NEK6[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001539, LOC130001540 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	BSPRY, C5 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC113839508, LOC113839509 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	FKBP15, FKTN +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC130001667, LOC130001668 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC116186942, LOC116186943 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC121366033, LOC121366034 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 more	Copy number gain	See cases	GPathogenic
Select item 153090	GRCh38/hg38 9q33.2-33.3(chr9:123095598-126693843)x1	ADGRD2, ARPC5L +172 more	Copy number loss	See cases	GPathogenic
Select item 2254188	NM_014397.6(NEK6):c.-29-8974T>A	NEK6 (W8R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299233	NM_014397.6(NEK6):c.-29-8971G>A	NEK6 (E9K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548633	NM_014397.6(NEK6):c.-29-8925G>A	NEK6 (R24Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2218000	NM_014397.6(NEK6):c.-29-8925G>T	NEK6 (R24L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557554	NM_014397.6(NEK6):c.-26G>A	NEK6 (R10H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205207	NM_014397.6(NEK6):c.29A>G (p.His10Arg)	NEK6 (H10R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256384	NM_014397.6(NEK6):c.37A>T (p.Ser13Cys)	NEK6 (S47C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256385	NM_014397.6(NEK6):c.40T>C (p.Ser14Pro)	NEK6 (S39P +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3192237	NM_014397.6(NEK6):c.48C>A (p.Asn16Lys)	NEK6 (N41K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521391	NM_014397.6(NEK6):c.64G>T (p.Gly22Trp)	NEK6 (G22W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192244	NM_014397.6(NEK6):c.103A>G (p.Thr35Ala)	NEK6 (T53A +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2375933	NM_014397.6(NEK6):c.104C>T (p.Thr35Met)	NEK6 (T35M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237521	NM_014397.6(NEK6):c.142G>A (p.Glu48Lys)	NEK6 (E82K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299232	NM_014397.6(NEK6):c.172G>A (p.Glu58Lys)	NEK6 (E58K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717918	NM_014397.6(NEK6):c.270T>C (p.Cys90=)	NEK6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3192260	NM_014397.6(NEK6):c.282C>G (p.Ile94Met)	NEK6 (I112M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557273	NM_014397.6(NEK6):c.402C>G (p.Ile134Met)	NEK6 (I152M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389835	NM_014397.6(NEK6):c.434C>T (p.Pro145Leu)	NEK6 (P170L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316750	NM_014397.6(NEK6):c.478G>A (p.Val160Met)	NEK6 (V178M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382790	NM_014397.6(NEK6):c.496C>T (p.Arg166Cys)	NEK6 (R200C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600330	NM_014397.6(NEK6):c.694T>G (p.Ser232Ala)	NEK6 (S232A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192289	NM_014397.6(NEK6):c.756G>A (p.Met252Ile)	NEK6 (M277I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511905	NM_014397.6(NEK6):c.811G>A (p.Gly271Arg)	NEK6 (G296R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390869	NM_014397.6(NEK6):c.826G>A (p.Glu276Lys)	NEK6 (E294K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343484	NM_014397.6(NEK6):c.895G>A (p.Val299Met)	NEK6 (V299M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496183	NM_014397.6(NEK6):c.920A>G (p.His307Arg)	NEK6 (H341R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063098	GRCh37/hg19 9q33.2-33.3(chr9:122755951-127551056)x1	ADGRD2, C5 +50 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 1808695	GRCh37/hg19 9q33.2-33.3(chr9:124018736-129995568)x1	ADGRD2, ANGPTL2 +59 more	Copy number loss	not provided	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1527558	GRCh37/hg19 9q33.3(chr9:126938795-127335905)	ADGRD2, NEK6 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1341250	GRCh37/hg19 9q33.1-33.3(chr9:120045175-127335905)x1	ADGRD2, ASTN2 +49 more	Copy number loss	not provided	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ISCA1, MIR32 +555 more	Copy number gain	Global developmental delay +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	ABCA2, ABL1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 54