NEK4[gene] - ClinVar

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

Search results

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 155564	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	ABHD14A, ABHD14A-ACY1 +197 more	Copy number loss	See cases	GLikely pathogenic
Select item 2356215	NM_003157.6(NEK4):c.2438G>A (p.Arg813His)	NEK4 (R724H +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 730038	NM_003157.6(NEK4):c.2385A>G (p.Leu795=)	NEK4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3192065	NM_003157.6(NEK4):c.2363G>A (p.Arg788His)	NEK4 (R788H +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2457962	NM_003157.6(NEK4):c.2249G>A (p.Gly750Glu)	NEK4 (G668E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192060	NM_003157.6(NEK4):c.2153T>C (p.Leu718Pro)	NEK4 (L672P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386509	NM_003157.6(NEK4):c.2150A>G (p.Lys717Arg)	NEK4 (K635R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259218	NM_003157.6(NEK4):c.2125G>A (p.Val709Ile)	NEK4 (V627I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556729	NM_003157.6(NEK4):c.2054C>T (p.Thr685Ile)	NEK4 (T685I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397547	NM_003157.6(NEK4):c.2045G>C (p.Ser682Thr)	NEK4 (S636T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192046	NM_003157.6(NEK4):c.2024G>A (p.Cys675Tyr)	NEK4 (C629Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 266082	NM_003157.6(NEK4):c.2017dup (p.Ile673fs)	NEK4 (I584fs +3 more)	Duplication (frameshift variant)	Ciliopathy	GLikely pathogenic
Select item 2349433	NM_003157.6(NEK4):c.1975C>T (p.Arg659Trp)	NEK4 (R577W +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2622927	NM_003157.6(NEK4):c.1959G>T (p.Gln653His)	NEK4 (Q564H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615734	NM_003157.6(NEK4):c.1930G>C (p.Gly644Arg)	NEK4 (G555R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192039	NM_003157.6(NEK4):c.1838T>C (p.Leu613Ser)	NEK4 (L524S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535349	NM_003157.6(NEK4):c.1828G>C (p.Asp610His)	NEK4 (D528H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213707	NM_003157.6(NEK4):c.1769G>A (p.Arg590His)	NEK4 (R501H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596521	NM_003157.6(NEK4):c.1748A>G (p.Gln583Arg)	NEK4 (Q494R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192024	NM_003157.6(NEK4):c.1637A>G (p.His546Arg)	NEK4 (H546R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192020	NM_003157.6(NEK4):c.1631C>G (p.Thr544Ser)	NEK4 (T455S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468199	NM_003157.6(NEK4):c.1609C>T (p.Arg537Trp)	NEK4 (R537W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192011	NM_003157.6(NEK4):c.1574A>G (p.Asn525Ser)	NEK4 (N436S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2253240	NM_003157.6(NEK4):c.1559A>G (p.Asp520Gly)	NEK4 (D431G +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3191999	NM_003157.6(NEK4):c.1532T>C (p.Ile511Thr)	NEK4 (I429T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681432	NM_003157.6(NEK4):c.1388A>G (p.Lys463Arg)	NEK4 (K374R +2 more)	Single nucleotide variant (missense variant +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2389545	NM_003157.6(NEK4):c.1334A>G (p.Gln445Arg)	NEK4 (Q356R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524885	NM_003157.6(NEK4):c.1105A>G (p.Ile369Val)	NEK4 (I280V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248469	NM_003157.6(NEK4):c.806T>C (p.Leu269Ser)	NEK4 (L180S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532113	NM_003157.6(NEK4):c.799T>G (p.Phe267Val)	NEK4 (F178V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599902	NM_003157.6(NEK4):c.718A>C (p.Thr240Pro)	NEK4 (T151P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554304	NM_003157.6(NEK4):c.701T>C (p.Leu234Pro)	NEK4 (L145P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544964	NM_003157.6(NEK4):c.633G>T (p.Met211Ile)	NEK4 (M122I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275480	NM_003157.6(NEK4):c.628G>A (p.Asp210Asn)	NEK4 (D210N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332066	NM_003157.6(NEK4):c.540C>G (p.Asn180Lys)	NEK4 (N180K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2581143	NM_003157.6(NEK4):c.460C>T (p.Arg154Ter)	NEK4 (R154* +2 more)	Single nucleotide variant (nonsense)	not provided	Gnot provided
Select item 2543930	NM_003157.6(NEK4):c.433A>G (p.Ile145Val)	NEK4 (I63V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252693	NM_003157.6(NEK4):c.386A>G (p.His129Arg)	NEK4 (H40R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520699	NM_003157.6(NEK4):c.293A>G (p.Gln98Arg)	NEK4 (Q98R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540982	NM_003157.6(NEK4):c.239A>G (p.Tyr80Cys)	NEK4 (Y80C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3191994	NM_003157.6(NEK4):c.151G>C (p.Glu51Gln)	NEK4 (E51Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3191991	NM_003157.6(NEK4):c.139C>T (p.Arg47Trp)	NEK4 (R47W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2394929	NM_003157.6(NEK4):c.77G>A (p.Arg26Gln)	NEK4 (R26Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192088	NM_003157.6(NEK4):c.73C>T (p.His25Tyr)	NEK4 (H25Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207605	NM_003157.6(NEK4):c.16T>C (p.Tyr6His)	NEK4 (Y6H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 2427145	NC_000003.11:g.(?_52109903)_(53164416_?)del	ALAS1, BAP1 +28 more	Deletion	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2423375	NC_000003.11:g.(?_52018081)_(53845433_?)del	ACY1, ALAS1 +35 more	Deletion	not provided	GUncertain significance
Select item 1808546	GRCh37/hg19 3p21.1(chr3:52783975-53418893)x3	DCP1A, ITIH1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1808533	GRCh37/hg19 3p21.1(chr3:52780509-53418869)x3	DCP1A, ITIH1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 814444	GRCh37/hg19 3p21.2-21.1(chr3:51247306-53069942)x3	ABHD14A, ABHD14B +48 more	Copy number gain	not provided	GUncertain significance
Select item 687764	GRCh37/hg19 3p21.2-21.1(chr3:52195134-52869037)x1	ALAS1, BAP1 +24 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	AMT, APEH +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 253632	GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	ABHD6, ACOX2 +66 more	Copy number loss	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: 57