777	GRCh37/hg19 7q21.3(chr7:93516132-95668733)	CASD1, COL1A2 +13 more	Copy number loss	Myoclonic dystonia 11	GPathogenic
Select item 815010	GRCh37/hg19 7q21.3(chr7:95151657-95302082)x1	ASB4, PDK4	Copy number loss	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563412	GRCh37/hg19 7q21.3(chr7:93285237-96280817)x1	C7orf76, CASD1 +15 more	Copy number loss	not provided	GPathogenic
Select item 545583	GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1	ARPC1A, ARPC1B +65 more	Copy number loss	Split hand-foot malformation 1	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 40