NEK3[gene] - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	LINC00400, LINC02333 +604 more	Copy number loss	See cases	GPathogenic
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	LOC130009665, LOC130009659 +612 more	Copy number loss	See cases	GPathogenic
Select item 148828	GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1	ABCC4, ABHD13 +1404 more	Copy number loss	See cases	GPathogenic
Select item 147318	GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1	LOC130009942, LOC130009943 +733 more	Copy number loss	See cases	GPathogenic
Select item 144462	GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3	ALG11, ARL11 +729 more	Copy number gain	See cases	GPathogenic
Select item 59893	GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3	LOC130009917, LOC130009918 +1288 more	Copy number gain	See cases	GPathogenic
Select item 59896	GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3	ARHGEF7-AS1, ARHGEF7-AS2 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57227	GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1	LOC130009879, LOC130009880 +657 more	Copy number loss	See cases	GPathogenic
Select item 545122	NC_000013.11:g.46968080_87381985del40413906	ACOD1, ALG11 +530 more	Deletion	Chromosome 13q14 deletion syndrome	GPathogenic
Select item 147464	GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1	OBI1-AS1, OLFM4 +513 more	Copy number loss	See cases	GPathogenic
Select item 154070	GRCh38/hg38 13q14.2-21.31(chr13:47765202-62058520)x1	ALG11, ARL11 +266 more	Copy number loss	See cases	GPathogenic
Select item 58255	GRCh38/hg38 13q14.3(chr13:51717666-52258617)x3	ALG11, ATP7B +35 more	Copy number gain	See cases	GUncertain significance
Select item 2542015	NM_002498.3(NEK3):c.1333C>T (p.Pro445Ser)	NEK3 (P445S +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395617	NM_002498.3(NEK3):c.1148C>A (p.Ser383Tyr)	NEK3 (S383Y +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544676	NM_002498.3(NEK3):c.1115T>C (p.Leu372Pro)	NEK3 (L372P +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191929	NM_002498.3(NEK3):c.1105A>G (p.Asn369Asp)	NEK3 (N291D +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301375	NM_002498.3(NEK3):c.1069A>G (p.Asn357Asp)	NEK3 (N357D +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299214	NM_002498.3(NEK3):c.1027A>G (p.Lys343Glu)	NEK3 (K248E +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299219	NM_002498.3(NEK3):c.933G>C (p.Glu311Asp)	NEK3 (E311D +7 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191981	NM_002498.3(NEK3):c.841A>T (p.Ile281Leu)	NEK3 (I171L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191979	NM_002498.3(NEK3):c.802G>A (p.Glu268Lys)	NEK3 (E190K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366635	NM_002498.3(NEK3):c.775C>T (p.Arg259Trp)	NEK3 (R259W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 716994	NM_002498.3(NEK3):c.775C>G (p.Arg259Gly)	NEK3 (R259G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2556020	NM_002498.3(NEK3):c.773C>T (p.Ala258Val)	NEK3 (A258V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402559	NM_002498.3(NEK3):c.740C>T (p.Ser247Leu)	NEK3 (S247L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290350	NM_002498.3(NEK3):c.668C>T (p.Pro223Leu)	NEK3 (P223L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299215	NM_002498.3(NEK3):c.650G>C (p.Gly217Ala)	NEK3 (G107A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543769	NM_002498.3(NEK3):c.601C>A (p.Pro201Thr)	NEK3 (P201T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254873	NM_002498.3(NEK3):c.533C>T (p.Pro178Leu)	NEK3 (P178L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191959	NM_002498.3(NEK3):c.500A>G (p.Tyr167Cys)	NEK3 (Y89C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227690	NM_002498.3(NEK3):c.467T>C (p.Met156Thr)	NEK3 (M156T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191953	NM_002498.3(NEK3):c.454C>A (p.Leu152Ile)	NEK3 (L152I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191950	NM_002498.3(NEK3):c.449G>A (p.Arg150His)	NEK3 (R156H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299216	NM_002498.3(NEK3):c.383T>C (p.Ile128Thr)	NEK3 (I18T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191945	NM_002498.3(NEK3):c.382A>G (p.Ile128Val)	NEK3 (I72V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357432	NM_002498.3(NEK3):c.364C>T (p.Arg122Cys)	NEK3 (R122C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535961	NM_002498.3(NEK3):c.331A>G (p.Met111Val)	NEK3 (M111V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3299218	NM_002498.3(NEK3):c.312A>G (p.Ile104Met)	NEK3 (I104M +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2508255	NM_002498.3(NEK3):c.295T>C (p.Phe99Leu)	NEK3 (F99L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2368792	NM_002498.3(NEK3):c.239A>T (p.Glu80Val)	NEK3 (E80V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2533989	NM_002498.3(NEK3):c.212C>G (p.Ala71Gly)	NEK3 (A71G +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 981810	NM_002498.3(NEK3):c.29T>A (p.Ile10Asn)	NEK3 (I10N)	Single nucleotide variant (5 prime UTR variant +3 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 3148943	GRCh37/hg19 13q14.2-14.3(chr13:50181731-54350061)x1	ALG11, ARL11 +29 more	Copy number loss	not provided	GUncertain significance
Select item 3063311	GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3	AKAP11, ALG11 +117 more	Copy number gain	not specified	GPathogenic
Select item 3063292	GRCh37/hg19 13q14.3(chr13:52580525-52708844)x1	ALG11, ATP7B +3 more	Copy number loss	not specified	GUncertain significance
Select item 3063283	GRCh37/hg19 13q14.11-21.2(chr13:44076923-60520078)x1	ALG11, ARL11 +77 more	Copy number loss	not specified	GPathogenic
Select item 3063279	GRCh37/hg19 13q14.2-32.2(chr13:49547974-98214905)x1	ABCC4, ACOD1 +102 more	Copy number loss	not specified	GPathogenic
Select item 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	ITM2B, KBTBD6 +119 more	Copy number loss	not provided	GPathogenic
Select item 2685465	GRCh37/hg19 13q14.3(chr13:51768837-54900165)x1	ALG11, ATP7B +18 more	Copy number loss	not provided	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1706562	GRCh37/hg19 13q14.3(chr13:52535544-53362733)x3	ALG11, ATP7B +9 more	Copy number gain	See cases	GUncertain significance
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527772	GRCh37/hg19 13q14.11-14.3(chr13:44573371-53324137)	ALG11, ARL11 +64 more	Copy number loss	not specified	GPathogenic
Select item 1527771	GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)	KLHL1, LPAR6 +120 more	Copy number loss	not specified	GPathogenic
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	SPART, SPRYD7 +147 more	Copy number loss	not specified	GPathogenic
Select item 1527762	GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)	AKAP11, ALG11 +127 more	Copy number loss	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341277	GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3	GTF2F2, PRR20D +175 more	Copy number gain	not provided	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1328110	GRCh37/hg19 13q14.13-21.31(chr13:45819046-63910212)x1	ATP7B, WDFY2 +70 more	Copy number loss	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 988918	GRCh37/hg19 13q14.3-21.1(chr13:52170957-57713087)x3	ALG11, ATP7B +15 more	Copy number gain	not provided	GUncertain significance
Select item 815587	GRCh37/hg19 13q14.3-31.3(chr13:51512603-91631111)x1	DIS3, KLF5 +62 more	Copy number loss	not provided	GPathogenic
Select item 688486	GRCh37/hg19 13q14.3(chr13:52505074-52763413)x1	ALG11, ATP7B +3 more	Copy number loss	not provided	GUncertain significance
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 687045	GRCh37/hg19 13q14.3(chr13:52538548-53354011)x3	ALG11, ATP7B +9 more	Copy number gain	not provided	GUncertain significance
Select item 685867	GRCh37/hg19 13q14.2-21.2(chr13:49586017-61311845)x1	DLEU2, DLEU7 +45 more	Copy number loss	not provided	GUncertain significance
Select item 565290	Single allele	ALG11, ARL11 +50 more	Deletion	Intellectual disability	GLikely pathogenic
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	NUDT15, NUFIP1 +211 more	Copy number gain	not provided	GPathogenic
Select item 564080	GRCh37/hg19 13q14.3-21.32(chr13:51939350-66854666)x3	ALG11, ATP7B +25 more	Copy number gain	not provided	GLikely pathogenic
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	FGF9, FLT1 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 441094	GRCh37/hg19 13q14.3(chr13:51786657-54834098)x1	ALG11, ATP7B +18 more	Copy number loss	not provided	Gnot provided
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	CRYL1, CSNK1A1L +332 more	Copy number gain	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic

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Items: 95