NEK11[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC126806816, LOC126806817 +484 more	Copy number gain	See cases	GUncertain significance
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	ABTB1, ACAD11 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 2297475	NM_024800.5(NEK11):c.13C>A (p.Gln5Lys)	NEK11 (Q5K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384859	NM_024800.5(NEK11):c.38G>T (p.Gly13Val)	NEK11 (G13V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391712	NM_024800.5(NEK11):c.67A>G (p.Thr23Ala)	NEK11 (T23A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2654149	NM_024800.5(NEK11):c.96A>G (p.Gln32=)	NEK11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2616620	NM_024800.5(NEK11):c.163G>C (p.Glu55Gln)	NEK11 (E55Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191812	NM_024800.5(NEK11):c.190T>A (p.Ser64Thr)	NEK11 (S64T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3191815	NM_024800.5(NEK11):c.260A>G (p.Asp87Gly)	NEK11 (D87G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3191820	NM_024800.5(NEK11):c.322A>G (p.Thr108Ala)	NEK11 (T108A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2292213	NM_024800.5(NEK11):c.341G>A (p.Arg114Gln)	NEK11 (R156Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191826	NM_024800.5(NEK11):c.359T>C (p.Ile120Thr)	NEK11 (I14T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191835	NM_024800.5(NEK11):c.391C>T (p.Pro131Ser)	NEK11 (P131S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608839	NM_024800.5(NEK11):c.431T>C (p.Leu144Pro)	NEK11 (L38P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221966	NM_024800.5(NEK11):c.481T>C (p.Ser161Pro)	NEK11 (S161P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2654150	NM_024800.5(NEK11):c.488A>G (p.Asn163Ser)	NEK11 (N15S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2392966	NM_024800.5(NEK11):c.549G>A (p.Met183Ile)	NEK11 (M225I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316848	NM_024800.5(NEK11):c.557G>T (p.Cys186Phe)	NEK11 (C38F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395051	NM_024800.5(NEK11):c.572C>T (p.Thr191Ile)	NEK11 (T190I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538641	NM_024800.5(NEK11):c.577A>G (p.Thr193Ala)	NEK11 (T192A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2610152	NM_024800.5(NEK11):c.620A>G (p.Gln207Arg)	NEK11 (Q101R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2654151	NM_024800.5(NEK11):c.639G>A (p.Ser213=)	NEK11	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2324668	NM_024800.5(NEK11):c.745A>G (p.Thr249Ala)	NEK11 (T248A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334252	NM_024800.5(NEK11):c.772A>G (p.Lys258Glu)	NEK11 (K194E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398631	NM_024800.5(NEK11):c.778C>G (p.Leu260Val)	NEK11 (L154V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372945	NM_024800.5(NEK11):c.904A>T (p.Thr302Ser)	NEK11 (T344S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535697	NM_024800.5(NEK11):c.928T>G (p.Cys310Gly)	NEK11 (C204G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340682	NM_024800.5(NEK11):c.1090G>C (p.Val364Leu)	NEK11 (V216L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191766	NM_024800.5(NEK11):c.1142G>A (p.Arg381Gln)	NEK11 (R275Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357475	NM_024800.5(NEK11):c.1154A>G (p.Gln385Arg)	NEK11 (Q279R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604918	NM_024800.5(NEK11):c.1167T>G (p.Asp389Glu)	NEK11 (D283E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654152	NM_024800.5(NEK11):c.1399+13845A>G	NEK11 (Y477C)	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 3191777	NM_024800.5(NEK11):c.1476G>T (p.Glu492Asp)	NEK11 (E344D +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191779	NM_024800.5(NEK11):c.1491A>G (p.Ile497Met)	NEK11 (I349M +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596883	NM_024800.5(NEK11):c.1493C>T (p.Ala498Val)	NEK11 (A314V +9 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2654153	NM_024800.5(NEK11):c.1494G>A (p.Ala498=)	NEK11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3191786	NM_024800.5(NEK11):c.1577C>T (p.Ala526Val)	NEK11 (A421V +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709573	NM_024800.5(NEK11):c.1578G>A (p.Ala526=)	NEK11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2551534	NM_024800.5(NEK11):c.1579T>A (p.Leu527Met)	NEK11 (L421M +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617049	NM_024800.5(NEK11):c.1607G>T (p.Gly536Val)	NEK11 (G395V +9 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 59775	GRCh38/hg38 3q22.1(chr3:131273462-131383846)x3	LOC129937577, NEK11 +2 more	Copy number gain	See cases	GBenign
Select item 708659	NM_024800.5(NEK11):c.1703T>A (p.Met568Lys)	NEK11 (M463K +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2260758	NM_024800.5(NEK11):c.1733A>G (p.Lys578Arg)	NEK11, NUDT16-DT (K430R +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480918	NM_024800.5(NEK11):c.1801G>A (p.Glu601Lys)	NEK11, NUDT16-DT (E417K +8 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2459364	NM_024800.5(NEK11):c.1813C>T (p.Arg605Cys)	NEK11, NUDT16-DT (R605C +8 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3191804	NM_024800.5(NEK11):c.1814G>C (p.Arg605Pro)	NEK11, NUDT16-DT (A425P +14 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405586	NM_024800.5(NEK11):c.1837C>T (p.Pro613Ser)	NEK11, NUDT16-DT (P429S +8 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2371185	NM_024800.5(NEK11):c.1885G>A (p.Glu629Lys)	NEK11, NUDT16-DT (E488K +8 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ISY1-RAB43, ITGB5 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183990	Single allele	ACAD11, ACAD9 +61 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 980056	GRCh37/hg19 3q22.1(chr3:130791550-130881409)x1	NEK11	Copy number loss	not provided	GUncertain significance
Select item 685729	GRCh37/hg19 3q22.1(chr3:130634946-130768428)x3	ASTE1, ATP2C1 +1 more	Copy number gain	not provided	GUncertain significance
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

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Items: 60