NEK4[gene] - ClinVar

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Items: 61

	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 3299222	NM_003157.6(NEK4):c.1859G>A (p.Arg620Gln)	NEK4 (R620Q +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 3299221	NM_003157.6(NEK4):c.1601G>A (p.Arg534Gln)	NEK4 (R445Q +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 3299220	NM_003157.6(NEK4):c.1205G>C (p.Ser402Thr)	NEK4 (S313T +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 3299223	NM_003157.6(NEK4):c.436A>G (p.Lys146Glu)	NEK4 (K146E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +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

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Items: 61